Sugi Variant

Sugi Variant/SALL4

SALL4 — 631 ClinVar variants

All ClinVar germline SALL4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 326 flagged for review →

40 Pathogenic · 2 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 48 Conflicting · 23 Benign · 24 Benign/Likely benign · 148 Likely benign · 331 Uncertain significance

Full SALL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 326

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 33

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

Predictors lean, ClinVar uncertain 248

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 248

Predictors split 45

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

All SALL4 variants

Pathogenic 40

Pathogenic/Likely pathogenic 2

  • c.131-2del Multiple submitters Duane-radial ray syndrome
  • p.Arg865Ter Multiple submitters Duane-radial ray syndrome

Likely pathogenic 15

  • c.131-2A>G Single submitter Duane-radial ray syndrome
  • p.Arg905Ter Single submitter Duane-radial ray syndrome
  • p.Gln1020fs Single submitter Duane-radial ray syndrome
  • p.Gln238fs Single submitter SALL4-Related Disorders
  • p.Gln440fs Single submitter congenital anomaly of kidney and urinary tract
  • p.Leu472fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
  • p.Leu658_Pro659insTer Single submitter Duane-radial ray syndrome
  • p.Leu858fs Single submitter IVIC syndrome
  • p.Ser460fs Single submitter SALL4-Related Disorders
  • p.Ser698fs Single submitter SALL4-Related Disorders
  • p.Ser800_Lys801insTer Single submitter SALL4-Related Disorders
  • p.Thr493fs Single submitter SALL4-Related Disorders
  • p.Trp213Ter Single submitter Duane-radial ray syndrome
  • p.Val693fs Single submitter
  • p.Gly128fs No assertion criteria Duane-radial ray syndrome

Conflicting classifications of pathogenicity 48

Benign 23

Benign/Likely benign 24

  • p.Ala203= Multiple submitters IVIC syndrome
  • p.Ala254= Multiple submitters Duane-radial ray syndrome
  • p.Ala451= Multiple submitters Duane-radial ray syndrome
  • p.Ala739Ser Multiple submitters Duane-radial ray syndrome
  • p.Arg831= Multiple submitters Duane-radial ray syndrome
  • p.Asn180= Multiple submitters IVIC syndrome
  • p.Asn676= Multiple submitters Duane-radial ray syndrome
  • p.Asp686del Multiple submitters Duane-radial ray syndrome
  • p.Asp945= Multiple submitters Duane-radial ray syndrome
  • p.Glu113= Multiple submitters Duane-radial ray syndrome
  • p.Gly1035= Multiple submitters Duane-radial ray syndrome
  • p.Gly650= Multiple submitters IVIC syndrome
  • p.Gly680Ser Multiple submitters Inborn genetic diseases
  • p.Ile798Leu Multiple submitters Duane-radial ray syndrome
  • p.Leu722= Multiple submitters IVIC syndrome
  • p.Pro504= Multiple submitters Duane-radial ray syndrome
  • p.Pro519= Multiple submitters IVIC syndrome
  • p.Pro593= Multiple submitters Duane-radial ray syndrome
  • p.Pro740Ala Multiple submitters IVIC syndrome
  • p.Ser883= Multiple submitters Duane-radial ray syndrome
  • p.Thr232= Multiple submitters Duane-radial ray syndrome
  • p.Thr499= Multiple submitters Duane-radial ray syndrome
  • p.Thr679= Multiple submitters Duane-radial ray syndrome
  • p.Val371= Multiple submitters Duane-radial ray syndrome

Likely benign 148

Uncertain significance 331

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