Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg)	SNV Germline	Chr5:78969156	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, type vi, severe Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts	CA114601	rs_118203939	4 SubmittersRCV000000926 RCV000677550
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro)	SNV Germline	Chr5:78955486	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, type vi, mild Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications	CA114602	rs_118203940	3 SubmittersRCV000000927 RCV000677586
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)	SNV Germline	Chr5:78781974	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, type vi, severe Mucopolysaccharidosis type 6 Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114603	rs_118203941	7 SubmittersRCV000000928 RCV000179701 RCV000779751 RCV000723435
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln)	SNV Germline	Chr5:78985034	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis type 6 not specified	Criteria Provided Conflicting Classifications	CA114606	rs_397514441	3 SubmittersRCV000224599 RCV000677514 RCV000779750
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)	SNV Germline	Chr5:78984965	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114608	rs_118203942	4 SubmittersRCV000000932 RCV000078002
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)	SNV Germline	Chr5:78964477	Pathogenic	Mucopolysaccharidosis type 6 Condition: not provided Metachromatic leukodystrophy ARSB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114609	rs_118203943	16 SubmittersRCV000000933 RCV000078003 RCV000779747 RCV003904792
NM_000046.5(ARSB):c.1178A>C (p.His393Pro)	SNV Germline	Chr5:78839391	Pathogenic	Mucopolysaccharidosis type 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114610	rs_118203944	7 SubmittersRCV000000934 RCV000424623
NM_000046.5(ARSB):c.1143-1G>C	SNV Germline	Chr5:78839427	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts	CA114611	rs_431905495	8 SubmittersRCV000000935
NM_000046.5(ARSB):c.1143-8T>G	SNV Germline	Chr5:78839434	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts	CA114612	rs_431905496	4 SubmittersRCV000000936
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)	SNV Germline	Chr7:65979782	Pathogenic	Mucopolysaccharidosis type 7 Mucopolysaccharidosis type 6 Condition: not provided GUSB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220466	rs_121918181	10 SubmittersRCV000000953 RCV000586449 RCV000790722 RCV003914794
NM_000046.5(ARSB):c.934T>C (p.Trp312Arg)	SNV Germline	Chr5:78885792	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications	CA220286	rs_398123124	2 SubmittersRCV000078004 RCV002514369
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)	SNV Germline	Chr5:78885755	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis type 6 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA220288	rs_398123125	6 SubmittersRCV000078005 RCV000677616 RCV001266364
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)	SNV Germline	Chr5:78885782	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis type 6 ARSB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA233482	rs_727503809	9 SubmittersRCV000152796 RCV000664046 RCV003415996
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly)	SNV Germline	Chr5:78780549	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts	CA199152	rs_201101343	4 SubmittersRCV000169649
NM_000046.5(ARSB):c.290A>G (p.Gln97Arg)	SNV Germline	Chr5:78984959	Likely pathogenic	Mucopolysaccharidosis type 6	No Assertion Criteria Provided	CA10588994	rs_886039914	1 SubmittersRCV000256474
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser)	SNV Germline	Chr5:78780626	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6 not specified	Criteria Provided Conflicting Classifications	CA3317993	rs_144222167	4 SubmittersRCV000302376 RCV000401780
NM_000046.5(ARSB):c.185T>A (p.Phe62Tyr)	SNV Germline	Chr5:78985064	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis type 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3318344	rs_779228581	3 SubmittersRCV000358815 RCV002519221 RCV003165746
NM_000046.5(ARSB):c.1197C>T (p.Phe399=)	SNV Germline	Chr5:78839372	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications	CA3318086	rs_200793396	2 SubmittersRCV000307105 RCV001082650
NM_000046.5(ARSB):c.1533C>T (p.Pro511=)	SNV Germline	Chr5:78780466	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6 ARSB-related disorder	Criteria Provided Conflicting Classifications	CA3317966	rs_528157833	3 SubmittersRCV000404292 RCV003922560
NM_000046.5(ARSB):c.1337-3T>A	SNV Germline	Chr5:78780665	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications	CA3318000	rs_183651028	3 SubmittersRCV000267210
NM_000046.5(ARSB):c.1078C>T (p.Leu360=)	SNV Germline	Chr5:78885648	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA3318126	rs_140923667	4 SubmittersRCV000293342 RCV000592849
NM_000046.5(ARSB):c.510G>C (p.Leu170=)	SNV Germline	Chr5:78964596	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications	CA3318239	rs_768312895	2 SubmittersRCV000392569
NM_000046.4(ARSB):c.-246C>T	SNV Germline	Chr5:78985494	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA10625098	rs_180784385	2 SubmittersRCV000299847 RCV001561230
NM_000046.4(ARSB):c.-265G>A	SNV Germline	Chr5:78985513	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA10625105	rs_72764913	2 SubmittersRCV000357214 RCV001672666
NM_000046.5(ARSB):c.82C>T (p.Leu28=)	SNV Germline	Chr5:78985167	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6 Condition: not provided ARSB-related disorder	Criteria Provided Conflicting Classifications	CA3318367	rs_138587718	5 SubmittersRCV000390711 RCV000675213 RCV003970035
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)	SNV Germline	Chr5:78781863	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts	CA16604916	rs_1057520739	6 SubmittersRCV000435336 RCV000632186
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)	SNV Germline	Chr5:78780550	Pathogenic	Condition: not provided Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts	CA16618212	rs_1064793027	4 SubmittersRCV000482506 RCV000677488
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)	SNV Germline	Chr5:78885766	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts	CA360343328	rs_762614315	5 SubmittersRCV000493516 RCV000677613
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn)	SNV Germline	Chr5:78885603	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications	CA3318117	rs_200040980	3 SubmittersRCV000512720 RCV001248198
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)	SNV Germline	Chr5:78969026	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts	CA360193893	rs_1196325597	5 SubmittersRCV000656130
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter)	SNV Germline	Chr5:78969027	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts	CA360193894	rs_1255777033	5 SubmittersRCV000656129
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg)	SNV Germline	Chr5:78984961	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6 not specified	Criteria Provided Conflicting Classifications	CA360196384	rs_1554032095	3 SubmittersRCV000656131 RCV001584227
NM_000046.5(ARSB):c.281C>T (p.Ser94Leu)	SNV Germline	Chr5:78984968	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter	CA360196421	rs_1554032099	1 SubmittersRCV000656125
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)	SNV Germline	Chr5:78985004	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts	CA360196597	rs_749465732	5 SubmittersRCV000656128
NM_000046.5(ARSB):c.152T>C (p.Leu51Pro)	SNV Germline	Chr5:78985097	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter	CA360196953	rs_1554032220	1 SubmittersRCV000656127
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)	SNV Germline	Chr5:78955440	Pathogenic	Condition: not provided Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts	CA360192218	rs_765711776	9 SubmittersRCV000579253 RCV000677594
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter)	SNV Germline	Chr5:78964535	Pathogenic	Condition: not provided Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts	CA121104145	rs_371886102	6 SubmittersRCV000579053 RCV000677577
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter)	SNV Germline	Chr7:65974349	Pathogenic	Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 7	Criteria Provided Multiple Submitters No Conflicts	CA367643462	rs_1434169374	2 SubmittersRCV000590006 RCV001206155
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)	SNV Germline	Chr5:78969051	Pathogenic	Mucopolysaccharidosis type 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA121107804	rs_991104525	8 SubmittersRCV000593204 RCV000723376
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp)	SNV Germline	Chr5:78885798	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_1402584432	3 SubmittersRCV000660544
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys)	SNV Germline	Chr5:78885790	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_759384989	5 SubmittersRCV000664057
NM_000046.5(ARSB):c.317G>A (p.Arg106His)	SNV Germline	Chr5:78969188	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_150087888	7 SubmittersRCV000675209 RCV000677545
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp)	SNV Germline	Chr5:78780398	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554069655	3 SubmittersRCV000677504
NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr)	SNV Germline	Chr5:78780437	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_1554069661	2 SubmittersRCV000677498
NM_000046.5(ARSB):c.1539C>G (p.Tyr513Ter)	SNV Germline	Chr5:78780460	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1251438062	2 SubmittersRCV000677497
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter)	SNV Germline	Chr5:78780492	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_771113472	4 SubmittersRCV000677494
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro)	SNV Germline	Chr5:78780506	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_774358117	2 SubmittersRCV000677492
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu)	SNV Germline	Chr5:78780557	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_906245021	2 SubmittersRCV000677487
NM_000046.5(ARSB):c.1415T>C (p.Leu472Pro)	SNV Germline	Chr5:78780584	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1211360114	1 SubmittersRCV000677486
NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter)	SNV Germline	Chr5:78780605	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1209412483	2 SubmittersRCV000677485
NM_000046.5(ARSB):c.1391C>A (p.Ser464Ter)	SNV Germline	Chr5:78780608	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_769996056	1 SubmittersRCV000677484
NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter)	SNV Germline	Chr5:78780633	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_200188234	3 SubmittersRCV000677483
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)	SNV Germline	Chr5:78780649	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_555785323	5 SubmittersRCV000677482 RCV000732121
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe)	SNV Germline	Chr5:78780659	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_1465993279	2 SubmittersRCV000677480
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser)	SNV Germline	Chr5:78780659	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_1465993279	2 SubmittersRCV000677479
NM_000046.5(ARSB):c.1336+2T>G	SNV Germline	Chr5:78781850	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6 Condition: not provided	Criteria Provided Conflicting Classifications		rs_768012515	5 SubmittersRCV000677476 RCV000998401
NM_000046.5(ARSB):c.1289A>G (p.His430Arg)	SNV Germline	Chr5:78781899	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1171277553	2 SubmittersRCV000677472
NM_000046.5(ARSB):c.1261G>T (p.Glu421Ter)	SNV Germline	Chr5:78781927	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1554069793	1 SubmittersRCV000677468
NM_000046.5(ARSB):c.1214-2A>G	SNV Germline	Chr5:78781976	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554069808	2 SubmittersRCV000677467
NM_000046.5(ARSB):c.1213+6T>C	SNV Germline	Chr5:78839350	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554074118	3 SubmittersRCV000677466
NM_000046.5(ARSB):c.1208C>G (p.Ser403Ter)	SNV Germline	Chr5:78839361	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_771296632	2 SubmittersRCV000677463
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu)	SNV Germline	Chr5:78839372	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_200793396	4 SubmittersRCV000677462
NM_000046.5(ARSB):c.1178A>G (p.His393Arg)	SNV Germline	Chr5:78839391	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_118203944	3 SubmittersRCV000677460
NM_000046.5(ARSB):c.1168G>A (p.Glu390Lys)	SNV Germline	Chr5:78839401	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554074132	2 SubmittersRCV000677459
NM_000046.5(ARSB):c.1142+2T>C	SNV Germline	Chr5:78885582	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_781510986	2 SubmittersRCV000677454
NM_000046.5(ARSB):c.1142+2T>A	SNV Germline	Chr5:78885582	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_781510986	2 SubmittersRCV000677453
NM_000046.5(ARSB):c.1142+1G>T	SNV Germline	Chr5:78885583	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_746396210	2 SubmittersRCV000677452
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter)	SNV Germline	Chr5:78885596	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554079265	2 SubmittersRCV000677451
NM_000046.5(ARSB):c.1127T>A (p.Val376Glu)	SNV Germline	Chr5:78885599	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1554079268	1 SubmittersRCV000677449
NM_000046.5(ARSB):c.1079T>C (p.Leu360Pro)	SNV Germline	Chr5:78885647	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1554079284	1 SubmittersRCV000677446
NM_000046.5(ARSB):c.1059G>A (p.Trp353Ter)	SNV Germline	Chr5:78885667	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1554079296	1 SubmittersRCV000677445
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe)	SNV Germline	Chr5:78885674	Likely pathogenic	Mucopolysaccharidosis type 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_756671977	4 SubmittersRCV000677443 RCV003128723
NM_000046.5(ARSB):c.1048A>T (p.Ile350Phe)	SNV Germline	Chr5:78885678	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_79970603	1 SubmittersRCV000677442
NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile)	SNV Germline	Chr5:78885725	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_1554079311	2 SubmittersRCV000677438
NM_000046.5(ARSB):c.995T>G (p.Val332Gly)	SNV Germline	Chr5:78885731	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1554079312	1 SubmittersRCV000677618
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)	SNV Germline	Chr5:78885747	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_773492223	6 SubmittersRCV000677617
NM_000046.5(ARSB):c.966G>A (p.Trp322Ter)	SNV Germline	Chr5:78885760	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554079318	2 SubmittersRCV000677615
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro)	SNV Germline	Chr5:78885764	Pathogenic	Mucopolysaccharidosis type 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554079320	6 SubmittersRCV000677614 RCV001796768
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro)	SNV Germline	Chr5:78885782	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_727503809	2 SubmittersRCV000677612
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)	SNV Germline	Chr5:78885783	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_891298440	4 SubmittersRCV000677611
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser)	SNV Germline	Chr5:78885789	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_749989641	3 SubmittersRCV000677610
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala)	SNV Germline	Chr5:78885789	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_749989641	4 SubmittersRCV000677609
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu)	SNV Germline	Chr5:78885803	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_1554079333	3 SubmittersRCV000677608
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)	SNV Germline	Chr5:78885818	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1408739927	3 SubmittersRCV000677606
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)	SNV Germline	Chr5:78885822	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_779378413	4 SubmittersRCV000677605
NM_000046.5(ARSB):c.903C>G (p.Asn301Lys)	SNV Germline	Chr5:78885823	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_147495977	1 SubmittersRCV000677604
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu)	SNV Germline	Chr5:78885826	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_1280123243	2 SubmittersRCV000677602
NM_000046.5(ARSB):c.887T>A (p.Ile296Asn)	SNV Germline	Chr5:78955306	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554086368	2 SubmittersRCV000677600
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser)	SNV Germline	Chr5:78955396	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554086402	3 SubmittersRCV000677597
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter)	SNV Germline	Chr5:78955428	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554086414	3 SubmittersRCV000677595
NM_000046.5(ARSB):c.691-1G>A	SNV Germline	Chr5:78955503	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_778868348	4 SubmittersRCV000677584
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)	SNV Germline	Chr5:78964439	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_367650121	5 SubmittersRCV000677583
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter)	SNV Germline	Chr5:78964517	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_773460207	4 SubmittersRCV000677579
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg)	SNV Germline	Chr5:78964532	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554087423	3 SubmittersRCV000677578
NM_000046.5(ARSB):c.533A>T (p.His178Leu)	SNV Germline	Chr5:78964573	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1554087439	1 SubmittersRCV000677576
NM_000046.5(ARSB):c.532C>G (p.His178Asp)	SNV Germline	Chr5:78964574	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1554087441	1 SubmittersRCV000677575
NM_000046.5(ARSB):c.511G>A (p.Gly171Ser)	SNV Germline	Chr5:78964595	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1554087445	1 SubmittersRCV000677573
NM_000046.5(ARSB):c.509T>G (p.Leu170Arg)	SNV Germline	Chr5:78964597	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1484763838	1 SubmittersRCV000677572
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg)	SNV Germline	Chr5:78969006	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_1554087999	2 SubmittersRCV000677571
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)	SNV Germline	Chr5:78969067	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_757061042	4 SubmittersRCV000677566
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)	SNV Germline	Chr5:78969075	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_746206847	5 SubmittersRCV000677562
NM_000046.5(ARSB):c.395T>C (p.Leu132Pro)	SNV Germline	Chr5:78969110	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1554088079	1 SubmittersRCV000677556
NM_000046.5(ARSB):c.328C>T (p.Gln110Ter)	SNV Germline	Chr5:78969177	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554088099	2 SubmittersRCV000677547
NM_000046.5(ARSB):c.323G>T (p.Gly108Val)	SNV Germline	Chr5:78969182	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_768802200	3 SubmittersRCV000677546
NM_000046.5(ARSB):c.312G>C (p.Gln104His)	SNV Germline	Chr5:78984937	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_1478202079	2 SubmittersRCV000677544
NM_000046.5(ARSB):c.305G>A (p.Arg102His)	SNV Germline	Chr5:78984944	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6 not specified	Criteria Provided Conflicting Classifications		rs_759356342	4 SubmittersRCV000677542 RCV001779055
NM_000046.5(ARSB):c.293T>G (p.Leu98Arg)	SNV Germline	Chr5:78984956	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1554032090	1 SubmittersRCV000677541
NM_000046.5(ARSB):c.293T>A (p.Leu98Gln)	SNV Germline	Chr5:78984956	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1554032090	1 SubmittersRCV000677539
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter)	SNV Germline	Chr5:78984960	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554032094	2 SubmittersRCV000677538
NM_000046.5(ARSB):c.275C>T (p.Thr92Met)	SNV Germline	Chr5:78984974	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_751010538	2 SubmittersRCV000677535
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys)	SNV Germline	Chr5:78984974	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6 ARSB-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_751010538	4 SubmittersRCV000677534 RCV003392515
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter)	SNV Germline	Chr5:78984987	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1299207831	4 SubmittersRCV000677528
NM_000046.5(ARSB):c.253T>C (p.Tyr85His)	SNV Germline	Chr5:78984996	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1554032129	1 SubmittersRCV000677526
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)	SNV Germline	Chr5:78985002	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6 not specified	Criteria Provided Conflicting Classifications		rs_1247117898	4 SubmittersRCV000677525 RCV002298733
NM_000046.5(ARSB):c.246G>A (p.Leu82=)	SNV Germline	Chr5:78985003	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_1035210606	2 SubmittersRCV000677523
NM_000046.5(ARSB):c.236G>A (p.Gly79Glu)	SNV Germline	Chr5:78985013	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_1271212818	2 SubmittersRCV000677519
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)	SNV Germline	Chr5:78985034	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_397514441	7 SubmittersRCV000677516
NM_000046.5(ARSB):c.215T>C (p.Leu72Pro)	SNV Germline	Chr5:78985034	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_397514441	2 SubmittersRCV000677515
NM_000046.5(ARSB):c.206C>T (p.Thr69Met)	SNV Germline	Chr5:78985043	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_1554032175	2 SubmittersRCV000677511
NM_000046.5(ARSB):c.176A>T (p.Asp59Val)	SNV Germline	Chr5:78985073	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1179935748	1 SubmittersRCV000677509
NM_000046.5(ARSB):c.171G>C (p.Trp57Cys)	SNV Germline	Chr5:78985078	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_1554032205	2 SubmittersRCV000677507
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn)	SNV Germline	Chr5:78985089	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554032216	2 SubmittersRCV000677505
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)	SNV Germline	Chr5:78985092	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554032217	3 SubmittersRCV000677500
NM_000046.5(ARSB):c.149T>A (p.Leu50Ter)	SNV Germline	Chr5:78985100	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1554032222	1 SubmittersRCV000677493
NM_000046.5(ARSB):c.281C>A (p.Ser94Ter)	SNV Germline	Chr5:78984968	Likely pathogenic	Mucopolysaccharidosis type 6	No Assertion Criteria Provided		rs_1554032099	1 SubmittersRCV000758257
NM_000046.5(ARSB):c.982G>C (p.Gly328Arg)	SNV Unknown	Chr5:78885744	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_748454316	1 SubmittersRCV000791186
NM_000046.5(ARSB):c.823G>T (p.Glu275Ter)	SNV Germline	Chr5:78955370	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1580121683	2 SubmittersRCV000798762
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)	SNV Germline	Chr5:78969050	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_776814144	3 SubmittersRCV000985065
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)	SNV Germline	Chr5:78885812	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6 Condition: not provided	Criteria Provided Conflicting Classifications		rs_199931771	3 SubmittersRCV001033964 RCV001759926
NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser)	SNV Germline	Chr5:78780398	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1554069655	1 SubmittersRCV001059056
NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter)	SNV Germline	Chr5:78885690	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1747989303	1 SubmittersRCV001069095
NM_000046.5(ARSB):c.1214-2A>T	SNV Germline	Chr5:78781976	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554069808	2 SubmittersRCV001068376
NM_000046.5(ARSB):c.*2408A>G	SNV Germline	Chr5:78777989	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6 Condition: not provided	Criteria Provided Conflicting Classifications		rs_13354324	2 SubmittersRCV001152160 RCV003438685
NM_000046.5(ARSB):c.*1635G>A	SNV Germline	Chr5:78778762	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6 Condition: not provided	Criteria Provided Conflicting Classifications		rs_35597782	2 SubmittersRCV001156030 RCV003438686
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)	SNV Germline	Chr5:78781964	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_762454192	3 SubmittersRCV001152367
NM_000046.5(ARSB):c.1214-15A>T	SNV Germline	Chr5:78781989	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_1353542088	2 SubmittersRCV001152368
NM_000046.5(ARSB):c.310C>T (p.Gln104Ter)	SNV Germline	Chr5:78984939	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1753093650	1 SubmittersRCV001225196
NM_000046.5(ARSB):c.264G>T (p.Gln88His)	SNV Germline	Chr5:78984985	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_750947605	1 SubmittersRCV001251147
NM_000046.5(ARSB):c.441C>G (p.His147Gln)	SNV Germline	Chr5:78969064	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1752333074	1 SubmittersRCV001378854
NM_000046.5(ARSB):c.1419G>A (p.Trp473Ter)	SNV Germline	Chr5:78780580	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1234650208	1 SubmittersRCV001384061
NM_000046.5(ARSB):c.170G>A (p.Trp57Ter)	SNV Germline	Chr5:78985079	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_200712296	1 SubmittersRCV001383634
NM_000046.5(ARSB):c.1122C>T (p.Phe374=)	SNV Germline	Chr5:78885604	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6	Criteria Provided Conflicting Classifications		rs_149886659	2 SubmittersRCV001449280
NM_000046.5(ARSB):c.658A>G (p.Ile220Val)	SNV Germline	Chr5:78964448	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_202130413	3 SubmittersRCV001433636 RCV002555180
NM_000046.5(ARSB):c.898+1G>A	SNV Germline	Chr5:78955294	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1751669303	3 SubmittersRCV001578807
NM_000046.5(ARSB):c.409G>A (p.Gly137Ser)	SNV Germline	Chr5:78969096	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_2112530008	1 SubmittersRCV001580626
NM_000046.5(ARSB):c.1381G>T (p.Glu461Ter)	SNV Germline	Chr5:78780618	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_2112617391	1 SubmittersRCV001785967
NM_000046.5(ARSB):c.1208C>A (p.Ser403Ter)	SNV Germline	Chr5:78839361	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_771296632	1 SubmittersRCV001785968
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter)	SNV Germline	Chr5:78969160	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_2112530498	2 SubmittersRCV001780642
NM_000046.5(ARSB):c.1142+1G>A	SNV Germline	Chr5:78885583	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_746396210	1 SubmittersRCV001924884
NM_000046.5(ARSB):c.284G>T (p.Arg95Leu)	SNV Germline	Chr5:78984965	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_118203942	1 SubmittersRCV001959298
NM_000046.5(ARSB):c.628T>C (p.Tyr210His)	SNV Germline	Chr5:78964478	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_769313336	1 SubmittersRCV001961748
NM_000046.5(ARSB):c.1336+1G>A	SNV Germline	Chr5:78781851	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts		rs_376233975	2 SubmittersRCV001890300
NM_000046.5(ARSB):c.283C>T (p.Arg95Trp)	SNV Germline	Chr5:78984966	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1201268402	1 SubmittersRCV002011567
NM_000046.5(ARSB):c.1336+2T>C	SNV Germline	Chr5:78781850	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_768012515	1 SubmittersRCV001960694
NM_000046.5(ARSB):c.430G>C (p.Gly144Arg)	SNV Germline	Chr5:78969075	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_746206847	1 SubmittersRCV002049398
NM_000046.5(ARSB):c.161A>C (p.Asp54Ala)	SNV Germline	Chr5:78985088	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_1378501017	1 SubmittersRCV002002643
NM_000046.5(ARSB):c.158A>G (p.Asp53Gly)	SNV Germline	Chr5:78985091	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_2112582627	1 SubmittersRCV002041200
NM_000046.5(ARSB):c.959G>T (p.Ser320Ile)	SNV Germline	Chr5:78885767	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter		rs_2112211996	1 SubmittersRCV002249273
NM_000046.5(ARSB):c.289C>A (p.Gln97Lys)	SNV Germline	Chr5:78984960	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV002291069
NM_000046.5(ARSB):c.166G>C (p.Gly56Arg)	SNV Germline	Chr5:78985083	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV002305033
NM_000046.5(ARSB):c.1539C>A (p.Tyr513Ter)	SNV Germline	Chr5:78780460	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003078759
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)	SNV Germline	Chr5:78985004	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003093182
NM_000046.5(ARSB):c.1451G>C (p.Arg484Thr)	SNV Germline	Chr5:78780548	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV002584861
NM_000046.5(ARSB):c.797A>G (p.Tyr266Cys)	SNV Germline	Chr5:78955396	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV002595844
NM_000046.5(ARSB):c.1325C>G (p.Thr442Arg)	SNV Germline	Chr5:78781863	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV002664369
NM_000046.5(ARSB):c.499+2T>A	SNV Germline	Chr5:78969004	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV002696153
NM_000046.5(ARSB):c.1418G>A (p.Trp473Ter)	SNV Germline	Chr5:78780581	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV002800495
NM_000046.5(ARSB):c.376G>T (p.Glu126Ter)	SNV Germline	Chr5:78969129	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV002829759
NM_000046.5(ARSB):c.1458C>A (p.Asp486Glu)	SNV Germline	Chr5:78780541	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV002871322
NM_000046.5(ARSB):c.745G>T (p.Glu249Ter)	SNV Germline	Chr5:78955448	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV002866964
NM_000046.5(ARSB):c.255C>G (p.Tyr85Ter)	SNV Germline	Chr5:78984994	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV002962050
NM_000046.5(ARSB):c.956G>A (p.Trp319Ter)	SNV Germline	Chr5:78885770	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003005582
NM_000046.5(ARSB):c.244C>G (p.Leu82Val)	SNV Germline	Chr5:78985005	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003018769
NM_000046.5(ARSB):c.1143-1G>T	SNV Germline	Chr5:78839427	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003040943
NM_000046.5(ARSB):c.312+2T>G	SNV Germline	Chr5:78984935	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003230896
NM_000046.5(ARSB):c.905G>A (p.Gly302Glu)	SNV Germline	Chr5:78885821	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003327325
NM_000046.5(ARSB):c.1143-1G>A	SNV Unknown	Chr5:78839427	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003471837
NM_000046.5(ARSB):c.1337-1G>C	SNV Unknown	Chr5:78780663	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003471866
NM_000046.5(ARSB):c.898+1G>T	SNV Unknown	Chr5:78955294	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003466268
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)	SNV Germline	Chr5:78781874	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003466324
NM_000046.5(ARSB):c.690+2T>C	SNV Unknown	Chr5:78964414	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003466360
NM_000046.5(ARSB):c.982G>A (p.Gly328Arg)	SNV Unknown	Chr5:78885744	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003466380
NM_000046.5(ARSB):c.1142+581A>G	SNV Germline	Chr5:78885003	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003484214
NM_000046.5(ARSB):c.304C>A (p.Arg102Ser)	SNV Germline	Chr5:78984945	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003495428
NM_000046.5(ARSB):c.690+2T>G	SNV Germline	Chr5:78964414	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003495352
NM_000046.5(ARSB):c.478C>G (p.Arg160Gly)	SNV Germline	Chr5:78969027	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003495040
NM_000046.5(ARSB):c.350G>A (p.Cys117Tyr)	SNV Germline	Chr5:78969155	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003495033
NM_000046.5(ARSB):c.551T>C (p.Ile184Thr)	SNV Germline	Chr5:78964555	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003600774
NM_000046.5(ARSB):c.166G>A (p.Gly56Ser)	SNV Germline	Chr5:78985083	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003600834
NM_000046.5(ARSB):c.31C>T (p.Arg11Ter)	SNV Germline	Chr5:78985218	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003601469
NM_000046.5(ARSB):c.962T>A (p.Leu321Gln)	SNV Germline	Chr5:78885764	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003601462
NM_000046.5(ARSB):c.715C>T (p.Gln239Ter)	SNV Germline	Chr5:78955478	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003601697
NM_000046.5(ARSB):c.534T>G (p.His178Gln)	SNV Germline	Chr5:78964572	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003826948
NM_000046.5(ARSB):c.323G>A (p.Gly108Asp)	SNV Germline	Chr5:78969182	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003865872
NM_000046.5(ARSB):c.403G>T (p.Glu135Ter)	SNV Germline	Chr5:78969102	Pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003871008
NM_000046.5(ARSB):c.1214-1G>A	SNV Germline	Chr5:78781975	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003880251
NM_000046.5(ARSB):c.269T>C (p.Leu90Pro)	SNV Germline	Chr5:78984980	Likely pathogenic	Mucopolysaccharidosis type 6	Criteria Provided Single Submitter			1 SubmittersRCV003991753

NM_000046.5(ARSB):c.349T>C (p.Cys117Arg)

SNV
Germline

Chr5:78969156

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, type vi, severe
Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA114601

rs_118203939

4 SubmittersRCV000000926 RCV000677550

NM_000046.5(ARSB):c.707T>C (p.Leu236Pro)

SNV
Germline

Chr5:78955486

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, type vi, mild
Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

CA114602

rs_118203940

3 SubmittersRCV000000927 RCV000677586

NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)

SNV
Germline

Chr5:78781974

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, type vi, severe
Mucopolysaccharidosis type 6
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114603

rs_118203941

7 SubmittersRCV000000928 RCV000179701 RCV000779751 RCV000723435

NM_000046.5(ARSB):c.215T>A (p.Leu72Gln)

SNV
Germline

Chr5:78985034

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis type 6
not specified

Criteria Provided
Conflicting Classifications

CA114606

rs_397514441

3 SubmittersRCV000224599 RCV000677514 RCV000779750

NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)

SNV
Germline

Chr5:78984965

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114608

rs_118203942

4 SubmittersRCV000000932 RCV000078002

NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)

SNV
Germline

Chr5:78964477

Pathogenic

Mucopolysaccharidosis type 6
Condition: not provided
Metachromatic leukodystrophy
ARSB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA114609

rs_118203943

16 SubmittersRCV000000933 RCV000078003 RCV000779747 RCV003904792

NM_000046.5(ARSB):c.1178A>C (p.His393Pro)

SNV
Germline

Chr5:78839391

Pathogenic

Mucopolysaccharidosis type 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114610

rs_118203944

7 SubmittersRCV000000934 RCV000424623

NM_000046.5(ARSB):c.1143-1G>C

SNV
Germline

Chr5:78839427

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA114611

rs_431905495

8 SubmittersRCV000000935

NM_000046.5(ARSB):c.1143-8T>G

SNV
Germline

Chr5:78839434

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA114612

rs_431905496

4 SubmittersRCV000000936

NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)

SNV
Germline

Chr7:65979782

Pathogenic

Mucopolysaccharidosis type 7
Mucopolysaccharidosis type 6
Condition: not provided
GUSB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220466

rs_121918181

10 SubmittersRCV000000953 RCV000586449 RCV000790722 RCV003914794

NM_000046.5(ARSB):c.934T>C (p.Trp312Arg)

SNV
Germline

Chr5:78885792

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

CA220286

rs_398123124

2 SubmittersRCV000078004 RCV002514369

NM_000046.5(ARSB):c.971G>T (p.Gly324Val)

SNV
Germline

Chr5:78885755

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis type 6
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA220288

rs_398123125

6 SubmittersRCV000078005 RCV000677616 RCV001266364

NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)

SNV
Germline

Chr5:78885782

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis type 6
ARSB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA233482

rs_727503809

9 SubmittersRCV000152796 RCV000664046 RCV003415996

NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly)

SNV
Germline

Chr5:78780549

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA199152

rs_201101343

4 SubmittersRCV000169649

NM_000046.5(ARSB):c.290A>G (p.Gln97Arg)

SNV
Germline

Chr5:78984959

Likely pathogenic

Mucopolysaccharidosis type 6

No Assertion Criteria Provided

CA10588994

rs_886039914

1 SubmittersRCV000256474

NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser)

SNV
Germline

Chr5:78780626

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
not specified

Criteria Provided
Conflicting Classifications

CA3317993

rs_144222167

4 SubmittersRCV000302376 RCV000401780

NM_000046.5(ARSB):c.185T>A (p.Phe62Tyr)

SNV
Germline

Chr5:78985064

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis type 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3318344

rs_779228581

3 SubmittersRCV000358815 RCV002519221 RCV003165746

NM_000046.5(ARSB):c.1197C>T (p.Phe399=)

SNV
Germline

Chr5:78839372

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

CA3318086

rs_200793396

2 SubmittersRCV000307105 RCV001082650

NM_000046.5(ARSB):c.1533C>T (p.Pro511=)

SNV
Germline

Chr5:78780466

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
ARSB-related disorder

Criteria Provided
Conflicting Classifications

CA3317966

rs_528157833

3 SubmittersRCV000404292 RCV003922560

NM_000046.5(ARSB):c.1337-3T>A

SNV
Germline

Chr5:78780665

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

CA3318000

rs_183651028

3 SubmittersRCV000267210

NM_000046.5(ARSB):c.1078C>T (p.Leu360=)

SNV
Germline

Chr5:78885648

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3318126

rs_140923667

4 SubmittersRCV000293342 RCV000592849

NM_000046.5(ARSB):c.510G>C (p.Leu170=)

SNV
Germline

Chr5:78964596

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

CA3318239

rs_768312895

2 SubmittersRCV000392569

NM_000046.4(ARSB):c.-246C>T

SNV
Germline

Chr5:78985494

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10625098

rs_180784385

2 SubmittersRCV000299847 RCV001561230

NM_000046.4(ARSB):c.-265G>A

SNV
Germline

Chr5:78985513

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10625105

rs_72764913

2 SubmittersRCV000357214 RCV001672666

NM_000046.5(ARSB):c.82C>T (p.Leu28=)

SNV
Germline

Chr5:78985167

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
Condition: not provided
ARSB-related disorder

Criteria Provided
Conflicting Classifications

CA3318367

rs_138587718

5 SubmittersRCV000390711 RCV000675213 RCV003970035

NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)

SNV
Germline

Chr5:78781863

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16604916

rs_1057520739

6 SubmittersRCV000435336 RCV000632186

NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)

SNV
Germline

Chr5:78780550

Pathogenic

Condition: not provided
Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16618212

rs_1064793027

4 SubmittersRCV000482506 RCV000677488

NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)

SNV
Germline

Chr5:78885766

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA360343328

rs_762614315

5 SubmittersRCV000493516 RCV000677613

NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn)

SNV
Germline

Chr5:78885603

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

CA3318117

rs_200040980

3 SubmittersRCV000512720 RCV001248198

NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)

SNV
Germline

Chr5:78969026

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA360193893

rs_1196325597

5 SubmittersRCV000656130

NM_000046.5(ARSB):c.478C>T (p.Arg160Ter)

SNV
Germline

Chr5:78969027

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA360193894

rs_1255777033

5 SubmittersRCV000656129

NM_000046.5(ARSB):c.288C>G (p.Ser96Arg)

SNV
Germline

Chr5:78984961

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
not specified

Criteria Provided
Conflicting Classifications

CA360196384

rs_1554032095

3 SubmittersRCV000656131 RCV001584227

NM_000046.5(ARSB):c.281C>T (p.Ser94Leu)

SNV
Germline

Chr5:78984968

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

CA360196421

rs_1554032099

1 SubmittersRCV000656125

NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)

SNV
Germline

Chr5:78985004

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA360196597

rs_749465732

5 SubmittersRCV000656128

NM_000046.5(ARSB):c.152T>C (p.Leu51Pro)

SNV
Germline

Chr5:78985097

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

CA360196953

rs_1554032220

1 SubmittersRCV000656127

NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)

SNV
Germline

Chr5:78955440

Pathogenic

Condition: not provided
Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA360192218

rs_765711776

9 SubmittersRCV000579253 RCV000677594

NM_000046.5(ARSB):c.571C>T (p.Arg191Ter)

SNV
Germline

Chr5:78964535

Pathogenic

Condition: not provided
Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA121104145

rs_371886102

6 SubmittersRCV000579053 RCV000677577

NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter)

SNV
Germline

Chr7:65974349

Pathogenic

Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7

Criteria Provided
Multiple Submitters
No Conflicts

CA367643462

rs_1434169374

2 SubmittersRCV000590006 RCV001206155

NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)

SNV
Germline

Chr5:78969051

Pathogenic

Mucopolysaccharidosis type 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA121107804

rs_991104525

8 SubmittersRCV000593204 RCV000723376

NM_000046.5(ARSB):c.928A>G (p.Asn310Asp)

SNV
Germline

Chr5:78885798

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_1402584432

3 SubmittersRCV000660544

NM_000046.5(ARSB):c.936G>T (p.Trp312Cys)

SNV
Germline

Chr5:78885790

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_759384989

5 SubmittersRCV000664057

NM_000046.5(ARSB):c.317G>A (p.Arg106His)

SNV
Germline

Chr5:78969188

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_150087888

7 SubmittersRCV000675209 RCV000677545

NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp)

SNV
Germline

Chr5:78780398

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554069655

3 SubmittersRCV000677504

NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr)

SNV
Germline

Chr5:78780437

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_1554069661

2 SubmittersRCV000677498

NM_000046.5(ARSB):c.1539C>G (p.Tyr513Ter)

SNV
Germline

Chr5:78780460

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1251438062

2 SubmittersRCV000677497

NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter)

SNV
Germline

Chr5:78780492

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_771113472

4 SubmittersRCV000677494

NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro)

SNV
Germline

Chr5:78780506

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_774358117

2 SubmittersRCV000677492

NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu)

SNV
Germline

Chr5:78780557

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_906245021

2 SubmittersRCV000677487

NM_000046.5(ARSB):c.1415T>C (p.Leu472Pro)

SNV
Germline

Chr5:78780584

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1211360114

1 SubmittersRCV000677486

NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter)

SNV
Germline

Chr5:78780605

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1209412483

2 SubmittersRCV000677485

NM_000046.5(ARSB):c.1391C>A (p.Ser464Ter)

SNV
Germline

Chr5:78780608

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_769996056

1 SubmittersRCV000677484

NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter)

SNV
Germline

Chr5:78780633

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_200188234

3 SubmittersRCV000677483

NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)

SNV
Germline

Chr5:78780649

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_555785323

5 SubmittersRCV000677482 RCV000732121

NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe)

SNV
Germline

Chr5:78780659

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_1465993279

2 SubmittersRCV000677480

NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser)

SNV
Germline

Chr5:78780659

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_1465993279

2 SubmittersRCV000677479

NM_000046.5(ARSB):c.1336+2T>G

SNV
Germline

Chr5:78781850

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_768012515

5 SubmittersRCV000677476 RCV000998401

NM_000046.5(ARSB):c.1289A>G (p.His430Arg)

SNV
Germline

Chr5:78781899

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1171277553

2 SubmittersRCV000677472

NM_000046.5(ARSB):c.1261G>T (p.Glu421Ter)

SNV
Germline

Chr5:78781927

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1554069793

1 SubmittersRCV000677468

NM_000046.5(ARSB):c.1214-2A>G

SNV
Germline

Chr5:78781976

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554069808

2 SubmittersRCV000677467

NM_000046.5(ARSB):c.1213+6T>C

SNV
Germline

Chr5:78839350

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554074118

3 SubmittersRCV000677466

NM_000046.5(ARSB):c.1208C>G (p.Ser403Ter)

SNV
Germline

Chr5:78839361

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_771296632

2 SubmittersRCV000677463

NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu)

SNV
Germline

Chr5:78839372

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_200793396

4 SubmittersRCV000677462

NM_000046.5(ARSB):c.1178A>G (p.His393Arg)

SNV
Germline

Chr5:78839391

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_118203944

3 SubmittersRCV000677460

NM_000046.5(ARSB):c.1168G>A (p.Glu390Lys)

SNV
Germline

Chr5:78839401

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554074132

2 SubmittersRCV000677459

NM_000046.5(ARSB):c.1142+2T>C

SNV
Germline

Chr5:78885582

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_781510986

2 SubmittersRCV000677454

NM_000046.5(ARSB):c.1142+2T>A

SNV
Germline

Chr5:78885582

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_781510986

2 SubmittersRCV000677453

NM_000046.5(ARSB):c.1142+1G>T

SNV
Germline

Chr5:78885583

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_746396210

2 SubmittersRCV000677452

NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter)

SNV
Germline

Chr5:78885596

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554079265

2 SubmittersRCV000677451

NM_000046.5(ARSB):c.1127T>A (p.Val376Glu)

SNV
Germline

Chr5:78885599

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1554079268

1 SubmittersRCV000677449

NM_000046.5(ARSB):c.1079T>C (p.Leu360Pro)

SNV
Germline

Chr5:78885647

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1554079284

1 SubmittersRCV000677446

NM_000046.5(ARSB):c.1059G>A (p.Trp353Ter)

SNV
Germline

Chr5:78885667

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1554079296

1 SubmittersRCV000677445

NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe)

SNV
Germline

Chr5:78885674

Likely pathogenic

Mucopolysaccharidosis type 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_756671977

4 SubmittersRCV000677443 RCV003128723

NM_000046.5(ARSB):c.1048A>T (p.Ile350Phe)

SNV
Germline

Chr5:78885678

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_79970603

1 SubmittersRCV000677442

NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile)

SNV
Germline

Chr5:78885725

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_1554079311

2 SubmittersRCV000677438

NM_000046.5(ARSB):c.995T>G (p.Val332Gly)

SNV
Germline

Chr5:78885731

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1554079312

1 SubmittersRCV000677618

NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)

SNV
Germline

Chr5:78885747

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_773492223

6 SubmittersRCV000677617

NM_000046.5(ARSB):c.966G>A (p.Trp322Ter)

SNV
Germline

Chr5:78885760

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554079318

2 SubmittersRCV000677615

NM_000046.5(ARSB):c.962T>C (p.Leu321Pro)

SNV
Germline

Chr5:78885764

Pathogenic

Mucopolysaccharidosis type 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554079320

6 SubmittersRCV000677614 RCV001796768

NM_000046.5(ARSB):c.944G>C (p.Arg315Pro)

SNV
Germline

Chr5:78885782

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_727503809

2 SubmittersRCV000677612

NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)

SNV
Germline

Chr5:78885783

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_891298440

4 SubmittersRCV000677611

NM_000046.5(ARSB):c.937C>T (p.Pro313Ser)

SNV
Germline

Chr5:78885789

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_749989641

3 SubmittersRCV000677610

NM_000046.5(ARSB):c.937C>G (p.Pro313Ala)

SNV
Germline

Chr5:78885789

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_749989641

4 SubmittersRCV000677609

NM_000046.5(ARSB):c.923G>A (p.Gly308Glu)

SNV
Germline

Chr5:78885803

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_1554079333

3 SubmittersRCV000677608

NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)

SNV
Germline

Chr5:78885818

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1408739927

3 SubmittersRCV000677606

NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)

SNV
Germline

Chr5:78885822

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_779378413

4 SubmittersRCV000677605

NM_000046.5(ARSB):c.903C>G (p.Asn301Lys)

SNV
Germline

Chr5:78885823

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_147495977

1 SubmittersRCV000677604

NM_000046.5(ARSB):c.900T>A (p.Asp300Glu)

SNV
Germline

Chr5:78885826

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_1280123243

2 SubmittersRCV000677602

NM_000046.5(ARSB):c.887T>A (p.Ile296Asn)

SNV
Germline

Chr5:78955306

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554086368

2 SubmittersRCV000677600

NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser)

SNV
Germline

Chr5:78955396

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554086402

3 SubmittersRCV000677597

NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter)

SNV
Germline

Chr5:78955428

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554086414

3 SubmittersRCV000677595

NM_000046.5(ARSB):c.691-1G>A

SNV
Germline

Chr5:78955503

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_778868348

4 SubmittersRCV000677584

NM_000046.5(ARSB):c.667A>G (p.Ile223Val)

SNV
Germline

Chr5:78964439

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_367650121

5 SubmittersRCV000677583

NM_000046.5(ARSB):c.589C>T (p.Arg197Ter)

SNV
Germline

Chr5:78964517

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_773460207

4 SubmittersRCV000677579

NM_000046.5(ARSB):c.574T>C (p.Cys192Arg)

SNV
Germline

Chr5:78964532

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554087423

3 SubmittersRCV000677578

NM_000046.5(ARSB):c.533A>T (p.His178Leu)

SNV
Germline

Chr5:78964573

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1554087439

1 SubmittersRCV000677576

NM_000046.5(ARSB):c.532C>G (p.His178Asp)

SNV
Germline

Chr5:78964574

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1554087441

1 SubmittersRCV000677575

NM_000046.5(ARSB):c.511G>A (p.Gly171Ser)

SNV
Germline

Chr5:78964595

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1554087445

1 SubmittersRCV000677573

NM_000046.5(ARSB):c.509T>G (p.Leu170Arg)

SNV
Germline

Chr5:78964597

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1484763838

1 SubmittersRCV000677572

NM_000046.5(ARSB):c.499G>A (p.Gly167Arg)

SNV
Germline

Chr5:78969006

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_1554087999

2 SubmittersRCV000677571

NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)

SNV
Germline

Chr5:78969067

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_757061042

4 SubmittersRCV000677566

NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)

SNV
Germline

Chr5:78969075

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_746206847

5 SubmittersRCV000677562

NM_000046.5(ARSB):c.395T>C (p.Leu132Pro)

SNV
Germline

Chr5:78969110

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1554088079

1 SubmittersRCV000677556

NM_000046.5(ARSB):c.328C>T (p.Gln110Ter)

SNV
Germline

Chr5:78969177

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554088099

2 SubmittersRCV000677547

NM_000046.5(ARSB):c.323G>T (p.Gly108Val)

SNV
Germline

Chr5:78969182

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_768802200

3 SubmittersRCV000677546

NM_000046.5(ARSB):c.312G>C (p.Gln104His)

SNV
Germline

Chr5:78984937

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_1478202079

2 SubmittersRCV000677544

NM_000046.5(ARSB):c.305G>A (p.Arg102His)

SNV
Germline

Chr5:78984944

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
not specified

Criteria Provided
Conflicting Classifications

rs_759356342

4 SubmittersRCV000677542 RCV001779055

NM_000046.5(ARSB):c.293T>G (p.Leu98Arg)

SNV
Germline

Chr5:78984956

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1554032090

1 SubmittersRCV000677541

NM_000046.5(ARSB):c.293T>A (p.Leu98Gln)

SNV
Germline

Chr5:78984956

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1554032090

1 SubmittersRCV000677539

NM_000046.5(ARSB):c.289C>T (p.Gln97Ter)

SNV
Germline

Chr5:78984960

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554032094

2 SubmittersRCV000677538

NM_000046.5(ARSB):c.275C>T (p.Thr92Met)

SNV
Germline

Chr5:78984974

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_751010538

2 SubmittersRCV000677535

NM_000046.5(ARSB):c.275C>A (p.Thr92Lys)

SNV
Germline

Chr5:78984974

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6
ARSB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_751010538

4 SubmittersRCV000677534 RCV003392515

NM_000046.5(ARSB):c.262C>T (p.Gln88Ter)

SNV
Germline

Chr5:78984987

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1299207831

4 SubmittersRCV000677528

NM_000046.5(ARSB):c.253T>C (p.Tyr85His)

SNV
Germline

Chr5:78984996

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1554032129

1 SubmittersRCV000677526

NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)

SNV
Germline

Chr5:78985002

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
not specified

Criteria Provided
Conflicting Classifications

rs_1247117898

4 SubmittersRCV000677525 RCV002298733

NM_000046.5(ARSB):c.246G>A (p.Leu82=)

SNV
Germline

Chr5:78985003

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_1035210606

2 SubmittersRCV000677523

NM_000046.5(ARSB):c.236G>A (p.Gly79Glu)

SNV
Germline

Chr5:78985013

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_1271212818

2 SubmittersRCV000677519

NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)

SNV
Germline

Chr5:78985034

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_397514441

7 SubmittersRCV000677516

NM_000046.5(ARSB):c.215T>C (p.Leu72Pro)

SNV
Germline

Chr5:78985034

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_397514441

2 SubmittersRCV000677515

NM_000046.5(ARSB):c.206C>T (p.Thr69Met)

SNV
Germline

Chr5:78985043

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_1554032175

2 SubmittersRCV000677511

NM_000046.5(ARSB):c.176A>T (p.Asp59Val)

SNV
Germline

Chr5:78985073

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1179935748

1 SubmittersRCV000677509

NM_000046.5(ARSB):c.171G>C (p.Trp57Cys)

SNV
Germline

Chr5:78985078

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_1554032205

2 SubmittersRCV000677507

NM_000046.5(ARSB):c.160G>A (p.Asp54Asn)

SNV
Germline

Chr5:78985089

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554032216

2 SubmittersRCV000677505

NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)

SNV
Germline

Chr5:78985092

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554032217

3 SubmittersRCV000677500

NM_000046.5(ARSB):c.149T>A (p.Leu50Ter)

SNV
Germline

Chr5:78985100

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1554032222

1 SubmittersRCV000677493

NM_000046.5(ARSB):c.281C>A (p.Ser94Ter)

SNV
Germline

Chr5:78984968

Likely pathogenic

Mucopolysaccharidosis type 6

No Assertion Criteria Provided

rs_1554032099

1 SubmittersRCV000758257

NM_000046.5(ARSB):c.982G>C (p.Gly328Arg)

SNV
Unknown

Chr5:78885744

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_748454316

1 SubmittersRCV000791186

NM_000046.5(ARSB):c.823G>T (p.Glu275Ter)

SNV
Germline

Chr5:78955370

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1580121683

2 SubmittersRCV000798762

NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)

SNV
Germline

Chr5:78969050

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_776814144

3 SubmittersRCV000985065

NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)

SNV
Germline

Chr5:78885812

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199931771

3 SubmittersRCV001033964 RCV001759926

NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser)

SNV
Germline

Chr5:78780398

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1554069655

1 SubmittersRCV001059056

NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter)

SNV
Germline

Chr5:78885690

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1747989303

1 SubmittersRCV001069095

NM_000046.5(ARSB):c.1214-2A>T

SNV
Germline

Chr5:78781976

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554069808

2 SubmittersRCV001068376

NM_000046.5(ARSB):c.*2408A>G

SNV
Germline

Chr5:78777989

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_13354324

2 SubmittersRCV001152160 RCV003438685

NM_000046.5(ARSB):c.*1635G>A

SNV
Germline

Chr5:78778762

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_35597782

2 SubmittersRCV001156030 RCV003438686

NM_000046.5(ARSB):c.1224C>T (p.Asn408=)

SNV
Germline

Chr5:78781964

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_762454192

3 SubmittersRCV001152367

NM_000046.5(ARSB):c.1214-15A>T

SNV
Germline

Chr5:78781989

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_1353542088

2 SubmittersRCV001152368

NM_000046.5(ARSB):c.310C>T (p.Gln104Ter)

SNV
Germline

Chr5:78984939

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1753093650

1 SubmittersRCV001225196

NM_000046.5(ARSB):c.264G>T (p.Gln88His)

SNV
Germline

Chr5:78984985

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_750947605

1 SubmittersRCV001251147

NM_000046.5(ARSB):c.441C>G (p.His147Gln)

SNV
Germline

Chr5:78969064

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1752333074

1 SubmittersRCV001378854

NM_000046.5(ARSB):c.1419G>A (p.Trp473Ter)

SNV
Germline

Chr5:78780580

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1234650208

1 SubmittersRCV001384061

NM_000046.5(ARSB):c.170G>A (p.Trp57Ter)

SNV
Germline

Chr5:78985079

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_200712296

1 SubmittersRCV001383634

NM_000046.5(ARSB):c.1122C>T (p.Phe374=)

SNV
Germline

Chr5:78885604

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6

Criteria Provided
Conflicting Classifications

rs_149886659

2 SubmittersRCV001449280

NM_000046.5(ARSB):c.658A>G (p.Ile220Val)

SNV
Germline

Chr5:78964448

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_202130413

3 SubmittersRCV001433636 RCV002555180

NM_000046.5(ARSB):c.898+1G>A

SNV
Germline

Chr5:78955294

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1751669303

3 SubmittersRCV001578807

NM_000046.5(ARSB):c.409G>A (p.Gly137Ser)

SNV
Germline

Chr5:78969096

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_2112530008

1 SubmittersRCV001580626

NM_000046.5(ARSB):c.1381G>T (p.Glu461Ter)

SNV
Germline

Chr5:78780618

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_2112617391

1 SubmittersRCV001785967

NM_000046.5(ARSB):c.1208C>A (p.Ser403Ter)

SNV
Germline

Chr5:78839361

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_771296632

1 SubmittersRCV001785968

NM_000046.5(ARSB):c.345G>A (p.Trp115Ter)

SNV
Germline

Chr5:78969160

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_2112530498

2 SubmittersRCV001780642

NM_000046.5(ARSB):c.1142+1G>A

SNV
Germline

Chr5:78885583

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_746396210

1 SubmittersRCV001924884

NM_000046.5(ARSB):c.284G>T (p.Arg95Leu)

SNV
Germline

Chr5:78984965

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_118203942

1 SubmittersRCV001959298

NM_000046.5(ARSB):c.628T>C (p.Tyr210His)

SNV
Germline

Chr5:78964478

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_769313336

1 SubmittersRCV001961748

NM_000046.5(ARSB):c.1336+1G>A

SNV
Germline

Chr5:78781851

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_376233975

2 SubmittersRCV001890300

NM_000046.5(ARSB):c.283C>T (p.Arg95Trp)

SNV
Germline

Chr5:78984966

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1201268402

1 SubmittersRCV002011567

NM_000046.5(ARSB):c.1336+2T>C

SNV
Germline

Chr5:78781850

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_768012515

1 SubmittersRCV001960694

NM_000046.5(ARSB):c.430G>C (p.Gly144Arg)

SNV
Germline

Chr5:78969075

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_746206847

1 SubmittersRCV002049398

NM_000046.5(ARSB):c.161A>C (p.Asp54Ala)

SNV
Germline

Chr5:78985088

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_1378501017

1 SubmittersRCV002002643

NM_000046.5(ARSB):c.158A>G (p.Asp53Gly)

SNV
Germline

Chr5:78985091

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_2112582627

1 SubmittersRCV002041200

NM_000046.5(ARSB):c.959G>T (p.Ser320Ile)

SNV
Germline

Chr5:78885767

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

rs_2112211996

1 SubmittersRCV002249273

NM_000046.5(ARSB):c.289C>A (p.Gln97Lys)

SNV
Germline

Chr5:78984960

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV002291069

NM_000046.5(ARSB):c.166G>C (p.Gly56Arg)

SNV
Germline

Chr5:78985083

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV002305033

NM_000046.5(ARSB):c.1539C>A (p.Tyr513Ter)

SNV
Germline

Chr5:78780460

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003078759

NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)

SNV
Germline

Chr5:78985004

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003093182

NM_000046.5(ARSB):c.1451G>C (p.Arg484Thr)

SNV
Germline

Chr5:78780548

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV002584861

NM_000046.5(ARSB):c.797A>G (p.Tyr266Cys)

SNV
Germline

Chr5:78955396

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV002595844

NM_000046.5(ARSB):c.1325C>G (p.Thr442Arg)

SNV
Germline

Chr5:78781863

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV002664369

NM_000046.5(ARSB):c.499+2T>A

SNV
Germline

Chr5:78969004

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV002696153

NM_000046.5(ARSB):c.1418G>A (p.Trp473Ter)

SNV
Germline

Chr5:78780581

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV002800495

NM_000046.5(ARSB):c.376G>T (p.Glu126Ter)

SNV
Germline

Chr5:78969129

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV002829759

NM_000046.5(ARSB):c.1458C>A (p.Asp486Glu)

SNV
Germline

Chr5:78780541

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV002871322

NM_000046.5(ARSB):c.745G>T (p.Glu249Ter)

SNV
Germline

Chr5:78955448

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV002866964

NM_000046.5(ARSB):c.255C>G (p.Tyr85Ter)

SNV
Germline

Chr5:78984994

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV002962050

NM_000046.5(ARSB):c.956G>A (p.Trp319Ter)

SNV
Germline

Chr5:78885770

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003005582

NM_000046.5(ARSB):c.244C>G (p.Leu82Val)

SNV
Germline

Chr5:78985005

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003018769

NM_000046.5(ARSB):c.1143-1G>T

SNV
Germline

Chr5:78839427

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003040943

NM_000046.5(ARSB):c.312+2T>G

SNV
Germline

Chr5:78984935

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003230896

NM_000046.5(ARSB):c.905G>A (p.Gly302Glu)

SNV
Germline

Chr5:78885821

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003327325

NM_000046.5(ARSB):c.1143-1G>A

SNV
Unknown

Chr5:78839427

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003471837

NM_000046.5(ARSB):c.1337-1G>C

SNV
Unknown

Chr5:78780663

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003471866

NM_000046.5(ARSB):c.898+1G>T

SNV
Unknown

Chr5:78955294

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003466268

NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)

SNV
Germline

Chr5:78781874

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003466324

NM_000046.5(ARSB):c.690+2T>C

SNV
Unknown

Chr5:78964414

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003466360

NM_000046.5(ARSB):c.982G>A (p.Gly328Arg)

SNV
Unknown

Chr5:78885744

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003466380

NM_000046.5(ARSB):c.1142+581A>G

SNV
Germline

Chr5:78885003

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003484214

NM_000046.5(ARSB):c.304C>A (p.Arg102Ser)

SNV
Germline

Chr5:78984945

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003495428

NM_000046.5(ARSB):c.690+2T>G

SNV
Germline

Chr5:78964414

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003495352

NM_000046.5(ARSB):c.478C>G (p.Arg160Gly)

SNV
Germline

Chr5:78969027

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003495040

NM_000046.5(ARSB):c.350G>A (p.Cys117Tyr)

SNV
Germline

Chr5:78969155

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003495033

NM_000046.5(ARSB):c.551T>C (p.Ile184Thr)

SNV
Germline

Chr5:78964555

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003600774

NM_000046.5(ARSB):c.166G>A (p.Gly56Ser)

SNV
Germline

Chr5:78985083

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003600834

NM_000046.5(ARSB):c.31C>T (p.Arg11Ter)

SNV
Germline

Chr5:78985218

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003601469

NM_000046.5(ARSB):c.962T>A (p.Leu321Gln)

SNV
Germline

Chr5:78885764

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003601462

NM_000046.5(ARSB):c.715C>T (p.Gln239Ter)

SNV
Germline

Chr5:78955478

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003601697

NM_000046.5(ARSB):c.534T>G (p.His178Gln)

SNV
Germline

Chr5:78964572

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003826948

NM_000046.5(ARSB):c.323G>A (p.Gly108Asp)

SNV
Germline

Chr5:78969182

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003865872

NM_000046.5(ARSB):c.403G>T (p.Glu135Ter)

SNV
Germline

Chr5:78969102

Pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003871008

NM_000046.5(ARSB):c.1214-1G>A

SNV
Germline

Chr5:78781975

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003880251

NM_000046.5(ARSB):c.269T>C (p.Leu90Pro)

SNV
Germline

Chr5:78984980

Likely pathogenic

Mucopolysaccharidosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003991753