SEMA3B — 212 ClinVar variants

All ClinVar germline SEMA3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

1 Conflicting · 4 Benign · 67 Likely benign · 140 Uncertain significance

Full SEMA3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 118

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 89

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

Predictors split 28

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

All SEMA3B variants

Conflicting classifications of pathogenicity 1

Benign 4

  • p.Pro375= Multiple submitters
  • p.Arg30fs Single submitter SEMA3B-related disorder
  • p.Leu154= Single submitter SEMA3B-related disorder
  • p.Thr415Ile No assertion criteria SEMA3B-related disorder

Likely benign 67

  • p.Ala680Val Multiple submitters SEMA3B-related disorder
  • p.Arg175= Single submitter SEMA3B-related disorder
  • p.Gly182= Single submitter SEMA3B-related disorder
  • p.Leu257= Single submitter SEMA3B-related disorder
  • p.Pro255= Single submitter SEMA3B-related disorder
  • p.Thr625Asn Single submitter SEMA3B-related disorder
  • p.Val9Met Single submitter
  • c.1450-7C>G No assertion criteria SEMA3B-related disorder
  • c.1491+7G>A No assertion criteria SEMA3B-related disorder
  • c.1491+7G>C No assertion criteria SEMA3B-related disorder
  • c.268-5G>A No assertion criteria SEMA3B-related disorder
  • c.450+3A>G No assertion criteria SEMA3B-related disorder
  • c.450+9G>A No assertion criteria SEMA3B-related disorder
  • c.810+6G>T No assertion criteria SEMA3B-related disorder
  • c.992+9C>G No assertion criteria SEMA3B-related disorder
  • c.993-8G>C No assertion criteria SEMA3B-related disorder
  • c.*8_*9del No assertion criteria SEMA3B-related disorder
  • p.Ala24= No assertion criteria SEMA3B-related disorder
  • p.Ala350= No assertion criteria SEMA3B-related disorder
  • p.Ala4= No assertion criteria SEMA3B-related disorder
  • p.Ala434Val No assertion criteria SEMA3B-related disorder
  • p.Ala435= No assertion criteria SEMA3B-related disorder
  • p.Ala7= No assertion criteria SEMA3B-related disorder
  • p.Arg173= No assertion criteria SEMA3B-related disorder
  • p.Arg30= No assertion criteria SEMA3B-related disorder
  • p.Arg30Cys No assertion criteria SEMA3B-related disorder ⚠
  • p.Arg319Trp No assertion criteria SEMA3B-related disorder ⚠
  • p.Arg349Gln No assertion criteria SEMA3B-related disorder
  • p.Arg497= No assertion criteria SEMA3B-related disorder
  • p.Arg505Gln No assertion criteria SEMA3B-related disorder
  • p.Arg627= No assertion criteria SEMA3B-related disorder
  • p.Arg86= No assertion criteria SEMA3B-related disorder
  • p.Asn271= No assertion criteria SEMA3B-related disorder
  • p.Asn82= No assertion criteria SEMA3B-related disorder
  • p.Asp531= No assertion criteria SEMA3B-related disorder
  • p.Asp537= No assertion criteria SEMA3B-related disorder
  • p.Glu623Asp No assertion criteria SEMA3B-related disorder
  • p.Glu72Lys No assertion criteria SEMA3B-related disorder
  • p.Gly12= No assertion criteria SEMA3B-related disorder
  • p.Gly166= No assertion criteria SEMA3B-related disorder
  • p.Gly188= No assertion criteria SEMA3B-related disorder
  • p.Gly473Ala No assertion criteria SEMA3B-related disorder
  • p.Gly640Ser No assertion criteria SEMA3B-related disorder
  • p.His444Asn No assertion criteria SEMA3B-related disorder
  • p.His74= No assertion criteria SEMA3B-related disorder
  • p.Leu193= No assertion criteria SEMA3B-related disorder
  • p.Leu21= No assertion criteria SEMA3B-related disorder
  • p.Leu413= No assertion criteria SEMA3B-related disorder
  • p.Leu49= No assertion criteria SEMA3B-related disorder
  • p.Leu629= No assertion criteria SEMA3B-related disorder
  • p.Leu721= No assertion criteria SEMA3B-related disorder
  • p.Pro152= No assertion criteria SEMA3B-related disorder
  • p.Pro93= No assertion criteria SEMA3B-related disorder
  • p.Ser178= No assertion criteria SEMA3B-related disorder
  • p.Ser263= No assertion criteria SEMA3B-related disorder
  • p.Ser27Arg No assertion criteria SEMA3B-related disorder
  • p.Ser314Cys No assertion criteria SEMA3B-related disorder
  • p.Ser315= No assertion criteria SEMA3B-related disorder
  • p.Ser490Arg No assertion criteria SEMA3B-related disorder ⚠
  • p.Ser495= No assertion criteria SEMA3B-related disorder
  • p.Ser596= No assertion criteria SEMA3B-related disorder
  • p.Thr524= No assertion criteria SEMA3B-related disorder
  • p.Thr622= No assertion criteria SEMA3B-related disorder
  • p.Thr652= No assertion criteria SEMA3B-related disorder
  • p.Val179Met No assertion criteria SEMA3B-related disorder ⚠
  • p.Val460= No assertion criteria SEMA3B-related disorder
  • p.Val696= No assertion criteria SEMA3B-related disorder

Uncertain significance 140