Sugi Variant

Sugi Variant/CEP135

CEP135 — 589 ClinVar variants

All ClinVar germline CEP135 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 258 flagged for review →

33 Pathogenic · 6 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 29 Conflicting · 47 Benign · 9 Benign/Likely benign · 200 Likely benign · 248 Uncertain significance

Full CEP135 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 258

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 11

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

Predictors lean, ClinVar uncertain 126

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

Predictors split 121

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

All CEP135 variants

Pathogenic 33

Pathogenic/Likely pathogenic 6

  • p.Arg1083Ter Multiple submitters microcephaly 8, primary, autosomal recessive
  • p.Arg292Ter Multiple submitters microcephaly 8, primary, autosomal recessive
  • p.His1048fs Multiple submitters CEP135-related disorder
  • p.Lys1043fs Multiple submitters microcephaly 8, primary, autosomal recessive
  • p.Lys1071Ter Multiple submitters microcephaly 8, primary, autosomal recessive
  • p.Ser997Ter Multiple submitters microcephaly 8, primary, autosomal recessive

Likely pathogenic 17

Conflicting classifications of pathogenicity 29

Benign 47

Benign/Likely benign 9

Likely benign 200

Uncertain significance 248