Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_182760.4(SUMF1):c.1076C>A (p.Ser359Ter)	SNV Germline	Chr3:4362193	Pathogenic	Multiple sulfatase deficiency	No Assertion Criteria Provided	CA115667	rs_137852844	1 SubmittersRCV000002783
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter)	SNV Germline	Chr3:4376365	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA115669	rs_137852845	5 SubmittersRCV000002784
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp)	SNV Germline	Chr3:4362224	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115671	rs_137852846	8 SubmittersRCV000002785 RCV001582462
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln)	SNV Germline	Chr3:4362223	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115672	rs_137852847	5 SubmittersRCV000002786 RCV002243616
NM_182760.4(SUMF1):c.1006T>C (p.Cys336Arg)	SNV Germline	Chr3:4376338	Pathogenic	Multiple sulfatase deficiency	No Assertion Criteria Provided	CA115673	rs_137852848	1 SubmittersRCV000002787
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)	SNV Germline	Chr3:4417132	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115674	rs_137852849	17 SubmittersRCV000002788 RCV000082716
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)	SNV Germline	Chr3:4449322	Pathogenic	Multiple sulfatase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115675	rs_137852850	13 SubmittersRCV000002791 RCV000082715
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg)	SNV Germline	Chr3:4467244	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA115676	rs_137852851	3 SubmittersRCV000002792
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys)	SNV Germline	Chr3:4362236	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA115678	rs_137852852	5 SubmittersRCV000002794
NM_182760.4(SUMF1):c.1042G>C (p.Ala348Pro)	SNV Germline	Chr3:4362227	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA115679	rs_137852853	2 SubmittersRCV000002795
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr)	SNV Germline	Chr3:4418082	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA115680	rs_137852854	3 SubmittersRCV000002796
NM_182760.4(SUMF1):c.1A>G (p.Met1Val)	SNV Germline	Chr3:4467245	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA115681	rs_137852855	3 SubmittersRCV000002798
NM_182760.4(SUMF1):c.788G>T (p.Gly263Val)	SNV Germline	Chr3:4417180	Pathogenic	Multiple sulfatase deficiency	No Assertion Criteria Provided	CA129397	rs_387906976	2 SubmittersRCV000023667
NM_182760.4(SUMF1):c.337G>A (p.Glu113Lys)	SNV Germline	Chr3:4452983	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351793307	rs_1085307107	3 SubmittersRCV000490557 RCV003327381
NM_182760.4(SUMF1):c.891C>T (p.Asn297=)	SNV Germline	Chr3:4410928	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency not specified	Criteria Provided Conflicting Classifications	CA2230406	rs_143754187	5 SubmittersRCV000340011 RCV002282122
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)	SNV Germline	Chr3:4418071	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency Condition: not provided SUMF1-related disorder	Criteria Provided Conflicting Classifications	CA2230505	rs_137917233	12 SubmittersRCV000286229 RCV001573460 RCV003969995
NM_182760.4(SUMF1):c.602+12C>T	SNV Germline	Chr3:4420052	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA2230541	rs_200971871	2 SubmittersRCV000299160
NM_182760.4(SUMF1):c.519A>G (p.Ala173=)	SNV Germline	Chr3:4449266	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2230581	rs_146050361	5 SubmittersRCV000356243 RCV000906209
NM_182760.4(SUMF1):c.271-7A>G	SNV Germline	Chr3:4453056	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA2230649	rs_371283922	2 SubmittersRCV000368642
NM_182760.4(SUMF1):c.177C>T (p.Gly59=)	SNV Germline	Chr3:4467069	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA2230701	rs_774739457	2 SubmittersRCV000328073
NM_182760.4(SUMF1):c.955-6C>G	SNV Germline	Chr3:4376395	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA10618840	rs_886058518	2 SubmittersRCV000289872
NM_182760.4(SUMF1):c.606G>A (p.Pro202=)	SNV Germline	Chr3:4418129	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA2230520	rs_141957829	4 SubmittersRCV000343535
NM_182760.4(SUMF1):c.179C>T (p.Ala60Val)	SNV Germline	Chr3:4467067	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA10618843	rs_886058521	2 SubmittersRCV000270617
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg)	SNV Germline	Chr3:4417229	Likely pathogenic	Multiple sulfatase deficiency	No Assertion Criteria Provided	CA16040928	rs_1057517363	2 SubmittersRCV000412333
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)	SNV Germline	Chr3:4417183	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA16617969	rs_1064793391	7 SubmittersRCV000481019 RCV000624193 RCV000723283
NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter)	SNV Germline	Chr3:4420124	Pathogenic	Multiple sulfatase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351632978	rs_1553575867	3 SubmittersRCV000578288 RCV001169981
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe)	SNV Germline	Chr3:4467188	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2230729	rs_200142963	4 SubmittersRCV000668038 RCV003226355 RCV003325511
NM_182760.4(SUMF1):c.244G>T (p.Gly82Ter)	SNV Unknown	Chr3:4467002	Likely pathogenic	Multiple sulfatase deficiency	No Assertion Criteria Provided	CA351794132	rs_986500427	1 SubmittersRCV000673785
NM_182760.4(SUMF1):c.890A>C (p.Asn297Thr)	SNV Germline	Chr3:4410929	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA2230407	rs_749715515	2 SubmittersRCV000809820
NM_182760.4(SUMF1):c.659G>A (p.Trp220Ter)	SNV Germline	Chr3:4418076	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351632673	rs_1575197564	1 SubmittersRCV000791660
NM_182760.4(SUMF1):c.266C>G (p.Ser89Ter)	SNV Germline	Chr3:4466980	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351794087	rs_1575266034	1 SubmittersRCV000801125
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro)	SNV Germline	Chr3:4467035	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2230690	rs_201984297	5 SubmittersRCV000919538 RCV001593130
NM_182760.4(SUMF1):c.16C>T (p.Leu6=)	SNV Germline	Chr3:4467230	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA2230748	rs_774160105	4 SubmittersRCV000978762
NM_182760.4(SUMF1):c.602+1G>A	SNV Germline	Chr3:4420063	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA2230544	rs_143616931	4 SubmittersRCV001061485
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)	SNV Germline	Chr3:4449338	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA2230594	rs_750372409	4 SubmittersRCV001150136
NM_182760.4(SUMF1):c.45G>A (p.Glu15=)	SNV Germline	Chr3:4467201	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA432449793	rs_1460272243	3 SubmittersRCV001145901
NM_182760.4(SUMF1):c.30T>C (p.Cys10=)	SNV Germline	Chr3:4467216	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA2230740	rs_746169425	2 SubmittersRCV001145902
NM_182760.4(SUMF1):c.1014+12C>T	SNV Germline	Chr3:4376318	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA2230363	rs_776947608	2 SubmittersRCV001145803
NM_182760.4(SUMF1):c.726-14G>T	SNV Germline	Chr3:4417256	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA2230470	rs_370793169	2 SubmittersRCV001148571
NM_182760.4(SUMF1):c.392T>G (p.Val131Gly)	SNV Unknown	Chr3:4452928	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351793185	rs_1703021709	1 SubmittersRCV001170031
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)	SNV Germline	Chr3:4467055	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351794227	rs_1421066733	4 SubmittersRCV001192683 RCV004792779
NM_182760.4(SUMF1):c.726-1G>A	SNV Germline	Chr3:4417243	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351632221	rs_1215549413	1 SubmittersRCV001236822
NM_182760.4(SUMF1):c.954+1G>T	SNV Germline	Chr3:4410864	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351631126	rs_1701516867	2 SubmittersRCV001243482
NM_182760.4(SUMF1):c.464C>T (p.Ser155Phe)	SNV Germline	Chr3:4449321	Conflicting classifications of pathogenicity	Inborn genetic diseases Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA351793007	rs_1702889459	4 SubmittersRCV001265851 RCV001830067
NM_182760.4(SUMF1):c.529G>C (p.Ala177Pro)	SNV Germline	Chr3:4420137	Pathogenic	Condition: not provided Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351633036	rs_1359106679	3 SubmittersRCV001268251 RCV001880164
NM_182760.4(SUMF1):c.818A>G (p.Asp273Gly)	SNV Germline	Chr3:4417150	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA68802149	rs_772711848	3 SubmittersRCV001330572
NM_182760.4(SUMF1):c.903G>A (p.Trp301Ter)	SNV Germline	Chr3:4410916	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351631306	rs_1274564118	1 SubmittersRCV001939841
NM_182760.4(SUMF1):c.726-1G>C	SNV Germline	Chr3:4417243	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351632220	rs_1215549413	1 SubmittersRCV001378446
NM_182760.4(SUMF1):c.603-1G>C	SNV Germline	Chr3:4418133	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351632810	rs_2125035926	1 SubmittersRCV001378911
NM_182760.4(SUMF1):c.445-1G>A	SNV Germline	Chr3:4449341	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351793053	rs_1237016251	3 SubmittersRCV001378037
NM_182760.4(SUMF1):c.511C>T (p.Gln171Ter)	SNV Germline	Chr3:4449274	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351792904	rs_1702887095	2 SubmittersRCV001389988
NM_182760.4(SUMF1):c.451A>T (p.Lys151Ter)	SNV Germline	Chr3:4449334	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351793036	rs_2125124343	1 SubmittersRCV001390846
NM_182760.4(SUMF1):c.43G>T (p.Glu15Ter)	SNV Germline	Chr3:4467203	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351794676	rs_1350782911	1 SubmittersRCV001385574
NM_182760.4(SUMF1):c.866A>G (p.Tyr289Cys)	SNV Germline	Chr3:4410953	Conflicting classifications of pathogenicity	Condition: not provided Multiple sulfatase deficiency not specified	Criteria Provided Conflicting Classifications	CA2230415	rs_772860745	3 SubmittersRCV001767379 RCV001861097 RCV005408995
NM_182760.4(SUMF1):c.706C>T (p.Arg236Ter)	SNV Germline	Chr3:4418029	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA2230496	rs_748169616	3 SubmittersRCV001785032
NM_182760.4(SUMF1):c.445-2A>G	SNV Germline	Chr3:4449342	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351793056	rs_1293658639	2 SubmittersRCV001785033
NM_182760.4(SUMF1):c.860A>T (p.Asn287Ile)	SNV Germline	Chr3:4410959	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency not specified	Criteria Provided Conflicting Classifications	CA351631493	rs_766298096	3 SubmittersRCV001797855 RCV004690133
NM_182760.4(SUMF1):c.935T>C (p.Val312Ala)	SNV Germline	Chr3:4410884	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA351631168	rs_1701517964	2 SubmittersRCV001993042 RCV004970647
NM_182760.4(SUMF1):c.150C>A (p.Cys50Ter)	SNV Germline	Chr3:4467096	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351794309	rs_761237429	1 SubmittersRCV001941755
NM_182760.4(SUMF1):c.896G>A (p.Trp299Ter)	SNV Germline	Chr3:4410923	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351631340	rs_1559281733	2 SubmittersRCV001900448
NM_182760.4(SUMF1):c.954+1G>A	SNV Germline	Chr3:4410864	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351631128	rs_1701516867	1 SubmittersRCV002045786
NM_182760.4(SUMF1):c.451A>G (p.Lys151Glu)	SNV Germline	Chr3:4449334	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency not specified	Criteria Provided Conflicting Classifications	CA351793037	rs_2125124343	2 SubmittersRCV001973859 RCV004801117
NM_182760.4(SUMF1):c.955-1G>T	SNV Germline	Chr3:4376390	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351628408	rs_1247498705	1 SubmittersRCV002020489
NM_182760.4(SUMF1):c.537G>A (p.Trp179Ter)	SNV Germline	Chr3:4420129	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351633007	rs_2125042060	1 SubmittersRCV001884905
NM_182760.4(SUMF1):c.539G>A (p.Trp180Ter)	SNV Germline	Chr3:4420127	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351632994	rs_1419925001	1 SubmittersRCV002000148
NM_182760.4(SUMF1):c.1034G>A (p.Arg345His)	SNV Germline	Chr3:4362235	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2230333	rs_139267495	3 SubmittersRCV001926683 RCV003159221 RCV004970552
NM_182760.4(SUMF1):c.156C>A (p.Cys52Ter)	SNV Germline	Chr3:4467090	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351794297	rs_2124823466	1 SubmittersRCV001876317
NM_182760.4(SUMF1):c.841-2A>T	SNV Germline	Chr3:4410980	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351631580	rs_1487159473	1 SubmittersRCV001994379
NM_182760.4(SUMF1):c.790G>T (p.Glu264Ter)	SNV Germline	Chr3:4417178	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351632072	rs_754069091	1 SubmittersRCV001972381
NM_182760.4(SUMF1):c.826C>T (p.Gln276Ter)	SNV Germline	Chr3:4417142	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351631997	rs_1478570923	2 SubmittersRCV001948565
NM_182760.4(SUMF1):c.632G>A (p.Trp211Ter)	SNV Germline	Chr3:4418103	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351632748	rs_1701775522	1 SubmittersRCV001951429
NM_182760.4(SUMF1):c.876C>G (p.Tyr292Ter)	SNV Germline	Chr3:4410943	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351631436	rs_369648085	1 SubmittersRCV001951461
NM_182760.4(SUMF1):c.603-2A>T	SNV Germline	Chr3:4418134	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351632813	rs_2125035931	1 SubmittersRCV001881074
NM_182760.4(SUMF1):c.233G>A (p.Gly78Asp)	SNV Germline	Chr3:4467013	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2230684	rs_753398300	3 SubmittersRCV001895222 RCV002552328
NM_182760.4(SUMF1):c.776A>T (p.Asn259Ile)	SNV Germline	Chr3:4417192	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA2230462	rs_764215221	2 SubmittersRCV002027307
NM_182760.4(SUMF1):c.670C>T (p.Arg224Trp)	SNV Germline	Chr3:4418065	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2230503	rs_759888604	2 SubmittersRCV002027308 RCV002512170
NM_182760.4(SUMF1):c.416T>G (p.Phe139Cys)	SNV Germline	Chr3:4452904	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA2230623	rs_746433657	1 SubmittersRCV002221885
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)	SNV Germline	Chr3:4420130	Conflicting classifications of pathogenicity	Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA2230557	rs_757323641	3 SubmittersRCV002283890
NM_182760.4(SUMF1):c.271-1G>C	SNV Germline	Chr3:4453050	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA2230647	rs_376109464	1 SubmittersRCV003052733
NM_182760.4(SUMF1):c.955-2A>G	SNV Germline	Chr3:4376391	Likely pathogenic	Multiple sulfatase deficiency SUMF1-related disorder	Criteria Provided Single Submitter	CA351628416	rs_1349733778	2 SubmittersRCV002599655 RCV003898856
NM_182760.4(SUMF1):c.954+5G>T	SNV Germline	Chr3:4410860	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA2580069145	rs_2469825284	1 SubmittersRCV002664291
NM_182760.4(SUMF1):c.1023T>A (p.Cys341Ter)	SNV Germline	Chr3:4362246	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351626604	rs_2470778411	1 SubmittersRCV003002423
NM_182760.4(SUMF1):c.908C>G (p.Ser303Ter)	SNV Germline	Chr3:4410911	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351631281	rs_2469825743	1 SubmittersRCV003012480
NM_182760.4(SUMF1):c.182A>G (p.His61Arg)	SNV Germline	Chr3:4467064	Conflicting classifications of pathogenicity	Inborn genetic diseases Multiple sulfatase deficiency	Criteria Provided Conflicting Classifications	CA351794246	rs_1334585480	2 SubmittersRCV002906313 RCV003777946
NM_182760.4(SUMF1):c.247G>T (p.Glu83Ter)	SNV Germline	Chr3:4466999	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351794127	rs_2470078244	1 SubmittersRCV003498230
NM_182760.4(SUMF1):c.1046G>C (p.Arg349Pro)	SNV Germline	Chr3:4362223	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency Spinocerebellar ataxia type 15/16	Criteria Provided Multiple Submitters No Conflicts	CA351626505	rs_137852847	2 SubmittersRCV003499920 RCV003992777
NM_182760.4(SUMF1):c.602+1G>T	SNV Germline	Chr3:4420063	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351632819	rs_143616931	1 SubmittersRCV003497744
NM_182760.4(SUMF1):c.536G>A (p.Trp179Ter)	SNV Germline	Chr3:4420130	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351633009	rs_757323641	1 SubmittersRCV003497635
NM_182760.4(SUMF1):c.39C>A (p.Cys13Ter)	SNV Germline	Chr3:4467207	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351794684	rs_749445028	1 SubmittersRCV003498683
NM_182760.4(SUMF1):c.103C>T (p.Gln35Ter)	SNV Germline	Chr3:4467143	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351794503	rs_1420137773	1 SubmittersRCV003606750
NM_182760.4(SUMF1):c.840+1G>A	SNV Germline	Chr3:4417127	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351631968	rs_2469852897	2 SubmittersRCV003818869
NM_182760.4(SUMF1):c.784C>T (p.Gln262Ter)	SNV Germline	Chr3:4417184	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351632085	rs_2469853388	1 SubmittersRCV003830418
NM_182760.4(SUMF1):c.692G>A (p.Trp231Ter)	SNV Germline	Chr3:4418043	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351632513	rs_2469858111	1 SubmittersRCV003852505
NM_182760.4(SUMF1):c.868G>C (p.Gly290Arg)	SNV Germline	Chr3:4410951	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter	CA351631468	rs_2469826202	1 SubmittersRCV003990377
NM_182760.4(SUMF1):c.817G>A (p.Asp273Asn)	SNV Germline	Chr3:4417151	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA2230449	rs_769349880	2 SubmittersRCV004579627
NM_182760.4(SUMF1):c.1042G>T (p.Ala348Ser)	SNV Germline	Chr3:4362227	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004690553
NM_182760.4(SUMF1):c.266C>A (p.Ser89Ter)	SNV Germline	Chr3:4466980	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004766701
NM_182760.4(SUMF1):c.689A>G (p.Glu230Gly)	SNV Germline	Chr3:4418046	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004799116
NM_182760.4(SUMF1):c.940G>T (p.Glu314Ter)	SNV Germline	Chr3:4410879	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005035322
NM_182760.4(SUMF1):c.914G>A (p.Trp305Ter)	SNV Germline	Chr3:4410905	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005024613
NM_182760.4(SUMF1):c.603-1G>T	SNV Germline	Chr3:4418133	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005035323
NM_182760.4(SUMF1):c.563G>A (p.Trp188Ter)	SNV Germline	Chr3:4420103	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005035324
NM_182760.4(SUMF1):c.520-1G>C	SNV Germline	Chr3:4420147	Likely pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005024615
NM_182760.4(SUMF1):c.387T>A (p.Tyr129Ter)	SNV Germline	Chr3:4452933	Pathogenic	Multiple sulfatase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005122620
NM_182760.4(SUMF1):c.1015-2A>C	SNV Germline	Chr3:4362256	Likely pathogenic	Multiple sulfatase deficiency	No Assertion Criteria Provided			1 SubmittersRCV005611983

NM_182760.4(SUMF1):c.1076C>A (p.Ser359Ter)

SNV
Germline

Chr3:4362193

Pathogenic

Multiple sulfatase deficiency

No Assertion Criteria Provided

CA115667

rs_137852844

1 SubmittersRCV000002783

NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter)

SNV
Germline

Chr3:4376365

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA115669

rs_137852845

5 SubmittersRCV000002784

NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp)

SNV
Germline

Chr3:4362224

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115671

rs_137852846

8 SubmittersRCV000002785 RCV001582462

NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln)

SNV
Germline

Chr3:4362223

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115672

rs_137852847

5 SubmittersRCV000002786 RCV002243616

NM_182760.4(SUMF1):c.1006T>C (p.Cys336Arg)

SNV
Germline

Chr3:4376338

Pathogenic

Multiple sulfatase deficiency

No Assertion Criteria Provided

CA115673

rs_137852848

1 SubmittersRCV000002787

NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)

SNV
Germline

Chr3:4417132

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115674

rs_137852849

17 SubmittersRCV000002788 RCV000082716

NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)

SNV
Germline

Chr3:4449322

Pathogenic

Multiple sulfatase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115675

rs_137852850

13 SubmittersRCV000002791 RCV000082715

NM_182760.4(SUMF1):c.2T>G (p.Met1Arg)

SNV
Germline

Chr3:4467244

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA115676

rs_137852851

3 SubmittersRCV000002792

NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys)

SNV
Germline

Chr3:4362236

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA115678

rs_137852852

5 SubmittersRCV000002794

NM_182760.4(SUMF1):c.1042G>C (p.Ala348Pro)

SNV
Germline

Chr3:4362227

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA115679

rs_137852853

2 SubmittersRCV000002795

NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr)

SNV
Germline

Chr3:4418082

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA115680

rs_137852854

3 SubmittersRCV000002796

NM_182760.4(SUMF1):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:4467245

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA115681

rs_137852855

3 SubmittersRCV000002798

NM_182760.4(SUMF1):c.788G>T (p.Gly263Val)

SNV
Germline

Chr3:4417180

Pathogenic

Multiple sulfatase deficiency

No Assertion Criteria Provided

CA129397

rs_387906976

2 SubmittersRCV000023667

NM_182760.4(SUMF1):c.337G>A (p.Glu113Lys)

SNV
Germline

Chr3:4452983

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351793307

rs_1085307107

3 SubmittersRCV000490557 RCV003327381

NM_182760.4(SUMF1):c.891C>T (p.Asn297=)

SNV
Germline

Chr3:4410928

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA2230406

rs_143754187

5 SubmittersRCV000340011 RCV002282122

NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)

SNV
Germline

Chr3:4418071

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency
Condition: not provided
SUMF1-related disorder

Criteria Provided
Conflicting Classifications

CA2230505

rs_137917233

12 SubmittersRCV000286229 RCV001573460 RCV003969995

NM_182760.4(SUMF1):c.602+12C>T

SNV
Germline

Chr3:4420052

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA2230541

rs_200971871

2 SubmittersRCV000299160

NM_182760.4(SUMF1):c.519A>G (p.Ala173=)

SNV
Germline

Chr3:4449266

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2230581

rs_146050361

5 SubmittersRCV000356243 RCV000906209

NM_182760.4(SUMF1):c.271-7A>G

SNV
Germline

Chr3:4453056

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA2230649

rs_371283922

2 SubmittersRCV000368642

NM_182760.4(SUMF1):c.177C>T (p.Gly59=)

SNV
Germline

Chr3:4467069

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA2230701

rs_774739457

2 SubmittersRCV000328073

NM_182760.4(SUMF1):c.955-6C>G

SNV
Germline

Chr3:4376395

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA10618840

rs_886058518

2 SubmittersRCV000289872

NM_182760.4(SUMF1):c.606G>A (p.Pro202=)

SNV
Germline

Chr3:4418129

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA2230520

rs_141957829

4 SubmittersRCV000343535

NM_182760.4(SUMF1):c.179C>T (p.Ala60Val)

SNV
Germline

Chr3:4467067

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA10618843

rs_886058521

2 SubmittersRCV000270617

NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg)

SNV
Germline

Chr3:4417229

Likely pathogenic

Multiple sulfatase deficiency

No Assertion Criteria Provided

CA16040928

rs_1057517363

2 SubmittersRCV000412333

NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)

SNV
Germline

Chr3:4417183

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA16617969

rs_1064793391

7 SubmittersRCV000481019 RCV000624193 RCV000723283

NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter)

SNV
Germline

Chr3:4420124

Pathogenic

Multiple sulfatase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351632978

rs_1553575867

3 SubmittersRCV000578288 RCV001169981

NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe)

SNV
Germline

Chr3:4467188

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2230729

rs_200142963

4 SubmittersRCV000668038 RCV003226355 RCV003325511

NM_182760.4(SUMF1):c.244G>T (p.Gly82Ter)

SNV
Unknown

Chr3:4467002

Likely pathogenic

Multiple sulfatase deficiency

No Assertion Criteria Provided

CA351794132

rs_986500427

1 SubmittersRCV000673785

NM_182760.4(SUMF1):c.890A>C (p.Asn297Thr)

SNV
Germline

Chr3:4410929

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA2230407

rs_749715515

2 SubmittersRCV000809820

NM_182760.4(SUMF1):c.659G>A (p.Trp220Ter)

SNV
Germline

Chr3:4418076

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351632673

rs_1575197564

1 SubmittersRCV000791660

NM_182760.4(SUMF1):c.266C>G (p.Ser89Ter)

SNV
Germline

Chr3:4466980

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351794087

rs_1575266034

1 SubmittersRCV000801125

NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro)

SNV
Germline

Chr3:4467035

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2230690

rs_201984297

5 SubmittersRCV000919538 RCV001593130

NM_182760.4(SUMF1):c.16C>T (p.Leu6=)

SNV
Germline

Chr3:4467230

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA2230748

rs_774160105

4 SubmittersRCV000978762

NM_182760.4(SUMF1):c.602+1G>A

SNV
Germline

Chr3:4420063

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA2230544

rs_143616931

4 SubmittersRCV001061485

NM_182760.4(SUMF1):c.447T>C (p.Ala149=)

SNV
Germline

Chr3:4449338

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA2230594

rs_750372409

4 SubmittersRCV001150136

NM_182760.4(SUMF1):c.45G>A (p.Glu15=)

SNV
Germline

Chr3:4467201

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA432449793

rs_1460272243

3 SubmittersRCV001145901

NM_182760.4(SUMF1):c.30T>C (p.Cys10=)

SNV
Germline

Chr3:4467216

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA2230740

rs_746169425

2 SubmittersRCV001145902

NM_182760.4(SUMF1):c.1014+12C>T

SNV
Germline

Chr3:4376318

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA2230363

rs_776947608

2 SubmittersRCV001145803

NM_182760.4(SUMF1):c.726-14G>T

SNV
Germline

Chr3:4417256

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA2230470

rs_370793169

2 SubmittersRCV001148571

NM_182760.4(SUMF1):c.392T>G (p.Val131Gly)

SNV
Unknown

Chr3:4452928

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351793185

rs_1703021709

1 SubmittersRCV001170031

NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)

SNV
Germline

Chr3:4467055

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351794227

rs_1421066733

4 SubmittersRCV001192683 RCV004792779

NM_182760.4(SUMF1):c.726-1G>A

SNV
Germline

Chr3:4417243

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351632221

rs_1215549413

1 SubmittersRCV001236822

NM_182760.4(SUMF1):c.954+1G>T

SNV
Germline

Chr3:4410864

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351631126

rs_1701516867

2 SubmittersRCV001243482

NM_182760.4(SUMF1):c.464C>T (p.Ser155Phe)

SNV
Germline

Chr3:4449321

Conflicting classifications of pathogenicity

Inborn genetic diseases
Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA351793007

rs_1702889459

4 SubmittersRCV001265851 RCV001830067

NM_182760.4(SUMF1):c.529G>C (p.Ala177Pro)

SNV
Germline

Chr3:4420137

Pathogenic

Condition: not provided
Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351633036

rs_1359106679

3 SubmittersRCV001268251 RCV001880164

NM_182760.4(SUMF1):c.818A>G (p.Asp273Gly)

SNV
Germline

Chr3:4417150

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA68802149

rs_772711848

3 SubmittersRCV001330572

NM_182760.4(SUMF1):c.903G>A (p.Trp301Ter)

SNV
Germline

Chr3:4410916

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351631306

rs_1274564118

1 SubmittersRCV001939841

NM_182760.4(SUMF1):c.726-1G>C

SNV
Germline

Chr3:4417243

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351632220

rs_1215549413

1 SubmittersRCV001378446

NM_182760.4(SUMF1):c.603-1G>C

SNV
Germline

Chr3:4418133

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351632810

rs_2125035926

1 SubmittersRCV001378911

NM_182760.4(SUMF1):c.445-1G>A

SNV
Germline

Chr3:4449341

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351793053

rs_1237016251

3 SubmittersRCV001378037

NM_182760.4(SUMF1):c.511C>T (p.Gln171Ter)

SNV
Germline

Chr3:4449274

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351792904

rs_1702887095

2 SubmittersRCV001389988

NM_182760.4(SUMF1):c.451A>T (p.Lys151Ter)

SNV
Germline

Chr3:4449334

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351793036

rs_2125124343

1 SubmittersRCV001390846

NM_182760.4(SUMF1):c.43G>T (p.Glu15Ter)

SNV
Germline

Chr3:4467203

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351794676

rs_1350782911

1 SubmittersRCV001385574

NM_182760.4(SUMF1):c.866A>G (p.Tyr289Cys)

SNV
Germline

Chr3:4410953

Conflicting classifications of pathogenicity

Condition: not provided
Multiple sulfatase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA2230415

rs_772860745

3 SubmittersRCV001767379 RCV001861097 RCV005408995

NM_182760.4(SUMF1):c.706C>T (p.Arg236Ter)

SNV
Germline

Chr3:4418029

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA2230496

rs_748169616

3 SubmittersRCV001785032

NM_182760.4(SUMF1):c.445-2A>G

SNV
Germline

Chr3:4449342

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351793056

rs_1293658639

2 SubmittersRCV001785033

NM_182760.4(SUMF1):c.860A>T (p.Asn287Ile)

SNV
Germline

Chr3:4410959

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA351631493

rs_766298096

3 SubmittersRCV001797855 RCV004690133

NM_182760.4(SUMF1):c.935T>C (p.Val312Ala)

SNV
Germline

Chr3:4410884

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA351631168

rs_1701517964

2 SubmittersRCV001993042 RCV004970647

NM_182760.4(SUMF1):c.150C>A (p.Cys50Ter)

SNV
Germline

Chr3:4467096

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351794309

rs_761237429

1 SubmittersRCV001941755

NM_182760.4(SUMF1):c.896G>A (p.Trp299Ter)

SNV
Germline

Chr3:4410923

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351631340

rs_1559281733

2 SubmittersRCV001900448

NM_182760.4(SUMF1):c.954+1G>A

SNV
Germline

Chr3:4410864

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351631128

rs_1701516867

1 SubmittersRCV002045786

NM_182760.4(SUMF1):c.451A>G (p.Lys151Glu)

SNV
Germline

Chr3:4449334

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA351793037

rs_2125124343

2 SubmittersRCV001973859 RCV004801117

NM_182760.4(SUMF1):c.955-1G>T

SNV
Germline

Chr3:4376390

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351628408

rs_1247498705

1 SubmittersRCV002020489

NM_182760.4(SUMF1):c.537G>A (p.Trp179Ter)

SNV
Germline

Chr3:4420129

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351633007

rs_2125042060

1 SubmittersRCV001884905

NM_182760.4(SUMF1):c.539G>A (p.Trp180Ter)

SNV
Germline

Chr3:4420127

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351632994

rs_1419925001

1 SubmittersRCV002000148

NM_182760.4(SUMF1):c.1034G>A (p.Arg345His)

SNV
Germline

Chr3:4362235

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2230333

rs_139267495

3 SubmittersRCV001926683 RCV003159221 RCV004970552

NM_182760.4(SUMF1):c.156C>A (p.Cys52Ter)

SNV
Germline

Chr3:4467090

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351794297

rs_2124823466

1 SubmittersRCV001876317

NM_182760.4(SUMF1):c.841-2A>T

SNV
Germline

Chr3:4410980

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351631580

rs_1487159473

1 SubmittersRCV001994379

NM_182760.4(SUMF1):c.790G>T (p.Glu264Ter)

SNV
Germline

Chr3:4417178

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351632072

rs_754069091

1 SubmittersRCV001972381

NM_182760.4(SUMF1):c.826C>T (p.Gln276Ter)

SNV
Germline

Chr3:4417142

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351631997

rs_1478570923

2 SubmittersRCV001948565

NM_182760.4(SUMF1):c.632G>A (p.Trp211Ter)

SNV
Germline

Chr3:4418103

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351632748

rs_1701775522

1 SubmittersRCV001951429

NM_182760.4(SUMF1):c.876C>G (p.Tyr292Ter)

SNV
Germline

Chr3:4410943

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351631436

rs_369648085

1 SubmittersRCV001951461

NM_182760.4(SUMF1):c.603-2A>T

SNV
Germline

Chr3:4418134

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351632813

rs_2125035931

1 SubmittersRCV001881074

NM_182760.4(SUMF1):c.233G>A (p.Gly78Asp)

SNV
Germline

Chr3:4467013

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2230684

rs_753398300

3 SubmittersRCV001895222 RCV002552328

NM_182760.4(SUMF1):c.776A>T (p.Asn259Ile)

SNV
Germline

Chr3:4417192

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA2230462

rs_764215221

2 SubmittersRCV002027307

NM_182760.4(SUMF1):c.670C>T (p.Arg224Trp)

SNV
Germline

Chr3:4418065

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2230503

rs_759888604

2 SubmittersRCV002027308 RCV002512170

NM_182760.4(SUMF1):c.416T>G (p.Phe139Cys)

SNV
Germline

Chr3:4452904

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA2230623

rs_746433657

1 SubmittersRCV002221885

NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)

SNV
Germline

Chr3:4420130

Conflicting classifications of pathogenicity

Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA2230557

rs_757323641

3 SubmittersRCV002283890

NM_182760.4(SUMF1):c.271-1G>C

SNV
Germline

Chr3:4453050

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA2230647

rs_376109464

1 SubmittersRCV003052733

NM_182760.4(SUMF1):c.955-2A>G

SNV
Germline

Chr3:4376391

Likely pathogenic

Multiple sulfatase deficiency
SUMF1-related disorder

Criteria Provided
Single Submitter

CA351628416

rs_1349733778

2 SubmittersRCV002599655 RCV003898856

NM_182760.4(SUMF1):c.954+5G>T

SNV
Germline

Chr3:4410860

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA2580069145

rs_2469825284

1 SubmittersRCV002664291

NM_182760.4(SUMF1):c.1023T>A (p.Cys341Ter)

SNV
Germline

Chr3:4362246

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351626604

rs_2470778411

1 SubmittersRCV003002423

NM_182760.4(SUMF1):c.908C>G (p.Ser303Ter)

SNV
Germline

Chr3:4410911

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351631281

rs_2469825743

1 SubmittersRCV003012480

NM_182760.4(SUMF1):c.182A>G (p.His61Arg)

SNV
Germline

Chr3:4467064

Conflicting classifications of pathogenicity

Inborn genetic diseases
Multiple sulfatase deficiency

Criteria Provided
Conflicting Classifications

CA351794246

rs_1334585480

2 SubmittersRCV002906313 RCV003777946

NM_182760.4(SUMF1):c.247G>T (p.Glu83Ter)

SNV
Germline

Chr3:4466999

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351794127

rs_2470078244

1 SubmittersRCV003498230

NM_182760.4(SUMF1):c.1046G>C (p.Arg349Pro)

SNV
Germline

Chr3:4362223

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency
Spinocerebellar ataxia type 15/16

Criteria Provided
Multiple Submitters
No Conflicts

CA351626505

rs_137852847

2 SubmittersRCV003499920 RCV003992777

NM_182760.4(SUMF1):c.602+1G>T

SNV
Germline

Chr3:4420063

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351632819

rs_143616931

1 SubmittersRCV003497744

NM_182760.4(SUMF1):c.536G>A (p.Trp179Ter)

SNV
Germline

Chr3:4420130

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351633009

rs_757323641

1 SubmittersRCV003497635

NM_182760.4(SUMF1):c.39C>A (p.Cys13Ter)

SNV
Germline

Chr3:4467207

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351794684

rs_749445028

1 SubmittersRCV003498683

NM_182760.4(SUMF1):c.103C>T (p.Gln35Ter)

SNV
Germline

Chr3:4467143

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351794503

rs_1420137773

1 SubmittersRCV003606750

NM_182760.4(SUMF1):c.840+1G>A

SNV
Germline

Chr3:4417127

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351631968

rs_2469852897

2 SubmittersRCV003818869

NM_182760.4(SUMF1):c.784C>T (p.Gln262Ter)

SNV
Germline

Chr3:4417184

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351632085

rs_2469853388

1 SubmittersRCV003830418

NM_182760.4(SUMF1):c.692G>A (p.Trp231Ter)

SNV
Germline

Chr3:4418043

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351632513

rs_2469858111

1 SubmittersRCV003852505

NM_182760.4(SUMF1):c.868G>C (p.Gly290Arg)

SNV
Germline

Chr3:4410951

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

CA351631468

rs_2469826202

1 SubmittersRCV003990377

NM_182760.4(SUMF1):c.817G>A (p.Asp273Asn)

SNV
Germline

Chr3:4417151

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA2230449

rs_769349880

2 SubmittersRCV004579627

NM_182760.4(SUMF1):c.1042G>T (p.Ala348Ser)

SNV
Germline

Chr3:4362227

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004690553

NM_182760.4(SUMF1):c.266C>A (p.Ser89Ter)

SNV
Germline

Chr3:4466980

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004766701

NM_182760.4(SUMF1):c.689A>G (p.Glu230Gly)

SNV
Germline

Chr3:4418046

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004799116

NM_182760.4(SUMF1):c.940G>T (p.Glu314Ter)

SNV
Germline

Chr3:4410879

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005035322

NM_182760.4(SUMF1):c.914G>A (p.Trp305Ter)

SNV
Germline

Chr3:4410905

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005024613

NM_182760.4(SUMF1):c.603-1G>T

SNV
Germline

Chr3:4418133

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005035323

NM_182760.4(SUMF1):c.563G>A (p.Trp188Ter)

SNV
Germline

Chr3:4420103

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005035324

NM_182760.4(SUMF1):c.520-1G>C

SNV
Germline

Chr3:4420147

Likely pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005024615

NM_182760.4(SUMF1):c.387T>A (p.Tyr129Ter)

SNV
Germline

Chr3:4452933

Pathogenic

Multiple sulfatase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005122620

NM_182760.4(SUMF1):c.1015-2A>C

SNV
Germline

Chr3:4362256

Likely pathogenic

Multiple sulfatase deficiency

No Assertion Criteria Provided

1 SubmittersRCV005611983