Sugi Variant

Sugi Variant/KRT2

KRT2 — 248 ClinVar variants

All ClinVar germline KRT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →

6 Pathogenic · 5 Likely pathogenic · 13 Conflicting · 55 Benign · 7 Benign/Likely benign · 42 Likely benign · 120 Uncertain significance

Full KRT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 111

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 7

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

Predictors lean, ClinVar uncertain 60

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

Predictors split 44

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

All KRT2 variants

Pathogenic 6

  • p.Glu487Lys Multiple submitters KRT2-related disorder
  • p.Asn186Lys Single submitter superficial epidermolytic ichthyosis
  • p.Asn186Asp No assertion criteria superficial epidermolytic ichthyosis
  • p.Asn186Tyr No assertion criteria superficial epidermolytic ichthyosis
  • p.Glu476Lys No assertion criteria superficial epidermolytic ichthyosis
  • p.Glu487Asp No assertion criteria superficial epidermolytic ichthyosis

Likely pathogenic 5

  • p.Glu488Lys Multiple submitters superficial epidermolytic ichthyosis
  • p.Asn186Ser Single submitter superficial epidermolytic ichthyosis
  • p.Gln181Pro Single submitter superficial epidermolytic ichthyosis
  • p.Ile477Asn Single submitter
  • p.Thr479Pro Single submitter Palmoplantar keratodermas

Conflicting classifications of pathogenicity 13

Benign 55

Benign/Likely benign 7

  • c.861+6C>G Multiple submitters superficial epidermolytic ichthyosis
  • c.957+16C>T Multiple submitters
  • p.Arg45Cys Multiple submitters superficial epidermolytic ichthyosis
  • p.Asn164= Multiple submitters superficial epidermolytic ichthyosis
  • p.Asn256Ser Multiple submitters superficial epidermolytic ichthyosis
  • p.Gly116= Multiple submitters superficial epidermolytic ichthyosis
  • p.Ser158= Multiple submitters superficial epidermolytic ichthyosis

Likely benign 42

Uncertain significance 120