Sugi Variant

Sugi Variant/SEMA4A

SEMA4A — 712 ClinVar variants

All ClinVar germline SEMA4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 369 flagged for review →

3 Pathogenic · 6 Likely pathogenic · 46 Conflicting · 8 Benign · 14 Benign/Likely benign · 206 Likely benign · 429 Uncertain significance

Full SEMA4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 369

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 17

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

Predictors lean, ClinVar uncertain 292

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 292

Predictors split 60

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

All SEMA4A variants

Pathogenic 3

  • p.Gln329Ter Single submitter helicoid peripapillary chorioretinal degeneration
  • p.Glu249fs Single submitter retinitis pigmentosa
  • p.Phe350Cys No assertion criteria retinitis pigmentosa 35

Likely pathogenic 6

Conflicting classifications of pathogenicity 46

Benign 8

Benign/Likely benign 14

Likely benign 206

Uncertain significance 429

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