Sugi Variant

Sugi Variant/HS2ST1

HS2ST1 — 61 ClinVar variants

All ClinVar germline HS2ST1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →

5 Pathogenic · 1 Likely pathogenic · 2 Benign · 11 Likely benign · 42 Uncertain significance

Full HS2ST1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 43

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 lean, ClinVar uncertain 32

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

Predictors split 11

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

All HS2ST1 variants

Pathogenic 5

  • p.Arg189Ser No assertion criteria neurofacioskeletal syndrome with or without renal agenesis
  • p.Asp165Tyr No assertion criteria neurofacioskeletal syndrome with or without renal agenesis
  • p.Phe176Ser No assertion criteria NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS
  • p.Phe20_Ala21delinsTer No assertion criteria neurofacioskeletal syndrome with or without renal agenesis
  • p.Pro114_Val115insTer No assertion criteria NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS

Likely pathogenic 1

  • p.Gln32_Lys33del Single submitter neurofacioskeletal syndrome with or without renal agenesis

Benign 2

  • c.364-8C>T Multiple submitters neurofacioskeletal syndrome with or without renal agenesis
  • c.364-19A>G Single submitter neurofacioskeletal syndrome with or without renal agenesis

Likely benign 11

Uncertain significance 42