Sugi Variant

Sugi Variant/KIF12

KIF12 — 179 ClinVar variants

All ClinVar germline KIF12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →

5 Pathogenic · 9 Likely pathogenic · 3 Conflicting · 18 Benign · 38 Likely benign · 106 Uncertain significance

Full KIF12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 102

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 89

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

Predictors split 9

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

All KIF12 variants

Pathogenic 5

  • p.Arg293Ter Multiple submitters cholestasis, progressive familial intrahepatic, 8
  • p.Ala519fs Single submitter
  • p.Arg233Ter Single submitter cholestasis, progressive familial intrahepatic, 8
  • p.Tyr241fs Single submitter
  • p.Arg357Ter No assertion criteria cholestasis, progressive familial intrahepatic, 8

Likely pathogenic 9

  • p.Val342Met Multiple submitters cholestasis, progressive familial intrahepatic, 8
  • c.1698-1G>C Single submitter
  • c.375+1G>T Single submitter cholestasis, progressive familial intrahepatic, 8
  • c.896dup Single submitter cholestasis, progressive familial intrahepatic, 8
  • c.92+2T>C Single submitter cholestasis, progressive familial intrahepatic, 8
  • p.Ala144fs Single submitter cholestasis, progressive familial intrahepatic, 8
  • p.Arg542fs Single submitter cholestasis, progressive familial intrahepatic, 8
  • p.Arg575Ter Single submitter cholestasis, progressive familial intrahepatic, 8
  • p.Arg368Gln No assertion criteria cholestasis, progressive familial intrahepatic, 8 ⚠

Conflicting classifications of pathogenicity 3

Benign 18

Likely benign 38

Uncertain significance 106