Sugi Variant

Sugi Variant/ABCB7

ABCB7 — 301 ClinVar variants

All ClinVar germline ABCB7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 127 flagged for review →

4 Pathogenic · 5 Likely pathogenic · 11 Conflicting · 51 Benign · 12 Benign/Likely benign · 94 Likely benign · 124 Uncertain significance

Full ABCB7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 127

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 66

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

Predictors split 58

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

All ABCB7 variants

Pathogenic 4

  • p.Ile400Met Single submitter X-linked sideroblastic anemia with ataxia ⚠
  • p.Glu208Asp No assertion criteria X-linked sideroblastic anemia with ataxia
  • p.Glu433Lys No assertion criteria X-linked sideroblastic anemia with ataxia
  • p.Val411Leu No assertion criteria X-linked sideroblastic anemia with ataxia

Likely pathogenic 5

Conflicting classifications of pathogenicity 11

Benign 51

Benign/Likely benign 12

Likely benign 94

Uncertain significance 124