Sugi Variant

Sugi Variant/RELN

RELN — 4016 ClinVar variants

All ClinVar germline RELN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1160 flagged for review →

68 Pathogenic · 3 Pathogenic/Likely pathogenic · 42 Likely pathogenic · 319 Conflicting · 255 Benign · 73 Benign/Likely benign · 1429 Likely benign · 1827 Uncertain significance

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

⚑ Evidence disagreements 1160

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 147

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 847

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 847

Predictors split 162

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 162

All RELN variants

Pathogenic 68

Pathogenic/Likely pathogenic 3

  • p.Arg1622Ter Multiple submitters Norman-Roberts syndrome
  • p.Phe3062fs Multiple submitters Norman-Roberts syndrome
  • p.Ser696fs Multiple submitters familial temporal lobe epilepsy 7

Likely pathogenic 42

Conflicting classifications of pathogenicity 319

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

Benign 255

Benign/Likely benign 73

Likely benign 1429

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

Uncertain significance 1827

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