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 SubmittersRCV000758702 RCV005237349
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 SubmittersRCV000006487 RCV000721967 RCV001851698
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 SubmittersRCV000006489 RCV001323986
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln)	SNV Germline	Chr6:39912289	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MOCS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA117955	rs_104893969	5 SubmittersRCV000006493 RCV003407287
NM_001358530.2(MOCS1):c.418+1G>A	SNV Germline	Chr6:39925677	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Condition: not provided MOCS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA117957	rs_141982812	12 SubmittersRCV000006494 RCV000732511 RCV003914813
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp)	SNV Germline	Chr6:39927362	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA117958	rs_104893970	5 SubmittersRCV000006495 RCV004018578
NM_020806.5(GPHN):c.1838A>C (p.Asp613Ala)	SNV Germline	Chr14:67159416	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	No Assertion Criteria Provided	CA145288	rs_397518420	1 SubmittersRCV000074361
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_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp)	SNV Germline	Chr6:39909922	Conflicting classifications of pathogenicity	Condition: not provided Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Intellectual disability not specified Inborn genetic diseases MOCS1-related disorder	Criteria Provided Conflicting Classifications	CA053157	rs_148579886	8 SubmittersRCV000416188 RCV000987692 RCV001252080 RCV001354730 RCV002518406 RCV003907902
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys)	SNV Germline	Chr6:39912909	Conflicting classifications of pathogenicity	Condition: not provided Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Intellectual disability not specified Inborn genetic diseases MOCS1-related disorder	Criteria Provided Conflicting Classifications	CA053174	rs_140243105	9 SubmittersRCV000415797 RCV000714706 RCV001252317 RCV001354513 RCV002518405 RCV003907901
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr)	SNV Germline	Chr5:53101369	Conflicting classifications of pathogenicity	Condition: not provided Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B not specified	Criteria Provided Conflicting Classifications	CA249227	rs_2233218	6 SubmittersRCV000584906 RCV001155307 RCV000203023
NM_001358530.2(MOCS1):c.1102+1G>A	SNV Germline	Chr6:39909834	Pathogenic/Likely pathogenic	Condition: not provided Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Multiple Submitters No Conflicts	CA3796056	rs_146075796	4 SubmittersRCV000254772 RCV001859482
NM_004531.5(MOCS2):c.261C>T (p.Val87=)	SNV Germline	Chr5:53101475	Conflicting classifications of pathogenicity	Condition: not provided Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	Criteria Provided Conflicting Classifications	CA3263663	rs_777565219	2 SubmittersRCV002061288 RCV000397962
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	8 SubmittersRCV000300889 RCV001344244 RCV004022000
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 SubmittersRCV000354658 RCV001427397
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 SubmittersRCV000305729 RCV000998389
NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=)	SNV Germline	Chr6:39906480	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA3795889	rs_200764011	2 SubmittersRCV000304951
NM_001358530.2(MOCS1):c.758-9C>T	SNV Germline	Chr6:39913013	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MOCS1-related disorder	Criteria Provided Conflicting Classifications	CA3796154	rs_368402544	3 SubmittersRCV000403837 RCV003897800
NM_001358530.2(MOCS1):c.426C>T (p.Leu142=)	SNV Germline	Chr6:39916225	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA3796280	rs_375882259	2 SubmittersRCV000273845
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	Criteria Provided Conflicting Classifications	CA3263654	rs_2233217	4 SubmittersRCV000350921 RCV000998384
NM_004531.5(MOCS2):c.-622G>A	SNV Germline	Chr5:53109703	Conflicting classifications of pathogenicity	Condition: not provided Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	Criteria Provided Conflicting Classifications	CA3263841	rs_373522800	2 SubmittersRCV001516585 RCV000391666
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=)	SNV Germline	Chr6:39906855	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Condition: not provided	Criteria Provided Conflicting Classifications	CA3795952	rs_745789021	3 SubmittersRCV000270901 RCV003430924
NM_001358530.2(MOCS1):c.981+12C>T	SNV Germline	Chr6:39912252	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA3796097	rs_377628500	2 SubmittersRCV000278880
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 SUOX-related disorder Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA6620904	rs_202085145	8 SubmittersRCV000351081 RCV003920288 RCV002522240 RCV003488520
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_001358530.2(MOCS1):c.124-69G>A	SNV Germline	Chr6:39927524	Conflicting classifications of pathogenicity	Condition: not provided MOCS1-related disorder Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA3796445	rs_45487695	6 SubmittersRCV000415763 RCV003932539 RCV000605979
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 SubmittersRCV000479116 RCV001731709 RCV004758020
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 SubmittersRCV000519698 RCV005034077
NM_020806.5(GPHN):c.271G>A (p.Ala91Thr)	SNV Germline	Chr14:66824543	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7233704	rs_140021399	2 SubmittersRCV000548955 RCV002526142
NM_001358530.2(MOCS1):c.162G>A (p.Ala54=)	SNV Germline	Chr6:39927417	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA3796422	rs_200316862	2 SubmittersRCV001155455
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys)	SNV Germline	Chr6:39909055	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA137648082	rs_751603831	5 SubmittersRCV000642133
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr)	SNV Germline	Chr6:39909873	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Condition: not provided MOCS1-related disorder not specified	Criteria Provided Conflicting Classifications	CA3796063	rs_143912353	8 SubmittersRCV000642134 RCV003222073 RCV004742552 RCV003994058
NM_020806.5(GPHN):c.86A>G (p.Asn29Ser)	SNV Germline	Chr14:66681128	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7233631	rs_144247888	5 SubmittersRCV000642141 RCV003338709 RCV004808819
NM_020806.5(GPHN):c.307G>A (p.Val103Ile)	SNV Germline	Chr14:66879951	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7233727	rs_774132595	2 SubmittersRCV000642138 RCV004975741
NM_020806.5(GPHN):c.127G>A (p.Val43Ile)	SNV Germline	Chr14:66681169	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Condition: not provided Hyperekplexia 1 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Conflicting Classifications	CA7233642	rs_117256383	4 SubmittersRCV000686556 RCV004721550 RCV002507188
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_001358530.2(MOCS1):c.1126A>T (p.Lys376Ter)	SNV Germline	Chr6:39909079	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	No Assertion Criteria Provided	CA364041835	rs_1562085332	1 SubmittersRCV000721979
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 SubmittersRCV000732664 RCV002254572
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 SubmittersRCV000756732 RCV002254573
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 SubmittersRCV000761535 RCV001759448
NM_020806.5(GPHN):c.730-1G>A	SNV Germline	Chr14:66924193	Conflicting classifications of pathogenicity	Condition: not provided Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Conflicting Classifications	CA390256592	rs_1567108397	2 SubmittersRCV000761885 RCV001855708
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 SubmittersRCV000791011 RCV004800586
NM_001358530.2(MOCS1):c.1016G>A (p.Arg339Gln)	SNV Germline	Chr6:39909921	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3796074	rs_142478972	4 SubmittersRCV000798315 RCV003307448
NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp)	SNV Germline	Chr6:39912948	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3796142	rs_146944225	4 SubmittersRCV000794922 RCV002535914
NM_020806.5(GPHN):c.1666C>T (p.Arg556Ter)	SNV Germline	Chr14:67122295	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390259136	rs_1595241291	1 SubmittersRCV000808752
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp)	SNV Germline	Chr6:39925719	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3796323	rs_372246702	9 SubmittersRCV000853356 RCV001528779
NM_001358530.2(MOCS1):c.1150+20G>A	SNV Germline	Chr6:39909035	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA3796014	rs_752653792	4 SubmittersRCV000853363
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 SubmittersRCV002254583 RCV002537564
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 SubmittersRCV000904609 RCV002254584 RCV002282402
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 SubmittersRCV000912733 RCV002540845
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp)	SNV Germline	Chr6:39906800	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA3795941	rs_201889779	2 SubmittersRCV000987691
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 SubmittersRCV000988862 RCV001175544
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	2 SubmittersRCV000988863 RCV005236503
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 SubmittersRCV000988864 RCV002282418
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp)	SNV Germline	Chr6:39925702	Conflicting classifications of pathogenicity	Condition: not provided Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA3796317	rs_377167949	4 SubmittersRCV000998597 RCV001154614
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 SubmittersRCV001004857 RCV002549261
NM_020806.5(GPHN):c.1989G>A (p.Ser663=)	SNV Germline	Chr14:67168946	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Condition: not provided	Criteria Provided Conflicting Classifications	CA7234244	rs_529026517	2 SubmittersRCV001065957 RCV004693563
NM_020806.5(GPHN):c.2079+2T>C	SNV Germline	Chr14:67169038	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390122122	rs_2082439915	1 SubmittersRCV001057847
NM_001032386.2(SUOX):c.228+1G>A	SNV Germline	Chr12:56002721	Pathogenic	Sulfite oxidase deficiency	Criteria Provided Single Submitter	CA6620905	rs_773655286	1 SubmittersRCV002254598
NM_020806.5(GPHN):c.65-1G>C	SNV Unknown	Chr14:66681106	Likely pathogenic	Seizure Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390255350	rs_2066910297	2 SubmittersRCV001078183 RCV003883166
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_001358530.2(MOCS1):c.1668C>T (p.His556=)	SNV Germline	Chr6:39906600	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Condition: not provided	Criteria Provided Conflicting Classifications	CA3795915	rs_149233109	3 SubmittersRCV001151489 RCV003433045
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=)	SNV Germline	Chr6:39906906	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA3795960	rs_771259156	2 SubmittersRCV001151491
NM_001358530.2(MOCS1):c.455G>A (p.Gly152Asp)	SNV Germline	Chr6:39916196	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Condition: not provided	Criteria Provided Conflicting Classifications	CA3796270	rs_116035280	3 SubmittersRCV001253961 RCV002274163
NM_001358530.2(MOCS1):c.431G>A (p.Arg144Gln)	SNV Germline	Chr6:39916220	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3796278	rs_138822116	5 SubmittersRCV001253962 RCV003387985 RCV004960660
NM_001358530.2(MOCS1):c.339C>T (p.Leu113=)	SNV Germline	Chr6:39925757	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA450207652	rs_762810343	2 SubmittersRCV001154615
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=)	SNV Germline	Chr6:39925795	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA137655024	rs_111640560	2 SubmittersRCV001154616
NM_001358530.2(MOCS1):c.282G>A (p.Pro94=)	SNV Germline	Chr6:39925814	Conflicting classifications of pathogenicity	Condition: not provided MOCS1-related disorder Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA3796355	rs_145146059	4 SubmittersRCV003433053 RCV003906274 RCV001154617
NM_001358530.2(MOCS1):c.583+12T>C	SNV Germline	Chr6:39916056	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA3796244	rs_199797027	2 SubmittersRCV001157020
NM_001358530.2(MOCS1):c.583+7G>A	SNV Germline	Chr6:39916061	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA3796246	rs_150131853	2 SubmittersRCV001157021
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_001358530.2(MOCS1):c.112G>C (p.Ala38Pro)	SNV Germline	Chr6:39934306	Conflicting classifications of pathogenicity	Intellectual disability Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3796497	rs_532400782	3 SubmittersRCV001252078 RCV003106165 RCV003284132
NM_020806.5(GPHN):c.1293+2T>G	SNV Germline	Chr14:67100913	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390257779	rs_2077665118	1 SubmittersRCV004799488
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 SubmittersRCV001266711 RCV001880124 RCV004769981
NM_001032386.2(SUOX):c.1097G>A (p.Arg366His)	SNV Germline	Chr12:56004486	Pathogenic/Likely pathogenic	Condition: not provided Sulfocysteinuria Sulfite oxidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA6621097	rs_776690106	6 SubmittersRCV001268179 RCV003492239 RCV002290677
NM_001032386.2(SUOX):c.1084G>A (p.Gly362Ser)	SNV Germline	Chr12:56004473	Pathogenic	Sulfite oxidase deficiency Sulfocysteinuria	Criteria Provided Multiple Submitters No Conflicts	CA6621094	rs_757559168	3 SubmittersRCV001280525 RCV003387988
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_001358530.2(MOCS1):c.758-3C>T	SNV Germline	Chr6:39913007	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Condition: not provided MOCS1-related disorder not specified	Criteria Provided Conflicting Classifications	CA3796150	rs_113678603	4 SubmittersRCV001307843 RCV003334049 RCV004743393 RCV004782701
NM_001358530.2(MOCS1):c.334C>T (p.Arg112Trp)	SNV Germline	Chr6:39925762	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MOCS1-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3796341	rs_757431407	5 SubmittersRCV001308726 RCV003405528 RCV005372635 RCV003326562
NM_001358530.2(MOCS1):c.1080C>T (p.Gly360=)	SNV Germline	Chr6:39909857	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA3796062	rs_766980859	2 SubmittersRCV001318278
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 SubmittersRCV001348053 RCV002547090 RCV005038108
NM_001358530.2(MOCS1):c.367C>T (p.Arg123Trp)	SNV Germline	Chr6:39925729	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Condition: not provided	Criteria Provided Conflicting Classifications	CA3796327	rs_779592342	4 SubmittersRCV001346725 RCV005416521
NM_001358530.2(MOCS1):c.11G>A (p.Arg4Gln)	SNV Germline	Chr6:39934407	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3796509	rs_760690355	3 SubmittersRCV001345484 RCV003169673
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 SubmittersRCV002254637 RCV002548483
NM_001358530.2(MOCS1):c.815G>A (p.Arg272Gln)	SNV Germline	Chr6:39912947	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3796141	rs_368776652	2 SubmittersRCV001372724 RCV005372686
NM_001358530.2(MOCS1):c.484C>T (p.Arg162Trp)	SNV Germline	Chr6:39916167	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3796263	rs_746138504	5 SubmittersRCV001362070 RCV004587141 RCV004952817 RCV005225392
NM_001358530.2(MOCS1):c.981+1G>A	SNV Germline	Chr6:39912263	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Multiple Submitters No Conflicts	CA3796101	rs_759311241	3 SubmittersRCV001377537
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 SubmittersRCV002254649 RCV004731142
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_001358530.2(MOCS1):c.645+7C>T	SNV Germline	Chr6:39913767	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Condition: not provided not specified MOCS1-related disorder	Criteria Provided Conflicting Classifications	CA3796218	rs_112994296	4 SubmittersRCV001467136 RCV003334043 RCV004782743 RCV004743513
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 SubmittersRCV001619770 RCV004690120 RCV005094855
NM_001032386.2(SUOX):c.1382A>T (p.Asp461Val)	SNV Germline	Chr12:56004771	Conflicting classifications of pathogenicity	Condition: not provided Sulfite oxidase deficiency	Criteria Provided Conflicting Classifications	CA6621161	rs_759255030	2 SubmittersRCV001751858 RCV003771925
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_020806.5(GPHN):c.828+1G>A	SNV Germline	Chr14:66924293	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Multiple Submitters No Conflicts	CA7233836	rs_533003321	3 SubmittersRCV001823444
NM_176806.4(MOCS2):c.45T>A (p.Ser15Arg)	SNV Germline	Chr5:53108617	Conflicting classifications of pathogenicity	Condition: not provided not specified Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	Criteria Provided Conflicting Classifications	CA3263814	rs_1554028127	5 SubmittersRCV002028663 RCV004699639 RCV003348747
NM_020806.5(GPHN):c.49G>A (p.Val17Ile)	SNV Germline	Chr14:66508576	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7233596	rs_550187024	2 SubmittersRCV001997304 RCV003170132
NM_020806.5(GPHN):c.1413+2T>G	SNV Germline	Chr14:67110261	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390258086	rs_2153685300	1 SubmittersRCV002024387
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_020806.5(GPHN):c.1234C>T (p.Arg412Ter)	SNV Germline	Chr14:67089072	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390257350	rs_2153668310	1 SubmittersRCV001941687
NM_020806.5(GPHN):c.1975+2T>C	SNV Germline	Chr14:67165228	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390121893	rs_2140003018	1 SubmittersRCV002050084
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 SubmittersRCV001950800 RCV002564374 RCV003987943 RCV005437447
NM_001358530.2(MOCS1):c.1150+1G>T	SNV Germline	Chr6:39909054	Pathogenic/Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Multiple Submitters No Conflicts	CA364041740	rs_2149398895	2 SubmittersRCV001886816
NM_001358530.2(MOCS1):c.955C>T (p.Arg319Ter)	SNV Germline	Chr6:39912290	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Multiple Submitters No Conflicts	CA3796105	rs_774902198	2 SubmittersRCV001958894
NM_001358530.2(MOCS1):c.268G>T (p.Glu90Ter)	SNV Germline	Chr6:39925828	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter	CA3796360	rs_147580725	1 SubmittersRCV002037865
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 SubmittersRCV001951201 RCV005032009
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_001358530.2(MOCS1):c.1102+2T>C	SNV Germline	Chr6:39909833	Pathogenic/Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Multiple Submitters No Conflicts	CA364042005	rs_1345407391	2 SubmittersRCV002016843
NM_020806.5(GPHN):c.277C>T (p.Arg93Ter)	SNV Germline	Chr14:66824549	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390255576	rs_2061323841	1 SubmittersRCV001949542
NM_001358530.2(MOCS1):c.60C>A (p.Ser20Arg)	SNV Germline	Chr6:39934358	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA364030622	rs_1208715055	2 SubmittersRCV002001875 RCV004946907
NM_001358530.2(MOCS1):c.1222C>T (p.Gln408Ter)	SNV Germline	Chr6:39907046	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter	CA3795981	rs_775830396	1 SubmittersRCV001914027
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_001358530.2(MOCS1):c.639T>G (p.Pro213=)	SNV Germline	Chr6:39913780	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA450206058	rs_1260936028	2 SubmittersRCV002081500
NM_001358530.2(MOCS1):c.251-11C>A	SNV Germline	Chr6:39925856	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA3796369	rs_377424990	2 SubmittersRCV002081574
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 SUOX-related disorder Inborn genetic diseases Sulfocysteinuria	Criteria Provided Conflicting Classifications	CA6620963	rs_770389350	5 SubmittersRCV002571586 RCV003971303 RCV002571587 RCV004690301
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 SubmittersRCV003062521 RCV005622199
NM_020806.5(GPHN):c.1223G>A (p.Gly408Asp)	SNV Germline	Chr14:67089061	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390257328	rs_2543059971	1 SubmittersRCV003062639
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 SubmittersRCV003085732 RCV005034647 RCV005406581
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 SubmittersRCV002610415 RCV005034723
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 SubmittersRCV002640725 RCV003333234
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_001358530.2(MOCS1):c.124-1G>C	SNV Germline	Chr6:39927456	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Multiple Submitters No Conflicts	CA364045212	rs_2482418550	2 SubmittersRCV002834075
NM_020806.5(GPHN):c.1237+2T>C	SNV Germline	Chr14:67089077	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390257361	rs_2543060389	1 SubmittersRCV002825508
NM_001358530.2(MOCS1):c.1150G>T (p.Glu384Ter)	SNV Germline	Chr6:39909055	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter	CA364041745	rs_751603831	1 SubmittersRCV002825536
NM_020806.5(GPHN):c.144-1G>C	SNV Germline	Chr14:66776463	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390255171	rs_2549068048	1 SubmittersRCV002861595
NM_001358530.2(MOCS1):c.109C>T (p.Arg37Ter)	SNV Germline	Chr6:39934309	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter	CA364030418	rs_1424748492	1 SubmittersRCV002852531
NM_020806.5(GPHN):c.168C>A (p.Tyr56Ter)	SNV Germline	Chr14:66776488	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390255221	rs_2549068250	1 SubmittersRCV002957360
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 SubmittersRCV002927694 RCV005034493
NM_020806.5(GPHN):c.294+1G>T	SNV Germline	Chr14:66824567	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390255638	rs_2549284450	1 SubmittersRCV003007806
NM_020806.5(GPHN):c.1702C>T (p.Gln568Ter)	SNV Germline	Chr14:67122331	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390259260	rs_2543525337	1 SubmittersRCV003015783
NM_001358530.2(MOCS1):c.1103-1G>A	SNV Germline	Chr6:39909103	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter	CA364041946	rs_2482274768	1 SubmittersRCV003014419
NM_020806.5(GPHN):c.400G>A (p.Gly134Arg)	SNV Germline	Chr14:66916013	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390255844	rs_2549597698	1 SubmittersRCV003025285
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.51-2A>C	SNV Germline	Chr12:56002541	Likely pathogenic	Sulfocysteinuria Sulfite oxidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA385278973	rs_1273768268	3 SubmittersRCV003324367 RCV005103902
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_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 SubmittersRCV003410568 RCV003638952
NM_001358530.2(MOCS1):c.1027C>T (p.Arg343Ter)	SNV Germline	Chr6:39909910	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Multiple Submitters No Conflicts	CA364042343	rs_746098961	3 SubmittersRCV003470159
NM_001358530.2(MOCS1):c.664C>T (p.Arg222Ter)	SNV Germline	Chr6:39913410	Pathogenic/Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA364044030	rs_1266681695	3 SubmittersRCV003461872 RCV005220719
NM_001358530.2(MOCS1):c.871-1G>A	SNV Germline	Chr6:39912375	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Multiple Submitters No Conflicts	CA364043299	rs_2482303357	2 SubmittersRCV003470162
NM_001358530.2(MOCS1):c.601G>T (p.Glu201Ter)	SNV Unknown	Chr6:39913818	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter	CA364044213	rs_1285930895	1 SubmittersRCV003470163
NM_001358530.2(MOCS1):c.949C>T (p.Arg317Cys)	SNV Germline	Chr6:39912296	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Intellectual disability	Criteria Provided Conflicting Classifications	CA137649773	rs_866399151	2 SubmittersRCV003470166 RCV005622237
NM_001358530.2(MOCS1):c.925G>T (p.Glu309Ter)	SNV Germline	Chr6:39912320	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter	CA364043091	rs_2482302899	1 SubmittersRCV003508087
NM_020806.5(GPHN):c.1472+1G>A	SNV Germline	Chr14:67111920	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390258371	rs_2543395293	1 SubmittersRCV003506036
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 SubmittersRCV003524263 RCV003901114
NM_020806.5(GPHN):c.1156C>T (p.Arg386Ter)	SNV Germline	Chr14:67088994	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390257176	rs_1352910925	1 SubmittersRCV003506252
NM_001358530.2(MOCS1):c.124-6T>G	SNV Germline	Chr6:39927461	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3796436	rs_769669172	2 SubmittersRCV003508968 RCV004636777
NM_001358530.2(MOCS1):c.870+1G>T	SNV Germline	Chr6:39912891	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter	CA364043350	rs_2482307867	1 SubmittersRCV003508942
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_020806.5(GPHN):c.1834A>T (p.Lys612Ter)	SNV Germline	Chr14:67143447	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390259672	rs_2543888962	1 SubmittersRCV003505631
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_020806.5(GPHN):c.1006+2T>C	SNV Germline	Chr14:67023677	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390257141	rs_2542172605	1 SubmittersRCV003505739
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_001358530.2(MOCS1):c.1206G>A (p.Trp402Ter)	SNV Germline	Chr6:39907062	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter	CA364041168	rs_2482260672	1 SubmittersRCV003616611
NM_001358530.2(MOCS1):c.421C>T (p.Gln141Ter)	SNV Germline	Chr6:39916230	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter	CA137652795	rs_368942024	1 SubmittersRCV003616549
NM_020806.5(GPHN):c.904G>T (p.Glu302Ter)	SNV Germline	Chr14:66965266	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390257522	rs_2549782519	1 SubmittersRCV003616586
NM_020806.5(GPHN):c.389+1G>A	SNV Germline	Chr14:66880034	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390257023	rs_2549499286	1 SubmittersRCV003616660
NM_020806.5(GPHN):c.1473-1G>A	SNV Germline	Chr14:67113017	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter	CA390258431	rs_2543402445	1 SubmittersRCV003616823
NM_001358530.2(MOCS1):c.142C>T (p.Gln48Ter)	SNV Germline	Chr6:39927437	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter	CA364045172	rs_2482418384	1 SubmittersRCV003616777
NM_001358530.2(MOCS1):c.1276G>T (p.Gly426Ter)	SNV Germline	Chr6:39906992	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter	CA364040914	rs_777405686	1 SubmittersRCV003616936
NM_001358530.2(MOCS1):c.982-1G>A	SNV Germline	Chr6:39909956	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter	CA364042532	rs_2482284914	1 SubmittersRCV003616932
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_001358530.2(MOCS1):c.427C>T (p.Gln143Ter)	SNV Unknown	Chr6:39916224	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter		rs_2482337397	1 SubmittersRCV004576200
NM_001358530.2(MOCS1):c.768G>A (p.Trp256Ter)	SNV Unknown	Chr6:39912994	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter		rs_2482309436	1 SubmittersRCV004576202
NM_001358530.2(MOCS1):c.971G>A (p.Gly324Glu)	SNV Germline	Chr6:39912274	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter			1 SubmittersRCV004789706
NM_001358530.2(MOCS1):c.251-2A>G	SNV Germline	Chr6:39925847	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	No Assertion Criteria Provided			1 SubmittersRCV004801484
NM_001358530.2(MOCS1):c.1150+21T>C	SNV Germline	Chr6:39909034	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter			1 SubmittersRCV005045676
NM_001358530.2(MOCS1):c.994G>T (p.Gly332Ter)	SNV Germline	Chr6:39909943	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter			1 SubmittersRCV005039741
NM_001358530.2(MOCS1):c.1103-1G>C	SNV Germline	Chr6:39909103	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter			1 SubmittersRCV005126481
NM_020806.5(GPHN):c.828+1G>T	SNV Germline	Chr14:66924293	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter			1 SubmittersRCV005173341
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_020806.5(GPHN):c.1463A>G (p.Gln488Arg)	SNV Germline	Chr14:67111910	Pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Criteria Provided Single Submitter			1 SubmittersRCV005195262
NM_001358530.2(MOCS1):c.124-1G>A	SNV Germline	Chr6:39927456	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter			1 SubmittersRCV005199692

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 SubmittersRCV000758702 RCV005237349

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 SubmittersRCV000006487 RCV000721967 RCV001851698

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 SubmittersRCV000006489 RCV001323986

NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln)

SNV
Germline

Chr6:39912289

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
MOCS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA117955

rs_104893969

5 SubmittersRCV000006493 RCV003407287

NM_001358530.2(MOCS1):c.418+1G>A

SNV
Germline

Chr6:39925677

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Condition: not provided
MOCS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA117957

rs_141982812

12 SubmittersRCV000006494 RCV000732511 RCV003914813

NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp)

SNV
Germline

Chr6:39927362

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA117958

rs_104893970

5 SubmittersRCV000006495 RCV004018578

NM_020806.5(GPHN):c.1838A>C (p.Asp613Ala)

SNV
Germline

Chr14:67159416

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

No Assertion Criteria Provided

CA145288

rs_397518420

1 SubmittersRCV000074361

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_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp)

SNV
Germline

Chr6:39909922

Conflicting classifications of pathogenicity

Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Intellectual disability
not specified
Inborn genetic diseases
MOCS1-related disorder

Criteria Provided
Conflicting Classifications

CA053157

rs_148579886

8 SubmittersRCV000416188 RCV000987692 RCV001252080 RCV001354730 RCV002518406 RCV003907902

NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys)

SNV
Germline

Chr6:39912909

Conflicting classifications of pathogenicity

Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Intellectual disability
not specified
Inborn genetic diseases
MOCS1-related disorder

Criteria Provided
Conflicting Classifications

CA053174

rs_140243105

9 SubmittersRCV000415797 RCV000714706 RCV001252317 RCV001354513 RCV002518405 RCV003907901

NM_004531.5(MOCS2):c.367C>T (p.His123Tyr)

SNV
Germline

Chr5:53101369

Conflicting classifications of pathogenicity

Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
not specified

Criteria Provided
Conflicting Classifications

CA249227

rs_2233218

6 SubmittersRCV000584906 RCV001155307 RCV000203023

NM_001358530.2(MOCS1):c.1102+1G>A

SNV
Germline

Chr6:39909834

Pathogenic/Likely pathogenic

Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Multiple Submitters
No Conflicts

CA3796056

rs_146075796

4 SubmittersRCV000254772 RCV001859482

NM_004531.5(MOCS2):c.261C>T (p.Val87=)

SNV
Germline

Chr5:53101475

Conflicting classifications of pathogenicity

Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Criteria Provided
Conflicting Classifications

CA3263663

rs_777565219

2 SubmittersRCV002061288 RCV000397962

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

8 SubmittersRCV000300889 RCV001344244 RCV004022000

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 SubmittersRCV000354658 RCV001427397

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 SubmittersRCV000305729 RCV000998389

NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=)

SNV
Germline

Chr6:39906480

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA3795889

rs_200764011

2 SubmittersRCV000304951

NM_001358530.2(MOCS1):c.758-9C>T

SNV
Germline

Chr6:39913013

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
MOCS1-related disorder

Criteria Provided
Conflicting Classifications

CA3796154

rs_368402544

3 SubmittersRCV000403837 RCV003897800

NM_001358530.2(MOCS1):c.426C>T (p.Leu142=)

SNV
Germline

Chr6:39916225

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA3796280

rs_375882259

2 SubmittersRCV000273845

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

Criteria Provided
Conflicting Classifications

CA3263654

rs_2233217

4 SubmittersRCV000350921 RCV000998384

NM_004531.5(MOCS2):c.-622G>A

SNV
Germline

Chr5:53109703

Conflicting classifications of pathogenicity

Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Criteria Provided
Conflicting Classifications

CA3263841

rs_373522800

2 SubmittersRCV001516585 RCV000391666

NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=)

SNV
Germline

Chr6:39906855

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3795952

rs_745789021

3 SubmittersRCV000270901 RCV003430924

NM_001358530.2(MOCS1):c.981+12C>T

SNV
Germline

Chr6:39912252

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA3796097

rs_377628500

2 SubmittersRCV000278880

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
SUOX-related disorder
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6620904

rs_202085145

8 SubmittersRCV000351081 RCV003920288 RCV002522240 RCV003488520

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_001358530.2(MOCS1):c.124-69G>A

SNV
Germline

Chr6:39927524

Conflicting classifications of pathogenicity

Condition: not provided
MOCS1-related disorder
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA3796445

rs_45487695

6 SubmittersRCV000415763 RCV003932539 RCV000605979

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 SubmittersRCV000479116 RCV001731709 RCV004758020

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 SubmittersRCV000519698 RCV005034077

NM_020806.5(GPHN):c.271G>A (p.Ala91Thr)

SNV
Germline

Chr14:66824543

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7233704

rs_140021399

2 SubmittersRCV000548955 RCV002526142

NM_001358530.2(MOCS1):c.162G>A (p.Ala54=)

SNV
Germline

Chr6:39927417

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA3796422

rs_200316862

2 SubmittersRCV001155455

NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys)

SNV
Germline

Chr6:39909055

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA137648082

rs_751603831

5 SubmittersRCV000642133

NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr)

SNV
Germline

Chr6:39909873

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Condition: not provided
MOCS1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3796063

rs_143912353

8 SubmittersRCV000642134 RCV003222073 RCV004742552 RCV003994058

NM_020806.5(GPHN):c.86A>G (p.Asn29Ser)

SNV
Germline

Chr14:66681128

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7233631

rs_144247888

5 SubmittersRCV000642141 RCV003338709 RCV004808819

NM_020806.5(GPHN):c.307G>A (p.Val103Ile)

SNV
Germline

Chr14:66879951

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7233727

rs_774132595

2 SubmittersRCV000642138 RCV004975741

NM_020806.5(GPHN):c.127G>A (p.Val43Ile)

SNV
Germline

Chr14:66681169

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Condition: not provided
Hyperekplexia 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Conflicting Classifications

CA7233642

rs_117256383

4 SubmittersRCV000686556 RCV004721550 RCV002507188

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_001358530.2(MOCS1):c.1126A>T (p.Lys376Ter)

SNV
Germline

Chr6:39909079

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

No Assertion Criteria Provided

CA364041835

rs_1562085332

1 SubmittersRCV000721979

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 SubmittersRCV000732664 RCV002254572

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 SubmittersRCV000756732 RCV002254573

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 SubmittersRCV000761535 RCV001759448

NM_020806.5(GPHN):c.730-1G>A

SNV
Germline

Chr14:66924193

Conflicting classifications of pathogenicity

Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Conflicting Classifications

CA390256592

rs_1567108397

2 SubmittersRCV000761885 RCV001855708

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 SubmittersRCV000791011 RCV004800586

NM_001358530.2(MOCS1):c.1016G>A (p.Arg339Gln)

SNV
Germline

Chr6:39909921

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3796074

rs_142478972

4 SubmittersRCV000798315 RCV003307448

NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp)

SNV
Germline

Chr6:39912948

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3796142

rs_146944225

4 SubmittersRCV000794922 RCV002535914

NM_020806.5(GPHN):c.1666C>T (p.Arg556Ter)

SNV
Germline

Chr14:67122295

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390259136

rs_1595241291

1 SubmittersRCV000808752

NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp)

SNV
Germline

Chr6:39925719

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3796323

rs_372246702

9 SubmittersRCV000853356 RCV001528779

NM_001358530.2(MOCS1):c.1150+20G>A

SNV
Germline

Chr6:39909035

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA3796014

rs_752653792

4 SubmittersRCV000853363

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 SubmittersRCV002254583 RCV002537564

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 SubmittersRCV000904609 RCV002254584 RCV002282402

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 SubmittersRCV000912733 RCV002540845

NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp)

SNV
Germline

Chr6:39906800

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA3795941

rs_201889779

2 SubmittersRCV000987691

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 SubmittersRCV000988862 RCV001175544

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

2 SubmittersRCV000988863 RCV005236503

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 SubmittersRCV000988864 RCV002282418

NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp)

SNV
Germline

Chr6:39925702

Conflicting classifications of pathogenicity

Condition: not provided
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA3796317

rs_377167949

4 SubmittersRCV000998597 RCV001154614

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 SubmittersRCV001004857 RCV002549261

NM_020806.5(GPHN):c.1989G>A (p.Ser663=)

SNV
Germline

Chr14:67168946

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7234244

rs_529026517

2 SubmittersRCV001065957 RCV004693563

NM_020806.5(GPHN):c.2079+2T>C

SNV
Germline

Chr14:67169038

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390122122

rs_2082439915

1 SubmittersRCV001057847

NM_001032386.2(SUOX):c.228+1G>A

SNV
Germline

Chr12:56002721

Pathogenic

Sulfite oxidase deficiency

Criteria Provided
Single Submitter

CA6620905

rs_773655286

1 SubmittersRCV002254598

NM_020806.5(GPHN):c.65-1G>C

SNV
Unknown

Chr14:66681106

Likely pathogenic

Seizure
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390255350

rs_2066910297

2 SubmittersRCV001078183 RCV003883166

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_001358530.2(MOCS1):c.1668C>T (p.His556=)

SNV
Germline

Chr6:39906600

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3795915

rs_149233109

3 SubmittersRCV001151489 RCV003433045

NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=)

SNV
Germline

Chr6:39906906

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA3795960

rs_771259156

2 SubmittersRCV001151491

NM_001358530.2(MOCS1):c.455G>A (p.Gly152Asp)

SNV
Germline

Chr6:39916196

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3796270

rs_116035280

3 SubmittersRCV001253961 RCV002274163

NM_001358530.2(MOCS1):c.431G>A (p.Arg144Gln)

SNV
Germline

Chr6:39916220

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3796278

rs_138822116

5 SubmittersRCV001253962 RCV003387985 RCV004960660

NM_001358530.2(MOCS1):c.339C>T (p.Leu113=)

SNV
Germline

Chr6:39925757

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA450207652

rs_762810343

2 SubmittersRCV001154615

NM_001358530.2(MOCS1):c.301C>T (p.Leu101=)

SNV
Germline

Chr6:39925795

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA137655024

rs_111640560

2 SubmittersRCV001154616

NM_001358530.2(MOCS1):c.282G>A (p.Pro94=)

SNV
Germline

Chr6:39925814

Conflicting classifications of pathogenicity

Condition: not provided
MOCS1-related disorder
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA3796355

rs_145146059

4 SubmittersRCV003433053 RCV003906274 RCV001154617

NM_001358530.2(MOCS1):c.583+12T>C

SNV
Germline

Chr6:39916056

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA3796244

rs_199797027

2 SubmittersRCV001157020

NM_001358530.2(MOCS1):c.583+7G>A

SNV
Germline

Chr6:39916061

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA3796246

rs_150131853

2 SubmittersRCV001157021

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_001358530.2(MOCS1):c.112G>C (p.Ala38Pro)

SNV
Germline

Chr6:39934306

Conflicting classifications of pathogenicity

Intellectual disability
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3796497

rs_532400782

3 SubmittersRCV001252078 RCV003106165 RCV003284132

NM_020806.5(GPHN):c.1293+2T>G

SNV
Germline

Chr14:67100913

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390257779

rs_2077665118

1 SubmittersRCV004799488

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 SubmittersRCV001266711 RCV001880124 RCV004769981

NM_001032386.2(SUOX):c.1097G>A (p.Arg366His)

SNV
Germline

Chr12:56004486

Pathogenic/Likely pathogenic

Condition: not provided
Sulfocysteinuria
Sulfite oxidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA6621097

rs_776690106

6 SubmittersRCV001268179 RCV003492239 RCV002290677

NM_001032386.2(SUOX):c.1084G>A (p.Gly362Ser)

SNV
Germline

Chr12:56004473

Pathogenic

Sulfite oxidase deficiency
Sulfocysteinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA6621094

rs_757559168

3 SubmittersRCV001280525 RCV003387988

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_001358530.2(MOCS1):c.758-3C>T

SNV
Germline

Chr6:39913007

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Condition: not provided
MOCS1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3796150

rs_113678603

4 SubmittersRCV001307843 RCV003334049 RCV004743393 RCV004782701

NM_001358530.2(MOCS1):c.334C>T (p.Arg112Trp)

SNV
Germline

Chr6:39925762

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
MOCS1-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3796341

rs_757431407

5 SubmittersRCV001308726 RCV003405528 RCV005372635 RCV003326562

NM_001358530.2(MOCS1):c.1080C>T (p.Gly360=)

SNV
Germline

Chr6:39909857

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA3796062

rs_766980859

2 SubmittersRCV001318278

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 SubmittersRCV001348053 RCV002547090 RCV005038108

NM_001358530.2(MOCS1):c.367C>T (p.Arg123Trp)

SNV
Germline

Chr6:39925729

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3796327

rs_779592342

4 SubmittersRCV001346725 RCV005416521

NM_001358530.2(MOCS1):c.11G>A (p.Arg4Gln)

SNV
Germline

Chr6:39934407

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3796509

rs_760690355

3 SubmittersRCV001345484 RCV003169673

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 SubmittersRCV002254637 RCV002548483

NM_001358530.2(MOCS1):c.815G>A (p.Arg272Gln)

SNV
Germline

Chr6:39912947

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3796141

rs_368776652

2 SubmittersRCV001372724 RCV005372686

NM_001358530.2(MOCS1):c.484C>T (p.Arg162Trp)

SNV
Germline

Chr6:39916167

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3796263

rs_746138504

5 SubmittersRCV001362070 RCV004587141 RCV004952817 RCV005225392

NM_001358530.2(MOCS1):c.981+1G>A

SNV
Germline

Chr6:39912263

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Multiple Submitters
No Conflicts

CA3796101

rs_759311241

3 SubmittersRCV001377537

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 SubmittersRCV002254649 RCV004731142

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_001358530.2(MOCS1):c.645+7C>T

SNV
Germline

Chr6:39913767

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Condition: not provided
not specified
MOCS1-related disorder

Criteria Provided
Conflicting Classifications

CA3796218

rs_112994296

4 SubmittersRCV001467136 RCV003334043 RCV004782743 RCV004743513

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 SubmittersRCV001619770 RCV004690120 RCV005094855

NM_001032386.2(SUOX):c.1382A>T (p.Asp461Val)

SNV
Germline

Chr12:56004771

Conflicting classifications of pathogenicity

Condition: not provided
Sulfite oxidase deficiency

Criteria Provided
Conflicting Classifications

CA6621161

rs_759255030

2 SubmittersRCV001751858 RCV003771925

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_020806.5(GPHN):c.828+1G>A

SNV
Germline

Chr14:66924293

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Multiple Submitters
No Conflicts

CA7233836

rs_533003321

3 SubmittersRCV001823444

NM_176806.4(MOCS2):c.45T>A (p.Ser15Arg)

SNV
Germline

Chr5:53108617

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Criteria Provided
Conflicting Classifications

CA3263814

rs_1554028127

5 SubmittersRCV002028663 RCV004699639 RCV003348747

NM_020806.5(GPHN):c.49G>A (p.Val17Ile)

SNV
Germline

Chr14:66508576

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7233596

rs_550187024

2 SubmittersRCV001997304 RCV003170132

NM_020806.5(GPHN):c.1413+2T>G

SNV
Germline

Chr14:67110261

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390258086

rs_2153685300

1 SubmittersRCV002024387

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_020806.5(GPHN):c.1234C>T (p.Arg412Ter)

SNV
Germline

Chr14:67089072

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390257350

rs_2153668310

1 SubmittersRCV001941687

NM_020806.5(GPHN):c.1975+2T>C

SNV
Germline

Chr14:67165228

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390121893

rs_2140003018

1 SubmittersRCV002050084

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 SubmittersRCV001950800 RCV002564374 RCV003987943 RCV005437447

NM_001358530.2(MOCS1):c.1150+1G>T

SNV
Germline

Chr6:39909054

Pathogenic/Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Multiple Submitters
No Conflicts

CA364041740

rs_2149398895

2 SubmittersRCV001886816

NM_001358530.2(MOCS1):c.955C>T (p.Arg319Ter)

SNV
Germline

Chr6:39912290

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Multiple Submitters
No Conflicts

CA3796105

rs_774902198

2 SubmittersRCV001958894

NM_001358530.2(MOCS1):c.268G>T (p.Glu90Ter)

SNV
Germline

Chr6:39925828

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

CA3796360

rs_147580725

1 SubmittersRCV002037865

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 SubmittersRCV001951201 RCV005032009

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_001358530.2(MOCS1):c.1102+2T>C

SNV
Germline

Chr6:39909833

Pathogenic/Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Multiple Submitters
No Conflicts

CA364042005

rs_1345407391

2 SubmittersRCV002016843

NM_020806.5(GPHN):c.277C>T (p.Arg93Ter)

SNV
Germline

Chr14:66824549

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390255576

rs_2061323841

1 SubmittersRCV001949542

NM_001358530.2(MOCS1):c.60C>A (p.Ser20Arg)

SNV
Germline

Chr6:39934358

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA364030622

rs_1208715055

2 SubmittersRCV002001875 RCV004946907

NM_001358530.2(MOCS1):c.1222C>T (p.Gln408Ter)

SNV
Germline

Chr6:39907046

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

CA3795981

rs_775830396

1 SubmittersRCV001914027

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_001358530.2(MOCS1):c.639T>G (p.Pro213=)

SNV
Germline

Chr6:39913780

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA450206058

rs_1260936028

2 SubmittersRCV002081500

NM_001358530.2(MOCS1):c.251-11C>A

SNV
Germline

Chr6:39925856

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA3796369

rs_377424990

2 SubmittersRCV002081574

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
SUOX-related disorder
Inborn genetic diseases
Sulfocysteinuria

Criteria Provided
Conflicting Classifications

CA6620963

rs_770389350

5 SubmittersRCV002571586 RCV003971303 RCV002571587 RCV004690301

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 SubmittersRCV003062521 RCV005622199

NM_020806.5(GPHN):c.1223G>A (p.Gly408Asp)

SNV
Germline

Chr14:67089061

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390257328

rs_2543059971

1 SubmittersRCV003062639

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 SubmittersRCV003085732 RCV005034647 RCV005406581

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 SubmittersRCV002610415 RCV005034723

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 SubmittersRCV002640725 RCV003333234

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_001358530.2(MOCS1):c.124-1G>C

SNV
Germline

Chr6:39927456

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Multiple Submitters
No Conflicts

CA364045212

rs_2482418550

2 SubmittersRCV002834075

NM_020806.5(GPHN):c.1237+2T>C

SNV
Germline

Chr14:67089077

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390257361

rs_2543060389

1 SubmittersRCV002825508

NM_001358530.2(MOCS1):c.1150G>T (p.Glu384Ter)

SNV
Germline

Chr6:39909055

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

CA364041745

rs_751603831

1 SubmittersRCV002825536

NM_020806.5(GPHN):c.144-1G>C

SNV
Germline

Chr14:66776463

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390255171

rs_2549068048

1 SubmittersRCV002861595

NM_001358530.2(MOCS1):c.109C>T (p.Arg37Ter)

SNV
Germline

Chr6:39934309

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

CA364030418

rs_1424748492

1 SubmittersRCV002852531

NM_020806.5(GPHN):c.168C>A (p.Tyr56Ter)

SNV
Germline

Chr14:66776488

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390255221

rs_2549068250

1 SubmittersRCV002957360

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 SubmittersRCV002927694 RCV005034493

NM_020806.5(GPHN):c.294+1G>T

SNV
Germline

Chr14:66824567

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390255638

rs_2549284450

1 SubmittersRCV003007806

NM_020806.5(GPHN):c.1702C>T (p.Gln568Ter)

SNV
Germline

Chr14:67122331

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390259260

rs_2543525337

1 SubmittersRCV003015783

NM_001358530.2(MOCS1):c.1103-1G>A

SNV
Germline

Chr6:39909103

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

CA364041946

rs_2482274768

1 SubmittersRCV003014419

NM_020806.5(GPHN):c.400G>A (p.Gly134Arg)

SNV
Germline

Chr14:66916013

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390255844

rs_2549597698

1 SubmittersRCV003025285

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.51-2A>C

SNV
Germline

Chr12:56002541

Likely pathogenic

Sulfocysteinuria
Sulfite oxidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA385278973

rs_1273768268

3 SubmittersRCV003324367 RCV005103902

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_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 SubmittersRCV003410568 RCV003638952

NM_001358530.2(MOCS1):c.1027C>T (p.Arg343Ter)

SNV
Germline

Chr6:39909910

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Multiple Submitters
No Conflicts

CA364042343

rs_746098961

3 SubmittersRCV003470159

NM_001358530.2(MOCS1):c.664C>T (p.Arg222Ter)

SNV
Germline

Chr6:39913410

Pathogenic/Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364044030

rs_1266681695

3 SubmittersRCV003461872 RCV005220719

NM_001358530.2(MOCS1):c.871-1G>A

SNV
Germline

Chr6:39912375

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Multiple Submitters
No Conflicts

CA364043299

rs_2482303357

2 SubmittersRCV003470162

NM_001358530.2(MOCS1):c.601G>T (p.Glu201Ter)

SNV
Unknown

Chr6:39913818

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

CA364044213

rs_1285930895

1 SubmittersRCV003470163

NM_001358530.2(MOCS1):c.949C>T (p.Arg317Cys)

SNV
Germline

Chr6:39912296

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Intellectual disability

Criteria Provided
Conflicting Classifications

CA137649773

rs_866399151

2 SubmittersRCV003470166 RCV005622237

NM_001358530.2(MOCS1):c.925G>T (p.Glu309Ter)

SNV
Germline

Chr6:39912320

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

CA364043091

rs_2482302899

1 SubmittersRCV003508087

NM_020806.5(GPHN):c.1472+1G>A

SNV
Germline

Chr14:67111920

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390258371

rs_2543395293

1 SubmittersRCV003506036

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 SubmittersRCV003524263 RCV003901114

NM_020806.5(GPHN):c.1156C>T (p.Arg386Ter)

SNV
Germline

Chr14:67088994

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390257176

rs_1352910925

1 SubmittersRCV003506252

NM_001358530.2(MOCS1):c.124-6T>G

SNV
Germline

Chr6:39927461

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3796436

rs_769669172

2 SubmittersRCV003508968 RCV004636777

NM_001358530.2(MOCS1):c.870+1G>T

SNV
Germline

Chr6:39912891

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

CA364043350

rs_2482307867

1 SubmittersRCV003508942

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_020806.5(GPHN):c.1834A>T (p.Lys612Ter)

SNV
Germline

Chr14:67143447

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390259672

rs_2543888962

1 SubmittersRCV003505631

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_020806.5(GPHN):c.1006+2T>C

SNV
Germline

Chr14:67023677

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390257141

rs_2542172605

1 SubmittersRCV003505739

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_001358530.2(MOCS1):c.1206G>A (p.Trp402Ter)

SNV
Germline

Chr6:39907062

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

CA364041168

rs_2482260672

1 SubmittersRCV003616611

NM_001358530.2(MOCS1):c.421C>T (p.Gln141Ter)

SNV
Germline

Chr6:39916230

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

CA137652795

rs_368942024

1 SubmittersRCV003616549

NM_020806.5(GPHN):c.904G>T (p.Glu302Ter)

SNV
Germline

Chr14:66965266

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390257522

rs_2549782519

1 SubmittersRCV003616586

NM_020806.5(GPHN):c.389+1G>A

SNV
Germline

Chr14:66880034

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390257023

rs_2549499286

1 SubmittersRCV003616660

NM_020806.5(GPHN):c.1473-1G>A

SNV
Germline

Chr14:67113017

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

CA390258431

rs_2543402445

1 SubmittersRCV003616823

NM_001358530.2(MOCS1):c.142C>T (p.Gln48Ter)

SNV
Germline

Chr6:39927437

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

CA364045172

rs_2482418384

1 SubmittersRCV003616777

NM_001358530.2(MOCS1):c.1276G>T (p.Gly426Ter)

SNV
Germline

Chr6:39906992

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

CA364040914

rs_777405686

1 SubmittersRCV003616936

NM_001358530.2(MOCS1):c.982-1G>A

SNV
Germline

Chr6:39909956

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

CA364042532

rs_2482284914

1 SubmittersRCV003616932

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_001358530.2(MOCS1):c.427C>T (p.Gln143Ter)

SNV
Unknown

Chr6:39916224

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

rs_2482337397

1 SubmittersRCV004576200

NM_001358530.2(MOCS1):c.768G>A (p.Trp256Ter)

SNV
Unknown

Chr6:39912994

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

rs_2482309436

1 SubmittersRCV004576202

NM_001358530.2(MOCS1):c.971G>A (p.Gly324Glu)

SNV
Germline

Chr6:39912274

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

1 SubmittersRCV004789706

NM_001358530.2(MOCS1):c.251-2A>G

SNV
Germline

Chr6:39925847

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

No Assertion Criteria Provided

1 SubmittersRCV004801484

NM_001358530.2(MOCS1):c.1150+21T>C

SNV
Germline

Chr6:39909034

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

1 SubmittersRCV005045676

NM_001358530.2(MOCS1):c.994G>T (p.Gly332Ter)

SNV
Germline

Chr6:39909943

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

1 SubmittersRCV005039741

NM_001358530.2(MOCS1):c.1103-1G>C

SNV
Germline

Chr6:39909103

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

1 SubmittersRCV005126481

NM_020806.5(GPHN):c.828+1G>T

SNV
Germline

Chr14:66924293

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

1 SubmittersRCV005173341

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_020806.5(GPHN):c.1463A>G (p.Gln488Arg)

SNV
Germline

Chr14:67111910

Pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Criteria Provided
Single Submitter

1 SubmittersRCV005195262

NM_001358530.2(MOCS1):c.124-1G>A

SNV
Germline

Chr6:39927456

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

1 SubmittersRCV005199692