Sugi Variant

Sugi Variant/KIF5B

KIF5B — 126 ClinVar variants

All ClinVar germline KIF5B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 3 Conflicting · 6 Benign · 8 Likely benign · 101 Uncertain significance

Full KIF5B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 88

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 3

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

Predictors lean, ClinVar uncertain 61

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

Predictors split 23

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

All KIF5B variants

Pathogenic 3

  • p.Leu498Pro Single submitter Severe muscular hypotonia
  • p.Gly234Val No assertion criteria KYPHOMELIC DYSPLASIA, ITAI-IKEGAWA TYPE
  • p.Lys91Arg No assertion criteria KYPHOMELIC DYSPLASIA, ITAI-IKEGAWA TYPE

Pathogenic/Likely pathogenic 1

  • p.Asn255del Multiple submitters dilated cardiomyopathy

Likely pathogenic 4

Conflicting classifications of pathogenicity 3

Benign 6

Likely benign 8

Uncertain significance 101