Sugi Variant

Sugi Variant/ZFPM2

ZFPM2 — 320 ClinVar variants

All ClinVar germline ZFPM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 192 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 14 Conflicting · 25 Benign · 13 Benign/Likely benign · 64 Likely benign · 189 Uncertain significance

Full ZFPM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 192

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 3

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

Predictors agree, ClinVar conflicts 13

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

Predictors lean, ClinVar uncertain 136

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 40

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

All ZFPM2 variants

Pathogenic 6

Pathogenic/Likely pathogenic 1

  • p.Arg112Ter Multiple submitters diaphragmatic hernia 3

Likely pathogenic 8

Conflicting classifications of pathogenicity 14

Benign 25

Benign/Likely benign 13

  • c.302-13C>T Multiple submitters 46,XY sex reversal 9
  • c.40+12C>G Multiple submitters 46,XY sex reversal 9
  • c.41-4C>A Multiple submitters 46,XY sex reversal 9
  • c.965-11T>C Multiple submitters 46,XY sex reversal 9
  • p.Ala403Gly Multiple submitters 46,XY sex reversal 9
  • p.Ala426Thr Multiple submitters 46,XY sex reversal 9
  • p.Arg526= Multiple submitters 46,XY sex reversal 9
  • p.Glu30Gly Multiple submitters 46,XY sex reversal 9
  • p.His699= Multiple submitters 46,XY sex reversal 9
  • p.Pro810= Multiple submitters 46,XY sex reversal 9
  • p.Ser210Thr Multiple submitters 46,XY sex reversal 9
  • p.Ser657Gly Multiple submitters 46,XY sex reversal 9
  • p.Val339Ile Multiple submitters 46,XY sex reversal 9

Likely benign 64

Uncertain significance 189