Sugi Variant

Sugi Variant/PIGQ

PIGQ — 775 ClinVar variants

All ClinVar germline PIGQ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 286 flagged for review →

31 Pathogenic · 6 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 29 Conflicting · 52 Benign · 6 Benign/Likely benign · 296 Likely benign · 349 Uncertain significance

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

⚑ Evidence disagreements 286

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 24

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

Predictors lean, ClinVar uncertain 210

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 210

Predictors split 52

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

All PIGQ variants

Pathogenic 31

Pathogenic/Likely pathogenic 6

  • c.942+1G>A Multiple submitters Inborn genetic diseases
  • p.Gln140Ter Multiple submitters developmental and epileptic encephalopathy
  • p.Gln271Ter Multiple submitters epilepsy
  • p.Gly17Arg Multiple submitters developmental and epileptic encephalopathy, 77
  • p.Leu81fs Multiple submitters epilepsy
  • p.Tyr400del Multiple submitters developmental and epileptic encephalopathy, 77

Likely pathogenic 6

Conflicting classifications of pathogenicity 29

Benign 52

Benign/Likely benign 6

Likely benign 296

Uncertain significance 349

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