Sugi Variant

Sugi Variant/KDM5B

KDM5B — 502 ClinVar variants

All ClinVar germline KDM5B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 290 flagged for review →

35 Pathogenic · 8 Pathogenic/Likely pathogenic · 53 Likely pathogenic · 15 Conflicting · 17 Benign · 3 Benign/Likely benign · 62 Likely benign · 309 Uncertain significance

Full KDM5B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 290

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 2

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

Predictors agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 201

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 201

Predictors split 81

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

All KDM5B variants

Pathogenic 35

Pathogenic/Likely pathogenic 8

  • p.Arg1047Ter Multiple submitters intellectual disability, autosomal recessive 65
  • p.Arg1253Ter Multiple submitters
  • p.Arg1281Ter Multiple submitters neurodevelopmental disorder
  • p.Arg1426Ter Multiple submitters Inborn genetic diseases
  • p.Arg259Ter Multiple submitters
  • p.Arg299Ter Multiple submitters intellectual disability, autosomal recessive 65
  • p.Arg441Ter Multiple submitters intellectual disability, autosomal recessive 65
  • p.Arg570Ter Multiple submitters intellectual disability, autosomal recessive 65

Likely pathogenic 53

  • c.2945+1G>A Multiple submitters intellectual disability, autosomal recessive 65
  • p.Arg1214Ter Multiple submitters KDM5B-related disorder
  • p.His122fs Multiple submitters intellectual disability, autosomal recessive 65
  • c.1538+1G>A Single submitter
  • c.1701+1G>T Single submitter intellectual disability, autosomal recessive 65
  • c.1702del Single submitter intellectual disability, autosomal recessive 65
  • c.1822-1G>A Single submitter Inborn genetic diseases
  • c.2016+1G>A Single submitter intellectual disability, autosomal recessive 65
  • c.205-2A>G Single submitter
  • c.2589+1G>A Single submitter intellectual disability, autosomal recessive 65
  • c.3423+1G>C Single submitter
  • c.3423+2T>C Single submitter
  • c.712-3_712-2delinsTG Single submitter
  • c.808+2T>C Single submitter
  • c.919-2A>G Single submitter intellectual disability, autosomal recessive 65
  • p.Ala238fs Single submitter
  • p.Ala388fs Single submitter intellectual disability, autosomal recessive 65
  • p.Arg1103fs Single submitter intellectual disability, autosomal recessive 65
  • p.Arg1382Ter Single submitter
  • p.Arg230Ter Single submitter intellectual disability, autosomal recessive 65
  • p.Arg751Ter Single submitter intellectual disability, autosomal recessive 65
  • p.Asn1075fs Single submitter intellectual disability, autosomal recessive 65
  • p.Cys1195Ter Single submitter intellectual disability, autosomal recessive 65
  • p.Cys1218fs Single submitter intellectual disability, autosomal recessive 65
  • p.Gln1182Ter Single submitter KDM5B-related disorder
  • p.Gln1378Ter Single submitter intellectual disability, autosomal recessive 65
  • p.Gln873fs Single submitter
  • p.Glu140Ter Single submitter intellectual disability, autosomal recessive 65
  • p.Glu94Lys Single submitter neurodevelopmental disorder
  • p.Gly1212fs Single submitter intellectual disability, autosomal recessive 65
  • p.Gly593fs Single submitter intellectual disability, autosomal recessive 65
  • p.Ile657fs Single submitter intellectual disability, autosomal recessive 65
  • p.Leu1370Ter Single submitter intellectual disability, autosomal recessive 65
  • p.Leu27Pro Single submitter ⚠
  • p.Leu782Ter Single submitter intellectual disability, autosomal recessive 65
  • p.Lys1428fs Single submitter
  • p.Phe185fs Single submitter
  • p.Phe368Ter Single submitter
  • p.Phe542fs Single submitter
  • p.Pro29Ser Single submitter Neurodevelopmental abnormality
  • p.Ser1312Ter Single submitter KDM5B-related disorder
  • p.Ser333fs Single submitter intellectual disability, autosomal recessive 65
  • p.Ser505Asn Single submitter neurodevelopmental disorder
  • p.Trp152Gly Single submitter neurodevelopmental disorder
  • p.Trp152Ter Single submitter
  • p.Trp39Ter Single submitter
  • p.Trp486Ter Single submitter intellectual disability, autosomal recessive 65
  • p.Tyr1288fs Single submitter
  • p.Tyr208Ter Single submitter
  • p.Arg801fs No assertion criteria intellectual disability, autosomal recessive 65
  • p.Cys1203Tyr No assertion criteria intellectual disability, autosomal recessive 65
  • p.Gln106Ter No assertion criteria KDM5B-related disorder
  • p.Ser507Ter No assertion criteria intellectual disability, autosomal recessive 65

Conflicting classifications of pathogenicity 15

Benign 17

Benign/Likely benign 3

Likely benign 62

Uncertain significance 309

Showing the top 300 by review status; the full set is in the sitemap.