Sugi Variant

Sugi Variant/APOC2

APOC2 — 99 ClinVar variants

All ClinVar germline APOC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 3 Conflicting · 7 Benign · 46 Likely benign · 34 Uncertain significance

Full APOC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 30

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 20

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

Predictors split 8

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

All APOC2 variants

Pathogenic 6

  • p.Ala66fs Multiple submitters Cardiovascular phenotype
  • c.216-1G>A Single submitter familial apolipoprotein C-II deficiency
  • p.Arg4fs Single submitter
  • p.Leu9fs Single submitter
  • p.Asp91fs No assertion criteria familial apolipoprotein C-II deficiency
  • p.Trp48Arg No assertion criteria APOLIPOPROTEIN C-II (WAKAYAMA)

Pathogenic/Likely pathogenic 1

  • p.Gln92Ter Multiple submitters familial apolipoprotein C-II deficiency

Likely pathogenic 2

  • p.Gln25Ter Single submitter Cardiovascular phenotype
  • p.Met1Val Single submitter familial apolipoprotein C-II deficiency

Conflicting classifications of pathogenicity 3

  • c.56-11T>C Single submitter familial apolipoprotein C-II deficiency
  • p.Lys41Thr Single submitter Cardiovascular phenotype ⚠
  • p.Thr3Ile Single submitter Cardiovascular phenotype ⚠

Benign 7

Likely benign 46

Uncertain significance 34