Sugi Variant

Sugi Variant/KRT6B

KRT6B — 267 ClinVar variants

All ClinVar germline KRT6B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 10 Conflicting · 35 Benign · 7 Benign/Likely benign · 60 Likely benign · 150 Uncertain significance

Full KRT6B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 143

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 agree, ClinVar conflicts 8

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 101

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

Predictors split 34

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

All KRT6B variants

Pathogenic 3

  • p.Asn172del Multiple submitters KRT6B-related disorders
  • p.Glu472Lys Multiple submitters pachyonychia congenita 4
  • p.Leu469Arg No assertion criteria pachyonychia congenita 4

Pathogenic/Likely pathogenic 1

  • p.Glu461Lys Multiple submitters pachyonychia congenita 4

Likely pathogenic 1

Conflicting classifications of pathogenicity 10

Benign 35

Benign/Likely benign 7

Likely benign 60

Uncertain significance 150