Sugi Variant

Sugi Variant/SALL1

SALL1 — 793 ClinVar variants

All ClinVar germline SALL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 397 flagged for review →

87 Pathogenic · 6 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 62 Conflicting · 23 Benign · 38 Benign/Likely benign · 162 Likely benign · 383 Uncertain significance

Full SALL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 397

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 2

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

Predictors agree, ClinVar conflicts 41

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 297

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 297

Predictors split 55

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

All SALL1 variants

Pathogenic 87

Pathogenic/Likely pathogenic 6

  • p.Arg1054Ter Multiple submitters Townes-Brocks syndrome
  • p.Arg276Ter Multiple submitters Townes-Brocks syndrome
  • p.Gln201Ter Multiple submitters Townes-Brocks syndrome 1
  • p.Gln237Ter Multiple submitters Townes-Brocks syndrome 1
  • p.Gln291Ter Multiple submitters Townes-Brocks syndrome 1
  • p.Pro797fs Multiple submitters Townes-Brocks syndrome 1

Likely pathogenic 32

Conflicting classifications of pathogenicity 62

Benign 23

Benign/Likely benign 38

  • c.3535-44CT[6] Multiple submitters
  • c.76+26AC[5] Multiple submitters
  • p.Ala1074= Multiple submitters Townes-Brocks syndrome
  • p.Ala1222Val Multiple submitters Townes-Brocks syndrome
  • p.Ala637= Multiple submitters Townes-Brocks syndrome
  • p.Arg726= Multiple submitters Townes-Brocks syndrome
  • p.Asn1243= Multiple submitters Townes-Brocks syndrome
  • p.Asn1291Ser Multiple submitters Townes-Brocks syndrome
  • p.Asn777= Multiple submitters Townes-Brocks syndrome
  • p.Gln13= Multiple submitters Townes-Brocks syndrome
  • p.Gln848= Multiple submitters Townes-Brocks syndrome
  • p.Glu626Asp Multiple submitters Townes-Brocks syndrome
  • p.Gly1265Glu Multiple submitters Townes-Brocks syndrome
  • p.Gly160Ser Multiple submitters Townes-Brocks syndrome
  • p.Gly163dup Multiple submitters Townes-Brocks syndrome
  • p.Gly650= Multiple submitters Townes-Brocks syndrome
  • p.His43= Multiple submitters Townes-Brocks syndrome
  • p.Ile73= Multiple submitters Townes-Brocks syndrome
  • p.Leu179= Multiple submitters Townes-Brocks syndrome
  • p.Leu781= Multiple submitters Townes-Brocks syndrome
  • p.Leu877= Multiple submitters Townes-Brocks syndrome
  • p.Met98Val Multiple submitters Townes-Brocks syndrome
  • p.Phe1314= Multiple submitters Townes-Brocks syndrome
  • p.Pro1104Ala Multiple submitters Townes-Brocks syndrome
  • p.Pro130= Multiple submitters Townes-Brocks syndrome
  • p.Pro270Leu Multiple submitters Townes-Brocks syndrome
  • p.Pro577= Multiple submitters Townes-Brocks syndrome
  • p.Ser157_Ser159dup Multiple submitters Townes-Brocks syndrome
  • p.Ser158Gly Multiple submitters Townes-Brocks syndrome
  • p.Ser159_Gly160insSerGly Multiple submitters Townes-Brocks syndrome
  • p.Ser159del Multiple submitters Townes-Brocks syndrome
  • p.Ser159dup Multiple submitters Townes-Brocks syndrome 1
  • p.Ser159Gly Multiple submitters Townes-Brocks syndrome 1
  • p.Ser400= Multiple submitters Townes-Brocks syndrome
  • p.Ser88= Multiple submitters Townes-Brocks syndrome
  • p.Thr1040= Multiple submitters Townes-Brocks syndrome
  • p.Thr522Met Multiple submitters Townes-Brocks syndrome
  • p.Val127Leu Multiple submitters Townes-Brocks syndrome

Likely benign 162

Uncertain significance 383

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