Sugi Variant

Sugi Variant/KRT12

KRT12 — 96 ClinVar variants

All ClinVar germline KRT12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →

8 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 5 Conflicting · 9 Benign · 1 Benign/Likely benign · 12 Likely benign · 59 Uncertain significance

Full KRT12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 59

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 2

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

Predictors lean, ClinVar uncertain 31

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

Predictors split 26

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

All KRT12 variants

Pathogenic 8

  • p.Met129Thr Single submitter corneal dystrophy, Meesmann, 1
  • p.Arg135Gly No assertion criteria corneal dystrophy, Meesmann, 1
  • p.Arg135Ile No assertion criteria corneal dystrophy, Meesmann, 1
  • p.Arg135Thr No assertion criteria corneal dystrophy, Meesmann, 1
  • p.Leu132Pro No assertion criteria corneal dystrophy, Meesmann, 1
  • p.Leu140Arg No assertion criteria corneal dystrophy, Meesmann, 1
  • p.Tyr429Asp No assertion criteria corneal dystrophy, Meesmann, 1
  • p.Val143Leu No assertion criteria corneal dystrophy, Meesmann, 1

Pathogenic/Likely pathogenic 1

  • p.Met129Val Multiple submitters Inborn genetic diseases

Likely pathogenic 1

Conflicting classifications of pathogenicity 5

Benign 9

Benign/Likely benign 1

Likely benign 12

Uncertain significance 59