Sugi Variant

Sugi Variant/SOX18

SOX18 — 214 ClinVar variants

All ClinVar germline SOX18 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →

3 Pathogenic · 2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 7 Conflicting · 6 Benign · 1 Benign/Likely benign · 47 Likely benign · 145 Uncertain significance

Full SOX18 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 139

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 5

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

Predictors lean, ClinVar uncertain 117

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

Predictors split 17

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

All SOX18 variants

Pathogenic 3

  • p.Glu238Ter Single submitter hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
  • p.Ala104Pro No assertion criteria hypotrichosis-lymphedema-telangiectasia syndrome
  • p.Trp95Arg No assertion criteria hypotrichosis-lymphedema-telangiectasia syndrome

Pathogenic/Likely pathogenic 2

  • p.Gln161Ter Multiple submitters hypotrichosis-lymphedema-telangiectasia syndrome
  • p.Glu169fs Multiple submitters

Likely pathogenic 3

  • p.Ala162fs Single submitter
  • p.Cys240Ter Single submitter hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
  • p.Leu306fs Single submitter hypotrichosis-lymphedema-telangiectasia syndrome

Conflicting classifications of pathogenicity 7

  • c.359-14C>G Single submitter hypotrichosis-lymphedema-telangiectasia syndrome
  • p.Arg256Trp Single submitter bladder exstrophy-epispadias-cloacal exstrophy complex ⚠
  • p.Asp31Glu Single submitter Inborn genetic diseases ⚠
  • p.Glu169Ter Single submitter hypotrichosis-lymphedema-telangiectasia syndrome
  • p.Glu185Gln Single submitter hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ⚠
  • p.Gly285Arg Single submitter hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ⚠
  • p.Pro304Gln Single submitter hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ⚠

Benign 6

Benign/Likely benign 1

  • p.Asp81= Multiple submitters hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Likely benign 47

Uncertain significance 145