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 SubmittersRCV000002902 RCV000031982 RCV000032336 RCV000665095 RCV001781171
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)	SNV Germline	Chr12:101830666	Pathogenic/Likely pathogenic	Pseudo-Hurler polydystrophy Mucopolysaccharidosis, MPS-III-A Mucolipidosis type II Pseudo-Hurler polydystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252414	rs_34159654	4 SubmittersRCV000002903 RCV000031965 RCV000669013
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	22 SubmittersRCV000005415 RCV000078354 RCV000626628 RCV001030813
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 SubmittersRCV000005416 RCV000790770 RCV002512806
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	4 SubmittersRCV000005417 RCV004766982
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)	SNV Germline	Chr17:80214672	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-III-A SGSH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA117262	rs_104894638	9 SubmittersRCV000005420 RCV004755712
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 SubmittersRCV000005421 RCV000413635 RCV000624626
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 SubmittersRCV000005424 RCV000078349 RCV003894791
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	Criteria Provided Multiple Submitters No Conflicts	CA340985	rs_199422227	9 SubmittersRCV000011232 RCV001831559 RCV004584323
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	Criteria Provided Multiple Submitters No Conflicts	CA129225	rs_138504221	26 SubmittersRCV000023412 RCV000078357 RCV000326423 RCV001003995 RCV001030818 RCV001837443 RCV004965262
NM_024312.5(GNPTAB):c.3435-1G>A	SNV Not provided	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 Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II	Criteria Provided Multiple Submitters No Conflicts	CA343083	rs_34946266	4 SubmittersRCV000031988 RCV000632919 RCV001729354
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter)	SNV Germline	Chr12:101771097	Pathogenic	Mucopolysaccharidosis, MPS-III-A Pseudo-Hurler polydystrophy Mucolipidosis type II Mucolipidosis type II	Criteria Provided Single Submitter	CA343085	rs_35878526	3 SubmittersRCV000031991 RCV001214189 RCV001826527
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	7 SubmittersRCV000078358 RCV000671585
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)	SNV Germline	ChrX:149504293	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-II Mucopolysaccharidosis, MPS-III-A IDS-related disorder	Criteria Provided Conflicting Classifications	CA241305	rs_144081417	7 SubmittersRCV000675884 RCV001081199 RCV001835703 RCV003965264
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 SubmittersRCV000177013 RCV001085852 RCV001826898
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 SubmittersRCV000179273 RCV001376860
NM_000202.8(IDS):c.925A>G (p.Thr309Ala)	SNV Germline	ChrX:149490395	Conflicting classifications of pathogenicity	not specified Condition: not provided Mucopolysaccharidosis, MPS-II Mucopolysaccharidosis, MPS-III-A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA203395	rs_145807417	7 SubmittersRCV000179733 RCV000675877 RCV000990962 RCV001833092 RCV002312728
NM_000202.8(IDS):c.1227G>A (p.Thr409=)	SNV Germline	ChrX:149483172	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-II Mucopolysaccharidosis, MPS-III-A	Criteria Provided Conflicting Classifications	CA247947	rs_201905166	4 SubmittersRCV000180474 RCV001078787 RCV001826923
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)	SNV Germline	Chr17:80213874	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-III-A	Criteria Provided Conflicting Classifications	CA8817846	rs_34520362	5 SubmittersRCV000224603 RCV000675098
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 SubmittersRCV000224037 RCV001085633 RCV003947736
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 SubmittersRCV000253023 RCV000967719 RCV003891840
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 SubmittersRCV000255725 RCV000409289 RCV001266815
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)	SNV Germline	Chr17:80210822	Pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-III-A Mucopolysaccharidosis	Criteria Provided Multiple Submitters No Conflicts	CA8817662	rs_144143780	13 SubmittersRCV000309724 RCV000666337 RCV001030814
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)	SNV Germline	Chr17:80214206	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-III-A	Criteria Provided Multiple Submitters No Conflicts	CA10603615	rs_886041370	6 SubmittersRCV000345601 RCV000674194
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 SubmittersRCV000353621 RCV001088215 RCV001833368
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 SubmittersRCV000372460 RCV001413181
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 SubmittersRCV000334808 RCV003324744
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 SubmittersRCV000762219 RCV001082720
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	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-III-A	Criteria Provided Conflicting Classifications	CA8817682	rs_766938111	8 SubmittersRCV000414288 RCV000489539
NM_000199.5(SGSH):c.411G>A (p.Ala137=)	SNV Germline	Chr17:80214710	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-III-A not specified Condition: not provided SGSH-related disorder	Criteria Provided Conflicting Classifications	CA8818023	rs_142557761	8 SubmittersRCV000959194 RCV001699369 RCV001726116 RCV003910247
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 SubmittersRCV000399603 RCV001800655 RCV002523033
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 SubmittersRCV000958745 RCV004755880
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)	SNV Germline	Chr17:80213852	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-III-A Sanfilippo syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA8817835	rs_374621913	10 SubmittersRCV000409562 RCV000588098 RCV003128796 RCV004022138
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 SubmittersRCV000413476 RCV001035206
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 SubmittersRCV000413143 RCV000672002
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 SubmittersRCV000412969 RCV002524639
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 SubmittersRCV000426187 RCV000489872
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 SubmittersRCV000439024 RCV000984216
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	2 SubmittersRCV000485142 RCV003155207
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 SubmittersRCV000478188 RCV001123038
NM_000202.8(IDS):c.934G>A (p.Gly312Ser)	SNV Germline	ChrX:149490386	Conflicting classifications of pathogenicity	Condition: not provided not specified Mucopolysaccharidosis, MPS-II Mucopolysaccharidosis, MPS-III-A	Criteria Provided Conflicting Classifications	CA16621219	rs_903259179	7 SubmittersRCV000481557 RCV001293485 RCV001785635 RCV001834576
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)	SNV Germline	ChrX:149496471	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-II not specified Mucopolysaccharidosis, MPS-III-A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10537604	rs_146458524	11 SubmittersRCV000487550 RCV001081450 RCV001530082 RCV001829395 RCV002318593
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 SubmittersRCV000494203 RCV000672621 RCV003235251
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 SubmittersRCV000675880 RCV001081804 RCV001834749 RCV002316480
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	5 SubmittersRCV000578657 RCV000664735
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)	SNV Germline	Chr17:80214757	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-III-A Condition: not provided Abnormality of metabolism/homeostasis	Criteria Provided Multiple Submitters No Conflicts	CA8818041	rs_761607612	12 SubmittersRCV000612947 RCV001539080 RCV001814197
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 SubmittersRCV000626217 RCV002285381
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		rs_758756630	4 SubmittersRCV000657915 RCV000667635
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		rs_1424242431	3 SubmittersRCV000664660
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter)	SNV Germline	Chr17:80210653	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Multiple Submitters No Conflicts		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		rs_775112689	8 SubmittersRCV000666794 RCV001293360
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		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		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		rs_1555621659	6 SubmittersRCV000673158 RCV001571102
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		rs_777267343	7 SubmittersRCV000665964 RCV002293469
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)	SNV Germline	Chr17:80210794	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-III-A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_764057581	6 SubmittersRCV000665218 RCV002275097
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		rs_780239925	5 SubmittersRCV000672190 RCV004586867
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		rs_745884647	4 SubmittersRCV000671474 RCV002282312
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)	SNV Germline	Chr17:80212203	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-III-A not specified	Criteria Provided Conflicting Classifications		rs_1046551417	6 SubmittersRCV000668913 RCV000781846
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		rs_1347877363	5 SubmittersRCV000670024 RCV003148823 RCV004768534
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		rs_753472891	8 SubmittersRCV000668365 RCV003420182 RCV004760689
NM_000199.5(SGSH):c.664-1G>T	SNV Germline	Chr17:80213886	Likely pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Multiple Submitters No Conflicts		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		rs_778336949	9 SubmittersRCV000665263 RCV004719928 RCV004756002
NM_000199.5(SGSH):c.54C>A (p.Cys18Ter)	SNV Unknown	Chr17:80220260	Likely pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter		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		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		rs_774010006	6 SubmittersRCV000665315
NM_000199.5(SGSH):c.1A>G (p.Met1Val)	SNV Germline	Chr17:80220313	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-III-A Condition: not provided	Criteria Provided Conflicting Classifications		rs_1250300189	7 SubmittersRCV000667488 RCV001531871
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		rs_146522699	5 SubmittersRCV000676146 RCV001084505 RCV003953230
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)	SNV Germline	Chr17:80210832	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-III-A Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_772311757	9 SubmittersRCV000676150 RCV001246288 RCV001266348
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		rs_141720810	6 SubmittersRCV000872965 RCV001572835 RCV001825440 RCV002316687
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		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		rs_1369704445	2 SubmittersRCV000785043
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)	SNV Germline	Chr17:80214673	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Conflicting Classifications		rs_1479831530	5 SubmittersRCV000790554
NM_000199.5(SGSH):c.118T>A (p.Tyr40Asn)	SNV Germline	Chr17:80217163	Likely pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter		rs_1598758001	1 SubmittersRCV000790553
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr)	SNV Germline	Chr17:80214287	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Conflicting Classifications		rs_1329133410	3 SubmittersRCV000795469
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		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		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		rs_782445506	3 SubmittersRCV000946036 RCV001827038
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		rs_530964770	5 SubmittersRCV000891888
NM_000199.5(SGSH):c.658G>T (p.Val220Leu)	SNV Germline	Chr17:80214177	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-III-A Condition: not provided SGSH-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_150508741	6 SubmittersRCV000880902 RCV002298798 RCV003920523 RCV004962905
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		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		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		rs_376787615	5 SubmittersRCV000904702 RCV004756096
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		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		rs_782561677	4 SubmittersRCV000899428 RCV001825812 RCV002363345
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		rs_191465934	2 SubmittersRCV000930274 RCV004720022
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		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		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		rs_757563981	3 SubmittersRCV001070614
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		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		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		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		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		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		rs_1385318543	5 SubmittersRCV001205081 RCV003490119 RCV004774295
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		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		rs_367805575	3 SubmittersRCV001244486 RCV003329386
NM_000202.8(IDS):c.1478G>A (p.Arg493His)	SNV Germline	ChrX:149482921	Conflicting classifications of pathogenicity	Inborn genetic diseases Mucopolysaccharidosis, MPS-II Mucopolysaccharidosis, MPS-III-A	Criteria Provided Conflicting Classifications		rs_782347729	4 SubmittersRCV002393637 RCV001243617 RCV001829038
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		rs_1479456289	5 SubmittersRCV001262986 RCV004697095
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		rs_1385473515	2 SubmittersRCV001341559
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg)	SNV Germline	Chr17:80215120	Likely pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Multiple Submitters No Conflicts		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		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		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		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		rs_2041818115	2 SubmittersRCV001389566
NM_000202.8(IDS):c.1100C>T (p.Thr367Met)	SNV Germline	ChrX:149487005	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-II Inborn genetic diseases Mucopolysaccharidosis, MPS-III-A	Criteria Provided Conflicting Classifications		rs_782588855	3 SubmittersRCV001410809 RCV002456656 RCV001831453
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		rs_760618916	2 SubmittersRCV001451673 RCV003284334
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		rs_782488487	3 SubmittersRCV001520733 RCV001836438
NM_000199.5(SGSH):c.716A>G (p.Gln239Arg)	SNV Germline	Chr17:80213833	Pathogenic	Mucopolysaccharidosis, MPS-III-A	No Assertion Criteria Provided		rs_1352066127	1 SubmittersRCV001542696
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)	SNV Germline	Chr17:80210831	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-III-A SGSH-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_746037899	8 SubmittersRCV001723456 RCV001780433 RCV004756280
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		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		rs_201413321	1 SubmittersRCV002008114
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter)	SNV Germline	Chr17:80210868	Pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Multiple Submitters No Conflicts		rs_1459579613	2 SubmittersRCV001986976
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)	SNV Germline	Chr17:80212197	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-III-A Condition: not provided	Criteria Provided Conflicting Classifications		rs_765361603	4 SubmittersRCV001986995 RCV003156370
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		rs_375058146	2 SubmittersRCV001954582 RCV003167219
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		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		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		rs_150482611	1 SubmittersRCV001942251
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		rs_944844493	2 SubmittersRCV001918833 RCV004043332
NM_000199.5(SGSH):c.418G>T (p.Glu140Ter)	SNV Germline	Chr17:80214703	Pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter		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		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		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		rs_770944322	2 SubmittersRCV002029222 RCV004046804
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		rs_1211675075	2 SubmittersRCV001863677
NM_000199.5(SGSH):c.188C>A (p.Ala63Asp)	SNV Germline	Chr17:80217093	Likely pathogenic	Mucopolysaccharidosis, MPS-III-A See cases	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003097734 RCV004584559
NM_000199.5(SGSH):c.396C>A (p.Tyr132Ter)	SNV Unknown	Chr17:80214725	Likely pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			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			3 SubmittersRCV003064495
NM_000199.5(SGSH):c.250-2A>G	SNV Germline	Chr17:80215140	Likely pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			1 SubmittersRCV003064496
NM_000199.5(SGSH):c.239G>T (p.Gly80Val)	SNV Germline	Chr17:80217042	Likely pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			1 SubmittersRCV003064497
NM_000199.5(SGSH):c.1450G>A (p.Asp484Asn)	SNV Germline	Chr17:80210511	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-III-A Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003076444 RCV004070287
NM_000199.5(SGSH):c.1186T>C (p.Phe396Leu)	SNV Germline	Chr17:80210775	Likely pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			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			2 SubmittersRCV002593361 RCV004526936
NM_000199.5(SGSH):c.481A>T (p.Lys161Ter)	SNV Germline	Chr17:80214640	Pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			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			1 SubmittersRCV002766022
NM_000199.5(SGSH):c.915G>A (p.Trp305Ter)	SNV Germline	Chr17:80212105	Pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			1 SubmittersRCV002838762
NM_000199.5(SGSH):c.364G>C (p.Gly122Arg)	SNV Germline	Chr17:80214757	Pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			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			2 SubmittersRCV002970842 RCV002970841
NM_000199.5(SGSH):c.663+1G>A	SNV Germline	Chr17:80214171	Likely pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			1 SubmittersRCV003045902
NM_000199.5(SGSH):c.220C>A (p.Arg74Ser)	SNV Germline	Chr17:80217061	Pathogenic	Mucopolysaccharidosis, MPS-III-A	No Assertion Criteria Provided			1 SubmittersRCV003156720
NM_000199.5(SGSH):c.364G>T (p.Gly122Trp)	SNV Germline	Chr17:80214757	Pathogenic	Mucopolysaccharidosis, MPS-III-A	No Assertion Criteria Provided			1 SubmittersRCV003313759
NM_000199.5(SGSH):c.221G>T (p.Arg74Leu)	SNV Germline	Chr17:80217060	Pathogenic	Mucopolysaccharidosis, MPS-III-A	No Assertion Criteria Provided			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			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			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			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			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			1 SubmittersRCV003472722
NM_000199.5(SGSH):c.539C>T (p.Pro180Leu)	SNV Germline	Chr17:80214296	Likely pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			1 SubmittersRCV003506590
NM_000199.5(SGSH):c.254A>G (p.Gln85Arg)	SNV Germline	Chr17:80215134	Likely pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			1 SubmittersRCV003506592
NM_000199.5(SGSH):c.120C>G (p.Tyr40Ter)	SNV Germline	Chr17:80217161	Pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			1 SubmittersRCV003506593
NM_000199.5(SGSH):c.1418G>A (p.Trp473Ter)	SNV Germline	Chr17:80210543	Pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			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			1 SubmittersRCV003504921
NM_000199.5(SGSH):c.496C>T (p.Gln166Ter)	SNV Germline	Chr17:80214625	Pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			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			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			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			1 SubmittersRCV003613729
NM_000199.5(SGSH):c.598G>T (p.Gly200Ter)	SNV Germline	Chr17:80214237	Pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			1 SubmittersRCV003614659
NM_000199.5(SGSH):c.1268G>A (p.Trp423Ter)	SNV Germline	Chr17:80210693	Pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			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			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			1 SubmittersRCV003615505
NM_000199.5(SGSH):c.277C>T (p.Gln93Ter)	SNV Germline	Chr17:80215111	Pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			1 SubmittersRCV003869454
NM_000199.5(SGSH):c.506+2T>A	SNV Unknown	Chr17:80214613	Likely pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			1 SubmittersRCV004573584
NM_000199.5(SGSH):c.763C>T (p.Gln255Ter)	SNV Unknown	Chr17:80212257	Pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			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			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			1 SubmittersRCV004573588
NM_000199.5(SGSH):c.822C>G (p.Asn274Lys)	SNV Germline	Chr17:80212198	Likely pathogenic	Mucopolysaccharidosis, MPS-III-A	Criteria Provided Single Submitter			1 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

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 SubmittersRCV000002902 RCV000031982 RCV000032336 RCV000665095 RCV001781171

NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)

SNV
Germline

Chr12:101830666

Pathogenic/Likely pathogenic

Pseudo-Hurler polydystrophy
Mucopolysaccharidosis, MPS-III-A
Mucolipidosis type II
Pseudo-Hurler polydystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252414

rs_34159654

4 SubmittersRCV000002903 RCV000031965 RCV000669013

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

22 SubmittersRCV000005415 RCV000078354 RCV000626628 RCV001030813

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 SubmittersRCV000005416 RCV000790770 RCV002512806

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

4 SubmittersRCV000005417 RCV004766982

NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)

SNV
Germline

Chr17:80214672

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-A
SGSH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA117262

rs_104894638

9 SubmittersRCV000005420 RCV004755712

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 SubmittersRCV000005421 RCV000413635 RCV000624626

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 SubmittersRCV000005424 RCV000078349 RCV003894791

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

Criteria Provided
Multiple Submitters
No Conflicts

CA340985

rs_199422227

9 SubmittersRCV000011232 RCV001831559 RCV004584323

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

Criteria Provided
Multiple Submitters
No Conflicts

CA129225

rs_138504221

26 SubmittersRCV000023412 RCV000078357 RCV000326423 RCV001003995 RCV001030818 RCV001837443 RCV004965262

NM_024312.5(GNPTAB):c.3435-1G>A

SNV
Not provided

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
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA343083

rs_34946266

4 SubmittersRCV000031988 RCV000632919 RCV001729354

NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter)

SNV
Germline

Chr12:101771097

Pathogenic

Mucopolysaccharidosis, MPS-III-A
Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II

Criteria Provided
Single Submitter

CA343085

rs_35878526

3 SubmittersRCV000031991 RCV001214189 RCV001826527

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

7 SubmittersRCV000078358 RCV000671585

NM_000202.8(IDS):c.104A>G (p.Asp35Gly)

SNV
Germline

ChrX:149504293

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
IDS-related disorder

Criteria Provided
Conflicting Classifications

CA241305

rs_144081417

7 SubmittersRCV000675884 RCV001081199 RCV001835703 RCV003965264

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 SubmittersRCV000177013 RCV001085852 RCV001826898

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 SubmittersRCV000179273 RCV001376860

NM_000202.8(IDS):c.925A>G (p.Thr309Ala)

SNV
Germline

ChrX:149490395

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA203395

rs_145807417

7 SubmittersRCV000179733 RCV000675877 RCV000990962 RCV001833092 RCV002312728

NM_000202.8(IDS):c.1227G>A (p.Thr409=)

SNV
Germline

ChrX:149483172

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Conflicting Classifications

CA247947

rs_201905166

4 SubmittersRCV000180474 RCV001078787 RCV001826923

NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)

SNV
Germline

Chr17:80213874

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Conflicting Classifications

CA8817846

rs_34520362

5 SubmittersRCV000224603 RCV000675098

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 SubmittersRCV000224037 RCV001085633 RCV003947736

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 SubmittersRCV000253023 RCV000967719 RCV003891840

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 SubmittersRCV000255725 RCV000409289 RCV001266815

NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)

SNV
Germline

Chr17:80210822

Pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-III-A
Mucopolysaccharidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8817662

rs_144143780

13 SubmittersRCV000309724 RCV000666337 RCV001030814

NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)

SNV
Germline

Chr17:80214206

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Multiple Submitters
No Conflicts

CA10603615

rs_886041370

6 SubmittersRCV000345601 RCV000674194

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 SubmittersRCV000353621 RCV001088215 RCV001833368

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 SubmittersRCV000372460 RCV001413181

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 SubmittersRCV000334808 RCV003324744

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 SubmittersRCV000762219 RCV001082720

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

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Conflicting Classifications

CA8817682

rs_766938111

8 SubmittersRCV000414288 RCV000489539

NM_000199.5(SGSH):c.411G>A (p.Ala137=)

SNV
Germline

Chr17:80214710

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-A
not specified
Condition: not provided
SGSH-related disorder

Criteria Provided
Conflicting Classifications

CA8818023

rs_142557761

8 SubmittersRCV000959194 RCV001699369 RCV001726116 RCV003910247

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 SubmittersRCV000399603 RCV001800655 RCV002523033

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 SubmittersRCV000958745 RCV004755880

NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)

SNV
Germline

Chr17:80213852

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-A
Sanfilippo syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA8817835

rs_374621913

10 SubmittersRCV000409562 RCV000588098 RCV003128796 RCV004022138

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 SubmittersRCV000413476 RCV001035206

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 SubmittersRCV000413143 RCV000672002

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 SubmittersRCV000412969 RCV002524639

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 SubmittersRCV000426187 RCV000489872

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 SubmittersRCV000439024 RCV000984216

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

2 SubmittersRCV000485142 RCV003155207

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 SubmittersRCV000478188 RCV001123038

NM_000202.8(IDS):c.934G>A (p.Gly312Ser)

SNV
Germline

ChrX:149490386

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Conflicting Classifications

CA16621219

rs_903259179

7 SubmittersRCV000481557 RCV001293485 RCV001785635 RCV001834576

NM_000202.8(IDS):c.754G>A (p.Asp252Asn)

SNV
Germline

ChrX:149496471

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-II
not specified
Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10537604

rs_146458524

11 SubmittersRCV000487550 RCV001081450 RCV001530082 RCV001829395 RCV002318593

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 SubmittersRCV000494203 RCV000672621 RCV003235251

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 SubmittersRCV000675880 RCV001081804 RCV001834749 RCV002316480

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

5 SubmittersRCV000578657 RCV000664735

NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)

SNV
Germline

Chr17:80214757

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-A
Condition: not provided
Abnormality of metabolism/homeostasis

Criteria Provided
Multiple Submitters
No Conflicts

CA8818041

rs_761607612

12 SubmittersRCV000612947 RCV001539080 RCV001814197

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 SubmittersRCV000626217 RCV002285381

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

rs_758756630

4 SubmittersRCV000657915 RCV000667635

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

rs_1424242431

3 SubmittersRCV000664660

NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter)

SNV
Germline

Chr17:80210653

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_775112689

8 SubmittersRCV000666794 RCV001293360

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

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

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

rs_1555621659

6 SubmittersRCV000673158 RCV001571102

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

rs_777267343

7 SubmittersRCV000665964 RCV002293469

NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)

SNV
Germline

Chr17:80210794

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_764057581

6 SubmittersRCV000665218 RCV002275097

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

rs_780239925

5 SubmittersRCV000672190 RCV004586867

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

rs_745884647

4 SubmittersRCV000671474 RCV002282312

NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)

SNV
Germline

Chr17:80212203

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-A
not specified

Criteria Provided
Conflicting Classifications

rs_1046551417

6 SubmittersRCV000668913 RCV000781846

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

rs_1347877363

5 SubmittersRCV000670024 RCV003148823 RCV004768534

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

rs_753472891

8 SubmittersRCV000668365 RCV003420182 RCV004760689

NM_000199.5(SGSH):c.664-1G>T

SNV
Germline

Chr17:80213886

Likely pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_778336949

9 SubmittersRCV000665263 RCV004719928 RCV004756002

NM_000199.5(SGSH):c.54C>A (p.Cys18Ter)

SNV
Unknown

Chr17:80220260

Likely pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

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

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

rs_774010006

6 SubmittersRCV000665315

NM_000199.5(SGSH):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:80220313

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1250300189

7 SubmittersRCV000667488 RCV001531871

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

rs_146522699

5 SubmittersRCV000676146 RCV001084505 RCV003953230

NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)

SNV
Germline

Chr17:80210832

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_772311757

9 SubmittersRCV000676150 RCV001246288 RCV001266348

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

rs_141720810

6 SubmittersRCV000872965 RCV001572835 RCV001825440 RCV002316687

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

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

rs_1369704445

2 SubmittersRCV000785043

NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)

SNV
Germline

Chr17:80214673

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Conflicting Classifications

rs_1479831530

5 SubmittersRCV000790554

NM_000199.5(SGSH):c.118T>A (p.Tyr40Asn)

SNV
Germline

Chr17:80217163

Likely pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

rs_1598758001

1 SubmittersRCV000790553

NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr)

SNV
Germline

Chr17:80214287

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Conflicting Classifications

rs_1329133410

3 SubmittersRCV000795469

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

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

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

rs_782445506

3 SubmittersRCV000946036 RCV001827038

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

rs_530964770

5 SubmittersRCV000891888

NM_000199.5(SGSH):c.658G>T (p.Val220Leu)

SNV
Germline

Chr17:80214177

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-A
Condition: not provided
SGSH-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_150508741

6 SubmittersRCV000880902 RCV002298798 RCV003920523 RCV004962905

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

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

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

rs_376787615

5 SubmittersRCV000904702 RCV004756096

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

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

rs_782561677

4 SubmittersRCV000899428 RCV001825812 RCV002363345

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

rs_191465934

2 SubmittersRCV000930274 RCV004720022

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

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

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

rs_757563981

3 SubmittersRCV001070614

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

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

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

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

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

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

rs_1385318543

5 SubmittersRCV001205081 RCV003490119 RCV004774295

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

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

rs_367805575

3 SubmittersRCV001244486 RCV003329386

NM_000202.8(IDS):c.1478G>A (p.Arg493His)

SNV
Germline

ChrX:149482921

Conflicting classifications of pathogenicity

Inborn genetic diseases
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Conflicting Classifications

rs_782347729

4 SubmittersRCV002393637 RCV001243617 RCV001829038

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

rs_1479456289

5 SubmittersRCV001262986 RCV004697095

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

rs_1385473515

2 SubmittersRCV001341559

NM_000199.5(SGSH):c.268G>C (p.Gly90Arg)

SNV
Germline

Chr17:80215120

Likely pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

rs_2041818115

2 SubmittersRCV001389566

NM_000202.8(IDS):c.1100C>T (p.Thr367Met)

SNV
Germline

ChrX:149487005

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-II
Inborn genetic diseases
Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Conflicting Classifications

rs_782588855

3 SubmittersRCV001410809 RCV002456656 RCV001831453

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

rs_760618916

2 SubmittersRCV001451673 RCV003284334

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

rs_782488487

3 SubmittersRCV001520733 RCV001836438

NM_000199.5(SGSH):c.716A>G (p.Gln239Arg)

SNV
Germline

Chr17:80213833

Pathogenic

Mucopolysaccharidosis, MPS-III-A

No Assertion Criteria Provided

rs_1352066127

1 SubmittersRCV001542696

NM_000199.5(SGSH):c.1130G>A (p.Arg377His)

SNV
Germline

Chr17:80210831

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-III-A
SGSH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_746037899

8 SubmittersRCV001723456 RCV001780433 RCV004756280

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

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

rs_201413321

1 SubmittersRCV002008114

NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter)

SNV
Germline

Chr17:80210868

Pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1459579613

2 SubmittersRCV001986976

NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)

SNV
Germline

Chr17:80212197

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765361603

4 SubmittersRCV001986995 RCV003156370

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

rs_375058146

2 SubmittersRCV001954582 RCV003167219

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

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

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

rs_150482611

1 SubmittersRCV001942251

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

rs_944844493

2 SubmittersRCV001918833 RCV004043332

NM_000199.5(SGSH):c.418G>T (p.Glu140Ter)

SNV
Germline

Chr17:80214703

Pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

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

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

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

rs_770944322

2 SubmittersRCV002029222 RCV004046804

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

rs_1211675075

2 SubmittersRCV001863677

NM_000199.5(SGSH):c.188C>A (p.Ala63Asp)

SNV
Germline

Chr17:80217093

Likely pathogenic

Mucopolysaccharidosis, MPS-III-A
See cases

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003097734 RCV004584559

NM_000199.5(SGSH):c.396C>A (p.Tyr132Ter)

SNV
Unknown

Chr17:80214725

Likely pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

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

3 SubmittersRCV003064495

NM_000199.5(SGSH):c.250-2A>G

SNV
Germline

Chr17:80215140

Likely pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

1 SubmittersRCV003064496

NM_000199.5(SGSH):c.239G>T (p.Gly80Val)

SNV
Germline

Chr17:80217042

Likely pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

1 SubmittersRCV003064497

NM_000199.5(SGSH):c.1450G>A (p.Asp484Asn)

SNV
Germline

Chr17:80210511

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003076444 RCV004070287

NM_000199.5(SGSH):c.1186T>C (p.Phe396Leu)

SNV
Germline

Chr17:80210775

Likely pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

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

2 SubmittersRCV002593361 RCV004526936

NM_000199.5(SGSH):c.481A>T (p.Lys161Ter)

SNV
Germline

Chr17:80214640

Pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

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

1 SubmittersRCV002766022

NM_000199.5(SGSH):c.915G>A (p.Trp305Ter)

SNV
Germline

Chr17:80212105

Pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

1 SubmittersRCV002838762

NM_000199.5(SGSH):c.364G>C (p.Gly122Arg)

SNV
Germline

Chr17:80214757

Pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

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

2 SubmittersRCV002970842 RCV002970841

NM_000199.5(SGSH):c.663+1G>A

SNV
Germline

Chr17:80214171

Likely pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

1 SubmittersRCV003045902

NM_000199.5(SGSH):c.220C>A (p.Arg74Ser)

SNV
Germline

Chr17:80217061

Pathogenic

Mucopolysaccharidosis, MPS-III-A

No Assertion Criteria Provided

1 SubmittersRCV003156720

NM_000199.5(SGSH):c.364G>T (p.Gly122Trp)

SNV
Germline

Chr17:80214757

Pathogenic

Mucopolysaccharidosis, MPS-III-A

No Assertion Criteria Provided

1 SubmittersRCV003313759

NM_000199.5(SGSH):c.221G>T (p.Arg74Leu)

SNV
Germline

Chr17:80217060

Pathogenic

Mucopolysaccharidosis, MPS-III-A

No Assertion Criteria Provided

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

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

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

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

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

1 SubmittersRCV003472722

NM_000199.5(SGSH):c.539C>T (p.Pro180Leu)

SNV
Germline

Chr17:80214296

Likely pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

1 SubmittersRCV003506590

NM_000199.5(SGSH):c.254A>G (p.Gln85Arg)

SNV
Germline

Chr17:80215134

Likely pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

1 SubmittersRCV003506592

NM_000199.5(SGSH):c.120C>G (p.Tyr40Ter)

SNV
Germline

Chr17:80217161

Pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

1 SubmittersRCV003506593

NM_000199.5(SGSH):c.1418G>A (p.Trp473Ter)

SNV
Germline

Chr17:80210543

Pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

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

1 SubmittersRCV003504921

NM_000199.5(SGSH):c.496C>T (p.Gln166Ter)

SNV
Germline

Chr17:80214625

Pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003613729

NM_000199.5(SGSH):c.598G>T (p.Gly200Ter)

SNV
Germline

Chr17:80214237

Pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

1 SubmittersRCV003614659

NM_000199.5(SGSH):c.1268G>A (p.Trp423Ter)

SNV
Germline

Chr17:80210693

Pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003615505

NM_000199.5(SGSH):c.277C>T (p.Gln93Ter)

SNV
Germline

Chr17:80215111

Pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

1 SubmittersRCV003869454

NM_000199.5(SGSH):c.506+2T>A

SNV
Unknown

Chr17:80214613

Likely pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

1 SubmittersRCV004573584

NM_000199.5(SGSH):c.763C>T (p.Gln255Ter)

SNV
Unknown

Chr17:80212257

Pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV004573588

NM_000199.5(SGSH):c.822C>G (p.Asn274Lys)

SNV
Germline

Chr17:80212198

Likely pathogenic

Mucopolysaccharidosis, MPS-III-A

Criteria Provided
Single Submitter

1 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