Sugi Variant

Sugi Variant/GRIN2D

GRIN2D — 1381 ClinVar variants

All ClinVar germline GRIN2D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 727 flagged for review →

3 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 49 Conflicting · 17 Benign · 13 Benign/Likely benign · 493 Likely benign · 796 Uncertain significance

Full GRIN2D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 727

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 39

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

Predictors lean, ClinVar uncertain 540

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 540

Predictors split 148

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

All GRIN2D variants

Pathogenic 3

  • p.Ala675Asp Single submitter
  • p.Ser573Phe Single submitter developmental and epileptic encephalopathy, 46
  • p.Met681Ile No assertion criteria developmental and epileptic encephalopathy, 46

Pathogenic/Likely pathogenic 2

  • p.Met681Val Multiple submitters developmental and epileptic encephalopathy, 46
  • p.Val667Ile Multiple submitters developmental and epileptic encephalopathy, 46

Likely pathogenic 8

  • p.Ala678Asp Single submitter developmental and epileptic encephalopathy, 46
  • p.Asn844His Single submitter developmental and epileptic encephalopathy, 46 ⚠
  • p.Asp449Asn Single submitter developmental and epileptic encephalopathy, 46
  • p.Leu677Val Single submitter developmental and epileptic encephalopathy, 46
  • p.Met589del Single submitter
  • p.Ser694Arg Single submitter ⚠
  • p.Ser837Arg Single submitter
  • p.Thr777Ile Single submitter developmental and epileptic encephalopathy, 46

Conflicting classifications of pathogenicity 49

Benign 17

Benign/Likely benign 13

Likely benign 493

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

Uncertain significance 796

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