Sugi Variant

Sugi Variant/B9D2

B9D2 — 101 ClinVar variants

All ClinVar germline B9D2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →

2 Pathogenic · 3 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 1 Conflicting · 9 Benign · 4 Benign/Likely benign · 30 Likely benign · 47 Uncertain significance

Full B9D2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 46

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 lean, ClinVar uncertain 19

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

Predictors split 27

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

All B9D2 variants

Pathogenic 2

  • p.Leu36Pro Single submitter Joubert syndrome
  • p.Ser101Arg Single submitter Joubert syndrome and related disorders

Pathogenic/Likely pathogenic 3

  • p.Asp53fs Multiple submitters Meckel syndrome
  • p.Gly155Ser Multiple submitters Joubert syndrome and related disorders
  • p.Pro74Ser Multiple submitters Joubert syndrome and related disorders

Likely pathogenic 5

  • p.Ala13fs Single submitter Joubert syndrome and related disorders
  • p.Arg75fs Single submitter Joubert syndrome and related disorders
  • p.Gln43Ter Single submitter Meckel syndrome, type 10
  • p.His5Gln Single submitter Meckel syndrome, type 10
  • p.Tyr56Ter Single submitter Meckel syndrome, type 10

Conflicting classifications of pathogenicity 1

Benign 9

Benign/Likely benign 4

  • c.88+6C>T Multiple submitters Meckel syndrome
  • p.Ile61= Multiple submitters Joubert syndrome
  • p.Phe65= Multiple submitters Meckel syndrome
  • p.Tyr171= Multiple submitters Meckel syndrome

Likely benign 30

Uncertain significance 47