Sugi Variant

Sugi Variant/SEMA3E

SEMA3E — 893 ClinVar variants

All ClinVar germline SEMA3E variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 392 flagged for review →

2 Likely pathogenic · 18 Conflicting · 99 Benign · 12 Benign/Likely benign · 305 Likely benign · 457 Uncertain significance

Full SEMA3E gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 392

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 12

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

Predictors lean, ClinVar uncertain 331

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 331

Predictors split 49

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

All SEMA3E variants

Likely pathogenic 2

  • p.Arg208fs Single submitter CHARGE syndrome
  • p.Val662fs Single submitter CHD7-related CHARGE syndrome

Conflicting classifications of pathogenicity 18

Benign 99

Benign/Likely benign 12

  • c.337-11del Multiple submitters CHARGE syndrome
  • c.337-11dup Multiple submitters CHARGE syndrome
  • c.551-19del Multiple submitters CHARGE syndrome
  • c.551-6G>A Multiple submitters CHARGE syndrome
  • p.Arg560= Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
  • p.Asn300= Multiple submitters CHARGE syndrome
  • p.Gln575= Multiple submitters CHARGE syndrome
  • p.Ile612Phe Multiple submitters CHARGE syndrome
  • p.Phe246Leu Multiple submitters CHARGE syndrome ⚠
  • p.Ser701Ile Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
  • p.Ser761= Multiple submitters CHARGE syndrome
  • p.Thr317= Multiple submitters CHARGE syndrome

Likely benign 305

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

Uncertain significance 457

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