Sugi Variant

Sugi Variant/DOCK6

DOCK6 — 1671 ClinVar variants

All ClinVar germline DOCK6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 698 flagged for review →

49 Pathogenic · 9 Pathogenic/Likely pathogenic · 40 Likely pathogenic · 31 Conflicting · 106 Benign · 41 Benign/Likely benign · 683 Likely benign · 712 Uncertain significance

Full DOCK6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 698

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 13

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

Predictors lean, ClinVar uncertain 378

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 378

Predictors split 307

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 307

All DOCK6 variants

Pathogenic 49

Pathogenic/Likely pathogenic 9

  • p.Arg1338Ter Multiple submitters Adams-Oliver syndrome 2
  • p.Arg1526Ter Multiple submitters Adams-Oliver syndrome
  • p.Arg184Ter Multiple submitters Adams-Oliver syndrome 2
  • p.Cys1061fs Multiple submitters Adams-Oliver syndrome 2
  • p.Gln1188Ter Multiple submitters Adams-Oliver syndrome 1
  • p.Leu207fs Multiple submitters Adams-Oliver syndrome 2
  • p.Thr455fs Multiple submitters Inborn genetic diseases
  • p.Tyr129Ter Multiple submitters Adams-Oliver syndrome 2
  • p.Tyr235Ter Multiple submitters Adams-Oliver syndrome 2

Likely pathogenic 40

Conflicting classifications of pathogenicity 31

Benign 106

Benign/Likely benign 41

Likely benign 683

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

Uncertain significance 712

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