Sugi Variant

Sugi Variant/KLK4

KLK4 — 61 ClinVar variants

All ClinVar germline KLK4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 19 Benign · 1 Benign/Likely benign · 5 Likely benign · 29 Uncertain significance

Full KLK4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 25

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 20

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

Predictors split 5

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

All KLK4 variants

Pathogenic 4

  • p.Leu211fs Multiple submitters amelogenesis imperfecta type 2A1
  • p.Cys213Arg No assertion criteria amelogenesis imperfecta
  • p.Gly82fs No assertion criteria amelogenesis imperfecta type 2A1
  • p.Ser57Ter No assertion criteria amelogenesis imperfecta

Pathogenic/Likely pathogenic 1

  • p.Trp153Ter Multiple submitters KLK4-related disorders

Likely pathogenic 2

  • c.224+2T>C Single submitter amelogenesis imperfecta type 2A1
  • p.Ser207fs Single submitter amelogenesis imperfecta type 2A1

Benign 19

Benign/Likely benign 1

Likely benign 5

Uncertain significance 29