NAA40 — 27 ClinVar variants
All ClinVar germline NAA40 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
27 Uncertain significance
Full NAA40 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NAA40 p.Ala106Val Uncertain significance Single submitter
- NAA40 p.Ala228Thr Uncertain significance Single submitter
- NAA40 p.Ala31Thr Uncertain significance Single submitter
- NAA40 p.Ala32Pro Uncertain significance Single submitter
- NAA40 p.Ala68Val Uncertain significance Single submitter
- NAA40 p.Arg147Trp Uncertain significance Single submitter
- NAA40 p.Arg148Trp Uncertain significance Single submitter
- NAA40 p.Arg95Gln Uncertain significance Single submitter
- NAA40 p.Cys209Ser Uncertain significance Single submitter
- NAA40 p.Cys232Ser Uncertain significance Single submitter
- NAA40 p.Glu89Lys Uncertain significance Single submitter
- NAA40 p.Gly64Glu Uncertain significance Single submitter
- NAA40 p.His123Tyr Uncertain significance Single submitter
- NAA40 p.His227Gln Uncertain significance Single submitter
- NAA40 p.Ile194Val Uncertain significance Single submitter
- NAA40 p.Lys11Arg Uncertain significance Single submitter
- NAA40 p.Lys219Arg Uncertain significance Single submitter
- NAA40 p.Met162Val Uncertain significance Single submitter
- NAA40 p.Phe185Leu Uncertain significance Single submitter
- NAA40 p.Pro43Leu Uncertain significance Single submitter
- NAA40 p.Ser115Thr Uncertain significance Single submitter
- NAA40 p.Ser144Gly Uncertain significance Single submitter
- NAA40 p.Tyr138Cys Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All NAA40 variants
Uncertain significance 27
- p.Ala106Val Single submitter ⚠
- p.Ala228Thr Single submitter ⚠
- p.Ala31Thr Single submitter ⚠
- p.Ala32Pro Single submitter ⚠
- p.Ala68Val Single submitter ⚠
- p.Arg147Trp Single submitter ⚠
- p.Arg148Trp Single submitter ⚠
- p.Arg61Gly Single submitter ⚠
- p.Arg95Gln Single submitter ⚠
- p.Cys209Ser Single submitter ⚠
- p.Cys232Ser Single submitter ⚠
- p.Glu89Lys Single submitter ⚠
- p.Gly64Glu Single submitter ⚠
- p.His123Tyr Single submitter ⚠
- p.His227Gln Single submitter ⚠
- p.Ile194Val Single submitter ⚠
- p.Lys11Arg Single submitter ⚠
- p.Lys219Arg Single submitter ⚠
- p.Lys9Glu Single submitter ⚠
- p.Met162Val Single submitter ⚠
- p.Met84Val Single submitter ⚠
- p.Phe185Leu Single submitter ⚠
- p.Pro43Leu Single submitter ⚠
- p.Ser115Thr Single submitter ⚠
- p.Ser144Gly Single submitter ⚠
- p.Ser202Tyr Single submitter
- p.Tyr138Cys Single submitter ⚠