Sugi Variant

Sugi Variant/IVD

IVD — 803 ClinVar variants

All ClinVar germline IVD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 177 flagged for review →

40 Pathogenic · 42 Pathogenic/Likely pathogenic · 89 Likely pathogenic · 37 Conflicting · 45 Benign · 9 Benign/Likely benign · 332 Likely benign · 209 Uncertain significance

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

⚑ Evidence disagreements 177

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 7

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

Predictors agree, ClinVar conflicts 21

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

Predictors lean, ClinVar uncertain 105

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

Predictors split 44

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

All IVD variants

Pathogenic 40

Pathogenic/Likely pathogenic 42

Likely pathogenic 89

Conflicting classifications of pathogenicity 37

Benign 45

Benign/Likely benign 9

  • c.1138+9T>G Multiple submitters isovaleric acidemia
  • c.235-19T>C Multiple submitters isovaleric acidemia
  • c.551-18C>T Multiple submitters isovaleric acidemia
  • c.-48G>A Multiple submitters isovaleric acidemia
  • c.*2285C>G Multiple submitters isovaleric acidemia
  • p.Ala365= Multiple submitters isovaleric acidemia
  • p.Asp374= Multiple submitters isovaleric acidemia
  • p.Gly199= Multiple submitters isovaleric acidemia
  • p.Leu77= Multiple submitters isovaleric acidemia

Likely benign 332

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 209