SUOX — 489 ClinVar variants

All ClinVar germline SUOX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 198 flagged for review →

47 Pathogenic · 10 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 23 Conflicting · 5 Benign · 4 Benign/Likely benign · 176 Likely benign · 205 Uncertain significance

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

⚑ Evidence disagreements 198

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.

SUOX p.Arg459Gln Pathogenic/Likely pathogenic Multiple submitters
Sulfocysteinuria
SUOX p.Pro200Leu Likely pathogenic Single submitter
isolated sulfite oxidase deficiency

Predictors agree, ClinVar conflicts 12

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

SUOX p.Ala7Thr Conflicting Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg217Trp Conflicting Single submitter
Inborn genetic diseases
SUOX p.Arg268Gln Conflicting Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg366Cys Conflicting Single submitter
Sulfocysteinuria
SUOX p.Arg376Cys Conflicting Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg76Ser Conflicting Single submitter
isolated sulfite oxidase deficiency
SUOX p.Asp461Val Conflicting Single submitter
isolated sulfite oxidase deficiency
SUOX p.Gly266Ser Conflicting Single submitter
isolated sulfite oxidase deficiency
SUOX p.His118Tyr Conflicting Single submitter
Inborn genetic diseases
SUOX p.Ser323Leu Conflicting Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ser463Phe Conflicting Single submitter
isolated sulfite oxidase deficiency
SUOX p.Val443Leu Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 135

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

SUOX p.Ala314Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Arg182Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Arg182His Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Arg182Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Arg398Gln Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Arg433Gln Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Arg489His Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Arg529Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Arg74Trp Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Cys30Ser Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Gln274His Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Glu163Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Glu410Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Glu436Lys Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Gly65Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.His540Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Ile21Val Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Ile84Val Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Leu225Val Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Leu245Pro Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Leu528Pro Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Lys494Glu Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Pro388Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Thr60Ile Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Tyr392Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Tyr542Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Val234Ile Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Val275Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Val522Met Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Val67Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Ala138Gly Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ala138Ser Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ala138Val Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ala167Thr Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Ala177Gly Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ala265Asp Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ala291Val Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ala294Asp Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ala375Asp Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg149His Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg192Gln Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg269Cys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg269His Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg269Pro Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg292Cys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg292His Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg338Gln Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg376His Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg397Gln Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg40Cys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg481Cys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg481His Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg489Cys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg538Gly Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg538His Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg74Gln Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Asn161Lys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Asn224Lys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Asp116Ala Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Asp415Asn Uncertain significance Single submitter
SUOX p.Asp476Glu Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Asp476His Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Cys75Gly Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Gln14Lys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Gln501Lys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Gln518Arg Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Gln79His Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Glu159Lys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Glu171Asp Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Glu311Lys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Glu436Asp Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Glu439Lys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Glu478Asp Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Gly130Ala Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Gly131Ser Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Gly295Ala Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Gly382Ser Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Gly477Arg Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Gly47Asp Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Gly54Arg Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Gly54Glu Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Gly65Asp Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Gly99Arg Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.His147Tyr Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.His183Gln Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.His73Arg Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.His83Asn Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.His83Pro Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ile445Thr Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ile445Val Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ile506Val Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Ile525Val Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Leu10Pro Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Leu262Pro Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Leu347Pro Uncertain significance Single submitter
SUOX p.Leu348Gln Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Leu62Phe Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Lys156Asn Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Lys156Met Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Lys379Gln Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Met340Leu Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Met340Val Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Met352Ile Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Phe109Ser Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Phe403Leu Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Pro122Ala Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Pro162Leu Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Pro200Ala Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Pro238Leu Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Pro364Leu Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Pro432Ser Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Pro496Arg Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Pro496Ser Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Ser323Ala Uncertain significance Single submitter
SUOX p.Ser404Pro Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ser440Pro Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Thr172Ala Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Thr32Ile Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Thr94Ala Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Trp137Arg Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Tyr140Cys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Tyr230Ser Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Tyr330Cys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Tyr392Asn Uncertain significance Single submitter
SUOX p.Tyr392Asp Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Val142Ile Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Val148Ala Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Val148Met Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Val166Ile Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Val181Ala Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Val181Leu Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Val460Met Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Val522Ala Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Val8Ala Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Lys401Glu Uncertain significance No assertion criteria
isolated sulfite oxidase deficiency

Predictors split 49

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

SUOX p.Ala305Thr Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Arg297Trp Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Arg338Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SUOX p.Arg433Trp Likely benign Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Gly105Ser Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Ile157Thr Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Phe194Leu Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Val316Ile Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Val511Met Uncertain significance Multiple submitters
isolated sulfite oxidase deficiency
SUOX p.Ala129Thr Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ala153Pro Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Ala265Thr Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ala339Val Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ala495Gly Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg192Trp Conflicting Single submitter
Inborn genetic diseases
SUOX p.Arg231Cys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg297Gln Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg397Trp Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg398Trp Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Arg538Cys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Asn144Ser Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Asp324Glu Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Asp399Tyr Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Asp465Asn Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Cys317Phe Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Gln501Pro Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Glu257Lys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Glu442Lys Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Gly236Glu Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Gly239Ala Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Gly441Arg Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Leu245Phe Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Leu247Met Conflicting Single submitter
isolated sulfite oxidase deficiency
SUOX p.Leu423Pro Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Lys401Arg Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Pro199Ala Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Pro199Leu Likely benign Single submitter
isolated sulfite oxidase deficiency
SUOX p.Pro210Ser Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ser385Asn Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Ser416Phe Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Thr290Ala Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Thr328Ile Conflicting Single submitter
isolated sulfite oxidase deficiency
SUOX p.Tyr207Asp Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Tyr85His Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Val222Ile Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Val234Leu Uncertain significance Single submitter
Inborn genetic diseases
SUOX p.Val365Met Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Val367Leu Uncertain significance Single submitter
isolated sulfite oxidase deficiency
SUOX p.Val386Met Uncertain significance Single submitter
isolated sulfite oxidase deficiency

All SUOX variants

Pathogenic 47

p.Asn49delinsArgTer Multiple submitters isolated sulfite oxidase deficiency
p.Tyr400Ter Multiple submitters SUOX-related disorder
p.Val142fs Multiple submitters isolated sulfite oxidase deficiency
p.Ala128fs Single submitter isolated sulfite oxidase deficiency
p.Ala349_Tyr350insTer Single submitter isolated sulfite oxidase deficiency
p.Arg17fs Single submitter isolated sulfite oxidase deficiency
p.Arg182fs Single submitter isolated sulfite oxidase deficiency
p.Arg268Ter Single submitter isolated sulfite oxidase deficiency
p.Arg366fs Single submitter isolated sulfite oxidase deficiency
p.Asn33fs Single submitter isolated sulfite oxidase deficiency
p.Asp461fs Single submitter isolated sulfite oxidase deficiency
p.Asp48Ter Single submitter isolated sulfite oxidase deficiency
p.Asp72fs Single submitter isolated sulfite oxidase deficiency
p.Cys30Ter Single submitter isolated sulfite oxidase deficiency
p.Cys508fs Single submitter isolated sulfite oxidase deficiency
p.Cys75fs Single submitter isolated sulfite oxidase deficiency
p.Gln13Ter Single submitter isolated sulfite oxidase deficiency
p.Gln145fs Single submitter isolated sulfite oxidase deficiency
p.Gln154Ter Single submitter isolated sulfite oxidase deficiency
p.Gln191fs Single submitter isolated sulfite oxidase deficiency
p.Gln241Ter Single submitter isolated sulfite oxidase deficiency
p.Gln39Ter Single submitter isolated sulfite oxidase deficiency
p.Gln471fs Single submitter isolated sulfite oxidase deficiency
p.Gln518Ter Single submitter isolated sulfite oxidase deficiency
p.Glu442fs Single submitter isolated sulfite oxidase deficiency
p.Gly240fs Single submitter isolated sulfite oxidase deficiency
p.Gly306fs Single submitter isolated sulfite oxidase deficiency
p.Gly374fs Single submitter isolated sulfite oxidase deficiency
p.Leu151Ter Single submitter isolated sulfite oxidase deficiency
p.Lys156Ter Single submitter isolated sulfite oxidase deficiency
p.Pro122fs Single submitter isolated sulfite oxidase deficiency
p.Pro200fs Single submitter isolated sulfite oxidase deficiency
p.Pro358fs Single submitter isolated sulfite oxidase deficiency
p.Pro370fs Single submitter isolated sulfite oxidase deficiency
p.Ser23fs Single submitter isolated sulfite oxidase deficiency
p.Ser81_Thr82insTer Single submitter isolated sulfite oxidase deficiency
p.Thr469fs Single submitter isolated sulfite oxidase deficiency
p.Trp283Ter Single submitter isolated sulfite oxidase deficiency
p.Trp450Ter Single submitter isolated sulfite oxidase deficiency
p.Trp488Ter Single submitter isolated sulfite oxidase deficiency
p.Trp526Ter Single submitter isolated sulfite oxidase deficiency
p.Tyr207Ter Single submitter isolated sulfite oxidase deficiency
p.Tyr515Ter Single submitter isolated sulfite oxidase deficiency
p.Tyr70fs Single submitter isolated sulfite oxidase deficiency
p.Tyr85_Thr86insTer Single submitter isolated sulfite oxidase deficiency
p.Val412fs Single submitter isolated sulfite oxidase deficiency
p.Leu302Ter No assertion criteria isolated sulfite oxidase deficiency

Pathogenic/Likely pathogenic 10

c.228+1G>A Multiple submitters isolated sulfite oxidase deficiency
p.Arg217Gln Multiple submitters SUOX-related disorder
p.Arg366His Multiple submitters isolated sulfite oxidase deficiency
p.Arg40fs Multiple submitters isolated sulfite oxidase deficiency
p.Arg459Gln Multiple submitters Sulfocysteinuria ⚠
p.Gln426Ter Multiple submitters isolated sulfite oxidase deficiency
p.Gly362Ser Multiple submitters isolated sulfite oxidase deficiency
p.Leu281fs Multiple submitters Inborn genetic diseases
p.Trp101Ter Multiple submitters isolated sulfite oxidase deficiency
p.Val438fs Multiple submitters isolated sulfite oxidase deficiency

Likely pathogenic 19

c.51-2A>C Multiple submitters isolated sulfite oxidase deficiency
p.Asp174fs Multiple submitters isolated sulfite oxidase deficiency
p.Asp512Tyr Multiple submitters isolated sulfite oxidase deficiency
p.Lys379Arg Multiple submitters isolated sulfite oxidase deficiency
c.51-1del Single submitter isolated sulfite oxidase deficiency
p.Arg459Trp Single submitter isolated sulfite oxidase deficiency
p.Arg529Ter Single submitter isolated sulfite oxidase deficiency
p.Asp461Gly Single submitter isolated sulfite oxidase deficiency
p.Glu271Ter Single submitter isolated sulfite oxidase deficiency
p.Gly295Glu Single submitter Sulfocysteinuria
p.Gly530Asp Single submitter Sulfocysteinuria
p.His233fs Single submitter SUOX-related disorder
p.Pro200Leu Single submitter isolated sulfite oxidase deficiency ⚠
p.Pro519Arg Single submitter
p.Ser385fs Single submitter SUOX-related disorder
p.Tyr176Ter Single submitter isolated sulfite oxidase deficiency
p.Tyr256Ter Single submitter Sulfocysteinuria
p.Glu159Ter No assertion criteria isolated sulfite oxidase deficiency
p.Val111Asp No assertion criteria isolated sulfite oxidase deficiency

Conflicting classifications of pathogenicity 23

c.228+2_228+10del Single submitter isolated sulfite oxidase deficiency
c.50+9G>A Single submitter isolated sulfite oxidase deficiency
c.51-14G>A Single submitter isolated sulfite oxidase deficiency
p.Ala7Thr Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg192Trp Single submitter Inborn genetic diseases ⚠
p.Arg217Trp Single submitter Inborn genetic diseases ⚠
p.Arg268Gln Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg366Cys Single submitter Sulfocysteinuria ⚠
p.Arg376Cys Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg76Ser Single submitter isolated sulfite oxidase deficiency ⚠
p.Asp461Val Single submitter isolated sulfite oxidase deficiency ⚠
p.Gly266Ser Single submitter isolated sulfite oxidase deficiency ⚠
p.His118Tyr Single submitter Inborn genetic diseases ⚠
p.His93= Single submitter isolated sulfite oxidase deficiency
p.Leu247Met Single submitter isolated sulfite oxidase deficiency ⚠
p.Leu464fs Single submitter isolated sulfite oxidase deficiency
p.Leu64= Single submitter isolated sulfite oxidase deficiency
p.Lys379= Single submitter isolated sulfite oxidase deficiency
p.Ser323Leu Single submitter isolated sulfite oxidase deficiency ⚠
p.Ser463Phe Single submitter isolated sulfite oxidase deficiency ⚠
p.Thr328Ile Single submitter isolated sulfite oxidase deficiency ⚠
p.Tyr207= Single submitter isolated sulfite oxidase deficiency
p.Val443Leu Single submitter Inborn genetic diseases ⚠

Benign 5

c.228+268A>G Multiple submitters
p.Ser427= Multiple submitters isolated sulfite oxidase deficiency
c.-107C>T Single submitter isolated sulfite oxidase deficiency
c.-32C>T Single submitter isolated sulfite oxidase deficiency
p.Thr326Asn Single submitter isolated sulfite oxidase deficiency

Benign/Likely benign 4

p.Arg40His Multiple submitters isolated sulfite oxidase deficiency
p.Gly453Asp Multiple submitters isolated sulfite oxidase deficiency
p.Pro210Leu Multiple submitters isolated sulfite oxidase deficiency
p.Tyr350= Multiple submitters isolated sulfite oxidase deficiency

Likely benign 176

c.229-15C>T Multiple submitters isolated sulfite oxidase deficiency
c.-326A>T Multiple submitters isolated sulfite oxidase deficiency
p.Arg433Trp Multiple submitters isolated sulfite oxidase deficiency ⚠
p.His233= Multiple submitters isolated sulfite oxidase deficiency
p.His251Tyr Multiple submitters Inborn genetic diseases
p.Ile445= Multiple submitters isolated sulfite oxidase deficiency
p.Val373= Multiple submitters isolated sulfite oxidase deficiency
p.Val8= Multiple submitters isolated sulfite oxidase deficiency
c.228+12A>G Single submitter isolated sulfite oxidase deficiency
c.228+13A>C Single submitter isolated sulfite oxidase deficiency
c.228+13A>G Single submitter isolated sulfite oxidase deficiency
c.228+16G>A Single submitter isolated sulfite oxidase deficiency
c.228+9G>C Single submitter isolated sulfite oxidase deficiency
c.229-10C>T Single submitter
c.229-11C>T Single submitter isolated sulfite oxidase deficiency
c.229-13_229-11del Single submitter isolated sulfite oxidase deficiency
c.229-13T>C Single submitter isolated sulfite oxidase deficiency
c.229-14T>C Single submitter isolated sulfite oxidase deficiency
c.229-16C>A Single submitter
c.229-16C>T Single submitter isolated sulfite oxidase deficiency
c.229-18C>T Single submitter isolated sulfite oxidase deficiency
c.229-5A>G Single submitter isolated sulfite oxidase deficiency
c.50+11C>G Single submitter isolated sulfite oxidase deficiency
c.50+13A>G Single submitter isolated sulfite oxidase deficiency
c.50+15C>T Single submitter isolated sulfite oxidase deficiency
c.50+18A>G Single submitter isolated sulfite oxidase deficiency
c.50+20G>C Single submitter isolated sulfite oxidase deficiency
c.50+9G>T Single submitter isolated sulfite oxidase deficiency
c.51-14G>C Single submitter isolated sulfite oxidase deficiency
c.51-15C>A Single submitter isolated sulfite oxidase deficiency
c.51-15C>T Single submitter isolated sulfite oxidase deficiency
c.51-16C>T Single submitter isolated sulfite oxidase deficiency
c.51-17A>G Single submitter isolated sulfite oxidase deficiency
c.51-18G>A Single submitter isolated sulfite oxidase deficiency
c.51-7C>T Single submitter isolated sulfite oxidase deficiency
c.-11+1604T>G Single submitter isolated sulfite oxidase deficiency
c.-11+1613C>T Single submitter isolated sulfite oxidase deficiency
p.Ala138= Single submitter isolated sulfite oxidase deficiency
p.Ala167= Single submitter isolated sulfite oxidase deficiency
p.Ala237= Single submitter isolated sulfite oxidase deficiency
p.Ala265= Single submitter isolated sulfite oxidase deficiency
p.Ala29= Single submitter isolated sulfite oxidase deficiency
p.Ala339= Single submitter isolated sulfite oxidase deficiency
p.Ala344= Single submitter isolated sulfite oxidase deficiency
p.Ala349= Single submitter isolated sulfite oxidase deficiency
p.Ala449= Single submitter isolated sulfite oxidase deficiency
p.Ala456= Single submitter isolated sulfite oxidase deficiency
p.Ala487= Single submitter isolated sulfite oxidase deficiency
p.Ala535= Single submitter isolated sulfite oxidase deficiency
p.Arg192= Single submitter isolated sulfite oxidase deficiency
p.Arg217= Single submitter isolated sulfite oxidase deficiency
p.Arg231= Single submitter isolated sulfite oxidase deficiency
p.Arg24= Single submitter isolated sulfite oxidase deficiency
p.Arg338= Single submitter isolated sulfite oxidase deficiency
p.Arg459= Single submitter isolated sulfite oxidase deficiency
p.Arg481= Single submitter isolated sulfite oxidase deficiency
p.Arg489= Single submitter isolated sulfite oxidase deficiency
p.Asn189= Single submitter isolated sulfite oxidase deficiency
p.Asn206= Single submitter isolated sulfite oxidase deficiency
p.Asn224= Single submitter isolated sulfite oxidase deficiency
p.Asn252= Single submitter isolated sulfite oxidase deficiency
p.Asn49= Single submitter isolated sulfite oxidase deficiency
p.Asn505= Single submitter isolated sulfite oxidase deficiency
p.Asn516= Single submitter isolated sulfite oxidase deficiency
p.Asp164= Single submitter isolated sulfite oxidase deficiency
p.Asp228= Single submitter isolated sulfite oxidase deficiency
p.Asp324= Single submitter isolated sulfite oxidase deficiency
p.Asp408= Single submitter isolated sulfite oxidase deficiency
p.Asp72= Single submitter isolated sulfite oxidase deficiency
p.Cys317= Single submitter isolated sulfite oxidase deficiency
p.Gln13= Single submitter isolated sulfite oxidase deficiency
p.Gln14= Single submitter isolated sulfite oxidase deficiency
p.Gln387= Single submitter isolated sulfite oxidase deficiency
p.Gln396= Single submitter isolated sulfite oxidase deficiency
p.Gln471= Single submitter isolated sulfite oxidase deficiency
p.Gln518= Single submitter isolated sulfite oxidase deficiency
p.Gln53= Single submitter isolated sulfite oxidase deficiency
p.Glu150= Single submitter isolated sulfite oxidase deficiency
p.Glu319= Single submitter isolated sulfite oxidase deficiency
p.Glu345= Single submitter isolated sulfite oxidase deficiency
p.Glu436= Single submitter isolated sulfite oxidase deficiency
p.Glu80= Single submitter isolated sulfite oxidase deficiency
p.Gly105= Single submitter isolated sulfite oxidase deficiency
p.Gly121= Single submitter isolated sulfite oxidase deficiency
p.Gly131= Single submitter isolated sulfite oxidase deficiency
p.Gly286= Single submitter isolated sulfite oxidase deficiency
p.Gly327= Single submitter isolated sulfite oxidase deficiency
p.Gly435= Single submitter isolated sulfite oxidase deficiency
p.Gly47= Single submitter isolated sulfite oxidase deficiency
p.Gly54= Single submitter isolated sulfite oxidase deficiency
p.Gly59= Single submitter
p.Gly63Ser Single submitter isolated sulfite oxidase deficiency
p.His143= Single submitter isolated sulfite oxidase deficiency
p.His147= Single submitter isolated sulfite oxidase deficiency
p.His315= Single submitter isolated sulfite oxidase deficiency
p.His361= Single submitter isolated sulfite oxidase deficiency
p.His540= Single submitter isolated sulfite oxidase deficiency
p.His83= Single submitter isolated sulfite oxidase deficiency
p.Ile100= Single submitter isolated sulfite oxidase deficiency
p.Ile27= Single submitter isolated sulfite oxidase deficiency
p.Leu125= Single submitter isolated sulfite oxidase deficiency
p.Leu127= Single submitter isolated sulfite oxidase deficiency
p.Leu133= Single submitter isolated sulfite oxidase deficiency
p.Leu139= Single submitter isolated sulfite oxidase deficiency
p.Leu152= Single submitter isolated sulfite oxidase deficiency
p.Leu160= Single submitter isolated sulfite oxidase deficiency
p.Leu186= Single submitter isolated sulfite oxidase deficiency
p.Leu220= Single submitter isolated sulfite oxidase deficiency
p.Leu247= Single submitter isolated sulfite oxidase deficiency
p.Leu250= Single submitter isolated sulfite oxidase deficiency
p.Leu262= Single submitter isolated sulfite oxidase deficiency
p.Leu336= Single submitter isolated sulfite oxidase deficiency
p.Leu348= Single submitter isolated sulfite oxidase deficiency
p.Leu381= Single submitter isolated sulfite oxidase deficiency
p.Leu504= Single submitter isolated sulfite oxidase deficiency
p.Lys124= Single submitter isolated sulfite oxidase deficiency
p.Lys484= Single submitter isolated sulfite oxidase deficiency
p.Lys509= Single submitter isolated sulfite oxidase deficiency
p.Phe214= Single submitter isolated sulfite oxidase deficiency
p.Pro122= Single submitter isolated sulfite oxidase deficiency
p.Pro132= Single submitter isolated sulfite oxidase deficiency
p.Pro184= Single submitter isolated sulfite oxidase deficiency
p.Pro199= Single submitter isolated sulfite oxidase deficiency
p.Pro199Leu Single submitter isolated sulfite oxidase deficiency ⚠
p.Pro200= Single submitter isolated sulfite oxidase deficiency
p.Pro210= Single submitter isolated sulfite oxidase deficiency
p.Pro227= Single submitter isolated sulfite oxidase deficiency
p.Pro335= Single submitter isolated sulfite oxidase deficiency
p.Pro388= Single submitter isolated sulfite oxidase deficiency
p.Pro418= Single submitter isolated sulfite oxidase deficiency
p.Pro498= Single submitter isolated sulfite oxidase deficiency
p.Pro96= Single submitter isolated sulfite oxidase deficiency
p.Ser123= Single submitter isolated sulfite oxidase deficiency
p.Ser146Pro Single submitter Inborn genetic diseases
p.Ser246= Single submitter isolated sulfite oxidase deficiency
p.Ser385= Single submitter isolated sulfite oxidase deficiency
p.Ser391= Single submitter isolated sulfite oxidase deficiency
p.Ser406= Single submitter isolated sulfite oxidase deficiency
p.Ser440= Single submitter isolated sulfite oxidase deficiency
p.Ser50= Single submitter isolated sulfite oxidase deficiency
p.Ser51= Single submitter isolated sulfite oxidase deficiency
p.Ser544= Single submitter isolated sulfite oxidase deficiency
p.Thr169= Single submitter isolated sulfite oxidase deficiency
p.Thr209= Single submitter isolated sulfite oxidase deficiency
p.Thr259= Single submitter isolated sulfite oxidase deficiency
p.Thr273= Single submitter isolated sulfite oxidase deficiency
p.Thr290= Single submitter isolated sulfite oxidase deficiency
p.Thr328= Single submitter isolated sulfite oxidase deficiency
p.Thr411= Single submitter isolated sulfite oxidase deficiency
p.Thr430= Single submitter isolated sulfite oxidase deficiency
p.Thr469= Single submitter isolated sulfite oxidase deficiency
p.Thr52= Single submitter isolated sulfite oxidase deficiency
p.Thr521= Single submitter isolated sulfite oxidase deficiency
p.Thr82= Single submitter isolated sulfite oxidase deficiency
p.Thr94= Single submitter isolated sulfite oxidase deficiency
p.Thr98= Single submitter isolated sulfite oxidase deficiency
p.Tyr256= Single submitter isolated sulfite oxidase deficiency
p.Tyr392= Single submitter isolated sulfite oxidase deficiency
p.Tyr400= Single submitter isolated sulfite oxidase deficiency
p.Tyr448= Single submitter isolated sulfite oxidase deficiency
p.Tyr85= Single submitter isolated sulfite oxidase deficiency
p.Val188= Single submitter isolated sulfite oxidase deficiency
p.Val301= Single submitter isolated sulfite oxidase deficiency
p.Val316= Single submitter isolated sulfite oxidase deficiency
p.Val346= Single submitter isolated sulfite oxidase deficiency
p.Val365= Single submitter isolated sulfite oxidase deficiency
p.Val372= Single submitter isolated sulfite oxidase deficiency
p.Val378= Single submitter isolated sulfite oxidase deficiency
p.Val438= Single submitter isolated sulfite oxidase deficiency
p.Val443= Single submitter isolated sulfite oxidase deficiency
p.Val497= Single submitter isolated sulfite oxidase deficiency
p.Val511= Single submitter isolated sulfite oxidase deficiency
p.Val522= Single submitter isolated sulfite oxidase deficiency
p.Val531= Single submitter isolated sulfite oxidase deficiency
p.Val541= Single submitter isolated sulfite oxidase deficiency
p.Val90= Single submitter isolated sulfite oxidase deficiency

Uncertain significance 205

c.51-10T>A Multiple submitters isolated sulfite oxidase deficiency
p.Ala305Thr Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Ala314Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg182Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg182His Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Arg182Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg297Trp Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Arg338Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg398Gln Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Arg433Gln Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Arg489His Multiple submitters Inborn genetic diseases ⚠
p.Arg529Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg74Trp Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Cys30Ser Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Gln274His Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Glu163Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu410Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu436Lys Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Gly105Ser Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Gly65Ser Multiple submitters Inborn genetic diseases ⚠
p.His540Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile157Thr Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Ile21Val Multiple submitters Inborn genetic diseases ⚠
p.Ile84Val Multiple submitters Inborn genetic diseases ⚠
p.Leu225Val Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Leu245Pro Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Leu528Pro Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Lys494Glu Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Phe194Leu Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Pro388Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser23del Multiple submitters isolated sulfite oxidase deficiency
p.Thr60Ile Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Tyr392Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr542Cys Multiple submitters Inborn genetic diseases ⚠
p.Val234Ile Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Val275Ile Multiple submitters Inborn genetic diseases ⚠
p.Val316Ile Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Val511Met Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Val522Met Multiple submitters isolated sulfite oxidase deficiency ⚠
p.Val67Leu Multiple submitters Inborn genetic diseases ⚠
c.50+5G>A Single submitter isolated sulfite oxidase deficiency
c.-11+1672T>A Single submitter isolated sulfite oxidase deficiency
c.-11+1723G>A Single submitter isolated sulfite oxidase deficiency
c.-129A>G Single submitter isolated sulfite oxidase deficiency
c.-25G>C Single submitter isolated sulfite oxidase deficiency
c.-322C>T Single submitter isolated sulfite oxidase deficiency
c.-58C>A Single submitter isolated sulfite oxidase deficiency
c.-85G>A Single submitter isolated sulfite oxidase deficiency
c.*155C>T Single submitter isolated sulfite oxidase deficiency
c.*187G>T Single submitter isolated sulfite oxidase deficiency
c.*26C>G Single submitter isolated sulfite oxidase deficiency
c.*311A>G Single submitter isolated sulfite oxidase deficiency
c.*355T>C Single submitter isolated sulfite oxidase deficiency
c.*369G>A Single submitter isolated sulfite oxidase deficiency
c.*479T>C Single submitter isolated sulfite oxidase deficiency
c.*47A>C Single submitter isolated sulfite oxidase deficiency
c.*496T>C Single submitter isolated sulfite oxidase deficiency
c.*504G>C Single submitter isolated sulfite oxidase deficiency
p.Ala129Thr Single submitter isolated sulfite oxidase deficiency ⚠
p.Ala138Gly Single submitter isolated sulfite oxidase deficiency ⚠
p.Ala138Ser Single submitter isolated sulfite oxidase deficiency ⚠
p.Ala138Val Single submitter isolated sulfite oxidase deficiency ⚠
p.Ala153Pro Single submitter Inborn genetic diseases ⚠
p.Ala167Thr Single submitter Inborn genetic diseases ⚠
p.Ala177Gly Single submitter isolated sulfite oxidase deficiency ⚠
p.Ala265Asp Single submitter isolated sulfite oxidase deficiency ⚠
p.Ala265Thr Single submitter isolated sulfite oxidase deficiency ⚠
p.Ala291Val Single submitter isolated sulfite oxidase deficiency ⚠
p.Ala294Asp Single submitter isolated sulfite oxidase deficiency ⚠
p.Ala339Val Single submitter isolated sulfite oxidase deficiency ⚠
p.Ala375Asp Single submitter isolated sulfite oxidase deficiency ⚠
p.Ala428Pro Single submitter isolated sulfite oxidase deficiency
p.Ala428Thr Single submitter isolated sulfite oxidase deficiency
p.Ala495Gly Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg149His Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg192Gln Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg231Cys Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg269Cys Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg269His Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg269Pro Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg292Cys Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg292His Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg297Gln Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg338Gln Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg376His Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg397Gln Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg397Trp Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg398Trp Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg40Cys Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg481Cys Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg481His Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg489Cys Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg538Cys Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg538Gly Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg538His Single submitter isolated sulfite oxidase deficiency ⚠
p.Arg74Gln Single submitter isolated sulfite oxidase deficiency ⚠
p.Asn144Ser Single submitter isolated sulfite oxidase deficiency ⚠
p.Asn161Lys Single submitter isolated sulfite oxidase deficiency ⚠
p.Asn224Lys Single submitter isolated sulfite oxidase deficiency ⚠
p.Asp116Ala Single submitter isolated sulfite oxidase deficiency ⚠
p.Asp324Glu Single submitter isolated sulfite oxidase deficiency ⚠
p.Asp399Tyr Single submitter isolated sulfite oxidase deficiency ⚠
p.Asp415Asn Single submitter ⚠
p.Asp465Asn Single submitter isolated sulfite oxidase deficiency ⚠
p.Asp476Glu Single submitter isolated sulfite oxidase deficiency ⚠
p.Asp476His Single submitter isolated sulfite oxidase deficiency ⚠
p.Cys317Phe Single submitter Inborn genetic diseases ⚠
p.Cys75Gly Single submitter Inborn genetic diseases ⚠
p.Gln14Lys Single submitter isolated sulfite oxidase deficiency ⚠
p.Gln501Lys Single submitter isolated sulfite oxidase deficiency ⚠
p.Gln501Pro Single submitter isolated sulfite oxidase deficiency ⚠
p.Gln518Arg Single submitter isolated sulfite oxidase deficiency ⚠
p.Gln79His Single submitter isolated sulfite oxidase deficiency ⚠
p.Glu159Lys Single submitter isolated sulfite oxidase deficiency ⚠
p.Glu171Asp Single submitter isolated sulfite oxidase deficiency ⚠
p.Glu257Lys Single submitter isolated sulfite oxidase deficiency ⚠
p.Glu311Lys Single submitter isolated sulfite oxidase deficiency ⚠
p.Glu436Asp Single submitter isolated sulfite oxidase deficiency ⚠
p.Glu439Lys Single submitter isolated sulfite oxidase deficiency ⚠
p.Glu442Lys Single submitter isolated sulfite oxidase deficiency ⚠
p.Glu478Asp Single submitter isolated sulfite oxidase deficiency ⚠
p.Gly130Ala Single submitter Inborn genetic diseases ⚠
p.Gly131Ser Single submitter Inborn genetic diseases ⚠
p.Gly236Glu Single submitter isolated sulfite oxidase deficiency ⚠
p.Gly239Ala Single submitter isolated sulfite oxidase deficiency ⚠
p.Gly295Ala Single submitter isolated sulfite oxidase deficiency ⚠
p.Gly382Ser Single submitter Inborn genetic diseases ⚠
p.Gly441Arg Single submitter isolated sulfite oxidase deficiency ⚠
p.Gly477Arg Single submitter Inborn genetic diseases ⚠
p.Gly47Asp Single submitter isolated sulfite oxidase deficiency ⚠
p.Gly54Arg Single submitter isolated sulfite oxidase deficiency ⚠
p.Gly54Glu Single submitter isolated sulfite oxidase deficiency ⚠
p.Gly65Asp Single submitter isolated sulfite oxidase deficiency ⚠
p.Gly99Arg Single submitter isolated sulfite oxidase deficiency ⚠
p.His147Tyr Single submitter Inborn genetic diseases ⚠
p.His183Gln Single submitter Inborn genetic diseases ⚠
p.His73Arg Single submitter isolated sulfite oxidase deficiency ⚠
p.His83Asn Single submitter isolated sulfite oxidase deficiency ⚠
p.His83Pro Single submitter isolated sulfite oxidase deficiency ⚠
p.Ile445Thr Single submitter isolated sulfite oxidase deficiency ⚠
p.Ile445Val Single submitter isolated sulfite oxidase deficiency ⚠
p.Ile506Val Single submitter Inborn genetic diseases ⚠
p.Ile525Val Single submitter isolated sulfite oxidase deficiency ⚠
p.Leu10Pro Single submitter isolated sulfite oxidase deficiency ⚠
p.Leu245Phe Single submitter isolated sulfite oxidase deficiency ⚠
p.Leu262Pro Single submitter isolated sulfite oxidase deficiency ⚠
p.Leu347Pro Single submitter ⚠
p.Leu348Gln Single submitter isolated sulfite oxidase deficiency ⚠
p.Leu423Pro Single submitter isolated sulfite oxidase deficiency ⚠
p.Leu62Phe Single submitter isolated sulfite oxidase deficiency ⚠
p.Lys156Asn Single submitter Inborn genetic diseases ⚠
p.Lys156Met Single submitter Inborn genetic diseases ⚠
p.Lys379Gln Single submitter isolated sulfite oxidase deficiency ⚠
p.Lys401Arg Single submitter isolated sulfite oxidase deficiency ⚠
p.Met340Leu Single submitter isolated sulfite oxidase deficiency ⚠
p.Met340Val Single submitter isolated sulfite oxidase deficiency ⚠
p.Met352Ile Single submitter isolated sulfite oxidase deficiency ⚠
p.Phe109Ser Single submitter isolated sulfite oxidase deficiency ⚠
p.Phe403Leu Single submitter isolated sulfite oxidase deficiency ⚠
p.Pro122Ala Single submitter isolated sulfite oxidase deficiency ⚠
p.Pro162Leu Single submitter isolated sulfite oxidase deficiency ⚠
p.Pro199Ala Single submitter isolated sulfite oxidase deficiency ⚠
p.Pro200Ala Single submitter isolated sulfite oxidase deficiency ⚠
p.Pro210Ser Single submitter isolated sulfite oxidase deficiency ⚠
p.Pro238Leu Single submitter isolated sulfite oxidase deficiency ⚠
p.Pro364Leu Single submitter isolated sulfite oxidase deficiency ⚠
p.Pro432Ser Single submitter Inborn genetic diseases ⚠
p.Pro496Arg Single submitter isolated sulfite oxidase deficiency ⚠
p.Pro496Ser Single submitter Inborn genetic diseases ⚠
p.Ser323Ala Single submitter ⚠
p.Ser385Asn Single submitter isolated sulfite oxidase deficiency ⚠
p.Ser404Pro Single submitter isolated sulfite oxidase deficiency ⚠
p.Ser416Phe Single submitter isolated sulfite oxidase deficiency ⚠
p.Ser427Tyr Single submitter isolated sulfite oxidase deficiency
p.Ser440Pro Single submitter isolated sulfite oxidase deficiency ⚠
p.Ter546Arg Single submitter
p.Thr172Ala Single submitter isolated sulfite oxidase deficiency ⚠
p.Thr290Ala Single submitter isolated sulfite oxidase deficiency ⚠
p.Thr32Ile Single submitter isolated sulfite oxidase deficiency ⚠
p.Thr94Ala Single submitter isolated sulfite oxidase deficiency ⚠
p.Trp137Arg Single submitter Inborn genetic diseases ⚠
p.Trp450Gln Single submitter isolated sulfite oxidase deficiency
p.Tyr140Cys Single submitter isolated sulfite oxidase deficiency ⚠
p.Tyr207Asp Single submitter isolated sulfite oxidase deficiency ⚠
p.Tyr230Ser Single submitter isolated sulfite oxidase deficiency ⚠
p.Tyr330Cys Single submitter isolated sulfite oxidase deficiency ⚠
p.Tyr392Asn Single submitter ⚠
p.Tyr392Asp Single submitter isolated sulfite oxidase deficiency ⚠
p.Tyr85His Single submitter isolated sulfite oxidase deficiency ⚠
p.Val142Ile Single submitter isolated sulfite oxidase deficiency ⚠
p.Val148Ala Single submitter isolated sulfite oxidase deficiency ⚠
p.Val148Met Single submitter Inborn genetic diseases ⚠
p.Val166Ile Single submitter isolated sulfite oxidase deficiency ⚠
p.Val181Ala Single submitter isolated sulfite oxidase deficiency ⚠
p.Val181Leu Single submitter isolated sulfite oxidase deficiency ⚠
p.Val222Ile Single submitter Inborn genetic diseases ⚠
p.Val234Leu Single submitter Inborn genetic diseases ⚠
p.Val365Met Single submitter isolated sulfite oxidase deficiency ⚠
p.Val367Leu Single submitter isolated sulfite oxidase deficiency ⚠
p.Val386Met Single submitter isolated sulfite oxidase deficiency ⚠
p.Val460Met Single submitter isolated sulfite oxidase deficiency ⚠
p.Val522Ala Single submitter isolated sulfite oxidase deficiency ⚠
p.Val8Ala Single submitter isolated sulfite oxidase deficiency ⚠
p.Val90Leu Single submitter isolated sulfite oxidase deficiency
p.Lys401Glu No assertion criteria isolated sulfite oxidase deficiency ⚠