Sugi Variant

Sugi Variant/ZFX

ZFX — 97 ClinVar variants

All ClinVar germline ZFX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →

7 Pathogenic · 4 Likely pathogenic · 2 Benign · 5 Likely benign · 79 Uncertain significance

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

⚑ Evidence disagreements 70

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 54

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

Predictors split 15

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

All ZFX variants

Pathogenic 7

  • p.Tyr774Cys Multiple submitters intellectual developmental disorder, X-linked, syndromic 37
  • p.Met666fs Single submitter intellectual developmental disorder, X-linked, syndromic 37
  • p.Ser588fs Single submitter intellectual developmental disorder, X-linked, syndromic 37
  • p.Thr771Met Single submitter intellectual developmental disorder, X-linked, syndromic 37 ⚠
  • p.Arg786Gln No assertion criteria intellectual developmental disorder, X-linked, syndromic 37 ⚠
  • p.Leu440fs No assertion criteria intellectual developmental disorder, X-linked, syndromic 37
  • p.Val39fs No assertion criteria intellectual developmental disorder, X-linked, syndromic 37

Likely pathogenic 4

Benign 2

Likely benign 5

Uncertain significance 79