Sugi Variant

Sugi Variant/TAP2

TAP2 — 427 ClinVar variants

All ClinVar germline TAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 178 flagged for review →

16 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 8 Conflicting · 20 Benign · 21 Benign/Likely benign · 161 Likely benign · 197 Uncertain significance

Full TAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 178

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 6

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

Predictors lean, ClinVar uncertain 121

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

Predictors split 51

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

All TAP2 variants

Pathogenic 16

  • p.Arg623Ter Single submitter MHC class I deficiency
  • p.Gln125fs Single submitter MHC class I deficiency
  • p.Gln536Ter Single submitter MHC class I deficiency
  • p.Gln613Ter Single submitter MHC class I deficiency
  • p.Glu320fs Single submitter MHC class I deficiency
  • p.Gly60Ter Single submitter MHC class I deficiency
  • p.Leu272fs Single submitter MHC class I deficiency
  • p.Leu275fs Single submitter MHC class I deficiency
  • p.Leu75fs Single submitter MHC class I deficiency
  • p.Ser421fs Single submitter MHC class I deficiency
  • p.Thr76fs Single submitter MHC class I deficiency
  • p.Trp21Ter Single submitter MHC class I deficiency
  • p.Trp367Ter Single submitter MHC class I deficiency
  • p.Trp39fs Single submitter MHC class I deficiency
  • p.Arg273Ter No assertion criteria MHC class I deficiency 2
  • p.Arg327fs No assertion criteria MHC class I deficiency

Pathogenic/Likely pathogenic 1

  • c.1636-1G>A Multiple submitters MHC class I deficiency

Likely pathogenic 3

  • c.1272+1G>A Single submitter MHC class I deficiency
  • c.1635+1G>C Single submitter MHC class I deficiency
  • p.Thr73fs Single submitter MHC class I deficiency

Conflicting classifications of pathogenicity 8

Benign 20

Benign/Likely benign 21

  • c.1144-5T>C Multiple submitters MHC class I deficiency
  • c.1144-6T>A Multiple submitters MHC class I deficiency
  • c.1273-15A>G Multiple submitters MHC class I deficiency
  • c.1635+18A>G Multiple submitters MHC class I deficiency
  • c.1932+10G>A Multiple submitters MHC class I deficiency
  • c.1932+9C>T Multiple submitters MHC class I deficiency
  • c.1933-5dup Multiple submitters
  • p.Ala374Thr Multiple submitters MHC class I deficiency
  • p.Ala565Thr Multiple submitters MHC class I deficiency
  • p.Ala609Val Multiple submitters MHC class I deficiency
  • p.Arg2Trp Multiple submitters MHC class I deficiency
  • p.Arg313His Multiple submitters MHC class I deficiency
  • p.Arg626= Multiple submitters MHC class I deficiency
  • p.Arg651Cys Multiple submitters MHC class I deficiency
  • p.Gln640= Multiple submitters MHC class I deficiency
  • p.Pro74= Multiple submitters MHC class I deficiency
  • p.Ser112= Multiple submitters MHC class I deficiency
  • p.Ter687Gln Multiple submitters MHC class I deficiency
  • p.Thr665Ala Multiple submitters MHC class I deficiency
  • p.Val15Ala Multiple submitters MHC class I deficiency
  • p.Val379Ile Multiple submitters MHC class I deficiency

Likely benign 161

Uncertain significance 197