Total 99 pathogenic variants reported for Mucopolysaccharidosis type 7 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val) SNV
Germline		 Chr7:65960997 Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339838 rs_121918172

3 SubmittersRCV000000941RCV004589490
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) SNV
Germline		 Chr7:65974626 Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7
Non-immune hydrops fetalis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199699 rs_121918173

4 SubmittersRCV000000942RCV000170573
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) SNV
Germline		 Chr7:65979477 Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339839 rs_121918174

4 SubmittersRCV000000943RCV004589491
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val) SNV
Germline		 Chr7:65974923 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA339840 rs_121918175

3 SubmittersRCV000000944RCV004766974
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) SNV
Germline		 Chr7:65961022 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7 Criteria Provided
Conflicting Classifications
 CA339841 rs_121918176

3 SubmittersRCV000000945
NM_000181.4(GUSB):c.442C>T (p.Pro148Ser) SNV
Germline		 Chr7:65979866 Pathogenic Mucopolysaccharidosis type 7 No Assertion Criteria Provided
 CA339842 rs_121918177

1 SubmittersRCV000000946
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter) SNV
Germline		 Chr7:65967863 Pathogenic Mucopolysaccharidosis type 7
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339844 rs_121918179

5 SubmittersRCV000000948RCV004719603
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) SNV
Germline		 Chr7:65967767 Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Multiple Submitters
No Conflicts
 CA339847 rs_377519272

4 SubmittersRCV000000949
NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu) SNV
Germline		 Chr7:65964382 Pathogenic Mucopolysaccharidosis type 7 No Assertion Criteria Provided
 CA339849 rs_121918183

1 SubmittersRCV000000950
NM_000181.4(GUSB):c.1338G>A (p.Trp446Ter) SNV
Germline		 Chr7:65974348 Pathogenic Mucopolysaccharidosis type 7 No Assertion Criteria Provided
 CA339851 rs_121918180

1 SubmittersRCV000000952
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) SNV
Germline		 Chr7:65979782 Pathogenic Mucopolysaccharidosis type 7
Mucopolysaccharidosis type 6
Condition: not provided
GUSB-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220466 rs_121918181

10 SubmittersRCV000000953RCV000586449RCV000790722RCV003914794
NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn) SNV
Germline		 Chr7:65974934 Pathogenic Mucopolysaccharidosis type 7 No Assertion Criteria Provided
 CA339853 rs_121918182

1 SubmittersRCV000000954
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) SNV
Germline		 Chr7:65960972 Likely pathogenic Mucopolysaccharidosis type 7
GUSB-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339854 rs_121918184

5 SubmittersRCV000000955RCV003398406RCV003328549
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) SNV
Germline		 Chr7:65974701 Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7
Non-immune hydrops fetalis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199717 rs_121918185

11 SubmittersRCV000000956RCV000170582RCV001528837
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn) SNV
Germline		 Chr7:65974686 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis type 7		 Criteria Provided
Conflicting Classifications
 CA220459 rs_398123234

4 SubmittersRCV000179731RCV003129771
NM_000181.4(GUSB):c.530C>T (p.Thr177Ile) SNV
Germline		 Chr7:65979778 Pathogenic Mucopolysaccharidosis type 7 No Assertion Criteria Provided
 CA345453 rs_587779400

1 SubmittersRCV000087087
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) SNV
Germline		 Chr7:65980313 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7
Non-immune hydrops fetalis		 Criteria Provided
Conflicting Classifications
 CA199721 rs_786205673

3 SubmittersRCV001283824RCV000170584
NM_000181.4(GUSB):c.959A>C (p.Tyr320Ser) SNV
Germline		 Chr7:65975025 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis type 7		 Criteria Provided
Conflicting Classifications
 CA10607051 rs_886044680

2 SubmittersRCV000359374RCV002518164
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) SNV
Germline		 Chr7:65974996 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7 Criteria Provided
Conflicting Classifications
 CA4276429 rs_561880652

2 SubmittersRCV000360113
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) SNV
Germline		 Chr7:65974530 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7 Criteria Provided
Conflicting Classifications
 CA4276347 rs_150686327

2 SubmittersRCV000264749
NM_000181.4(GUSB):c.45G>A (p.Leu15=) SNV
Germline		 Chr7:65982139 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7 Criteria Provided
Conflicting Classifications
 CA10626297 rs_886062404

2 SubmittersRCV000385298
NM_000181.4(GUSB):c.211-8C>G SNV
Germline		 Chr7:65980417 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7 Criteria Provided
Conflicting Classifications
 CA4276709 rs_2293340

2 SubmittersRCV000382002
NM_000181.4(GUSB):c.210+11G>C SNV
Germline		 Chr7:65981963 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7 Criteria Provided
Conflicting Classifications
 CA10629335 rs_886062403

2 SubmittersRCV000271073
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) SNV
Germline		 Chr7:65982171 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7 Criteria Provided
Conflicting Classifications
 CA4276760 rs_190496263

2 SubmittersRCV000293404
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) SNV
Germline		 Chr7:65979854 Conflicting classifications of pathogenicity; other Mucopolysaccharidosis type 7
Intellectual disability
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4276629 rs_149606212

8 SubmittersRCV000550006RCV001252504RCV001726216
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) SNV
Germline		 Chr7:65974349 Pathogenic Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA367643462 rs_1434169374

2 SubmittersRCV000590006RCV001206155
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter) SNV
Germline		 Chr7:65980292 Pathogenic Condition: not provided
Mucopolysaccharidosis type 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA159910371 rs_1053785648

2 SubmittersRCV000594255RCV001783100
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu) SNV
Germline		 Chr7:65982014 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis type 7		 Criteria Provided
Conflicting Classifications
 rs_769252159

3 SubmittersRCV000675838RCV001309357
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) SNV
Germline		 Chr7:65970346 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7
GUSB-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1302470051

3 SubmittersRCV000688513RCV003424279
NM_000181.4(GUSB):c.104C>A (p.Ser35Ter) SNV
Germline		 Chr7:65982080 Likely pathogenic Mucopolysaccharidosis type 7 No Assertion Criteria Provided
 rs_1238361161

1 SubmittersRCV000721977
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) SNV
Germline		 Chr7:65970329 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7 Criteria Provided
Conflicting Classifications
 rs_774393243

5 SubmittersRCV000735425
NM_000181.4(GUSB):c.893C>T (p.Ala298Val) SNV
Germline		 Chr7:65976034 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter
 rs_1451709678

1 SubmittersRCV000758004
NM_000181.4(GUSB):c.107G>T (p.Arg36Leu) SNV
Germline		 Chr7:65982077 Likely pathogenic Mucopolysaccharidosis type 7 No Assertion Criteria Provided
 rs_1264172545

1 SubmittersRCV000855534
NM_000181.4(GUSB):c.1066-5C>T SNV
Germline		 Chr7:65974709 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_376501876

2 SubmittersRCV000968435RCV002548328
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=) SNV
Germline		 Chr7:65970297 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7 Criteria Provided
Conflicting Classifications
 rs_200831987

2 SubmittersRCV001164419
NM_000181.4(GUSB):c.1050G>A (p.Lys350=) SNV
Germline		 Chr7:65974934 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7 Criteria Provided
Conflicting Classifications
 rs_121918182

2 SubmittersRCV001159486
NM_000181.4(GUSB):c.324G>A (p.Pro108=) SNV
Germline		 Chr7:65980296 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7 Criteria Provided
Conflicting Classifications
 rs_546131174

2 SubmittersRCV001160853
NM_000181.4(GUSB):c.1245-4G>A SNV
Germline		 Chr7:65974445 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7 Criteria Provided
Conflicting Classifications
 rs_548368848

2 SubmittersRCV001164421
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter) SNV
Germline		 Chr7:65960973 Pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter
 rs_1236992554

1 SubmittersRCV001205414
NM_000181.4(GUSB):c.1244+1G>A SNV
Germline		 Chr7:65974525 Pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Multiple Submitters
No Conflicts
 rs_765969571

2 SubmittersRCV001251384
NM_000181.4(GUSB):c.1651C>T (p.Gln551Ter) SNV
Germline		 Chr7:65967733 Pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter
 rs_1344332366

2 SubmittersRCV001644997
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser) SNV
Germline		 Chr7:65982162 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_376505707

3 SubmittersRCV001374264RCV002550191
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter) SNV
Germline		 Chr7:65982021 Pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter
 rs_1210475838

1 SubmittersRCV001388397
NM_000181.4(GUSB):c.647G>A (p.Arg216Gln) SNV
Germline		 Chr7:65979476 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter
 rs_1791836120

2 SubmittersRCV001548754
NM_000181.4(GUSB):c.724+1G>T SNV
Germline		 Chr7:65979398 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2116026958

2 SubmittersRCV003226648
NM_000181.4(GUSB):c.1832G>A (p.Arg611Gln) SNV
Germline		 Chr7:65961021 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter
 rs_1583879945

1 SubmittersRCV001824225
NM_000181.4(GUSB):c.1145G>A (p.Arg382His) SNV
Germline		 Chr7:65974625 Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Multiple Submitters
No Conflicts
 rs_764018631

3 SubmittersRCV001825115
NM_000181.4(GUSB):c.1469A>G (p.Asp490Gly) SNV
Germline		 Chr7:65970289 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter
 rs_2115900875

1 SubmittersRCV002254378
NM_000181.4(GUSB):c.396+1G>A SNV
Germline		 Chr7:65980223 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV002637839
NM_000181.4(GUSB):c.406G>A (p.Gly136Arg) SNV
Germline		 Chr7:65979902 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV002510326
NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter) SNV
Germline		 Chr7:65976189 Pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV002908998
NM_000181.4(GUSB):c.604C>T (p.Gln202Ter) SNV
Germline		 Chr7:65979519 Pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003039047
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys) SNV
Germline		 Chr7:65974578 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003135501
NM_000181.4(GUSB):c.581+1G>A SNV
Germline		 Chr7:65979726 Pathogenic/Likely pathogenic GUSB-related disorder
Mucopolysaccharidosis type 7		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003422481RCV003495337
NM_000181.4(GUSB):c.2T>G (p.Met1Arg) SNV
Germline		 Chr7:65982182 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003448854
NM_000181.4(GUSB):c.643C>T (p.Gln215Ter) SNV
Germline		 Chr7:65979480 Pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003496129
NM_000181.4(GUSB):c.1477-2A>G SNV
Germline		 Chr7:65967909 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003496926
NM_000181.4(GUSB):c.91C>T (p.Gln31Ter) SNV
Germline		 Chr7:65982093 Pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003494987
NM_000181.4(GUSB):c.1477-1G>C SNV
Germline		 Chr7:65967908 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003600552
NM_000181.4(GUSB):c.916C>T (p.Gln306Ter) SNV
Germline		 Chr7:65975068 Pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003601350
NM_000181.4(GUSB):c.739C>T (p.Gln247Ter) SNV
Germline		 Chr7:65976188 Pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003601413
NM_000181.4(GUSB):c.325G>T (p.Glu109Ter) SNV
Germline		 Chr7:65980295 Pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003602471
NM_000181.4(GUSB):c.1865T>A (p.Leu622Ter) SNV
Germline		 Chr7:65960988 Pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003602362
NM_000181.4(GUSB):c.1654-1G>A SNV
Germline		 Chr7:65964459 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003600044
NM_000181.4(GUSB):c.499C>T (p.Arg167Ter) SNV
Germline		 Chr7:65979809 Pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003601112
NM_000181.4(GUSB):c.1070G>T (p.Arg357Leu) SNV
Germline		 Chr7:65974700 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003986020
NM_000181.4(GUSB):c.189G>C (p.Trp63Cys) SNV
Germline		 Chr7:65981995 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003989964
NM_000181.4(GUSB):c.304G>A (p.Glu102Lys) SNV
Germline		 Chr7:65980316 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV004764541
NM_000181.4(GUSB):c.448G>A (p.Glu150Lys) SNV
Germline		 Chr7:65979860 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV004782148
NM_000181.4(GUSB):c.1270C>T (p.His424Tyr) SNV
Germline		 Chr7:65974416 Likely pathogenic Mucopolysaccharidosis type 7 Criteria Provided
Single Submitter

1 SubmittersRCV004800207