Sugi Variant

Sugi Variant/NR2E3

NR2E3 — 853 ClinVar variants

All ClinVar germline NR2E3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 302 flagged for review →

50 Pathogenic · 38 Pathogenic/Likely pathogenic · 61 Likely pathogenic · 56 Conflicting · 7 Benign · 14 Benign/Likely benign · 287 Likely benign · 340 Uncertain significance

Full NR2E3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 302

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 26

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

Predictors lean, ClinVar uncertain 226

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 226

Predictors split 49

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

All NR2E3 variants

Pathogenic 50

Pathogenic/Likely pathogenic 38

  • c.1101delG Multiple submitters enhanced S-cone syndrome
  • c.119-2A>C Multiple submitters retinitis pigmentosa 37
  • c.119-2A>T Multiple submitters enhanced S-cone syndrome
  • c.225_245+6del Multiple submitters enhanced S-cone syndrome
  • c.349+5G>C Multiple submitters NR2E3-related disorder
  • c.996_997del Multiple submitters enhanced S-cone syndrome
  • p.Ala102Asp Multiple submitters retinitis pigmentosa 37
  • p.Ala151fs Multiple submitters enhanced S-cone syndrome
  • p.Ala256Glu Multiple submitters retinitis pigmentosa 37
  • p.Arg104Gln Multiple submitters retinitis pigmentosa 37
  • p.Arg104Trp Multiple submitters NR2E3-related disorder
  • p.Arg122Cys Multiple submitters NR2E3-related disorder
  • p.Arg125Ter Multiple submitters NR2E3-related disorder
  • p.Arg292fs Multiple submitters enhanced S-cone syndrome
  • p.Arg309Gly Multiple submitters NR2E3-related disorder
  • p.Arg311Gln Multiple submitters NR2E3-related disorder ⚠
  • p.Arg76Gln Multiple submitters ENHANCED S-CONE SYNDROME 1
  • p.Arg76Trp Multiple submitters NR2E3-related disorder
  • p.Arg97His Multiple submitters NR2E3-related disorder
  • p.Asn65_Cys67del Multiple submitters retinitis pigmentosa 37
  • p.Asp316Asn Multiple submitters NR2E3-related disorder
  • p.Cys103Ter Multiple submitters NR2E3-related disorder
  • p.Cys215Ter Multiple submitters enhanced S-cone syndrome
  • p.Gln101_Cys108del Multiple submitters enhanced S-cone syndrome
  • p.Gln348Ter Multiple submitters enhanced S-cone syndrome
  • p.Gln84Ter Multiple submitters enhanced S-cone syndrome
  • p.Glu136Ter Multiple submitters NR2E3-related disorder
  • p.Gly112_Met113insTer Multiple submitters enhanced S-cone syndrome
  • p.Gly56Arg Multiple submitters inherited retinal dystrophy
  • p.Leu270fs Multiple submitters enhanced S-cone syndrome
  • p.Pro205fs Multiple submitters enhanced S-cone syndrome
  • p.Pro276fs Multiple submitters NR2E3-related disorder
  • p.Pro365= Multiple submitters inherited retinal dystrophy
  • p.Pro376fs Multiple submitters enhanced S-cone syndrome
  • p.Ser242fs Multiple submitters inherited retinal dystrophy
  • p.Trp268Ter Multiple submitters enhanced S-cone syndrome
  • p.Tyr81fs Multiple submitters enhanced S-cone syndrome
  • p.Val342Ala Multiple submitters NR2E3-related disorder

Likely pathogenic 61

Conflicting classifications of pathogenicity 56

Benign 7

Benign/Likely benign 14

Likely benign 287

Uncertain significance 340

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