Sugi Variant

Sugi Variant/B9D1

B9D1 — 274 ClinVar variants

All ClinVar germline B9D1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

7 Pathogenic · 3 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 16 Conflicting · 15 Benign · 6 Benign/Likely benign · 116 Likely benign · 106 Uncertain significance

Full B9D1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 56

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

Predictors split 25

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

All B9D1 variants

Pathogenic 7

Pathogenic/Likely pathogenic 3

Likely pathogenic 5

Conflicting classifications of pathogenicity 16

Benign 15

Benign/Likely benign 6

  • c.245-19C>A Multiple submitters Joubert syndrome
  • c.-110G>A Multiple submitters Meckel syndrome, type 9
  • c.-70G>A Multiple submitters Meckel syndrome, type 9
  • p.Arg61Trp Multiple submitters Meckel syndrome ⚠
  • p.Leu194= Multiple submitters Meckel syndrome
  • p.Pro79= Multiple submitters Joubert syndrome

Likely benign 116

Uncertain significance 106