Sugi Variant

Sugi Variant/CIB2

CIB2 — 241 ClinVar variants

All ClinVar germline CIB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →

16 Pathogenic · 3 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 7 Conflicting · 23 Benign · 3 Benign/Likely benign · 99 Likely benign · 83 Uncertain significance

Full CIB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 80

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 46

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

Predictors split 32

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

All CIB2 variants

Pathogenic 16

  • p.Arg33Ter Multiple submitters Usher syndrome
  • c.542+1G>A Single submitter
  • p.Arg104Ter Single submitter
  • p.Asp14fs Single submitter
  • p.Asp178fs Single submitter autosomal recessive nonsyndromic hearing loss 48
  • p.Glu105fs Single submitter
  • p.Glu129Ter Single submitter
  • p.Ile59fs Single submitter autosomal recessive nonsyndromic hearing loss 48
  • p.Lys125fs Single submitter autosomal recessive nonsyndromic hearing loss 48
  • p.Met94fs Single submitter
  • p.Pro177fs Single submitter autosomal recessive nonsyndromic hearing loss 48
  • p.Ser101fs Single submitter
  • p.Ser96fs Single submitter autosomal recessive nonsyndromic hearing loss 48
  • p.Asp159fs No assertion criteria autosomal recessive nonsyndromic hearing loss 48
  • p.Glu64Asp No assertion criteria autosomal recessive nonsyndromic hearing loss 48
  • p.Ile123Thr No assertion criteria autosomal recessive nonsyndromic hearing loss 48

Pathogenic/Likely pathogenic 3

  • p.Arg66Trp Multiple submitters inherited retinal dystrophy ⚠
  • p.Glu100fs Multiple submitters Rare genetic deafness
  • p.Cys99Trp No assertion criteria autosomal recessive nonsyndromic hearing loss 48

Likely pathogenic 7

  • c.199-125G>A Single submitter CIB2-related disorder
  • c.199-1G>A Single submitter autosomal recessive nonsyndromic hearing loss 48
  • c.347-2A>C Single submitter
  • p.Gln12Ter Single submitter autosomal recessive nonsyndromic hearing loss 48
  • p.Glu129fs Single submitter autosomal recessive nonsyndromic hearing loss 48
  • p.Phe91Ser Single submitter autosomal recessive nonsyndromic hearing loss 48
  • p.Asn118fs No assertion criteria

Conflicting classifications of pathogenicity 7

Benign 23

Benign/Likely benign 3

Likely benign 99

Uncertain significance 83