NOS1 — 241 ClinVar variants
All ClinVar germline NOS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 149 flagged for review →
2 Conflicting · 23 Benign · 3 Benign/Likely benign · 49 Likely benign · 164 Uncertain significance
Full NOS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 149
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- NOS1 p.Glu1422Gln Conflicting Single submitter
-
NOS1 p.Met619Leu
Conflicting
Single submitter
NOS1-related disorder
Predictors lean, ClinVar uncertain 122
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NOS1 p.Ala162Val Uncertain significance Single submitter
- NOS1 p.Ala227Thr Uncertain significance Single submitter
- NOS1 p.Ala52Thr Uncertain significance Single submitter
- NOS1 p.Ala571Thr Uncertain significance Single submitter
- NOS1 p.Ala641Thr Uncertain significance Single submitter
- NOS1 p.Ala760Thr Uncertain significance Single submitter
- NOS1 p.Arg1021Cys Uncertain significance Single submitter
- NOS1 p.Arg1055Gln Uncertain significance Single submitter
- NOS1 p.Arg1074Trp Uncertain significance Single submitter
- NOS1 p.Arg1129His Uncertain significance Single submitter
- NOS1 p.Arg1129Ser Uncertain significance Single submitter
- NOS1 p.Arg1203Cys Uncertain significance Single submitter
- NOS1 p.Arg1205Gln Uncertain significance Single submitter
- NOS1 p.Arg1243Gln Uncertain significance Single submitter
- NOS1 p.Arg1369Cys Uncertain significance Single submitter
- NOS1 p.Arg19His Uncertain significance Single submitter
- NOS1 p.Arg304His Uncertain significance Single submitter
- NOS1 p.Arg348Lys Uncertain significance Single submitter
- NOS1 p.Arg354His Uncertain significance Single submitter
- NOS1 p.Arg35Trp Uncertain significance Single submitter
- NOS1 p.Arg486Cys Uncertain significance Single submitter
- NOS1 p.Arg48His Uncertain significance Single submitter
- NOS1 p.Arg674Gln Uncertain significance Single submitter
- NOS1 p.Arg843Gly Uncertain significance Single submitter
- NOS1 p.Arg920Thr Uncertain significance Single submitter
- NOS1 p.Arg967Cys Uncertain significance Single submitter
- NOS1 p.Asn1025Ile Uncertain significance Single submitter
- NOS1 p.Asn263Asp Uncertain significance Single submitter
- NOS1 p.Asn263Ser Uncertain significance Single submitter
- NOS1 p.Asn277Asp Uncertain significance Single submitter
- NOS1 p.Asn620Asp Uncertain significance Single submitter
- NOS1 p.Asn972Asp Uncertain significance Single submitter
- NOS1 p.Asp114Gly Uncertain significance Single submitter
- NOS1 p.Asp1398Asn Uncertain significance Single submitter
- NOS1 p.Asp164Asn Uncertain significance Single submitter
- NOS1 p.Asp680Asn Uncertain significance Single submitter
- NOS1 p.Cys673Ser Uncertain significance Single submitter
- NOS1 p.Gln1033His Uncertain significance Single submitter
- NOS1 p.Gln1303Arg Uncertain significance Single submitter
- NOS1 p.Gln167Arg Uncertain significance Single submitter
- NOS1 p.Gln239His Uncertain significance Single submitter
- NOS1 p.Gln505Pro Uncertain significance Single submitter
- NOS1 p.Glu257Gln Uncertain significance Single submitter
- NOS1 p.Gly1257Ser Uncertain significance Single submitter
- NOS1 p.Gly1383Cys Uncertain significance Single submitter
- NOS1 p.Gly1383Ser Uncertain significance Single submitter
- NOS1 p.Gly151Glu Uncertain significance Single submitter
- NOS1 p.Gly156Arg Uncertain significance Single submitter
- NOS1 p.Gly177Ser Uncertain significance Single submitter
- NOS1 p.Gly200Ala Uncertain significance Single submitter
- NOS1 p.Gly200Glu Uncertain significance Single submitter
- NOS1 p.Gly246Ser Uncertain significance Single submitter
- NOS1 p.Gly473Ser Uncertain significance Single submitter
- NOS1 p.Gly69Ser Uncertain significance Single submitter
- NOS1 p.Gly723Val Uncertain significance Single submitter
- NOS1 p.Gly866Arg Uncertain significance Single submitter
- NOS1 p.His1023Tyr Uncertain significance Single submitter
- NOS1 p.His174Arg Uncertain significance Single submitter
- NOS1 p.His174Asp Uncertain significance Single submitter
- NOS1 p.His902Arg Uncertain significance Single submitter
- NOS1 p.Ile1293Thr Uncertain significance Single submitter
- NOS1 p.Ile1421Thr Uncertain significance Single submitter
- NOS1 p.Ile447Phe Uncertain significance Single submitter
- NOS1 p.Ile653Val Uncertain significance Single submitter
- NOS1 p.Ile798Thr Uncertain significance Single submitter
- NOS1 p.Ile955Val Uncertain significance Single submitter
- NOS1 p.Leu869Phe Uncertain significance Single submitter
- NOS1 p.Leu889Pro Uncertain significance Single submitter
- NOS1 p.Lys1292Glu Uncertain significance Single submitter
- NOS1 p.Lys247Arg Uncertain significance Single submitter
- NOS1 p.Lys268Asn Uncertain significance Single submitter
- NOS1 p.Lys268Met Uncertain significance Single submitter
- NOS1 p.Lys391Arg Uncertain significance Single submitter
- NOS1 p.Met1065Val Uncertain significance Single submitter
- NOS1 p.Met1371Val Uncertain significance Single submitter
- NOS1 p.Met5Ile Uncertain significance Single submitter
- NOS1 p.Met688Val Uncertain significance Single submitter
- NOS1 p.Met793Val Uncertain significance Single submitter
- NOS1 p.Phe1019Leu Uncertain significance Single submitter
- NOS1 p.Pro1061Leu Uncertain significance Single submitter
- NOS1 p.Pro1164Leu Uncertain significance Single submitter
- NOS1 p.Pro155Leu Uncertain significance Single submitter
- NOS1 p.Pro159Thr Uncertain significance Single submitter
- NOS1 p.Pro180Ser Uncertain significance Single submitter
- NOS1 p.Pro272Leu Uncertain significance Single submitter
- NOS1 p.Pro293Leu Uncertain significance Single submitter
- NOS1 p.Pro361Leu Uncertain significance Single submitter
- NOS1 p.Pro518Ser Uncertain significance Single submitter
- NOS1 p.Pro983Ala Uncertain significance Single submitter
- NOS1 p.Ser1004Gly Uncertain significance Single submitter
- NOS1 p.Ser1123Thr Uncertain significance Single submitter
- NOS1 p.Ser1238Thr Uncertain significance Single submitter
- NOS1 p.Ser136Thr Uncertain significance Single submitter
- NOS1 p.Ser220Asn Uncertain significance Single submitter
- NOS1 p.Ser300Phe Uncertain significance Single submitter
- NOS1 p.Ser37Asn Uncertain significance Single submitter
- NOS1 p.Ser845Asn Uncertain significance Single submitter
- NOS1 p.Thr112Ala Uncertain significance Single submitter
- NOS1 p.Thr112Ile Uncertain significance Single submitter
- NOS1 p.Thr192Ile Uncertain significance Single submitter
- NOS1 p.Thr438Asn Uncertain significance Single submitter
- NOS1 p.Thr626Met Uncertain significance Single submitter
- NOS1 p.Thr768Ile Uncertain significance Single submitter
- NOS1 p.Thr906Asn Uncertain significance Single submitter
- NOS1 p.Trp266Leu Uncertain significance Single submitter
- NOS1 p.Tyr1180Cys Uncertain significance Single submitter
- NOS1 p.Tyr408Phe Uncertain significance Single submitter
- NOS1 p.Val1020Met Uncertain significance Single submitter
- NOS1 p.Val1040Ile Uncertain significance Single submitter
- NOS1 p.Val1152Met Uncertain significance Single submitter
- NOS1 p.Val122Leu Uncertain significance Single submitter
- NOS1 p.Val1309Ile Uncertain significance Single submitter
- NOS1 p.Val133Met Uncertain significance Single submitter
- NOS1 p.Val1353Ile Uncertain significance Single submitter
- NOS1 p.Val1357Ile Uncertain significance Single submitter
- NOS1 p.Val1431Ile Uncertain significance Single submitter
- NOS1 p.Val15Ile Uncertain significance Single submitter
- NOS1 p.Val194Ile Uncertain significance Single submitter
- NOS1 p.Val256Met Uncertain significance Single submitter
- NOS1 p.Val261Ala Uncertain significance Single submitter
- NOS1 p.Val274Ile Uncertain significance Single submitter
- NOS1 p.Val853Ile Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- NOS1 p.Ala1118Val Uncertain significance Single submitter
- NOS1 p.Ala1360Ser Uncertain significance Single submitter
- NOS1 p.Arg1001Trp Uncertain significance Single submitter
- NOS1 p.Arg1089Cys Uncertain significance Single submitter
- NOS1 p.Arg121Pro Uncertain significance Single submitter
- NOS1 p.Arg486His Uncertain significance Single submitter
- NOS1 p.Arg98Ser Uncertain significance Single submitter
- NOS1 p.Asp472Glu Uncertain significance Single submitter
- NOS1 p.Asp966Glu Uncertain significance Single submitter
- NOS1 p.Cys302Arg Uncertain significance Single submitter
- NOS1 p.Gln469His Uncertain significance Single submitter
- NOS1 p.Glu1087Lys Uncertain significance Single submitter
- NOS1 p.Gly726Arg Uncertain significance Single submitter
- NOS1 p.Leu216Pro Uncertain significance Single submitter
- NOS1 p.Leu323Phe Uncertain significance Single submitter
- NOS1 p.Leu701Phe Uncertain significance Single submitter
- NOS1 p.Lys402Glu Uncertain significance Single submitter
- NOS1 p.Met688Ile Uncertain significance Single submitter
- NOS1 p.Ser845Arg Uncertain significance Single submitter
- NOS1 p.Ser854Pro Uncertain significance Single submitter
- NOS1 p.Thr1076Met Uncertain significance Single submitter
- NOS1 p.Thr1110Met Uncertain significance Single submitter
- NOS1 p.Thr1170Ile Uncertain significance Single submitter
- NOS1 p.Thr396Ala Uncertain significance Single submitter
- NOS1 p.Val1340Met Uncertain significance Single submitter
All NOS1 variants
Conflicting classifications of pathogenicity 2
- p.Glu1422Gln Single submitter ⚠
- p.Met619Leu Single submitter NOS1-related disorder ⚠
Benign 23
- c.3042-6C>T Multiple submitters
- p.Ile1151= Multiple submitters
- p.Leu1174= Multiple submitters
- p.Leu907= Multiple submitters
- p.Pro140= Multiple submitters
- p.Ser153Leu Multiple submitters
- p.Thr91= Multiple submitters
- p.Tyr487= Multiple submitters
- p.Ala1059= Single submitter
- p.Asn725Asp Single submitter
- p.Gly255= Single submitter
- p.His475= Single submitter
- p.Leu1022= Single submitter
- p.Leu869Pro Single submitter
- c.2532-2233A>G No assertion criteria NOS1-related disorder
- c.2532-2256C>A No assertion criteria NOS1-related disorder
- c.2532-2258C>T No assertion criteria NOS1-related disorder
- c.*8C>T No assertion criteria NOS1-related disorder
- p.Asp1086= No assertion criteria NOS1-related disorder
- p.His902= No assertion criteria NOS1-related disorder
- p.Ile734= No assertion criteria NOS1-related disorder
- p.Pro867= No assertion criteria NOS1-related disorder
- p.Val1353= No assertion criteria NOS1-related disorder
Benign/Likely benign 3
- p.Asp241Asn Multiple submitters
- p.Asp394Ala Multiple submitters
- p.Gly595Ser Multiple submitters
Likely benign 49
- p.Ala1337= Multiple submitters
- p.Gly864Asp Multiple submitters
- p.Val524= Multiple submitters
- c.1524+7G>A Single submitter
- c.1941+8C>T Single submitter
- c.2367+7G>C Single submitter
- c.2649-9C>T Single submitter
- p.Arg1203His Single submitter
- p.Arg1298= Single submitter
- p.Arg601= Single submitter
- p.Arg834= Single submitter
- p.Asn991Ser Single submitter
- p.Asp1429= Single submitter
- p.Asp352= Single submitter
- p.Asp952= Single submitter
- p.Gln369= Single submitter
- p.Glu2= Single submitter
- p.Gly1349= Single submitter
- p.Gly142Ser Single submitter
- p.Gly7Ser Single submitter
- p.Gly827Ser Single submitter
- p.Leu1078= Single submitter
- p.Leu265= Single submitter
- p.Leu635= Single submitter
- p.Phe1286= Single submitter
- p.Phe262Val Single submitter
- p.Phe467= Single submitter
- p.Pro1159= Single submitter
- p.Pro40= Single submitter
- p.Ser1016= Single submitter
- p.Ser153= Single submitter
- p.Ser37= Single submitter
- p.Ser746= Single submitter
- p.Ser771= Single submitter
- p.Ser89= Single submitter
- p.Thr1110= Single submitter
- p.Thr112= Single submitter
- p.Tyr1102= Single submitter
- p.Tyr1140= Single submitter
- p.Val273= Single submitter
- p.Asn1075= No assertion criteria NOS1-related disorder
- p.Asn532= No assertion criteria NOS1-related disorder
- p.Glu144= No assertion criteria NOS1-related disorder
- p.Gly563= No assertion criteria NOS1-related disorder
- p.Ile1053= No assertion criteria NOS1-related disorder
- p.Phe887= No assertion criteria NOS1-related disorder
- p.Pro187Ser No assertion criteria NOS1-related disorder
- p.Thr329= No assertion criteria NOS1-related disorder
- p.Thr718= No assertion criteria NOS1-related disorder
Uncertain significance 164
- c.2532-2185A>G Single submitter
- c.2532-2197G>A Single submitter
- c.2532-2218T>A Single submitter
- c.2532-2255C>T Single submitter
- c.2532-2273C>T Single submitter
- c.2532-2278C>T Single submitter
- c.4290-1G>A Single submitter
- p.Ala1118Val Single submitter ⚠
- p.Ala1360Ser Single submitter ⚠
- p.Ala162Val Single submitter ⚠
- p.Ala227Thr Single submitter ⚠
- p.Ala52Thr Single submitter ⚠
- p.Ala571Thr Single submitter ⚠
- p.Ala641Thr Single submitter ⚠
- p.Ala760Thr Single submitter ⚠
- p.Arg1001Trp Single submitter ⚠
- p.Arg1021Cys Single submitter ⚠
- p.Arg1055Gln Single submitter ⚠
- p.Arg1074Trp Single submitter ⚠
- p.Arg1089Cys Single submitter ⚠
- p.Arg1129His Single submitter ⚠
- p.Arg1129Ser Single submitter ⚠
- p.Arg1203Cys Single submitter ⚠
- p.Arg1205Gln Single submitter ⚠
- p.Arg121Pro Single submitter ⚠
- p.Arg1243Gln Single submitter ⚠
- p.Arg1369Cys Single submitter ⚠
- p.Arg1412Cys Single submitter
- p.Arg19His Single submitter ⚠
- p.Arg304His Single submitter ⚠
- p.Arg348Lys Single submitter ⚠
- p.Arg354His Single submitter ⚠
- p.Arg35Trp Single submitter ⚠
- p.Arg486Cys Single submitter ⚠
- p.Arg486His Single submitter ⚠
- p.Arg48His Single submitter ⚠
- p.Arg674Gln Single submitter ⚠
- p.Arg843Gly Single submitter ⚠
- p.Arg920Thr Single submitter ⚠
- p.Arg967Cys Single submitter ⚠
- p.Arg975His Single submitter
- p.Arg98Ser Single submitter ⚠
- p.Asn1025Ile Single submitter ⚠
- p.Asn263Asp Single submitter ⚠
- p.Asn263Ser Single submitter ⚠
- p.Asn277Asp Single submitter ⚠
- p.Asn620Asp Single submitter ⚠
- p.Asn972Asp Single submitter ⚠
- p.Asp114Gly Single submitter ⚠
- p.Asp114Val Single submitter
- p.Asp1398Asn Single submitter ⚠
- p.Asp164Asn Single submitter ⚠
- p.Asp472Glu Single submitter ⚠
- p.Asp680Asn Single submitter ⚠
- p.Asp966Glu Single submitter ⚠
- p.Cys302Arg Single submitter ⚠
- p.Cys673Ser Single submitter ⚠
- p.Gln1033His Single submitter ⚠
- p.Gln1303Arg Single submitter ⚠
- p.Gln167Arg Single submitter ⚠
- p.Gln239His Single submitter ⚠
- p.Gln369Arg Single submitter
- p.Gln469His Single submitter ⚠
- p.Gln505Pro Single submitter ⚠
- p.Glu1087Lys Single submitter ⚠
- p.Glu257Gln Single submitter ⚠
- p.Gly1257Ser Single submitter ⚠
- p.Gly1383Asp Single submitter
- p.Gly1383Cys Single submitter ⚠
- p.Gly1383Ser Single submitter ⚠
- p.Gly151Glu Single submitter ⚠
- p.Gly156Arg Single submitter ⚠
- p.Gly177Ser Single submitter ⚠
- p.Gly200Ala Single submitter ⚠
- p.Gly200Glu Single submitter ⚠
- p.Gly246Ser Single submitter ⚠
- p.Gly473Ser Single submitter ⚠
- p.Gly533Ser Single submitter
- p.Gly69Ser Single submitter ⚠
- p.Gly723Val Single submitter ⚠
- p.Gly726Arg Single submitter ⚠
- p.Gly866Arg Single submitter ⚠
- p.His1023Tyr Single submitter ⚠
- p.His174Arg Single submitter ⚠
- p.His174Asp Single submitter ⚠
- p.His902Arg Single submitter ⚠
- p.Ile1293Thr Single submitter ⚠
- p.Ile1421Thr Single submitter ⚠
- p.Ile447Phe Single submitter ⚠
- p.Ile653Val Single submitter ⚠
- p.Ile798Thr Single submitter ⚠
- p.Ile955Val Single submitter ⚠
- p.Leu216Pro Single submitter ⚠
- p.Leu323Phe Single submitter ⚠
- p.Leu701Phe Single submitter ⚠
- p.Leu869Phe Single submitter ⚠
- p.Leu889Pro Single submitter ⚠
- p.Lys1292Glu Single submitter ⚠
- p.Lys247Arg Single submitter ⚠
- p.Lys268Asn Single submitter ⚠
- p.Lys268Met Single submitter ⚠
- p.Lys391Arg Single submitter ⚠
- p.Lys402Glu Single submitter ⚠
- p.Met1065Val Single submitter ⚠
- p.Met1371Val Single submitter ⚠
- p.Met5Ile Single submitter ⚠
- p.Met688Ile Single submitter ⚠
- p.Met688Val Single submitter ⚠
- p.Met793Val Single submitter ⚠
- p.Phe1019Leu Single submitter ⚠
- p.Pro1061Leu Single submitter ⚠
- p.Pro1164Leu Single submitter ⚠
- p.Pro155Leu Single submitter ⚠
- p.Pro159Thr Single submitter ⚠
- p.Pro180Ser Single submitter ⚠
- p.Pro272Leu Single submitter ⚠
- p.Pro293Leu Single submitter ⚠
- p.Pro361Leu Single submitter ⚠
- p.Pro518Ser Single submitter ⚠
- p.Pro983Ala Single submitter ⚠
- p.Ser1004Gly Single submitter ⚠
- p.Ser1123Thr Single submitter ⚠
- p.Ser1238Thr Single submitter ⚠
- p.Ser136Thr Single submitter ⚠
- p.Ser220Asn Single submitter ⚠
- p.Ser300Phe Single submitter ⚠
- p.Ser37Asn Single submitter ⚠
- p.Ser845Arg Single submitter ⚠
- p.Ser845Asn Single submitter ⚠
- p.Ser854Pro Single submitter ⚠
- p.Thr1076Met Single submitter ⚠
- p.Thr1110Met Single submitter ⚠
- p.Thr112Ala Single submitter ⚠
- p.Thr112Ile Single submitter ⚠
- p.Thr1170Ile Single submitter ⚠
- p.Thr192Ile Single submitter ⚠
- p.Thr396Ala Single submitter ⚠
- p.Thr438Asn Single submitter ⚠
- p.Thr626Met Single submitter ⚠
- p.Thr768Ile Single submitter ⚠
- p.Thr906Asn Single submitter ⚠
- p.Trp266Leu Single submitter ⚠
- p.Tyr1180Cys Single submitter ⚠
- p.Tyr408Phe Single submitter ⚠
- p.Tyr644Asn Single submitter
- p.Tyr846Cys Single submitter
- p.Val1020Met Single submitter ⚠
- p.Val1040Ile Single submitter ⚠
- p.Val1152Met Single submitter ⚠
- p.Val122Leu Single submitter ⚠
- p.Val1309Ile Single submitter ⚠
- p.Val133Met Single submitter ⚠
- p.Val1340Met Single submitter ⚠
- p.Val1353Ile Single submitter ⚠
- p.Val1357Ile Single submitter ⚠
- p.Val1431Ile Single submitter ⚠
- p.Val15Ile Single submitter ⚠
- p.Val194Ile Single submitter ⚠
- p.Val256Met Single submitter ⚠
- p.Val261Ala Single submitter ⚠
- p.Val274Ile Single submitter ⚠
- p.Val853Ile Single submitter ⚠
- p.Asn1007fs No assertion criteria NOS1-related disorder
- p.Tyr1202Ter No assertion criteria