Sugi Variant

Sugi Variant/ZNF335

ZNF335 — 738 ClinVar variants

All ClinVar germline ZNF335 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 369 flagged for review →

13 Pathogenic · 2 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 32 Conflicting · 54 Benign · 21 Benign/Likely benign · 232 Likely benign · 371 Uncertain significance

Full ZNF335 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 vs ClinVar 1

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

Predictors agree, ClinVar conflicts 15

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

Predictors lean, ClinVar uncertain 280

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 280

Predictors split 73

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

All ZNF335 variants

Pathogenic 13

Pathogenic/Likely pathogenic 2

  • p.Arg660Ter Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency
  • p.Ser915fs Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency

Likely pathogenic 13

  • c.1356-1G>A Single submitter
  • c.2443-2A>T Single submitter
  • c.3487+1G>C Single submitter microcephalic primordial dwarfism due to ZNF335 deficiency
  • c.3488-1G>A Single submitter
  • p.Arg1111His Single submitter microcephalic primordial dwarfism due to ZNF335 deficiency ⚠
  • p.Cys630fs Single submitter
  • p.Glu1100Ter Single submitter
  • p.His487Arg Single submitter microcephalic primordial dwarfism due to ZNF335 deficiency
  • p.Ser666Phe Single submitter microcephalic primordial dwarfism due to ZNF335 deficiency ⚠
  • p.Thr840fs Single submitter microcephalic primordial dwarfism due to ZNF335 deficiency
  • p.Tyr502Cys Single submitter microcephalic primordial dwarfism due to ZNF335 deficiency ⚠
  • p.Val107fs Single submitter microcephalic primordial dwarfism due to ZNF335 deficiency
  • p.Arg355fs No assertion criteria ZNF335-related disorder

Conflicting classifications of pathogenicity 32

Benign 54

Benign/Likely benign 21

  • c.1102+9T>C Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency
  • c.1646+8T>G Multiple submitters
  • c.2815-8C>T Multiple submitters
  • c.3488-6G>A Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency
  • c.3670-16dup Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency
  • c.3820-11C>T Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency
  • c.3820-7_3820-6del Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency
  • p.Ala276Thr Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency
  • p.Ala941Thr Multiple submitters
  • p.Arg1063= Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency
  • p.Asp1155= Multiple submitters
  • p.Asp78Glu Multiple submitters
  • p.Glu372= Multiple submitters
  • p.His1169= Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency
  • p.Phe723Val Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency
  • p.Pro1060= Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency
  • p.Pro1267Gln Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency
  • p.Pro834Ser Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency
  • p.Thr1163= Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency
  • p.Thr996Ala Multiple submitters
  • p.Val35Leu Multiple submitters microcephalic primordial dwarfism due to ZNF335 deficiency

Likely benign 232

Uncertain significance 371

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