Sugi Variant

Sugi Variant/AP3B2

AP3B2 — 906 ClinVar variants

All ClinVar germline AP3B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 324 flagged for review →

27 Pathogenic · 5 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 17 Conflicting · 20 Benign · 8 Benign/Likely benign · 451 Likely benign · 361 Uncertain significance

Full AP3B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 324

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 3

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

Predictors lean, ClinVar uncertain 156

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 156

Predictors split 165

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 165

All AP3B2 variants

Pathogenic 27

Pathogenic/Likely pathogenic 5

  • p.Gln839Ter Multiple submitters developmental and epileptic encephalopathy, 48
  • p.Pro993fs Multiple submitters developmental and epileptic encephalopathy, 48
  • p.Thr861fs Multiple submitters
  • p.Tyr94fs Multiple submitters developmental and epileptic encephalopathy, 48
  • p.Val653fs Multiple submitters developmental and epileptic encephalopathy, 48

Likely pathogenic 17

Conflicting classifications of pathogenicity 17

Benign 20

Benign/Likely benign 8

  • c.113+7G>A Multiple submitters intellectual disability
  • c.3155+10C>T Multiple submitters developmental and epileptic encephalopathy, 48
  • p.Ala77= Multiple submitters
  • p.Gln256= Multiple submitters
  • p.Glu103= Multiple submitters developmental and epileptic encephalopathy, 48
  • p.Glu888Lys Multiple submitters developmental and epileptic encephalopathy, 48
  • p.Ile31= Multiple submitters developmental and epileptic encephalopathy, 48
  • p.Lys1003= Multiple submitters

Likely benign 451

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 361

Showing the top 300 by review status; the full set is in the sitemap.