Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)	SNV Germline	Chr3:33072644	Conflicting classifications of pathogenicity	Infantile GM1 gangliosidosis Condition: not provided Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications	CA114628	rs_72555358	6 SubmittersRCV000000971 RCV000175599 RCV000672371 RCV000707313 RCV001778644
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)	SNV Germline	Chr3:33016819	Pathogenic	Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis Condition: not provided GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA114630	rs_72555359	9 SubmittersRCV000000972 RCV000667074 RCV001058421 RCV001174734 RCV001781153 RCV005208117
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys)	SNV Germline	Chr3:33058221	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 Condition: not provided GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GLB1-related disorder Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA114632	rs_72555360	14 SubmittersRCV000000973 RCV000256168 RCV000410436 RCV000411359 RCV000269582 RCV000411949 RCV001208622 RCV004737133 RCV005024979
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)	SNV Germline	Chr3:33072637	Pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA114634	rs_72555390	5 SubmittersRCV000000974 RCV000671053 RCV001582457 RCV001851520 RCV004799723
NM_000404.4(GLB1):c.367G>A (p.Gly123Arg)	SNV Germline	Chr3:33068849	Pathogenic	Infantile GM1 gangliosidosis Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA114636	rs_28934274	4 SubmittersRCV000000976 RCV000428850 RCV001217770 RCV004799724
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys)	SNV Germline	Chr3:33051766	Pathogenic/Likely pathogenic	Infantile GM1 gangliosidosis Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B	No Assertion Criteria Provided	CA114638	rs_72555361	2 SubmittersRCV000000977 RCV000673295
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln)	SNV Germline	Chr3:33016818	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA114640	rs_28934886	4 SubmittersRCV000000978 RCV001378633 RCV001810396 RCV002281684
NM_000404.4(GLB1):c.818G>T (p.Trp273Leu)	SNV Germline	Chr3:33051979	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Single Submitter	CA114642	rs_72555362	2 SubmittersRCV000000979 RCV004566665
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)	SNV Germline	Chr3:33016743	Pathogenic	Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Condition: not provided GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA114644	rs_72555391	8 SubmittersRCV000000981 RCV000119099 RCV000174679 RCV000586055 RCV001034863 RCV002476905
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys)	SNV Germline	Chr3:33014263	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA114646	rs_72555363	3 SubmittersRCV000000982 RCV003764504
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)	SNV Germline	Chr3:33072544	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 3 Inborn genetic diseases Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA114649	rs_72555393	7 SubmittersRCV000000984 RCV000624609 RCV000669063 RCV001068811 RCV001559063 RCV004546408
NM_000404.4(GLB1):c.247T>C (p.Tyr83His)	SNV Germline	Chr3:33068969	Pathogenic	Mucopolysaccharidosis, MPS-IV-B	No Assertion Criteria Provided	CA114652	rs_72555364	1 SubmittersRCV000000986
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)	SNV Germline	Chr3:33016744	Pathogenic	Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA156185	rs_72555365	4 SubmittersRCV000119100 RCV000665872 RCV001376852
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)	SNV Germline	Chr3:33058200	Pathogenic	Infantile GM1 gangliosidosis Condition: not provided GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Inborn genetic diseases Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA114654	rs_72555366	10 SubmittersRCV000000988 RCV000179306 RCV000586182 RCV000633470 RCV000984269 RCV000984270 RCV000984271 RCV002512629 RCV005024980
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)	SNV Germline	Chr3:33018482	Pathogenic	Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Spondyloepiphyseal dysplasia GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA114656	rs_72555367	8 SubmittersRCV000000989 RCV000850556 RCV001091796 RCV001382999 RCV001843450 RCV005237344
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)	SNV Germline	Chr3:33046137	Pathogenic	GM1-gangliosidosis, type I, with cardiac involvement Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Infantile GM1 gangliosidosis Spastic ataxia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114658	rs_72555372	10 SubmittersRCV000000990 RCV000665526 RCV000780302 RCV001223149 RCV001331201 RCV001642195 RCV002225254
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)	SNV Germline	Chr3:33014292	Pathogenic	Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided GM1 gangliosidosis GM1 gangliosidosis type 3	Criteria Provided Multiple Submitters No Conflicts	CA114660	rs_72555368	6 SubmittersRCV000000991 RCV000673423 RCV001040694 RCV001818116 RCV002281685 RCV003137481
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro)	SNV Germline	Chr3:33021576	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B	No Assertion Criteria Provided	CA114662	rs_72555369	2 SubmittersRCV000000992 RCV000667601
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp)	SNV Germline	Chr3:33072587	Pathogenic	GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Condition: not provided GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA114664	rs_72555370	6 SubmittersRCV000000993 RCV000760159 RCV001235447 RCV004589492 RCV005430910 RCV005031376
NM_000404.4(GLB1):c.176G>A (p.Arg59His)	SNV Germline/somatic	Chr3:33072613	Pathogenic/Likely pathogenic	Infantile GM1 gangliosidosis GM1-gangliosidosis, type I, with cardiac involvement GM1 gangliosidosis type 2 Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GLB1-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA114666	rs_72555392	21 SubmittersRCV000000995 RCV000000994 RCV000059350 RCV000078708 RCV000175600 RCV000778693 RCV000850557 RCV000984179 RCV000811276 RCV004545719 RCV004018531
NM_000404.4(GLB1):c.1480-2A>G	SNV Germline	Chr3:33014312	Pathogenic	GM1-gangliosidosis, type I, with cardiac involvement Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis Condition: not provided Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Uveal melanoma	Criteria Provided Multiple Submitters No Conflicts	CA114668	rs_587776526	8 SubmittersRCV000000996 RCV000790562 RCV001049270 RCV001251276 RCV002243610 RCV002470702 RCV002496221 RCV005887149
NM_000404.4(GLB1):c.1771T>A (p.Tyr591Asn)	SNV Germline	Chr3:32997308	Pathogenic	GM1-gangliosidosis, type I, with cardiac involvement	No Assertion Criteria Provided	CA114669	rs_72555373	1 SubmittersRCV000000997
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)	SNV Germline	Chr3:32997307	Pathogenic/Likely pathogenic	GM1-gangliosidosis, type I, with cardiac involvement Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA114671	rs_72555371	4 SubmittersRCV000000998 RCV000673090 RCV003764505 RCV005252653
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu)	SNV Germline	Chr3:33068897	Likely pathogenic	GM1 gangliosidosis type 2 Inborn genetic diseases GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA145198	rs_397515616	5 SubmittersRCV000059351 RCV000623339 RCV004586535 RCV003764741 RCV005031548
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro)	SNV Germline/somatic	Chr3:33065497	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA145200	rs_397515617	3 SubmittersRCV000059352 RCV000541694 RCV005031549
NM_000404.4(GLB1):c.1004C>T (p.Ala335Val)	SNV Germline	Chr3:33046184	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA200673	rs_398123347	1 SubmittersRCV000173683
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)	SNV Germline	Chr3:33018485	Pathogenic/Likely pathogenic	Condition: not provided GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA201009	rs_202237232	3 SubmittersRCV000174475 RCV000668735 RCV001854385
NM_000404.4(GLB1):c.1426C>T (p.Leu476=)	SNV Germline	Chr3:33016762	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GLB1-related disorder	Criteria Provided Conflicting Classifications	CA220717	rs_113534264	5 SubmittersRCV000078703 RCV000327956 RCV000382510 RCV001082369 RCV001449934 RCV004537310
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)	SNV Germline	Chr3:33072618	Pathogenic	GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Condition: not provided GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA201540	rs_398123350	7 SubmittersRCV000671504 RCV000675686 RCV002513824 RCV005859496 RCV003987350
NM_000404.4(GLB1):c.1769G>A (p.Arg590His)	SNV Germline	Chr3:32997310	Pathogenic/Likely pathogenic	Condition: not provided GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Progressive familial intrahepatic cholestasis GM1 gangliosidosis GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA201251	rs_398123351	7 SubmittersRCV000174999 RCV000794211 RCV001804833 RCV001810420 RCV004542752 RCV004526614 RCV005025132
NM_000404.4(GLB1):c.397-1G>A	SNV Germline	Chr3:33068291	Pathogenic	Condition: not provided GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA202709	rs_398123353	4 SubmittersRCV000178086 RCV000667741 RCV001211514
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)	SNV Germline	Chr3:33068245	Pathogenic/Likely pathogenic	Condition: not provided GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA202711	rs_192732174	12 SubmittersRCV000178094 RCV000666298 RCV000778692 RCV000818014 RCV001331203
NM_000404.4(GLB1):c.457+2T>C	SNV Germline	Chr3:33068228	Pathogenic/Likely pathogenic	Condition: not provided GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA202710	rs_398123354	2 SubmittersRCV000178088 RCV003764757
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)	SNV Germline	Chr3:33065534	Conflicting classifications of pathogenicity	Condition: not provided GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA220721	rs_398123355	5 SubmittersRCV000078717 RCV000673411 RCV001378119 RCV001175293
NM_000404.4(GLB1):c.734-8A>G	SNV Germline	Chr3:33053557	Conflicting classifications of pathogenicity	Condition: not provided GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Lung cancer Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications	CA220723	rs_398123357	5 SubmittersRCV000078720 RCV000669168 RCV002508193 RCV005886217 RCV006456679
NM_000404.4(GLB1):c.75+1G>C	SNV Germline	Chr3:33097010	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA200306	rs_398123358	3 SubmittersRCV000173120 RCV006362054 RCV006555421
NM_000404.4(GLB1):c.922T>C (p.Phe308Leu)	SNV Germline	Chr3:33051791	Pathogenic	Infantile GM1 gangliosidosis	No Assertion Criteria Provided	CA150630	rs_587779404	1 SubmittersRCV000087093
NM_000404.4(GLB1):c.901G>A (p.Ala301Thr)	SNV Germline	Chr3:33051896	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA203577	rs_727503954	1 SubmittersRCV000180156
NM_000404.4(GLB1):c.1A>C (p.Met1Leu)	SNV Germline	Chr3:33097085	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA200308	rs_794726886	1 SubmittersRCV000173126
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)	SNV Germline	Chr3:32997311	Pathogenic	Infantile GM1 gangliosidosis Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GLB1-related disorder Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA201253	rs_794727165	7 SubmittersRCV000175003 RCV000175004 RCV000703485 RCV003221293 RCV003387787 RCV004798797
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)	SNV Germline	Chr3:33072586	Pathogenic/Likely pathogenic	Condition: not provided GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA201542	rs_572237881	6 SubmittersRCV000175606 RCV000673880 RCV001201192 RCV001852152
NM_000404.4(GLB1):c.602G>A (p.Arg201His)	SNV Germline	Chr3:33058220	Pathogenic/Likely pathogenic	Condition: not provided GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA203223	rs_189115557	16 SubmittersRCV000255006 RCV000309607 RCV000665698 RCV000995553 RCV000818052 RCV002500509 RCV002286710
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)	SNV Germline	Chr3:33051988	Conflicting classifications of pathogenicity	Condition: not provided GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B not specified GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA203575	rs_371546950	4 SubmittersRCV000180154 RCV001852241 RCV003155108 RCV006555043
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)	SNV Germline	Chr3:33018510	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Condition: not provided	Criteria Provided Conflicting Classifications	CA351471	rs_180869784	3 SubmittersRCV000537911 RCV000673241 RCV003482247
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)	SNV Germline	Chr3:33068940	Pathogenic	GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis Condition: not provided GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA2299743	rs_748830051	6 SubmittersRCV000670448 RCV000766231 RCV001091797 RCV001387511 RCV005869188
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)	SNV Germline	Chr3:33014057	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA2299321	rs_371582179	9 SubmittersRCV000239412 RCV000665995 RCV001061617 RCV001192992 RCV001200664 RCV002518537
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)	SNV Germline	Chr3:33065551	Pathogenic	Condition: not provided GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA10588356	rs_376710410	6 SubmittersRCV000256106 RCV000665871 RCV000809706 RCV000984003 RCV001175291
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)	SNV Germline	Chr3:33051989	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GLB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2299582	rs_376663785	10 SubmittersRCV000394616 RCV000623067 RCV000666452 RCV000689244 RCV000780303 RCV004545765
NM_000404.4(GLB1):c.*319G>A	SNV Germline	Chr3:32996726	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided	Criteria Provided Conflicting Classifications	CA10615627	rs_139730198	3 SubmittersRCV000263456 RCV000318566 RCV003430878
NM_000404.4(GLB1):c.1530G>A (p.Thr510=)	SNV Germline	Chr3:33014260	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA2299365	rs_191203702	2 SubmittersRCV000316174 RCV000361475 RCV000874904
NM_000404.4(GLB1):c.1480-8C>G	SNV Germline	Chr3:33014318	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA2299376	rs_753129246	2 SubmittersRCV000291569 RCV000376709 RCV000875356
NM_000404.4(GLB1):c.-25C>G	SNV Germline	Chr3:33097110	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Condition: not provided	Criteria Provided Conflicting Classifications	CA2300152	rs_368944274	3 SubmittersRCV000270068 RCV000313297 RCV004694734
NM_000404.4(GLB1):c.1347+10G>A	SNV Germline	Chr3:33018438	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GLB1-related disorder	Criteria Provided Conflicting Classifications	CA2299419	rs_199538100	3 SubmittersRCV000288195 RCV000352478 RCV000877602 RCV004530391
NM_000404.4(GLB1):c.234C>T (p.Asn78=)	SNV Germline	Chr3:33072555	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA2299767	rs_368796666	2 SubmittersRCV000279897 RCV000341987 RCV000875466
NM_000404.4(GLB1):c.1529C>T (p.Thr510Met)	SNV Germline	Chr3:33014261	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2299366	rs_1803198	3 SubmittersRCV000266743 RCV000321882 RCV001431859 RCV003343791
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)	SNV Germline	Chr3:33018452	Pathogenic/Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Infantile GM1 gangliosidosis GLB1-related disorder GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3	Criteria Provided Multiple Submitters No Conflicts	CA2299424	rs_757926581	7 SubmittersRCV000292413 RCV000675170 RCV001382666 RCV001584055 RCV005869335 RCV005027449
NM_000404.4(GLB1):c.1234-11T>A	SNV Germline	Chr3:33018572	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Chronic lymphocytic leukemia/small lymphocytic lymphoma	Criteria Provided Conflicting Classifications	CA2299450	rs_145674318	3 SubmittersRCV000349673 RCV000408323 RCV002520118 RCV005897659
NM_000404.4(GLB1):c.1032T>C (p.Thr344=)	SNV Germline	Chr3:33046156	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided	Criteria Provided Conflicting Classifications	CA2299521	rs_199927127	3 SubmittersRCV000303902 RCV000403633 RCV000876887 RCV003333979
NM_000404.4(GLB1):c.841C>T (p.His281Tyr)	SNV Germline	Chr3:33051956	Pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GLB1-related disorder Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis Lysosomal storage disease	Criteria Provided Multiple Submitters No Conflicts	CA2299580	rs_745386663	8 SubmittersRCV000413217 RCV000662341 RCV000805468 RCV004737460 RCV005410898 RCV006252565
NM_000404.4(GLB1):c.396+2T>C	SNV Germline	Chr3:33068818	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA16042439	rs_1057517738	3 SubmittersRCV000414347 RCV003766144 RCV005900660
NM_000404.4(GLB1):c.1696C>T (p.Pro566Ser)	SNV Germline	Chr3:33014094	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16604872	rs_1057524868	1 SubmittersRCV000422841
NM_000404.4(GLB1):c.902C>T (p.Ala301Val)	SNV Germline	Chr3:33051895	Pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis GLB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2299570	rs_750531880	6 SubmittersRCV000418628 RCV000670128 RCV001244569 RCV003330669 RCV004532999
NM_000404.4(GLB1):c.245+1G>A	SNV Germline	Chr3:33072543	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis Condition: not provided Colon adenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA2299763	rs_778423653	7 SubmittersRCV000477865 RCV000685614 RCV001175540 RCV004591410 RCV005899616
NM_000404.4(GLB1):c.31C>G (p.Leu11Val)	SNV Germline	Chr3:33097055	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Infantile GM1 gangliosidosis GLB1-related disorder not specified	Criteria Provided Conflicting Classifications	CA2300136	rs_77988381	5 SubmittersRCV000488298 RCV001089162 RCV001335294 RCV004541535 RCV005407147
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)	SNV Germline	Chr3:33014144	Pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299335	rs_776327443	6 SubmittersRCV000490151 RCV000666099 RCV000811767 RCV002286741
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)	SNV Germline	Chr3:33014202	Conflicting classifications of pathogenicity	Condition: not provided Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GLB1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2299352	rs_371397760	5 SubmittersRCV000522107 RCV000765726 RCV001079383 RCV004537876 RCV005572327
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)	SNV Germline	Chr3:33072614	Pathogenic	Condition: not provided GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Infantile GM1 gangliosidosis GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299775	rs_756878418	10 SubmittersRCV000597388 RCV000669165 RCV000987141 RCV001050379 RCV002245028 RCV005240291
NM_000404.4(GLB1):c.146G>A (p.Arg49His)	SNV Germline	Chr3:33072643	Pathogenic/Likely pathogenic	Inborn genetic diseases GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2299779	rs_780523881	5 SubmittersRCV000624583 RCV000672724 RCV001057694 RCV003238787
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe)	SNV Germline	Chr3:33068248	Likely pathogenic	Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA351994074	rs_1553612143	2 SubmittersRCV000625810 RCV002295308
NM_000404.4(GLB1):c.443G>A (p.Arg148His)	SNV Germline	Chr3:33068244	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299702	rs_745864233	3 SubmittersRCV000626074 RCV000763097 RCV001855325
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)	SNV Germline	Chr3:33018470	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Condition: not provided Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GLB1-related disorder GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA2299427	rs_564428355	8 SubmittersRCV000633471 RCV000666461 RCV001568844 RCV003338697 RCV005431826 RCV004737910 RCV005208144
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter)	SNV Germline	Chr3:33014076	Pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA72646038	rs_1803200	2 SubmittersRCV000672277 RCV002531313
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys)	SNV Germline	Chr3:33016734	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA351988716	rs_1553606400	3 SubmittersRCV000671173 RCV001855552 RCV006452823
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)	SNV Germline	Chr3:33018474	Pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2299428	rs_780724173	3 SubmittersRCV000666573 RCV001049111 RCV005639180
NM_000404.4(GLB1):c.1144-2A>G	SNV Germline	Chr3:33021657	Pathogenic/Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA351993514	rs_1553607014	3 SubmittersRCV000673337 RCV001071947 RCV003387908
NM_000404.4(GLB1):c.733+1G>A	SNV Germline	Chr3:33058088	Pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA72670617	rs_1041204916	3 SubmittersRCV000668507 RCV001203710 RCV001784254
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)	SNV Germline	Chr3:33058250	Pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA352004835	rs_1553611055	2 SubmittersRCV000664551 RCV002530631
NM_000404.4(GLB1):c.552+2T>C	SNV Germline	Chr3:33065461	Likely pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351991628	rs_1553611778	2 SubmittersRCV000669176 RCV002532083
NM_000404.4(GLB1):c.401G>T (p.Gly134Val)	SNV Germline	Chr3:33068286	Pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA2299710	rs_773562141	2 SubmittersRCV000672112 RCV002531304
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys)	SNV Germline	Chr3:33068968	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA351995593	rs_1553612220	3 SubmittersRCV000671078 RCV003767991 RCV005240435
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn)	SNV Germline	Chr3:33072637	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA351996616	rs_72555390	3 SubmittersRCV000670208 RCV003767982 RCV005901479
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)	SNV Germline	Chr3:32997311	Likely pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA352000786	rs_794727165	2 SubmittersRCV000666546 RCV002530688
NM_000404.4(GLB1):c.1481G>T (p.Gly494Val)	SNV Germline	Chr3:33014309	Pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA2299373	rs_202007119	2 SubmittersRCV000664835 RCV005223104
NM_000404.4(GLB1):c.245+1G>C	SNV Germline	Chr3:33072543	Pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA72673151	rs_778423653	2 SubmittersRCV000670410 RCV002531251
NM_000404.4(GLB1):c.1479+1G>A	SNV Germline	Chr3:33016708	Pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Condition: not provided GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA72648572	rs_1022476871	3 SubmittersRCV000673840 RCV000731323 RCV001389790
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)	SNV Germline	Chr3:33016736	Pathogenic/Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA72648584	rs_968221254	3 SubmittersRCV000668974 RCV001379670
NM_000404.4(GLB1):c.1233+1G>A	SNV Germline	Chr3:33021565	Pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GLB1-related disorder	Criteria Provided Single Submitter	CA351992810	rs_1553606984	3 SubmittersRCV000672279 RCV001855576 RCV004723054
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)	SNV Germline	Chr3:33046150	Pathogenic/Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299520	rs_749980306	3 SubmittersRCV000674446 RCV001855609 RCV002271564
NM_000404.4(GLB1):c.765G>C (p.Gln255His)	SNV Germline	Chr3:33053518	Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA352002733	rs_1553610553	2 SubmittersRCV000670551 RCV003767987
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)	SNV Germline	Chr3:32997333	Pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2299300	rs_778375259	3 SubmittersRCV000673883 RCV001855604 RCV003236832
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter)	SNV Unknown	Chr3:33014181	Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B	No Assertion Criteria Provided	CA351985769	rs_1553606091	1 SubmittersRCV000667717
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn)	SNV Germline	Chr3:33016717	Conflicting classifications of pathogenicity	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA2299384	rs_780232995	4 SubmittersRCV000674513 RCV001868281 RCV002289953 RCV006463860
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)	SNV Germline	Chr3:33068245	Pathogenic/Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided GM1 gangliosidosis GLB1-related disorder Lung cancer	Criteria Provided Multiple Submitters No Conflicts	CA2299703	rs_192732174	10 SubmittersRCV000666897 RCV001055679 RCV000727559 RCV001175301 RCV004533467 RCV005901453
NM_000404.4(GLB1):c.1438A>G (p.Met480Val)	SNV Germline	Chr3:33016750	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Condition: not provided Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA351988871	rs_1280400930	4 SubmittersRCV000669124 RCV003238800 RCV004689842
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)	SNV Germline	Chr3:33018485	Conflicting classifications of pathogenicity	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis not specified GLB1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2299431	rs_202237232	6 SubmittersRCV000669669 RCV000874342 RCV001150121 RCV001150120 RCV002222593 RCV004535685 RCV006448562
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)	SNV Germline	Chr3:33046150	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided Infantile GM1 gangliosidosis GLB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA351999266	rs_749980306	5 SubmittersRCV000665726 RCV000821368 RCV005632590 RCV006459781 RCV005870749
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)	SNV Germline	Chr3:33046217	Conflicting classifications of pathogenicity	Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B not specified	Criteria Provided Conflicting Classifications	CA351999477	rs_977975596	3 SubmittersRCV000672690 RCV003767999 RCV006268940
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter)	SNV Unknown	Chr3:33065492	Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B	No Assertion Criteria Provided	CA351992067	rs_1553611789	1 SubmittersRCV000666243
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)	SNV Germline	Chr3:33068241	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GLB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2299701	rs_778700089	5 SubmittersRCV000668601 RCV000679994 RCV001228044 RCV005407863 RCV005632602
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)	SNV Germline	Chr3:33068821	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA351994450	rs_1553612189	3 SubmittersRCV000672923 RCV001731879 RCV002249399
NM_000404.4(GLB1):c.335A>C (p.His112Pro)	SNV Germline	Chr3:33068881	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299736	rs_753965226	3 SubmittersRCV000670769 RCV002531261 RCV005056415
NM_000404.4(GLB1):c.623G>A (p.Arg208His)	SNV Germline	Chr3:33058199	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis Condition: not provided Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications	CA2299644	rs_111840209	6 SubmittersRCV000876207 RCV001148903 RCV001354677 RCV001145887
NM_000404.4(GLB1):c.1697C>A (p.Pro566His)	SNV Germline	Chr3:33014093	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351983787	rs_1575410340	1 SubmittersRCV000799151
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn)	SNV Germline	Chr3:33016709	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Infantile GM1 gangliosidosis not specified	Criteria Provided Conflicting Classifications	CA351988441	rs_1172435886	4 SubmittersRCV000810175 RCV005208150 RCV006265295
NM_000404.4(GLB1):c.827A>C (p.His276Pro)	SNV Germline	Chr3:33051970	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA352001574	rs_1559401406	1 SubmittersRCV000820882
NM_000404.4(GLB1):c.553-1G>C	SNV Germline	Chr3:33058270	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA352004996	rs_1575459735	1 SubmittersRCV000791815
NM_000404.4(GLB1):c.1601A>G (p.His534Arg)	SNV Germline	Chr3:33014189	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2299349	rs_770982909	3 SubmittersRCV000950982 RCV001143887 RCV001143888 RCV004029814
NM_000404.4(GLB1):c.534G>A (p.Gly178=)	SNV Germline	Chr3:33065481	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA72668868	rs_928862880	3 SubmittersRCV000972042 RCV001148906 RCV001148907 RCV004973213
NM_000404.4(GLB1):c.2016A>G (p.Ser672=)	SNV Germline	Chr3:32997063	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA2299254	rs_756403702	4 SubmittersRCV000908403 RCV001150009 RCV001150010 RCV001563857 RCV001563856 RCV001563858 RCV003438575
NM_000404.4(GLB1):c.950G>A (p.Trp317Ter)	SNV Germline	Chr3:33051763	Likely pathogenic	Infantile GM1 gangliosidosis	No Assertion Criteria Provided	CA352000899	rs_1575451526	1 SubmittersRCV000985131
NM_000404.4(GLB1):c.385G>C (p.Glu129Gln)	SNV Germline	Chr3:33068831	Likely pathogenic	Infantile GM1 gangliosidosis	Criteria Provided Single Submitter	CA72670809	rs_886042079	1 SubmittersRCV000984877
NM_000404.4(GLB1):c.921G>A (p.Met307Ile)	SNV Germline	Chr3:33051792	Conflicting classifications of pathogenicity	Condition: not provided See cases	Criteria Provided Conflicting Classifications	CA352001054	rs_1575451599	2 SubmittersRCV000998015 RCV004797888
NM_000404.4(GLB1):c.716C>T (p.Thr239Met)	SNV Germline	Chr3:33058106	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299627	rs_746766232	7 SubmittersRCV000995552 RCV001331204 RCV001378118 RCV002279689 RCV005036266 RCV004702562
NM_000404.4(GLB1):c.407C>T (p.Pro136Leu)	SNV Germline	Chr3:33068280	Likely pathogenic	Infantile GM1 gangliosidosis	Criteria Provided Single Submitter	CA351994262	rs_1575471281	1 SubmittersRCV001009625
NM_000404.4(GLB1):c.1318C>T (p.His440Tyr)	SNV Germline	Chr3:33018477	Pathogenic	Infantile GM1 gangliosidosis	No Assertion Criteria Provided	CA351992123	rs_1575414831	1 SubmittersRCV001027535
NM_000404.4(GLB1):c.1286C>T (p.Pro429Leu)	SNV Germline	Chr3:33018509	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2299435	rs_201148460	2 SubmittersRCV001041301 RCV004031244
NM_000404.4(GLB1):c.931G>A (p.Gly311Arg)	SNV Germline	Chr3:33051782	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3	Criteria Provided Multiple Submitters No Conflicts	CA2299555	rs_368568171	3 SubmittersRCV001059700 RCV001175304 RCV005029643
NM_000404.4(GLB1):c.416T>A (p.Leu139Gln)	SNV Germline	Chr3:33068271	Likely pathogenic	Infantile GM1 gangliosidosis	Criteria Provided Single Submitter	CA351994216	rs_1699766499	1 SubmittersRCV001261541
NM_000404.4(GLB1):c.1095C>T (p.Ile365=)	SNV Germline	Chr3:33024299	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GLB1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2299502	rs_200762972	4 SubmittersRCV001143989 RCV001143990 RCV001506617 RCV004538366 RCV003438677
NM_000404.4(GLB1):c.711C>T (p.Tyr237=)	SNV Germline	Chr3:33058111	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA2299629	rs_757982518	2 SubmittersRCV001145886 RCV001145885 RCV001406952
NM_000404.4(GLB1):c.-48G>C	SNV Germline	Chr3:33097133	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications	CA2300160	rs_529551028	1 SubmittersRCV001149030 RCV001149031
NM_000404.4(GLB1):c.1479+11C>T	SNV Germline	Chr3:33016698	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA2299383	rs_369789589	2 SubmittersRCV001148552 RCV001148553 RCV002070801
NM_000404.4(GLB1):c.1348-7C>T	SNV Germline	Chr3:33016847	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA72648786	rs_774732235	2 SubmittersRCV001148554 RCV001148555 RCV001501788
NM_000404.4(GLB1):c.1069-4A>G	SNV Germline	Chr3:33024329	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications	CA2299508	rs_781267265	2 SubmittersRCV001143991 RCV001143992 RCV001414861
NM_000404.4(GLB1):c.958G>A (p.Ala320Thr)	SNV Germline	Chr3:33046230	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351999506	rs_1698735097	1 SubmittersRCV001171832
NM_000404.4(GLB1):c.149A>G (p.Tyr50Cys)	SNV Germline	Chr3:33072640	Pathogenic/Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA351996650	rs_1207569870	3 SubmittersRCV001175103 RCV001384625 RCV005432601
NM_000404.4(GLB1):c.574T>C (p.Tyr192His)	SNV Germline	Chr3:33058248	Conflicting classifications of pathogenicity	GM1 gangliosidosis not specified GLB1-related disorder	Criteria Provided Conflicting Classifications	CA352004817	rs_1408171481	3 SubmittersRCV001175302 RCV005056990 RCV005866819
NM_000404.4(GLB1):c.380G>A (p.Cys127Tyr)	SNV Germline	Chr3:33068836	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351994545	rs_1699791081	2 SubmittersRCV001175297 RCV005236659
NM_000404.4(GLB1):c.1784G>C (p.Arg595Pro)	SNV Germline	Chr3:32997295	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA352000756	rs_199694629	1 SubmittersRCV001200663
NM_000404.4(GLB1):c.941T>G (p.Phe314Cys)	SNV Germline	Chr3:33051772	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA352000948	rs_1699001242	1 SubmittersRCV001200666
NM_000404.4(GLB1):c.785G>C (p.Gly262Ala)	SNV Germline	Chr3:33053498	Pathogenic/Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA2299601	rs_377174858	2 SubmittersRCV003770235 RCV005432613
NM_000404.4(GLB1):c.1348-3C>G	SNV Germline	Chr3:33016843	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA1139657924	rs_1697255114	1 SubmittersRCV001217817
NM_000404.4(GLB1):c.734-2A>G	SNV Germline	Chr3:33053551	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA352002974	rs_1699088102	1 SubmittersRCV001217818
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys)	SNV Germline	Chr3:33072598	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B not specified Inborn genetic diseases GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications	CA2299770	rs_759483184	4 SubmittersRCV001231267 RCV003235505 RCV004978165 RCV005029800
NM_000404.4(GLB1):c.955+2T>G	SNV Germline	Chr3:33051756	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA2299551	rs_746883447	3 SubmittersRCV001225769 RCV005036493 RCV005909071
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp)	SNV Germline	Chr3:33018540	Pathogenic/Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2299444	rs_747709527	3 SubmittersRCV001250224 RCV001349145 RCV003238855
NM_000404.4(GLB1):c.1254C>G (p.Tyr418Ter)	SNV Germline	Chr3:33018541	Pathogenic	GM1 gangliosidosis	Criteria Provided Single Submitter	CA351992542	rs_1697338499	1 SubmittersRCV001250225
NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter)	SNV Unknown	Chr3:33018483	Likely pathogenic	GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3	Criteria Provided Single Submitter	CA351992162	rs_1697334156	1 SubmittersRCV001263743
NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter)	SNV Unknown	Chr3:33051795	Likely pathogenic	GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3	Criteria Provided Single Submitter	CA352001074	rs_1699002261	1 SubmittersRCV001263744
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter)	SNV Germline	Chr3:33051978	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA352001617	rs_1378338444	3 SubmittersRCV001263745 RCV002537662 RCV005029851
NM_000404.4(GLB1):c.775G>T (p.Glu259Ter)	SNV Unknown	Chr3:33053508	Likely pathogenic	GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3	Criteria Provided Single Submitter	CA352002661	rs_1699086565	1 SubmittersRCV001263746
NM_000404.4(GLB1):c.733+2T>C	SNV Germline	Chr3:33058087	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA352003846	rs_1699291583	2 SubmittersRCV001269210 RCV003770401
NM_000404.4(GLB1):c.1388T>C (p.Leu463Pro)	SNV Germline	Chr3:33016800	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351989524	rs_2125467060	1 SubmittersRCV001366260
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys)	SNV Germline	Chr3:33072682	Pathogenic/Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Condition: not provided GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA2299782	rs_748345527	4 SubmittersRCV001373808 RCV004728689 RCV005023114 RCV005236841
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)	SNV Germline	Chr3:33058265	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA72670727	rs_779023917	2 SubmittersRCV001377615 RCV001732176
NM_000404.4(GLB1):c.202C>G (p.Arg68Gly)	SNV Germline	Chr3:33072587	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351996450	rs_72555370	1 SubmittersRCV001379676
NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter)	SNV Germline	Chr3:33014091	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351983760	rs_1295295164	2 SubmittersRCV001389009 RCV003481105
NM_000404.4(GLB1):c.1580G>A (p.Trp527Ter)	SNV Germline	Chr3:33014210	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA2299354	rs_769781778	2 SubmittersRCV001390073 RCV003230671
NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter)	SNV Germline	Chr3:33018471	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA351992056	rs_2125469895	2 SubmittersRCV001381783 RCV005023134
NM_000404.4(GLB1):c.1258A>C (p.Thr420Pro)	SNV Germline	Chr3:33018537	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2299441	rs_200181401	3 SubmittersRCV001382667 RCV004770136 RCV004797941
NM_000404.4(GLB1):c.994G>A (p.Asp332Asn)	SNV Germline	Chr3:33046194	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299525	rs_781658798	4 SubmittersRCV001383879 RCV003327516 RCV004690099 RCV005038188
NM_000404.4(GLB1):c.75+2T>G	SNV Germline	Chr3:33097009	Pathogenic	Mucopolysaccharidosis, MPS-IV-B	No Assertion Criteria Provided	CA352007430	rs_2125591484	1 SubmittersRCV001391310
NM_000404.4(GLB1):c.782A>G (p.Lys261Arg)	SNV Germline	Chr3:33053501	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GLB1-related disorder	Criteria Provided Conflicting Classifications	CA2299602	rs_200050465	2 SubmittersRCV001430040 RCV004533719
NM_000404.4(GLB1):c.61A>G (p.Thr21Ala)	SNV Germline	Chr3:33097025	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2300128	rs_201903758	3 SubmittersRCV001435358 RCV002261364 RCV002555195
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)	SNV Germline	Chr3:33046178	Pathogenic/Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299523	rs_752177002	4 SubmittersRCV001650518 RCV001882746 RCV003323912
NM_000404.4(GLB1):c.451G>T (p.Asp151Tyr)	SNV Germline	Chr3:33068236	Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis	Criteria Provided Single Submitter	CA351994013	rs_375582374	2 SubmittersRCV001730468 RCV004798916
NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys)	SNV Germline	Chr3:33046190	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA2299524	rs_370107958	4 SubmittersRCV002290745 RCV004798927 RCV005038287
NM_000404.4(GLB1):c.1617G>A (p.Trp539Ter)	SNV Germline	Chr3:33014173	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351985680	rs_1697143129	1 SubmittersRCV001783378
NM_000404.4(GLB1):c.266A>T (p.His89Leu)	SNV Germline	Chr3:33068950	Pathogenic	Infantile GM1 gangliosidosis	Criteria Provided Single Submitter	CA10602176	rs_2125548832	1 SubmittersRCV001806352
NM_000404.4(GLB1):c.734-6T>A	SNV Germline	Chr3:33053555	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Condition: not provided	Criteria Provided Conflicting Classifications	CA432959588	rs_1350583798	2 SubmittersRCV002024123 RCV006280914
NM_000404.4(GLB1):c.517C>G (p.Leu173Val)	SNV Germline	Chr3:33065498	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351992112	rs_1303774639	1 SubmittersRCV002036528
NM_000404.4(GLB1):c.915-1G>T	SNV Germline	Chr3:33051799	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Thyroid cancer, nonmedullary, 1 Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter	CA2299559	rs_749020375	2 SubmittersRCV001985845 RCV005925462 RCV005925461
NM_000404.4(GLB1):c.176G>T (p.Arg59Leu)	SNV Germline	Chr3:33072613	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B not specified	Criteria Provided Conflicting Classifications	CA351996505	rs_72555392	2 SubmittersRCV002019499 RCV006267005
NM_000404.4(GLB1):c.1772A>C (p.Tyr591Ser)	SNV Germline	Chr3:32997307	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA72667244	rs_72555371	1 SubmittersRCV001967085
NM_000404.4(GLB1):c.1479+1G>C	SNV Germline	Chr3:33016708	Pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351988433	rs_1022476871	1 SubmittersRCV001905463
NM_000404.4(GLB1):c.246-2A>G	SNV Germline	Chr3:33068972	Pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351995624	rs_2125548861	1 SubmittersRCV001910472
NM_000404.4(GLB1):c.424A>T (p.Lys142Ter)	SNV Germline	Chr3:33068263	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA2299707	rs_776213501	1 SubmittersRCV001927524
NM_000404.4(GLB1):c.569G>A (p.Gly190Asp)	SNV Germline	Chr3:33058253	Pathogenic/Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA2299649	rs_756575833	3 SubmittersRCV001863251 RCV002290779 RCV004782800
NM_000404.4(GLB1):c.982C>T (p.Pro328Ser)	SNV Germline	Chr3:33046206	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis not specified	Criteria Provided Conflicting Classifications	CA351999452	rs_1244404381	2 SubmittersRCV001898423 RCV003317543
NM_000404.4(GLB1):c.1739A>G (p.Gln580Arg)	SNV Germline	Chr3:32997340	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA352000853	rs_2125442981	1 SubmittersRCV001977677
NM_000404.4(GLB1):c.1040A>G (p.Tyr347Cys)	SNV Germline	Chr3:33046148	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351999254	rs_2125514041	1 SubmittersRCV001977720
NM_000404.4(GLB1):c.521A>C (p.Tyr174Ser)	SNV Germline	Chr3:33065494	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351992088	rs_2125543580	1 SubmittersRCV002024552
NM_000404.4(GLB1):c.1616G>A (p.Trp539Ter)	SNV Germline	Chr3:33014174	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351985696	rs_2125463197	1 SubmittersRCV001922145
NM_000404.4(GLB1):c.397G>T (p.Gly133Ter)	SNV Germline	Chr3:33068290	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351994330	rs_2125547910	1 SubmittersRCV001999719
NM_000404.4(GLB1):c.203G>T (p.Arg68Leu)	SNV Germline	Chr3:33072586	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B not specified	Criteria Provided Conflicting Classifications	CA351996448	rs_572237881	2 SubmittersRCV002002980 RCV003323967
NM_000404.4(GLB1):c.1276T>G (p.Cys426Gly)	SNV Germline	Chr3:33018519	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA2299437	rs_765230559	1 SubmittersRCV001873061
NM_000404.4(GLB1):c.1258A>G (p.Thr420Ala)	SNV Germline	Chr3:33018537	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B not specified	Criteria Provided Conflicting Classifications	CA351992519	rs_200181401	2 SubmittersRCV002003336 RCV005432886
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe)	SNV Germline	Chr3:33068836	Conflicting classifications of pathogenicity	not specified Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications	CA351994543	rs_1699791081	3 SubmittersRCV004526893 RCV005025590 RCV002001035
NM_000404.4(GLB1):c.1442G>A (p.Gly481Glu)	SNV Germline	Chr3:33016746	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis not specified	Criteria Provided Conflicting Classifications	CA2299388	rs_747812191	2 SubmittersRCV001952469 RCV004690186
NM_000404.4(GLB1):c.161G>A (p.Ser54Asn)	SNV Germline	Chr3:33072628	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299778	rs_143423935	2 SubmittersRCV002029304 RCV005238174
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)	SNV Germline	Chr3:33018539	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3	Criteria Provided Conflicting Classifications	CA2299443	rs_780634117	2 SubmittersRCV002026850 RCV002498062
NM_000404.4(GLB1):c.451G>A (p.Asp151Asn)	SNV Germline	Chr3:33068236	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA2299699	rs_375582374	1 SubmittersRCV001973484
NM_000404.4(GLB1):c.1009C>G (p.Leu337Val)	SNV Germline	Chr3:33046179	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351999382	rs_376034559	1 SubmittersRCV001986227
NM_000404.4(GLB1):c.1645C>T (p.Pro549Ser)	SNV Germline	Chr3:33014145	Conflicting classifications of pathogenicity	not specified GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications	CA351984554	rs_2125463133	2 SubmittersRCV006458903 RCV002021340
NM_000404.4(GLB1):c.257G>A (p.Trp86Ter)	SNV Germline	Chr3:33068959	Pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351995502	rs_2125548844	1 SubmittersRCV001866791
NM_000404.4(GLB1):c.553-2A>T	SNV Germline	Chr3:33058271	Pathogenic/Likely pathogenic	Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GLB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA352004999	rs_2125533195	3 SubmittersRCV002249057 RCV003094010 RCV004698866
NM_000404.4(GLB1):c.390G>A (p.Trp130Ter)	SNV Germline	Chr3:33068826	Pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA351994488	rs_2125548643	2 SubmittersRCV002272949 RCV006558725
NM_000404.4(GLB1):c.569G>T (p.Gly190Val)	SNV Germline	Chr3:33058253	Likely pathogenic	Infantile GM1 gangliosidosis	Criteria Provided Single Submitter	CA352004852	rs_756575833	1 SubmittersRCV002291070
NM_000404.4(GLB1):c.1122T>A (p.Tyr374Ter)	SNV Unknown	Chr3:33024272	Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2	Criteria Provided Single Submitter	CA351995045	rs_1407133452	1 SubmittersRCV002307889
NM_000404.4(GLB1):c.1122T>G (p.Tyr374Ter)	SNV Germline	Chr3:33024272	Pathogenic	Infantile GM1 gangliosidosis	Criteria Provided Single Submitter	CA351995044	rs_1407133452	1 SubmittersRCV002510243
NM_000404.4(GLB1):c.938A>G (p.Asn313Ser)	SNV Germline	Chr3:33051775	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA2299554	rs_781080459	1 SubmittersRCV003061397
NM_000404.4(GLB1):c.1771T>C (p.Tyr591His)	SNV Germline	Chr3:32997308	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA2299298	rs_72555373	1 SubmittersRCV003079045
NM_000404.4(GLB1):c.482G>A (p.Trp161Ter)	SNV Germline	Chr3:33065533	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351992475	rs_768691348	1 SubmittersRCV003091081
NM_000404.4(GLB1):c.842A>G (p.His281Arg)	SNV Germline	Chr3:33051955	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B not specified	Criteria Provided Conflicting Classifications	CA352001486	rs_1198846361	2 SubmittersRCV002584751 RCV005406592
NM_000404.4(GLB1):c.1147A>T (p.Lys383Ter)	SNV Germline	Chr3:33021652	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3	Criteria Provided Multiple Submitters No Conflicts	CA351993468	rs_1559385963	2 SubmittersRCV003073540 RCV005028217
NM_000404.4(GLB1):c.955+5G>A	SNV Germline	Chr3:33051753	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA432959393	rs_1464136979	1 SubmittersRCV002606758
NM_000404.4(GLB1):c.2012A>G (p.Asp671Gly)	SNV Germline	Chr3:32997067	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA351999872	rs_1696330609	2 SubmittersRCV002623685 RCV004725551
NM_000404.4(GLB1):c.785G>T (p.Gly262Val)	SNV Germline	Chr3:33053498	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA352002570	rs_377174858	1 SubmittersRCV002651651
NM_000404.4(GLB1):c.785G>A (p.Gly262Glu)	SNV Germline	Chr3:33053498	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299600	rs_377174858	2 SubmittersRCV002651652 RCV005239709
NM_000404.4(GLB1):c.304C>G (p.His102Asp)	SNV Germline	Chr3:33068912	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA2299741	rs_769503425	1 SubmittersRCV002664299
NM_000404.4(GLB1):c.3G>A (p.Met1Ile)	SNV Germline	Chr3:33097083	Likely pathogenic	Infantile GM1 gangliosidosis GLB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2300148	rs_780109160	2 SubmittersRCV002571631 RCV005869853
NM_000404.4(GLB1):c.1347+1G>T	SNV Germline	Chr3:33018447	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA351991880	rs_757256051	2 SubmittersRCV002650519 RCV005034358
NM_000404.4(GLB1):c.905G>A (p.Ser302Asn)	SNV Germline	Chr3:33051892	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA352001192	rs_2125523018	2 SubmittersRCV002653974 RCV005854289
NM_000404.4(GLB1):c.937A>G (p.Asn313Asp)	SNV Germline	Chr3:33051776	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA352000973	rs_2471374147	1 SubmittersRCV002681511
NM_000404.4(GLB1):c.1667T>C (p.Phe556Ser)	SNV Germline	Chr3:33014123	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351984196	rs_2471248129	1 SubmittersRCV002710956
NM_000404.4(GLB1):c.1768C>G (p.Arg590Gly)	SNV Germline	Chr3:32997311	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B not specified	Criteria Provided Conflicting Classifications	CA352000785	rs_794727165	2 SubmittersRCV002861796 RCV006460273
NM_000404.4(GLB1):c.1498A>T (p.Thr500Ser)	SNV Germline	Chr3:33014292	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351986836	rs_72555368	1 SubmittersRCV002937708
NM_000404.4(GLB1):c.802G>C (p.Glu268Gln)	SNV Germline	Chr3:33051995	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA352001711	rs_2471375206	1 SubmittersRCV003005635
NM_000404.4(GLB1):c.932G>A (p.Gly311Glu)	SNV Germline	Chr3:33051781	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA352000994	rs_2471374173	1 SubmittersRCV003030175
NM_000404.4(GLB1):c.774T>A (p.Cys258Ter)	SNV Germline	Chr3:33053509	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA352002670	rs_2471380476	1 SubmittersRCV003036562
NM_000404.4(GLB1):c.733+6T>C	SNV Germline	Chr3:33058083	Pathogenic	GM1 gangliosidosis	Criteria Provided Single Submitter	CA2573050719	rs_2471397419	1 SubmittersRCV003225641
NM_000404.4(GLB1):c.130G>T (p.Asp44Tyr)	SNV Germline	Chr3:33072659	Likely pathogenic	Infantile GM1 gangliosidosis	Criteria Provided Single Submitter	CA351996852	rs_2471449533	1 SubmittersRCV003225699
NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)	SNV Germline	Chr3:33058260	Pathogenic	Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA352004906	rs_2471398259	2 SubmittersRCV003238167 RCV003779865
NM_000404.4(GLB1):c.1347+1G>A	SNV Germline	Chr3:33018447	Likely pathogenic	GLB1-related disorder	Criteria Provided Single Submitter	CA2299421	rs_757256051	1 SubmittersRCV003314170
NM_000404.4(GLB1):c.253C>T (p.Pro85Ser)	SNV Germline	Chr3:33068963	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351995529	rs_1575472038	1 SubmittersRCV003388961
NM_000404.4(GLB1):c.160A>G (p.Ser54Gly)	SNV Germline	Chr3:33072629	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351996548	rs_2471449387	1 SubmittersRCV003782234
NM_000404.4(GLB1):c.1234-1G>T	SNV Germline	Chr3:33018562	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA2299446	rs_778340733	1 SubmittersRCV003795989
NM_000404.4(GLB1):c.1728G>A (p.Trp576Ter)	SNV Germline	Chr3:33014062	Pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351983561	rs_2471247835	1 SubmittersRCV003781003
NM_000404.4(GLB1):c.1441G>T (p.Gly481Ter)	SNV Germline	Chr3:33016747	Pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351988841	rs_773868843	1 SubmittersRCV003781004
NM_000404.4(GLB1):c.1703A>G (p.Asp568Gly)	SNV Germline	Chr3:33014087	Pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351983734	rs_2471247981	1 SubmittersRCV003781368
NM_000404.4(GLB1):c.710A>G (p.Tyr237Cys)	SNV Germline	Chr3:33058112	Pathogenic/Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA352003955	rs_2471397544	2 SubmittersRCV003781369 RCV005030265
NM_000404.4(GLB1):c.550C>T (p.Gln184Ter)	SNV Germline	Chr3:33065465	Pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351991671	rs_2471424354	1 SubmittersRCV003781370
NM_000404.4(GLB1):c.517C>T (p.Leu173Phe)	SNV Germline	Chr3:33065498	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351992105	rs_1303774639	1 SubmittersRCV003792753
NM_000404.4(GLB1):c.443G>T (p.Arg148Leu)	SNV Germline	Chr3:33068244	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA351994053	rs_745864233	2 SubmittersRCV003793773 RCV005934915
NM_000404.4(GLB1):c.1060A>G (p.Ile354Val)	SNV Germline	Chr3:33046128	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351999176	rs_2471354173	1 SubmittersRCV003792482
NM_000404.4(GLB1):c.151A>C (p.Ile51Leu)	SNV Germline	Chr3:33072638	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351996638	rs_2471449415	1 SubmittersRCV003807997
NM_000404.4(GLB1):c.1256G>C (p.Arg419Pro)	SNV Germline	Chr3:33018539	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351992532	rs_780634117	1 SubmittersRCV003807999
NM_000404.4(GLB1):c.552+1G>A	SNV Germline	Chr3:33065462	Pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351991646	rs_2471424350	1 SubmittersRCV003808084
NM_000404.4(GLB1):c.765G>T (p.Gln255His)	SNV Germline	Chr3:33053518	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA352002730	rs_1553610553	1 SubmittersRCV003806469
NM_000404.4(GLB1):c.148T>C (p.Tyr50His)	SNV Germline	Chr3:33072641	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351996665	rs_2471449428	1 SubmittersRCV003791489
NM_000404.4(GLB1):c.572G>C (p.Ser191Thr)	SNV Germline	Chr3:33058250	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B not specified	Criteria Provided Conflicting Classifications	CA352004833	rs_1553611055	2 SubmittersRCV003803769 RCV005407256
NM_000404.4(GLB1):c.1660G>A (p.Gly554Arg)	SNV Germline	Chr3:33014130	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351984319	rs_2471248154	1 SubmittersRCV003799685
NM_000404.4(GLB1):c.915-2A>G	SNV Germline	Chr3:33051800	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA352001103	rs_2471374263	1 SubmittersRCV003805324
NM_000404.4(GLB1):c.76-1G>T	SNV Germline	Chr3:33072714	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351997123	rs_2471449819	1 SubmittersRCV003809100
NM_000404.4(GLB1):c.1742T>G (p.Val581Gly)	SNV Germline	Chr3:32997337	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA352000843	rs_2471199391	1 SubmittersRCV003802311
NM_000404.4(GLB1):c.1231C>T (p.Gln411Ter)	SNV Germline	Chr3:33021568	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351992816	rs_2471270710	1 SubmittersRCV003809898
NM_000404.4(GLB1):c.1582G>T (p.Gly528Ter)	SNV Germline	Chr3:33014208	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351986062	rs_2471248619	1 SubmittersRCV003813320
NM_000404.4(GLB1):c.520T>G (p.Tyr174Asp)	SNV Germline	Chr3:33065495	Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA351992091	rs_2471424489	1 SubmittersRCV003807600
NM_000404.4(GLB1):c.572G>T (p.Ser191Ile)	SNV Germline	Chr3:33058250	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA352004830	rs_1553611055	1 SubmittersRCV003812786
NM_000404.4(GLB1):c.971A>C (p.Tyr324Ser)	SNV Germline	Chr3:33046217	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351999476	rs_977975596	1 SubmittersRCV003805041
NM_000404.4(GLB1):c.146G>C (p.Arg49Pro)	SNV Germline	Chr3:33072643	Likely pathogenic	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts		rs_780523881	2 SubmittersRCV005023593 RCV004586250
NM_000404.4(GLB1):c.1823T>C (p.Leu608Pro)	SNV Germline	Chr3:32997256	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004699771 RCV005023646
NM_000404.4(GLB1):c.1471G>T (p.Asp491Tyr)	SNV Germline	Chr3:33016717	Likely pathogenic	GM1 gangliosidosis GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004699962 RCV005023649
NM_000404.4(GLB1):c.914+4A>G	SNV Germline	Chr3:33051879	Likely pathogenic	GM1 gangliosidosis	Criteria Provided Single Submitter			1 SubmittersRCV004799114
NM_000404.4(GLB1):c.1792C>T (p.Gln598Ter)	SNV Germline	Chr3:32997287	Likely pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005024592
NM_000404.4(GLB1):c.462C>G (p.Tyr154Ter)	SNV Germline	Chr3:33065553	Likely pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005024598
NM_000404.4(GLB1):c.289C>T (p.Gln97Ter)	SNV Germline	Chr3:33068927	Likely pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005024600
NM_000404.4(GLB1):c.288C>G (p.Tyr96Ter)	SNV Germline	Chr3:33068928	Likely pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005024601
NM_000404.4(GLB1):c.275G>A (p.Trp92Ter)	SNV Germline	Chr3:33068941	Pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005035308
NM_000404.4(GLB1):c.1063C>T (p.Gln355Ter)	SNV Germline	Chr3:33046125	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter			1 SubmittersRCV005213711
NM_000404.4(GLB1):c.718G>A (p.Val240Met)	SNV Germline	Chr3:33058104	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter			1 SubmittersRCV005228511
NM_000404.4(GLB1):c.452A>T (p.Asp151Val)	SNV Germline	Chr3:33068235	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005228512 RCV006456015
NM_000404.4(GLB1):c.400G>A (p.Gly134Arg)	SNV Germline	Chr3:33068287	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter			1 SubmittersRCV005228513
NM_000404.4(GLB1):c.1313G>T (p.Gly438Val)	SNV Germline	Chr3:33018482	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter			1 SubmittersRCV005212014
NM_000404.4(GLB1):c.835C>T (p.Gln279Ter)	SNV Germline	Chr3:33051962	Pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter			1 SubmittersRCV005224097
NM_000404.4(GLB1):c.521A>G (p.Tyr174Cys)	SNV Germline	Chr3:33065494	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter			1 SubmittersRCV005226609
NM_000404.4(GLB1):c.1143+1G>T	SNV Germline	Chr3:33024250	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter			1 SubmittersRCV005222162
NM_000404.4(GLB1):c.955+2T>A	SNV Germline	Chr3:33051756	Pathogenic	GLB1-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV005233538
NM_000404.4(GLB1):c.859G>T (p.Glu287Ter)	SNV Germline	Chr3:33051938	Likely pathogenic	GM1 gangliosidosis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005233239
NM_000404.4(GLB1):c.787C>T (p.Pro263Ser)	SNV Germline	Chr3:33053496	Likely pathogenic	GM1 gangliosidosis	Criteria Provided Single Submitter			1 SubmittersRCV005240065
NM_000404.4(GLB1):c.1736G>A (p.Gly579Asp)	SNV Germline	Chr3:32997343	Pathogenic	GM1 gangliosidosis	Criteria Provided Single Submitter			1 SubmittersRCV005409155
NM_000404.4(GLB1):c.520T>C (p.Tyr174His)	SNV Germline	Chr3:33065495	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter			1 SubmittersRCV005418810
NM_000404.4(GLB1):c.203G>C (p.Arg68Pro)	SNV Germline	Chr3:33072586	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005636440
NM_000404.4(GLB1):c.1480-1G>C	SNV Germline	Chr3:33014311	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005635899
NM_000404.4(GLB1):c.370C>T (p.Pro124Ser)	SNV Germline	Chr3:33068846	Likely pathogenic	GM1 gangliosidosis	Criteria Provided Single Submitter			1 SubmittersRCV006258109
NM_000404.4(GLB1):c.485T>C (p.Leu162Ser)	SNV Germline	Chr3:33065530	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter			1 SubmittersRCV006453218
NM_000404.4(GLB1):c.1313G>C (p.Gly438Ala)	SNV Germline	Chr3:33018482	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter			1 SubmittersRCV006599766

SNV
Germline

Chr3:33072644

Conflicting classifications of pathogenicity

Infantile GM1 gangliosidosis
Condition: not provided
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Conflicting Classifications

CA114628

rs_72555358

6 SubmittersRCV000000971 RCV000175599 RCV000672371 RCV000707313 RCV001778644

NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)

SNV
Germline

Chr3:33016819

Pathogenic

Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis
Condition: not provided
GM1 gangliosidosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA114630

rs_72555359

9 SubmittersRCV000000972 RCV000667074 RCV001058421 RCV001174734 RCV001781153 RCV005208117

NM_000404.4(GLB1):c.601C>T (p.Arg201Cys)

SNV
Germline

Chr3:33058221

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 2
Condition: not provided
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GLB1-related disorder
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA114632

rs_72555360

14 SubmittersRCV000000973 RCV000256168 RCV000410436 RCV000411359 RCV000269582 RCV000411949 RCV001208622 RCV004737133 RCV005024979

NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)

SNV
Germline

Chr3:33072637

Pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA114634

rs_72555390

5 SubmittersRCV000000974 RCV000671053 RCV001582457 RCV001851520 RCV004799723

NM_000404.4(GLB1):c.367G>A (p.Gly123Arg)

SNV
Germline

Chr3:33068849

Pathogenic

Infantile GM1 gangliosidosis
Condition: not provided
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA114636

rs_28934274

4 SubmittersRCV000000976 RCV000428850 RCV001217770 RCV004799724

NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys)

SNV
Germline

Chr3:33051766

Pathogenic/Likely pathogenic

Infantile GM1 gangliosidosis
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B

No Assertion Criteria Provided

CA114638

rs_72555361

2 SubmittersRCV000000977 RCV000673295

NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln)

SNV
Germline

Chr3:33016818

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA114640

rs_28934886

4 SubmittersRCV000000978 RCV001378633 RCV001810396 RCV002281684

NM_000404.4(GLB1):c.818G>T (p.Trp273Leu)

SNV
Germline

Chr3:33051979

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis

Criteria Provided
Single Submitter

CA114642

rs_72555362

2 SubmittersRCV000000979 RCV004566665

NM_000404.4(GLB1):c.1445G>A (p.Arg482His)

SNV
Germline

Chr3:33016743

Pathogenic

Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Condition: not provided
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA114644

rs_72555391

8 SubmittersRCV000000981 RCV000119099 RCV000174679 RCV000586055 RCV001034863 RCV002476905

NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys)

SNV
Germline

Chr3:33014263

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA114646

rs_72555363

3 SubmittersRCV000000982 RCV003764504

NM_000404.4(GLB1):c.245C>T (p.Thr82Met)

SNV
Germline

Chr3:33072544

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 3
Inborn genetic diseases
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Condition: not provided
Infantile GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA114649

rs_72555393

7 SubmittersRCV000000984 RCV000624609 RCV000669063 RCV001068811 RCV001559063 RCV004546408

NM_000404.4(GLB1):c.247T>C (p.Tyr83His)

SNV
Germline

Chr3:33068969

Pathogenic

Mucopolysaccharidosis, MPS-IV-B

No Assertion Criteria Provided

CA114652

rs_72555364

1 SubmittersRCV000000986

NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)

SNV
Germline

Chr3:33016744

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA156185

rs_72555365

4 SubmittersRCV000119100 RCV000665872 RCV001376852

NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)

SNV
Germline

Chr3:33058200

Pathogenic

Infantile GM1 gangliosidosis
Condition: not provided
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Inborn genetic diseases
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA114654

rs_72555366

10 SubmittersRCV000000988 RCV000179306 RCV000586182 RCV000633470 RCV000984269 RCV000984270 RCV000984271 RCV002512629 RCV005024980

NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)

SNV
Germline

Chr3:33018482

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Condition: not provided
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Spondyloepiphyseal dysplasia
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA114656

rs_72555367

8 SubmittersRCV000000989 RCV000850556 RCV001091796 RCV001382999 RCV001843450 RCV005237344

NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)

SNV
Germline

Chr3:33046137

Pathogenic

GM1-gangliosidosis, type I, with cardiac involvement
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Infantile GM1 gangliosidosis
Spastic ataxia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114658

rs_72555372

10 SubmittersRCV000000990 RCV000665526 RCV000780302 RCV001223149 RCV001331201 RCV001642195 RCV002225254

NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)

SNV
Germline

Chr3:33014292

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Condition: not provided
GM1 gangliosidosis
GM1 gangliosidosis type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA114660

rs_72555368

6 SubmittersRCV000000991 RCV000673423 RCV001040694 RCV001818116 RCV002281685 RCV003137481

NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro)

SNV
Germline

Chr3:33021576

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B

No Assertion Criteria Provided

CA114662

rs_72555369

2 SubmittersRCV000000992 RCV000667601

NM_000404.4(GLB1):c.202C>T (p.Arg68Trp)

SNV
Germline

Chr3:33072587

Pathogenic

GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Condition: not provided
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA114664

rs_72555370

6 SubmittersRCV000000993 RCV000760159 RCV001235447 RCV004589492 RCV005430910 RCV005031376

NM_000404.4(GLB1):c.176G>A (p.Arg59His)

SNV
Germline/somatic

Chr3:33072613

Pathogenic/Likely pathogenic

Infantile GM1 gangliosidosis
GM1-gangliosidosis, type I, with cardiac involvement
GM1 gangliosidosis type 2
Condition: not provided
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GLB1-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA114666

rs_72555392

21 SubmittersRCV000000995 RCV000000994 RCV000059350 RCV000078708 RCV000175600 RCV000778693 RCV000850557 RCV000984179 RCV000811276 RCV004545719 RCV004018531

NM_000404.4(GLB1):c.1480-2A>G

SNV
Germline

Chr3:33014312

Pathogenic

GM1-gangliosidosis, type I, with cardiac involvement
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis
Condition: not provided
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Uveal melanoma

Criteria Provided
Multiple Submitters
No Conflicts

CA114668

rs_587776526

8 SubmittersRCV000000996 RCV000790562 RCV001049270 RCV001251276 RCV002243610 RCV002470702 RCV002496221 RCV005887149

NM_000404.4(GLB1):c.1771T>A (p.Tyr591Asn)

SNV
Germline

Chr3:32997308

Pathogenic

GM1-gangliosidosis, type I, with cardiac involvement

No Assertion Criteria Provided

CA114669

rs_72555373

1 SubmittersRCV000000997

NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)

SNV
Germline

Chr3:32997307

Pathogenic/Likely pathogenic

GM1-gangliosidosis, type I, with cardiac involvement
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA114671

rs_72555371

4 SubmittersRCV000000998 RCV000673090 RCV003764505 RCV005252653

NM_000404.4(GLB1):c.319T>C (p.Phe107Leu)

SNV
Germline

Chr3:33068897

Likely pathogenic

GM1 gangliosidosis type 2
Inborn genetic diseases
GM1 gangliosidosis
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA145198

rs_397515616

5 SubmittersRCV000059351 RCV000623339 RCV004586535 RCV003764741 RCV005031548

NM_000404.4(GLB1):c.518T>C (p.Leu173Pro)

SNV
Germline/somatic

Chr3:33065497

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 2
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA145200

rs_397515617

3 SubmittersRCV000059352 RCV000541694 RCV005031549

NM_000404.4(GLB1):c.1004C>T (p.Ala335Val)

SNV
Germline

Chr3:33046184

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA200673

rs_398123347

1 SubmittersRCV000173683

NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)

SNV
Germline

Chr3:33018485

Pathogenic/Likely pathogenic

Condition: not provided
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA201009

rs_202237232

3 SubmittersRCV000174475 RCV000668735 RCV001854385

NM_000404.4(GLB1):c.1426C>T (p.Leu476=)

SNV
Germline

Chr3:33016762

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GLB1-related disorder

Criteria Provided
Conflicting Classifications

CA220717

rs_113534264

5 SubmittersRCV000078703 RCV000327956 RCV000382510 RCV001082369 RCV001449934 RCV004537310

NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)

SNV
Germline

Chr3:33072618

Pathogenic

GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Condition: not provided
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA201540

rs_398123350

7 SubmittersRCV000671504 RCV000675686 RCV002513824 RCV005859496 RCV003987350

NM_000404.4(GLB1):c.1769G>A (p.Arg590His)

SNV
Germline

Chr3:32997310

Pathogenic/Likely pathogenic

Condition: not provided
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Progressive familial intrahepatic cholestasis
GM1 gangliosidosis
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA201251

rs_398123351

7 SubmittersRCV000174999 RCV000794211 RCV001804833 RCV001810420 RCV004542752 RCV004526614 RCV005025132

NM_000404.4(GLB1):c.397-1G>A

SNV
Germline

Chr3:33068291

Pathogenic

Condition: not provided
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA202709

rs_398123353

4 SubmittersRCV000178086 RCV000667741 RCV001211514

NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)

SNV
Germline

Chr3:33068245

Pathogenic/Likely pathogenic

Condition: not provided
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA202711

rs_192732174

12 SubmittersRCV000178094 RCV000666298 RCV000778692 RCV000818014 RCV001331203

NM_000404.4(GLB1):c.457+2T>C

SNV
Germline

Chr3:33068228

Pathogenic/Likely pathogenic

Condition: not provided
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA202710

rs_398123354

2 SubmittersRCV000178088 RCV003764757

NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)

SNV
Germline

Chr3:33065534

Conflicting classifications of pathogenicity

Condition: not provided
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Conflicting Classifications

CA220721

rs_398123355

5 SubmittersRCV000078717 RCV000673411 RCV001378119 RCV001175293

NM_000404.4(GLB1):c.734-8A>G

SNV
Germline

Chr3:33053557

Conflicting classifications of pathogenicity

Condition: not provided
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis
Lung cancer
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Conflicting Classifications

CA220723

rs_398123357

5 SubmittersRCV000078720 RCV000669168 RCV002508193 RCV005886217 RCV006456679

NM_000404.4(GLB1):c.75+1G>C

SNV
Germline

Chr3:33097010

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA200306

rs_398123358

3 SubmittersRCV000173120 RCV006362054 RCV006555421

NM_000404.4(GLB1):c.922T>C (p.Phe308Leu)

SNV
Germline

Chr3:33051791

Pathogenic

Infantile GM1 gangliosidosis

No Assertion Criteria Provided

CA150630

rs_587779404

1 SubmittersRCV000087093

NM_000404.4(GLB1):c.901G>A (p.Ala301Thr)

SNV
Germline

Chr3:33051896

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA203577

rs_727503954

1 SubmittersRCV000180156

NM_000404.4(GLB1):c.1A>C (p.Met1Leu)

SNV
Germline

Chr3:33097085

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA200308

rs_794726886

1 SubmittersRCV000173126

NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)

SNV
Germline

Chr3:32997311

Pathogenic

Infantile GM1 gangliosidosis
Condition: not provided
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GLB1-related disorder
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA201253

rs_794727165

7 SubmittersRCV000175003 RCV000175004 RCV000703485 RCV003221293 RCV003387787 RCV004798797

NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)

SNV
Germline

Chr3:33072586

Pathogenic/Likely pathogenic

Condition: not provided
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA201542

rs_572237881

6 SubmittersRCV000175606 RCV000673880 RCV001201192 RCV001852152

NM_000404.4(GLB1):c.602G>A (p.Arg201His)

SNV
Germline

Chr3:33058220

Pathogenic/Likely pathogenic

Condition: not provided
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA203223

rs_189115557

16 SubmittersRCV000255006 RCV000309607 RCV000665698 RCV000995553 RCV000818052 RCV002500509 RCV002286710

NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)

SNV
Germline

Chr3:33051988

Conflicting classifications of pathogenicity

Condition: not provided
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
not specified
GM1 gangliosidosis

Criteria Provided
Conflicting Classifications

CA203575

rs_371546950

4 SubmittersRCV000180154 RCV001852241 RCV003155108 RCV006555043

NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)

SNV
Germline

Chr3:33018510

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351471

rs_180869784

3 SubmittersRCV000537911 RCV000673241 RCV003482247

NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)

SNV
Germline

Chr3:33068940

Pathogenic

GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
Condition: not provided
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA2299743

rs_748830051

6 SubmittersRCV000670448 RCV000766231 RCV001091797 RCV001387511 RCV005869188

NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)

SNV
Germline

Chr3:33014057

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA2299321

rs_371582179

9 SubmittersRCV000239412 RCV000665995 RCV001061617 RCV001192992 RCV001200664 RCV002518537

NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)

SNV
Germline

Chr3:33065551

Pathogenic

Condition: not provided
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10588356

rs_376710410

6 SubmittersRCV000256106 RCV000665871 RCV000809706 RCV000984003 RCV001175291

NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)

SNV
Germline

Chr3:33051989

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GLB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2299582

rs_376663785

10 SubmittersRCV000394616 RCV000623067 RCV000666452 RCV000689244 RCV000780303 RCV004545765

NM_000404.4(GLB1):c.*319G>A

SNV
Germline

Chr3:32996726

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10615627

rs_139730198

3 SubmittersRCV000263456 RCV000318566 RCV003430878

NM_000404.4(GLB1):c.1530G>A (p.Thr510=)

SNV
Germline

Chr3:33014260

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Conflicting Classifications

CA2299365

rs_191203702

2 SubmittersRCV000316174 RCV000361475 RCV000874904

NM_000404.4(GLB1):c.1480-8C>G

SNV
Germline

Chr3:33014318

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Conflicting Classifications

CA2299376

rs_753129246

2 SubmittersRCV000291569 RCV000376709 RCV000875356

NM_000404.4(GLB1):c.-25C>G

SNV
Germline

Chr3:33097110

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2300152

rs_368944274

3 SubmittersRCV000270068 RCV000313297 RCV004694734

NM_000404.4(GLB1):c.1347+10G>A

SNV
Germline

Chr3:33018438

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GLB1-related disorder

Criteria Provided
Conflicting Classifications

CA2299419

rs_199538100

3 SubmittersRCV000288195 RCV000352478 RCV000877602 RCV004530391

NM_000404.4(GLB1):c.234C>T (p.Asn78=)

SNV
Germline

Chr3:33072555

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Conflicting Classifications

CA2299767

rs_368796666

2 SubmittersRCV000279897 RCV000341987 RCV000875466

NM_000404.4(GLB1):c.1529C>T (p.Thr510Met)

SNV
Germline

Chr3:33014261

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2299366

rs_1803198

3 SubmittersRCV000266743 RCV000321882 RCV001431859 RCV003343791

NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)

SNV
Germline

Chr3:33018452

Pathogenic/Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Infantile GM1 gangliosidosis
GLB1-related disorder
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA2299424

rs_757926581

7 SubmittersRCV000292413 RCV000675170 RCV001382666 RCV001584055 RCV005869335 RCV005027449

NM_000404.4(GLB1):c.1234-11T>A

SNV
Germline

Chr3:33018572

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Chronic lymphocytic leukemia/small lymphocytic lymphoma

Criteria Provided
Conflicting Classifications

CA2299450

rs_145674318

3 SubmittersRCV000349673 RCV000408323 RCV002520118 RCV005897659

NM_000404.4(GLB1):c.1032T>C (p.Thr344=)

SNV
Germline

Chr3:33046156

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2299521

rs_199927127

3 SubmittersRCV000303902 RCV000403633 RCV000876887 RCV003333979

NM_000404.4(GLB1):c.841C>T (p.His281Tyr)

SNV
Germline

Chr3:33051956

Pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GLB1-related disorder
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
Lysosomal storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA2299580

rs_745386663

8 SubmittersRCV000413217 RCV000662341 RCV000805468 RCV004737460 RCV005410898 RCV006252565

NM_000404.4(GLB1):c.396+2T>C

SNV
Germline

Chr3:33068818

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16042439

rs_1057517738

3 SubmittersRCV000414347 RCV003766144 RCV005900660

NM_000404.4(GLB1):c.1696C>T (p.Pro566Ser)

SNV
Germline

Chr3:33014094

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16604872

rs_1057524868

1 SubmittersRCV000422841

NM_000404.4(GLB1):c.902C>T (p.Ala301Val)

SNV
Germline

Chr3:33051895

Pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis
GLB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2299570

rs_750531880

6 SubmittersRCV000418628 RCV000670128 RCV001244569 RCV003330669 RCV004532999

NM_000404.4(GLB1):c.245+1G>A

SNV
Germline

Chr3:33072543

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis
Condition: not provided
Colon adenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA2299763

rs_778423653

7 SubmittersRCV000477865 RCV000685614 RCV001175540 RCV004591410 RCV005899616

NM_000404.4(GLB1):c.31C>G (p.Leu11Val)

SNV
Germline

Chr3:33097055

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Infantile GM1 gangliosidosis
GLB1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2300136

rs_77988381

5 SubmittersRCV000488298 RCV001089162 RCV001335294 RCV004541535 RCV005407147

NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)

SNV
Germline

Chr3:33014144

Pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2299335

rs_776327443

6 SubmittersRCV000490151 RCV000666099 RCV000811767 RCV002286741

NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)

SNV
Germline

Chr3:33014202

Conflicting classifications of pathogenicity

Condition: not provided
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GLB1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2299352

rs_371397760

5 SubmittersRCV000522107 RCV000765726 RCV001079383 RCV004537876 RCV005572327

NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)

SNV
Germline

Chr3:33072614

Pathogenic

Condition: not provided
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Infantile GM1 gangliosidosis
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2299775

rs_756878418

10 SubmittersRCV000597388 RCV000669165 RCV000987141 RCV001050379 RCV002245028 RCV005240291

NM_000404.4(GLB1):c.146G>A (p.Arg49His)

SNV
Germline

Chr3:33072643

Pathogenic/Likely pathogenic

Inborn genetic diseases
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2299779

rs_780523881

5 SubmittersRCV000624583 RCV000672724 RCV001057694 RCV003238787

NM_000404.4(GLB1):c.439C>T (p.Leu147Phe)

SNV
Germline

Chr3:33068248

Likely pathogenic

Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA351994074

rs_1553612143

2 SubmittersRCV000625810 RCV002295308

NM_000404.4(GLB1):c.443G>A (p.Arg148His)

SNV
Germline

Chr3:33068244

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2299702

rs_745864233

3 SubmittersRCV000626074 RCV000763097 RCV001855325

NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)

SNV
Germline

Chr3:33018470

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Condition: not provided
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GLB1-related disorder
GM1 gangliosidosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA2299427

rs_564428355

8 SubmittersRCV000633471 RCV000666461 RCV001568844 RCV003338697 RCV005431826 RCV004737910 RCV005208144

NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter)

SNV
Germline

Chr3:33014076

Pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA72646038

rs_1803200

2 SubmittersRCV000672277 RCV002531313

NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys)

SNV
Germline

Chr3:33016734

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA351988716

rs_1553606400

3 SubmittersRCV000671173 RCV001855552 RCV006452823

NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)

SNV
Germline

Chr3:33018474

Pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2299428

rs_780724173

3 SubmittersRCV000666573 RCV001049111 RCV005639180

NM_000404.4(GLB1):c.1144-2A>G

SNV
Germline

Chr3:33021657

Pathogenic/Likely pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA351993514

rs_1553607014

3 SubmittersRCV000673337 RCV001071947 RCV003387908

NM_000404.4(GLB1):c.733+1G>A

SNV
Germline

Chr3:33058088

Pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA72670617

rs_1041204916

3 SubmittersRCV000668507 RCV001203710 RCV001784254

NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)

SNV
Germline

Chr3:33058250

Pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA352004835

rs_1553611055

2 SubmittersRCV000664551 RCV002530631

NM_000404.4(GLB1):c.552+2T>C

SNV
Germline

Chr3:33065461

Likely pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351991628

rs_1553611778

2 SubmittersRCV000669176 RCV002532083

NM_000404.4(GLB1):c.401G>T (p.Gly134Val)

SNV
Germline

Chr3:33068286

Pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA2299710

rs_773562141

2 SubmittersRCV000672112 RCV002531304

NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys)

SNV
Germline

Chr3:33068968

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA351995593

rs_1553612220

3 SubmittersRCV000671078 RCV003767991 RCV005240435

NM_000404.4(GLB1):c.152T>A (p.Ile51Asn)

SNV
Germline

Chr3:33072637

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA351996616

rs_72555390

3 SubmittersRCV000670208 RCV003767982 RCV005901479

NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)

SNV
Germline

Chr3:32997311

Likely pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA352000786

rs_794727165

2 SubmittersRCV000666546 RCV002530688

NM_000404.4(GLB1):c.1481G>T (p.Gly494Val)

SNV
Germline

Chr3:33014309

Pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA2299373

rs_202007119

2 SubmittersRCV000664835 RCV005223104

NM_000404.4(GLB1):c.245+1G>C

SNV
Germline

Chr3:33072543

Pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA72673151

rs_778423653

2 SubmittersRCV000670410 RCV002531251

NM_000404.4(GLB1):c.1479+1G>A

SNV
Germline

Chr3:33016708

Pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Condition: not provided
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA72648572

rs_1022476871

3 SubmittersRCV000673840 RCV000731323 RCV001389790

NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)

SNV
Germline

Chr3:33016736

Pathogenic/Likely pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA72648584

rs_968221254

3 SubmittersRCV000668974 RCV001379670

NM_000404.4(GLB1):c.1233+1G>A

SNV
Germline

Chr3:33021565

Pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GLB1-related disorder

Criteria Provided
Single Submitter

CA351992810

rs_1553606984

3 SubmittersRCV000672279 RCV001855576 RCV004723054

NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)

SNV
Germline

Chr3:33046150

Pathogenic/Likely pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2299520

rs_749980306

3 SubmittersRCV000674446 RCV001855609 RCV002271564

NM_000404.4(GLB1):c.765G>C (p.Gln255His)

SNV
Germline

Chr3:33053518

Likely pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA352002733

rs_1553610553

2 SubmittersRCV000670551 RCV003767987

NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)

SNV
Germline

Chr3:32997333

Pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2299300

rs_778375259

3 SubmittersRCV000673883 RCV001855604 RCV003236832

NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter)

SNV
Unknown

Chr3:33014181

Likely pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B

No Assertion Criteria Provided

CA351985769

rs_1553606091

1 SubmittersRCV000667717

NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn)

SNV
Germline

Chr3:33016717

Conflicting classifications of pathogenicity

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis

Criteria Provided
Conflicting Classifications

CA2299384

rs_780232995

4 SubmittersRCV000674513 RCV001868281 RCV002289953 RCV006463860

NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)

SNV
Germline

Chr3:33068245

Pathogenic/Likely pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Condition: not provided
GM1 gangliosidosis
GLB1-related disorder
Lung cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA2299703

rs_192732174

10 SubmittersRCV000666897 RCV001055679 RCV000727559 RCV001175301 RCV004533467 RCV005901453

NM_000404.4(GLB1):c.1438A>G (p.Met480Val)

SNV
Germline

Chr3:33016750

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Condition: not provided
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA351988871

rs_1280400930

4 SubmittersRCV000669124 RCV003238800 RCV004689842

NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)

SNV
Germline

Chr3:33018485

Conflicting classifications of pathogenicity

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
not specified
GLB1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2299431

rs_202237232

6 SubmittersRCV000669669 RCV000874342 RCV001150121 RCV001150120 RCV002222593 RCV004535685 RCV006448562

NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)

SNV
Germline

Chr3:33046150

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Condition: not provided
Infantile GM1 gangliosidosis
GLB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA351999266

rs_749980306

5 SubmittersRCV000665726 RCV000821368 RCV005632590 RCV006459781 RCV005870749

NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)

SNV
Germline

Chr3:33046217

Conflicting classifications of pathogenicity

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
not specified

Criteria Provided
Conflicting Classifications

CA351999477

rs_977975596

3 SubmittersRCV000672690 RCV003767999 RCV006268940

NM_000404.4(GLB1):c.523C>T (p.Gln175Ter)

SNV
Unknown

Chr3:33065492

Likely pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B

No Assertion Criteria Provided

CA351992067

rs_1553611789

1 SubmittersRCV000666243

NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)

SNV
Germline

Chr3:33068241

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GLB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2299701

rs_778700089

5 SubmittersRCV000668601 RCV000679994 RCV001228044 RCV005407863 RCV005632602

NM_000404.4(GLB1):c.395T>C (p.Met132Thr)

SNV
Germline

Chr3:33068821

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA351994450

rs_1553612189

3 SubmittersRCV000672923 RCV001731879 RCV002249399

NM_000404.4(GLB1):c.335A>C (p.His112Pro)

SNV
Germline

Chr3:33068881

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2299736

rs_753965226

3 SubmittersRCV000670769 RCV002531261 RCV005056415

NM_000404.4(GLB1):c.623G>A (p.Arg208His)

SNV
Germline

Chr3:33058199

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis
Condition: not provided
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Conflicting Classifications

CA2299644

rs_111840209

6 SubmittersRCV000876207 RCV001148903 RCV001354677 RCV001145887

NM_000404.4(GLB1):c.1697C>A (p.Pro566His)

SNV
Germline

Chr3:33014093

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351983787

rs_1575410340

1 SubmittersRCV000799151

NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn)

SNV
Germline

Chr3:33016709

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Infantile GM1 gangliosidosis
not specified

Criteria Provided
Conflicting Classifications

CA351988441

rs_1172435886

4 SubmittersRCV000810175 RCV005208150 RCV006265295

NM_000404.4(GLB1):c.827A>C (p.His276Pro)

SNV
Germline

Chr3:33051970

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA352001574

rs_1559401406

1 SubmittersRCV000820882

NM_000404.4(GLB1):c.553-1G>C

SNV
Germline

Chr3:33058270

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA352004996

rs_1575459735

1 SubmittersRCV000791815

NM_000404.4(GLB1):c.1601A>G (p.His534Arg)

SNV
Germline

Chr3:33014189

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2299349

rs_770982909

3 SubmittersRCV000950982 RCV001143887 RCV001143888 RCV004029814

NM_000404.4(GLB1):c.534G>A (p.Gly178=)

SNV
Germline

Chr3:33065481

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA72668868

rs_928862880

3 SubmittersRCV000972042 RCV001148906 RCV001148907 RCV004973213

NM_000404.4(GLB1):c.2016A>G (p.Ser672=)

SNV
Germline

Chr3:32997063

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2299254

rs_756403702

4 SubmittersRCV000908403 RCV001150009 RCV001150010 RCV001563857 RCV001563856 RCV001563858 RCV003438575

NM_000404.4(GLB1):c.950G>A (p.Trp317Ter)

SNV
Germline

Chr3:33051763

Likely pathogenic

Infantile GM1 gangliosidosis

No Assertion Criteria Provided

CA352000899

rs_1575451526

1 SubmittersRCV000985131

NM_000404.4(GLB1):c.385G>C (p.Glu129Gln)

SNV
Germline

Chr3:33068831

Likely pathogenic

Infantile GM1 gangliosidosis

Criteria Provided
Single Submitter

CA72670809

rs_886042079

1 SubmittersRCV000984877

NM_000404.4(GLB1):c.921G>A (p.Met307Ile)

SNV
Germline

Chr3:33051792

Conflicting classifications of pathogenicity

Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA352001054

rs_1575451599

2 SubmittersRCV000998015 RCV004797888

NM_000404.4(GLB1):c.716C>T (p.Thr239Met)

SNV
Germline

Chr3:33058106

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Condition: not provided
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2299627

rs_746766232

7 SubmittersRCV000995552 RCV001331204 RCV001378118 RCV002279689 RCV005036266 RCV004702562

NM_000404.4(GLB1):c.407C>T (p.Pro136Leu)

SNV
Germline

Chr3:33068280

Likely pathogenic

Infantile GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351994262

rs_1575471281

1 SubmittersRCV001009625

NM_000404.4(GLB1):c.1318C>T (p.His440Tyr)

SNV
Germline

Chr3:33018477

Pathogenic

Infantile GM1 gangliosidosis

No Assertion Criteria Provided

CA351992123

rs_1575414831

1 SubmittersRCV001027535

NM_000404.4(GLB1):c.1286C>T (p.Pro429Leu)

SNV
Germline

Chr3:33018509

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2299435

rs_201148460

2 SubmittersRCV001041301 RCV004031244

NM_000404.4(GLB1):c.931G>A (p.Gly311Arg)

SNV
Germline

Chr3:33051782

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA2299555

rs_368568171

3 SubmittersRCV001059700 RCV001175304 RCV005029643

NM_000404.4(GLB1):c.416T>A (p.Leu139Gln)

SNV
Germline

Chr3:33068271

Likely pathogenic

Infantile GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351994216

rs_1699766499

1 SubmittersRCV001261541

NM_000404.4(GLB1):c.1095C>T (p.Ile365=)

SNV
Germline

Chr3:33024299

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GLB1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2299502

rs_200762972

4 SubmittersRCV001143989 RCV001143990 RCV001506617 RCV004538366 RCV003438677

NM_000404.4(GLB1):c.711C>T (p.Tyr237=)

SNV
Germline

Chr3:33058111

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Conflicting Classifications

CA2299629

rs_757982518

2 SubmittersRCV001145886 RCV001145885 RCV001406952

NM_000404.4(GLB1):c.-48G>C

SNV
Germline

Chr3:33097133

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Conflicting Classifications

CA2300160

rs_529551028

1 SubmittersRCV001149030 RCV001149031

NM_000404.4(GLB1):c.1479+11C>T

SNV
Germline

Chr3:33016698

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Conflicting Classifications

CA2299383

rs_369789589

2 SubmittersRCV001148552 RCV001148553 RCV002070801

NM_000404.4(GLB1):c.1348-7C>T

SNV
Germline

Chr3:33016847

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Conflicting Classifications

CA72648786

rs_774732235

2 SubmittersRCV001148554 RCV001148555 RCV001501788

NM_000404.4(GLB1):c.1069-4A>G

SNV
Germline

Chr3:33024329

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Conflicting Classifications

CA2299508

rs_781267265

2 SubmittersRCV001143991 RCV001143992 RCV001414861

NM_000404.4(GLB1):c.958G>A (p.Ala320Thr)

SNV
Germline

Chr3:33046230

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351999506

rs_1698735097

1 SubmittersRCV001171832

NM_000404.4(GLB1):c.149A>G (p.Tyr50Cys)

SNV
Germline

Chr3:33072640

Pathogenic/Likely pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA351996650

rs_1207569870

3 SubmittersRCV001175103 RCV001384625 RCV005432601

NM_000404.4(GLB1):c.574T>C (p.Tyr192His)

SNV
Germline

Chr3:33058248

Conflicting classifications of pathogenicity

GM1 gangliosidosis
not specified
GLB1-related disorder

Criteria Provided
Conflicting Classifications

CA352004817

rs_1408171481

3 SubmittersRCV001175302 RCV005056990 RCV005866819

NM_000404.4(GLB1):c.380G>A (p.Cys127Tyr)

SNV
Germline

Chr3:33068836

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351994545

rs_1699791081

2 SubmittersRCV001175297 RCV005236659

NM_000404.4(GLB1):c.1784G>C (p.Arg595Pro)

SNV
Germline

Chr3:32997295

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA352000756

rs_199694629

1 SubmittersRCV001200663

NM_000404.4(GLB1):c.941T>G (p.Phe314Cys)

SNV
Germline

Chr3:33051772

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA352000948

rs_1699001242

1 SubmittersRCV001200666

NM_000404.4(GLB1):c.785G>C (p.Gly262Ala)

SNV
Germline

Chr3:33053498

Pathogenic/Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA2299601

rs_377174858

2 SubmittersRCV003770235 RCV005432613

NM_000404.4(GLB1):c.1348-3C>G

SNV
Germline

Chr3:33016843

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA1139657924

rs_1697255114

1 SubmittersRCV001217817

NM_000404.4(GLB1):c.734-2A>G

SNV
Germline

Chr3:33053551

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA352002974

rs_1699088102

1 SubmittersRCV001217818

NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys)

SNV
Germline

Chr3:33072598

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
not specified
Inborn genetic diseases
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Conflicting Classifications

CA2299770

rs_759483184

4 SubmittersRCV001231267 RCV003235505 RCV004978165 RCV005029800

NM_000404.4(GLB1):c.955+2T>G

SNV
Germline

Chr3:33051756

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA2299551

rs_746883447

3 SubmittersRCV001225769 RCV005036493 RCV005909071

NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp)

SNV
Germline

Chr3:33018540

Pathogenic/Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2299444

rs_747709527

3 SubmittersRCV001250224 RCV001349145 RCV003238855

NM_000404.4(GLB1):c.1254C>G (p.Tyr418Ter)

SNV
Germline

Chr3:33018541

Pathogenic

GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351992542

rs_1697338499

1 SubmittersRCV001250225

NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter)

SNV
Unknown

Chr3:33018483

Likely pathogenic

GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3

Criteria Provided
Single Submitter

CA351992162

rs_1697334156

1 SubmittersRCV001263743

NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter)

SNV
Unknown

Chr3:33051795

Likely pathogenic

GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3

Criteria Provided
Single Submitter

CA352001074

rs_1699002261

1 SubmittersRCV001263744

NM_000404.4(GLB1):c.819G>A (p.Trp273Ter)

SNV
Germline

Chr3:33051978

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA352001617

rs_1378338444

3 SubmittersRCV001263745 RCV002537662 RCV005029851

NM_000404.4(GLB1):c.775G>T (p.Glu259Ter)

SNV
Unknown

Chr3:33053508

Likely pathogenic

GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3

Criteria Provided
Single Submitter

CA352002661

rs_1699086565

1 SubmittersRCV001263746

NM_000404.4(GLB1):c.733+2T>C

SNV
Germline

Chr3:33058087

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA352003846

rs_1699291583

2 SubmittersRCV001269210 RCV003770401

NM_000404.4(GLB1):c.1388T>C (p.Leu463Pro)

SNV
Germline

Chr3:33016800

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351989524

rs_2125467060

1 SubmittersRCV001366260

NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys)

SNV
Germline

Chr3:33072682

Pathogenic/Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Condition: not provided
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA2299782

rs_748345527

4 SubmittersRCV001373808 RCV004728689 RCV005023114 RCV005236841

NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)

SNV
Germline

Chr3:33058265

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA72670727

rs_779023917

2 SubmittersRCV001377615 RCV001732176

NM_000404.4(GLB1):c.202C>G (p.Arg68Gly)

SNV
Germline

Chr3:33072587

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351996450

rs_72555370

1 SubmittersRCV001379676

NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter)

SNV
Germline

Chr3:33014091

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351983760

rs_1295295164

2 SubmittersRCV001389009 RCV003481105

NM_000404.4(GLB1):c.1580G>A (p.Trp527Ter)

SNV
Germline

Chr3:33014210

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA2299354

rs_769781778

2 SubmittersRCV001390073 RCV003230671

NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter)

SNV
Germline

Chr3:33018471

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA351992056

rs_2125469895

2 SubmittersRCV001381783 RCV005023134

NM_000404.4(GLB1):c.1258A>C (p.Thr420Pro)

SNV
Germline

Chr3:33018537

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2299441

rs_200181401

3 SubmittersRCV001382667 RCV004770136 RCV004797941

NM_000404.4(GLB1):c.994G>A (p.Asp332Asn)

SNV
Germline

Chr3:33046194

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Condition: not provided
GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2299525

rs_781658798

4 SubmittersRCV001383879 RCV003327516 RCV004690099 RCV005038188

NM_000404.4(GLB1):c.75+2T>G

SNV
Germline

Chr3:33097009

Pathogenic

Mucopolysaccharidosis, MPS-IV-B

No Assertion Criteria Provided

CA352007430

rs_2125591484

1 SubmittersRCV001391310

NM_000404.4(GLB1):c.782A>G (p.Lys261Arg)

SNV
Germline

Chr3:33053501

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GLB1-related disorder

Criteria Provided
Conflicting Classifications

CA2299602

rs_200050465

2 SubmittersRCV001430040 RCV004533719

NM_000404.4(GLB1):c.61A>G (p.Thr21Ala)

SNV
Germline

Chr3:33097025

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2300128

rs_201903758

3 SubmittersRCV001435358 RCV002261364 RCV002555195

NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)

SNV
Germline

Chr3:33046178

Pathogenic/Likely pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2299523

rs_752177002

4 SubmittersRCV001650518 RCV001882746 RCV003323912

NM_000404.4(GLB1):c.451G>T (p.Asp151Tyr)

SNV
Germline

Chr3:33068236

Likely pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351994013

rs_375582374

2 SubmittersRCV001730468 RCV004798916

NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys)

SNV
Germline

Chr3:33046190

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA2299524

rs_370107958

4 SubmittersRCV002290745 RCV004798927 RCV005038287

NM_000404.4(GLB1):c.1617G>A (p.Trp539Ter)

SNV
Germline

Chr3:33014173

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351985680

rs_1697143129

1 SubmittersRCV001783378

NM_000404.4(GLB1):c.266A>T (p.His89Leu)

SNV
Germline

Chr3:33068950

Pathogenic

Infantile GM1 gangliosidosis

Criteria Provided
Single Submitter

CA10602176

rs_2125548832

1 SubmittersRCV001806352

NM_000404.4(GLB1):c.734-6T>A

SNV
Germline

Chr3:33053555

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA432959588

rs_1350583798

2 SubmittersRCV002024123 RCV006280914

NM_000404.4(GLB1):c.517C>G (p.Leu173Val)

SNV
Germline

Chr3:33065498

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351992112

rs_1303774639

1 SubmittersRCV002036528

NM_000404.4(GLB1):c.915-1G>T

SNV
Germline

Chr3:33051799

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Thyroid cancer, nonmedullary, 1
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA2299559

rs_749020375

2 SubmittersRCV001985845 RCV005925462 RCV005925461

NM_000404.4(GLB1):c.176G>T (p.Arg59Leu)

SNV
Germline

Chr3:33072613

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
not specified

Criteria Provided
Conflicting Classifications

CA351996505

rs_72555392

2 SubmittersRCV002019499 RCV006267005

NM_000404.4(GLB1):c.1772A>C (p.Tyr591Ser)

SNV
Germline

Chr3:32997307

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA72667244

rs_72555371

1 SubmittersRCV001967085

NM_000404.4(GLB1):c.1479+1G>C

SNV
Germline

Chr3:33016708

Pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351988433

rs_1022476871

1 SubmittersRCV001905463

NM_000404.4(GLB1):c.246-2A>G

SNV
Germline

Chr3:33068972

Pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351995624

rs_2125548861

1 SubmittersRCV001910472

NM_000404.4(GLB1):c.424A>T (p.Lys142Ter)

SNV
Germline

Chr3:33068263

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA2299707

rs_776213501

1 SubmittersRCV001927524

NM_000404.4(GLB1):c.569G>A (p.Gly190Asp)

SNV
Germline

Chr3:33058253

Pathogenic/Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA2299649

rs_756575833

3 SubmittersRCV001863251 RCV002290779 RCV004782800

NM_000404.4(GLB1):c.982C>T (p.Pro328Ser)

SNV
Germline

Chr3:33046206

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
not specified

Criteria Provided
Conflicting Classifications

CA351999452

rs_1244404381

2 SubmittersRCV001898423 RCV003317543

NM_000404.4(GLB1):c.1739A>G (p.Gln580Arg)

SNV
Germline

Chr3:32997340

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA352000853

rs_2125442981

1 SubmittersRCV001977677

NM_000404.4(GLB1):c.1040A>G (p.Tyr347Cys)

SNV
Germline

Chr3:33046148

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351999254

rs_2125514041

1 SubmittersRCV001977720

NM_000404.4(GLB1):c.521A>C (p.Tyr174Ser)

SNV
Germline

Chr3:33065494

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351992088

rs_2125543580

1 SubmittersRCV002024552

NM_000404.4(GLB1):c.1616G>A (p.Trp539Ter)

SNV
Germline

Chr3:33014174

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351985696

rs_2125463197

1 SubmittersRCV001922145

NM_000404.4(GLB1):c.397G>T (p.Gly133Ter)

SNV
Germline

Chr3:33068290

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351994330

rs_2125547910

1 SubmittersRCV001999719

NM_000404.4(GLB1):c.203G>T (p.Arg68Leu)

SNV
Germline

Chr3:33072586

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
not specified

Criteria Provided
Conflicting Classifications

CA351996448

rs_572237881

2 SubmittersRCV002002980 RCV003323967

NM_000404.4(GLB1):c.1276T>G (p.Cys426Gly)

SNV
Germline

Chr3:33018519

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA2299437

rs_765230559

1 SubmittersRCV001873061

NM_000404.4(GLB1):c.1258A>G (p.Thr420Ala)

SNV
Germline

Chr3:33018537

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
not specified

Criteria Provided
Conflicting Classifications

CA351992519

rs_200181401

2 SubmittersRCV002003336 RCV005432886

NM_000404.4(GLB1):c.380G>T (p.Cys127Phe)

SNV
Germline

Chr3:33068836

Conflicting classifications of pathogenicity

not specified
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Conflicting Classifications

CA351994543

rs_1699791081

3 SubmittersRCV004526893 RCV005025590 RCV002001035

NM_000404.4(GLB1):c.1442G>A (p.Gly481Glu)

SNV
Germline

Chr3:33016746

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
not specified

Criteria Provided
Conflicting Classifications

CA2299388

rs_747812191

2 SubmittersRCV001952469 RCV004690186

NM_000404.4(GLB1):c.161G>A (p.Ser54Asn)

SNV
Germline

Chr3:33072628

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2299778

rs_143423935

2 SubmittersRCV002029304 RCV005238174

NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)

SNV
Germline

Chr3:33018539

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3

Criteria Provided
Conflicting Classifications

CA2299443

rs_780634117

2 SubmittersRCV002026850 RCV002498062

NM_000404.4(GLB1):c.451G>A (p.Asp151Asn)

SNV
Germline

Chr3:33068236

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA2299699

rs_375582374

1 SubmittersRCV001973484

NM_000404.4(GLB1):c.1009C>G (p.Leu337Val)

SNV
Germline

Chr3:33046179

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351999382

rs_376034559

1 SubmittersRCV001986227

NM_000404.4(GLB1):c.1645C>T (p.Pro549Ser)

SNV
Germline

Chr3:33014145

Conflicting classifications of pathogenicity

not specified
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Conflicting Classifications

CA351984554

rs_2125463133

2 SubmittersRCV006458903 RCV002021340

NM_000404.4(GLB1):c.257G>A (p.Trp86Ter)

SNV
Germline

Chr3:33068959

Pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351995502

rs_2125548844

1 SubmittersRCV001866791

NM_000404.4(GLB1):c.553-2A>T

SNV
Germline

Chr3:33058271

Pathogenic/Likely pathogenic

Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GLB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA352004999

rs_2125533195

3 SubmittersRCV002249057 RCV003094010 RCV004698866

NM_000404.4(GLB1):c.390G>A (p.Trp130Ter)

SNV
Germline

Chr3:33068826

Pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA351994488

rs_2125548643

2 SubmittersRCV002272949 RCV006558725

NM_000404.4(GLB1):c.569G>T (p.Gly190Val)

SNV
Germline

Chr3:33058253

Likely pathogenic

Infantile GM1 gangliosidosis

Criteria Provided
Single Submitter

CA352004852

rs_756575833

1 SubmittersRCV002291070

NM_000404.4(GLB1):c.1122T>A (p.Tyr374Ter)

SNV
Unknown

Chr3:33024272

Likely pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2

Criteria Provided
Single Submitter

CA351995045

rs_1407133452

1 SubmittersRCV002307889

NM_000404.4(GLB1):c.1122T>G (p.Tyr374Ter)

SNV
Germline

Chr3:33024272

Pathogenic

Infantile GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351995044

rs_1407133452

1 SubmittersRCV002510243

NM_000404.4(GLB1):c.938A>G (p.Asn313Ser)

SNV
Germline

Chr3:33051775

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA2299554

rs_781080459

1 SubmittersRCV003061397

NM_000404.4(GLB1):c.1771T>C (p.Tyr591His)

SNV
Germline

Chr3:32997308

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA2299298

rs_72555373

1 SubmittersRCV003079045

NM_000404.4(GLB1):c.482G>A (p.Trp161Ter)

SNV
Germline

Chr3:33065533

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351992475

rs_768691348

1 SubmittersRCV003091081

NM_000404.4(GLB1):c.842A>G (p.His281Arg)

SNV
Germline

Chr3:33051955

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
not specified

Criteria Provided
Conflicting Classifications

CA352001486

rs_1198846361

2 SubmittersRCV002584751 RCV005406592

NM_000404.4(GLB1):c.1147A>T (p.Lys383Ter)

SNV
Germline

Chr3:33021652

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA351993468

rs_1559385963

2 SubmittersRCV003073540 RCV005028217

NM_000404.4(GLB1):c.955+5G>A

SNV
Germline

Chr3:33051753

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA432959393

rs_1464136979

1 SubmittersRCV002606758

NM_000404.4(GLB1):c.2012A>G (p.Asp671Gly)

SNV
Germline

Chr3:32997067

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis

Criteria Provided
Conflicting Classifications

CA351999872

rs_1696330609

2 SubmittersRCV002623685 RCV004725551

NM_000404.4(GLB1):c.785G>T (p.Gly262Val)

SNV
Germline

Chr3:33053498

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA352002570

rs_377174858

1 SubmittersRCV002651651

NM_000404.4(GLB1):c.785G>A (p.Gly262Glu)

SNV
Germline

Chr3:33053498

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2299600

rs_377174858

2 SubmittersRCV002651652 RCV005239709

NM_000404.4(GLB1):c.304C>G (p.His102Asp)

SNV
Germline

Chr3:33068912

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA2299741

rs_769503425

1 SubmittersRCV002664299

NM_000404.4(GLB1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr3:33097083

Likely pathogenic

Infantile GM1 gangliosidosis
GLB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2300148

rs_780109160

2 SubmittersRCV002571631 RCV005869853

NM_000404.4(GLB1):c.1347+1G>T

SNV
Germline

Chr3:33018447

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA351991880

rs_757256051

2 SubmittersRCV002650519 RCV005034358

NM_000404.4(GLB1):c.905G>A (p.Ser302Asn)

SNV
Germline

Chr3:33051892

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA352001192

rs_2125523018

2 SubmittersRCV002653974 RCV005854289

NM_000404.4(GLB1):c.937A>G (p.Asn313Asp)

SNV
Germline

Chr3:33051776

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA352000973

rs_2471374147

1 SubmittersRCV002681511

NM_000404.4(GLB1):c.1667T>C (p.Phe556Ser)

SNV
Germline

Chr3:33014123

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351984196

rs_2471248129

1 SubmittersRCV002710956

NM_000404.4(GLB1):c.1768C>G (p.Arg590Gly)

SNV
Germline

Chr3:32997311

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
not specified

Criteria Provided
Conflicting Classifications

CA352000785

rs_794727165

2 SubmittersRCV002861796 RCV006460273

NM_000404.4(GLB1):c.1498A>T (p.Thr500Ser)

SNV
Germline

Chr3:33014292

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351986836

rs_72555368

1 SubmittersRCV002937708

NM_000404.4(GLB1):c.802G>C (p.Glu268Gln)

SNV
Germline

Chr3:33051995

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA352001711

rs_2471375206

1 SubmittersRCV003005635

NM_000404.4(GLB1):c.932G>A (p.Gly311Glu)

SNV
Germline

Chr3:33051781

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA352000994

rs_2471374173

1 SubmittersRCV003030175

NM_000404.4(GLB1):c.774T>A (p.Cys258Ter)

SNV
Germline

Chr3:33053509

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA352002670

rs_2471380476

1 SubmittersRCV003036562

NM_000404.4(GLB1):c.733+6T>C

SNV
Germline

Chr3:33058083

Pathogenic

GM1 gangliosidosis

Criteria Provided
Single Submitter

CA2573050719

rs_2471397419

1 SubmittersRCV003225641

NM_000404.4(GLB1):c.130G>T (p.Asp44Tyr)

SNV
Germline

Chr3:33072659

Likely pathogenic

Infantile GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351996852

rs_2471449533

1 SubmittersRCV003225699

NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)

SNV
Germline

Chr3:33058260

Pathogenic

Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA352004906

rs_2471398259

2 SubmittersRCV003238167 RCV003779865

NM_000404.4(GLB1):c.1347+1G>A

SNV
Germline

Chr3:33018447

Likely pathogenic

GLB1-related disorder

Criteria Provided
Single Submitter

CA2299421

rs_757256051

1 SubmittersRCV003314170

NM_000404.4(GLB1):c.253C>T (p.Pro85Ser)

SNV
Germline

Chr3:33068963

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351995529

rs_1575472038

1 SubmittersRCV003388961

NM_000404.4(GLB1):c.160A>G (p.Ser54Gly)

SNV
Germline

Chr3:33072629

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351996548

rs_2471449387

1 SubmittersRCV003782234

NM_000404.4(GLB1):c.1234-1G>T

SNV
Germline

Chr3:33018562

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA2299446

rs_778340733

1 SubmittersRCV003795989

NM_000404.4(GLB1):c.1728G>A (p.Trp576Ter)

SNV
Germline

Chr3:33014062

Pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351983561

rs_2471247835

1 SubmittersRCV003781003

NM_000404.4(GLB1):c.1441G>T (p.Gly481Ter)

SNV
Germline

Chr3:33016747

Pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351988841

rs_773868843

1 SubmittersRCV003781004

NM_000404.4(GLB1):c.1703A>G (p.Asp568Gly)

SNV
Germline

Chr3:33014087

Pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351983734

rs_2471247981

1 SubmittersRCV003781368

NM_000404.4(GLB1):c.710A>G (p.Tyr237Cys)

SNV
Germline

Chr3:33058112

Pathogenic/Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA352003955

rs_2471397544

2 SubmittersRCV003781369 RCV005030265

NM_000404.4(GLB1):c.550C>T (p.Gln184Ter)

SNV
Germline

Chr3:33065465

Pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351991671

rs_2471424354

1 SubmittersRCV003781370

NM_000404.4(GLB1):c.517C>T (p.Leu173Phe)

SNV
Germline

Chr3:33065498

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351992105

rs_1303774639

1 SubmittersRCV003792753

NM_000404.4(GLB1):c.443G>T (p.Arg148Leu)

SNV
Germline

Chr3:33068244

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA351994053

rs_745864233

2 SubmittersRCV003793773 RCV005934915

NM_000404.4(GLB1):c.1060A>G (p.Ile354Val)

SNV
Germline

Chr3:33046128

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351999176

rs_2471354173

1 SubmittersRCV003792482

NM_000404.4(GLB1):c.151A>C (p.Ile51Leu)

SNV
Germline

Chr3:33072638

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351996638

rs_2471449415

1 SubmittersRCV003807997

NM_000404.4(GLB1):c.1256G>C (p.Arg419Pro)

SNV
Germline

Chr3:33018539

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351992532

rs_780634117

1 SubmittersRCV003807999

NM_000404.4(GLB1):c.552+1G>A

SNV
Germline

Chr3:33065462

Pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351991646

rs_2471424350

1 SubmittersRCV003808084

NM_000404.4(GLB1):c.765G>T (p.Gln255His)

SNV
Germline

Chr3:33053518

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA352002730

rs_1553610553

1 SubmittersRCV003806469

NM_000404.4(GLB1):c.148T>C (p.Tyr50His)

SNV
Germline

Chr3:33072641

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351996665

rs_2471449428

1 SubmittersRCV003791489

NM_000404.4(GLB1):c.572G>C (p.Ser191Thr)

SNV
Germline

Chr3:33058250

Conflicting classifications of pathogenicity

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
not specified

Criteria Provided
Conflicting Classifications

CA352004833

rs_1553611055

2 SubmittersRCV003803769 RCV005407256

NM_000404.4(GLB1):c.1660G>A (p.Gly554Arg)

SNV
Germline

Chr3:33014130

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351984319

rs_2471248154

1 SubmittersRCV003799685

NM_000404.4(GLB1):c.915-2A>G

SNV
Germline

Chr3:33051800

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA352001103

rs_2471374263

1 SubmittersRCV003805324

NM_000404.4(GLB1):c.76-1G>T

SNV
Germline

Chr3:33072714

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351997123

rs_2471449819

1 SubmittersRCV003809100

NM_000404.4(GLB1):c.1742T>G (p.Val581Gly)

SNV
Germline

Chr3:32997337

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA352000843

rs_2471199391

1 SubmittersRCV003802311

NM_000404.4(GLB1):c.1231C>T (p.Gln411Ter)

SNV
Germline

Chr3:33021568

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351992816

rs_2471270710

1 SubmittersRCV003809898

NM_000404.4(GLB1):c.1582G>T (p.Gly528Ter)

SNV
Germline

Chr3:33014208

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351986062

rs_2471248619

1 SubmittersRCV003813320

NM_000404.4(GLB1):c.520T>G (p.Tyr174Asp)

SNV
Germline

Chr3:33065495

Likely pathogenic

GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

CA351992091

rs_2471424489

1 SubmittersRCV003807600

NM_000404.4(GLB1):c.572G>T (p.Ser191Ile)

SNV
Germline

Chr3:33058250

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA352004830

rs_1553611055

1 SubmittersRCV003812786

NM_000404.4(GLB1):c.971A>C (p.Tyr324Ser)

SNV
Germline

Chr3:33046217

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

CA351999476

rs_977975596

1 SubmittersRCV003805041

NM_000404.4(GLB1):c.146G>C (p.Arg49Pro)

SNV
Germline

Chr3:33072643

Likely pathogenic

GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_780523881

2 SubmittersRCV005023593 RCV004586250

NM_000404.4(GLB1):c.1823T>C (p.Leu608Pro)

SNV
Germline

Chr3:32997256

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004699771 RCV005023646

NM_000404.4(GLB1):c.1471G>T (p.Asp491Tyr)

SNV
Germline

Chr3:33016717

Likely pathogenic

GM1 gangliosidosis
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004699962 RCV005023649

NM_000404.4(GLB1):c.914+4A>G

SNV
Germline

Chr3:33051879

Likely pathogenic

GM1 gangliosidosis

Criteria Provided
Single Submitter

1 SubmittersRCV004799114

NM_000404.4(GLB1):c.1792C>T (p.Gln598Ter)

SNV
Germline

Chr3:32997287

Likely pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024592

NM_000404.4(GLB1):c.462C>G (p.Tyr154Ter)

SNV
Germline

Chr3:33065553

Likely pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024598

NM_000404.4(GLB1):c.289C>T (p.Gln97Ter)

SNV
Germline

Chr3:33068927

Likely pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024600

NM_000404.4(GLB1):c.288C>G (p.Tyr96Ter)

SNV
Germline

Chr3:33068928

Likely pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024601

NM_000404.4(GLB1):c.275G>A (p.Trp92Ter)

SNV
Germline

Chr3:33068941

Pathogenic

GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005035308

NM_000404.4(GLB1):c.1063C>T (p.Gln355Ter)

SNV
Germline

Chr3:33046125

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

1 SubmittersRCV005213711

NM_000404.4(GLB1):c.718G>A (p.Val240Met)

SNV
Germline

Chr3:33058104

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

1 SubmittersRCV005228511

NM_000404.4(GLB1):c.452A>T (p.Asp151Val)

SNV
Germline

Chr3:33068235

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005228512 RCV006456015

NM_000404.4(GLB1):c.400G>A (p.Gly134Arg)

SNV
Germline

Chr3:33068287

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

1 SubmittersRCV005228513

NM_000404.4(GLB1):c.1313G>T (p.Gly438Val)

SNV
Germline

Chr3:33018482

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

1 SubmittersRCV005212014

NM_000404.4(GLB1):c.835C>T (p.Gln279Ter)

SNV
Germline

Chr3:33051962

Pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

1 SubmittersRCV005224097

NM_000404.4(GLB1):c.521A>G (p.Tyr174Cys)

SNV
Germline

Chr3:33065494

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

1 SubmittersRCV005226609

NM_000404.4(GLB1):c.1143+1G>T

SNV
Germline

Chr3:33024250

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

1 SubmittersRCV005222162

NM_000404.4(GLB1):c.955+2T>A

SNV
Germline

Chr3:33051756

Pathogenic

GLB1-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005233538

NM_000404.4(GLB1):c.859G>T (p.Glu287Ter)

SNV
Germline

Chr3:33051938

Likely pathogenic

GM1 gangliosidosis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005233239

NM_000404.4(GLB1):c.787C>T (p.Pro263Ser)

SNV
Germline

Chr3:33053496

Likely pathogenic

GM1 gangliosidosis

Criteria Provided
Single Submitter

1 SubmittersRCV005240065

NM_000404.4(GLB1):c.1736G>A (p.Gly579Asp)

SNV
Germline

Chr3:32997343

Pathogenic

GM1 gangliosidosis

Criteria Provided
Single Submitter

1 SubmittersRCV005409155

NM_000404.4(GLB1):c.520T>C (p.Tyr174His)

SNV
Germline

Chr3:33065495

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

1 SubmittersRCV005418810

NM_000404.4(GLB1):c.203G>C (p.Arg68Pro)

SNV
Germline

Chr3:33072586

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005636440

NM_000404.4(GLB1):c.1480-1G>C

SNV
Germline

Chr3:33014311

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005635899

NM_000404.4(GLB1):c.370C>T (p.Pro124Ser)

SNV
Germline

Chr3:33068846

Likely pathogenic

GM1 gangliosidosis

Criteria Provided
Single Submitter

1 SubmittersRCV006258109

NM_000404.4(GLB1):c.485T>C (p.Leu162Ser)

SNV
Germline

Chr3:33065530

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Single Submitter

1 SubmittersRCV006453218

NM_000404.4(GLB1):c.1313G>C (p.Gly438Ala)

SNV
Germline

Chr3:33018482

Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Single Submitter

1 SubmittersRCV006599766