Sugi Variant

Sugi Variant/KRT9

KRT9 — 233 ClinVar variants

All ClinVar germline KRT9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →

10 Pathogenic · 4 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 22 Conflicting · 20 Benign · 15 Benign/Likely benign · 26 Likely benign · 129 Uncertain significance

Full KRT9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 104

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 9

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

Predictors lean, ClinVar uncertain 63

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

Predictors split 32

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

All KRT9 variants

Pathogenic 10

  • p.Asn161Ser Multiple submitters KRT9-related disorder
  • p.Met157Val Multiple submitters epidermolytic palmoplantar keratoderma, 1
  • p.Tyr454His Single submitter
  • p.Tyr558Ter Single submitter
  • p.Asn161Ile No assertion criteria epidermolytic palmoplantar keratoderma, 1
  • p.Asn161Tyr No assertion criteria epidermolytic palmoplantar keratoderma, 1
  • p.Gln172Pro No assertion criteria epidermolytic palmoplantar keratoderma, 1
  • p.Leu160Phe No assertion criteria epidermolytic palmoplantar keratoderma, 1
  • p.Leu168Ser No assertion criteria epidermolytic palmoplantar keratoderma, 1
  • p.Val171Met No assertion criteria epidermolytic palmoplantar keratoderma, 1

Pathogenic/Likely pathogenic 4

  • p.Arg163Gln Multiple submitters KRT9-related disorder
  • p.Arg163Leu Multiple submitters epidermolytic palmoplantar keratoderma, 1
  • p.Arg163Trp Multiple submitters KRT9-related disorder
  • p.Asn161Lys Multiple submitters epidermolytic palmoplantar keratoderma, 1

Likely pathogenic 7

  • p.Leu160Pro Multiple submitters KRT9-related disorder
  • p.Arg163Gly Single submitter KRT9-related disorder
  • p.Leu160Val Single submitter KRT9-related disorder
  • p.Tyr167Asn Single submitter epidermolytic palmoplantar keratoderma, 1 ⚠
  • p.Tyr167Asp Single submitter KRT9-related disorder
  • p.Tyr167Ser Single submitter palmoplantar keratoderma, epidermolytic
  • p.Val171Gly Single submitter Inborn genetic diseases

Conflicting classifications of pathogenicity 22

  • p.Ala141Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg233Cys Single submitter palmoplantar keratoderma, epidermolytic
  • p.Arg374Trp Single submitter palmoplantar keratoderma, epidermolytic
  • p.Asn337= Single submitter palmoplantar keratoderma, epidermolytic
  • p.Cys406Arg Single submitter palmoplantar keratoderma, epidermolytic ⚠
  • p.Gly128Arg Single submitter Inborn genetic diseases
  • p.Gly193Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly532Ser Single submitter palmoplantar keratoderma, epidermolytic ⚠
  • p.Gly56Val Single submitter epidermolytic palmoplantar keratoderma, 1 ⚠
  • p.Gly96Ser Single submitter Inborn genetic diseases ⚠
  • p.His375= Single submitter palmoplantar keratoderma, epidermolytic
  • p.Ile430= Single submitter palmoplantar keratoderma, epidermolytic
  • p.Leu373= Single submitter palmoplantar keratoderma, epidermolytic
  • p.Leu440Val Single submitter Inborn genetic diseases ⚠
  • p.Leu458Phe Single submitter KRT9-related disorder ⚠
  • p.Lys293Asn Single submitter Inborn genetic diseases
  • p.Met157Thr Single submitter KRT9-related disorder ⚠
  • p.Phe465Cys Single submitter palmoplantar keratoderma, epidermolytic
  • p.Ser366Gly Single submitter epidermolytic palmoplantar keratoderma, 1 ⚠
  • p.Ser623= Single submitter palmoplantar keratoderma, epidermolytic
  • p.Ser84Gly Single submitter Inborn genetic diseases ⚠
  • p.Tyr520= Single submitter palmoplantar keratoderma, epidermolytic

Benign 20

Benign/Likely benign 15

  • c.1045-9G>A Multiple submitters palmoplantar keratoderma, epidermolytic
  • c.1170+8G>T Multiple submitters palmoplantar keratoderma, epidermolytic
  • c.1395-13C>T Multiple submitters palmoplantar keratoderma, epidermolytic
  • p.Asp180Glu Multiple submitters palmoplantar keratoderma, epidermolytic
  • p.Gly117= Multiple submitters palmoplantar keratoderma, epidermolytic
  • p.Gly316= Multiple submitters palmoplantar keratoderma, epidermolytic
  • p.Gly503= Multiple submitters palmoplantar keratoderma, epidermolytic
  • p.Gly529= Multiple submitters palmoplantar keratoderma, epidermolytic
  • p.Gly556_Asn557insGlyHisSerGlyGlySerGlyGly Multiple submitters
  • p.Gly74= Multiple submitters palmoplantar keratoderma, epidermolytic
  • p.Leu249= Multiple submitters
  • p.Leu285= Multiple submitters palmoplantar keratoderma, epidermolytic
  • p.Lys170= Multiple submitters palmoplantar keratoderma, epidermolytic
  • p.Ser24= Multiple submitters palmoplantar keratoderma, epidermolytic
  • p.Tyr600= Multiple submitters palmoplantar keratoderma, epidermolytic

Likely benign 26

Uncertain significance 129