Sugi Variant

Sugi Variant/GRM6

GRM6 — 952 ClinVar variants

All ClinVar germline GRM6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 465 flagged for review →

38 Pathogenic · 9 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 37 Conflicting · 46 Benign · 31 Benign/Likely benign · 299 Likely benign · 472 Uncertain significance

Full GRM6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 465

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 23

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

Predictors lean, ClinVar uncertain 334

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 334

Predictors split 108

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

All GRM6 variants

Pathogenic 38

Pathogenic/Likely pathogenic 9

  • c.727dup Multiple submitters GRM6-related disorders
  • p.Arg55_Ala56insTer Multiple submitters GRM6-related disorders
  • p.Gln59fs Multiple submitters GRM6-related disorders
  • p.Gln681Ter Multiple submitters congenital stationary night blindness
  • p.Glu622Ter Multiple submitters GRM6-related disorders
  • p.Gly756Asp Multiple submitters inherited retinal dystrophy
  • p.Met1Ile Multiple submitters GRM6-related disorders
  • p.Pro689fs Multiple submitters congenital stationary night blindness 1B
  • p.Tyr395Ter Multiple submitters GRM6-related disorders

Likely pathogenic 20

Conflicting classifications of pathogenicity 37

Benign 46

Benign/Likely benign 31

Likely benign 299

Uncertain significance 472

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