NOS2 — 202 ClinVar variants
All ClinVar germline NOS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 138 flagged for review →
19 Benign · 1 Benign/Likely benign · 40 Likely benign · 142 Uncertain significance
Full NOS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 138
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 109
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NOS2 p.Ala1044Val Uncertain significance Single submitter
- NOS2 p.Ala1142Glu Uncertain significance Single submitter
- NOS2 p.Ala168Val Uncertain significance Single submitter
- NOS2 p.Ala31Val Uncertain significance Single submitter
- NOS2 p.Ala407Thr Uncertain significance Single submitter
- NOS2 p.Ala552Val Uncertain significance Single submitter
- NOS2 p.Ala805Ser Uncertain significance Single submitter
- NOS2 p.Ala847Ser Uncertain significance Single submitter
- NOS2 p.Arg1006Pro Uncertain significance Single submitter
- NOS2 p.Arg1006Trp Uncertain significance Single submitter
- NOS2 p.Arg1009His Uncertain significance Single submitter
- NOS2 p.Arg1086His Uncertain significance Single submitter
- NOS2 p.Arg195His Uncertain significance Single submitter
- NOS2 p.Arg215His Uncertain significance Single submitter
- NOS2 p.Arg232His Uncertain significance Single submitter
- NOS2 p.Arg266Cys Uncertain significance Single submitter
- NOS2 p.Arg278Gly Uncertain significance Single submitter
- NOS2 p.Arg340Pro Uncertain significance Single submitter
- NOS2 p.Arg452Gln Uncertain significance Single submitter
- NOS2 p.Arg454Cys Uncertain significance Single submitter
- NOS2 p.Arg530Gly Uncertain significance Single submitter
- NOS2 p.Arg633Trp Uncertain significance Single submitter
- NOS2 p.Arg670His Uncertain significance Single submitter
- NOS2 p.Arg890Leu Uncertain significance Single submitter
- NOS2 p.Arg914Trp Uncertain significance Single submitter
- NOS2 p.Arg962Gln Uncertain significance Single submitter
- NOS2 p.Asn601Lys Uncertain significance Single submitter
- NOS2 p.Cys228Phe Uncertain significance Single submitter
- NOS2 p.Cys681Tyr Uncertain significance Single submitter
- NOS2 p.Cys959Arg Uncertain significance Single submitter
- NOS2 p.Gln271His Uncertain significance Single submitter
- NOS2 p.Gln716Leu Uncertain significance Single submitter
- NOS2 p.Glu1031Ala Uncertain significance Single submitter
- NOS2 p.Glu1031Lys Uncertain significance Single submitter
- NOS2 p.Glu402Ala Uncertain significance Single submitter
- NOS2 p.Glu417Gln Uncertain significance Single submitter
- NOS2 p.Glu760Asp Uncertain significance Single submitter
- NOS2 p.Glu971Asp Uncertain significance Single submitter
- NOS2 p.Gly1083Arg Uncertain significance Single submitter
- NOS2 p.Gly379Arg Uncertain significance Single submitter
- NOS2 p.Gly627Ser Uncertain significance Single submitter
- NOS2 p.His102Arg Uncertain significance Single submitter
- NOS2 p.His1039Arg Uncertain significance Single submitter
- NOS2 p.His1039Tyr Uncertain significance Single submitter
- NOS2 p.His499Asp Uncertain significance Single submitter
- NOS2 p.His772Asp Uncertain significance Single submitter
- NOS2 p.His931Leu Uncertain significance Single submitter
- NOS2 p.His941Tyr Uncertain significance Single submitter
- NOS2 p.Ile227Met Uncertain significance Single submitter
- NOS2 p.Ile265Val Uncertain significance Single submitter
- NOS2 p.Ile378Met Uncertain significance Single submitter
- NOS2 p.Ile834Val Uncertain significance Single submitter
- NOS2 p.Leu1079Phe Uncertain significance Single submitter
- NOS2 p.Leu1153Pro Uncertain significance Single submitter
- NOS2 p.Leu49Phe Uncertain significance Single submitter
- NOS2 p.Leu528Val Uncertain significance Single submitter
- NOS2 p.Leu580Pro Uncertain significance Single submitter
- NOS2 p.Leu648Gln Uncertain significance Single submitter
- NOS2 p.Lys171Met Uncertain significance Single submitter
- NOS2 p.Lys952Arg Uncertain significance Single submitter
- NOS2 p.Met1029Thr Uncertain significance Single submitter
- NOS2 p.Met1150Ile Uncertain significance Single submitter
- NOS2 p.Met630Thr Uncertain significance Single submitter
- NOS2 p.Phe1132Tyr Uncertain significance Single submitter
- NOS2 p.Pro129Leu Uncertain significance Single submitter
- NOS2 p.Pro198Ser Uncertain significance Single submitter
- NOS2 p.Pro38Arg Uncertain significance Single submitter
- NOS2 p.Pro458Leu Uncertain significance Single submitter
- NOS2 p.Pro514Leu Uncertain significance Single submitter
- NOS2 p.Pro514Thr Uncertain significance Single submitter
- NOS2 p.Pro655Leu Uncertain significance Single submitter
- NOS2 p.Pro68Ser Uncertain significance Single submitter
- NOS2 p.Pro706Leu Uncertain significance Single submitter
- NOS2 p.Pro781Leu Uncertain significance Single submitter
- NOS2 p.Pro837Ala Uncertain significance Single submitter
- NOS2 p.Pro837Thr Uncertain significance Single submitter
- NOS2 p.Pro865Ser Uncertain significance Single submitter
- NOS2 p.Ser1066Arg Uncertain significance Single submitter
- NOS2 p.Ser114Phe Uncertain significance Single submitter
- NOS2 p.Ser114Tyr Uncertain significance Single submitter
- NOS2 p.Ser118Cys Uncertain significance Single submitter
- NOS2 p.Ser124Thr Uncertain significance Single submitter
- NOS2 p.Ser425Gly Uncertain significance Single submitter
- NOS2 p.Ser562Asn Uncertain significance Single submitter
- NOS2 p.Ser80Pro Uncertain significance Single submitter
- NOS2 p.Ser80Thr Uncertain significance Single submitter
- NOS2 p.Ser815Gly Uncertain significance Single submitter
- NOS2 p.Ser965Ile Uncertain significance Single submitter
- NOS2 p.Thr1094Ile Uncertain significance Single submitter
- NOS2 p.Thr170Ile Uncertain significance Single submitter
- NOS2 p.Thr219Ile Uncertain significance Single submitter
- NOS2 p.Thr403Met Uncertain significance Single submitter
- NOS2 p.Thr498Asn Uncertain significance Single submitter
- NOS2 p.Thr63Met Uncertain significance Single submitter
- NOS2 p.Thr683Met Uncertain significance Single submitter
- NOS2 p.Thr917Met Uncertain significance Single submitter
- NOS2 p.Trp410Ser Uncertain significance Single submitter
- NOS2 p.Tyr1134His Uncertain significance Single submitter
- NOS2 p.Tyr336His Uncertain significance Single submitter
- NOS2 p.Tyr698Cys Uncertain significance Single submitter
- NOS2 p.Tyr830Ser Uncertain significance Single submitter
- NOS2 p.Val1013Ala Uncertain significance Single submitter
- NOS2 p.Val231Met Uncertain significance Single submitter
- NOS2 p.Val284Ala Uncertain significance Single submitter
- NOS2 p.Val284Met Uncertain significance Single submitter
- NOS2 p.Val415Ile Uncertain significance Single submitter
- NOS2 p.Val588Leu Uncertain significance Single submitter
- NOS2 p.Val674Met Uncertain significance Single submitter
- NOS2 p.Val732Met Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- NOS2 p.Ala1040Val Uncertain significance Single submitter
- NOS2 p.Ala521Asp Uncertain significance Single submitter
- NOS2 p.Arg1017Cys Uncertain significance Single submitter
- NOS2 p.Arg1047Cys Uncertain significance Single submitter
- NOS2 p.Arg1047His Uncertain significance Single submitter
- NOS2 p.Arg1089Trp Likely benign Single submitter
- NOS2 p.Arg340Trp Uncertain significance Single submitter
- NOS2 p.Arg452Trp Uncertain significance Single submitter
- NOS2 p.Arg740Trp Uncertain significance Single submitter
- NOS2 p.Arg750His Uncertain significance Single submitter
- NOS2 p.Asn419Ser Uncertain significance Single submitter
- NOS2 p.Cys863Phe Uncertain significance Single submitter
- NOS2 p.Gly177Glu Uncertain significance Single submitter
- NOS2 p.Gly400Asp Uncertain significance Single submitter
- NOS2 p.His1002Leu Uncertain significance Single submitter
- NOS2 p.Leu542Ile Uncertain significance Single submitter
- NOS2 p.Leu757Val Uncertain significance Single submitter
- NOS2 p.Met355Ile Uncertain significance Single submitter
- NOS2 p.Pro695Ser Uncertain significance Single submitter
- NOS2 p.Pro795Ser Uncertain significance Single submitter
- NOS2 p.Pro887Leu Uncertain significance Single submitter
- NOS2 p.Ser408Leu Uncertain significance Single submitter
- NOS2 p.Ser438Leu Uncertain significance Single submitter
- NOS2 p.Ser453Pro Uncertain significance Single submitter
- NOS2 p.Ser913Cys Uncertain significance Single submitter
- NOS2 p.Trp704Cys Uncertain significance Single submitter
- NOS2 p.Tyr1045Cys Uncertain significance Single submitter
- NOS2 p.Val259Leu Uncertain significance Single submitter
-
NOS2 p.Thr182Met
Likely benign
No assertion criteria
NOS2-related disorder
All NOS2 variants
Benign 19
- c.1005-10T>C Multiple submitters
- p.Phe319= Multiple submitters
- p.Val1110= Multiple submitters
- c.1476+46C>T Single submitter
- c.1476+51TG[10] Single submitter
- c.1477-52T>C Single submitter
- c.1704+10C>T Single submitter
- c.1859+88G>T Single submitter
- c.2428+6C>T Single submitter
- c.2428+9C>T Single submitter
- c.722+11A>G Single submitter
- c.864+22A>G Single submitter
- c.-73-10C>T Single submitter
- p.Ala1136= Single submitter
- p.Asp385= Single submitter
- p.Gly786= Single submitter
- p.Ser608Leu Single submitter
- p.Thr919= Single submitter
- p.Thr99= Single submitter
Benign/Likely benign 1
- p.Glu1111= Multiple submitters
Likely benign 40
- p.Arg1018Ser Multiple submitters
- p.Gly360= Multiple submitters
- c.1860-7C>T Single submitter
- c.196-9C>G Single submitter
- c.2429-8C>T Single submitter
- c.2888+10C>G Single submitter
- p.Ala1136Val Single submitter
- p.Ala782Val Single submitter
- p.Ala805Thr Single submitter
- p.Ala964= Single submitter
- p.Arg1086Cys Single submitter
- p.Arg1089Trp Single submitter ⚠
- p.Arg633Gln Single submitter
- p.Arg740Gln Single submitter
- p.Arg914= Single submitter
- p.Arg914Gln Single submitter
- p.Asn48Ser Single submitter
- p.Asn701Ser Single submitter
- p.Asp503= Single submitter
- p.Cys776Phe Single submitter
- p.Glu682= Single submitter
- p.Gly1077= Single submitter
- p.Gly774= Single submitter
- p.Leu100= Single submitter
- p.Leu186= Single submitter
- p.Leu542= Single submitter
- p.Leu585= Single submitter
- p.Leu626= Single submitter
- p.Lys298= Single submitter
- p.Met656Thr Single submitter
- p.Pro487= Single submitter
- p.Ser276Thr Single submitter
- p.Tyr483= Single submitter
- p.Val39= Single submitter
- p.Val484Ile Single submitter
- p.Val570Leu Single submitter
- p.Cys635= No assertion criteria NOS2-related disorder
- p.Gln1097= No assertion criteria NOS2-related disorder
- p.Thr182Met No assertion criteria NOS2-related disorder ⚠
- p.Thr245= No assertion criteria NOS2-related disorder
Uncertain significance 142
- p.Ala1040Val Single submitter ⚠
- p.Ala1044Val Single submitter ⚠
- p.Ala1142Glu Single submitter ⚠
- p.Ala168Val Single submitter ⚠
- p.Ala31Val Single submitter ⚠
- p.Ala407Thr Single submitter ⚠
- p.Ala521Asp Single submitter ⚠
- p.Ala552Val Single submitter ⚠
- p.Ala805Ser Single submitter ⚠
- p.Ala847Ser Single submitter ⚠
- p.Arg1006Pro Single submitter ⚠
- p.Arg1006Trp Single submitter ⚠
- p.Arg1009His Single submitter ⚠
- p.Arg1017Cys Single submitter ⚠
- p.Arg1047Cys Single submitter ⚠
- p.Arg1047His Single submitter ⚠
- p.Arg1086His Single submitter ⚠
- p.Arg195His Single submitter ⚠
- p.Arg215His Single submitter ⚠
- p.Arg232His Single submitter ⚠
- p.Arg258Gln Single submitter
- p.Arg266Cys Single submitter ⚠
- p.Arg278Gly Single submitter ⚠
- p.Arg340Pro Single submitter ⚠
- p.Arg340Trp Single submitter ⚠
- p.Arg452Gln Single submitter ⚠
- p.Arg452Trp Single submitter ⚠
- p.Arg454Cys Single submitter ⚠
- p.Arg530Gly Single submitter ⚠
- p.Arg633Trp Single submitter ⚠
- p.Arg670His Single submitter ⚠
- p.Arg740Trp Single submitter ⚠
- p.Arg750His Single submitter ⚠
- p.Arg890Leu Single submitter ⚠
- p.Arg914Trp Single submitter ⚠
- p.Arg962Gln Single submitter ⚠
- p.Asn419Ser Single submitter ⚠
- p.Asn601Lys Single submitter ⚠
- p.Cys228Phe Single submitter ⚠
- p.Cys681Tyr Single submitter ⚠
- p.Cys863Phe Single submitter ⚠
- p.Cys959Arg Single submitter ⚠
- p.Gln271His Single submitter ⚠
- p.Gln492Glu Single submitter
- p.Gln716Leu Single submitter ⚠
- p.Glu1031Ala Single submitter ⚠
- p.Glu1031Lys Single submitter ⚠
- p.Glu402Ala Single submitter ⚠
- p.Glu417Gln Single submitter ⚠
- p.Glu760Asp Single submitter ⚠
- p.Glu971Asp Single submitter ⚠
- p.Gly1083Arg Single submitter ⚠
- p.Gly177Glu Single submitter ⚠
- p.Gly379Arg Single submitter ⚠
- p.Gly400Asp Single submitter ⚠
- p.Gly627Ser Single submitter ⚠
- p.His1002Leu Single submitter ⚠
- p.His102Arg Single submitter ⚠
- p.His1039Arg Single submitter ⚠
- p.His1039Tyr Single submitter ⚠
- p.His1124Gln Single submitter
- p.His499Asp Single submitter ⚠
- p.His772Asp Single submitter ⚠
- p.His931Leu Single submitter ⚠
- p.His941Tyr Single submitter ⚠
- p.Ile227Met Single submitter ⚠
- p.Ile265Val Single submitter ⚠
- p.Ile378Met Single submitter ⚠
- p.Ile834Val Single submitter ⚠
- p.Leu1079Phe Single submitter ⚠
- p.Leu1153Pro Single submitter ⚠
- p.Leu49Phe Single submitter ⚠
- p.Leu528Val Single submitter ⚠
- p.Leu542Ile Single submitter ⚠
- p.Leu580Pro Single submitter ⚠
- p.Leu648Gln Single submitter ⚠
- p.Leu757Val Single submitter ⚠
- p.Lys171Met Single submitter ⚠
- p.Lys952Arg Single submitter ⚠
- p.Met1029Thr Single submitter ⚠
- p.Met1150Ile Single submitter ⚠
- p.Met355Ile Single submitter ⚠
- p.Met630Thr Single submitter ⚠
- p.Phe1132Tyr Single submitter ⚠
- p.Pro129Leu Single submitter ⚠
- p.Pro198Ser Single submitter ⚠
- p.Pro297Leu Single submitter
- p.Pro38Arg Single submitter ⚠
- p.Pro458Leu Single submitter ⚠
- p.Pro514Leu Single submitter ⚠
- p.Pro514Thr Single submitter ⚠
- p.Pro655Leu Single submitter ⚠
- p.Pro68Ser Single submitter ⚠
- p.Pro695Ser Single submitter ⚠
- p.Pro706Leu Single submitter ⚠
- p.Pro781Leu Single submitter ⚠
- p.Pro795Ser Single submitter ⚠
- p.Pro837Ala Single submitter ⚠
- p.Pro837Thr Single submitter ⚠
- p.Pro865Ser Single submitter ⚠
- p.Pro887Leu Single submitter ⚠
- p.Ser1066Arg Single submitter ⚠
- p.Ser114Phe Single submitter ⚠
- p.Ser114Tyr Single submitter ⚠
- p.Ser118Cys Single submitter ⚠
- p.Ser124Thr Single submitter ⚠
- p.Ser408Leu Single submitter ⚠
- p.Ser425Gly Single submitter ⚠
- p.Ser438Leu Single submitter ⚠
- p.Ser453Pro Single submitter ⚠
- p.Ser562Asn Single submitter ⚠
- p.Ser80Pro Single submitter ⚠
- p.Ser80Thr Single submitter ⚠
- p.Ser815Gly Single submitter ⚠
- p.Ser913Cys Single submitter ⚠
- p.Ser965Ile Single submitter ⚠
- p.Thr1094Ile Single submitter ⚠
- p.Thr170Ile Single submitter ⚠
- p.Thr219Ile Single submitter ⚠
- p.Thr403Met Single submitter ⚠
- p.Thr498Asn Single submitter ⚠
- p.Thr63Met Single submitter ⚠
- p.Thr683Met Single submitter ⚠
- p.Thr917Met Single submitter ⚠
- p.Trp410Ser Single submitter ⚠
- p.Trp704Cys Single submitter ⚠
- p.Tyr1045Cys Single submitter ⚠
- p.Tyr1134His Single submitter ⚠
- p.Tyr336His Single submitter ⚠
- p.Tyr698Cys Single submitter ⚠
- p.Tyr830Ser Single submitter ⚠
- p.Val1013Ala Single submitter ⚠
- p.Val231Met Single submitter ⚠
- p.Val259Leu Single submitter ⚠
- p.Val284Ala Single submitter ⚠
- p.Val284Met Single submitter ⚠
- p.Val415Ile Single submitter ⚠
- p.Val588Leu Single submitter ⚠
- p.Val674Met Single submitter ⚠
- p.Val732Met Single submitter ⚠
- p.Val943Leu Single submitter
- p.Leu392fs No assertion criteria malaria, susceptibility to