Sugi Variant

Sugi Variant/B4GALNT1

B4GALNT1 — 386 ClinVar variants

All ClinVar germline B4GALNT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 176 flagged for review →

22 Pathogenic · 7 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 7 Conflicting · 27 Benign · 6 Benign/Likely benign · 129 Likely benign · 177 Uncertain significance

Full B4GALNT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 176

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 102

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

Predictors split 72

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

All B4GALNT1 variants

Pathogenic 22

Pathogenic/Likely pathogenic 7

  • c.490+1G>A Multiple submitters Spastic paraplegia
  • c.532-2A>G Multiple submitters Spastic paraplegia
  • p.Arg47fs Multiple submitters Spastic paraplegia
  • p.Arg505Cys Multiple submitters hereditary spastic paraplegia 26
  • p.Arg505His Multiple submitters hereditary spastic paraplegia 26
  • p.Leu89fs Multiple submitters Inborn genetic diseases
  • p.Asp433Ala No assertion criteria hereditary spastic paraplegia 26

Likely pathogenic 11

Conflicting classifications of pathogenicity 7

Benign 27

Benign/Likely benign 6

Likely benign 129

Uncertain significance 177