NAGS — 639 ClinVar variants

All ClinVar germline NAGS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 167 flagged for review →

38 Pathogenic · 12 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 17 Conflicting · 17 Benign · 3 Benign/Likely benign · 327 Likely benign · 170 Uncertain significance

Full NAGS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 167

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

NAGS p.Thr264Met Likely pathogenic Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ala279Thr Pathogenic No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency

Predictors agree, ClinVar conflicts 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

NAGS p.Arg22Pro Conflicting Single submitter
Inborn genetic diseases
NAGS p.Asp406Asn Conflicting Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ile291Asn Conflicting Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ser79Leu Conflicting Single submitter
Inborn genetic diseases
NAGS p.Thr125Lys Conflicting Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency

Predictors lean, ClinVar uncertain 124

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

NAGS p.Ala12Pro Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Ala12Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Ala194Glu Uncertain significance Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ala39Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Ala39Val Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Ala64Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Arg22Trp Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Arg36Gln Uncertain significance Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Arg412Cys Uncertain significance Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Asn425Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Asn482Lys Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Asp531Glu Uncertain significance Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gln126Lys Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Gly237Asp Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Gly27Asp Uncertain significance Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gly533Ser Uncertain significance Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gly65Ser Uncertain significance Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Leu19Pro Uncertain significance Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Leu411Met Uncertain significance Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Pro117Leu Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Ser302Gly Uncertain significance Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ser97Leu Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Thr129Ser Uncertain significance Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Val154Leu Uncertain significance Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Val204Ala Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Val239Ile Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Val241Leu Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Ala134Val Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Ala179Val Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ala206Gly Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Ala206Val Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Ala265Thr Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Ala266Ser Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ala28Val Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ala353Ser Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ala374Thr Uncertain significance Single submitter
NAGS p.Ala409Pro Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Ala52Ser Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Arg11Gln Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Arg286Gln Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Arg30Lys Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Arg37Gln Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Arg37Gly Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Asn294Ser Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Asn516Ser Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Asp317Asn Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Asp393Gly Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Asp405Asn Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Asp67Asn Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Cys463Trp Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gln332His Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Glu191Gly Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Glu61Gln Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Glu94Lys Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Gly118Ala Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gly236Cys Uncertain significance Single submitter
NAGS p.Gly237Ser Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Gly24Asp Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gly253Asp Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Gly262Arg Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gly389Ser Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gly42Val Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gly457Ser Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.His232Gln Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ile255Ser Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Ile261Val Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ile418Thr Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Ile499Val Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Ile508Met Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Leu340Phe Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Leu436Arg Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Leu460Pro Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Leu49Phe Uncertain significance Single submitter
NAGS p.Lys328Asn Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Lys402Gln Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Met432Val Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Phe362Ser Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Pro183Leu Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Pro256Ser Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Pro260Thr Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Pro45Gln Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Pro480Ala Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Pro84Leu Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Pro86Ser Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Ser156Asn Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ser326Gly Uncertain significance Single submitter
NAGS p.Ser448Asn Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ser83Gly Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Ser97Pro Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Thr125Pro Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Thr181Ala Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Thr327Ile Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Thr3Met Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Trp502Ser Uncertain significance Single submitter
NAGS p.Tyr407His Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Tyr424Asn Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Val350Ile Uncertain significance Single submitter
NAGS p.Val380Glu Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Val392Glu Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Val420Ile Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Val69Leu Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ala160Thr Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ala506Asp Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ala7Val Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Arg166Cys Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Arg22Gln Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Arg300Ser Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Arg342Leu Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Arg99Pro Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Asn295His Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Asp317Gly Uncertain significance No assertion criteria
NAGS-related disorder
NAGS p.Asp531Val Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Cys186Trp Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gln126His Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Glu276Gln Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gly27Val Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Leu460Val Uncertain significance No assertion criteria
esophageal atresia
NAGS p.Lys401Arg Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ser530Ala Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ser534Arg Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Thr3Arg Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Val395Ile Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Val74Phe Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Val9Ile Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency

Predictors split 36

The independent predictors disagree with each other — read with care.

NAGS p.Gly400Ala Uncertain significance Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Leu391Val Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Met169Leu Likely benign Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Phe371Leu Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Ser511Cys Uncertain significance Multiple submitters
Inborn genetic diseases
NAGS p.Val241Met Uncertain significance Multiple submitters
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ala182Pro Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ala428Val Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ala518Thr Conflicting Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Arg121Leu Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Arg121Ser Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Asn321Ile Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Asp205Val Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Cys113Phe Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Cys200Arg Likely pathogenic Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Glu142Gln Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Gly185Val Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Gly236Ser Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gly262Ala Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gly438Asp Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Leu442Val Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Lys201Thr Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Met167Val Likely pathogenic Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Phe292Leu Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Phe503Ile Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Pro178Ser Uncertain significance Single submitter
Inborn genetic diseases
NAGS p.Ser100Trp Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ser398Cys Uncertain significance Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Trp248Cys Likely pathogenic Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Tyr512Cys Uncertain significance Single submitter
NAGS p.Val241Ala Conflicting Single submitter
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ala426Thr Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gln452His Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Gly504Ala Uncertain significance No assertion criteria
NAGS-related disorder
NAGS p.Leu124Phe Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS p.Ser240Leu Uncertain significance No assertion criteria
hyperammonemia due to N-acetylglutamate synthase deficiency

All NAGS variants

Pathogenic 38

c.1097-1G>C Multiple submitters Inborn genetic diseases
p.Arg342fs Multiple submitters Inborn genetic diseases
p.Gly438fs Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Thr439fs Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
c.1096+2T>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.916-2A>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala115fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala12fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala179fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg104fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg36fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg38fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg41fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg47fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asp443fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Cys113Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Cys130Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Cys259Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gln126Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Glu242Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly219fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly298fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.His346fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.His488fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu31fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Lys372Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Met333fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro45fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro93fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser100Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser188fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Trp123Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Val15fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Val435fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala279Thr No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Glu433Asp No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency
p.Trp324Ter No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency
p.Trp484Arg No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency

Pathogenic/Likely pathogenic 12

c.1097-2A>G Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
c.916-2A>T Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala16fs Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg208Ter Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gln247Ter Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly24fs Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu370fs Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser410Pro Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Thr431Ile Multiple submitters Inborn genetic diseases
p.Trp190Ter Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Tyr424Ter Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Tyr441Ter Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency

Likely pathogenic 55

c.701+1G>A Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
c.915+1G>T Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
c.915+2_915+6del Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg465fs Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Glu142Ter Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu430Pro Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Phe472fs Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser240Ter Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
c.1096+1G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1096+2_1096+7del Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1096+2T>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1097-1G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1097-52_1105del Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1268+1G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1269-1G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.426+2T>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.460_1021del Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.701+2dup Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.702-1G>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.915+2T>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.915+2T>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.916-3C>G Single submitter
p.Arg376Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg37fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asp105fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asp406fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asp67fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Cys200Arg Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gln128Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gln195Ter Single submitter
p.Gln331Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gln497Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Glu62fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly153fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly21fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.His488_Ser489insTer Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu275fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu281fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Lys372fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Lys401fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Met167Val Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Pro216fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser280fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser280Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser302fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Thr264Met Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Trp248Cys Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Trp484Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Trp498Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Trp502Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Tyr407fs Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Tyr419Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Tyr63Ter Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.427-218A>G No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala35fs No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency

Conflicting classifications of pathogenicity 17

c.1268+2T>C Single submitter Inborn genetic diseases
c.427-218A>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.427-222G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala518Thr Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Arg22Pro Single submitter Inborn genetic diseases ⚠
p.Arg509Gln Single submitter Inborn genetic diseases
p.Asn210= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asp406Asn Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ile291Asn Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Pro434= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro82= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser269= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser79Leu Single submitter Inborn genetic diseases ⚠
p.Thr125Lys Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Val143= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Val204= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Val241Ala Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠

Benign 17

c.1096+20C>G Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
c.1096+300G>A Multiple submitters
c.1097-236C>T Multiple submitters
c.1451+9T>C Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
c.916-57T>C Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
c.*211C>T Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
c.*3C>T Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Glu61Gly Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
c.1096+255del Single submitter
c.1268+17del Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1268+17dup Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1451+211G>C Single submitter
c.1452-141_1452-137del Single submitter
c.426+184C>T Single submitter
c.426+19G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.426+224T>A Single submitter
p.Ser155= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency

Benign/Likely benign 3

c.1268+11G>A Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Phe362= Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro95Leu Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency

Likely benign 327

Showing the top 300 by review status; the full set is in the sitemap.

c.1096+8C>T Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
c.1269-18G>A Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
c.1451+27G>C Multiple submitters
c.1452-11C>T Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
c.915+29C>T Multiple submitters
p.Ala314Thr Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala349= Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly437= Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu285= Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu5= Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Met169Leu Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Tyr63= Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
p.Val215= Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency
c.1096+14G>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1096+17G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1096+18G>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1096+20C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1096+25_1096+55del Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1096+7G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1096+9G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1097-10C>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1097-11TCC[2] Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1097-12A>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1097-16C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1097-19C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1097-20C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1097-4C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1097-7C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1097-9C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1268+10C>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1268+10C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1268+12G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1268+13A>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1268+15C>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1268+16C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1268+17C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1268+20A>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1268+7C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1268+9G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1269-11C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1269-14T>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1269-15C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1269-18G>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1269-20C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1269-5G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1269-7G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1451+13A>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1451+16C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1451+20G>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1451+7C>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1451+7C>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1451+9_1451+10inv Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1451+9T>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1452-12C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1452-13T>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1452-15C>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1452-4C>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1452-9C>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.1452-9C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.426+13C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.426+15G>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.426+16C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.426+17G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.426+7G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.427-12dup Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.427-4G>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.427-5C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.427-9C>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.427-9C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.701+10C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.701+10del Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.701+11G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.701+16G>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.701+17C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.701+20G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.701+5_701+13dup Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.701+6TGCCCGCCC[3] Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.701+7G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.701+8C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.702-14C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.702-16C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.702-20G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.702-4A>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.702-7C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.915+10T>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.915+14_915+16dup Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.915+14_915+17del Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.915+18A>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.915+18A>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.915+6_915+7insAA Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.915+8C>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.916-15T>C Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.916-9C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.-18C>T Single submitter
p.Ala12= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala120= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala134= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala139= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala14= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala160= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala194= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala197= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala2= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala206= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala212= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala213= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala227= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala265= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala266= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala279= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala284= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala314= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala322= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala35= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala353= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala354= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala374= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala39= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala397= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala40= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala409= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala426= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala427= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala428= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala52= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala529= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala66= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala75= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg104= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg121= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg18= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg208= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg225= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg267= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg286= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg30= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg300= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg334= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg342= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg38= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg390= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg404= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg41= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg414= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg466= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg47= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg476= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Arg99= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asn111= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asn295= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asn309= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asn311= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asn373= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asn396= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asn425= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asp144= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asp317= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asp384= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asp405= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asp467= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asp490= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asp531= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asp67= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Asp68= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Cys113= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Cys150= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Cys249= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Cys259= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gln112= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gln151Pro Single submitter Inborn genetic diseases
p.Gln195= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gln469= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gln497= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Glu145= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Glu191= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Glu433= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Glu91= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly114= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly118= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly153= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly176= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly185= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly21= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly221= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly236= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly237= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly24= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly26= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly27= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly297= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly34= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly368= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly389= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly423= Single submitter Inborn genetic diseases
p.Gly46= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly98= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.His209= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.His232= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.His304= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.His345= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.His346= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.His416= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.His488= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.His517= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.His90= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ile238= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ile257= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ile261= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ile290= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ile336= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ile351= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu10= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu101= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu110= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu148= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu164= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu172= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu187= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu19= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu196= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu245= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu250= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu272= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu281= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu293= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu299= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu312= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu343= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu358= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu370= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu408= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu430= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu436= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu460= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu464= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu471= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu49= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu505= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu514= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu521= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Lys385= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Lys519= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Lys527= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Phe109= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Phe127= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Phe138= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Phe159= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Phe399= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Phe472= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Phe493= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Phe501= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro117= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro17= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro171= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro178= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro180= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro229= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro231= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro256= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro287= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro313= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro344= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro440= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro45= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro480= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro522= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro532= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro56= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro58= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro59= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro60= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro73= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro78= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro84= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro86= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro87= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Pro89= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser133= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser184= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser240= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser252= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser274= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser280= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser302= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser347= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser348= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser367= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser410= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser421= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser44= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser449= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser456= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser524= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser54= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser70= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser72= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser92= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ser97= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Thr129= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Thr25= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency

Uncertain significance 170

p.Ala12Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala12Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala194Glu Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ala39Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala39Val Multiple submitters Inborn genetic diseases ⚠
p.Ala64Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg22Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg36Gln Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Arg412Cys Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Asn425Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn482Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp531Glu Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gln126Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly237Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly27Asp Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gly400Ala Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gly533Ser Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gly65Ser Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Leu19Pro Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Leu391Val Multiple submitters Inborn genetic diseases ⚠
p.Leu411Met Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Phe371Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro117Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser302Gly Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ser511Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser97Leu Multiple submitters Inborn genetic diseases ⚠
p.Thr129Ser Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Val154Leu Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Val204Ala Multiple submitters Inborn genetic diseases ⚠
p.Val239Ile Multiple submitters Inborn genetic diseases ⚠
p.Val241Leu Multiple submitters Inborn genetic diseases ⚠
p.Val241Met Multiple submitters hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
c.1096+6G>A Single submitter
c.426+6C>T Single submitter
c.915+5G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.-6GTC[1] Single submitter
c.*115G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.*382C>T Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.*43A>G Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
c.*90G>A Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala134Val Single submitter Inborn genetic diseases ⚠
p.Ala179Val Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ala182Pro Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ala206Gly Single submitter Inborn genetic diseases ⚠
p.Ala206Val Single submitter Inborn genetic diseases ⚠
p.Ala265Thr Single submitter Inborn genetic diseases ⚠
p.Ala266Ser Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ala28Val Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ala353Ser Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ala374Thr Single submitter ⚠
p.Ala409Pro Single submitter Inborn genetic diseases ⚠
p.Ala428Val Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ala518= Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala52Ser Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Arg11Gln Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Arg121Leu Single submitter Inborn genetic diseases ⚠
p.Arg121Ser Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Arg286Gln Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Arg30Lys Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Arg37Gln Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Arg37Gly Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Asn294Ser Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Asn321Ile Single submitter Inborn genetic diseases ⚠
p.Asn516Ser Single submitter Inborn genetic diseases ⚠
p.Asp205Val Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Asp315Asn Single submitter Inborn genetic diseases
p.Asp317Asn Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Asp393Gly Single submitter Inborn genetic diseases ⚠
p.Asp405Asn Single submitter Inborn genetic diseases ⚠
p.Asp523Glu Single submitter Inborn genetic diseases
p.Asp67Asn Single submitter Inborn genetic diseases ⚠
p.Cys113Phe Single submitter Inborn genetic diseases ⚠
p.Cys463Trp Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gln332His Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Glu142Gln Single submitter Inborn genetic diseases ⚠
p.Glu191Gly Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Glu61Gln Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Glu94Lys Single submitter Inborn genetic diseases ⚠
p.Gly118Ala Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gly185Val Single submitter Inborn genetic diseases ⚠
p.Gly236Cys Single submitter ⚠
p.Gly236Ser Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gly237Ser Single submitter Inborn genetic diseases ⚠
p.Gly24Asp Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gly253Asp Single submitter Inborn genetic diseases ⚠
p.Gly262Ala Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gly262Arg Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gly389Ser Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gly42Val Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gly438Asp Single submitter Inborn genetic diseases ⚠
p.Gly457Ser Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.His232Gln Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ile255Ser Single submitter Inborn genetic diseases ⚠
p.Ile261Val Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ile418Thr Single submitter Inborn genetic diseases ⚠
p.Ile499Val Single submitter Inborn genetic diseases ⚠
p.Ile508Met Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Leu340Phe Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Leu436Arg Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Leu442Val Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Leu460Pro Single submitter Inborn genetic diseases ⚠
p.Leu49Phe Single submitter ⚠
p.Lys201Thr Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Lys328Asn Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Lys402Gln Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Met1Thr Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency
p.Met432Val Single submitter Inborn genetic diseases ⚠
p.Phe292Leu Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Phe362Ser Single submitter Inborn genetic diseases ⚠
p.Phe503Ile Single submitter Inborn genetic diseases ⚠
p.Pro178Ser Single submitter Inborn genetic diseases ⚠
p.Pro183Leu Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Pro256Ser Single submitter Inborn genetic diseases ⚠
p.Pro260Thr Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Pro45Gln Single submitter Inborn genetic diseases ⚠
p.Pro480Ala Single submitter Inborn genetic diseases ⚠
p.Pro84Leu Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Pro86Ser Single submitter Inborn genetic diseases ⚠
p.Ser100Trp Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ser156Asn Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ser326Gly Single submitter ⚠
p.Ser398Cys Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ser448Asn Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ser83Gly Single submitter Inborn genetic diseases ⚠
p.Ser97Pro Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Thr125Pro Single submitter Inborn genetic diseases ⚠
p.Thr181Ala Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Thr327Ile Single submitter Inborn genetic diseases ⚠
p.Thr3Met Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Trp502Ser Single submitter ⚠
p.Tyr407His Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Tyr424Asn Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Tyr512Cys Single submitter ⚠
p.Val350Ile Single submitter ⚠
p.Val380Glu Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Val392Glu Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Val420Ile Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Val69Leu Single submitter hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
c.1452-7C>A No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency
p.Ala160Thr No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ala426Thr No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ala506Asp No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ala7Val No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Arg166Cys No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Arg22Gln No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Arg300Ser No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Arg342Leu No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Arg99Pro No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Asn295His No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Asp317Gly No assertion criteria NAGS-related disorder ⚠
p.Asp531Val No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Cys186Trp No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gln126His No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gln452His No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Glu228= No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency
p.Glu276Gln No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gly27Val No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Gly438= No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency
p.Gly504Ala No assertion criteria NAGS-related disorder ⚠
p.Leu124Phe No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Leu246= No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency
p.Leu460Val No assertion criteria esophageal atresia ⚠
p.Lys401Arg No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ser240Leu No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ser530Ala No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Ser534Arg No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Thr3Arg No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Val395Ile No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Val74Phe No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠
p.Val9Ile No assertion criteria hyperammonemia due to N-acetylglutamate synthase deficiency ⚠