Sugi Variant

Sugi Variant/KDM2B

KDM2B — 308 ClinVar variants

All ClinVar germline KDM2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 214 flagged for review →

11 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 3 Conflicting · 15 Benign · 41 Likely benign · 229 Uncertain significance

Full KDM2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 214

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 2

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

Predictors lean, ClinVar uncertain 135

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

Predictors split 77

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

All KDM2B variants

Pathogenic 11

  • p.Gly638Asp Multiple submitters neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities
  • p.Arg649Gln Single submitter
  • p.Asn1002fs Single submitter
  • p.Cys616Arg Single submitter neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities
  • p.Cys616Phe Single submitter Inborn genetic diseases
  • p.Cys627Ser Single submitter KDM2B-related disorder
  • p.Gln971fs Single submitter
  • p.Gly638Ser Single submitter Inborn genetic diseases
  • p.Lys635del Single submitter
  • c.1903_1905AAG No assertion criteria neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities
  • p.Cys630Ser No assertion criteria neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities

Pathogenic/Likely pathogenic 1

  • p.Arg614Pro Multiple submitters KDM2B-related syndrome

Likely pathogenic 8

  • c.778-2A>G Single submitter KDM2B-related disorder
  • p.Arg649Trp Single submitter
  • p.Cys646fs Single submitter neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities
  • p.Gly638Ala Single submitter
  • p.His253Arg Single submitter neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities
  • p.Arg167Gln No assertion criteria KDM2B-related disorder
  • p.Cys613Tyr No assertion criteria
  • p.His1109fs No assertion criteria KDM2B-related disorder

Conflicting classifications of pathogenicity 3

  • p.Arg887Trp Single submitter Inborn genetic diseases ⚠
  • p.Leu466Pro Single submitter Inborn genetic diseases ⚠
  • p.Asp632Tyr No assertion criteria neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities ⚠

Benign 15

Likely benign 41

Uncertain significance 229