Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
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_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 not specified Intellectual disability Inborn genetic diseases MOCS1-related disorder	Criteria Provided Conflicting Classifications	CA053157	rs_148579886	10 SubmittersRCV000416188 RCV000987692 RCV001354730 RCV001252080 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	11 SubmittersRCV000415797 RCV000714706 RCV001252317 RCV001354513 RCV002518405 RCV003907901
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_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_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_001358530.2(MOCS1):c.124-69G>A	SNV Germline	Chr6:39927524	Conflicting classifications of pathogenicity	Condition: not provided Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MOCS1-related disorder	Criteria Provided Conflicting Classifications	CA3796445	rs_45487695	6 SubmittersRCV000415763 RCV000605979 RCV003932539
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	6 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 not specified MOCS1-related disorder	Criteria Provided Conflicting Classifications	CA3796063	rs_143912353	8 SubmittersRCV000642134 RCV003222073 RCV003994058 RCV004742552
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_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 Glioma susceptibility 1 Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA3796074	rs_142478972	5 SubmittersRCV000798315 RCV003307448 RCV005901976 RCV005901977
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_001358530.2(MOCS1):c.377G>A (p.Gly126Asp)	SNV Germline	Chr6:39925719	Pathogenic/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_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_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_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	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Condition: not provided MOCS1-related disorder	Criteria Provided Conflicting Classifications	CA3796355	rs_145146059	5 SubmittersRCV001154617 RCV003433053 RCV003906274
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_001358530.2(MOCS1):c.253C>T (p.Gln85Ter)	SNV Germline	Chr6:39925843	Pathogenic	Condition: not provided MOCS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364044933	rs_1768262580	3 SubmittersRCV001169946 RCV003396782
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_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 Condition: not provided MOCS1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3796341	rs_757431407	5 SubmittersRCV001308726 RCV003326562 RCV003405528 RCV005372635
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_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_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_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_001358530.2(MOCS1):c.646-6G>A	SNV Germline	Chr6:39913434	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3796193	rs_764778534	4 SubmittersRCV001936605 RCV002563375
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_001358530.2(MOCS1):c.649A>T (p.Asn217Tyr)	SNV Germline	Chr6:39913425	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Conflicting Classifications	CA364044082	rs_1157838581	4 SubmittersRCV001955398
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 Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA364042005	rs_1345407391	3 SubmittersRCV002016843 RCV005925628
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_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_001358530.2(MOCS1):c.870+19G>A	SNV Germline	Chr6:39912873	Conflicting classifications of pathogenicity	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A not specified	Criteria Provided Conflicting Classifications	CA3796132	rs_370411582	2 SubmittersRCV002176819 RCV005925814
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_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_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_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_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 Combined molybdoflavoprotein enzyme deficiency	Criteria Provided Conflicting Classifications	CA137649773	rs_866399151	3 SubmittersRCV003470166 RCV005622237 RCV006455664
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_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_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_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_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.502C>T (p.Gln168Ter)	SNV Germline	Chr6:39916149	Pathogenic	Combined molybdoflavoprotein enzyme deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004703061
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 Multiple Submitters No Conflicts			2 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_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_001358530.2(MOCS1):c.250+2T>C	SNV Germline	Chr6:39927327	Likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Criteria Provided Single Submitter			1 SubmittersRCV006622933
NM_001358530.2(MOCS1):c.470G>A (p.Gly157Asp)	SNV Germline	Chr6:39916181	Likely pathogenic	Paediatric disorders	Criteria Provided Single Submitter			1 SubmittersRCV006652785

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_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
not specified
Intellectual disability
Inborn genetic diseases
MOCS1-related disorder

Criteria Provided
Conflicting Classifications

CA053157

rs_148579886

10 SubmittersRCV000416188 RCV000987692 RCV001354730 RCV001252080 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

11 SubmittersRCV000415797 RCV000714706 RCV001252317 RCV001354513 RCV002518405 RCV003907901

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

SNV
Germline

Chr6:39927524

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3796445

rs_45487695

6 SubmittersRCV000415763 RCV000605979 RCV003932539

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

6 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
not specified
MOCS1-related disorder

Criteria Provided
Conflicting Classifications

CA3796063

rs_143912353

8 SubmittersRCV000642134 RCV003222073 RCV003994058 RCV004742552

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_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
Glioma susceptibility 1
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA3796074

rs_142478972

5 SubmittersRCV000798315 RCV003307448 RCV005901976 RCV005901977

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_001358530.2(MOCS1):c.377G>A (p.Gly126Asp)

SNV
Germline

Chr6:39925719

Pathogenic/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_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_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_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

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

Criteria Provided
Conflicting Classifications

CA3796355

rs_145146059

5 SubmittersRCV001154617 RCV003433053 RCV003906274

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_001358530.2(MOCS1):c.253C>T (p.Gln85Ter)

SNV
Germline

Chr6:39925843

Pathogenic

Condition: not provided
MOCS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364044933

rs_1768262580

3 SubmittersRCV001169946 RCV003396782

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_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
Condition: not provided
MOCS1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3796341

rs_757431407

5 SubmittersRCV001308726 RCV003326562 RCV003405528 RCV005372635

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_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_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_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_001358530.2(MOCS1):c.646-6G>A

SNV
Germline

Chr6:39913434

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3796193

rs_764778534

4 SubmittersRCV001936605 RCV002563375

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_001358530.2(MOCS1):c.649A>T (p.Asn217Tyr)

SNV
Germline

Chr6:39913425

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Conflicting Classifications

CA364044082

rs_1157838581

4 SubmittersRCV001955398

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
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA364042005

rs_1345407391

3 SubmittersRCV002016843 RCV005925628

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_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_001358530.2(MOCS1):c.870+19G>A

SNV
Germline

Chr6:39912873

Conflicting classifications of pathogenicity

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
not specified

Criteria Provided
Conflicting Classifications

CA3796132

rs_370411582

2 SubmittersRCV002176819 RCV005925814

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_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_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_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_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
Combined molybdoflavoprotein enzyme deficiency

Criteria Provided
Conflicting Classifications

CA137649773

rs_866399151

3 SubmittersRCV003470166 RCV005622237 RCV006455664

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_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_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_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_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.502C>T (p.Gln168Ter)

SNV
Germline

Chr6:39916149

Pathogenic

Combined molybdoflavoprotein enzyme deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004703061

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
Multiple Submitters
No Conflicts

2 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_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_001358530.2(MOCS1):c.250+2T>C

SNV
Germline

Chr6:39927327

Likely pathogenic

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Criteria Provided
Single Submitter

1 SubmittersRCV006622933

NM_001358530.2(MOCS1):c.470G>A (p.Gly157Asp)

SNV
Germline

Chr6:39916181

Likely pathogenic

Paediatric disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006652785