Total 126 pathogenic variants reported for Multiple sulfatase deficiency 
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 SubmittersRCV000002785RCV001582462
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln) SNV
Germline		 Chr3:4362223 Likely pathogenic Multiple sulfatase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115672 rs_137852847

4 SubmittersRCV000002786RCV002243616
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

16 SubmittersRCV000002788RCV000082716
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) SNV
Germline		 Chr3:4449322 Pathogenic/Likely pathogenic Multiple sulfatase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115675 rs_137852850

12 SubmittersRCV000002791RCV000082715
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 Multiple sulfatase deficiency Criteria Provided
Single Submitter
 CA115681 rs_137852855

2 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 SubmittersRCV000490557RCV003327381
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 SubmittersRCV000340011RCV002282122
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 SubmittersRCV000286229RCV001573460RCV003969995
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 SubmittersRCV000356243RCV000906209
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 Criteria Provided
Single Submitter
 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
Spinocerebellar ataxia type 15/16		 Criteria Provided
Conflicting Classifications
 CA16617969 rs_1064793391

7 SubmittersRCV000481019RCV000624193RCV000723283RCV004527375
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 SubmittersRCV000578288RCV001169981
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) SNV
Germline		 Chr3:4467188 Conflicting classifications of pathogenicity Multiple sulfatase deficiency
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_200142963

4 SubmittersRCV000668038RCV003325511RCV003226355
NM_182760.4(SUMF1):c.244G>T (p.Gly82Ter) SNV
Unknown		 Chr3:4467002 Likely pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 rs_986500427

1 SubmittersRCV000673785
NM_182760.4(SUMF1):c.659G>A (p.Trp220Ter) SNV
Germline		 Chr3:4418076 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 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
 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
 rs_201984297

5 SubmittersRCV000919538RCV001593130
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) SNV
Germline		 Chr3:4467230 Conflicting classifications of pathogenicity Multiple sulfatase deficiency Criteria Provided
Conflicting Classifications
 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
 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
 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
 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
 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
 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
 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
 rs_1703021709

1 SubmittersRCV001170031
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter) SNV
Germline		 Chr3:4467055 Pathogenic/Likely pathogenic Multiple sulfatase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_1421066733

3 SubmittersRCV001192683
NM_182760.4(SUMF1):c.726-1G>A SNV
Germline		 Chr3:4417243 Likely pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 rs_1215549413

1 SubmittersRCV001236822
NM_182760.4(SUMF1):c.954+1G>T SNV
Germline		 Chr3:4410864 Likely pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 rs_1701516867

1 SubmittersRCV001243482
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
 rs_1359106679

2 SubmittersRCV001268251RCV001880164
NM_182760.4(SUMF1):c.818A>G (p.Asp273Gly) SNV
Germline		 Chr3:4417150 Likely pathogenic Multiple sulfatase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_772711848

2 SubmittersRCV001330572
NM_182760.4(SUMF1):c.903G>A (p.Trp301Ter) SNV
Germline		 Chr3:4410916 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 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
 rs_1215549413

1 SubmittersRCV001378446
NM_182760.4(SUMF1):c.603-1G>C SNV
Germline		 Chr3:4418133 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 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
 rs_1237016251

3 SubmittersRCV001378037
NM_182760.4(SUMF1):c.511C>T (p.Gln171Ter) SNV
Germline		 Chr3:4449274 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 rs_1702887095

1 SubmittersRCV001389988
NM_182760.4(SUMF1):c.451A>T (p.Lys151Ter) SNV
Germline		 Chr3:4449334 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 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
 rs_1350782911

1 SubmittersRCV001385574
NM_182760.4(SUMF1):c.706C>T (p.Arg236Ter) SNV
Germline		 Chr3:4418029 Pathogenic Multiple sulfatase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_748169616

2 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
 rs_1293658639

2 SubmittersRCV001785033
NM_182760.4(SUMF1):c.860A>T (p.Asn287Ile) SNV
Germline		 Chr3:4410959 Likely pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 rs_766298096

1 SubmittersRCV001797855
NM_182760.4(SUMF1):c.150C>A (p.Cys50Ter) SNV
Germline		 Chr3:4467096 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 rs_761237429

1 SubmittersRCV001941755
NM_182760.4(SUMF1):c.896G>A (p.Trp299Ter) SNV
Germline		 Chr3:4410923 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 rs_1559281733

1 SubmittersRCV001900448
NM_182760.4(SUMF1):c.954+1G>A SNV
Germline		 Chr3:4410864 Likely pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 rs_1701516867

1 SubmittersRCV002045786
NM_182760.4(SUMF1):c.451A>G (p.Lys151Glu) SNV
Germline		 Chr3:4449334 Likely pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 rs_2125124343

1 SubmittersRCV001973859
NM_182760.4(SUMF1):c.955-1G>T SNV
Germline		 Chr3:4376390 Likely pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 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
 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
 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		 Criteria Provided
Conflicting Classifications
 rs_139267495

2 SubmittersRCV001926683RCV003159221
NM_182760.4(SUMF1):c.156C>A (p.Cys52Ter) SNV
Germline		 Chr3:4467090 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 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
 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
 rs_754069091

1 SubmittersRCV001972381
NM_182760.4(SUMF1):c.826C>T (p.Gln276Ter) SNV
Germline		 Chr3:4417142 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 rs_1478570923

1 SubmittersRCV001948565
NM_182760.4(SUMF1):c.632G>A (p.Trp211Ter) SNV
Germline		 Chr3:4418103 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 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
 rs_369648085

1 SubmittersRCV001951461
NM_182760.4(SUMF1):c.603-2A>T SNV
Germline		 Chr3:4418134 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter
 rs_2125035931

1 SubmittersRCV001881074
NM_182760.4(SUMF1):c.670C>T (p.Arg224Trp) SNV
Germline		 Chr3:4418065 Likely pathogenic Multiple sulfatase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_759888604

2 SubmittersRCV002027308RCV002512170
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser) SNV
Germline		 Chr3:4420130 Conflicting classifications of pathogenicity Multiple sulfatase deficiency Criteria Provided
Conflicting Classifications

2 SubmittersRCV002283890
NM_182760.4(SUMF1):c.271-1G>C SNV
Germline		 Chr3:4453050 Likely pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003052733
NM_182760.4(SUMF1):c.955-2A>G SNV
Germline		 Chr3:4376391 Likely pathogenic Multiple sulfatase deficiency
SUMF1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002599655RCV003898856
NM_182760.4(SUMF1):c.954+5G>T SNV
Germline		 Chr3:4410860 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV002664291
NM_182760.4(SUMF1):c.1023T>A (p.Cys341Ter) SNV
Germline		 Chr3:4362246 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003002423
NM_182760.4(SUMF1):c.908C>G (p.Ser303Ter) SNV
Germline		 Chr3:4410911 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter

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

2 SubmittersRCV002906313RCV003777946
NM_182760.4(SUMF1):c.247G>T (p.Glu83Ter) SNV
Germline		 Chr3:4466999 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter

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

2 SubmittersRCV003499920RCV003992777
NM_182760.4(SUMF1):c.602+1G>T SNV
Germline		 Chr3:4420063 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003497744
NM_182760.4(SUMF1):c.536G>A (p.Trp179Ter) SNV
Germline		 Chr3:4420130 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003497635
NM_182760.4(SUMF1):c.39C>A (p.Cys13Ter) SNV
Germline		 Chr3:4467207 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003498683
NM_182760.4(SUMF1):c.103C>T (p.Gln35Ter) SNV
Germline		 Chr3:4467143 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003606750
NM_182760.4(SUMF1):c.840+1G>A SNV
Germline		 Chr3:4417127 Likely pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003818869
NM_182760.4(SUMF1):c.784C>T (p.Gln262Ter) SNV
Germline		 Chr3:4417184 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003830418
NM_182760.4(SUMF1):c.692G>A (p.Trp231Ter) SNV
Germline		 Chr3:4418043 Pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003852505
NM_182760.4(SUMF1):c.868G>C (p.Gly290Arg) SNV
Germline		 Chr3:4410951 Likely pathogenic Multiple sulfatase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003990377
NM_182760.4(SUMF1):c.817G>A (p.Asp273Asn) SNV
Germline		 Chr3:4417151 Likely pathogenic Hereditary leiomyomatosis and renal cell cancer
Mucopolysaccharidosis, MPS-III-A
Multiple sulfatase deficiency		 Criteria Provided
Single Submitter

1 SubmittersRCV004526394RCV004544212RCV004579627