Sugi Variant

Sugi Variant/DUSP6

DUSP6 — 88 ClinVar variants

All ClinVar germline DUSP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

1 Pathogenic · 2 Conflicting · 15 Benign · 21 Likely benign · 49 Uncertain significance

Full DUSP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 50

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 1

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

Predictors lean, ClinVar uncertain 30

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

Predictors split 19

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

All DUSP6 variants

Pathogenic 1

  • p.Cys39Ter Single submitter hypogonadotropic hypogonadism 19 with or without anosmia

Conflicting classifications of pathogenicity 2

  • p.Asn189Ser Single submitter hypogonadotropic hypogonadism 19 with or without anosmia ⚠
  • p.Ser182Phe Single submitter hypogonadotropic hypogonadism 19 with or without anosmia ⚠

Benign 15

Likely benign 21

Uncertain significance 49