A total 103 pathogenic variants reported in gene sulfite oxidase (SUOX)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln) SNV
Germline		 Chr12:56004039 Pathogenic/Likely pathogenic Sulfite oxidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA116469 rs_121908007

5 SubmittersRCV000698394
NM_001032386.2(SUOX):c.1589G>A (p.Gly530Asp) SNV
Germline		 Chr12:56004978 Likely pathogenic Sulfite oxidase deficiency
Sulfocysteinuria		 Criteria Provided
Single Submitter
 CA116471 rs_121908009

3 SubmittersRCV000758702RCV005237349
NM_001032386.2(SUOX):c.332T>A (p.Val111Asp) SNV
Unknown		 Chr12:56003721 Likely pathogenic Sulfite oxidase deficiency No Assertion Criteria Provided
 CA203849 rs_794729211

1 SubmittersRCV000184031
NM_001032386.2(SUOX):c.50+9G>A SNV
Germline		 Chr12:56002280 Conflicting classifications of pathogenicity Sulfite oxidase deficiency Criteria Provided
Conflicting Classifications
 CA6620851 rs_368327991

2 SubmittersRCV000392410
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) SNV
Germline		 Chr12:56002720 Conflicting classifications of pathogenicity Sulfite oxidase deficiency
Inborn genetic diseases
not specified
SUOX-related disorder
Ovarian serous cystadenocarcinoma
Thyroid cancer, nonmedullary, 1
Uterine carcinosarcoma
Malignant tumor of urinary bladder
Nonpapillary renal cell carcinoma
Clear cell carcinoma of kidney
Gastric cancer
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6620904 rs_202085145

10 SubmittersRCV000351081RCV002522240RCV003488520RCV003920288RCV005893122RCV005893124RCV005893123RCV005893118RCV005893119RCV005893120RCV005893121RCV006441665
NM_001032386.2(SUOX):c.279C>T (p.His93=) SNV
Germline		 Chr12:56003668 Conflicting classifications of pathogenicity Sulfite oxidase deficiency Criteria Provided
Conflicting Classifications
 CA6620948 rs_763253683

2 SubmittersRCV000392392
NM_001032386.2(SUOX):c.507C>T (p.Thr169=) SNV
Germline		 Chr12:56003896 Conflicting classifications of pathogenicity Sulfite oxidase deficiency Criteria Provided
Conflicting Classifications
 CA6620992 rs_765012855

2 SubmittersRCV000356881
NM_001032386.2(SUOX):c.192C>T (p.Leu64=) SNV
Germline		 Chr12:56002684 Conflicting classifications of pathogenicity Sulfite oxidase deficiency Criteria Provided
Conflicting Classifications
 CA6620897 rs_577360771

2 SubmittersRCV000295988
NM_001032386.2(SUOX):c.983C>T (p.Thr328Ile) SNV
Germline		 Chr12:56004372 Conflicting classifications of pathogenicity Sulfite oxidase deficiency Criteria Provided
Conflicting Classifications
 CA6621074 rs_540792428

3 SubmittersRCV000357593
NM_001032386.2(SUOX):c.968C>T (p.Ser323Leu) SNV
Germline		 Chr12:56004357 Conflicting classifications of pathogenicity Condition: not provided
Sulfite oxidase deficiency		 Criteria Provided
Conflicting Classifications
 CA6621070 rs_143457531

2 SubmittersRCV000732664RCV002254572
NM_001032386.2(SUOX):c.739C>A (p.Leu247Met) SNV
Germline		 Chr12:56004128 Conflicting classifications of pathogenicity Condition: not provided
Sulfite oxidase deficiency		 Criteria Provided
Conflicting Classifications
 CA6621034 rs_765859233

2 SubmittersRCV000756732RCV002254573
NM_001032386.2(SUOX):c.1200C>G (p.Tyr400Ter) SNV
Germline		 Chr12:56004589 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA6621129 rs_747461754

2 SubmittersRCV000758701
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) SNV
Germline		 Chr12:56004777 Conflicting classifications of pathogenicity Sulfite oxidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA385294306 rs_1565799921

3 SubmittersRCV000761535RCV001759448
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln) SNV
Germline		 Chr12:56004765 Pathogenic/Likely pathogenic Sulfite oxidase deficiency
Sulfocysteinuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6621160 rs_776356158

4 SubmittersRCV000791011RCV004800586
NM_001032386.2(SUOX):c.19G>A (p.Ala7Thr) SNV
Germline		 Chr12:56002240 Conflicting classifications of pathogenicity Sulfite oxidase deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6620845 rs_375363943

2 SubmittersRCV002254583RCV002537564
NM_001032386.2(SUOX):c.1636T>A (p.Ter546Arg) SNV
Germline		 Chr12:56005025 Conflicting classifications of pathogenicity Condition: not provided
Sulfite oxidase deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA6621195 rs_574353697

3 SubmittersRCV000904609RCV002254584RCV002282402
NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp) SNV
Germline		 Chr12:56003963 Conflicting classifications of pathogenicity Sulfite oxidase deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6621005 rs_139444405

3 SubmittersRCV000912733RCV002540845
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser) SNV
Germline		 Chr12:56004185 Conflicting classifications of pathogenicity Sulfite oxidase deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA6621046 rs_144064367

6 SubmittersRCV000988862RCV001175544
NM_001032386.2(SUOX):c.1126C>T (p.Arg376Cys) SNV
Germline		 Chr12:56004515 Conflicting classifications of pathogenicity Sulfite oxidase deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA237605274 rs_781081194

3 SubmittersRCV000988863RCV005236503
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr) SNV
Germline		 Chr12:56004923 Likely pathogenic Sulfite oxidase deficiency
Sulfocysteinuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6621176 rs_770792767

3 SubmittersRCV000988864RCV002282418
NM_001032386.2(SUOX):c.228+1G>A SNV
Germline		 Chr12:56002721 Pathogenic/Likely pathogenic Sulfite oxidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA6620905 rs_773655286

2 SubmittersRCV002254598
NM_001032386.2(SUOX):c.621C>T (p.Tyr207=) SNV
Germline		 Chr12:56004010 Conflicting classifications of pathogenicity Sulfite oxidase deficiency Criteria Provided
Conflicting Classifications
 CA6621014 rs_144469629

2 SubmittersRCV001113127
NM_001032386.2(SUOX):c.1137A>G (p.Lys379=) SNV
Germline		 Chr12:56004526 Conflicting classifications of pathogenicity Sulfite oxidase deficiency Criteria Provided
Conflicting Classifications
 CA6621115 rs_759992645

2 SubmittersRCV001114506
NM_001032386.2(SUOX):c.51-14G>A SNV
Germline		 Chr12:56002529 Conflicting classifications of pathogenicity Sulfite oxidase deficiency Criteria Provided
Conflicting Classifications
 CA6620867 rs_141432255

2 SubmittersRCV001111123
NM_001032386.2(SUOX):c.599C>T (p.Pro200Leu) SNV
Unknown		 Chr12:56003988 Likely pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385285152 rs_1435587153

1 SubmittersRCV001196618
NM_001032386.2(SUOX):c.649C>T (p.Arg217Trp) SNV
Germline		 Chr12:56004038 Conflicting classifications of pathogenicity Inborn genetic diseases
Sulfite oxidase deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA6621018 rs_765738385

3 SubmittersRCV001266711RCV001880124RCV004769981
NM_001032386.2(SUOX):c.1097G>A (p.Arg366His) SNV
Germline		 Chr12:56004486 Pathogenic/Likely pathogenic Condition: not provided
Sulfite oxidase deficiency
Sulfocysteinuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6621097 rs_776690106

7 SubmittersRCV001268179RCV002290677RCV003492239
NM_001032386.2(SUOX):c.1084G>A (p.Gly362Ser) SNV
Germline		 Chr12:56004473 Pathogenic/Likely pathogenic Sulfite oxidase deficiency
Sulfocysteinuria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6621094 rs_757559168

5 SubmittersRCV001280525RCV003387988RCV006650736
NM_001032386.2(SUOX):c.475G>T (p.Glu159Ter) SNV
Germline		 Chr12:56003864 Likely pathogenic Sulfite oxidase deficiency No Assertion Criteria Provided
 CA385283920 rs_370951378

1 SubmittersRCV001293327
NM_001032386.2(SUOX):c.1327G>T (p.Val443Leu) SNV
Germline		 Chr12:56004716 Conflicting classifications of pathogenicity Sulfite oxidase deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6621156 rs_146626318

2 SubmittersRCV002254637RCV002548483
NM_001032386.2(SUOX):c.115C>T (p.Gln39Ter) SNV
Germline		 Chr12:56002607 Pathogenic Sulfite oxidase deficiency
SUOX-related disorder		 Criteria Provided
Single Submitter
 CA385279405 rs_1175117475

2 SubmittersRCV002254649RCV004731142
NM_001032386.2(SUOX):c.621C>G (p.Tyr207Ter) SNV
Germline		 Chr12:56004010 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385285548 rs_144469629

1 SubmittersRCV002254650
NM_001032386.2(SUOX):c.1382A>T (p.Asp461Val) SNV
Germline		 Chr12:56004771 Conflicting classifications of pathogenicity Condition: not provided
Sulfite oxidase deficiency
Sulfocysteinuria		 Criteria Provided
Conflicting Classifications
 CA6621161 rs_759255030

3 SubmittersRCV001751858RCV003771925RCV006266885
NM_001032386.2(SUOX):c.528T>A (p.Tyr176Ter) SNV
Germline		 Chr12:56003917 Likely pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385284366 rs_1890630965

1 SubmittersRCV001783833
NM_001032386.2(SUOX):c.90C>A (p.Cys30Ter) SNV
Germline		 Chr12:56002582 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385279232 rs_2136509616

1 SubmittersRCV001945266
NM_001032386.2(SUOX):c.1096C>T (p.Arg366Cys) SNV
Germline		 Chr12:56004485 Conflicting classifications of pathogenicity Sulfite oxidase deficiency
Inborn genetic diseases
Sulfocysteinuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6621096 rs_760901724

5 SubmittersRCV001950800RCV002564374RCV003987943RCV005437447
NM_001032386.2(SUOX):c.802C>T (p.Arg268Ter) SNV
Germline		 Chr12:56004191 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385287953 rs_1451449404

1 SubmittersRCV001912933
NM_001032386.2(SUOX):c.1375C>T (p.Arg459Trp) SNV
Germline		 Chr12:56004764 Likely pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385294094 rs_1478487771

1 SubmittersRCV001982203
NM_001032386.2(SUOX):c.1349G>A (p.Trp450Ter) SNV
Germline		 Chr12:56004738 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385293830 rs_2136513148

1 SubmittersRCV001963653
NM_001032386.2(SUOX):c.1556C>G (p.Pro519Arg) SNV
Germline		 Chr12:56004945 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA385298281 rs_2136513466

1 SubmittersRCV002211231
NM_001032386.2(SUOX):c.905T>G (p.Leu302Ter) SNV
Germline		 Chr12:56004294 Pathogenic Sulfite oxidase deficiency No Assertion Criteria Provided
 CA385289199 rs_2136512310

1 SubmittersRCV002251710
NM_001032386.2(SUOX):c.352C>T (p.His118Tyr) SNV
Germline		 Chr12:56003741 Conflicting classifications of pathogenicity Sulfite oxidase deficiency
Inborn genetic diseases
SUOX-related disorder
Sulfocysteinuria		 Criteria Provided
Conflicting Classifications
 CA6620963 rs_770389350

5 SubmittersRCV002571586RCV002571587RCV003971303RCV004690301
NM_001032386.2(SUOX):c.1136A>G (p.Lys379Arg) SNV
Germline		 Chr12:56004525 Likely pathogenic Sulfite oxidase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6621114 rs_777114729

3 SubmittersRCV003062521RCV005622199
NM_001032386.2(SUOX):c.1585C>T (p.Arg529Ter) SNV
Germline		 Chr12:56004974 Likely pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA6621185 rs_766949012

1 SubmittersRCV002821022
NM_001032386.2(SUOX):c.849G>A (p.Trp283Ter) SNV
Germline		 Chr12:56004238 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385288482 rs_1372045486

1 SubmittersRCV003040667
NM_001032386.2(SUOX):c.768C>A (p.Tyr256Ter) SNV
Germline		 Chr12:56004157 Likely pathogenic Sulfocysteinuria Criteria Provided
Single Submitter
 CA385287488 rs_781351306

1 SubmittersRCV003226676
NM_001032386.2(SUOX):c.51-2A>C SNV
Germline		 Chr12:56002541 Likely pathogenic Sulfocysteinuria
Sulfite oxidase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA385278973 rs_1273768268

3 SubmittersRCV003324367RCV005103902
NM_001032386.2(SUOX):c.1276C>T (p.Gln426Ter) SNV
Germline		 Chr12:56004665 Pathogenic/Likely pathogenic SUOX-related disorder
Sulfite oxidase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA385292875 rs_1314125524

2 SubmittersRCV003410568RCV003638952
NM_001032386.2(SUOX):c.452T>A (p.Leu151Ter) SNV
Germline		 Chr12:56003841 Pathogenic Sulfite oxidase deficiency
SUOX-related disorder		 Criteria Provided
Single Submitter
 CA385283784 rs_2540575955

2 SubmittersRCV003524263RCV003901114
NM_001032386.2(SUOX):c.466A>T (p.Lys156Ter) SNV
Germline		 Chr12:56003855 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385283869 rs_1592829198

1 SubmittersRCV003523728
NM_001032386.2(SUOX):c.1578G>A (p.Trp526Ter) SNV
Germline		 Chr12:56004967 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385298600 rs_2540578127

1 SubmittersRCV003524744
NM_001032386.2(SUOX):c.1464G>A (p.Trp488Ter) SNV
Germline		 Chr12:56004853 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385297064 rs_2540577903

1 SubmittersRCV003524820
NM_001032386.2(SUOX):c.1545C>G (p.Tyr515Ter) SNV
Germline		 Chr12:56004934 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385298089 rs_2136513432

1 SubmittersRCV003522853
NM_001032386.2(SUOX):c.37C>T (p.Gln13Ter) SNV
Germline		 Chr12:56002258 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385278833 rs_1890558787

1 SubmittersRCV003639878
NM_001032386.2(SUOX):c.1552C>T (p.Gln518Ter) SNV
Germline		 Chr12:56004941 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385298210 rs_2540578061

1 SubmittersRCV003638159
NM_001032386.2(SUOX):c.460C>T (p.Gln154Ter) SNV
Germline		 Chr12:56003849 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA385283835 rs_2540575967

1 SubmittersRCV003639344
NM_001032386.2(SUOX):c.302G>A (p.Trp101Ter) SNV
Germline		 Chr12:56003691 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter
 CA237605120 rs_867210538

1 SubmittersRCV003878069
NM_001032386.2(SUOX):c.803G>A (p.Arg268Gln) SNV
Germline		 Chr12:56004192 Likely pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005195117
NM_001032386.2(SUOX):c.1382A>G (p.Asp461Gly) SNV
Germline		 Chr12:56004771 Likely pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006487409
NM_001032386.2(SUOX):c.721C>T (p.Gln241Ter) SNV
Germline		 Chr12:56004110 Pathogenic Sulfite oxidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006518726
NM_001032386.2(SUOX):c.884G>A (p.Gly295Glu) SNV
Germline		 Chr12:56004273 Likely pathogenic Sulfocysteinuria Criteria Provided
Single Submitter

1 SubmittersRCV006701783