Sugi Variant

Sugi Variant/OTUD6B

OTUD6B — 97 ClinVar variants

All ClinVar germline OTUD6B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →

9 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 5 Conflicting · 3 Benign · 13 Likely benign · 59 Uncertain significance

Full OTUD6B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 46

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 29

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

Predictors split 15

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

All OTUD6B variants

Pathogenic 9

  • p.Arg115Ter Multiple submitters intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • p.Glu211Ter Multiple submitters intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • p.His63fs Multiple submitters intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • c.797+1G>A Single submitter
  • c.83-1del Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • c.83-2A>G Single submitter Dysmorphic features
  • p.Leu127fs Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • p.Pro96fs Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • p.Thr175fs Single submitter

Pathogenic/Likely pathogenic 2

  • p.Glu65fs Multiple submitters intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • p.Val176fs Multiple submitters Inborn genetic diseases

Likely pathogenic 6

  • p.Gln69Ter Multiple submitters OTUD6B-related disorder
  • p.Glu134Gly Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • p.Leu229Pro Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies ⚠
  • p.Lys161Ter Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • p.Tyr186Cys Single submitter Dysmorphic features
  • p.Ile244Arg No assertion criteria intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

Conflicting classifications of pathogenicity 5

  • c.-15G>A Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • c.-39A>G Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • p.Ala130Asp Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies ⚠
  • p.Ser280Leu Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies ⚠
  • p.Val220Ile Single submitter intellectual disability ⚠

Benign 3

  • c.316-11G>C Multiple submitters intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • p.Gln47= Multiple submitters intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • p.Arg283Gln Single submitter

Likely benign 13

Uncertain significance 59

  • c.316-1622G>A Multiple submitters intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • p.Ala184Thr Multiple submitters intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • p.Arg105Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Pro38Ala Multiple submitters Inborn genetic diseases ⚠
  • c.19G>A Single submitter Inborn genetic diseases
  • c.31A>G Single submitter Inborn genetic diseases
  • c.-12T>G Single submitter Inborn genetic diseases
  • c.-14G>A Single submitter Inborn genetic diseases
  • c.-3G>A Single submitter Inborn genetic diseases
  • p.Ala109Gly Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies ⚠
  • p.Ala110Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala224Val Single submitter Inborn genetic diseases ⚠
  • p.Arg105= Single submitter
  • p.Arg118Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg16Trp Single submitter Inborn genetic diseases
  • p.Arg283Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg44Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg6Ser Single submitter Inborn genetic diseases
  • p.Arg97Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg97Trp Single submitter Inborn genetic diseases ⚠
  • p.Asn126Thr Single submitter ⚠
  • p.Asn202Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn35Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp218Ala Single submitter Inborn genetic diseases ⚠
  • p.Gln188Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln188Ter Single submitter
  • p.Gln228His Single submitter Inborn genetic diseases ⚠
  • p.Glu164Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu256Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu58Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu58Val Single submitter Inborn genetic diseases ⚠
  • p.Gly226Val Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies ⚠
  • p.Gly32Asp Single submitter Inborn genetic diseases ⚠
  • p.His132Tyr Single submitter Inborn genetic diseases ⚠
  • p.His63Gln Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies ⚠
  • p.Ile219Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile287fs Single submitter
  • p.Ile79Leu Single submitter Inborn genetic diseases ⚠
  • p.Leu231Pro Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies ⚠
  • p.Leu231Val Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies ⚠
  • p.Leu9Val Single submitter ⚠
  • p.Lys62Arg Single submitter Inborn genetic diseases ⚠
  • p.Met33Lys Single submitter Inborn genetic diseases ⚠
  • p.Met59Thr Single submitter Inborn genetic diseases
  • p.Phe194Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro13Leu Single submitter Inborn genetic diseases
  • p.Pro201Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro250Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser189Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser189Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser235Pro Single submitter ⚠
  • p.Ser259Ter Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • p.Thr14Asn Single submitter Inborn genetic diseases
  • p.Thr14Ile Single submitter Inborn genetic diseases
  • p.Thr199Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr49Ala Single submitter Inborn genetic diseases ⚠
  • p.Tyr160Cys Single submitter intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies ⚠
  • p.Val266Leu Single submitter ⚠
  • p.Asn85Lys No assertion criteria OTUD6B-related disorder ⚠