NEK2 — 277 ClinVar variants
All ClinVar germline NEK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →
4 Likely pathogenic · 7 Conflicting · 7 Benign · 6 Benign/Likely benign · 76 Likely benign · 177 Uncertain significance
Full NEK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 141
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.
-
NEK2 p.Asp343Asn
Likely pathogenic
Single submitter
inherited retinal dystrophy
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- NEK2 p.Asp273Gly Conflicting Single submitter
-
NEK2 p.Gly134Asp
Conflicting
Single submitter
inherited retinal dystrophy
-
NEK2 p.Val137Ile
Conflicting
Single submitter
inherited retinal dystrophy
Predictors lean, ClinVar uncertain 107
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NEK2 p.Arg130Gly Uncertain significance Multiple submitters
- NEK2 p.Arg140Gln Uncertain significance Multiple submitters
- NEK2 p.Arg239His Uncertain significance Multiple submitters
- NEK2 p.Arg318Gln Uncertain significance Multiple submitters
- NEK2 p.Arg77Trp Uncertain significance Multiple submitters
- NEK2 p.Asn57Ser Uncertain significance Multiple submitters
-
NEK2 p.Asp242Ala
Uncertain significance
Multiple submitters
retinitis pigmentosa 67
- NEK2 p.Asp273Asn Uncertain significance Multiple submitters
- NEK2 p.Asp277Glu Uncertain significance Multiple submitters
- NEK2 p.Asp298Tyr Uncertain significance Multiple submitters
- NEK2 p.Gln440His Uncertain significance Multiple submitters
- NEK2 p.Glu278Lys Uncertain significance Multiple submitters
- NEK2 p.Gly287Arg Uncertain significance Multiple submitters
- NEK2 p.Leu313Ile Uncertain significance Multiple submitters
- NEK2 p.Leu351Val Uncertain significance Multiple submitters
- NEK2 p.Lys152Glu Uncertain significance Multiple submitters
- NEK2 p.Ser96Gly Uncertain significance Multiple submitters
- NEK2 p.Thr249Met Uncertain significance Multiple submitters
- NEK2 p.Val116Met Uncertain significance Multiple submitters
- NEK2 p.Ala225Thr Uncertain significance Single submitter
- NEK2 p.Ala426Thr Uncertain significance Single submitter
-
NEK2 p.Arg115Pro
Uncertain significance
Single submitter
inherited retinal dystrophy
- NEK2 p.Arg140Trp Uncertain significance Single submitter
- NEK2 p.Arg190Cys Uncertain significance Single submitter
- NEK2 p.Arg235Gln Uncertain significance Single submitter
- NEK2 p.Arg239Cys Uncertain significance Single submitter
- NEK2 p.Arg281Gly Uncertain significance Single submitter
- NEK2 p.Arg281Ile Uncertain significance Single submitter
- NEK2 p.Arg347Thr Uncertain significance Single submitter
- NEK2 p.Arg361Gln Uncertain significance Single submitter
- NEK2 p.Arg423Gln Uncertain significance Single submitter
- NEK2 p.Arg60Cys Uncertain significance Single submitter
- NEK2 p.Asn194Asp Uncertain significance Single submitter
- NEK2 p.Asn282Ser Uncertain significance Single submitter
- NEK2 p.Asp132Val Uncertain significance Single submitter
- NEK2 p.Asp141Asn Uncertain significance Single submitter
- NEK2 p.Asp198Asn Uncertain significance Single submitter
- NEK2 p.Asp273Tyr Uncertain significance Single submitter
- NEK2 p.Asp412Asn Uncertain significance Single submitter
- NEK2 p.Cys204Arg Uncertain significance Single submitter
- NEK2 p.Cys89Tyr Uncertain significance Single submitter
- NEK2 p.Gln119Arg Uncertain significance Single submitter
- NEK2 p.Gln435His Uncertain significance Single submitter
- NEK2 p.Gln440Lys Uncertain significance Single submitter
- NEK2 p.Glu267Lys Uncertain significance Single submitter
- NEK2 p.Glu90Asp Uncertain significance Single submitter
- NEK2 p.Gly178Ser Uncertain significance Single submitter
- NEK2 p.Gly231Asp Uncertain significance Single submitter
- NEK2 p.His135Gln Uncertain significance Single submitter
- NEK2 p.His135Tyr Uncertain significance Single submitter
- NEK2 p.His64Leu Uncertain significance Single submitter
- NEK2 p.Ile228Met Uncertain significance Single submitter
- NEK2 p.Ile271Val Uncertain significance Single submitter
- NEK2 p.Ile311Asn Uncertain significance Single submitter
- NEK2 p.Ile430Val Uncertain significance Single submitter
- NEK2 p.Ile74Val Uncertain significance Single submitter
- NEK2 p.Ile75Thr Uncertain significance Single submitter
- NEK2 p.Leu138Ser Uncertain significance Single submitter
- NEK2 p.Leu157Val Uncertain significance Single submitter
-
NEK2 p.Leu206Gln
Uncertain significance
Single submitter
inherited retinal dystrophy
- NEK2 p.Leu303Phe Uncertain significance Single submitter
- NEK2 p.Leu373Arg Uncertain significance Single submitter
- NEK2 p.Leu373Phe Uncertain significance Single submitter
- NEK2 p.Leu39Arg Uncertain significance Single submitter
- NEK2 p.Lys362Thr Uncertain significance Single submitter
- NEK2 p.Lys381Asn Uncertain significance Single submitter
- NEK2 p.Lys381Glu Uncertain significance Single submitter
- NEK2 p.Lys409Arg Uncertain significance Single submitter
- NEK2 p.Lys49Gln Uncertain significance Single submitter
- NEK2 p.Met191Thr Uncertain significance Single submitter
- NEK2 p.Met213Thr Uncertain significance Single submitter
- NEK2 p.Met395Thr Uncertain significance Single submitter
- NEK2 p.Met444Ile Uncertain significance Single submitter
- NEK2 p.Met444Val Uncertain significance Single submitter
- NEK2 p.Met86Thr Uncertain significance Single submitter
- NEK2 p.Pro185Ser Uncertain significance Single submitter
- NEK2 p.Pro214Leu Uncertain significance Single submitter
- NEK2 p.Pro260Ser Uncertain significance Single submitter
- NEK2 p.Pro293Thr Uncertain significance Single submitter
- NEK2 p.Pro301Ser Uncertain significance Single submitter
- NEK2 p.Pro370Leu Uncertain significance Single submitter
- NEK2 p.Pro376Leu Uncertain significance Single submitter
- NEK2 p.Ser220Thr Uncertain significance Single submitter
- NEK2 p.Ser296Pro Uncertain significance Single submitter
- NEK2 p.Ser356Asn Uncertain significance Single submitter
- NEK2 p.Ser387Asn Uncertain significance Single submitter
- NEK2 p.Ser400Cys Uncertain significance Single submitter
- NEK2 p.Ser402Asn Uncertain significance Single submitter
- NEK2 p.Ser408Tyr Uncertain significance Single submitter
- NEK2 p.Ser43Phe Uncertain significance Single submitter
- NEK2 p.Thr121Ala Uncertain significance Single submitter
- NEK2 p.Thr175Ile Uncertain significance Single submitter
- NEK2 p.Thr249Lys Uncertain significance Single submitter
- NEK2 p.Thr405Ile Uncertain significance Single submitter
- NEK2 p.Thr45Ser Uncertain significance Single submitter
- NEK2 p.Thr78Ser Uncertain significance Single submitter
- NEK2 p.Tyr181Cys Uncertain significance Single submitter
- NEK2 p.Tyr181Ser Uncertain significance Single submitter
- NEK2 p.Tyr182Cys Uncertain significance Single submitter
- NEK2 p.Tyr182His Uncertain significance Single submitter
- NEK2 p.Tyr41Cys Uncertain significance Single submitter
- NEK2 p.Tyr434His Uncertain significance Single submitter
- NEK2 p.Val113Ile Uncertain significance Single submitter
- NEK2 p.Val155Ile Uncertain significance Single submitter
- NEK2 p.Val379Leu Uncertain significance Single submitter
- NEK2 p.Val97Leu Uncertain significance Single submitter
-
NEK2 p.Ile165Leu
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 30
The independent predictors disagree with each other — read with care.
- NEK2 p.Arg239Ser Uncertain significance Multiple submitters
-
NEK2 p.Arg337His
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- NEK2 p.Arg445Cys Uncertain significance Multiple submitters
- NEK2 p.Gln187His Uncertain significance Multiple submitters
- NEK2 p.His139Arg Uncertain significance Multiple submitters
- NEK2 p.Thr170Met Uncertain significance Multiple submitters
- NEK2 p.Tyr71Cys Uncertain significance Multiple submitters
- NEK2 p.Ala424Pro Uncertain significance Single submitter
-
NEK2 p.Arg337Pro
Likely pathogenic
Single submitter
inherited retinal dystrophy
- NEK2 p.Arg347Gly Uncertain significance Single submitter
- NEK2 p.Arg361Trp Uncertain significance Single submitter
- NEK2 p.Arg69Ser Uncertain significance Single submitter
- NEK2 p.Asp256Val Uncertain significance Single submitter
- NEK2 p.Glu126Lys Uncertain significance Single submitter
- NEK2 p.Glu126Val Uncertain significance Single submitter
- NEK2 p.Glu263Lys Uncertain significance Single submitter
- NEK2 p.Glu90Lys Uncertain significance Single submitter
- NEK2 p.Ile75Leu Uncertain significance Single submitter
- NEK2 p.Leu142Met Uncertain significance Single submitter
- NEK2 p.Leu62Arg Uncertain significance Single submitter
- NEK2 p.Met183Ile Uncertain significance Single submitter
- NEK2 p.Met51Ile Uncertain significance Single submitter
- NEK2 p.Phe176Leu Uncertain significance Single submitter
- NEK2 p.Phe233Leu Uncertain significance Single submitter
- NEK2 p.Pro269Thr Uncertain significance Single submitter
- NEK2 p.Ser220Arg Uncertain significance Single submitter
- NEK2 p.Thr121Asn Uncertain significance Single submitter
- NEK2 p.Val275Ala Uncertain significance Single submitter
- NEK2 p.Val35Ile Uncertain significance Single submitter
-
NEK2 p.Val68Ile
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All NEK2 variants
Likely pathogenic 4
- p.Ala424fs Single submitter inherited retinal dystrophy
- p.Arg337Pro Single submitter inherited retinal dystrophy ⚠
- p.Asp343Asn Single submitter inherited retinal dystrophy ⚠
- p.Glu208fs Single submitter inherited retinal dystrophy
Conflicting classifications of pathogenicity 7
- c.639-6C>T Single submitter
- p.Asn268fs Single submitter retinitis pigmentosa 67
- p.Asp273Gly Single submitter ⚠
- p.Asp277= Single submitter inherited retinal dystrophy
- p.Gly134Asp Single submitter inherited retinal dystrophy ⚠
- p.Gly178= Single submitter inherited retinal dystrophy
- p.Val137Ile Single submitter inherited retinal dystrophy ⚠
Benign 7
- c.638+9G>C Multiple submitters
- c.765+14G>T Multiple submitters
- p.Arg439= Multiple submitters inherited retinal dystrophy
- p.Asn354Ser Multiple submitters inherited retinal dystrophy
- p.His168= Multiple submitters retinitis pigmentosa 67
- p.Thr102= Multiple submitters
- c.985+17dup Single submitter
Benign/Likely benign 6
- c.986-10C>A Multiple submitters
- p.Ala419= Multiple submitters
- p.Arg288Gln Multiple submitters retinitis pigmentosa 67
- p.Asn189Ser Multiple submitters
- p.Ser296= Multiple submitters
- p.Val35= Multiple submitters
Likely benign 76
- c.1112-10C>T Multiple submitters
- c.556-20T>C Multiple submitters
- c.765+16T>C Multiple submitters
- c.985+20A>G Multiple submitters
- c.986-15A>G Multiple submitters
- p.Arg190His Multiple submitters
- p.Arg347= Multiple submitters inherited retinal dystrophy
- p.Asn253= Multiple submitters
- p.Gln289= Multiple submitters
- p.Glu284= Multiple submitters
- p.His418= Multiple submitters
- p.Leu224= Multiple submitters
- p.Leu340= Multiple submitters
- p.Ser131= Multiple submitters
- p.Ser197= Multiple submitters
- p.Thr136= Multiple submitters
- p.Thr170= Multiple submitters
- p.Thr99= Multiple submitters
- c.1111+52T>C Single submitter
- c.1112-17T>C Single submitter
- c.1112-18T>C Single submitter
- c.1112-7del Single submitter
- c.314+11T>G Single submitter
- c.315-16dup Single submitter
- c.638+9G>A Single submitter
- c.639-19del Single submitter
- c.639-24CTT[3] Single submitter
- c.765+20A>G Single submitter
- c.765+8T>C Single submitter
- c.765+8T>G Single submitter
- c.766-17G>C Single submitter
- c.766-7T>C Single submitter
- c.985+11A>C Single submitter
- c.*20G>A Single submitter
- p.Ala145= Single submitter
- p.Arg280= Single submitter
- p.Arg326= Single submitter
- p.Arg73= Single submitter
- p.Asn194= Single submitter
- p.Asn245= Single submitter
- p.Asn393= Single submitter
- p.Asp169= Single submitter
- p.Asp256= Single submitter
- p.Asp412= Single submitter
- p.Cys210= Single submitter
- p.Cys22= Single submitter
- p.Gln332= Single submitter
- p.Gln435= Single submitter
- p.Glu325= Single submitter
- p.Glu371= Single submitter
- p.Glu87= Single submitter
- p.Gly158= Single submitter
- p.Gly161= Single submitter
- p.Gly443= Single submitter
- p.Gly91= Single submitter
- p.Ile67= Single submitter
- p.Leu202= Single submitter
- p.Leu290= Single submitter
- p.Leu303= Single submitter
- p.Leu313= Single submitter
- p.Leu352= Single submitter
- p.Leu373= Single submitter
- p.Leu82= Single submitter
- p.Leu94= Single submitter
- p.Lys295= Single submitter
- p.Lys321= Single submitter
- p.Lys330= Single submitter
- p.Lys409= Single submitter
- p.Lys411= Single submitter
- p.Phe148= Single submitter
- p.Pro237= Single submitter
- p.Pro269= Single submitter
- p.Ser299= Single submitter
- p.Ser400= Single submitter
- p.Thr249= Single submitter
- p.Ter389= No assertion criteria NEK2-related disorder
Uncertain significance 177
- c.97-2A>G Multiple submitters retinitis pigmentosa 67
- p.Arg130Gln Multiple submitters
- p.Arg130Gly Multiple submitters ⚠
- p.Arg140Gln Multiple submitters ⚠
- p.Arg239His Multiple submitters ⚠
- p.Arg239Ser Multiple submitters ⚠
- p.Arg281del Multiple submitters
- p.Arg318Gln Multiple submitters ⚠
- p.Arg318Ter Multiple submitters
- p.Arg337Cys Multiple submitters
- p.Arg337His Multiple submitters inherited retinal dystrophy ⚠
- p.Arg445Cys Multiple submitters ⚠
- p.Arg77Trp Multiple submitters ⚠
- p.Asn57Ser Multiple submitters ⚠
- p.Asp242Ala Multiple submitters retinitis pigmentosa 67 ⚠
- p.Asp273Asn Multiple submitters ⚠
- p.Asp277Glu Multiple submitters ⚠
- p.Asp298Tyr Multiple submitters ⚠
- p.Gln187His Multiple submitters ⚠
- p.Gln440His Multiple submitters ⚠
- p.Glu278Lys Multiple submitters ⚠
- p.Gly287Arg Multiple submitters ⚠
- p.His139Arg Multiple submitters ⚠
- p.Leu313Ile Multiple submitters ⚠
- p.Leu351Val Multiple submitters ⚠
- p.Leu436Pro Multiple submitters inherited retinal dystrophy
- p.Lys152Glu Multiple submitters ⚠
- p.Ser96Gly Multiple submitters ⚠
- p.Thr170Met Multiple submitters ⚠
- p.Thr249Met Multiple submitters ⚠
- p.Tyr71Cys Multiple submitters ⚠
- p.Val116Met Multiple submitters ⚠
- c.1111+44A>C Single submitter
- c.1112-2del Single submitter
- c.1112-6C>G Single submitter
- c.314+5G>A Single submitter
- c.315-3T>C Single submitter
- c.638+1G>A Single submitter
- c.765+10A>G Single submitter
- c.985+14G>C Single submitter
- c.985+1G>A Single submitter
- p.Ala225Thr Single submitter ⚠
- p.Ala424Pro Single submitter ⚠
- p.Ala426fs Single submitter
- p.Ala426Thr Single submitter ⚠
- p.Arg115Pro Single submitter inherited retinal dystrophy ⚠
- p.Arg130Ter Single submitter
- p.Arg140Trp Single submitter ⚠
- p.Arg190Cys Single submitter ⚠
- p.Arg235Gln Single submitter ⚠
- p.Arg235Ter Single submitter
- p.Arg239Cys Single submitter ⚠
- p.Arg259Ter Single submitter inherited retinal dystrophy
- p.Arg281Gly Single submitter ⚠
- p.Arg281Ile Single submitter ⚠
- p.Arg288Ter Single submitter
- p.Arg337fs Single submitter
- p.Arg339Ter Single submitter
- p.Arg347Gly Single submitter ⚠
- p.Arg347Thr Single submitter ⚠
- p.Arg361Gln Single submitter ⚠
- p.Arg361Trp Single submitter ⚠
- p.Arg423Gln Single submitter ⚠
- p.Arg423Trp Single submitter
- p.Arg439Gly Single submitter
- p.Arg60Cys Single submitter ⚠
- p.Arg69Ser Single submitter ⚠
- p.Asn194Asp Single submitter ⚠
- p.Asn282Ser Single submitter ⚠
- p.Asp132Val Single submitter ⚠
- p.Asp141Asn Single submitter ⚠
- p.Asp169Asn Single submitter
- p.Asp198Asn Single submitter ⚠
- p.Asp256Val Single submitter ⚠
- p.Asp273Tyr Single submitter ⚠
- p.Asp412Asn Single submitter ⚠
- p.Cys204Arg Single submitter ⚠
- p.Cys89Tyr Single submitter ⚠
- p.Gln119Arg Single submitter ⚠
- p.Gln221fs Single submitter
- p.Gln329Ter Single submitter
- p.Gln425Ter Single submitter
- p.Gln435His Single submitter ⚠
- p.Gln440Lys Single submitter ⚠
- p.Glu126Lys Single submitter ⚠
- p.Glu126Val Single submitter ⚠
- p.Glu195fs Single submitter
- p.Glu223Gly Single submitter
- p.Glu263Lys Single submitter ⚠
- p.Glu267Lys Single submitter ⚠
- p.Glu371fs Single submitter
- p.Glu90Asp Single submitter ⚠
- p.Glu90Lys Single submitter ⚠
- p.Gly178Ser Single submitter ⚠
- p.Gly231Asp Single submitter ⚠
- p.His135Gln Single submitter ⚠
- p.His135Tyr Single submitter ⚠
- p.His64Leu Single submitter ⚠
- p.Ile228Met Single submitter ⚠
- p.Ile271Val Single submitter ⚠
- p.Ile311Asn Single submitter ⚠
- p.Ile430Val Single submitter ⚠
- p.Ile74Val Single submitter ⚠
- p.Ile75Leu Single submitter ⚠
- p.Ile75Thr Single submitter ⚠
- p.Leu138Ser Single submitter ⚠
- p.Leu142Met Single submitter ⚠
- p.Leu157Val Single submitter ⚠
- p.Leu206fs Single submitter retinitis pigmentosa 67
- p.Leu206Gln Single submitter inherited retinal dystrophy ⚠
- p.Leu254Ter Single submitter
- p.Leu303Phe Single submitter ⚠
- p.Leu373Arg Single submitter ⚠
- p.Leu373Phe Single submitter ⚠
- p.Leu39Arg Single submitter ⚠
- p.Leu62Arg Single submitter ⚠
- p.Lys353delinsIleCysTer Single submitter
- p.Lys362Thr Single submitter ⚠
- p.Lys381Asn Single submitter ⚠
- p.Lys381Glu Single submitter ⚠
- p.Lys409Arg Single submitter ⚠
- p.Lys49Gln Single submitter ⚠
- p.Met183Ile Single submitter ⚠
- p.Met191Thr Single submitter ⚠
- p.Met213Thr Single submitter ⚠
- p.Met395Thr Single submitter ⚠
- p.Met444Ile Single submitter ⚠
- p.Met444Val Single submitter ⚠
- p.Met51Ile Single submitter ⚠
- p.Met86Thr Single submitter ⚠
- p.Phe176Leu Single submitter ⚠
- p.Phe233Leu Single submitter ⚠
- p.Pro185Ser Single submitter ⚠
- p.Pro214Leu Single submitter ⚠
- p.Pro215= Single submitter
- p.Pro260Ser Single submitter ⚠
- p.Pro269Thr Single submitter ⚠
- p.Pro293Thr Single submitter ⚠
- p.Pro301Ser Single submitter ⚠
- p.Pro370Leu Single submitter ⚠
- p.Pro376Leu Single submitter ⚠
- p.Pro65Leu Single submitter
- p.Ser220Arg Single submitter ⚠
- p.Ser220Thr Single submitter ⚠
- p.Ser296Pro Single submitter ⚠
- p.Ser356Asn Single submitter ⚠
- p.Ser387Asn Single submitter ⚠
- p.Ser400Cys Single submitter ⚠
- p.Ser402Asn Single submitter ⚠
- p.Ser408Tyr Single submitter ⚠
- p.Ser43Phe Single submitter ⚠
- p.Thr121Ala Single submitter ⚠
- p.Thr121Asn Single submitter ⚠
- p.Thr170Arg Single submitter
- p.Thr170Lys Single submitter
- p.Thr175Ile Single submitter ⚠
- p.Thr249Lys Single submitter ⚠
- p.Thr405Ile Single submitter ⚠
- p.Thr45Ser Single submitter ⚠
- p.Thr78Ser Single submitter ⚠
- p.Tyr181Cys Single submitter ⚠
- p.Tyr181Ser Single submitter ⚠
- p.Tyr182Cys Single submitter ⚠
- p.Tyr182His Single submitter ⚠
- p.Tyr240Ter Single submitter
- p.Tyr41Cys Single submitter ⚠
- p.Tyr41fs Single submitter
- p.Tyr434Asp Single submitter
- p.Tyr434His Single submitter ⚠
- p.Val113Ile Single submitter ⚠
- p.Val155Ile Single submitter ⚠
- p.Val275Ala Single submitter ⚠
- p.Val35Ile Single submitter ⚠
- p.Val379Leu Single submitter ⚠
- p.Val97Leu Single submitter ⚠
- p.Ile165Leu No assertion criteria inherited retinal dystrophy ⚠
- p.Val68Ile No assertion criteria inherited retinal dystrophy ⚠