Sugi Variant

Sugi Variant/USB1

USB1 — 471 ClinVar variants

All ClinVar germline USB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 251 flagged for review →

19 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 7 Conflicting · 19 Benign · 4 Benign/Likely benign · 152 Likely benign · 262 Uncertain significance

Full USB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 251

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 3

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

Predictors lean, ClinVar uncertain 113

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

Predictors split 135

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

All USB1 variants

Pathogenic 19

  • c.266-1G>A Multiple submitters poikiloderma with neutropenia
  • c.693+1G>T Single submitter poikiloderma with neutropenia
  • p.Arg144fs Single submitter
  • p.Asn163fs Single submitter poikiloderma with neutropenia
  • p.Gln139Ter Single submitter poikiloderma with neutropenia
  • p.Gln225Ter Single submitter poikiloderma with neutropenia
  • p.Gly59fs Single submitter poikiloderma with neutropenia
  • p.Gly69fs Single submitter
  • p.Thr167fs Single submitter poikiloderma with neutropenia
  • p.Thr65fs Single submitter
  • p.Tyr161fs Single submitter
  • p.Tyr89Ter Single submitter
  • c.504-2A>C No assertion criteria poikiloderma with neutropenia
  • c.683_693+1del No assertion criteria poikiloderma with neutropenia
  • p.Arg168Gly No assertion criteria poikiloderma with neutropenia
  • p.Gln181Ter No assertion criteria poikiloderma with neutropenia
  • p.His179fs No assertion criteria poikiloderma with neutropenia
  • p.Pro60fs No assertion criteria poikiloderma with neutropenia
  • p.Trp81Ter No assertion criteria poikiloderma with neutropenia

Pathogenic/Likely pathogenic 1

  • p.Met22fs Multiple submitters poikiloderma with neutropenia

Likely pathogenic 7

Conflicting classifications of pathogenicity 7

Benign 19

Benign/Likely benign 4

Likely benign 152

Uncertain significance 262