MOCS2 — 351 ClinVar variants
All ClinVar germline MOCS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
26 Pathogenic · 8 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 15 Conflicting · 28 Benign · 6 Benign/Likely benign · 129 Likely benign · 133 Uncertain significance
Full MOCS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MOCS2 p.Ala99Val
Conflicting
Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Glu25Gly
Conflicting
Single submitter
Inborn genetic diseases
-
MOCS2 p.Gly76Arg
Conflicting
Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.His123Tyr
Conflicting
Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Pro22Arg
Conflicting
Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Ser140Phe
Conflicting
Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency
Predictors lean, ClinVar uncertain 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MOCS2 p.Ala70Val
Uncertain significance
Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Asn81Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOCS2 p.Asp109Asn
Uncertain significance
Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Glu40Lys
Uncertain significance
Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Ile155Thr
Uncertain significance
Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Leu19Phe
Uncertain significance
Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Met36Thr
Uncertain significance
Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Pro22Ala
Uncertain significance
Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Thr175Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MOCS2 p.Ala145Pro Uncertain significance Single submitter
-
MOCS2 p.Ala150Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- MOCS2 p.Ala154Thr Uncertain significance Single submitter
- MOCS2 p.Ala160Val Uncertain significance Single submitter
- MOCS2 p.Ala28Thr Uncertain significance Single submitter
- MOCS2 p.Asn101Ser Uncertain significance Single submitter
- MOCS2 p.Asn80Ser Uncertain significance Single submitter
- MOCS2 p.Asp26Val Uncertain significance Single submitter
- MOCS2 p.Glu171Gly Uncertain significance Single submitter
- MOCS2 p.Glu172Gln Uncertain significance Single submitter
-
MOCS2 p.Glu41Asp
Uncertain significance
Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Glu52Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- MOCS2 p.Gly126Ala Uncertain significance Single submitter
- MOCS2 p.Gly69Asp Uncertain significance Single submitter
-
MOCS2 p.His118Arg
Uncertain significance
Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- MOCS2 p.His143Arg Uncertain significance Single submitter
-
MOCS2 p.Ile110Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MOCS2 p.Ile169Met Uncertain significance Single submitter
- MOCS2 p.Lys180Arg Uncertain significance Single submitter
- MOCS2 p.Met98Ile Uncertain significance Single submitter
- MOCS2 p.Phe11Leu Uncertain significance Single submitter
- MOCS2 p.Phe29Leu Uncertain significance Single submitter
- MOCS2 p.Pro115Leu Uncertain significance Single submitter
- MOCS2 p.Pro163Ser Uncertain significance Single submitter
- MOCS2 p.Ser108Gly Uncertain significance Single submitter
- MOCS2 p.Ser134Arg Uncertain significance Single submitter
- MOCS2 p.Ser20Phe Uncertain significance Single submitter
- MOCS2 p.Ser27Arg Uncertain significance Single submitter
- MOCS2 p.Ser43Tyr Uncertain significance Single submitter
-
MOCS2 p.Thr157Ile
Uncertain significance
Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Thr15Arg
Uncertain significance
Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- MOCS2 p.Thr50Ser Uncertain significance Single submitter
- MOCS2 p.Thr78Ile Uncertain significance Single submitter
- MOCS2 p.Trp165Arg Uncertain significance Single submitter
-
MOCS2 p.Tyr95Ser
Uncertain significance
Single submitter
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- MOCS2 p.Val130Gly Uncertain significance Single submitter
- MOCS2 p.Val46Ile Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
-
MOCS2 p.Glu171Lys
Uncertain significance
Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Glu52Lys
Uncertain significance
Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Pro66Leu
Uncertain significance
Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
-
MOCS2 p.Ser55Ala
Uncertain significance
Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- MOCS2 p.Thr50Ala Benign/Likely benign Multiple submitters
-
MOCS2 p.Thr77Ala
Benign
Multiple submitters
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- MOCS2 p.Asp57Tyr Uncertain significance Single submitter
- MOCS2 p.Glu149Ala Uncertain significance Single submitter
- MOCS2 p.Glu41Lys Uncertain significance Single submitter
- MOCS2 p.Ile137Met Uncertain significance Single submitter
- MOCS2 p.Leu54Val Uncertain significance Single submitter
- MOCS2 p.Phe82Val Uncertain significance Single submitter
- MOCS2 p.Pro21Ser Uncertain significance Single submitter
- MOCS2 p.Ser2Ala Uncertain significance Single submitter
- MOCS2 p.Ser9Trp Likely benign Single submitter
- MOCS2 p.Trp184Arg Uncertain significance Single submitter
- MOCS2 p.Tyr170Cys Uncertain significance Single submitter
- MOCS2 p.Tyr95Phe Uncertain significance Single submitter
-
MOCS2 p.Asp26His
Uncertain significance
No assertion criteria
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
All MOCS2 variants
Pathogenic 26
- p.Glu102Ter Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency
- p.His123fs Multiple submitters
- p.Leu23fs Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ser55Ter Multiple submitters
- p.Tyr11Ter Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency
- p.Val116fs Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Asn48Ter Single submitter
- p.Asp37fs Single submitter
- p.Asp45fs Single submitter
- p.Asp57fs Single submitter
- p.Gln36Ter Single submitter
- p.Glu172fs Single submitter
- p.Glu91Ter Single submitter
- p.Gly20fs Single submitter
- p.Ile135fs Single submitter
- p.Leu73fs Single submitter
- p.Met1Arg Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Met98fs Single submitter
- p.Phe49fs Single submitter
- p.Pro21fs Single submitter
- p.Ser23Ter Single submitter
- p.Ser55fs Single submitter
- p.Ser9fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Glu168Lys No assertion criteria sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Met1Ile No assertion criteria sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Val7Phe No assertion criteria sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
Pathogenic/Likely pathogenic 8
- c.377+1G>A Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Gln30Ter Multiple submitters MOCS2-related disorders
- p.Gln61fs Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Glu40Ter Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Lys180fs Multiple submitters MOCS2-related disorders
- p.Met36fs Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ter189Tyr Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Thr157fs Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
Likely pathogenic 6
- c.99-2A>G Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency
- p.Leu10fs Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Trp38Ter Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.-169-1G>A Single submitter
- c.-169-2A>G Single submitter
- p.Ser20fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
Conflicting classifications of pathogenicity 15
- c.*2045G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ala99Val Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Arg60Cys Single submitter Inborn genetic diseases
- p.Glu25Gly Single submitter Inborn genetic diseases ⚠
- p.Gly76Arg Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.His123Tyr Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Lys167fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Lys39= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Pro22Arg Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Ser140Phe Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency ⚠
- p.Ser15Arg Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ser20= Single submitter Inborn genetic diseases
- p.Ser9= Single submitter Inborn genetic diseases
- p.Thr15= Single submitter Inborn genetic diseases
- p.Val87= Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
Benign 28
- c.227-20_227-17dup Multiple submitters
- c.-48+40G>A Multiple submitters
- c.-48+65A>C Multiple submitters
- c.*1011G>A Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*1544C>A Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*1872C>T Multiple submitters platelet-type bleeding disorder 9
- c.*2032G>A Multiple submitters platelet-type bleeding disorder 9
- c.*2158C>T Multiple submitters platelet-type bleeding disorder 9
- c.*2415C>T Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*566C>T Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*735G>A Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Thr77Ala Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- c.227-106A>G Single submitter
- c.227-12del Single submitter
- c.227-201A>G Single submitter
- c.378-19del Single submitter
- c.378-19dup Single submitter
- c.378-76del Single submitter
- c.502-188del Single submitter
- c.-47-10del Single submitter
- c.-47-6del Single submitter
- c.-48+74_-48+75insAGT Single submitter
- c.*1673T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*2582A>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*2651G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*321A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*371C>T Single submitter
- c.*413del Single submitter
Benign/Likely benign 6
- c.*1913G>A Multiple submitters platelet-type bleeding disorder 9
- p.Asn187Ser Multiple submitters
- p.Asp35Gly Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ile106= Multiple submitters
- p.Lys85= Multiple submitters
- p.Thr50Ala Multiple submitters ⚠
Likely benign 129
- c.227-12dup Multiple submitters
- c.*2900A>G Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ala185= Multiple submitters
- p.Lys177= Multiple submitters
- p.Pro22Leu Multiple submitters Inborn genetic diseases
- p.Ser9Leu Multiple submitters Inborn genetic diseases
- p.Thr157= Multiple submitters
- p.Thr15Met Multiple submitters Inborn genetic diseases
- p.Tyr170= Multiple submitters
- p.Tyr92= Multiple submitters
- c.226+16C>A Single submitter
- c.226+17A>G Single submitter
- c.226+19T>C Single submitter
- c.226+9T>C Single submitter
- c.227-10A>G Single submitter
- c.227-11C>T Single submitter
- c.227-12_227-11insTTTG Single submitter
- c.227-16T>C Single submitter
- c.227-17_227-16insTTTCT Single submitter
- c.377+11C>T Single submitter
- c.377+13T>G Single submitter
- c.377+15A>G Single submitter
- c.377+17C>G Single submitter
- c.377+19C>T Single submitter
- c.377+20T>C Single submitter
- c.378-10C>T Single submitter
- c.378-13C>T Single submitter
- c.378-15T>C Single submitter
- c.378-18dup Single submitter
- c.378-19T>C Single submitter
- c.378-20T>C Single submitter
- c.378-7G>A Single submitter
- c.501+19A>G Single submitter
- c.501+7T>A Single submitter
- c.502-14A>G Single submitter
- c.502-15G>A Single submitter
- c.502-16T>C Single submitter
- c.502-17A>G Single submitter
- c.502-19T>C Single submitter
- c.502-3T>C Single submitter
- c.502-7T>A Single submitter
- c.502-7T>G Single submitter
- c.98+12T>G Single submitter
- c.98+13T>A Single submitter
- c.98+14G>A Single submitter
- c.98+17T>A Single submitter
- c.98+17T>C Single submitter
- c.98+18T>C Single submitter
- c.98+7G>A Single submitter
- c.98+8A>T Single submitter
- c.99-14T>C Single submitter
- c.99-18T>G Single submitter
- c.99-6_99-5del Single submitter
- c.99-8_99-5del Single submitter
- c.99-8A>C Single submitter
- c.-169-16T>C Single submitter
- c.-169-18C>G Single submitter
- c.-169-18C>T Single submitter
- c.-169-19G>T Single submitter
- c.-169-4T>A Single submitter
- c.-169-4T>G Single submitter
- c.-169-8A>T Single submitter
- c.-169-9T>C Single submitter
- c.-47-14T>A Single submitter
- c.-47-15T>C Single submitter
- c.-47-18A>G Single submitter
- c.-47-6C>G Single submitter
- c.-47-9C>T Single submitter
- c.-48+15G>A Single submitter
- c.-48+16T>G Single submitter
- c.-48+18G>A Single submitter
- c.-48+7A>T Single submitter
- c.*2357T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ala120= Single submitter
- p.Ala142= Single submitter
- p.Ala146= Single submitter
- p.Ala150= Single submitter
- p.Ala154= Single submitter
- p.Ala16= Single submitter
- p.Ala34= Single submitter
- p.Ala51= Single submitter
- p.Ala58= Single submitter
- p.Ala70= Single submitter
- p.Ala99= Single submitter
- p.Arg111= Single submitter
- p.Gln112= Single submitter
- p.Gln30= Single submitter
- p.Gln36= Single submitter
- p.Glu132= Single submitter
- p.Glu24= Single submitter
- p.Glu30= Single submitter
- p.Glu40= Single submitter
- p.Glu91= Single submitter
- p.Gly178= Single submitter
- p.Gly69= Single submitter
- p.Gly76= Single submitter
- p.His118= Single submitter
- p.Ile18= Single submitter
- p.Ile64= Single submitter
- p.Leu37= Single submitter
- p.Leu48= Single submitter
- p.Leu67= Single submitter
- p.Leu73= Single submitter
- p.Lys180= Single submitter
- p.Lys34= Single submitter
- p.Met1Thr Single submitter
- p.Phe183= Single submitter
- p.Pro115= Single submitter
- p.Pro18= Single submitter
- p.Pro18Leu Single submitter
- p.Pro22= Single submitter
- p.Pro22Gln Single submitter
- p.Pro46= Single submitter
- p.Pro66= Single submitter
- p.Ser12Asn Single submitter
- p.Ser131= Single submitter
- p.Ser152= Single submitter
- p.Ser173= Single submitter
- p.Ser23= Single submitter
- p.Ser2Leu Single submitter
- p.Ser55= Single submitter
- p.Ser72= Single submitter
- p.Ser89= Single submitter
- p.Ser9Trp Single submitter ⚠
- p.Thr78= Single submitter
- p.Val130= Single submitter
- p.Val139= Single submitter
- p.Val46= Single submitter
- p.Val51Ala Single submitter
Uncertain significance 133
- c.*837T>C Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ala49Gly Multiple submitters Inborn genetic diseases
- p.Ala58Thr Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ala70Val Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Arg22Pro Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Arg60His Multiple submitters Inborn genetic diseases
- p.Asn81Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp109Asn Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Asp26= Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Glu171Lys Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Glu40Lys Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Glu52Lys Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Ile155Thr Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Leu19Phe Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Lys167Gln Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Met36Thr Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Pro21= Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Pro22Ala Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Pro66Leu Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Ser2= Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ser55Ala Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Thr175Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr19Arg Multiple submitters Inborn genetic diseases
- p.Trp184Gly Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Val139Met Multiple submitters sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Val21Phe Multiple submitters
- c.377+15A>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.377+4T>C Single submitter
- c.377+5G>C Single submitter
- c.501+4A>G Single submitter
- c.*1167G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*122G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*1284C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*1424G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*143G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*1483C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*1545G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*1658G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*171G>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*1918A>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*2609G>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*2672G>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*2675A>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*2877G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*32C>G Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*344C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*372G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*44A>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*518C>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*532G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*651G>A Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*673A>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*722T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- c.*876T>C Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ala13Gly Single submitter
- p.Ala145Pro Single submitter ⚠
- p.Ala150Pro Single submitter Inborn genetic diseases ⚠
- p.Ala154Thr Single submitter ⚠
- p.Ala160Val Single submitter ⚠
- p.Ala28Thr Single submitter ⚠
- p.Ala34Ser Single submitter
- p.Ala34Val Single submitter Inborn genetic diseases
- p.Ala58Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Arg22Leu Single submitter
- p.Asn101Ser Single submitter ⚠
- p.Asn80Ser Single submitter ⚠
- p.Asp26Val Single submitter ⚠
- p.Asp35fs Single submitter
- p.Asp57Tyr Single submitter ⚠
- p.Cys107Gly Single submitter
- p.Gln54Arg Single submitter
- p.Gln61= Single submitter
- p.Glu149Ala Single submitter ⚠
- p.Glu171Gly Single submitter ⚠
- p.Glu172Gln Single submitter ⚠
- p.Glu41Asp Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Glu41Lys Single submitter ⚠
- p.Glu42Asp Single submitter
- p.Glu42Lys Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Glu52Asp Single submitter Inborn genetic diseases ⚠
- p.Gly126Ala Single submitter ⚠
- p.Gly69Asp Single submitter ⚠
- p.His118Arg Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.His143Arg Single submitter ⚠
- p.His45Pro Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ile110Val Single submitter Inborn genetic diseases ⚠
- p.Ile137Met Single submitter ⚠
- p.Ile169Met Single submitter ⚠
- p.Ile26Val Single submitter
- p.Ile41Met Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ile47Thr Single submitter
- p.Ile55Val Single submitter
- p.Leu10Phe Single submitter
- p.Leu158_Lys159del Single submitter
- p.Leu158Ter Single submitter
- p.Leu37Val Single submitter
- p.Leu54Val Single submitter ⚠
- p.Lys14Asn Single submitter
- p.Lys167= Single submitter
- p.Lys180Arg Single submitter ⚠
- p.Lys39Asn Single submitter
- p.Met98Ile Single submitter ⚠
- p.Phe11Leu Single submitter ⚠
- p.Phe29Leu Single submitter ⚠
- p.Phe57Ser Single submitter
- p.Phe82Val Single submitter ⚠
- p.Pro115Leu Single submitter ⚠
- p.Pro163Ser Single submitter ⚠
- p.Pro21Ser Single submitter ⚠
- p.Ser108Gly Single submitter ⚠
- p.Ser134Arg Single submitter ⚠
- p.Ser20Phe Single submitter ⚠
- p.Ser27Arg Single submitter ⚠
- p.Ser27Pro Single submitter
- p.Ser2Ala Single submitter ⚠
- p.Ser43Tyr Single submitter ⚠
- p.Ser60Pro Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ser72fs Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Ser8= Single submitter Inborn genetic diseases
- p.Thr157Ile Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Thr15Arg Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Thr43Ala Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- p.Thr50Ser Single submitter ⚠
- p.Thr78Ile Single submitter ⚠
- p.Trp165Arg Single submitter ⚠
- p.Trp184Arg Single submitter ⚠
- p.Tyr170Cys Single submitter ⚠
- p.Tyr95Phe Single submitter ⚠
- p.Tyr95Ser Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠
- p.Val130Gly Single submitter ⚠
- p.Val46Ile Single submitter ⚠
- p.Val7Ala Single submitter Inborn genetic diseases
- p.Asp26His No assertion criteria sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 ⚠