NEK5 — 104 ClinVar variants

All ClinVar germline NEK5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →

9 Likely benign · 95 Uncertain significance

Full NEK5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 92

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 lean, ClinVar uncertain 85

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

Predictors split 7

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

All NEK5 variants

Likely benign 9

p.Met576Val Multiple submitters
c.1975+58C>T Single submitter
p.Arg290Gln Single submitter
p.Asn68Ser Single submitter
p.Asp525Tyr Single submitter
p.Phe618Leu Single submitter
p.Pro264Ala Single submitter
p.Thr394= Single submitter
p.Val646Ala Single submitter

Uncertain significance 95

c.1975+24C>T Single submitter ⚠
c.1975+25G>A Single submitter ⚠
c.1975+32A>T Single submitter ⚠
c.1975+49C>T Single submitter ⚠
c.1975+60G>A Single submitter ⚠
p.Ala18Ser Single submitter ⚠
p.Ala286Val Single submitter ⚠
p.Ala324Val Single submitter ⚠
p.Ala340Val Single submitter ⚠
p.Ala372Val Single submitter ⚠
p.Ala550Thr Single submitter ⚠
p.Ala645Val Single submitter ⚠
p.Arg245Gln Single submitter ⚠
p.Arg247Gln Single submitter ⚠
p.Arg328Ile Single submitter ⚠
p.Arg490Thr Single submitter ⚠
p.Arg630Ser Single submitter
p.Arg75Thr Single submitter ⚠
p.Asn36Ser Single submitter ⚠
p.Asn437Asp Single submitter ⚠
p.Asn495Lys Single submitter ⚠
p.Asn580Lys Single submitter ⚠
p.Asn93Ser Single submitter ⚠
p.Asp147Val Single submitter ⚠
p.Asp525His Single submitter ⚠
p.Asp566Asn Single submitter ⚠
p.Asp5Gly Single submitter ⚠
p.Asp633Val Single submitter ⚠
p.Asp648Asn Single submitter ⚠
p.Cys299Arg Single submitter ⚠
p.Gln111Arg Single submitter ⚠
p.Gln238Lys Single submitter ⚠
p.Gln273Glu Single submitter ⚠
p.Gln307Pro Single submitter ⚠
p.Gln415Arg Single submitter ⚠
p.Gln438Arg Single submitter ⚠
p.Gln43Arg Single submitter ⚠
p.Glu347Gln Single submitter ⚠
p.Glu433Gln Single submitter ⚠
p.Glu44Gly Single submitter ⚠
p.Glu46Ala Single submitter ⚠
p.Glu520Gln Single submitter ⚠
p.Glu520Lys Single submitter ⚠
p.Glu527Lys Single submitter ⚠
p.Glu609Gly Single submitter ⚠
p.Gly391Ser Single submitter ⚠
p.Gly426Ser Single submitter ⚠
p.Gly426Val Single submitter ⚠
p.Gly627Arg Single submitter ⚠
p.Gly635Glu Single submitter ⚠
p.Gly97Ser Single submitter ⚠
p.His378Tyr Single submitter ⚠
p.His60Arg Single submitter ⚠
p.Ile112Phe Single submitter
p.Ile129Val Single submitter ⚠
p.Ile224Met Single submitter ⚠
p.Ile224Val Single submitter ⚠
p.Ile281Thr Single submitter ⚠
p.Ile316Leu Single submitter ⚠
p.Ile53Val Single submitter ⚠
p.Leu235Phe Single submitter ⚠
p.Leu368Val Single submitter ⚠
p.Leu54Ile Single submitter ⚠
p.Lys309Arg Single submitter ⚠
p.Lys309Glu Single submitter ⚠
p.Lys49Glu Single submitter ⚠
p.Lys592Asn Single submitter ⚠
p.Met461Arg Single submitter ⚠
p.Met481Val Single submitter ⚠
p.Met589Ile Single submitter ⚠
p.Phe15Leu Single submitter ⚠
p.Phe221Ser Single submitter ⚠
p.Phe66Ser Single submitter ⚠
p.Pro180His Single submitter ⚠
p.Pro226Leu Single submitter ⚠
p.Pro244Leu Single submitter
p.Pro319Ser Single submitter ⚠
p.Pro375Leu Single submitter ⚠
p.Pro400Leu Single submitter ⚠
p.Ser27Arg Single submitter ⚠
p.Ser289Phe Single submitter ⚠
p.Ser399Thr Single submitter ⚠
p.Ser69Ala Single submitter ⚠
p.Thr394Met Single submitter ⚠
p.Thr650Asn Single submitter ⚠
p.Thr655Ala Single submitter ⚠
p.Thr655Met Single submitter ⚠
p.Tyr169Asp Single submitter ⚠
p.Tyr169Cys Single submitter ⚠
p.Tyr362Cys Single submitter ⚠
p.Tyr377Cys Single submitter ⚠
p.Tyr503Cys Single submitter ⚠
p.Val193Gly Single submitter ⚠
p.Val295Leu Single submitter ⚠
p.Val98Met Single submitter ⚠