Sugi Variant

Sugi Variant/DRD4

DRD4 — 210 ClinVar variants

All ClinVar germline DRD4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →

1 Likely pathogenic · 4 Conflicting · 9 Benign · 1 Benign/Likely benign · 33 Likely benign · 162 Uncertain significance

Full DRD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 146

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 117

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

Predictors split 28

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

All DRD4 variants

Likely pathogenic 1

  • p.Asn52fs Single submitter hereditary attention deficit-hyperactivity disorder

Conflicting classifications of pathogenicity 4

  • p.Ala311= Single submitter hereditary attention deficit-hyperactivity disorder
  • p.Gln287Pro Single submitter hereditary attention deficit-hyperactivity disorder ⚠
  • p.Gly272= Single submitter hereditary attention deficit-hyperactivity disorder
  • p.Leu269= Single submitter hereditary attention deficit-hyperactivity disorder

Benign 9

Benign/Likely benign 1

  • p.Ala79fs Multiple submitters DRD4-related disorder

Likely benign 33

Uncertain significance 162