Sugi Variant

Sugi Variant/XPC

XPC — 1041 ClinVar variants

All ClinVar germline XPC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 172 flagged for review →

104 Pathogenic · 24 Pathogenic/Likely pathogenic · 75 Likely pathogenic · 34 Conflicting · 40 Benign · 29 Benign/Likely benign · 535 Likely benign · 200 Uncertain significance

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

⚑ Evidence disagreements 172

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 11

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

Predictors lean, ClinVar uncertain 131

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

Predictors split 30

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

All XPC variants

Pathogenic 104

Pathogenic/Likely pathogenic 24

  • c.1872+1G>C Multiple submitters xeroderma pigmentosum group C
  • c.2033+1G>A Multiple submitters xeroderma pigmentosum
  • c.2420+2T>C Multiple submitters xeroderma pigmentosum group C
  • c.413-24A>G Multiple submitters xeroderma pigmentosum group C
  • c.779+1G>A Multiple submitters XPC-related disorder
  • c.779+1G>T Multiple submitters XPC-related disorder
  • c.990+1G>A Multiple submitters xeroderma pigmentosum group C
  • p.Ala231fs Multiple submitters xeroderma pigmentosum group C
  • p.Ala674fs Multiple submitters xeroderma pigmentosum group C
  • p.Arg423fs Multiple submitters xeroderma pigmentosum group C
  • p.Asn778fs Multiple submitters xeroderma pigmentosum group C
  • p.Asp121fs Multiple submitters xeroderma pigmentosum group C
  • p.Cys670Ter Multiple submitters XPC-related disorder
  • p.Gln172Ter Multiple submitters xeroderma pigmentosum group C
  • p.Gln474Ter Multiple submitters xeroderma pigmentosum group C
  • p.Glu739fs Multiple submitters xeroderma pigmentosum group C
  • p.Glu740Ter Multiple submitters xeroderma pigmentosum group C
  • p.Glu755Ter Multiple submitters xeroderma pigmentosum group C
  • p.Leu684fs Multiple submitters xeroderma pigmentosum group C
  • p.Pro633fs Multiple submitters xeroderma pigmentosum group C
  • p.Ser436fs Multiple submitters xeroderma pigmentosum group C
  • p.Ser765fs Multiple submitters xeroderma pigmentosum group C
  • p.Thr683fs Multiple submitters xeroderma pigmentosum group C
  • p.Trp848Ter Multiple submitters xeroderma pigmentosum group C

Likely pathogenic 75

Conflicting classifications of pathogenicity 34

Benign 40

Benign/Likely benign 29

  • c.2115+17G>T Multiple submitters
  • c.2115+18dup Multiple submitters xeroderma pigmentosum group C
  • c.2251-6A>C Multiple submitters xeroderma pigmentosum group A
  • c.2420+12del Multiple submitters
  • c.2605-16A>C Multiple submitters
  • c.780-15C>T Multiple submitters xeroderma pigmentosum group A
  • c.*611T>A Multiple submitters xeroderma pigmentosum group C
  • c.*618A>G Multiple submitters xeroderma pigmentosum group C
  • c.*684G>C Multiple submitters xeroderma pigmentosum group C
  • c.*96C>G Multiple submitters xeroderma pigmentosum group C
  • p.Ala499= Multiple submitters xeroderma pigmentosum group C
  • p.Ala499Val Multiple submitters xeroderma pigmentosum group A
  • p.Arg492His Multiple submitters xeroderma pigmentosum group A
  • p.Arg687= Multiple submitters xeroderma pigmentosum group A
  • p.Asp454= Multiple submitters xeroderma pigmentosum group C
  • p.Gln939Lys Multiple submitters xeroderma pigmentosum group C
  • p.Leu48Phe Multiple submitters xeroderma pigmentosum group A
  • p.Lys481Asn Multiple submitters xeroderma pigmentosum group C
  • p.Lys928Gln Multiple submitters xeroderma pigmentosum
  • p.Phe287Cys Multiple submitters xeroderma pigmentosum group C ⚠
  • p.Phe614Ser Multiple submitters xeroderma pigmentosum group C
  • p.Pro334His Multiple submitters xeroderma pigmentosum
  • p.Pro334Ser Multiple submitters xeroderma pigmentosum
  • p.Pro744= Multiple submitters xeroderma pigmentosum
  • p.Pro777= Multiple submitters
  • p.Ser49= Multiple submitters xeroderma pigmentosum group C
  • p.Thr313= Multiple submitters
  • p.Thr689Met Multiple submitters xeroderma pigmentosum ⚠
  • p.Tyr865= Multiple submitters

Likely benign 535

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

Uncertain significance 200