ASL — 896 ClinVar variants

All ClinVar germline ASL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 201 flagged for review →

60 Pathogenic · 56 Pathogenic/Likely pathogenic · 114 Likely pathogenic · 50 Conflicting · 40 Benign · 9 Benign/Likely benign · 408 Likely benign · 159 Uncertain significance

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

⚑ Evidence disagreements 201

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 24

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

ASL p.Ala149Val Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg126Gln Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg126Trp Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg182Gln Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg193Gln Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg379Cys Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg456Gln Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg456Trp Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg95His Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Glu189Gly Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Glu219Gln Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Ile100Thr Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Met230Val Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Val178Met Pathogenic Multiple submitters
Inborn genetic diseases
ASL p.Ala300Ser Likely pathogenic Single submitter
argininosuccinic aciduria
ASL p.Arg126Leu Likely pathogenic Single submitter
argininosuccinic aciduria
ASL p.Asp152Asn Likely pathogenic Single submitter
argininosuccinic aciduria
ASL p.Asp152Tyr Likely pathogenic Single submitter
argininosuccinic aciduria
ASL p.Gly402Arg Likely pathogenic Single submitter
argininosuccinic aciduria
ASL p.Ile225Met Likely pathogenic Single submitter
argininosuccinic aciduria
ASL p.Leu227Pro Pathogenic Single submitter
ASL p.Leu260Phe Likely pathogenic Single submitter
argininosuccinic aciduria
ASL p.Lys69Arg Likely pathogenic Single submitter
argininosuccinic aciduria
ASL p.Pro208Thr Likely pathogenic Single submitter
argininosuccinic aciduria

Predictors agree, ClinVar conflicts 17

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

ASL p.Ala104Val Conflicting Single submitter
argininosuccinic aciduria
ASL p.Ala205Val Conflicting Single submitter
argininosuccinic aciduria
ASL p.Ala444Val Conflicting Single submitter
argininosuccinic aciduria
ASL p.Arg111Gln Conflicting Single submitter
argininosuccinic aciduria
ASL p.Arg182Gly Conflicting Single submitter
argininosuccinic aciduria
ASL p.Arg297Trp Conflicting Single submitter
argininosuccinic aciduria
ASL p.Gln326Lys Conflicting Single submitter
argininosuccinic aciduria
ASL p.Glu241Ala Conflicting Single submitter
argininosuccinic aciduria
ASL p.Glu258Lys Conflicting Single submitter
argininosuccinic aciduria
ASL p.Gly134Asp Conflicting Single submitter
argininosuccinic aciduria
ASL p.Gly280Glu Conflicting Single submitter
argininosuccinic aciduria
ASL p.Gly381Arg Conflicting Single submitter
ASL p.Leu180Arg Conflicting Single submitter
ASL p.Met21Thr Conflicting Single submitter
argininosuccinic aciduria
ASL p.Pro156Leu Conflicting Single submitter
argininosuccinic aciduria
ASL p.Ser282Arg Conflicting Single submitter
Inborn genetic diseases
ASL p.Trp169Cys Conflicting Single submitter
argininosuccinic aciduria

Predictors lean, ClinVar uncertain 59

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

ASL p.Ala26Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ASL p.Arg453His Uncertain significance Multiple submitters
argininosuccinic aciduria
ASL p.Gly392Arg Uncertain significance Multiple submitters
argininosuccinic aciduria
ASL p.Leu440Pro Uncertain significance Multiple submitters
argininosuccinic aciduria
ASL p.Pro166Ser Uncertain significance Multiple submitters
ASL p.Ser340Arg Uncertain significance Multiple submitters
argininosuccinic aciduria
ASL p.Val271Leu Uncertain significance Multiple submitters
argininosuccinic aciduria
ASL p.Ala147Glu Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Ala164Pro Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Ala26Val Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Arg12Leu Uncertain significance Single submitter
ASL p.Arg141Lys Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Arg236Gly Uncertain significance Single submitter
ASL p.Arg306Pro Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Arg32Gln Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Asn195Asp Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Asn289Lys Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Asn289Thr Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Asn359Lys Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Asn84Ser Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Asp291Asn Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Asp85Gly Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Cys249Arg Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Cys249Phe Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Gly10Asp Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Gly134Ser Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Gly392Glu Uncertain significance Single submitter
ASL p.His160Asn Uncertain significance Single submitter
ASL p.Ile28Thr Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Ile350Thr Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Leu174Pro Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Leu216Phe Uncertain significance Single submitter
ASL p.Leu248Pro Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Leu253Pro Uncertain significance Single submitter
ASL p.Leu260His Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Leu310Phe Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Leu96Pro Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Phe333Ser Uncertain significance Single submitter
ASL p.Pro156Ser Uncertain significance Single submitter
ASL p.Ser133Leu Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Ser229Arg Uncertain significance Single submitter
ASL p.Ser298Ile Uncertain significance Single submitter
ASL p.Ser417Arg Uncertain significance Single submitter
ASL p.Ser417Asn Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Ser447Arg Uncertain significance Single submitter
ASL p.Thr142Ser Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Thr90Lys Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Tyr376Cys Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Val434Gly Uncertain significance Single submitter
ASL p.Ala240Val Uncertain significance No assertion criteria
argininosuccinic aciduria
ASL p.Gln162Arg Uncertain significance No assertion criteria
argininosuccinic aciduria
ASL p.Gly316Arg Uncertain significance No assertion criteria
argininosuccinic aciduria
ASL p.His388Gln Uncertain significance No assertion criteria
argininosuccinic aciduria
ASL p.Leu136Pro Uncertain significance No assertion criteria
ASL-related disorder
ASL p.Leu262Pro Uncertain significance No assertion criteria
argininosuccinic aciduria
ASL p.Pro166Thr Uncertain significance No assertion criteria
argininosuccinic aciduria
ASL p.Ser184Phe Uncertain significance No assertion criteria
argininosuccinic aciduria
ASL p.Ser229Thr Uncertain significance No assertion criteria
argininosuccinic aciduria
ASL p.Val395Leu Uncertain significance No assertion criteria
argininosuccinic aciduria

Predictors split 101

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

ASL p.Ala177Gly Uncertain significance Multiple submitters
argininosuccinic aciduria
ASL p.Ala2Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ASL p.Arg146Trp Pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg151His Uncertain significance Multiple submitters
Inborn genetic diseases
ASL p.Arg186Gln Pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg186Trp Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg193Trp Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg213Gln Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg32Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ASL p.Arg379Gly Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg445His Uncertain significance Multiple submitters
Inborn genetic diseases
ASL p.Arg94Cys Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg94His Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Arg95Cys Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Asp449Asn Uncertain significance Multiple submitters
argininosuccinic aciduria
ASL p.Glu389Lys Uncertain significance Multiple submitters
argininosuccinic aciduria
ASL p.Leu154Pro Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Met256Thr Pathogenic/Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Ser447Asn Likely pathogenic Multiple submitters
argininosuccinic aciduria
ASL p.Thr131Met Benign/Likely benign Multiple submitters
argininosuccinic aciduria
ASL p.Thr313Asn Uncertain significance Multiple submitters
argininosuccinic aciduria
ASL p.Val196Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ASL p.Val349Ile Uncertain significance Multiple submitters
argininosuccinic aciduria
ASL p.Val70Ala Uncertain significance Multiple submitters
argininosuccinic aciduria
ASL p.Ala205Thr Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Ala224Val Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Ala246Thr Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Ala404Thr Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Ala44Gly Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Ala457Pro Uncertain significance Single submitter
ASL p.Ala461Val Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Ala52Val Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Arg146Gln Conflicting Single submitter
argininosuccinic aciduria
ASL p.Arg168Cys Conflicting Single submitter
argininosuccinic aciduria
ASL p.Arg168His Conflicting Single submitter
argininosuccinic aciduria
ASL p.Arg191Gly Conflicting Single submitter
argininosuccinic aciduria
ASL p.Arg191Trp Conflicting Single submitter
argininosuccinic aciduria
ASL p.Arg217Gln Uncertain significance Single submitter
ASL p.Arg306Trp Conflicting Single submitter
argininosuccinic aciduria
ASL p.Arg379His Conflicting Single submitter
argininosuccinic aciduria
ASL p.Arg379Leu Likely pathogenic Single submitter
argininosuccinic aciduria
ASL p.Arg453Cys Conflicting Single submitter
argininosuccinic aciduria
ASL p.Arg453Leu Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Asn195Ser Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Asn406Lys Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Asp145Gly Conflicting Single submitter
argininosuccinic aciduria
ASL p.Asp18Asn Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Asp367Asn Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Asp423Asn Conflicting Single submitter
argininosuccinic aciduria
ASL p.Asp429Tyr Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Asp449His Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Cys129Ser Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Gln414His Uncertain significance Single submitter
ASL p.Gln463Arg Benign Single submitter
argininosuccinic aciduria
ASL p.Glu214Gln Uncertain significance Single submitter
ASL p.Glu399Lys Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Gly402Trp Conflicting Single submitter
argininosuccinic aciduria
ASL p.Gly431Trp Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Gly77Arg Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Ile204Thr Conflicting Single submitter
argininosuccinic aciduria
ASL p.Ile225Thr Conflicting Single submitter
argininosuccinic aciduria
ASL p.Ile452Phe Conflicting Single submitter
argininosuccinic aciduria
ASL p.Leu135Arg Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Leu343Phe Uncertain significance Single submitter
ASL p.Leu49Met Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Leu81Pro Conflicting Single submitter
argininosuccinic aciduria
ASL p.Lys315Arg Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Lys380Glu Conflicting Single submitter
argininosuccinic aciduria
ASL p.Lys401Glu Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Met125Thr Likely pathogenic Single submitter
neurodevelopmental disorder
ASL p.Met230Leu Uncertain significance Single submitter
ASL p.Met250Val Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Met360Thr Pathogenic Single submitter
argininosuccinic aciduria
ASL p.Met360Val Conflicting Single submitter
argininosuccinic aciduria
ASL p.Met368Val Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Phe238Tyr Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Ser130Pro Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Ser133Trp Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Ser247Leu Conflicting Single submitter
Inborn genetic diseases
ASL p.Ser421Leu Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Thr103Met Likely benign Single submitter
argininosuccinic aciduria
ASL p.Thr109Met Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Thr233Pro Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Thr233Ser Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Thr347Ile Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Thr352Met Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Tyr375Cys Conflicting Single submitter
congenital portosystemic shunt
ASL p.Val303Met Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Val39Phe Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Val403Phe Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Val424Met Conflicting Single submitter
argininosuccinic aciduria
ASL p.Val427Met Uncertain significance Single submitter
argininosuccinic aciduria
ASL p.Val448Ile Conflicting Single submitter
argininosuccinic aciduria
ASL p.Val455Gly Uncertain significance Single submitter
Inborn genetic diseases
ASL p.Ala16Val Uncertain significance No assertion criteria
argininosuccinic aciduria
ASL p.Asn406His Uncertain significance No assertion criteria
argininosuccinic aciduria
ASL p.Gln127His Uncertain significance No assertion criteria
ASL-related disorder
ASL p.Leu188Pro Uncertain significance No assertion criteria
argininosuccinic aciduria
ASL p.Pro208Ser Uncertain significance No assertion criteria
ASL-related disorder
ASL p.Ser319Asn Uncertain significance No assertion criteria
argininosuccinic aciduria
ASL p.Val14Met Uncertain significance No assertion criteria
argininosuccinic aciduria

All ASL variants

Pathogenic 60

c.1045_1062+7del Multiple submitters argininosuccinic aciduria
c.446+1G>A Multiple submitters argininosuccinic aciduria
c.446+2T>C Multiple submitters argininosuccinic aciduria
c.524+2T>G Multiple submitters argininosuccinic aciduria
c.602+1G>T Multiple submitters argininosuccinic aciduria
c.656-1G>A Multiple submitters argininosuccinic aciduria
p.Arg113Gln Multiple submitters argininosuccinic aciduria
p.Arg113Trp Multiple submitters argininosuccinic aciduria
p.Arg146Trp Multiple submitters argininosuccinic aciduria ⚠
p.Arg182Ter Multiple submitters argininosuccinic aciduria
p.Arg186_Leu187insGlyThrAspProArgLeuTer Multiple submitters argininosuccinic aciduria
p.Arg186Gln Multiple submitters argininosuccinic aciduria ⚠
p.Arg213Ter Multiple submitters argininosuccinic aciduria
p.Arg217Ter Multiple submitters argininosuccinic aciduria
p.Asp183_Ser184insTer Multiple submitters argininosuccinic aciduria
p.Gln354Ter Multiple submitters argininosuccinic aciduria
p.Leu325fs Multiple submitters argininosuccinic aciduria
p.Met256fs Multiple submitters argininosuccinic aciduria
p.Trp245Ter Multiple submitters argininosuccinic aciduria
p.Val178Met Multiple submitters Inborn genetic diseases ⚠
p.Val211fs Multiple submitters argininosuccinic aciduria
p.Val349fs Multiple submitters neurodevelopmental disorder
c.1250+1G>A Single submitter argininosuccinic aciduria
c.292delG Single submitter argininosuccinic aciduria
c.446+1G>C Single submitter argininosuccinic aciduria
c.524+1G>A Single submitter argininosuccinic aciduria
c.602+2T>C Single submitter argininosuccinic aciduria
c.719-1G>A Single submitter argininosuccinic aciduria
c.719-1G>C Single submitter argininosuccinic aciduria
c.918+5G>A Single submitter argininosuccinic aciduria
p.Arg126Pro Single submitter argininosuccinic aciduria
p.Arg32fs Single submitter argininosuccinic aciduria
p.Arg94fs Single submitter argininosuccinic aciduria
p.Arg95fs Single submitter argininosuccinic aciduria
p.Asp152fs Single submitter argininosuccinic aciduria
p.Asp231His Single submitter argininosuccinic aciduria
p.Asp367fs Single submitter argininosuccinic aciduria
p.Asp423His Single submitter argininosuccinic aciduria
p.Cys129Ter Single submitter argininosuccinic aciduria
p.Gln326fs Single submitter argininosuccinic aciduria
p.Gln326Ter Single submitter argininosuccinic aciduria
p.Gln407Ter Single submitter argininosuccinic aciduria
p.Glu36Ter Single submitter argininosuccinic aciduria
p.Glu98Ter Single submitter argininosuccinic aciduria
p.Gly110Ter Single submitter argininosuccinic aciduria
p.Gly41Asp Single submitter argininosuccinic aciduria
p.Gly66Asp Single submitter argininosuccinic aciduria
p.Leu136fs Single submitter argininosuccinic aciduria
p.Leu227Pro Single submitter ⚠
p.Leu54fs Single submitter argininosuccinic aciduria
p.Lys192_Arg193dup Single submitter argininosuccinic aciduria
p.Lys323fs Single submitter argininosuccinic aciduria
p.Met360Thr Single submitter argininosuccinic aciduria ⚠
p.Phe79fs Single submitter argininosuccinic aciduria
p.Ser391Ter Single submitter argininosuccinic aciduria
p.Thr443fs Single submitter congenital myasthenic syndrome 4C
p.Trp74Ter Single submitter argininosuccinic aciduria
p.Tyr375fs Single submitter argininosuccinic aciduria
p.Tyr430Ter Single submitter argininosuccinic aciduria
p.Tyr437Ter Single submitter argininosuccinic aciduria

Pathogenic/Likely pathogenic 56

c.1143+1G>T Multiple submitters argininosuccinic aciduria
c.13-1G>C Multiple submitters argininosuccinic aciduria
c.348+1G>A Multiple submitters argininosuccinic aciduria
c.349-1G>A Multiple submitters argininosuccinic aciduria
c.447-1G>A Multiple submitters argininosuccinic aciduria
c.447-2A>G Multiple submitters argininosuccinic aciduria
c.602+1G>A Multiple submitters argininosuccinic aciduria
c.603-1G>C Multiple submitters argininosuccinic aciduria
c.718+5G>A Multiple submitters argininosuccinic aciduria
c.834-1G>A Multiple submitters argininosuccinic aciduria
p.Ala149Val Multiple submitters argininosuccinic aciduria ⚠
p.Ala398Asp Multiple submitters argininosuccinic aciduria
p.Arg111Trp Multiple submitters argininosuccinic aciduria
p.Arg126Gln Multiple submitters argininosuccinic aciduria ⚠
p.Arg126Trp Multiple submitters argininosuccinic aciduria ⚠
p.Arg12Gln Multiple submitters Inborn genetic diseases
p.Arg146Pro Multiple submitters argininosuccinic aciduria
p.Arg182Gln Multiple submitters argininosuccinic aciduria ⚠
p.Arg186Trp Multiple submitters argininosuccinic aciduria ⚠
p.Arg193Gln Multiple submitters argininosuccinic aciduria ⚠
p.Arg193Trp Multiple submitters argininosuccinic aciduria ⚠
p.Arg213Gln Multiple submitters argininosuccinic aciduria ⚠
p.Arg236Gln Multiple submitters argininosuccinic aciduria
p.Arg236Trp Multiple submitters argininosuccinic aciduria
p.Arg379Cys Multiple submitters argininosuccinic aciduria ⚠
p.Arg385Cys Multiple submitters argininosuccinic aciduria
p.Arg385His Multiple submitters argininosuccinic aciduria
p.Arg456Gln Multiple submitters argininosuccinic aciduria ⚠
p.Arg456Trp Multiple submitters argininosuccinic aciduria ⚠
p.Arg94Cys Multiple submitters argininosuccinic aciduria ⚠
p.Arg95Cys Multiple submitters argininosuccinic aciduria ⚠
p.Arg95His Multiple submitters argininosuccinic aciduria ⚠
p.Asp31Asn Multiple submitters argininosuccinic aciduria
p.Asp38fs Multiple submitters argininosuccinic aciduria
p.Asp87Gly Multiple submitters argininosuccinic aciduria
p.Gln286Arg Multiple submitters argininosuccinic aciduria
p.Gln326His Multiple submitters argininosuccinic aciduria
p.Gln454Ter Multiple submitters argininosuccinic aciduria
p.Glu189Gly Multiple submitters argininosuccinic aciduria ⚠
p.Glu59Lys Multiple submitters argininosuccinic aciduria
p.Glu86Ala Multiple submitters argininosuccinic aciduria
p.Gly206Val Multiple submitters argininosuccinic aciduria
p.Ile100Thr Multiple submitters argininosuccinic aciduria ⚠
p.Leu154Pro Multiple submitters argininosuccinic aciduria ⚠
p.Leu325Ter Multiple submitters argininosuccinic aciduria
p.Leu419fs Multiple submitters argininosuccinic aciduria
p.Met230Val Multiple submitters argininosuccinic aciduria ⚠
p.Met256Thr Multiple submitters argininosuccinic aciduria ⚠
p.Ser170Asn Multiple submitters argininosuccinic aciduria
p.Ser254Arg Multiple submitters argininosuccinic aciduria
p.Ser433Arg Multiple submitters argininosuccinic aciduria
p.Trp35Ter Multiple submitters argininosuccinic aciduria
p.Tyr321Ter Multiple submitters argininosuccinic aciduria
p.Tyr376Ter Multiple submitters argininosuccinic aciduria
p.Val403fs Multiple submitters argininosuccinic aciduria
p.Val434Leu Multiple submitters argininosuccinic aciduria

Likely pathogenic 114

c.1062+5G>C Multiple submitters argininosuccinic aciduria
c.1143+1del Multiple submitters argininosuccinic aciduria
c.291+1G>T Multiple submitters argininosuccinic aciduria
c.978+1G>A Multiple submitters argininosuccinic aciduria
p.Arg182Pro Multiple submitters argininosuccinic aciduria
p.Arg297Gln Multiple submitters argininosuccinic aciduria
p.Arg379Gly Multiple submitters argininosuccinic aciduria ⚠
p.Arg385Leu Multiple submitters argininosuccinic aciduria
p.Arg94His Multiple submitters argininosuccinic aciduria ⚠
p.Glu219Gln Multiple submitters argininosuccinic aciduria ⚠
p.Glu241Lys Multiple submitters argininosuccinic aciduria
p.Gly200Val Multiple submitters argininosuccinic aciduria
p.Gly309Arg Multiple submitters argininosuccinic aciduria
p.Ile100Asn Multiple submitters argininosuccinic aciduria
p.Pro208Arg Multiple submitters argininosuccinic aciduria
p.Ser447Asn Multiple submitters argininosuccinic aciduria ⚠
p.Thr103fs Multiple submitters argininosuccinic aciduria
p.Trp124Ter Multiple submitters argininosuccinic aciduria
c.1143+1G>A Single submitter argininosuccinic aciduria
c.1143+1G>C Single submitter argininosuccinic aciduria
c.1143+2T>G Single submitter argininosuccinic aciduria
c.1250+2T>A Single submitter argininosuccinic aciduria
c.13-2A>G Single submitter argininosuccinic aciduria
c.208-1G>A Single submitter argininosuccinic aciduria
c.208-1G>T Single submitter argininosuccinic aciduria
c.291+2T>C Single submitter argininosuccinic aciduria
c.348+1G>T Single submitter argininosuccinic aciduria
c.525-1G>A Single submitter argininosuccinic aciduria
c.603-2A>C Single submitter argininosuccinic aciduria
c.603-2A>G Single submitter argininosuccinic aciduria
c.656-1dup Single submitter argininosuccinic aciduria
c.656-2A>C Single submitter argininosuccinic aciduria
c.656-2A>T Single submitter argininosuccinic aciduria
c.718+1G>A Single submitter argininosuccinic aciduria
c.718+1G>C Single submitter argininosuccinic aciduria
c.718+1G>T Single submitter argininosuccinic aciduria
c.918_919-31del Single submitter argininosuccinic aciduria
c.919-1G>A Single submitter argininosuccinic aciduria
p.Ala246fs Single submitter argininosuccinic aciduria
p.Ala300Ser Single submitter argininosuccinic aciduria ⚠
p.Arg111fs Single submitter argininosuccinic aciduria
p.Arg126Leu Single submitter argininosuccinic aciduria ⚠
p.Arg12Trp Single submitter argininosuccinic aciduria
p.Arg146Gly Single submitter argininosuccinic aciduria
p.Arg168fs Single submitter argininosuccinic aciduria
p.Arg168Ser Single submitter neurodevelopmental disorder
p.Arg213Pro Single submitter argininosuccinic aciduria
p.Arg379Leu Single submitter argininosuccinic aciduria ⚠
p.Arg94Ser Single submitter argininosuccinic aciduria
p.Asn82fs Single submitter argininosuccinic aciduria
p.Asp115Tyr Single submitter argininosuccinic aciduria
p.Asp152Asn Single submitter argininosuccinic aciduria ⚠
p.Asp152Tyr Single submitter argininosuccinic aciduria ⚠
p.Asp237Glu Single submitter argininosuccinic aciduria
p.Asp291fs Single submitter argininosuccinic aciduria
p.Cys307fs Single submitter argininosuccinic aciduria
p.Gln127Ter Single submitter argininosuccinic aciduria
p.Gln165Ter Single submitter argininosuccinic aciduria
p.Gln272Ter Single submitter argininosuccinic aciduria
p.Gln286Pro Single submitter argininosuccinic aciduria
p.Gln40fs Single submitter argininosuccinic aciduria
p.Gln76Ter Single submitter argininosuccinic aciduria
p.Glu241Asp Single submitter argininosuccinic aciduria
p.Glu241Ter Single submitter argininosuccinic aciduria
p.Glu4fs Single submitter argininosuccinic aciduria
p.Glu59Ter Single submitter argininosuccinic aciduria
p.Glu59Val Single submitter argininosuccinic aciduria
p.Glu86Ter Single submitter argininosuccinic aciduria
p.Gly101Asp Single submitter argininosuccinic aciduria
p.Gly10fs Single submitter argininosuccinic aciduria
p.Gly157Val Single submitter
p.Gly206Asp Single submitter argininosuccinic aciduria
p.Gly206Ser Single submitter argininosuccinic aciduria
p.Gly210fs Single submitter argininosuccinic aciduria
p.Gly305Arg Single submitter argininosuccinic aciduria
p.Gly402Arg Single submitter argininosuccinic aciduria ⚠
p.Gly48fs Single submitter argininosuccinic aciduria
p.His160fs Single submitter argininosuccinic aciduria
p.His252Tyr Single submitter argininosuccinic aciduria
p.His432fs Single submitter argininosuccinic aciduria
p.Ile20fs Single submitter argininosuccinic aciduria
p.Ile225fs Single submitter argininosuccinic aciduria
p.Ile225Met Single submitter argininosuccinic aciduria ⚠
p.Leu135fs Single submitter argininosuccinic aciduria
p.Leu260Phe Single submitter argininosuccinic aciduria ⚠
p.Leu311Pro Single submitter argininosuccinic aciduria
p.Leu34fs Single submitter argininosuccinic aciduria
p.Lys192fs Single submitter argininosuccinic aciduria
p.Lys69Arg Single submitter argininosuccinic aciduria ⚠
p.Met125Thr Single submitter neurodevelopmental disorder ⚠
p.Met143fs Single submitter argininosuccinic aciduria
p.Met1Thr Single submitter argininosuccinic aciduria
p.Met21Ile Single submitter argininosuccinic aciduria
p.Met230Ile Single submitter argininosuccinic aciduria
p.Met230Thr Single submitter argininosuccinic aciduria
p.Met250Lys Single submitter argininosuccinic aciduria
p.Met360Ile Single submitter argininosuccinic aciduria
p.Phe268fs Single submitter argininosuccinic aciduria
p.Phe304fs Single submitter argininosuccinic aciduria
p.Phe333fs Single submitter argininosuccinic aciduria
p.Pro156Gln Single submitter argininosuccinic aciduria
p.Pro19fs Single submitter argininosuccinic aciduria
p.Pro208Thr Single submitter argininosuccinic aciduria ⚠
p.Ser133Ter Single submitter argininosuccinic aciduria
p.Ser175_Ala179delinsArg Single submitter argininosuccinic aciduria
p.Thr233fs Single submitter argininosuccinic aciduria
p.Trp450Ter Single submitter argininosuccinic aciduria
p.Tyr321Asn Single submitter argininosuccinic aciduria
p.Tyr45Asn Single submitter argininosuccinic aciduria
p.Val378Gly Single submitter
c.1062+1G>T No assertion criteria argininosuccinic aciduria
c.1249_1250+12del No assertion criteria argininosuccinic aciduria
p.Gly442fs No assertion criteria argininosuccinic aciduria
p.Leu369fs No assertion criteria argininosuccinic aciduria

Conflicting classifications of pathogenicity 50

c.718+3G>A Single submitter argininosuccinic aciduria
c.833+4A>G Single submitter argininosuccinic aciduria
c.-31G>A Single submitter argininosuccinic aciduria
c.-44+9G>A Single submitter argininosuccinic aciduria
p.Ala104Val Single submitter argininosuccinic aciduria ⚠
p.Ala205Val Single submitter argininosuccinic aciduria ⚠
p.Ala444Val Single submitter argininosuccinic aciduria ⚠
p.Arg111Gln Single submitter argininosuccinic aciduria ⚠
p.Arg146Gln Single submitter argininosuccinic aciduria ⚠
p.Arg168Cys Single submitter argininosuccinic aciduria ⚠
p.Arg168His Single submitter argininosuccinic aciduria ⚠
p.Arg182Gly Single submitter argininosuccinic aciduria ⚠
p.Arg191Gly Single submitter argininosuccinic aciduria ⚠
p.Arg191Trp Single submitter argininosuccinic aciduria ⚠
p.Arg297Trp Single submitter argininosuccinic aciduria ⚠
p.Arg306Trp Single submitter argininosuccinic aciduria ⚠
p.Arg379His Single submitter argininosuccinic aciduria ⚠
p.Arg453Cys Single submitter argininosuccinic aciduria ⚠
p.Asn25= Single submitter argininosuccinic aciduria
p.Asp145Gly Single submitter argininosuccinic aciduria ⚠
p.Asp423Asn Single submitter argininosuccinic aciduria ⚠
p.Gln162= Single submitter argininosuccinic aciduria
p.Gln326Lys Single submitter argininosuccinic aciduria ⚠
p.Glu241Ala Single submitter argininosuccinic aciduria ⚠
p.Glu258Lys Single submitter argininosuccinic aciduria ⚠
p.Gly134Asp Single submitter argininosuccinic aciduria ⚠
p.Gly280Glu Single submitter argininosuccinic aciduria ⚠
p.Gly381Arg Single submitter ⚠
p.Gly402Trp Single submitter argininosuccinic aciduria ⚠
p.Ile204Thr Single submitter argininosuccinic aciduria ⚠
p.Ile225Thr Single submitter argininosuccinic aciduria ⚠
p.Ile452Phe Single submitter argininosuccinic aciduria ⚠
p.Leu180Arg Single submitter ⚠
p.Leu81Pro Single submitter argininosuccinic aciduria ⚠
p.Lys380Glu Single submitter argininosuccinic aciduria ⚠
p.Met21Thr Single submitter argininosuccinic aciduria ⚠
p.Met360Val Single submitter argininosuccinic aciduria ⚠
p.Pro156Leu Single submitter argininosuccinic aciduria ⚠
p.Ser247Leu Single submitter Inborn genetic diseases ⚠
p.Ser282Arg Single submitter Inborn genetic diseases ⚠
p.Ser365= Single submitter argininosuccinic aciduria
p.Ser421= Single submitter argininosuccinic aciduria
p.Ter465= Single submitter argininosuccinic aciduria
p.Thr279= Single submitter argininosuccinic aciduria
p.Thr352= Single submitter argininosuccinic aciduria
p.Trp169Cys Single submitter argininosuccinic aciduria ⚠
p.Tyr158= Single submitter argininosuccinic aciduria
p.Tyr375Cys Single submitter congenital portosystemic shunt ⚠
p.Val424Met Single submitter argininosuccinic aciduria ⚠
p.Val448Ile Single submitter argininosuccinic aciduria ⚠

Benign 40

c.1062+16C>G Multiple submitters argininosuccinic aciduria
c.1063-21C>T Multiple submitters
c.1063-57G>C Multiple submitters argininosuccinic aciduria
c.12+105C>T Multiple submitters argininosuccinic aciduria
c.12+227C>G Multiple submitters
c.602+123T>C Multiple submitters
c.602+13C>T Multiple submitters argininosuccinic aciduria
c.603-244G>A Multiple submitters
c.655+124A>G Multiple submitters argininosuccinic aciduria
c.656-102T>C Multiple submitters argininosuccinic aciduria
c.718+14A>T Multiple submitters argininosuccinic aciduria
c.978+30C>T Multiple submitters argininosuccinic aciduria
c.978+46G>T Multiple submitters
c.978+63C>T Multiple submitters argininosuccinic aciduria
c.*265C>T Multiple submitters argininosuccinic aciduria
c.*268G>C Multiple submitters argininosuccinic aciduria
c.*287C>T Multiple submitters argininosuccinic aciduria
c.*323G>A Multiple submitters argininosuccinic aciduria
p.Lys192= Multiple submitters argininosuccinic aciduria
c.1062+17del Single submitter argininosuccinic aciduria
c.1062+17dup Single submitter argininosuccinic aciduria
c.1063-3del Single submitter argininosuccinic aciduria
c.1144-80del Single submitter
c.1251-47G>A Single submitter
c.348+13dup Single submitter argininosuccinic aciduria
c.348+22del Single submitter argininosuccinic aciduria
c.447-188G>A Single submitter
c.602+22del Single submitter argininosuccinic aciduria
c.603-90GT[16] Single submitter
c.603-90GT[18] Single submitter
c.603-90GT[19] Single submitter
c.603-90GT[21] Single submitter
c.656-3del Single submitter argininosuccinic aciduria
c.718+303G>A Single submitter
c.719-272A>G Single submitter
c.918+17dup Single submitter argininosuccinic aciduria
c.978+15del Single submitter argininosuccinic aciduria
c.978+17G>A Single submitter argininosuccinic aciduria
p.Gln463Arg Single submitter argininosuccinic aciduria ⚠
p.Val118= Single submitter argininosuccinic aciduria

Benign/Likely benign 9

c.656-3dup Multiple submitters argininosuccinic aciduria
c.656-5C>A Multiple submitters argininosuccinic aciduria
c.978+15dup Multiple submitters argininosuccinic aciduria
p.Arg186= Multiple submitters argininosuccinic aciduria
p.Asp61= Multiple submitters argininosuccinic aciduria
p.Cys426= Multiple submitters argininosuccinic aciduria
p.His388= Multiple submitters argininosuccinic aciduria
p.Leu54= Multiple submitters argininosuccinic aciduria
p.Thr131Met Multiple submitters argininosuccinic aciduria ⚠

Likely benign 408

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

c.1062+7C>T Multiple submitters argininosuccinic aciduria
c.1063-18G>A Multiple submitters argininosuccinic aciduria
c.1143+13C>A Multiple submitters argininosuccinic aciduria
c.291+7C>G Multiple submitters argininosuccinic aciduria
c.524+12G>T Multiple submitters argininosuccinic aciduria
c.602+41G>C Multiple submitters
c.602+42C>A Multiple submitters
c.656-14T>A Multiple submitters argininosuccinic aciduria
c.656-5C>T Multiple submitters argininosuccinic aciduria
c.718+101G>A Multiple submitters
c.978+47C>T Multiple submitters
p.Gly110= Multiple submitters argininosuccinic aciduria
p.Gly431= Multiple submitters argininosuccinic aciduria
p.Gly53= Multiple submitters argininosuccinic aciduria
p.Leu311= Multiple submitters argininosuccinic aciduria
p.Leu343= Multiple submitters argininosuccinic aciduria
p.Tyr30= Multiple submitters argininosuccinic aciduria
c.1062+12C>T Single submitter argininosuccinic aciduria
c.1062+13C>A Single submitter argininosuccinic aciduria
c.1062+13C>T Single submitter argininosuccinic aciduria
c.1062+14C>A Single submitter argininosuccinic aciduria
c.1062+16C>A Single submitter argininosuccinic aciduria
c.1062+17C>G Single submitter argininosuccinic aciduria
c.1062+7C>G Single submitter argininosuccinic aciduria
c.1063-10G>A Single submitter argininosuccinic aciduria
c.1063-12C>T Single submitter argininosuccinic aciduria
c.1063-14A>T Single submitter argininosuccinic aciduria
c.1063-15C>T Single submitter argininosuccinic aciduria
c.1063-19C>T Single submitter argininosuccinic aciduria
c.1063-8G>A Single submitter argininosuccinic aciduria
c.1143+16C>A Single submitter argininosuccinic aciduria
c.1143+18del Single submitter argininosuccinic aciduria
c.1143+20G>T Single submitter argininosuccinic aciduria
c.1143+8T>C Single submitter argininosuccinic aciduria
c.1143+8T>G Single submitter argininosuccinic aciduria
c.1143+9G>A Single submitter argininosuccinic aciduria
c.1144-14T>A Single submitter argininosuccinic aciduria
c.1144-15C>T Single submitter argininosuccinic aciduria
c.1144-19C>T Single submitter argininosuccinic aciduria
c.1144-35C>A Single submitter
c.1144-5C>T Single submitter argininosuccinic aciduria
c.1144-96G>A Single submitter
c.12+10A>T Single submitter argininosuccinic aciduria
c.12+11C>A Single submitter argininosuccinic aciduria
c.12+14C>T Single submitter argininosuccinic aciduria
c.12+15G>T Single submitter argininosuccinic aciduria
c.12+17G>A Single submitter argininosuccinic aciduria
c.12+20C>A Single submitter argininosuccinic aciduria
c.12+8G>A Single submitter argininosuccinic aciduria
c.1250+11del Single submitter argininosuccinic aciduria
c.1250+13C>T Single submitter argininosuccinic aciduria
c.1250+18C>T Single submitter argininosuccinic aciduria
c.1250+8C>T Single submitter argininosuccinic aciduria
c.1251-10C>G Single submitter argininosuccinic aciduria
c.1251-10C>T Single submitter argininosuccinic aciduria
c.1251-13C>T Single submitter argininosuccinic aciduria
c.1251-18C>A Single submitter argininosuccinic aciduria
c.1251-4C>G Single submitter argininosuccinic aciduria
c.1251-8C>G Single submitter argininosuccinic aciduria
c.1251-8C>T Single submitter argininosuccinic aciduria
c.13-10T>C Single submitter argininosuccinic aciduria
c.13-12T>A Single submitter argininosuccinic aciduria
c.13-13C>T Single submitter argininosuccinic aciduria
c.13-14G>T Single submitter argininosuccinic aciduria
c.13-19T>C Single submitter argininosuccinic aciduria
c.13-209del Single submitter
c.13-4C>T Single submitter argininosuccinic aciduria
c.13-7T>C Single submitter argininosuccinic aciduria
c.13-8C>T Single submitter argininosuccinic aciduria
c.207+10G>A Single submitter argininosuccinic aciduria
c.207+10G>C Single submitter argininosuccinic aciduria
c.207+18A>G Single submitter argininosuccinic aciduria
c.207+19G>C Single submitter argininosuccinic aciduria
c.207+20_207+30del Single submitter argininosuccinic aciduria
c.207+8C>A Single submitter argininosuccinic aciduria
c.207+9C>A Single submitter argininosuccinic aciduria
c.207+9C>G Single submitter argininosuccinic aciduria
c.207+9C>T Single submitter argininosuccinic aciduria
c.208-127C>T Single submitter
c.208-14G>T Single submitter argininosuccinic aciduria
c.208-19T>C Single submitter argininosuccinic aciduria
c.208-4A>G Single submitter argininosuccinic aciduria
c.208-5T>C Single submitter argininosuccinic aciduria
c.208-72G>T Single submitter
c.291+16C>T Single submitter argininosuccinic aciduria
c.291+17C>A Single submitter argininosuccinic aciduria
c.291+17C>G Single submitter argininosuccinic aciduria
c.291+7C>A Single submitter argininosuccinic aciduria
c.291+8C>A Single submitter argininosuccinic aciduria
c.292-12C>T Single submitter argininosuccinic aciduria
c.292-12del Single submitter argininosuccinic aciduria
c.292-13C>T Single submitter argininosuccinic aciduria
c.292-14C>T Single submitter argininosuccinic aciduria
c.292-18G>A Single submitter argininosuccinic aciduria
c.292-7C>T Single submitter argininosuccinic aciduria
c.348+10C>T Single submitter argininosuccinic aciduria
c.348+12C>T Single submitter argininosuccinic aciduria
c.348+18C>G Single submitter argininosuccinic aciduria
c.348+19C>T Single submitter argininosuccinic aciduria
c.348+20C>G Single submitter argininosuccinic aciduria
c.348+8A>T Single submitter argininosuccinic aciduria
c.348+8dup Single submitter argininosuccinic aciduria
c.348+9G>T Single submitter argininosuccinic aciduria
c.349-13C>A Single submitter argininosuccinic aciduria
c.349-17A>G Single submitter argininosuccinic aciduria
c.349-18C>T Single submitter argininosuccinic aciduria
c.349-5C>T Single submitter argininosuccinic aciduria
c.349-6G>T Single submitter argininosuccinic aciduria
c.349-9C>G Single submitter argininosuccinic aciduria
c.446+14G>A Single submitter argininosuccinic aciduria
c.446+7C>A Single submitter argininosuccinic aciduria
c.447-10T>C Single submitter argininosuccinic aciduria
c.447-18G>C Single submitter argininosuccinic aciduria
c.447-20C>T Single submitter argininosuccinic aciduria
c.447-9C>T Single submitter argininosuccinic aciduria
c.524+10G>A Single submitter argininosuccinic aciduria
c.524+14G>A Single submitter argininosuccinic aciduria
c.524+16T>C Single submitter argininosuccinic aciduria
c.524+17G>A Single submitter argininosuccinic aciduria
c.525-10C>T Single submitter argininosuccinic aciduria
c.525-11G>A Single submitter argininosuccinic aciduria
c.525-14C>T Single submitter argininosuccinic aciduria
c.525-16C>T Single submitter argininosuccinic aciduria
c.525-8T>C Single submitter argininosuccinic aciduria
c.602+11C>T Single submitter argininosuccinic aciduria
c.602+18G>A Single submitter argininosuccinic aciduria
c.602+18G>T Single submitter argininosuccinic aciduria
c.602+19C>T Single submitter argininosuccinic aciduria
c.603-10G>A Single submitter argininosuccinic aciduria
c.603-12C>T Single submitter argininosuccinic aciduria
c.603-13C>T Single submitter argininosuccinic aciduria
c.603-14C>T Single submitter argininosuccinic aciduria
c.603-20A>G Single submitter argininosuccinic aciduria
c.603-20A>T Single submitter argininosuccinic aciduria
c.603-22C>T Single submitter
c.603-39G>T Single submitter
c.603-5T>C Single submitter argininosuccinic aciduria
c.603-7C>G Single submitter argininosuccinic aciduria
c.603-8C>T Single submitter argininosuccinic aciduria
c.603-90GT[17] Single submitter
c.603-90GT[22] Single submitter
c.655+10C>G Single submitter argininosuccinic aciduria
c.655+16C>T Single submitter argininosuccinic aciduria
c.655+20C>T Single submitter argininosuccinic aciduria
c.655+7C>T Single submitter argininosuccinic aciduria
c.655+8G>A Single submitter argininosuccinic aciduria
c.655+8G>T Single submitter argininosuccinic aciduria
c.656-10_656-7del Single submitter argininosuccinic aciduria
c.656-10del Single submitter argininosuccinic aciduria
c.656-12C>T Single submitter argininosuccinic aciduria
c.656-13C>T Single submitter argininosuccinic aciduria
c.656-4C>A Single submitter argininosuccinic aciduria
c.656-4C>G Single submitter argininosuccinic aciduria
c.656-4C>T Single submitter argininosuccinic aciduria
c.656-5C>G Single submitter argininosuccinic aciduria
c.656-6C>A Single submitter argininosuccinic aciduria
c.656-6C>T Single submitter argininosuccinic aciduria
c.656-7C>T Single submitter argininosuccinic aciduria
c.656-8C>T Single submitter argininosuccinic aciduria
c.656-9C>A Single submitter argininosuccinic aciduria
c.656-9C>T Single submitter argininosuccinic aciduria
c.718+10G>C Single submitter argininosuccinic aciduria
c.718+15G>A Single submitter argininosuccinic aciduria
c.718+15G>C Single submitter argininosuccinic aciduria
c.718+20T>C Single submitter argininosuccinic aciduria
c.718+7C>T Single submitter argininosuccinic aciduria
c.718+8C>T Single submitter argininosuccinic aciduria
c.719-12C>A Single submitter argininosuccinic aciduria
c.719-13C>A Single submitter argininosuccinic aciduria
c.719-13C>G Single submitter argininosuccinic aciduria
c.719-13C>T Single submitter argininosuccinic aciduria
c.719-19T>C Single submitter argininosuccinic aciduria
c.719-5C>T Single submitter argininosuccinic aciduria
c.833+10G>A Single submitter argininosuccinic aciduria
c.833+16C>T Single submitter argininosuccinic aciduria
c.833+19C>T Single submitter argininosuccinic aciduria
c.833+7C>T Single submitter argininosuccinic aciduria
c.834-12C>A Single submitter argininosuccinic aciduria
c.834-12C>T Single submitter argininosuccinic aciduria
c.834-13C>T Single submitter argininosuccinic aciduria
c.834-14A>G Single submitter argininosuccinic aciduria
c.834-20G>T Single submitter argininosuccinic aciduria
c.834-5C>T Single submitter argininosuccinic aciduria
c.834-6C>T Single submitter argininosuccinic aciduria
c.834-9T>C Single submitter argininosuccinic aciduria
c.918+10G>A Single submitter argininosuccinic aciduria
c.918+11_918+14dup Single submitter argininosuccinic aciduria
c.918+12A>G Single submitter argininosuccinic aciduria
c.918+12del Single submitter argininosuccinic aciduria
c.918+13G>C Single submitter argininosuccinic aciduria
c.918+15G>A Single submitter argininosuccinic aciduria
c.918+17G>A Single submitter argininosuccinic aciduria
c.918+18A>G Single submitter argininosuccinic aciduria
c.918+19G>A Single submitter argininosuccinic aciduria
c.918+8A>G Single submitter argininosuccinic aciduria
c.919-10_919-9del Single submitter argininosuccinic aciduria
c.919-10C>T Single submitter argininosuccinic aciduria
c.919-12C>T Single submitter argininosuccinic aciduria
c.919-16C>A Single submitter argininosuccinic aciduria
c.919-20G>A Single submitter argininosuccinic aciduria
c.919-4G>A Single submitter argininosuccinic aciduria
c.919-4G>T Single submitter argininosuccinic aciduria
c.919-5C>G Single submitter argininosuccinic aciduria
c.919-5C>T Single submitter argininosuccinic aciduria
c.919-7C>T Single submitter argininosuccinic aciduria
c.978+10C>G Single submitter argininosuccinic aciduria
c.978+10C>T Single submitter argininosuccinic aciduria
c.978+11G>A Single submitter argininosuccinic aciduria
c.978+12G>A Single submitter argininosuccinic aciduria
c.978+15_978+17delinsAA Single submitter
c.978+15G>A Single submitter argininosuccinic aciduria
c.978+17G>T Single submitter argininosuccinic aciduria
c.979-11G>T Single submitter argininosuccinic aciduria
c.979-12T>C Single submitter argininosuccinic aciduria
c.979-13A>G Single submitter argininosuccinic aciduria
c.979-15C>T Single submitter argininosuccinic aciduria
c.979-16G>A Single submitter argininosuccinic aciduria
c.979-18C>G Single submitter argininosuccinic aciduria
c.979-34G>A Single submitter
c.979-6T>C Single submitter argininosuccinic aciduria
c.979-8C>T Single submitter argininosuccinic aciduria
c.979-9G>A Single submitter argininosuccinic aciduria
c.-44+10C>T Single submitter
c.*218C>T Single submitter argininosuccinic aciduria
c.*36G>A Single submitter
p.Ala102= Single submitter argininosuccinic aciduria
p.Ala104= Single submitter argininosuccinic aciduria
p.Ala16= Single submitter argininosuccinic aciduria
p.Ala164= Single submitter argininosuccinic aciduria
p.Ala177= Single submitter argininosuccinic aciduria
p.Ala203= Single submitter argininosuccinic aciduria
p.Ala205= Single submitter argininosuccinic aciduria
p.Ala232= Single submitter argininosuccinic aciduria
p.Ala240= Single submitter argininosuccinic aciduria
p.Ala257= Single submitter argininosuccinic aciduria
p.Ala26= Single submitter argininosuccinic aciduria
p.Ala308= Single submitter argininosuccinic aciduria
p.Ala341= Single submitter argininosuccinic aciduria
p.Ala390= Single submitter argininosuccinic aciduria
p.Ala390Val Single submitter argininosuccinic aciduria
p.Ala398= Single submitter argininosuccinic aciduria
p.Ala439= Single submitter argininosuccinic aciduria
p.Ala444= Single submitter argininosuccinic aciduria
p.Ala457= Single submitter argininosuccinic aciduria
p.Ala461= Single submitter argininosuccinic aciduria
p.Ala58= Single submitter argininosuccinic aciduria
p.Ala75= Single submitter argininosuccinic aciduria
p.Arg111= Single submitter argininosuccinic aciduria
p.Arg191= Single submitter argininosuccinic aciduria
p.Arg193= Single submitter argininosuccinic aciduria
p.Arg213= Single submitter argininosuccinic aciduria
p.Arg217= Single submitter argininosuccinic aciduria
p.Arg236= Single submitter argininosuccinic aciduria
p.Arg297= Single submitter argininosuccinic aciduria
p.Arg306= Single submitter argininosuccinic aciduria
p.Arg32= Single submitter argininosuccinic aciduria
p.Arg456= Single submitter argininosuccinic aciduria
p.Arg47= Single submitter argininosuccinic aciduria
p.Arg94= Single submitter argininosuccinic aciduria
p.Arg95= Single submitter argininosuccinic aciduria
p.Asn195= Single submitter argininosuccinic aciduria
p.Asn359= Single submitter argininosuccinic aciduria
p.Asn82= Single submitter argininosuccinic aciduria
p.Asn84= Single submitter argininosuccinic aciduria
p.Asn92= Single submitter argininosuccinic aciduria
p.Asp18= Single submitter argininosuccinic aciduria
p.Asp183= Single submitter argininosuccinic aciduria
p.Asp231= Single submitter argininosuccinic aciduria
p.Asp237= Single submitter argininosuccinic aciduria
p.Asp328= Single submitter argininosuccinic aciduria
p.Asp367= Single submitter argininosuccinic aciduria
p.Asp38= Single submitter argininosuccinic aciduria
p.Asp423= Single submitter argininosuccinic aciduria
p.Asp68= Single submitter argininosuccinic aciduria
p.Asp85= Single submitter argininosuccinic aciduria
p.Asp87= Single submitter argininosuccinic aciduria
p.Gln40= Single submitter argininosuccinic aciduria
p.Gln407= Single submitter argininosuccinic aciduria
p.Gln414= Single submitter argininosuccinic aciduria
p.Gln436= Single submitter argininosuccinic aciduria
p.Gln462= Single submitter argininosuccinic aciduria
p.Gln463= Single submitter argininosuccinic aciduria
p.Glu148= Single submitter argininosuccinic aciduria
p.Glu214= Single submitter argininosuccinic aciduria
p.Glu22= Single submitter argininosuccinic aciduria
p.Glu241= Single submitter argininosuccinic aciduria
p.Glu327= Single submitter argininosuccinic aciduria
p.Glu330= Single submitter argininosuccinic aciduria
p.Glu389= Single submitter argininosuccinic aciduria
p.Glu399= Single submitter argininosuccinic aciduria
p.Glu73= Single submitter argininosuccinic aciduria
p.Glu86= Single submitter
p.Glu93= Single submitter argininosuccinic aciduria
p.Glu98= Single submitter argininosuccinic aciduria
p.Gly101= Single submitter argininosuccinic aciduria
p.Gly105= Single submitter argininosuccinic aciduria
p.Gly134= Single submitter argininosuccinic aciduria
p.Gly15= Single submitter argininosuccinic aciduria
p.Gly157= Single submitter argininosuccinic aciduria
p.Gly202= Single submitter argininosuccinic aciduria

Uncertain significance 159

c.291+4C>T Multiple submitters argininosuccinic aciduria
c.655+5G>A Multiple submitters argininosuccinic aciduria
c.978+5G>A Multiple submitters argininosuccinic aciduria
p.Ala177Gly Multiple submitters argininosuccinic aciduria ⚠
p.Ala26Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala2Asp Multiple submitters Inborn genetic diseases ⚠
p.Arg151His Multiple submitters Inborn genetic diseases ⚠
p.Arg32Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg445His Multiple submitters Inborn genetic diseases ⚠
p.Arg453His Multiple submitters argininosuccinic aciduria ⚠
p.Asp449Asn Multiple submitters argininosuccinic aciduria ⚠
p.Glu389Lys Multiple submitters argininosuccinic aciduria ⚠
p.Gly392Arg Multiple submitters argininosuccinic aciduria ⚠
p.Leu440Pro Multiple submitters argininosuccinic aciduria ⚠
p.Lys69= Multiple submitters argininosuccinic aciduria
p.Pro166Ser Multiple submitters ⚠
p.Ser340Arg Multiple submitters argininosuccinic aciduria ⚠
p.Thr313Asn Multiple submitters argininosuccinic aciduria ⚠
p.Val196Ile Multiple submitters Inborn genetic diseases ⚠
p.Val271Leu Multiple submitters argininosuccinic aciduria ⚠
p.Val349Ile Multiple submitters argininosuccinic aciduria ⚠
p.Val70Ala Multiple submitters argininosuccinic aciduria ⚠
c.1063-14_1063-5del Single submitter argininosuccinic aciduria
c.1143+6T>A Single submitter argininosuccinic aciduria
c.1250+5G>A Single submitter
c.208-6C>G Single submitter
c.291+3A>G Single submitter argininosuccinic aciduria
c.348+5T>C Single submitter Inborn genetic diseases
c.446+3G>C Single submitter argininosuccinic aciduria
c.525-26A>C Single submitter
c.656-6C>G Single submitter argininosuccinic aciduria
c.834-5C>A Single submitter argininosuccinic aciduria
c.979-3C>T Single submitter argininosuccinic aciduria
c.-16C>T Single submitter argininosuccinic aciduria
c.-34A>G Single submitter argininosuccinic aciduria
c.*11A>G Single submitter argininosuccinic aciduria
c.*286T>A Single submitter argininosuccinic aciduria
c.*395C>T Single submitter argininosuccinic aciduria
c.*93C>T Single submitter argininosuccinic aciduria
p.Ala147Glu Single submitter argininosuccinic aciduria ⚠
p.Ala164Pro Single submitter argininosuccinic aciduria ⚠
p.Ala177_Val178insAla Single submitter argininosuccinic aciduria
p.Ala205Thr Single submitter argininosuccinic aciduria ⚠
p.Ala224Val Single submitter argininosuccinic aciduria ⚠
p.Ala246Thr Single submitter argininosuccinic aciduria ⚠
p.Ala26Val Single submitter argininosuccinic aciduria ⚠
p.Ala404Thr Single submitter argininosuccinic aciduria ⚠
p.Ala44Gly Single submitter argininosuccinic aciduria ⚠
p.Ala457Pro Single submitter ⚠
p.Ala461Val Single submitter argininosuccinic aciduria ⚠
p.Ala52Val Single submitter argininosuccinic aciduria ⚠
p.Arg12Leu Single submitter ⚠
p.Arg141Lys Single submitter Inborn genetic diseases ⚠
p.Arg217Gln Single submitter ⚠
p.Arg236Gly Single submitter ⚠
p.Arg306Pro Single submitter argininosuccinic aciduria ⚠
p.Arg32Gln Single submitter argininosuccinic aciduria ⚠
p.Arg453Leu Single submitter argininosuccinic aciduria ⚠
p.Arg95_Leu96insArg Single submitter argininosuccinic aciduria
p.Asn195Asp Single submitter Inborn genetic diseases ⚠
p.Asn195Ser Single submitter argininosuccinic aciduria ⚠
p.Asn289Lys Single submitter argininosuccinic aciduria ⚠
p.Asn289Thr Single submitter Inborn genetic diseases ⚠
p.Asn359Lys Single submitter argininosuccinic aciduria ⚠
p.Asn406Lys Single submitter argininosuccinic aciduria ⚠
p.Asn84Ser Single submitter Inborn genetic diseases ⚠
p.Asp18Asn Single submitter Inborn genetic diseases ⚠
p.Asp291Asn Single submitter argininosuccinic aciduria ⚠
p.Asp324_Leu325insPheLysAsp Single submitter argininosuccinic aciduria
p.Asp367Asn Single submitter Inborn genetic diseases ⚠
p.Asp429Tyr Single submitter argininosuccinic aciduria ⚠
p.Asp449His Single submitter Inborn genetic diseases ⚠
p.Asp85Gly Single submitter Inborn genetic diseases ⚠
p.Cys129Ser Single submitter argininosuccinic aciduria ⚠
p.Cys249Arg Single submitter argininosuccinic aciduria ⚠
p.Cys249Phe Single submitter argininosuccinic aciduria ⚠
p.Gln414His Single submitter ⚠
p.Glu214Gln Single submitter ⚠
p.Glu399Lys Single submitter argininosuccinic aciduria ⚠
p.Gly10Asp Single submitter argininosuccinic aciduria ⚠
p.Gly134Ser Single submitter argininosuccinic aciduria ⚠
p.Gly392Glu Single submitter ⚠
p.Gly431Trp Single submitter Inborn genetic diseases ⚠
p.Gly77= Single submitter argininosuccinic aciduria
p.Gly77Arg Single submitter argininosuccinic aciduria ⚠
p.His160Asn Single submitter ⚠
p.Ile28Thr Single submitter Inborn genetic diseases ⚠
p.Ile350Thr Single submitter argininosuccinic aciduria ⚠
p.Leu135Arg Single submitter argininosuccinic aciduria ⚠
p.Leu174Pro Single submitter argininosuccinic aciduria ⚠
p.Leu216Phe Single submitter ⚠
p.Leu248Pro Single submitter Inborn genetic diseases ⚠
p.Leu253Pro Single submitter ⚠
p.Leu260His Single submitter Inborn genetic diseases ⚠
p.Leu310Phe Single submitter argininosuccinic aciduria ⚠
p.Leu343Phe Single submitter ⚠
p.Leu49Met Single submitter argininosuccinic aciduria ⚠
p.Leu96Pro Single submitter argininosuccinic aciduria ⚠
p.Lys315Arg Single submitter argininosuccinic aciduria ⚠
p.Lys401Glu Single submitter Inborn genetic diseases ⚠
p.Lys97= Single submitter argininosuccinic aciduria
p.Met230Leu Single submitter ⚠
p.Met250Val Single submitter argininosuccinic aciduria ⚠
p.Met368Val Single submitter argininosuccinic aciduria ⚠
p.Phe238Tyr Single submitter argininosuccinic aciduria ⚠
p.Phe333Ser Single submitter ⚠
p.Pro156Ser Single submitter ⚠
p.Ser130Pro Single submitter argininosuccinic aciduria ⚠
p.Ser133Leu Single submitter argininosuccinic aciduria ⚠
p.Ser133Trp Single submitter argininosuccinic aciduria ⚠
p.Ser229Arg Single submitter ⚠
p.Ser298Ile Single submitter ⚠
p.Ser417Arg Single submitter ⚠
p.Ser417Asn Single submitter argininosuccinic aciduria ⚠
p.Ser421Leu Single submitter argininosuccinic aciduria ⚠
p.Ser447Arg Single submitter ⚠
p.Thr109Met Single submitter argininosuccinic aciduria ⚠
p.Thr142Ser Single submitter Inborn genetic diseases ⚠
p.Thr233Pro Single submitter argininosuccinic aciduria ⚠
p.Thr233Ser Single submitter argininosuccinic aciduria ⚠
p.Thr347Ile Single submitter argininosuccinic aciduria ⚠
p.Thr352Met Single submitter argininosuccinic aciduria ⚠
p.Thr90Lys Single submitter argininosuccinic aciduria ⚠
p.Tyr376Cys Single submitter argininosuccinic aciduria ⚠
p.Val239= Single submitter argininosuccinic aciduria
p.Val303Met Single submitter argininosuccinic aciduria ⚠
p.Val342= Single submitter argininosuccinic aciduria
p.Val39Phe Single submitter argininosuccinic aciduria ⚠
p.Val403Phe Single submitter argininosuccinic aciduria ⚠
p.Val427Met Single submitter argininosuccinic aciduria ⚠
p.Val434Gly Single submitter ⚠
p.Val455Gly Single submitter Inborn genetic diseases ⚠
c.1063-5C>T No assertion criteria argininosuccinic aciduria
c.1250+3A>G No assertion criteria argininosuccinic aciduria
c.525-3C>T No assertion criteria argininosuccinic aciduria
c.603-5T>G No assertion criteria argininosuccinic aciduria
c.-6C>T No assertion criteria argininosuccinic aciduria
p.Ala16Val No assertion criteria argininosuccinic aciduria ⚠
p.Ala240Val No assertion criteria argininosuccinic aciduria ⚠
p.Asn406His No assertion criteria argininosuccinic aciduria ⚠
p.Gln127His No assertion criteria ASL-related disorder ⚠
p.Gln162Arg No assertion criteria argininosuccinic aciduria ⚠
p.Gly316Arg No assertion criteria argininosuccinic aciduria ⚠
p.His388Gln No assertion criteria argininosuccinic aciduria ⚠
p.Ile261= No assertion criteria argininosuccinic aciduria
p.Leu136Pro No assertion criteria ASL-related disorder ⚠
p.Leu188Pro No assertion criteria argininosuccinic aciduria ⚠
p.Leu262Pro No assertion criteria argininosuccinic aciduria ⚠
p.Leu64= No assertion criteria argininosuccinic aciduria
p.Leu67= No assertion criteria argininosuccinic aciduria
p.Leu8= No assertion criteria argininosuccinic aciduria
p.Phe304= No assertion criteria argininosuccinic aciduria
p.Pro166Thr No assertion criteria argininosuccinic aciduria ⚠
p.Pro208Ser No assertion criteria ASL-related disorder ⚠
p.Ser184Phe No assertion criteria argininosuccinic aciduria ⚠
p.Ser229Thr No assertion criteria argininosuccinic aciduria ⚠
p.Ser319Asn No assertion criteria argininosuccinic aciduria ⚠
p.Val14Met No assertion criteria argininosuccinic aciduria ⚠
p.Val395Leu No assertion criteria argininosuccinic aciduria ⚠