Sugi Variant

Sugi Variant/NR2F2

NR2F2 — 191 ClinVar variants

All ClinVar germline NR2F2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →

23 Pathogenic · 3 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 1 Conflicting · 11 Benign · 1 Benign/Likely benign · 56 Likely benign · 80 Uncertain significance

Full NR2F2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 76

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 1

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

Predictors lean, ClinVar uncertain 60

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

Predictors split 14

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

All NR2F2 variants

Pathogenic 23

  • c.442+1G>T Single submitter
  • c.443-2A>T Single submitter NR2F2-related disorder
  • c.971-12A>G Single submitter
  • p.Arg366Pro Single submitter Inborn genetic diseases
  • p.Asn120fs Single submitter congenital heart defects, multiple types, 4
  • p.Cys343fs Single submitter
  • p.Gln132Ter Single submitter
  • p.Gln163fs Single submitter
  • p.Gln202Ter Single submitter congenital heart defects, multiple types, 4
  • p.Gln22Ter Single submitter Inborn genetic diseases
  • p.Gln259Ter Single submitter Inborn genetic diseases
  • p.Gln73Ter Single submitter congenital heart defects, multiple types, 4
  • p.Glu214fs Single submitter congenital heart defects, multiple types, 4
  • p.Glu78Ter Single submitter congenital heart defects, multiple types, 4
  • p.Ile123Asn Single submitter congenital heart defects, multiple types, 4
  • p.Pro33fs Single submitter congenital heart defects, multiple types, 4
  • p.Thr193fs Single submitter congenital heart defects, multiple types, 4
  • p.Thr55fs Single submitter congenital heart defects, multiple types, 4
  • p.Val286fs Single submitter congenital heart defects, multiple types, 4
  • p.Val299fs Single submitter Congenital heart disease (variable)
  • c.970+1G>A No assertion criteria congenital heart defects, multiple types, 4
  • p.Asn205Ile No assertion criteria congenital heart defects, multiple types, 4 ⚠
  • p.Gly83Ter No assertion criteria congenital heart defects, multiple types, 4

Pathogenic/Likely pathogenic 3

Likely pathogenic 16

  • p.Arg187fs Single submitter congenital heart defects, multiple types, 4
  • p.Asn229fs Single submitter congenital heart defects, multiple types, 4
  • p.Cys200fs Single submitter NR2F2-related disorder
  • p.Cys314Arg Single submitter Inborn genetic diseases
  • p.Glu147= Single submitter
  • p.Gly88Asp Single submitter NR2F2-Releated Disorders
  • p.Lys340fs Single submitter congenital heart defects, multiple types, 4
  • p.Lys389Ter Single submitter 46,xx sex reversal 5
  • p.Phe102Cys Single submitter congenital heart defects, multiple types, 4
  • p.Ser86Leu Single submitter NR2F2-related disorder
  • p.Val142fs Single submitter NR2F2-related disorder
  • p.Val29fs Single submitter congenital heart defects, multiple types, 4
  • p.Arg246His No assertion criteria 46 XY differences of sex development
  • p.Glu311Lys No assertion criteria
  • p.Glu379Ter No assertion criteria NR2F2 associated disorders
  • p.Trp8Ter No assertion criteria NR2F2 associated disorders

Conflicting classifications of pathogenicity 1

  • p.Ala412Ser Single submitter congenital heart defects, multiple types, 4 ⚠

Benign 11

Benign/Likely benign 1

  • p.Ser179= Multiple submitters congenital heart defects, multiple types, 4

Likely benign 56

  • p.Arg119= Multiple submitters congenital heart defects, multiple types, 4
  • p.Ser50= Multiple submitters congenital heart defects, multiple types, 4
  • c.443-16C>A Single submitter congenital heart defects, multiple types, 4
  • c.443-5C>T Single submitter congenital heart defects, multiple types, 4
  • c.970+18_970+19del Single submitter
  • c.970+9G>A Single submitter congenital heart defects, multiple types, 4
  • c.971-11C>T Single submitter congenital heart defects, multiple types, 4
  • c.-1048A>G Single submitter
  • c.-531TCC[10] Single submitter
  • p.Ala148= Single submitter congenital heart defects, multiple types, 4
  • p.Ala216= Single submitter congenital heart defects, multiple types, 4
  • p.Ala272= Single submitter congenital heart defects, multiple types, 4
  • p.Ala273= Single submitter congenital heart defects, multiple types, 4
  • p.Arg293= Single submitter congenital heart defects, multiple types, 4
  • p.Arg371= Single submitter congenital heart defects, multiple types, 4
  • p.Asn129= Single submitter
  • p.Asn204= Single submitter
  • p.Asn229= Single submitter congenital heart defects, multiple types, 4
  • p.Cys79= Single submitter congenital heart defects, multiple types, 4
  • p.Gln12= Single submitter congenital heart defects, multiple types, 4
  • p.Gln414= Single submitter congenital heart defects, multiple types, 4
  • p.Gly152= Single submitter congenital heart defects, multiple types, 4
  • p.Gly88= Single submitter congenital heart defects, multiple types, 4
  • p.Gly92= Single submitter congenital heart defects, multiple types, 4
  • p.His306= Single submitter congenital heart defects, multiple types, 4
  • p.Ile294= Single submitter congenital heart defects, multiple types, 4
  • p.Ile413= Single submitter
  • p.Leu111= Single submitter
  • p.Leu178= Single submitter
  • p.Leu247= Single submitter congenital heart defects, multiple types, 4
  • p.Leu320= Single submitter congenital heart defects, multiple types, 4
  • p.Leu395= Single submitter
  • p.Leu400= Single submitter
  • p.Lys138= Single submitter congenital heart defects, multiple types, 4
  • p.Lys70= Single submitter congenital heart defects, multiple types, 4
  • p.Phe321= Single submitter congenital heart defects, multiple types, 4
  • p.Pro122= Single submitter congenital heart defects, multiple types, 4
  • p.Pro155= Single submitter
  • p.Pro156= Single submitter congenital heart defects, multiple types, 4
  • p.Pro263= Single submitter congenital heart defects, multiple types, 4
  • p.Pro268= Single submitter congenital heart defects, multiple types, 4
  • p.Pro409= Single submitter
  • p.Pro43= Single submitter congenital heart defects, multiple types, 4
  • p.Pro66Ala Single submitter
  • p.Ser198= Single submitter
  • p.Ser281= Single submitter congenital heart defects, multiple types, 4
  • p.Ser336= Single submitter congenital heart defects, multiple types, 4
  • p.Ser402= Single submitter congenital heart defects, multiple types, 4
  • p.Ser68Gly Single submitter Inborn genetic diseases
  • p.Thr193= Single submitter congenital heart defects, multiple types, 4
  • p.Tyr348= Single submitter congenital heart defects, multiple types, 4
  • p.Val224= Single submitter congenital heart defects, multiple types, 4
  • p.Val29= Single submitter congenital heart defects, multiple types, 4
  • p.Arg195Cys No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
  • p.Gln163= No assertion criteria NR2F2-related disorder
  • p.Pro16= No assertion criteria NR2F2-related disorder

Uncertain significance 80