Sugi Variant

Sugi Variant/UPB1

UPB1 — 238 ClinVar variants

All ClinVar germline UPB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →

12 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 23 Conflicting · 3 Benign · 7 Benign/Likely benign · 64 Likely benign · 118 Uncertain significance

Full UPB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 103

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 7

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

Predictors lean, ClinVar uncertain 68

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

Predictors split 28

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

All UPB1 variants

Pathogenic 12

Pathogenic/Likely pathogenic 2

  • c.873+1G>A Multiple submitters beta-ureidopropionase deficiency
  • c.917-1G>A Multiple submitters beta-ureidopropionase deficiency

Likely pathogenic 9

Conflicting classifications of pathogenicity 23

  • c.105-2A>G Single submitter Inborn genetic diseases
  • c.1071+10C>T Single submitter beta-ureidopropionase deficiency
  • c.791+5C>G Single submitter
  • p.Ala120fs Single submitter beta-ureidopropionase deficiency
  • p.Ala120Ser Single submitter beta-ureidopropionase deficiency ⚠
  • p.Ala155Val Single submitter beta-ureidopropionase deficiency ⚠
  • p.Ala85Glu Single submitter beta-ureidopropionase deficiency ⚠
  • p.Arg326Gln Single submitter beta-ureidopropionase deficiency ⚠
  • p.Cys128= Single submitter beta-ureidopropionase deficiency
  • p.Gln118= Single submitter beta-ureidopropionase deficiency
  • p.Glu172Lys Single submitter beta-ureidopropionase deficiency ⚠
  • p.Gly301= Single submitter beta-ureidopropionase deficiency
  • p.Gly31Ser Single submitter beta-ureidopropionase deficiency ⚠
  • p.Gly75= Single submitter beta-ureidopropionase deficiency
  • p.Ile228= Single submitter beta-ureidopropionase deficiency
  • p.Leu13Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro18= Single submitter beta-ureidopropionase deficiency
  • p.Ser257Leu Single submitter ⚠
  • p.Ser264= Single submitter beta-ureidopropionase deficiency
  • p.Ser264Arg Single submitter beta-ureidopropionase deficiency ⚠
  • p.Thr129= Single submitter beta-ureidopropionase deficiency
  • p.Thr129Met Single submitter beta-ureidopropionase deficiency ⚠
  • p.Val104Ile Single submitter beta-ureidopropionase deficiency ⚠

Benign 3

  • c.-17A>T Multiple submitters beta-ureidopropionase deficiency
  • c.*690T>G Multiple submitters beta-ureidopropionase deficiency
  • p.Phe282= Multiple submitters beta-ureidopropionase deficiency

Benign/Likely benign 7

  • c.792-16T>C Multiple submitters
  • c.873+9C>T Multiple submitters beta-ureidopropionase deficiency
  • p.Arg326= Multiple submitters beta-ureidopropionase deficiency
  • p.Lys374= Multiple submitters beta-ureidopropionase deficiency
  • p.Tyr234= Multiple submitters beta-ureidopropionase deficiency
  • p.Tyr362= Multiple submitters beta-ureidopropionase deficiency
  • p.Val319= Multiple submitters beta-ureidopropionase deficiency

Likely benign 64

Uncertain significance 118