Sugi Variant

Sugi Variant/KIF2A

KIF2A — 646 ClinVar variants

All ClinVar germline KIF2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 180 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 14 Conflicting · 86 Benign · 14 Benign/Likely benign · 295 Likely benign · 230 Uncertain significance

Full KIF2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 180

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 7

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

Predictors lean, ClinVar uncertain 140

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

Predictors split 32

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

All KIF2A variants

Pathogenic 3

  • p.Ser317Asn Multiple submitters complex cortical dysplasia with other brain malformations 3
  • p.Arg95Ter No assertion criteria complex cortical dysplasia with other brain malformations 3
  • p.His321Asp No assertion criteria complex cortical dysplasia with other brain malformations 3

Pathogenic/Likely pathogenic 1

  • p.Thr320Ile Multiple submitters complex cortical dysplasia with other brain malformations 3

Likely pathogenic 3

  • p.Glu73Lys Multiple submitters complex cortical dysplasia with other brain malformations 3 ⚠
  • p.Gly313Glu Multiple submitters complex cortical dysplasia with other brain malformations 3
  • p.Asn482His No assertion criteria Abnormal cerebral morphology

Conflicting classifications of pathogenicity 14

Benign 86

Benign/Likely benign 14

Likely benign 295

Uncertain significance 230