Total 272 pathogenic variants reported for Mucopolysaccharidosis, MPS-III-A 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_024312.5(GNPTAB):c.3335+6T>G SNV
Germline		 Chr12:101757566 Pathogenic Pseudo-Hurler polydystrophy
Mucopolysaccharidosis, MPS-III-A
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252413 rs_34788341

8 SubmittersRCV000002902RCV000031982RCV000032336RCV000665095RCV001781171
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) SNV
Germline		 Chr12:101830666 Pathogenic Pseudo-Hurler polydystrophy
Mucopolysaccharidosis, MPS-III-A
Mucolipidosis type II
Pseudo-Hurler polydystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252414 rs_34159654

5 SubmittersRCV000002903RCV000031965RCV000669013
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) SNV
Germline		 Chr17:80217061 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided
Abnormal circulating carbohydrate concentration
Mucopolysaccharidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117258 rs_104894636

23 SubmittersRCV000005415RCV000078354RCV000626628RCV001030813
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) SNV
Germline		 Chr17:80210663 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117259 rs_104894641

11 SubmittersRCV000005416RCV000790770RCV002512806
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) SNV
Germline		 Chr17:80214738 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
not specified		 Criteria Provided
Conflicting Classifications
 CA117260 rs_104894642

6 SubmittersRCV000005417RCV004766982
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) SNV
Germline		 Chr17:80214672 Pathogenic Mucopolysaccharidosis, MPS-III-A
SGSH-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117262 rs_104894638

10 SubmittersRCV000005420RCV004755712
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) SNV
Germline		 Chr17:80210622 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117263 rs_104894639

13 SubmittersRCV000005421RCV000413635RCV000624626
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) SNV
Germline		 Chr17:80210856 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided
SGSH-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117264 rs_104894640

11 SubmittersRCV000005424RCV000078349RCV003894791
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) SNV
Germline		 Chr17:80214218 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA117265 rs_104894643

7 SubmittersRCV000005425
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) SNV
Germline		 ChrX:149483072 Pathogenic Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
See cases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340985 rs_199422227

10 SubmittersRCV000011232RCV001831559RCV004584323RCV005434600
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) SNV
Germline		 Chr17:80212128 Pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided
Sanfilippo syndrome
7 conditions
Mucopolysaccharidosis
Neurodegeneration
Inborn genetic diseases
Cone-rod dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129225 rs_138504221

28 SubmittersRCV000023412RCV000078357RCV000326423RCV001003995RCV001030818RCV001837443RCV004965262RCV005624704
NM_024312.5(GNPTAB):c.3435-1G>A SNV
Unknown		 Chr12:101753540 Pathogenic Mucopolysaccharidosis, MPS-III-A No Assertion Criteria Provided
 CA343079 rs_281865037

1 SubmittersRCV000031984
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) SNV
Germline		 Chr12:101786014 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343083 rs_34946266

5 SubmittersRCV000031988RCV000632919RCV001729354
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) SNV
Germline		 Chr12:101771097 Pathogenic Mucopolysaccharidosis, MPS-III-A
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type II		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343085 rs_35878526

4 SubmittersRCV000031991RCV001214189RCV001826527
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) SNV
Germline		 Chr17:80217184 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA220487 rs_398123246

6 SubmittersRCV000078358RCV000671585
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) SNV
Germline		 ChrX:149504293 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
IDS-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA241305 rs_144081417

7 SubmittersRCV001081199RCV001835703RCV003965264RCV000675884
NM_000202.8(IDS):c.396G>A (p.Ser132=) SNV
Germline		 ChrX:149503334 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA243124 rs_147108245

5 SubmittersRCV000177013RCV001085852RCV001826898
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) SNV
Germline		 Chr17:80213815 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA246547 rs_104894635

3 SubmittersRCV000179273RCV001376860
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) SNV
Germline		 ChrX:149490395 Conflicting classifications of pathogenicity not specified
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA203395 rs_145807417

7 SubmittersRCV000179733RCV000990962RCV001833092RCV002312728RCV000675877
NM_000202.8(IDS):c.1227G>A (p.Thr409=) SNV
Germline		 ChrX:149483172 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-III-A
Mucopolysaccharidosis, MPS-II		 Criteria Provided
Conflicting Classifications
 CA247947 rs_201905166

4 SubmittersRCV000180474RCV001826923RCV001078787
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) SNV
Germline		 Chr17:80213874 Pathogenic/Likely pathogenic Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8817846 rs_34520362

5 SubmittersRCV000224603RCV000675098
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) SNV
Germline		 Chr17:80210678 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-III-A
SGSH-related disorder		 Criteria Provided
Conflicting Classifications
 CA8817627 rs_144862290

5 SubmittersRCV000224037RCV001085633RCV003947736
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) SNV
Germline		 Chr17:80210959 Conflicting classifications of pathogenicity not specified
Mucopolysaccharidosis, MPS-III-A
SGSH-related disorder		 Criteria Provided
Conflicting Classifications
 CA8817698 rs_145596938

6 SubmittersRCV000253023RCV000967719RCV003891840
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) SNV
Germline		 Chr17:80212143 Pathogenic/Likely pathogenic Condition: not provided
Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8817759 rs_143947056

10 SubmittersRCV000255725RCV000409289RCV001266815
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) SNV
Germline		 Chr17:80210822 Pathogenic/Likely pathogenic Condition: not provided
Mucopolysaccharidosis
Mucopolysaccharidosis, MPS-III-A
Intellectual disability		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8817662 rs_144143780

14 SubmittersRCV000309724RCV001030814RCV000666337RCV005621929
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) SNV
Germline		 Chr17:80214206 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603615 rs_886041370

6 SubmittersRCV000674194RCV000345601
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) SNV
Germline		 ChrX:149503429 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA10537707 rs_782738754

6 SubmittersRCV000353621RCV001088215RCV001833368
NM_000199.5(SGSH):c.816C>T (p.Ser272=) SNV
Germline		 Chr17:80212204 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA8817770 rs_200485062

3 SubmittersRCV000372460RCV001413181
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) SNV
Germline		 Chr17:80210827 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8817666 rs_771257931

3 SubmittersRCV000897042
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys) SNV
Germline		 Chr17:80214198 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8817928 rs_200644359

4 SubmittersRCV000334808RCV003324744
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) SNV
Germline		 Chr17:80210665 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA8817625 rs_141153056

5 SubmittersRCV000762219RCV001082720
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) SNV
Germline		 Chr17:80210752 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8817647 rs_115750405

3 SubmittersRCV000964018
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) SNV
Germline		 Chr17:80210898 Pathogenic/Likely pathogenic Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8817682 rs_766938111

8 SubmittersRCV000414288RCV000489539
NM_000199.5(SGSH):c.411G>A (p.Ala137=) SNV
Germline		 Chr17:80214710 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
SGSH-related disorder
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8818023 rs_142557761

8 SubmittersRCV000959194RCV003910247RCV001699369RCV001726116
NM_000199.5(SGSH):c.88+8C>T SNV
Germline		 Chr17:80220218 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA10647095 rs_75720127

3 SubmittersRCV000270007
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln) SNV
Germline		 Chr17:80210633 Conflicting classifications of pathogenicity Sanfilippo syndrome
Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8817609 rs_377605690

4 SubmittersRCV000399603RCV001800655RCV002523033
NM_000199.5(SGSH):c.942C>T (p.Ser314=) SNV
Germline		 Chr17:80212078 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8817743 rs_759810426

3 SubmittersRCV000287844
NM_000199.5(SGSH):c.534C>T (p.His178=) SNV
Germline		 Chr17:80214301 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
SGSH-related disorder		 Criteria Provided
Conflicting Classifications
 CA8817955 rs_139484283

4 SubmittersRCV000958745RCV004755880
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) SNV
Germline		 Chr17:80213852 Pathogenic Mucopolysaccharidosis, MPS-III-A
Sanfilippo syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8817835 rs_374621913

10 SubmittersRCV000409562RCV000588098RCV003128796RCV004022138
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) SNV
Germline		 Chr17:80217046 Pathogenic/Likely pathogenic Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8818138 rs_779703983

4 SubmittersRCV000413476RCV001035206
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) SNV
Germline		 Chr17:80214264 Pathogenic/Likely pathogenic Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8817942 rs_753666460

8 SubmittersRCV000413143RCV000672002
NM_000199.5(SGSH):c.356-2A>G SNV
Germline		 Chr17:80214767 Pathogenic/Likely pathogenic Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043141 rs_1057517927

3 SubmittersRCV000412969RCV002524639
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) SNV
Germline		 Chr17:80213876 Pathogenic/Likely pathogenic Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16607531 rs_1057521801

4 SubmittersRCV000426187RCV000489872
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) SNV
Germline		 Chr17:80217151 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA16607870 rs_1057521146

5 SubmittersRCV000439024RCV000984216
NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn) SNV
Germline		 Chr17:80210532 Likely pathogenic Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620651 rs_1064795109

3 SubmittersRCV000485142RCV003155207
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) SNV
Germline		 Chr17:80210766 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA16620652 rs_1064794815

4 SubmittersRCV000478188RCV001123038
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) SNV
Germline		 ChrX:149490386 Conflicting classifications of pathogenicity not specified
Condition: not provided
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA16621219 rs_903259179

8 SubmittersRCV001293485RCV000481557RCV001785635RCV001834576
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) SNV
Germline		 ChrX:149496471 Conflicting classifications of pathogenicity Condition: not provided
not specified
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10537604 rs_146458524

11 SubmittersRCV000487550RCV001530082RCV001081450RCV001829395RCV002318593
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) SNV
Germline		 Chr17:80217110 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-III-A
not specified		 Criteria Provided
Conflicting Classifications
 CA401364359 rs_1131691434

5 SubmittersRCV000494203RCV000672621RCV003235251
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) SNV
Germline		 ChrX:149500989 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10537654 rs_145231211

6 SubmittersRCV000675880RCV001081804RCV001834749RCV002316480
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) SNV
Germline		 Chr17:80220312 Pathogenic Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA401365704 rs_1488660868

6 SubmittersRCV000578657RCV000664735
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) SNV
Germline		 Chr17:80214757 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Abnormality of metabolism/homeostasis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8818041 rs_761607612

12 SubmittersRCV000612947RCV001814197RCV001539080
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) SNV
Germline		 Chr17:80212208 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401359955 rs_746776254

5 SubmittersRCV000625930
NM_000199.5(SGSH):c.578T>C (p.Phe193Ser) SNV
Germline		 Chr17:80214257 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401362008 rs_1555621662

1 SubmittersRCV000626218
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) SNV
Germline		 Chr17:80214291 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8817949 rs_529855742

11 SubmittersRCV000626217RCV002285381
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) SNV
Germline		 Chr17:80211000 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA8817704 rs_758756630

4 SubmittersRCV000657915RCV000667635
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter) SNV
Unknown		 Chr17:80210823 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401359063 rs_1424242431

3 SubmittersRCV000664660
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter) SNV
Germline		 Chr17:80210653 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401358708 rs_1555620141

2 SubmittersRCV000664671
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) SNV
Germline		 Chr17:80214705 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
Intellectual disability		 Criteria Provided
Conflicting Classifications
 CA8818020 rs_775112689

9 SubmittersRCV000666794RCV001293360
NM_000199.5(SGSH):c.356-1G>A SNV
Germline		 Chr17:80214766 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401363396 rs_1555621984

3 SubmittersRCV000669340
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter) SNV
Germline		 Chr17:80210736 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401358873 rs_1323958195

3 SubmittersRCV000671608
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter) SNV
Germline		 Chr17:80214253 Pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA401361995 rs_1555621659

6 SubmittersRCV000673158RCV001571102
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro) SNV
Germline		 Chr17:80214684 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8818015 rs_749358773

3 SubmittersRCV000667816
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) SNV
Germline		 Chr17:80210664 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8817624 rs_777267343

7 SubmittersRCV000665964RCV002293469
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) SNV
Germline		 Chr17:80210794 Pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8817654 rs_764057581

6 SubmittersRCV000665218RCV002275097
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) SNV
Germline		 Chr17:80210921 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
not specified		 Criteria Provided
Conflicting Classifications
 CA8817688 rs_780239925

7 SubmittersRCV000672190RCV004586867
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) SNV
Germline		 Chr17:80212109 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
not specified		 Criteria Provided
Conflicting Classifications
 CA8817752 rs_745884647

4 SubmittersRCV000671474RCV002282312
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) SNV
Germline		 Chr17:80212203 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA294892403 rs_1046551417

7 SubmittersRCV000668913
NM_000199.5(SGSH):c.726C>T (p.Thr242=) SNV
Germline		 Chr17:80213823 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA401361190 rs_1347877363

5 SubmittersRCV000670024RCV003148823RCV004768534
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) SNV
Germline		 Chr17:80213846 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
SGSH-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8817831 rs_753472891

9 SubmittersRCV000668365RCV003420182RCV004760689
NM_000199.5(SGSH):c.664-1G>T SNV
Germline		 Chr17:80213886 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401361609 rs_1555621425

2 SubmittersRCV000670575
NM_000199.5(SGSH):c.221G>A (p.Arg74His) SNV
Germline		 Chr17:80217060 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided
SGSH-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8818142 rs_778336949

9 SubmittersRCV000665263RCV004719928RCV004756002
NM_000199.5(SGSH):c.54C>A (p.Cys18Ter) SNV
Unknown		 Chr17:80220260 Likely pathogenic Mucopolysaccharidosis, MPS-III-A No Assertion Criteria Provided
 CA401365532 rs_1555624080

1 SubmittersRCV000674099
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) SNV
Germline		 Chr17:80210795 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401359010 rs_1555620214

8 SubmittersRCV000664949
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) SNV
Germline		 Chr17:80215120 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA8818097 rs_774010006

6 SubmittersRCV000665315
NM_000199.5(SGSH):c.1A>G (p.Met1Val) SNV
Germline		 Chr17:80220313 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA401365708 rs_1250300189

7 SubmittersRCV000667488RCV001531871
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) SNV
Germline		 Chr17:80210644 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-III-A
SGSH-related disorder		 Criteria Provided
Conflicting Classifications
 CA8817616 rs_146522699

5 SubmittersRCV000676146RCV001084505RCV003953230
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) SNV
Germline		 Chr17:80210832 Pathogenic/Likely pathogenic Condition: not provided
Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8817669 rs_772311757

11 SubmittersRCV000676150RCV001246288RCV001266348
NM_000202.8(IDS):c.1144G>C (p.Asp382His) SNV
Germline		 ChrX:149486961 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
Inborn genetic diseases
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA10537492 rs_370125505

5 SubmittersRCV000688992RCV002458216RCV001830497
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) SNV
Germline		 ChrX:149496444 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
Condition: not provided
Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10537598 rs_141720810

6 SubmittersRCV000872965RCV001572835RCV001825440RCV002316687
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter) SNV
Germline		 Chr17:80210586 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401358574 rs_1567914459

3 SubmittersRCV000758005
NM_000199.5(SGSH):c.89-2A>G SNV
Germline		 Chr17:80217194 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401364807 rs_1369704445

3 SubmittersRCV000785043
NM_000199.5(SGSH):c.542A>G (p.His181Arg) SNV
Germline		 Chr17:80214293 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8817950 rs_776228545

3 SubmittersRCV000790555
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) SNV
Germline		 Chr17:80214673 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA401362762 rs_1479831530

6 SubmittersRCV000790554RCV005241402
NM_000199.5(SGSH):c.118T>A (p.Tyr40Asn) SNV
Germline		 Chr17:80217163 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401364635 rs_1598758001

1 SubmittersRCV000790553
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys) SNV
Germline		 Chr17:80210645 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA294890479 rs_900198526

4 SubmittersRCV000805316RCV004777878
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) SNV
Germline		 Chr17:80214287 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
Intellectual disability		 Criteria Provided
Conflicting Classifications
 CA401362171 rs_1329133410

4 SubmittersRCV000795469RCV005622030
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter) SNV
Germline		 Chr17:80214631 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401362505 rs_1598749661

2 SubmittersRCV000810296
NM_000199.5(SGSH):c.1A>C (p.Met1Leu) SNV
Germline		 Chr17:80220313 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401365710 rs_1250300189

2 SubmittersRCV000856818
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) SNV
Germline		 ChrX:149490439 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA10537553 rs_782445506

3 SubmittersRCV000946036RCV001827038
NM_000199.5(SGSH):c.780C>T (p.Ala260=) SNV
Germline		 Chr17:80212240 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8817779 rs_530964770

5 SubmittersRCV000891888
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) SNV
Germline		 Chr17:80214177 Conflicting classifications of pathogenicity SGSH-related disorder
Condition: not provided
Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8817920 rs_150508741

6 SubmittersRCV003920523RCV002298798RCV000880902RCV004962905
NM_000199.5(SGSH):c.390C>T (p.Thr130=) SNV
Germline		 Chr17:80214731 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8818032 rs_111761143

4 SubmittersRCV000893515
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) SNV
Germline		 Chr17:80210515 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8817581 rs_113679696

4 SubmittersRCV000902751
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) SNV
Germline		 Chr17:80210659 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
SGSH-related disorder		 Criteria Provided
Conflicting Classifications
 CA8817620 rs_376787615

5 SubmittersRCV000904702RCV004756096
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) SNV
Germline		 Chr17:80212268 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8817784 rs_144461610

2 SubmittersRCV000905656
NM_000202.8(IDS):c.684A>G (p.Pro228=) SNV
Germline		 ChrX:149498131 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10537627 rs_782561677

4 SubmittersRCV000899428RCV001825812RCV002363345
NM_000199.5(SGSH):c.1210G>A (p.Val404Ile) SNV
Germline		 Chr17:80210751 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8817646 rs_191465934

2 SubmittersRCV000930274RCV004720022
NM_000199.5(SGSH):c.798A>G (p.Thr266=) SNV
Germline		 Chr17:80212222 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8817775 rs_199562202

4 SubmittersRCV000942779
NM_000199.5(SGSH):c.432C>T (p.Ser144=) SNV
Germline		 Chr17:80214689 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8818017 rs_200194908

4 SubmittersRCV000941640
NM_000199.5(SGSH):c.1455C>T (p.Gly485=) SNV
Germline		 Chr17:80210506 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8817576 rs_757563981

3 SubmittersRCV001070614
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met) SNV
Germline		 Chr17:80210699 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8817634 rs_767649680

3 SubmittersRCV001123037
NM_000199.5(SGSH):c.981G>A (p.Ser327=) SNV
Germline		 Chr17:80210980 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8817701 rs_143223388

3 SubmittersRCV001124106
NM_000199.5(SGSH):c.681C>A (p.Pro227=) SNV
Germline		 Chr17:80213868 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA401361504 rs_2041774244

3 SubmittersRCV001126772
NM_000199.5(SGSH):c.417G>A (p.Thr139=) SNV
Germline		 Chr17:80214704 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8818019 rs_142729872

3 SubmittersRCV001127184
NM_000199.5(SGSH):c.506+13G>T SNV
Germline		 Chr17:80214602 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8817995 rs_201177560

3 SubmittersRCV001127183
NM_000199.5(SGSH):c.250-15C>T SNV
Germline		 Chr17:80215153 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8818102 rs_369082713

3 SubmittersRCV001123116
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr) SNV
Germline		 Chr17:80217037 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA401364088 rs_1385318543

5 SubmittersRCV001205081RCV003490119RCV004774295
NM_000199.5(SGSH):c.745+1G>C SNV
Germline		 Chr17:80213803 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401361062 rs_748525651

3 SubmittersRCV001205333
NM_000199.5(SGSH):c.410C>T (p.Ala137Val) SNV
Germline		 Chr17:80214711 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8818024 rs_367805575

3 SubmittersRCV001244486RCV003329386
NM_000202.8(IDS):c.1478G>A (p.Arg493His) SNV
Germline		 ChrX:149482921 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10537440 rs_782347729

4 SubmittersRCV001243617RCV001829038RCV002393637
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter) SNV
Germline		 Chr17:80215121 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA401363942 rs_1479456289

5 SubmittersRCV001262986RCV004697095
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg) SNV
Germline		 Chr17:80212093 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA401359648 rs_1385473515

2 SubmittersRCV001341559
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg) SNV
Germline		 Chr17:80215120 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401363938 rs_774010006

2 SubmittersRCV001377322
NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter) SNV
Germline		 Chr17:80210549 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401358492 rs_2144689256

2 SubmittersRCV001389672
NM_000199.5(SGSH):c.630G>A (p.Trp210Ter) SNV
Germline		 Chr17:80214205 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA8817932 rs_373031930

1 SubmittersRCV001385410
NM_000199.5(SGSH):c.545G>A (p.Arg182His) SNV
Germline		 Chr17:80214290 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA8817948 rs_372911015

3 SubmittersRCV001384263
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter) SNV
Germline		 Chr17:80214655 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401362665 rs_2041818115

3 SubmittersRCV001389566
NM_000202.8(IDS):c.1100C>T (p.Thr367Met) SNV
Germline		 ChrX:149487005 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10537502 rs_782588855

3 SubmittersRCV001410809RCV001831453RCV002456656
NM_000199.5(SGSH):c.1253G>A (p.Gly418Asp) SNV
Germline		 Chr17:80210708 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8817636 rs_760618916

2 SubmittersRCV001451673RCV003284334
NM_000202.8(IDS):c.957C>A (p.Asp319Glu) SNV
Germline		 ChrX:149490363 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA10537542 rs_782488487

3 SubmittersRCV001520733RCV001836438
NM_000199.5(SGSH):c.716A>G (p.Gln239Arg) SNV
Germline		 Chr17:80213833 Pathogenic Mucopolysaccharidosis, MPS-III-A No Assertion Criteria Provided
 CA401361266 rs_1352066127

1 SubmittersRCV001542696
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) SNV
Germline		 Chr17:80210831 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided
SGSH-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8817668 rs_746037899

9 SubmittersRCV001780433RCV001723456RCV004756280
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys) SNV
Germline		 Chr17:80213816 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401361136 rs_1455698449

4 SubmittersRCV001783741
NM_000199.5(SGSH):c.975G>T (p.Trp325Cys) SNV
Germline		 Chr17:80210986 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA294891180 rs_201413321

1 SubmittersRCV002008114
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter) SNV
Germline		 Chr17:80210868 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401359160 rs_1459579613

3 SubmittersRCV001986976
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg) SNV
Germline		 Chr17:80212197 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA401359915 rs_765361603

5 SubmittersRCV001986995RCV003156370
NM_000199.5(SGSH):c.314G>A (p.Arg105Gln) SNV
Germline		 Chr17:80215074 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8818086 rs_375058146

2 SubmittersRCV001954582RCV003167219
NM_000199.5(SGSH):c.506+1G>A SNV
Germline		 Chr17:80214614 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA8817999 rs_763063355

3 SubmittersRCV001942694
NM_000199.5(SGSH):c.301T>C (p.Phe101Leu) SNV
Germline		 Chr17:80215087 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401363772 rs_1322090067

1 SubmittersRCV002015642
NM_000199.5(SGSH):c.303C>A (p.Phe101Leu) SNV
Germline		 Chr17:80215085 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401363767 rs_150482611

1 SubmittersRCV001942251
NM_000199.5(SGSH):c.391G>A (p.Val131Met) SNV
Germline		 Chr17:80214730 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
not specified		 Criteria Provided
Conflicting Classifications
 CA8818031 rs_370636303

3 SubmittersRCV001908041RCV003987924
NM_000199.5(SGSH):c.1154G>A (p.Arg385His) SNV
Germline		 Chr17:80210807 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA294890757 rs_944844493

2 SubmittersRCV001918833RCV004043332
NM_000199.5(SGSH):c.418G>T (p.Glu140Ter) SNV
Germline		 Chr17:80214703 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401362920 rs_2144749282

1 SubmittersRCV001951052
NM_000199.5(SGSH):c.88G>C (p.Ala30Pro) SNV
Germline		 Chr17:80220226 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA8818198 rs_758793075

1 SubmittersRCV002039517
NM_000199.5(SGSH):c.2T>G (p.Met1Arg) SNV
Germline		 Chr17:80220312 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401365706 rs_1488660868

1 SubmittersRCV001951435
NM_000199.5(SGSH):c.727G>A (p.Val243Ile) SNV
Germline		 Chr17:80213822 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8817824 rs_770944322

2 SubmittersRCV002029222RCV004046804
NM_000199.5(SGSH):c.302T>C (p.Phe101Ser) SNV
Germline		 Chr17:80215086 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401363769 rs_1211675075

2 SubmittersRCV001863677
NM_000199.5(SGSH):c.188C>A (p.Ala63Asp) SNV
Germline		 Chr17:80217093 Likely pathogenic See cases
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA401364307 rs_985515930

2 SubmittersRCV004584559RCV003097734
NM_000199.5(SGSH):c.396C>A (p.Tyr132Ter) SNV
Unknown		 Chr17:80214725 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401363083 rs_2510894157

1 SubmittersRCV002307857
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn) SNV
Germline		 Chr17:80214300 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA8817954 rs_774773010

3 SubmittersRCV003064495
NM_000199.5(SGSH):c.250-2A>G SNV
Germline		 Chr17:80215140 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA8818099 rs_745319635

2 SubmittersRCV003064496
NM_000199.5(SGSH):c.239G>T (p.Gly80Val) SNV
Germline		 Chr17:80217042 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401364099 rs_2510909137

1 SubmittersRCV003064497
NM_000199.5(SGSH):c.1450G>A (p.Asp484Asn) SNV
Germline		 Chr17:80210511 Conflicting classifications of pathogenicity Inborn genetic diseases
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA8817579 rs_190505648

2 SubmittersRCV004070287RCV003076444
NM_000199.5(SGSH):c.1186T>C (p.Phe396Leu) SNV
Germline		 Chr17:80210775 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA8817652 rs_775569624

1 SubmittersRCV003118983
NM_000199.5(SGSH):c.197C>T (p.Ser66Leu) SNV
Germline		 Chr17:80217084 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
not specified		 Criteria Provided
Conflicting Classifications
 CA294900009 rs_104894637

2 SubmittersRCV002593361RCV004526936
NM_000199.5(SGSH):c.481A>T (p.Lys161Ter) SNV
Germline		 Chr17:80214640 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401362555 rs_2510893618

1 SubmittersRCV002681915
NM_000199.5(SGSH):c.1129C>A (p.Arg377Ser) SNV
Germline		 Chr17:80210832 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401359080 rs_772311757

1 SubmittersRCV002766022
NM_000199.5(SGSH):c.915G>A (p.Trp305Ter) SNV
Germline		 Chr17:80212105 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401359676 rs_1598742418

1 SubmittersRCV002838762
NM_000199.5(SGSH):c.364G>C (p.Gly122Arg) SNV
Germline		 Chr17:80214757 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401363324 rs_761607612

1 SubmittersRCV002863612
NM_000199.5(SGSH):c.1394G>A (p.Arg465Gln) SNV
Germline		 Chr17:80210567 Conflicting classifications of pathogenicity Inborn genetic diseases
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications
 CA401358533 rs_1294240905

2 SubmittersRCV002970842RCV002970841
NM_000199.5(SGSH):c.663+1G>A SNV
Germline		 Chr17:80214171 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401361681 rs_2510889949

1 SubmittersRCV003045902
NM_000199.5(SGSH):c.220C>A (p.Arg74Ser) SNV
Germline		 Chr17:80217061 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401364151 rs_104894636

2 SubmittersRCV003156720
NM_000199.5(SGSH):c.221G>T (p.Arg74Leu) SNV
Germline		 Chr17:80217060 Pathogenic Mucopolysaccharidosis, MPS-III-A No Assertion Criteria Provided
 CA401364148 rs_778336949

1 SubmittersRCV003313761
NM_000199.5(SGSH):c.1317C>A (p.Tyr439Ter) SNV
Unknown		 Chr17:80210644 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401358686 rs_146522699

1 SubmittersRCV003472706
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter) SNV
Germline		 Chr17:80214190 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401361762 rs_151227799

2 SubmittersRCV003472707
NM_000199.5(SGSH):c.949+1G>A SNV
Germline		 Chr17:80212070 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA401359602 rs_766840480

2 SubmittersRCV003472709
NM_000199.5(SGSH):c.1073G>A (p.Trp358Ter) SNV
Unknown		 Chr17:80210888 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401359206 rs_2041622931

1 SubmittersRCV003472714
NM_000199.5(SGSH):c.1063G>T (p.Glu355Ter) SNV
Unknown		 Chr17:80210898 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401359225 rs_766938111

1 SubmittersRCV003472722
NM_000199.5(SGSH):c.539C>T (p.Pro180Leu) SNV
Germline		 Chr17:80214296 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications
 CA401362213 rs_2510890872

2 SubmittersRCV003506590
NM_000199.5(SGSH):c.254A>G (p.Gln85Arg) SNV
Germline		 Chr17:80215134 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401364015 rs_2510898674

1 SubmittersRCV003506592
NM_000199.5(SGSH):c.120C>G (p.Tyr40Ter) SNV
Germline		 Chr17:80217161 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401364626 rs_562933313

1 SubmittersRCV003506593
NM_000199.5(SGSH):c.1418G>A (p.Trp473Ter) SNV
Germline		 Chr17:80210543 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401358475 rs_2510855573

1 SubmittersRCV003504806
NM_000199.5(SGSH):c.1431C>A (p.Asp477Glu) SNV
Germline		 Chr17:80210530 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401358442 rs_2510855421

1 SubmittersRCV003504921
NM_000199.5(SGSH):c.496C>T (p.Gln166Ter) SNV
Germline		 Chr17:80214625 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401362468 rs_2510893525

1 SubmittersRCV003504910
NM_000199.5(SGSH):c.703G>T (p.Asp235Tyr) SNV
Germline		 Chr17:80213846 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401361352 rs_753472891

1 SubmittersRCV003614266
NM_000199.5(SGSH):c.733C>A (p.Arg245Ser) SNV
Germline		 Chr17:80213816 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401361138 rs_1455698449

1 SubmittersRCV003614391
NM_000199.5(SGSH):c.703G>C (p.Asp235His) SNV
Germline		 Chr17:80213846 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401361351 rs_753472891

1 SubmittersRCV003613729
NM_000199.5(SGSH):c.598G>T (p.Gly200Ter) SNV
Germline		 Chr17:80214237 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401361948 rs_767834681

1 SubmittersRCV003614659
NM_000199.5(SGSH):c.1268G>A (p.Trp423Ter) SNV
Germline		 Chr17:80210693 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401358791 rs_886053559

1 SubmittersRCV003615074
NM_000199.5(SGSH):c.1345C>T (p.Gln449Ter) SNV
Germline		 Chr17:80210616 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Multiple Submitters
No Conflicts
 CA8817602 rs_755951235

2 SubmittersRCV003615217
NM_000199.5(SGSH):c.1340A>G (p.Glu447Gly) SNV
Germline		 Chr17:80210621 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401358645 rs_2510856564

1 SubmittersRCV003615505
NM_000199.5(SGSH):c.277C>T (p.Gln93Ter) SNV
Germline		 Chr17:80215111 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 CA401363884 rs_1293427858

1 SubmittersRCV003869454
NM_000199.5(SGSH):c.506+2T>A SNV
Unknown		 Chr17:80214613 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 rs_2510893463

1 SubmittersRCV004573584
NM_000199.5(SGSH):c.763C>T (p.Gln255Ter) SNV
Unknown		 Chr17:80212257 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 rs_1227431766

1 SubmittersRCV004573586
NM_000199.5(SGSH):c.247C>T (p.Gln83Ter) SNV
Unknown		 Chr17:80217034 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 rs_2510909052

1 SubmittersRCV004573587
NM_000199.5(SGSH):c.1290C>A (p.Tyr430Ter) SNV
Unknown		 Chr17:80210671 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter
 rs_2144692159

1 SubmittersRCV004573588
NM_000199.5(SGSH):c.822C>G (p.Asn274Lys) SNV
Germline		 Chr17:80212198 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A Criteria Provided
Conflicting Classifications

2 SubmittersRCV004597212
NM_000199.5(SGSH):c.1120T>C (p.Tyr374His) SNV
Germline		 Chr17:80210841 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter

1 SubmittersRCV004813400
NM_000199.5(SGSH):c.664-13C>G SNV
Germline		 Chr17:80213898 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter

1 SubmittersRCV004821094
NM_000199.5(SGSH):c.224C>T (p.Ala75Val) SNV
Germline		 Chr17:80217057 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-III-A		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004823368RCV005107467
NM_000199.5(SGSH):c.1414C>T (p.Gln472Ter) SNV
Germline		 Chr17:80210547 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter

1 SubmittersRCV005026143
NM_000199.5(SGSH):c.449G>C (p.Arg150Pro) SNV
Germline		 Chr17:80214672 Likely pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter

1 SubmittersRCV005022800
NM_000199.5(SGSH):c.120C>A (p.Tyr40Ter) SNV
Germline		 Chr17:80217161 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter

1 SubmittersRCV005026144
NM_000199.5(SGSH):c.745G>T (p.Gly249Ter) SNV
Germline		 Chr17:80213804 Pathogenic Mucopolysaccharidosis, MPS-III-A Criteria Provided
Single Submitter

1 SubmittersRCV005123521