Sugi Variant

Sugi Variant/COPB2

COPB2 — 207 ClinVar variants

All ClinVar germline COPB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →

5 Pathogenic · 5 Likely pathogenic · 6 Conflicting · 14 Benign · 3 Benign/Likely benign · 58 Likely benign · 116 Uncertain significance

Full COPB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 114

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 65

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

Predictors split 47

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

All COPB2 variants

Pathogenic 5

  • p.Val222fs Multiple submitters osteoporosis, childhood- or juvenile-onset, with developmental delay
  • c.2554dupG Single submitter Inborn genetic diseases
  • p.Val83fs Single submitter osteoporosis, childhood- or juvenile-onset, with developmental delay
  • c.1206-2A>G No assertion criteria osteoporosis, childhood- or juvenile-onset, with developmental delay
  • p.Arg254Cys No assertion criteria microcephaly 19, primary, autosomal recessive

Likely pathogenic 5

  • c.1401+2T>A Single submitter osteoporosis, childhood- or juvenile-onset, with developmental delay
  • p.Arg61Ter Single submitter
  • p.Glu493fs Single submitter osteoporosis, childhood- or juvenile-onset, with developmental delay
  • p.His556fs Single submitter osteoporosis, childhood- or juvenile-onset, with developmental delay
  • p.Ser423fs Single submitter osteoporosis, childhood- or juvenile-onset, with developmental delay

Conflicting classifications of pathogenicity 6

Benign 14

Benign/Likely benign 3

  • p.Asn285Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ile114= Multiple submitters microcephaly 19, primary, autosomal recessive
  • p.Pro862= Multiple submitters

Likely benign 58

Uncertain significance 116