Sugi Variant

Sugi Variant/IL6ST

IL6ST — 647 ClinVar variants

All ClinVar germline IL6ST variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 337 flagged for review →

16 Pathogenic · 8 Likely pathogenic · 8 Conflicting · 11 Benign · 11 Benign/Likely benign · 212 Likely benign · 381 Uncertain significance

Full IL6ST gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 337

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 6

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

Predictors lean, ClinVar uncertain 278

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 278

Predictors split 53

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

All IL6ST variants

Pathogenic 16

  • p.Arg281Ter Multiple submitters Stuve-Wiedemann syndrome 2
  • p.Ser731fs Multiple submitters
  • p.Cys733Ter Single submitter
  • p.Ile719fs Single submitter hyper-IgE recurrent infection syndrome 4A, autosomal dominant
  • p.Lys529_Val530insTer Single submitter
  • p.Phe608fs Single submitter
  • p.Phe613fs Single submitter
  • p.Ser375Ter Single submitter Stuve-Wiedemann syndrome 2
  • p.Tyr334Ter Single submitter
  • p.Val496fs Single submitter
  • c.1699+4A>G No assertion criteria Stuve-Wiedemann syndrome 2
  • p.Asn404Tyr No assertion criteria hyper-IgE recurrent infection syndrome 4, autosomal recessive
  • p.Pro498Leu No assertion criteria hyper-IgE recurrent infection syndrome 4, autosomal recessive
  • p.Ser187_Tyr190del No assertion criteria immunodeficiency 94 with autoinflammation and dysmorphic facies
  • p.Thr761fs No assertion criteria hyper-IgE recurrent infection syndrome 4A, autosomal dominant
  • p.Tyr759Ter No assertion criteria hyper-IgE recurrent infection syndrome 4A, autosomal dominant

Likely pathogenic 8

Conflicting classifications of pathogenicity 8

Benign 11

Benign/Likely benign 11

Likely benign 212

Uncertain significance 381

Showing the top 300 by review status; the full set is in the sitemap.