Sugi Variant

Sugi Variant/ADGRG6

ADGRG6 — 242 ClinVar variants

All ClinVar germline ADGRG6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 154 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 2 Conflicting · 39 Benign · 2 Benign/Likely benign · 32 Likely benign · 158 Uncertain significance

Full ADGRG6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 154

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 84

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

Predictors split 69

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

All ADGRG6 variants

Pathogenic 4

  • p.Ala247fs Single submitter
  • p.Arg7Ter Single submitter arthrogryposis multiplex congenita
  • p.Gln716fs Single submitter arthrogryposis multiplex congenita
  • p.Leu740Ter Single submitter lethal congenital contracture syndrome 9

Pathogenic/Likely pathogenic 1

  • p.Val769Glu Multiple submitters lethal congenital contracture syndrome 9

Likely pathogenic 4

  • c.1424+2T>A Single submitter lethal congenital contracture syndrome 9
  • p.Arg311Ter Single submitter lethal congenital contracture syndrome 9
  • p.Ser170fs Single submitter lethal congenital contracture syndrome 9
  • p.Ser225fs Single submitter lethal congenital contracture syndrome 9

Conflicting classifications of pathogenicity 2

Benign 39

Benign/Likely benign 2

Likely benign 32

Uncertain significance 158