Sugi Variant

Sugi Variant/RFXAP

RFXAP — 144 ClinVar variants

All ClinVar germline RFXAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →

14 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 4 Conflicting · 7 Benign · 1 Benign/Likely benign · 35 Likely benign · 77 Uncertain significance

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

⚑ Evidence disagreements 55

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 37

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

Predictors split 17

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

All RFXAP variants

Pathogenic 14

  • p.Ser123fs Multiple submitters MHC class II deficiency 1
  • p.Asp94fs Single submitter MHC class II deficiency
  • p.Gln212Ter Single submitter
  • p.Glu121fs Single submitter MHC class II deficiency
  • p.Glu82Ter Single submitter MHC class II deficiency
  • p.Gly120fs Single submitter MHC class II deficiency
  • p.Gly63fs Single submitter MHC class II deficiency
  • p.Lys69fs Single submitter MHC class II deficiency
  • p.Gln156fs No assertion criteria MHC class II deficiency 4
  • p.Gln55Ter No assertion criteria MHC class II deficiency 4
  • p.Gly102fs No assertion criteria MHC class II deficiency 4
  • p.His117fs No assertion criteria MHC class II deficiency 4
  • p.Ser132fs No assertion criteria MHC class II deficiency 4
  • p.Tyr73Ter No assertion criteria MHC class II deficiency 4

Pathogenic/Likely pathogenic 1

  • p.Glu87fs Multiple submitters MHC class II deficiency

Likely pathogenic 5

  • c.601-2A>T Single submitter MHC class II deficiency
  • p.Asn232fs Single submitter MHC class II deficiency 4
  • p.Leu108Ter Single submitter MHC class II deficiency 4
  • p.Ser96Ter Single submitter MHC class II deficiency
  • p.Val18fs Single submitter MHC class II deficiency 4

Conflicting classifications of pathogenicity 4

Benign 7

  • c.*1092A>G Multiple submitters MHC class II deficiency
  • c.*1253G>A Multiple submitters MHC class II deficiency
  • c.*550T>C Multiple submitters MHC class II deficiency
  • c.*55A>G Multiple submitters MHC class II deficiency
  • c.*33del Single submitter MHC class II deficiency
  • c.*472C>T Single submitter MHC class II deficiency
  • c.*719C>T Single submitter MHC class II deficiency

Benign/Likely benign 1

  • p.Gln252= Multiple submitters MHC class II deficiency

Likely benign 35

  • p.Gln233= Multiple submitters MHC class II deficiency
  • p.Gln43= Multiple submitters MHC class II deficiency
  • p.Pro224= Multiple submitters MHC class II deficiency
  • p.Ser118= Multiple submitters MHC class II deficiency
  • p.Ser237= Multiple submitters MHC class II deficiency
  • c.601-14A>G Single submitter MHC class II deficiency
  • c.601-14dup Single submitter MHC class II deficiency
  • c.708+13_708+16del Single submitter MHC class II deficiency
  • c.708+13T>C Single submitter MHC class II deficiency
  • c.708+7_708+8del Single submitter MHC class II deficiency
  • c.709-16T>G Single submitter MHC class II deficiency
  • c.709-7T>G Single submitter MHC class II deficiency
  • c.*1194A>G Single submitter MHC class II deficiency
  • c.*479G>A Single submitter MHC class II deficiency
  • p.Ala3= Single submitter MHC class II deficiency
  • p.Ala60= Single submitter MHC class II deficiency
  • p.Cys75= Single submitter
  • p.Gln246= Single submitter MHC class II deficiency
  • p.Glu115= Single submitter MHC class II deficiency
  • p.Gly101= Single submitter MHC class II deficiency
  • p.Gly102= Single submitter MHC class II deficiency
  • p.Gly126= Single submitter MHC class II deficiency
  • p.Gly134= Single submitter MHC class II deficiency
  • p.Gly218= Single submitter MHC class II deficiency
  • p.Gly9= Single submitter MHC class II deficiency
  • p.Leu111= Single submitter MHC class II deficiency
  • p.Leu236= Single submitter MHC class II deficiency
  • p.Leu255= Single submitter MHC class II deficiency
  • p.Leu74= Single submitter MHC class II deficiency
  • p.Leu92= Single submitter MHC class II deficiency
  • p.Pro61= Single submitter MHC class II deficiency
  • p.Pro99= Single submitter MHC class II deficiency
  • p.Ser202= Single submitter MHC class II deficiency
  • p.Thr45= Single submitter MHC class II deficiency
  • p.Val244= Single submitter MHC class II deficiency

Uncertain significance 77