Sugi Variant

Sugi Variant/CDC14A

CDC14A — 295 ClinVar variants

All ClinVar germline CDC14A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →

7 Pathogenic · 4 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 8 Conflicting · 54 Benign · 8 Benign/Likely benign · 86 Likely benign · 120 Uncertain significance

Full CDC14A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 108

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 2

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

Predictors lean, ClinVar uncertain 67

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

Predictors split 39

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

All CDC14A variants

Pathogenic 7

Pathogenic/Likely pathogenic 4

  • p.Arg312Gln Multiple submitters autosomal recessive nonsyndromic hearing loss 32
  • p.Arg312Gly Multiple submitters autosomal recessive nonsyndromic hearing loss 32
  • p.Arg345Ter Multiple submitters ear malformation
  • p.Arg376Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 32

Likely pathogenic 8

Conflicting classifications of pathogenicity 8

Benign 54

Benign/Likely benign 8

Likely benign 86

Uncertain significance 120