Sugi Variant

Sugi Variant/KIF7

KIF7 — 1710 ClinVar variants

All ClinVar germline KIF7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 792 flagged for review →

46 Pathogenic · 18 Pathogenic/Likely pathogenic · 46 Likely pathogenic · 94 Conflicting · 53 Benign · 22 Benign/Likely benign · 553 Likely benign · 878 Uncertain significance

Full KIF7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 792

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 37

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

Predictors lean, ClinVar uncertain 609

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 609

Predictors split 146

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

All KIF7 variants

Pathogenic 46

Pathogenic/Likely pathogenic 18

  • c.328+2T>G Multiple submitters Inborn genetic diseases
  • p.Ala369fs Multiple submitters KIF7-related disorder
  • p.Ala854fs Multiple submitters KIF7-related disorder
  • p.Arg21Ter Multiple submitters KIF7-related disorder
  • p.Arg23Ter Multiple submitters multiple epiphyseal dysplasia, Al-Gazali type
  • p.Arg424fs Multiple submitters KIF7-related disorder
  • p.Arg549fs Multiple submitters KIF7-related disorder
  • p.Arg687Ter Multiple submitters acrocallosal syndrome
  • p.Asp417fs Multiple submitters multiple epiphyseal dysplasia, Al-Gazali type
  • p.Gln1079Ter Multiple submitters multiple epiphyseal dysplasia, Al-Gazali type
  • p.Gln1145Ter Multiple submitters acrocallosal syndrome
  • p.Gln293fs Multiple submitters acrocallosal syndrome
  • p.Gln816Ter Multiple submitters acrocallosal syndrome
  • p.Gln839Ter Multiple submitters acrocallosal syndrome
  • p.Glu982Ter Multiple submitters KIF7-related disorder
  • p.Gly241fs Multiple submitters acrocallosal syndrome
  • p.Ile119fs Multiple submitters multiple epiphyseal dysplasia, Al-Gazali type
  • p.Ile384fs Multiple submitters hydrolethalus syndrome 2

Likely pathogenic 46

Conflicting classifications of pathogenicity 94

Benign 53

Benign/Likely benign 22

Likely benign 553

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 878

Showing the top 300 by review status; the full set is in the sitemap.