NAT1 — 46 ClinVar variants
All ClinVar germline NAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
2 Benign · 8 Likely benign · 36 Uncertain significance
Full NAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NAT1 p.Arg127Cys Uncertain significance Single submitter
- NAT1 p.Arg127His Uncertain significance Single submitter
- NAT1 p.Asn272Ser Uncertain significance Single submitter
- NAT1 p.Asn39Lys Uncertain significance Single submitter
- NAT1 p.Asp179Asn Uncertain significance Single submitter
- NAT1 p.Cys223Tyr Uncertain significance Single submitter
- NAT1 p.Gln168His Uncertain significance Single submitter
- NAT1 p.Glu203Asp Uncertain significance Single submitter
- NAT1 p.Glu262Gln Uncertain significance Single submitter
- NAT1 p.His283Arg Uncertain significance Single submitter
- NAT1 p.His30Asn Uncertain significance Single submitter
- NAT1 p.Ile120Thr Uncertain significance Single submitter
- NAT1 p.Ile270Met Uncertain significance Single submitter
- NAT1 p.Ile270Val Uncertain significance Single submitter
- NAT1 p.Lys278Arg Uncertain significance Single submitter
- NAT1 p.Met131Leu Uncertain significance Single submitter
- NAT1 p.Phe287Val Uncertain significance Single submitter
- NAT1 p.Pro171Gln Uncertain significance Single submitter
- NAT1 p.Pro171Leu Uncertain significance Single submitter
- NAT1 p.Thr257Ala Uncertain significance Single submitter
- NAT1 p.Thr289Ala Uncertain significance Single submitter
- NAT1 p.Thr289Ser Uncertain significance Single submitter
- NAT1 p.Thr80Ala Uncertain significance Single submitter
- NAT1 p.Thr86Ala Uncertain significance Single submitter
- NAT1 p.Tyr129Phe Uncertain significance Single submitter
- NAT1 p.Tyr169Asn Uncertain significance Single submitter
- NAT1 p.Val266Met Uncertain significance Single submitter
- NAT1 p.Val60Leu Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- NAT1 p.Arg197Gly Uncertain significance Single submitter
- NAT1 p.Arg64Trp Benign Single submitter
- NAT1 p.Asp142Tyr Uncertain significance Single submitter
- NAT1 p.Glu136Asp Uncertain significance Single submitter
- NAT1 p.Ile120Asn Uncertain significance Single submitter
- NAT1 p.Ile82Asn Uncertain significance Single submitter
- NAT1 p.Tyr12Ser Uncertain significance Single submitter
- NAT1 p.Tyr190Cys Uncertain significance Single submitter
- NAT1 p.Val93Leu Uncertain significance Single submitter
All NAT1 variants
Benign 2
- p.Val149Ile Multiple submitters
- p.Arg64Trp Single submitter ⚠
Likely benign 8
- c.-85-20G>A Single submitter
- c.-85-2491G>A Single submitter
- p.Arg242= Single submitter
- p.Ile106= Single submitter
- p.Ile3= Single submitter
- p.Leu89= Single submitter
- p.Lys195= Single submitter
- p.Met105Ile Single submitter
Uncertain significance 36
- p.Arg127Cys Single submitter ⚠
- p.Arg127His Single submitter ⚠
- p.Arg197Gly Single submitter ⚠
- p.Asn272Ser Single submitter ⚠
- p.Asn39Lys Single submitter ⚠
- p.Asp142Tyr Single submitter ⚠
- p.Asp179Asn Single submitter ⚠
- p.Cys223Tyr Single submitter ⚠
- p.Gln168His Single submitter ⚠
- p.Glu136Asp Single submitter ⚠
- p.Glu203Asp Single submitter ⚠
- p.Glu262Gln Single submitter ⚠
- p.His283Arg Single submitter ⚠
- p.His30Asn Single submitter ⚠
- p.Ile120Asn Single submitter ⚠
- p.Ile120Thr Single submitter ⚠
- p.Ile270Met Single submitter ⚠
- p.Ile270Val Single submitter ⚠
- p.Ile82Asn Single submitter ⚠
- p.Lys278Arg Single submitter ⚠
- p.Met131Leu Single submitter ⚠
- p.Phe287Val Single submitter ⚠
- p.Pro171Gln Single submitter ⚠
- p.Pro171Leu Single submitter ⚠
- p.Thr257Ala Single submitter ⚠
- p.Thr289Ala Single submitter ⚠
- p.Thr289Ser Single submitter ⚠
- p.Thr80Ala Single submitter ⚠
- p.Thr86Ala Single submitter ⚠
- p.Tyr129Phe Single submitter ⚠
- p.Tyr12Ser Single submitter ⚠
- p.Tyr169Asn Single submitter ⚠
- p.Tyr190Cys Single submitter ⚠
- p.Val266Met Single submitter ⚠
- p.Val60Leu Single submitter ⚠
- p.Val93Leu Single submitter ⚠