Sugi Variant

Sugi Variant/KDM4B

KDM4B — 413 ClinVar variants

All ClinVar germline KDM4B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 271 flagged for review →

9 Pathogenic · 1 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 12 Conflicting · 12 Benign · 4 Benign/Likely benign · 68 Likely benign · 280 Uncertain significance

Full KDM4B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 271

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 4

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 184

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 184

Predictors split 82

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

All KDM4B variants

Pathogenic 9

  • c.432+1del Single submitter
  • p.Arg803Ter Single submitter Inborn genetic diseases
  • p.Gln595Ter Single submitter intellectual developmental disorder, autosomal dominant 65
  • p.Leu757fs Single submitter
  • p.Ser1003fs Single submitter Inborn genetic diseases
  • p.Tyr133Cys Single submitter
  • p.Glu593fs No assertion criteria intellectual developmental disorder, autosomal dominant 65
  • p.Glu741fs No assertion criteria intellectual developmental disorder, autosomal dominant 65
  • p.Leu220Pro No assertion criteria intellectual developmental disorder, autosomal dominant 65

Pathogenic/Likely pathogenic 1

  • c.432+1G>A Multiple submitters Inborn genetic diseases

Likely pathogenic 27

  • p.Ala399_Leu400insTer Multiple submitters intellectual developmental disorder, autosomal dominant 65
  • p.His768Arg Multiple submitters Inborn genetic diseases
  • c.1316-1G>A Single submitter intellectual developmental disorder, autosomal dominant 65
  • c.2085+2del Single submitter intellectual developmental disorder, autosomal dominant 65
  • c.2440_2441+1del Single submitter intellectual developmental disorder, autosomal dominant 65
  • c.2441+1G>A Single submitter intellectual developmental disorder, autosomal dominant 65
  • c.2442-5_2445delinsGC Single submitter intellectual developmental disorder, autosomal dominant 65
  • c.2550+2T>C Single submitter intellectual developmental disorder, autosomal dominant 65
  • c.2901+59_2901+60insTCCCGAGAGCATCACGGTGAGCTGTGGGGTGGGGCAGGGGGCGGGGGGAGGCTGGGAGCACAGCGACAACCTGTA Single submitter intellectual developmental disorder, autosomal dominant 65
  • c.432+1G>C Single submitter
  • c.432+2dup Single submitter
  • p.Ala591fs Single submitter intellectual developmental disorder, autosomal dominant 65
  • p.Arg222Trp Single submitter intellectual developmental disorder, autosomal dominant 65
  • p.Gln379Ter Single submitter neurodevelopmental disorder
  • p.Gln808Ter Single submitter intellectual developmental disorder, autosomal dominant 65
  • p.Gln85Ter Single submitter intellectual developmental disorder, autosomal dominant 65
  • p.Glu777Ter Single submitter intellectual developmental disorder, autosomal dominant 65
  • p.Glu979Ter Single submitter intellectual developmental disorder, autosomal dominant 65
  • p.Gly406fs Single submitter intellectual developmental disorder, autosomal dominant 65
  • p.Gly782fs Single submitter intellectual developmental disorder, autosomal dominant 65
  • p.Leu332fs Single submitter intellectual developmental disorder, autosomal dominant 65
  • p.Leu985Pro Single submitter
  • p.Phe18Leu Single submitter intellectual developmental disorder, autosomal dominant 65
  • p.Pro704_Ile705insTer Single submitter intellectual developmental disorder, autosomal dominant 65
  • p.Thr620fs Single submitter Neurodevelopmental delay
  • p.Trp660Ter Single submitter intellectual developmental disorder, autosomal dominant 65
  • p.Val888fs Single submitter intellectual developmental disorder, autosomal dominant 65

Conflicting classifications of pathogenicity 12

Benign 12

Benign/Likely benign 4

Likely benign 68

Uncertain significance 280