Sugi Variant

Sugi Variant/NEK8

NEK8 — 474 ClinVar variants

All ClinVar germline NEK8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 233 flagged for review →

12 Pathogenic · 8 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 16 Conflicting · 12 Benign · 7 Benign/Likely benign · 114 Likely benign · 284 Uncertain significance

Full NEK8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 233

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 5

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

Predictors lean, ClinVar uncertain 163

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 163

Predictors split 64

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

All NEK8 variants

Pathogenic 12

Pathogenic/Likely pathogenic 8

  • c.1418-1G>A Multiple submitters nephronophthisis 9
  • c.828-1G>C Multiple submitters nephronophthisis 9
  • p.Arg127Ter Multiple submitters NEK8-related disorder
  • p.Arg499Ter Multiple submitters renal-hepatic-pancreatic dysplasia 2
  • p.Arg599Ter Multiple submitters NEK8-related disorder
  • p.Glu444Ter Multiple submitters renal-hepatic-pancreatic dysplasia 2
  • p.His454fs Multiple submitters nephronophthisis 9
  • p.Trp467Ter Multiple submitters renal-hepatic-pancreatic dysplasia 2

Likely pathogenic 21

Conflicting classifications of pathogenicity 16

Benign 12

Benign/Likely benign 7

  • c.1732+8_1732+10del Multiple submitters nephronophthisis 9
  • c.*19T>C Multiple submitters nephronophthisis 9
  • p.Ala497Pro Multiple submitters renal-hepatic-pancreatic dysplasia 2
  • p.Gly646= Multiple submitters nephronophthisis 9
  • p.His590= Multiple submitters nephronophthisis 9
  • p.Thr667= Multiple submitters nephronophthisis 9
  • p.Val544= Multiple submitters nephronophthisis 9

Likely benign 114

Uncertain significance 284