Sugi Variant

Sugi Variant/NCKAP1L

NCKAP1L — 561 ClinVar variants

All ClinVar germline NCKAP1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 170 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 7 Conflicting · 23 Benign · 12 Benign/Likely benign · 317 Likely benign · 189 Uncertain significance

Full NCKAP1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 170

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 7

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

Predictors lean, ClinVar uncertain 121

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

Predictors split 37

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

All NCKAP1L variants

Pathogenic 3

  • c.2862+1G>A No assertion criteria immunodeficiency 72 with autoinflammation
  • p.Arg129Trp No assertion criteria immunodeficiency 72 with autoinflammation ⚠
  • p.Val141Phe No assertion criteria immunodeficiency 72 with autoinflammation ⚠

Pathogenic/Likely pathogenic 1

  • p.Met371Val Multiple submitters immunodeficiency 72 with autoinflammation ⚠

Likely pathogenic 9

  • c.784+2T>G Single submitter
  • p.Ala236fs Single submitter NCKAP1L-related disorder
  • p.Arg258Leu Single submitter immunodeficiency 72 with autoinflammation ⚠
  • p.Met1Thr Single submitter immunodeficiency 72 with autoinflammation
  • p.Met371Leu Single submitter immunodeficiency 72 with autoinflammation ⚠
  • p.Ser539Phe Single submitter NCKAP1L-related disorder
  • p.Val519Leu Single submitter immunodeficiency 72 with autoinflammation ⚠
  • p.Ala1116Thr No assertion criteria immunodeficiency 72 with autoinflammation
  • p.Val498Met No assertion criteria immunodeficiency 72 with autoinflammation ⚠

Conflicting classifications of pathogenicity 7

Benign 23

Benign/Likely benign 12

Likely benign 317

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

Uncertain significance 189