Sugi Variant

Sugi Variant/PDE6B

PDE6B — 1246 ClinVar variants

All ClinVar germline PDE6B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 548 flagged for review →

87 Pathogenic · 18 Pathogenic/Likely pathogenic · 58 Likely pathogenic · 92 Conflicting · 55 Benign · 15 Benign/Likely benign · 341 Likely benign · 580 Uncertain significance

Full PDE6B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 548

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 2

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

Predictors agree, ClinVar conflicts 41

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

Predictors lean, ClinVar uncertain 305

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 305

Predictors split 200

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 200

All PDE6B variants

Pathogenic 87

Pathogenic/Likely pathogenic 18

  • c.1107+3A>G Multiple submitters retinitis pigmentosa 40
  • c.1468-2A>G Multiple submitters inherited retinal dystrophy
  • c.2021+2T>G Multiple submitters retinitis pigmentosa
  • c.992+1G>A Multiple submitters retinitis pigmentosa 40
  • p.Ala733Pro Multiple submitters retinitis pigmentosa 40
  • p.Arg552Gln Multiple submitters inherited retinal dystrophy
  • p.Arg560Cys Multiple submitters inherited retinal dystrophy
  • p.Asn643fs Multiple submitters inherited retinal dystrophy
  • p.Asp600Asn Multiple submitters retinitis pigmentosa 40
  • p.Asp668Gly Multiple submitters retinitis pigmentosa
  • p.Asp776Asn Multiple submitters inherited retinal dystrophy
  • p.Gln567Ter Multiple submitters inherited retinal dystrophy
  • p.Glu204Ter Multiple submitters retinitis pigmentosa 40
  • p.Glu296Ter Multiple submitters Leber congenital amaurosis
  • p.Glu61Ter Multiple submitters inherited retinal dystrophy
  • p.Leu514fs Multiple submitters PDE6B-related disorder
  • p.Met714Leu Multiple submitters inherited retinal dystrophy
  • p.Tyr645Ter Multiple submitters inherited retinal dystrophy

Likely pathogenic 58

Conflicting classifications of pathogenicity 92

  • c.1060-13G>A Single submitter congenital stationary night blindness autosomal dominant 2
  • c.1108-9C>T Single submitter congenital stationary night blindness autosomal dominant 2
  • c.1258-10T>A Single submitter
  • c.1401+4C>T Single submitter retinitis pigmentosa
  • c.1401+5G>A Single submitter congenital stationary night blindness autosomal dominant 2
  • c.1920+2T>C Single submitter
  • c.2193+15C>T Single submitter
  • c.2193+5G>A Single submitter retinitis pigmentosa
  • c.2269-11C>T Single submitter congenital stationary night blindness autosomal dominant 2
  • c.2352+13C>T Single submitter congenital stationary night blindness autosomal dominant 2
  • c.2352+14G>A Single submitter retinitis pigmentosa
  • c.2352+3G>A Single submitter congenital stationary night blindness autosomal dominant 2
  • c.2353-13C>T Single submitter retinitis pigmentosa
  • c.2504-1G>C Single submitter retinitis pigmentosa
  • c.711+10C>T Single submitter retinitis pigmentosa
  • c.852+12G>A Single submitter congenital stationary night blindness autosomal dominant 2
  • c.*474C>G Single submitter retinitis pigmentosa
  • c.*764G>A Single submitter retinitis pigmentosa
  • c.*79A>G Single submitter retinitis pigmentosa
  • p.Ala666Thr Single submitter retinitis pigmentosa ⚠
  • p.Ala765Pro Single submitter congenital stationary night blindness autosomal dominant 2 ⚠
  • p.Ala8Val Single submitter Inborn genetic diseases ⚠
  • p.Arg100Cys Single submitter retinitis pigmentosa ⚠
  • p.Arg100His Single submitter PDE6B-related disorder ⚠
  • p.Arg20His Single submitter retinitis pigmentosa ⚠
  • p.Arg265Gln Single submitter retinitis pigmentosa ⚠
  • p.Arg309Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg472Cys Single submitter congenital stationary night blindness autosomal dominant 2 ⚠
  • p.Arg48Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg531Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg542Trp Single submitter congenital stationary night blindness autosomal dominant 2 ⚠
  • p.Arg602His Single submitter retinitis pigmentosa ⚠
  • p.Arg627Gly Single submitter retinitis pigmentosa ⚠
  • p.Arg74Cys Single submitter retinitis pigmentosa ⚠
  • p.Arg9Trp Single submitter Inborn genetic diseases ⚠
  • p.Asn356Asp Single submitter inherited retinal dystrophy ⚠
  • p.Asn649Asp Single submitter Inborn genetic diseases ⚠
  • p.Asp205= Single submitter retinitis pigmentosa
  • p.Asp406= Single submitter congenital stationary night blindness autosomal dominant 2
  • p.Asp433Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp45Asn Single submitter inherited retinal dystrophy ⚠
  • p.Asp718Asn Single submitter retinitis pigmentosa ⚠
  • p.Asp718Tyr Single submitter inherited retinal dystrophy ⚠
  • p.Asp90= Single submitter congenital stationary night blindness autosomal dominant 2
  • p.Cys44Trp Single submitter retinitis pigmentosa ⚠
  • p.Gln99= Single submitter retinitis pigmentosa
  • p.Glu105Lys Single submitter inherited retinal dystrophy ⚠
  • p.Glu129Lys Single submitter retinitis pigmentosa 40 ⚠
  • p.Glu152Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu166Lys Single submitter congenital stationary night blindness autosomal dominant 2 ⚠
  • p.Glu271Lys Single submitter inherited retinal dystrophy ⚠
  • p.Glu415Lys Single submitter retinitis pigmentosa 40 ⚠
  • p.Glu68Asp Single submitter congenital stationary night blindness autosomal dominant 2 ⚠
  • p.Glu791Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly137Arg Single submitter retinitis pigmentosa ⚠
  • p.Gly302Asp Single submitter retinitis pigmentosa ⚠
  • p.Gly323Ser Single submitter retinitis pigmentosa ⚠
  • p.Gly39Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly562Asp Single submitter retinitis pigmentosa 40 ⚠
  • p.His322= Single submitter retinitis pigmentosa
  • p.His620Arg Single submitter inherited retinal dystrophy ⚠
  • p.Ile70Val Single submitter Inborn genetic diseases ⚠
  • p.Leu106= Single submitter retinitis pigmentosa
  • p.Leu228Ile Single submitter congenital stationary night blindness autosomal dominant 2 ⚠
  • p.Leu268= Single submitter inherited retinal dystrophy
  • p.Leu527Pro Single submitter inherited retinal dystrophy ⚠
  • p.Lys692Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys824Glu Single submitter retinitis pigmentosa ⚠
  • p.Met148Leu Single submitter Inborn genetic diseases ⚠
  • p.Met523Arg Single submitter retinitis pigmentosa ⚠
  • p.Phe247Ile Single submitter retinitis pigmentosa ⚠
  • p.Phe499Leu Single submitter ⚠
  • p.Phe545= Single submitter congenital stationary night blindness autosomal dominant 2
  • p.Phe632= Single submitter retinitis pigmentosa
  • p.Phe95= Single submitter retinitis pigmentosa
  • p.Pro115Leu Single submitter retinitis pigmentosa ⚠
  • p.Pro158Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser161Asn Single submitter congenital stationary night blindness autosomal dominant 2 ⚠
  • p.Ser342= Single submitter congenital stationary night blindness autosomal dominant 2
  • p.Ser361= Single submitter congenital stationary night blindness autosomal dominant 2
  • p.Ser700Thr Single submitter congenital stationary night blindness autosomal dominant 2 ⚠
  • p.Thr233= Single submitter congenital stationary night blindness autosomal dominant 2
  • p.Thr263= Single submitter congenital stationary night blindness autosomal dominant 2
  • p.Thr568Met Single submitter retinitis pigmentosa ⚠
  • p.Thr57Met Single submitter retinitis pigmentosa ⚠
  • p.Thr850Ala Single submitter Inborn genetic diseases ⚠
  • p.Tyr219His Single submitter retinitis pigmentosa ⚠
  • p.Tyr267Phe Single submitter Inborn genetic diseases ⚠
  • p.Tyr502= Single submitter retinitis pigmentosa
  • p.Val186Ile Single submitter inherited retinal dystrophy ⚠
  • p.Val530= Single submitter congenital stationary night blindness autosomal dominant 2
  • p.Val782Met Single submitter retinitis pigmentosa ⚠

Benign 55

Benign/Likely benign 15

  • c.852+15G>A Multiple submitters
  • c.928-175G>A Multiple submitters
  • c.928-9_940dup Multiple submitters retinitis pigmentosa
  • c.*20C>A Multiple submitters congenital stationary night blindness autosomal dominant 2
  • c.*21C>T Multiple submitters retinitis pigmentosa
  • c.*414C>T Multiple submitters congenital stationary night blindness autosomal dominant 2
  • p.Ala34Val Multiple submitters congenital stationary night blindness autosomal dominant 2
  • p.Arg48Gln Multiple submitters retinitis pigmentosa
  • p.Arg602= Multiple submitters
  • p.Asp49Tyr Multiple submitters retinitis pigmentosa
  • p.Lys763= Multiple submitters congenital stationary night blindness autosomal dominant 2
  • p.Phe777= Multiple submitters congenital stationary night blindness autosomal dominant 2
  • p.Ser291= Multiple submitters retinitis pigmentosa
  • p.Thr305= Multiple submitters retinitis pigmentosa
  • p.Val835= Multiple submitters congenital stationary night blindness autosomal dominant 2

Likely benign 341

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

Uncertain significance 580

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