Sugi Variant

Sugi Variant/PDE6C

PDE6C — 735 ClinVar variants

All ClinVar germline PDE6C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 314 flagged for review →

54 Pathogenic · 16 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 43 Conflicting · 19 Benign · 6 Benign/Likely benign · 243 Likely benign · 321 Uncertain significance

Full PDE6C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 314

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 9

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

Predictors lean, ClinVar uncertain 178

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 178

Predictors split 120

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

All PDE6C variants

Pathogenic 54

Pathogenic/Likely pathogenic 16

Likely pathogenic 33

Conflicting classifications of pathogenicity 43

Benign 19

Benign/Likely benign 6

Likely benign 243

Uncertain significance 321

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