Sugi Variant

Sugi Variant/ANKLE2

ANKLE2 — 350 ClinVar variants

All ClinVar germline ANKLE2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 178 flagged for review →

3 Pathogenic · 6 Likely pathogenic · 9 Conflicting · 70 Benign · 7 Benign/Likely benign · 84 Likely benign · 171 Uncertain significance

Full ANKLE2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 178

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 4

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

Predictors lean, ClinVar uncertain 107

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

Predictors split 66

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

All ANKLE2 variants

Pathogenic 3

Likely pathogenic 6

  • c.1701-2A>G Single submitter
  • p.Ala503fs Single submitter microcephaly 16, primary, autosomal recessive
  • p.Arg314Gln Single submitter Inborn genetic diseases
  • p.Gly201Trp Single submitter microcephaly 16, primary, autosomal recessive
  • p.Leu573Val Single submitter microcephaly ⚠
  • p.Ser832Ter Single submitter microcephaly 16, primary, autosomal recessive

Conflicting classifications of pathogenicity 9

Benign 70

Benign/Likely benign 7

Likely benign 84

Uncertain significance 171