Sugi Variant

Sugi Variant/IKBKG

IKBKG — 163 ClinVar variants

All ClinVar germline IKBKG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →

48 Pathogenic · 1 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 7 Conflicting · 8 Benign · 3 Benign/Likely benign · 22 Likely benign · 51 Uncertain significance

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

⚑ Evidence disagreements 42

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 5

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 3

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

All IKBKG variants

Pathogenic 48

Pathogenic/Likely pathogenic 1

  • p.Gln236Ter Multiple submitters incontinentia pigmenti

Likely pathogenic 23

Conflicting classifications of pathogenicity 7

Benign 8

Benign/Likely benign 3

  • p.Asp113Asn Multiple submitters ectodermal dysplasia and immunodeficiency 1
  • p.Glu57Lys Multiple submitters ectodermal dysplasia and immunodeficiency 1
  • p.Leu52= Multiple submitters

Likely benign 22

Uncertain significance 51