NEK10 — 116 ClinVar variants

All ClinVar germline NEK10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

6 Pathogenic · 6 Likely pathogenic · 1 Conflicting · 12 Benign · 14 Likely benign · 77 Uncertain significance

Full NEK10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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 lean, ClinVar uncertain 58

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

All NEK10 variants

Pathogenic 6

  • p.Met662Lys Single submitter primary ciliary dyskinesia
  • p.Phe87fs Single submitter ciliary dyskinesia, primary, 44
  • p.Ser386fs Single submitter ciliary dyskinesia, primary, 44
  • p.Arg773Cys No assertion criteria ciliary dyskinesia, primary, 44
  • p.His624fs No assertion criteria ciliary dyskinesia, primary, 44
  • p.Pro748Leu No assertion criteria ciliary dyskinesia, primary, 44 ⚠

Likely pathogenic 6

  • c.1230+5G>C Multiple submitters ciliary dyskinesia, primary, 44
  • c.1028+1G>T Single submitter
  • c.1743+1G>C Single submitter ciliary dyskinesia, primary, 44
  • c.489+1G>A Single submitter ciliary dyskinesia, primary, 44
  • p.Pro728Ser Single submitter ciliary dyskinesia, primary, 44
  • p.Val326Ter Single submitter ciliary dyskinesia, primary, 44

Conflicting classifications of pathogenicity 1

  • p.Tyr1094Ter Single submitter ciliary dyskinesia, primary, 44

Benign 12

  • c.2505+22G>T Multiple submitters ciliary dyskinesia, primary, 44
  • c.2869+140C>T Multiple submitters ciliary dyskinesia, primary, 44
  • c.-37-9A>C Multiple submitters ciliary dyskinesia, primary, 44
  • p.Asn401Ser Multiple submitters
  • p.Asn597= Multiple submitters ciliary dyskinesia, primary, 44
  • p.Asn659Ser Multiple submitters
  • p.Gly558= Multiple submitters ciliary dyskinesia, primary, 44
  • p.Leu513Ser Multiple submitters ciliary dyskinesia, primary, 44
  • p.Thr670= Multiple submitters ciliary dyskinesia, primary, 44
  • p.Thr687= Multiple submitters ciliary dyskinesia, primary, 44
  • p.Val749= Multiple submitters ciliary dyskinesia, primary, 44
  • p.Ala770Val Single submitter

Likely benign 14

Uncertain significance 77