Sugi Variant

Sugi Variant/PAH

PAH — 1477 ClinVar variants

All ClinVar germline PAH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 410 flagged for review →

385 Pathogenic · 42 Pathogenic/Likely pathogenic · 364 Likely pathogenic · 13 Conflicting · 55 Benign · 5 Benign/Likely benign · 311 Likely benign · 302 Uncertain significance

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

⚑ Evidence disagreements 410

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 128

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

Predictors agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 109

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

Predictors split 170

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 170

All PAH variants

Pathogenic 385

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

Pathogenic/Likely pathogenic 42

Likely pathogenic 364

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 311

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

Uncertain significance 302

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