Sugi Variant

Sugi Variant/ADARB1

ADARB1 — 101 ClinVar variants

All ClinVar germline ADARB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →

6 Pathogenic · 1 Conflicting · 6 Benign · 1 Benign/Likely benign · 15 Likely benign · 72 Uncertain significance

Full ADARB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 70

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 1

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 36

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

Predictors split 32

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

All ADARB1 variants

Pathogenic 6

  • c.1245_1247+1del No assertion criteria neurodevelopmental disorder with hypotonia, microcephaly, and seizures
  • p.Ala682Val No assertion criteria neurodevelopmental disorder with hypotonia, microcephaly, and seizures ⚠
  • p.Arg563Gln No assertion criteria neurodevelopmental disorder with hypotonia, microcephaly, and seizures
  • p.Arg590Gln No assertion criteria neurodevelopmental disorder with hypotonia, microcephaly, and seizures
  • p.Lys127Glu No assertion criteria neurodevelopmental disorder with hypotonia, microcephaly, and seizures
  • p.Ser498Gly No assertion criteria neurodevelopmental disorder with hypotonia, microcephaly, and seizures ⚠

Conflicting classifications of pathogenicity 1

Benign 6

Benign/Likely benign 1

Likely benign 15

Uncertain significance 72