Sugi Variant

Sugi Variant/KIF4A

KIF4A — 267 ClinVar variants

All ClinVar germline KIF4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 183 flagged for review →

6 Pathogenic · 2 Likely pathogenic · 7 Conflicting · 12 Benign · 2 Benign/Likely benign · 42 Likely benign · 196 Uncertain significance

Full KIF4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 183

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 6

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

Predictors lean, ClinVar uncertain 151

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 151

Predictors split 25

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

All KIF4A variants

Pathogenic 6

  • c.1489-8_1490delinsATAATGAAAG No assertion criteria intellectual disability, X-linked 100
  • c.1674+1G>A No assertion criteria intellectual disability, X-linked 100
  • p.Arg771Lys No assertion criteria taurodontism, microdontia, and dens invaginatus
  • p.Asp255Asn No assertion criteria intellectual disability, X-linked 100 ⚠
  • p.Asp317His No assertion criteria taurodontism, microdontia, and dens invaginatus ⚠
  • p.Leu539Pro No assertion criteria intellectual disability, X-linked 100

Likely pathogenic 2

  • c.1778+21T>C Single submitter intellectual disability, X-linked 100
  • p.Arg265Leu No assertion criteria isolated cerebellar hypoplasia/agenesis ⚠

Conflicting classifications of pathogenicity 7

Benign 12

  • c.2118+7A>G Multiple submitters
  • c.3073-4C>T Multiple submitters intellectual disability, X-linked 100
  • c.3372+11G>T Multiple submitters intellectual disability, X-linked 100
  • p.Ala426Ser Multiple submitters
  • p.Pro9= Multiple submitters intellectual disability, X-linked 100
  • p.Thr323= Multiple submitters intellectual disability, X-linked 100
  • p.Tyr329= Multiple submitters intellectual disability, X-linked 100
  • p.Val805= Multiple submitters
  • p.Ala491Val Single submitter
  • p.Leu422Trp No assertion criteria KIF4A-related disorder
  • p.Pro552= No assertion criteria KIF4A-related disorder
  • p.Thr1146= No assertion criteria KIF4A-related disorder

Benign/Likely benign 2

  • p.Leu687= Multiple submitters intellectual disability, X-linked 100
  • p.Pro154= Multiple submitters

Likely benign 42

Uncertain significance 196