NAAA — 52 ClinVar variants
All ClinVar germline NAAA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
2 Benign · 7 Likely benign · 43 Uncertain significance
Full NAAA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NAAA p.Ala119Asp Uncertain significance Single submitter
- NAAA p.Asn264Lys Uncertain significance Single submitter
- NAAA p.Asp245Glu Uncertain significance Single submitter
- NAAA p.Glu121Lys Uncertain significance Single submitter
- NAAA p.Glu231Lys Uncertain significance Single submitter
- NAAA p.Glu98Lys Uncertain significance Single submitter
- NAAA p.Gly258Glu Uncertain significance Single submitter
- NAAA p.His187Gln Uncertain significance Single submitter
- NAAA p.Leu162Phe Uncertain significance Single submitter
- NAAA p.Lys359Glu Uncertain significance Single submitter
- NAAA p.Met106Val Uncertain significance Single submitter
- NAAA p.Pro241Ser Uncertain significance Single submitter
- NAAA p.Ser192Phe Uncertain significance Single submitter
- NAAA p.Ser326Pro Uncertain significance Single submitter
- NAAA p.Thr286Ile Uncertain significance Single submitter
- NAAA p.Val216Ala Uncertain significance Single submitter
- NAAA p.Val83Leu Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- NAAA p.Ala314Val Uncertain significance Single submitter
- NAAA p.Arg100His Uncertain significance Single submitter
- NAAA p.Arg196Gln Uncertain significance Single submitter
- NAAA p.Arg256Trp Uncertain significance Single submitter
- NAAA p.Arg300Gln Uncertain significance Single submitter
- NAAA p.Arg300Trp Uncertain significance Single submitter
- NAAA p.Asn117Ser Uncertain significance Single submitter
- NAAA p.Asn309Ser Uncertain significance Single submitter
- NAAA p.Asp275Glu Uncertain significance Single submitter
- NAAA p.Asp298Val Uncertain significance Single submitter
- NAAA p.Asp347Asn Uncertain significance Single submitter
- NAAA p.Gly136Ser Uncertain significance Single submitter
- NAAA p.Gly199Ala Uncertain significance Single submitter
- NAAA p.Gly199Ser Uncertain significance Single submitter
- NAAA p.His290Pro Uncertain significance Single submitter
- NAAA p.Ile271Asn Uncertain significance Single submitter
- NAAA p.Pro268Leu Uncertain significance Single submitter
- NAAA p.Pro73Ala Uncertain significance Single submitter
- NAAA p.Pro94His Uncertain significance Single submitter
- NAAA p.Ser254Cys Uncertain significance Single submitter
- NAAA p.Ser254Phe Uncertain significance Single submitter
- NAAA p.Thr240Ile Uncertain significance Single submitter
- NAAA p.Thr339Met Uncertain significance Single submitter
- NAAA p.Trp291Gly Uncertain significance Single submitter
- NAAA p.Val178Ile Uncertain significance Single submitter
- NAAA p.Val259Leu Uncertain significance Single submitter
All NAAA variants
Benign 2
- c.667-7C>T Multiple submitters
- p.Thr262= Multiple submitters
Likely benign 7
- p.Ile80= Multiple submitters
- p.Ala222Thr Single submitter
- p.Arg221= Single submitter
- p.Arg256Gln Single submitter
- p.Leu108Phe Single submitter
- p.Lys74Arg Single submitter
- p.Met350Ile Single submitter
Uncertain significance 43
- p.Ala119Asp Single submitter ⚠
- p.Ala314Val Single submitter ⚠
- p.Arg100His Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
- p.Arg256Trp Single submitter ⚠
- p.Arg300Gln Single submitter ⚠
- p.Arg300Trp Single submitter ⚠
- p.Asn117Ser Single submitter ⚠
- p.Asn264Lys Single submitter ⚠
- p.Asn309Ser Single submitter ⚠
- p.Asp245Glu Single submitter ⚠
- p.Asp275Glu Single submitter ⚠
- p.Asp298Val Single submitter ⚠
- p.Asp347Asn Single submitter ⚠
- p.Glu121Lys Single submitter ⚠
- p.Glu231Lys Single submitter ⚠
- p.Glu98Lys Single submitter ⚠
- p.Gly136Ser Single submitter ⚠
- p.Gly199Ala Single submitter ⚠
- p.Gly199Ser Single submitter ⚠
- p.Gly258Glu Single submitter ⚠
- p.His187Gln Single submitter ⚠
- p.His290Pro Single submitter ⚠
- p.Ile271Asn Single submitter ⚠
- p.Leu162Phe Single submitter ⚠
- p.Lys359Glu Single submitter ⚠
- p.Met106Val Single submitter ⚠
- p.Pro241Ser Single submitter ⚠
- p.Pro268Leu Single submitter ⚠
- p.Pro73Ala Single submitter ⚠
- p.Pro94His Single submitter ⚠
- p.Ser192Phe Single submitter ⚠
- p.Ser254Cys Single submitter ⚠
- p.Ser254Phe Single submitter ⚠
- p.Ser326Pro Single submitter ⚠
- p.Thr240Ile Single submitter ⚠
- p.Thr286Ile Single submitter ⚠
- p.Thr339Met Single submitter ⚠
- p.Trp291Gly Single submitter ⚠
- p.Val178Ile Single submitter ⚠
- p.Val216Ala Single submitter ⚠
- p.Val259Leu Single submitter ⚠
- p.Val83Leu Single submitter ⚠