Sugi Variant

Sugi Variant/ABCB6

ABCB6 — 302 ClinVar variants

All ClinVar germline ABCB6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 198 flagged for review →

6 Pathogenic · 4 Likely pathogenic · 10 Conflicting · 21 Benign · 7 Benign/Likely benign · 52 Likely benign · 202 Uncertain significance

Full ABCB6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 198

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 98

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

Predictors split 97

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

All ABCB6 variants

Pathogenic 6

  • p.Arg375Gln No assertion criteria familial pseudohyperkalemia
  • p.Gln555Lys No assertion criteria dyschromatosis universalis hereditaria 3
  • p.Gly579Glu No assertion criteria dyschromatosis universalis hereditaria 3 ⚠
  • p.Leu356Pro No assertion criteria dyschromatosis universalis hereditaria 3
  • p.Leu811Val No assertion criteria microphthalmia, isolated, with coloboma 7
  • p.Ser170Gly No assertion criteria dyschromatosis universalis hereditaria 3 ⚠

Likely pathogenic 4

  • c.1452+2T>A Single submitter dyschromatosis universalis hereditaria 3
  • p.Arg375Trp Single submitter Langereis blood group
  • p.Arg450Trp No assertion criteria microphthalmia, isolated, with coloboma 7 ⚠
  • p.Tyr530fs No assertion criteria ABCB6-related disorder

Conflicting classifications of pathogenicity 10

Benign 21

Benign/Likely benign 7

Likely benign 52

Uncertain significance 202