Sugi Variant

Sugi Variant/KDF1

KDF1 — 133 ClinVar variants

All ClinVar germline KDF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →

2 Pathogenic · 3 Likely pathogenic · 4 Conflicting · 11 Benign · 2 Benign/Likely benign · 20 Likely benign · 91 Uncertain significance

Full KDF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 98

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 vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 71

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

Predictors split 21

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

All KDF1 variants

Pathogenic 2

Likely pathogenic 3

  • p.Asp265Glu Single submitter ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ⚠
  • p.His254Tyr Single submitter ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ⚠
  • p.Ile243Leu Single submitter tooth agenesis ⚠

Conflicting classifications of pathogenicity 4

Benign 11

Benign/Likely benign 2

Likely benign 20

Uncertain significance 91