Sugi Variant

Sugi Variant/PAH

PAH — 1485 ClinVar variants

All ClinVar germline PAH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 384 flagged for review →

389 Pathogenic · 36 Pathogenic/Likely pathogenic · 368 Likely pathogenic · 13 Conflicting · 55 Benign · 5 Benign/Likely benign · 312 Likely benign · 307 Uncertain significance

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

⚑ Evidence disagreements 384

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 125

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

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 136

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

Predictors split 118

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

All PAH variants

Pathogenic 389

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

Pathogenic/Likely pathogenic 36

Likely pathogenic 368

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

Conflicting classifications of pathogenicity 13

Benign 55

Benign/Likely benign 5

Likely benign 312

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

Uncertain significance 307

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