A total 69 pathogenic variants reported in gene molybdenum cofactor synthesis 2 (MOCS2)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004531.5(MOCS2):c.502G>A (p.Glu168Lys) SNV
Germline
Chr5:53098667 Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B No Assertion Criteria Provided
CA117941 rs_121908605

1 SubmittersRCV000006483

NM_004531.5(MOCS2):c.3G>A (p.Met1Ile) SNV
Germline
Chr5:53107172 Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B No Assertion Criteria Provided
CA117944 rs_121908606

1 SubmittersRCV000006486

NM_176806.4(MOCS2):c.16C>T (p.Gln6Ter) SNV
Germline
Chr5:53109714 Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA117947 rs_121908607

4 SubmittersRCV000006487RCV000721967RCV001851698

NM_176806.4(MOCS2):c.19G>T (p.Val7Phe) SNV
Germline
Chr5:53108643 Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B No Assertion Criteria Provided
CA117949 rs_121908608

1 SubmittersRCV000006488

NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr) SNV
Germline
Chr5:53098602 Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA117950 rs_121908609

4 SubmittersRCV000006489RCV001323986

NM_004531.5(MOCS2):c.367C>T (p.His123Tyr) SNV
Germline
Chr5:53101369 Conflicting classifications of pathogenicity not specified
Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Criteria Provided
Conflicting Classifications
CA249227 rs_2233218

7 SubmittersRCV000203023RCV000584906RCV001155307

NM_004531.5(MOCS2):c.261C>T (p.Val87=) SNV
Germline
Chr5:53101475 Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3263663 rs_777565219

2 SubmittersRCV000397962RCV002061288

NM_176806.4(MOCS2):c.178C>T (p.Arg60Cys) SNV
Germline
Chr5:53107184 Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3263776 rs_146074751

9 SubmittersRCV000300889RCV001344244RCV004022000

NM_176806.4(MOCS2):c.117G>A (p.Lys39=) SNV
Germline
Chr5:53108545 Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3263800 rs_773035025

2 SubmittersRCV000354658RCV001427397

NM_176806.4(MOCS2):c.14G>A (p.Cys5Tyr) SNV
Germline
Chr5:53109716 Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3263844 rs_572637154

3 SubmittersRCV000305729RCV000998389

NM_004531.5(MOCS2):c.296C>T (p.Ala99Val) SNV
Germline
Chr5:53101440 Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Condition: not provided
Malignant tumor of urinary bladder
Criteria Provided
Conflicting Classifications
CA3263654 rs_2233217

5 SubmittersRCV000350921RCV000998384RCV005899002

NM_004531.5(MOCS2):c.-622G>A SNV
Germline
Chr5:53109703 Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3263841 rs_373522800

2 SubmittersRCV000391666RCV001516585

NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg) SNV
Germline
Chr5:53102097 Conflicting classifications of pathogenicity Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
MOCS2-related disorder
Criteria Provided
Conflicting Classifications
CA3263693 rs_780085174

9 SubmittersRCV000479116RCV001731709RCV004758020

NM_176806.4(MOCS2):c.114G>A (p.Trp38Ter) SNV
Germline
Chr5:53108548 Likely pathogenic Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Criteria Provided
Multiple Submitters
No Conflicts
CA359694036 rs_1554028123

2 SubmittersRCV000519698RCV005034077

NM_004531.5(MOCS2):c.108G>A (p.Met36Ile) SNV
Germline
Chr5:53102215 Conflicting classifications of pathogenicity Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Criteria Provided
Conflicting Classifications
CA3263714 rs_140563222

4 SubmittersRCV000585182RCV000764611

NM_004531.5(MOCS2):c.2T>G (p.Met1Arg) SNV
Germline
Chr5:53107173 Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Criteria Provided
Single Submitter
CA359693858 rs_772575104

1 SubmittersRCV000714697

NM_176806.4(MOCS2):c.3G>A (p.Met1Ile) SNV
Germline
Chr5:53109727 Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA359694278 rs_1273139451

3 SubmittersRCV001004857RCV002549261

NM_004531.5(MOCS2):c.74A>G (p.Glu25Gly) SNV
Germline
Chr5:53107101 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3263750 rs_749876758

3 SubmittersRCV001091909RCV004639465

NM_004531.5(MOCS2):c.-625G>C SNV
Germline
Chr5:53109706 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA3263842 rs_545270303

2 SubmittersRCV001311651

NM_004531.5(MOCS2):c.45G>A (p.Thr15=) SNV
Germline
Chr5:53107130 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Criteria Provided
Conflicting Classifications
CA3263761 rs_201182814

3 SubmittersRCV001348053RCV002547090RCV005038108

NM_004531.5(MOCS2):c.377+1G>A SNV
Germline
Chr5:53101358 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
CA359692970 rs_1389817466

2 SubmittersRCV001583111

NM_176806.4(MOCS2):c.33T>G (p.Tyr11Ter) SNV
Germline
Chr5:53108629 Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Combined molybdoflavoprotein enzyme deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA3263818 rs_748049681

5 SubmittersRCV001619770RCV004690120RCV005094855

NM_176806.4(MOCS2):c.45T>A (p.Ser15Arg) SNV
Germline
Chr5:53108617 Conflicting classifications of pathogenicity Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
not specified
Criteria Provided
Conflicting Classifications
CA3263814 rs_1554028127

5 SubmittersRCV002028663RCV003348747RCV004699639

NM_004531.5(MOCS2):c.60C>T (p.Ser20=) SNV
Germline
Chr5:53107115 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA118892010 rs_929423104

2 SubmittersRCV001974975RCV005660258

NM_004531.5(MOCS2):c.27G>A (p.Ser9=) SNV
Germline
Chr5:53107148 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3263764 rs_757067036

2 SubmittersRCV002045784RCV004641889

NM_004531.5(MOCS2):c.419C>T (p.Ser140Phe) SNV
Germline
Chr5:53100493 Conflicting classifications of pathogenicity Condition: not provided
Combined molybdoflavoprotein enzyme deficiency
Criteria Provided
Conflicting Classifications
CA118889246 rs_914249018

3 SubmittersRCV001899103RCV004690167

NM_176806.4(MOCS2):c.106C>T (p.Gln36Ter) SNV
Germline
Chr5:53108556 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA3263801 rs_760415988

1 SubmittersRCV002007215

NM_176806.4(MOCS2):c.1A>G (p.Met1Val) SNV
Germline
Chr5:53109729 Pathogenic Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Criteria Provided
Multiple Submitters
No Conflicts
CA359694283 rs_1561179103

2 SubmittersRCV001951201RCV005032009

NM_176806.4(MOCS2):c.88C>T (p.Gln30Ter) SNV
Germline
Chr5:53108574 Pathogenic Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Combined molybdoflavoprotein enzyme deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA3263803 rs_754015492

3 SubmittersRCV003085732RCV005034647RCV005406581

NM_004531.5(MOCS2):c.118G>T (p.Glu40Ter) SNV
Germline
Chr5:53102205 Pathogenic/Likely pathogenic Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Criteria Provided
Multiple Submitters
No Conflicts
CA3263712 rs_753816420

2 SubmittersRCV002610415RCV005034723

NM_004531.5(MOCS2):c.78T>C (p.Asp26=) SNV
Germline
Chr5:53107097 Conflicting classifications of pathogenicity Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Criteria Provided
Conflicting Classifications
CA3263749 rs_780363320

3 SubmittersRCV002640725RCV003333234

NM_004531.5(MOCS2):c.164C>G (p.Ser55Ter) SNV
Germline
Chr5:53102159 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
CA3263701 rs_771055660

2 SubmittersRCV002643470

NM_004531.5(MOCS2):c.65C>G (p.Pro22Arg) SNV
Germline
Chr5:53107110 Conflicting classifications of pathogenicity Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Criteria Provided
Conflicting Classifications
CA359693694 rs_746626353

2 SubmittersRCV002927694RCV005034493

NM_176806.4(MOCS2):c.18+1G>A SNV
Germline
Chr5:53109711 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA359694247 rs_554491390

1 SubmittersRCV002975758

NM_004531.5(MOCS2):c.99-2A>G SNV
Germline
Chr5:53102226 Likely pathogenic Condition: not provided
Combined molybdoflavoprotein enzyme deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA359693607 rs_1740933642

2 SubmittersRCV003026237RCV004700890

NM_176806.4(MOCS2):c.18+1G>C SNV
Unknown
Chr5:53109711 Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Criteria Provided
Single Submitter
CA359694248 rs_554491390

1 SubmittersRCV003333678

NM_176806.4(MOCS2):c.18+2T>A SNV
Germline
Chr5:53109710 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA359694246 rs_2478623115

1 SubmittersRCV003557142

NM_004531.5(MOCS2):c.-169-2A>G SNV
Germline
Chr5:53108645 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA359694242 rs_2478617586

1 SubmittersRCV003567906

NM_004531.5(MOCS2):c.-169-1G>A SNV
Germline
Chr5:53108644 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA359694238 rs_2478617582

1 SubmittersRCV003563379

NM_176806.4(MOCS2):c.3G>T (p.Met1Ile) SNV
Germline
Chr5:53109727 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA359694276 rs_1273139451

1 SubmittersRCV003694397

NM_004531.5(MOCS2):c.271G>T (p.Glu91Ter) SNV
Germline
Chr5:53101465 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA3263660 rs_756717469

1 SubmittersRCV003700157

NM_004531.5(MOCS2):c.304G>T (p.Glu102Ter) SNV
Germline
Chr5:53101432 Pathogenic Condition: not provided
Combined molybdoflavoprotein enzyme deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA359693142 rs_1740904060

2 SubmittersRCV003733759RCV004701814

NM_176806.4(MOCS2):c.68C>G (p.Ser23Ter) SNV
Germline
Chr5:53108594 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006505492