Sugi Variant

Sugi Variant/KSR2

KSR2 — 404 ClinVar variants

All ClinVar germline KSR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 189 flagged for review →

3 Likely pathogenic · 1 Conflicting · 22 Benign · 13 Benign/Likely benign · 153 Likely benign · 212 Uncertain significance

Full KSR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 189

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 1

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

Predictors lean, ClinVar uncertain 148

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

Predictors split 40

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

All KSR2 variants

Likely pathogenic 3

  • c.1802+2T>A Single submitter KSR2-related disorder
  • p.Arg463Ter No assertion criteria KSR2-related disorder
  • p.Glu629fs No assertion criteria KSR2-related disorder

Conflicting classifications of pathogenicity 1

Benign 22

Benign/Likely benign 13

Likely benign 153

Uncertain significance 212