Sugi Variant

Sugi Variant/KIF5A

KIF5A — 1504 ClinVar variants

All ClinVar germline KIF5A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 550 flagged for review →

39 Pathogenic · 12 Pathogenic/Likely pathogenic · 54 Likely pathogenic · 95 Conflicting · 46 Benign · 23 Benign/Likely benign · 619 Likely benign · 616 Uncertain significance

Full KIF5A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 550

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 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 55

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

Predicted LoF vs a conflicting call 3

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 338

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 338

Predictors split 149

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

All KIF5A variants

Pathogenic 39

Pathogenic/Likely pathogenic 12

Likely pathogenic 54

Conflicting classifications of pathogenicity 95

Benign 46

Benign/Likely benign 23

  • c.1293+9G>A Multiple submitters Spastic paraplegia
  • c.2023+14A>G Multiple submitters Spastic paraplegia
  • c.2024-8T>G Multiple submitters Spastic paraplegia
  • c.2199-4G>A Multiple submitters myoclonus, intractable, neonatal
  • c.2538+8T>G Multiple submitters Spastic paraplegia
  • c.292-5G>A Multiple submitters Spastic paraplegia
  • c.3020+22del Multiple submitters Spastic paraplegia
  • c.396+14G>A Multiple submitters hereditary spastic paraplegia 10
  • c.397-16_397-14del Multiple submitters Spastic paraplegia
  • c.446-18T>C Multiple submitters Spastic paraplegia
  • c.714+8G>A Multiple submitters hereditary spastic paraplegia
  • c.715-20A>G Multiple submitters Spastic paraplegia
  • c.820-19G>T Multiple submitters Spastic paraplegia
  • c.820-9C>A Multiple submitters myoclonus, intractable, neonatal
  • p.Arg923= Multiple submitters amyotrophic lateral sclerosis, susceptibility to, 25
  • p.Asn20= Multiple submitters Spastic paraplegia
  • p.Asp804= Multiple submitters Spastic paraplegia
  • p.His157= Multiple submitters Spastic paraplegia
  • p.Ile944= Multiple submitters Spastic paraplegia
  • p.Leu363= Multiple submitters Spastic paraplegia
  • p.Phe801= Multiple submitters hereditary spastic paraplegia 10
  • p.Pro177= Multiple submitters Spastic paraplegia
  • p.Val680= Multiple submitters Spastic paraplegia

Likely benign 619

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

Uncertain significance 616

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