Sugi Variant

Sugi Variant/SLC2A9

SLC2A9 — 294 ClinVar variants

All ClinVar germline SLC2A9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 7 Conflicting · 57 Benign · 23 Benign/Likely benign · 72 Likely benign · 117 Uncertain significance

Full SLC2A9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 99

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 2

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

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 72

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

Predictors split 21

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

All SLC2A9 variants

Pathogenic 5

Pathogenic/Likely pathogenic 2

  • p.Ile119fs Multiple submitters hypouricemia, renal, 2
  • p.Leu75Arg Multiple submitters SLC2A9-related disorder

Likely pathogenic 11

Conflicting classifications of pathogenicity 7

Benign 57

Benign/Likely benign 23

  • c.1292-6C>T Multiple submitters
  • c.150+9G>A Multiple submitters hypouricemia, renal, 2
  • c.250-9T>C Multiple submitters hypouricemia, renal, 2
  • c.681+13C>T Multiple submitters hypouricemia, renal, 2
  • c.815-18G>A Multiple submitters
  • c.-8T>G Multiple submitters hypouricemia, renal, 2
  • p.Ala24= Multiple submitters hypouricemia, renal, 2
  • p.Arg300His Multiple submitters hypouricemia, renal, 2
  • p.Asp281= Multiple submitters hypouricemia, renal, 2
  • p.Gly66= Multiple submitters hypouricemia, renal, 2
  • p.His407= Multiple submitters hypouricemia, renal, 2
  • p.Ile168= Multiple submitters hypouricemia, renal, 2
  • p.Ile433= Multiple submitters hypouricemia, renal, 2
  • p.Phe117= Multiple submitters hypouricemia, renal, 2
  • p.Pro222= Multiple submitters hypouricemia, renal, 2
  • p.Pro434= Multiple submitters hypouricemia, renal, 2
  • p.Ser303= Multiple submitters hypouricemia, renal, 2
  • p.Ser515= Multiple submitters hypouricemia, renal, 2
  • p.Thr319= Multiple submitters hypouricemia, renal, 2
  • p.Thr401= Multiple submitters hypouricemia, renal, 2
  • p.Thr456= Multiple submitters hypouricemia, renal, 2
  • p.Val270Ala Multiple submitters hypouricemia, renal, 2
  • p.Val295Met Multiple submitters hypouricemia, renal, 2

Likely benign 72

Uncertain significance 117