Sugi Variant

Sugi Variant/ARL2BP

ARL2BP — 122 ClinVar variants

All ClinVar germline ARL2BP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →

12 Pathogenic · 5 Likely pathogenic · 5 Conflicting · 1 Benign · 3 Benign/Likely benign · 36 Likely benign · 60 Uncertain significance

Full ARL2BP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 51

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 1

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

Predictors lean, ClinVar uncertain 41

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

Predictors split 9

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

All ARL2BP variants

Pathogenic 12

  • c.207+1G>A Multiple submitters ARL2BP-related disorder
  • p.Glu79Ter Single submitter
  • p.Met33fs Single submitter
  • p.Phe13fs Single submitter retinitis pigmentosa
  • p.Pro64fs Single submitter
  • p.Tyr48Ter Single submitter
  • p.Tyr69Ter Single submitter
  • c.101-1G>C No assertion criteria retinitis pigmentosa with or without situs inversus
  • c.207+1G>T No assertion criteria retinitis pigmentosa with or without situs inversus
  • c.294-1G>C No assertion criteria retinitis pigmentosa with or without situs inversus
  • c.38+2T>G No assertion criteria retinitis pigmentosa
  • p.Ser8fs No assertion criteria retinitis pigmentosa with or without situs inversus

Likely pathogenic 5

Conflicting classifications of pathogenicity 5

Benign 1

Benign/Likely benign 3

Likely benign 36

Uncertain significance 60