Sugi Variant

Sugi Variant/ZNF423

ZNF423 — 978 ClinVar variants

All ClinVar germline ZNF423 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 499 flagged for review →

3 Pathogenic · 2 Likely pathogenic · 30 Conflicting · 16 Benign · 27 Benign/Likely benign · 388 Likely benign · 512 Uncertain significance

Full ZNF423 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 499

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 19

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

Predictors lean, ClinVar uncertain 356

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 356

Predictors split 124

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

All ZNF423 variants

Pathogenic 3

Likely pathogenic 2

  • p.Arg1162fs Single submitter Autosomal recessive ZNF423-related disorders
  • p.Gly852Glu Single submitter ZNF423-related disorder ⚠

Conflicting classifications of pathogenicity 30

Benign 16

Benign/Likely benign 27

  • c.100+13G>A Multiple submitters nephronophthisis 14
  • c.3517-18T>C Multiple submitters nephronophthisis 14
  • c.3602-16C>T Multiple submitters nephronophthisis 14
  • p.Ala1055Val Multiple submitters nephronophthisis 14
  • p.Ala1060= Multiple submitters nephronophthisis 14
  • p.Ala1121Thr Multiple submitters nephronophthisis 14
  • p.Ala442= Multiple submitters nephronophthisis 14
  • p.Ala609= Multiple submitters nephronophthisis 14
  • p.Arg237= Multiple submitters nephronophthisis 14
  • p.Asn637Ser Multiple submitters nephronophthisis 14
  • p.Asp520= Multiple submitters nephronophthisis 14
  • p.Cys1100= Multiple submitters nephronophthisis 14
  • p.Cys151= Multiple submitters nephronophthisis 14
  • p.His662= Multiple submitters nephronophthisis 14
  • p.His776= Multiple submitters nephronophthisis 14
  • p.Leu1076Met Multiple submitters nephronophthisis 14
  • p.Leu455= Multiple submitters nephronophthisis 14
  • p.Pro1004= Multiple submitters nephronophthisis 14
  • p.Pro1131= Multiple submitters nephronophthisis 14
  • p.Pro559= Multiple submitters nephronophthisis 14
  • p.Pro623= Multiple submitters nephronophthisis 14
  • p.Pro854= Multiple submitters nephronophthisis 14
  • p.Ser29= Multiple submitters nephronophthisis 14
  • p.Ser377= Multiple submitters nephronophthisis 14
  • p.Ser711= Multiple submitters nephronophthisis 14
  • p.Tyr1097= Multiple submitters nephronophthisis 14
  • p.Val1112= Multiple submitters nephronophthisis 14

Likely benign 388

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

Uncertain significance 512

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