Sugi Variant

Sugi Variant/ATP6V1B2

ATP6V1B2 — 181 ClinVar variants

All ClinVar germline ATP6V1B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →

7 Pathogenic · 3 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 5 Conflicting · 19 Benign · 6 Benign/Likely benign · 20 Likely benign · 113 Uncertain significance

Full ATP6V1B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 109

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 4

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

Predictors lean, ClinVar uncertain 70

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

Predictors split 35

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

All ATP6V1B2 variants

Pathogenic 7

  • p.Arg506Ter Multiple submitters autosomal dominant deafness - onychodystrophy syndrome
  • p.Glu374Gly Single submitter Zimmermann-Laband syndrome 2
  • p.Lys489Ter Single submitter Zimmermann-Laband syndrome with epileptic encephalopathy
  • p.Trp481Ter Single submitter Zimmermann-Laband syndrome 2
  • p.Tyr328Cys Single submitter
  • p.Arg485Pro No assertion criteria Zimmermann-Laband syndrome 1
  • p.Leu398Val No assertion criteria Zimmermann-Laband syndrome 2

Pathogenic/Likely pathogenic 3

  • p.Ala210Pro Multiple submitters Inborn genetic diseases
  • p.Arg506Gln Multiple submitters autosomal dominant deafness - onychodystrophy syndrome ⚠
  • p.Met327Ile Multiple submitters autosomal dominant deafness - onychodystrophy syndrome

Likely pathogenic 8

Conflicting classifications of pathogenicity 5

  • p.Ala13Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg506Gly Single submitter autosomal dominant deafness - onychodystrophy syndrome ⚠
  • p.Asp380Glu Single submitter Inborn genetic diseases ⚠
  • p.Glu441Ala Single submitter autosomal dominant deafness - onychodystrophy syndrome ⚠
  • p.Pro15Ser Single submitter Inborn genetic diseases ⚠

Benign 19

Benign/Likely benign 6

Likely benign 20

Uncertain significance 113