Sugi Variant

Sugi Variant/DLX5

DLX5 — 86 ClinVar variants

All ClinVar germline DLX5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →

3 Pathogenic · 5 Likely pathogenic · 1 Conflicting · 7 Benign · 1 Benign/Likely benign · 17 Likely benign · 52 Uncertain significance

Full DLX5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 46

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 25

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

Predictors split 20

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

All DLX5 variants

Pathogenic 3

  • p.Ser146fs Single submitter
  • p.Gln178Pro No assertion criteria split hand-foot malformation 1 with sensorineural hearing loss
  • p.Glu39Ter No assertion criteria split hand-foot malformation 1

Likely pathogenic 5

  • p.Ala171Val Single submitter split hand-foot malformation 1 with sensorineural hearing loss
  • p.Glu126Ter Single submitter DLX5-related disorder
  • p.Leu170Pro Single submitter split hand-foot malformation 1
  • p.Tyr161His Single submitter split hand-foot malformation 1 with sensorineural hearing loss
  • c.541-1G>A No assertion criteria DLX5-related disorder

Conflicting classifications of pathogenicity 1

Benign 7

Benign/Likely benign 1

Likely benign 17

Uncertain significance 52