Sugi Variant

Sugi Variant/ST14

ST14 — 284 ClinVar variants

All ClinVar germline ST14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →

8 Pathogenic · 7 Likely pathogenic · 3 Conflicting · 56 Benign · 11 Benign/Likely benign · 74 Likely benign · 125 Uncertain significance

Full ST14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 125

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 3

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

Predictors lean, ClinVar uncertain 97

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

Predictors split 25

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

All ST14 variants

Pathogenic 8

  • c.598+1G>A Single submitter autosomal recessive congenital ichthyosis 11
  • p.Cys523Ter Single submitter
  • p.Gln210fs Single submitter
  • p.Thr350fs Single submitter
  • p.Trp156Ter Single submitter
  • p.Gly827Arg No assertion criteria autosomal recessive congenital ichthyosis 11
  • p.Leu678fs No assertion criteria autosomal recessive congenital ichthyosis 11
  • p.Met1Ile No assertion criteria autosomal recessive congenital ichthyosis 11

Likely pathogenic 7

Conflicting classifications of pathogenicity 3

Benign 56

Benign/Likely benign 11

Likely benign 74

Uncertain significance 125