NAE1 — 74 ClinVar variants
All ClinVar germline NAE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
3 Pathogenic · 1 Conflicting · 5 Likely benign · 65 Uncertain significance
Full NAE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NAE1 p.Glu481Lys
Conflicting
Single submitter
neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
Predictors lean, ClinVar uncertain 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NAE1 p.Ala308Val Uncertain significance Single submitter
- NAE1 p.Ala355Asp Uncertain significance Single submitter
- NAE1 p.Ala356Thr Uncertain significance Single submitter
- NAE1 p.Ala371Thr Uncertain significance Single submitter
- NAE1 p.Ala399Pro Uncertain significance Single submitter
- NAE1 p.Arg293Cys Uncertain significance Single submitter
- NAE1 p.Arg434Thr Uncertain significance Single submitter
- NAE1 p.Arg484Gln Uncertain significance Single submitter
-
NAE1 p.Arg85Gln
Uncertain significance
Single submitter
neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
- NAE1 p.Asn115Ser Uncertain significance Single submitter
- NAE1 p.Asn290Thr Uncertain significance Single submitter
- NAE1 p.Asn517His Uncertain significance Single submitter
- NAE1 p.Asp116Glu Uncertain significance Single submitter
- NAE1 p.Asp177Gly Uncertain significance Single submitter
- NAE1 p.Cys153Tyr Uncertain significance Single submitter
- NAE1 p.Gln11Arg Uncertain significance Single submitter
- NAE1 p.Gln280Glu Uncertain significance Single submitter
- NAE1 p.Gln512Lys Uncertain significance Single submitter
- NAE1 p.Glu228Lys Uncertain significance Single submitter
- NAE1 p.Gly5Arg Uncertain significance Single submitter
- NAE1 p.Ile288Thr Uncertain significance Single submitter
- NAE1 p.Ile329Val Uncertain significance Single submitter
- NAE1 p.Ile454Thr Uncertain significance Single submitter
- NAE1 p.Leu113Val Uncertain significance Single submitter
- NAE1 p.Leu4Arg Uncertain significance Single submitter
- NAE1 p.Lys187Arg Uncertain significance Single submitter
- NAE1 p.Lys270Arg Uncertain significance Single submitter
- NAE1 p.Met162Val Uncertain significance Single submitter
- NAE1 p.Met204Thr Uncertain significance Single submitter
- NAE1 p.Met332Val Uncertain significance Single submitter
- NAE1 p.Phe464Val Uncertain significance Single submitter
- NAE1 p.Phe532Ser Uncertain significance Single submitter
- NAE1 p.Phe92Leu Uncertain significance Single submitter
- NAE1 p.Pro132Ala Uncertain significance Single submitter
- NAE1 p.Pro234Ser Uncertain significance Single submitter
- NAE1 p.Pro302Thr Uncertain significance Single submitter
- NAE1 p.Pro330Leu Uncertain significance Single submitter
- NAE1 p.Pro372Ser Uncertain significance Single submitter
- NAE1 p.Ser284Asn Uncertain significance Single submitter
- NAE1 p.Thr462Asn Uncertain significance Single submitter
- NAE1 p.Tyr199Cys Uncertain significance Single submitter
- NAE1 p.Tyr237Asp Uncertain significance Single submitter
- NAE1 p.Tyr478His Uncertain significance Single submitter
- NAE1 p.Val125Ala Uncertain significance Single submitter
- NAE1 p.Val325Ile Uncertain significance Single submitter
- NAE1 p.Val393Leu Uncertain significance Single submitter
- NAE1 p.Val445Leu Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- NAE1 p.Ala88Val Uncertain significance Single submitter
- NAE1 p.Arg326Gly Uncertain significance Single submitter
- NAE1 p.Arg347His Uncertain significance Single submitter
- NAE1 p.Cys483Ser Uncertain significance Single submitter
- NAE1 p.His211Arg Uncertain significance Single submitter
- NAE1 p.Ile375Phe Uncertain significance Single submitter
- NAE1 p.Ile60Thr Uncertain significance Single submitter
- NAE1 p.Lys312Asn Uncertain significance Single submitter
- NAE1 p.Met204Ile Uncertain significance Single submitter
- NAE1 p.Phe120Leu Uncertain significance Single submitter
- NAE1 p.Thr406Ile Uncertain significance Single submitter
- NAE1 p.Thr510Ser Uncertain significance Single submitter
-
NAE1 p.Tyr485Cys
Uncertain significance
Single submitter
neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
- NAE1 p.Val392Leu Uncertain significance Single submitter
All NAE1 variants
Pathogenic 3
- p.Arg430Gln No assertion criteria neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
- p.Cys294Trp No assertion criteria neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
- p.Leu49Phe No assertion criteria neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
Conflicting classifications of pathogenicity 1
- p.Glu481Lys Single submitter neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia ⚠
Likely benign 5
- p.Leu113= Single submitter
- p.Leu8= Single submitter
- p.Lys409= Single submitter
- p.Ser98Asn Single submitter
- p.Val125Ile Single submitter
Uncertain significance 65
- c.840+4A>G Single submitter
- p.Ala308Val Single submitter ⚠
- p.Ala355Asp Single submitter ⚠
- p.Ala356Thr Single submitter ⚠
- p.Ala371Thr Single submitter ⚠
- p.Ala399Pro Single submitter ⚠
- p.Ala88Val Single submitter ⚠
- p.Arg184Gln Single submitter
- p.Arg293Cys Single submitter ⚠
- p.Arg326Gly Single submitter ⚠
- p.Arg347His Single submitter ⚠
- p.Arg434Thr Single submitter ⚠
- p.Arg484Gln Single submitter ⚠
- p.Arg85Gln Single submitter neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia ⚠
- p.Asn115Ser Single submitter ⚠
- p.Asn290Thr Single submitter ⚠
- p.Asn517His Single submitter ⚠
- p.Asp116Glu Single submitter ⚠
- p.Asp177Gly Single submitter ⚠
- p.Cys153Tyr Single submitter ⚠
- p.Cys483Ser Single submitter ⚠
- p.Gln11Arg Single submitter ⚠
- p.Gln280Glu Single submitter ⚠
- p.Gln512Lys Single submitter ⚠
- p.Glu228Lys Single submitter ⚠
- p.Glu467Lys Single submitter
- p.Gly5Arg Single submitter ⚠
- p.Gly82Ser Single submitter
- p.His211Arg Single submitter ⚠
- p.Ile288Thr Single submitter ⚠
- p.Ile329Val Single submitter ⚠
- p.Ile375Phe Single submitter ⚠
- p.Ile454Thr Single submitter ⚠
- p.Ile60Thr Single submitter ⚠
- p.Leu113Val Single submitter ⚠
- p.Leu4Arg Single submitter ⚠
- p.Lys187Arg Single submitter ⚠
- p.Lys270Arg Single submitter ⚠
- p.Lys312Asn Single submitter ⚠
- p.Met162Val Single submitter ⚠
- p.Met204Ile Single submitter ⚠
- p.Met204Thr Single submitter ⚠
- p.Met332Val Single submitter ⚠
- p.Phe120Leu Single submitter ⚠
- p.Phe464Val Single submitter ⚠
- p.Phe532Ser Single submitter ⚠
- p.Phe92Leu Single submitter ⚠
- p.Pro132Ala Single submitter ⚠
- p.Pro234Ser Single submitter ⚠
- p.Pro302Thr Single submitter ⚠
- p.Pro330Leu Single submitter ⚠
- p.Pro372Ser Single submitter ⚠
- p.Ser284Asn Single submitter ⚠
- p.Thr406Ile Single submitter ⚠
- p.Thr462Asn Single submitter ⚠
- p.Thr510Ser Single submitter ⚠
- p.Tyr199Cys Single submitter ⚠
- p.Tyr237Asp Single submitter ⚠
- p.Tyr478His Single submitter ⚠
- p.Tyr485Cys Single submitter neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia ⚠
- p.Val125Ala Single submitter ⚠
- p.Val325Ile Single submitter ⚠
- p.Val392Leu Single submitter ⚠
- p.Val393Leu Single submitter ⚠
- p.Val445Leu Single submitter ⚠