Sugi Variant

Sugi Variant/UGP2

UGP2 — 72 ClinVar variants

All ClinVar germline UGP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →

1 Pathogenic/Likely pathogenic · 3 Benign · 17 Likely benign · 51 Uncertain significance

Full UGP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 43

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 lean, ClinVar uncertain 36

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

Predictors split 6

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

All UGP2 variants

Pathogenic/Likely pathogenic 1

  • p.Met12Val Multiple submitters developmental and epileptic encephalopathy, 83 ⚠

Benign 3

  • c.255+44G>A Multiple submitters developmental and epileptic encephalopathy, 83
  • c.-9G>C Multiple submitters
  • p.Leu363= Multiple submitters developmental and epileptic encephalopathy, 83

Likely benign 17

Uncertain significance 51