Sugi Variant

Sugi Variant/SEMA6B

SEMA6B — 354 ClinVar variants

All ClinVar germline SEMA6B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 209 flagged for review →

10 Pathogenic · 3 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 4 Conflicting · 12 Benign · 3 Benign/Likely benign · 92 Likely benign · 217 Uncertain significance

Full SEMA6B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 209

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 1

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

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 154

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 154

Predictors split 53

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

All SEMA6B variants

Pathogenic 10

Pathogenic/Likely pathogenic 3

  • p.Gln660Ter Multiple submitters
  • p.Gly664fs Multiple submitters epilepsy, progressive myoclonic, 11
  • p.Val675fs Multiple submitters epilepsy, progressive myoclonic, 11

Likely pathogenic 13

  • p.Ala512fs Multiple submitters epilepsy, progressive myoclonic, 11
  • p.Thr713Met Multiple submitters epilepsy with myoclonic atonic seizures ⚠
  • c.1680-2A>G Single submitter epilepsy, progressive myoclonic, 11
  • c.1739-2A>G Single submitter epilepsy, progressive myoclonic, 11
  • p.Gln696Ter Single submitter epilepsy, progressive myoclonic, 11
  • p.Gln717Ter Single submitter epilepsy, progressive myoclonic, 11
  • p.Gly490fs Single submitter epilepsy, progressive myoclonic, 11
  • p.Gly663fs Single submitter epilepsy, progressive myoclonic, 11
  • p.Pro677fs Single submitter
  • p.Thr709Ala Single submitter ⚠
  • p.Val183Leu Single submitter ⚠
  • p.Val651fs Single submitter epilepsy, progressive myoclonic, 11
  • p.Leu161Val No assertion criteria intellectual disability ⚠

Conflicting classifications of pathogenicity 4

Benign 12

Benign/Likely benign 3

  • p.Arg781Leu Multiple submitters Inborn genetic diseases
  • p.Glu656Gly Multiple submitters Inborn genetic diseases
  • p.Met685Val Multiple submitters Inborn genetic diseases

Likely benign 92

Uncertain significance 217