Sugi Variant

Sugi Variant/PDE6A

PDE6A — 936 ClinVar variants

All ClinVar germline PDE6A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 415 flagged for review →

68 Pathogenic · 19 Pathogenic/Likely pathogenic · 31 Likely pathogenic · 67 Conflicting · 43 Benign · 9 Benign/Likely benign · 236 Likely benign · 463 Uncertain significance

Full PDE6A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 415

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 1

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

Predictors agree, ClinVar conflicts 27

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

Predictors lean, ClinVar uncertain 238

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 238

Predictors split 149

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

All PDE6A variants

Pathogenic 68

Pathogenic/Likely pathogenic 19

  • c.1065+2T>A Multiple submitters retinitis pigmentosa
  • c.1263+1G>T Multiple submitters retinitis pigmentosa 40
  • c.1407+1G>C Multiple submitters inherited retinal dystrophy
  • c.1620+1G>A Multiple submitters inherited retinal dystrophy
  • c.1620+2T>A Multiple submitters retinitis pigmentosa 43
  • c.1927-1G>C Multiple submitters retinitis pigmentosa
  • c.2135+1G>T Multiple submitters retinitis pigmentosa 43
  • c.2275-1G>A Multiple submitters retinitis pigmentosa 43
  • p.Arg102Cys Multiple submitters retinitis pigmentosa
  • p.Arg102His Multiple submitters inherited retinal dystrophy
  • p.Arg257Ter Multiple submitters inherited retinal dystrophy
  • p.Arg544Trp Multiple submitters retinitis pigmentosa 43
  • p.Arg562Trp Multiple submitters retinitis pigmentosa
  • p.Asp778fs Multiple submitters inherited retinal dystrophy
  • p.Cys272Ter Multiple submitters inherited retinal dystrophy
  • p.Gln239Ter Multiple submitters retinitis pigmentosa 43
  • p.Gln695Ter Multiple submitters retinitis pigmentosa
  • p.Ile659fs Multiple submitters inherited retinal dystrophy
  • p.Leu575Pro Multiple submitters retinitis pigmentosa 43

Likely pathogenic 31

Conflicting classifications of pathogenicity 67

Benign 43

Benign/Likely benign 9

Likely benign 236

Uncertain significance 463

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