Sugi Variant

Sugi Variant/GALNT2

GALNT2 — 203 ClinVar variants

All ClinVar germline GALNT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

3 Pathogenic · 5 Likely pathogenic · 3 Conflicting · 21 Benign · 4 Benign/Likely benign · 81 Likely benign · 86 Uncertain significance

Full GALNT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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 52

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

Predictors split 20

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

All GALNT2 variants

Pathogenic 3

  • p.Arg200Ter Multiple submitters congenital disorder of glycosylation, type iit
  • p.Gln289Ter Single submitter congenital disorder of glycosylation, type iit
  • p.Tyr99Ter No assertion criteria congenital disorder of glycosylation, type iit

Likely pathogenic 5

  • p.Arg208Gln Single submitter congenital disorder of glycosylation, type iit
  • p.Arg210Pro Single submitter congenital disorder of glycosylation, type iit
  • p.Glu231Ter Single submitter congenital disorder of glycosylation, type iit
  • p.His359Arg Single submitter
  • p.Phe104Ser Single submitter congenital disorder of glycosylation, type iit

Conflicting classifications of pathogenicity 3

Benign 21

Benign/Likely benign 4

Likely benign 81

Uncertain significance 86