Sugi Variant

Sugi Variant/EOGT

EOGT — 271 ClinVar variants

All ClinVar germline EOGT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →

8 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 3 Conflicting · 49 Benign · 5 Benign/Likely benign · 98 Likely benign · 102 Uncertain significance

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

⚑ Evidence disagreements 96

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 2

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

Predictors lean, ClinVar uncertain 59

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 EOGT variants

Pathogenic 8

  • p.His27fs Multiple submitters Adams-Oliver syndrome 4
  • c.1335-1G>A Single submitter Adams-Oliver syndrome 4
  • c.311+1G>T Single submitter Adams-Oliver syndrome 4
  • p.Cys135Tyr Single submitter Adams-Oliver syndrome 4
  • p.Gln412Ter Single submitter Adams-Oliver syndrome 4
  • p.Leu66fs Single submitter Adams-Oliver syndrome 4
  • p.Arg377Gln No assertion criteria Adams-Oliver syndrome 4
  • p.Trp207Ser No assertion criteria Adams-Oliver syndrome 4

Pathogenic/Likely pathogenic 2

  • c.621-2A>T Multiple submitters Adams-Oliver syndrome 4
  • p.Gly359fs Multiple submitters Adams-Oliver syndrome 4

Likely pathogenic 4

Conflicting classifications of pathogenicity 3

Benign 49

Benign/Likely benign 5

  • c.620+17G>A Multiple submitters Adams-Oliver syndrome 4
  • p.Asp269= Multiple submitters Adams-Oliver syndrome 4
  • p.His261= Multiple submitters Adams-Oliver syndrome 4
  • p.Lys390= Multiple submitters Adams-Oliver syndrome 4
  • p.Pro24Arg Multiple submitters Adams-Oliver syndrome 4

Likely benign 98

Uncertain significance 102