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 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	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 GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114630	rs_72555359	8 SubmittersRCV000000972 RCV000667074 RCV001058421 RCV001174734 RCV001781153
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 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA114632	rs_72555360	11 SubmittersRCV000000973 RCV000256168 RCV000410436 RCV000269582 RCV000411949 RCV000411359 RCV001208622
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)	SNV Germline	Chr3:33072637	Pathogenic	GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA114634	rs_72555390	4 SubmittersRCV000000974 RCV000671053 RCV001582457 RCV001851520
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys)	SNV Germline	Chr3:33051766	Likely pathogenic	Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis	Criteria Provided Single Submitter	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 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA114640	rs_28934886	4 SubmittersRCV000000978 RCV001378633 RCV001810396 RCV002281684
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)	SNV Germline	Chr3:33016743	Pathogenic	Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3	Criteria Provided Multiple Submitters No Conflicts	CA114644	rs_72555391	8 SubmittersRCV000000981 RCV000119099 RCV000586055 RCV000174679 RCV001034863 RCV002476905
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)	SNV Germline	Chr3:33072544	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 3 Inborn genetic diseases Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Condition: not provided Infantile GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA114649	rs_72555393	7 SubmittersRCV000000984 RCV000624609 RCV000669063 RCV001068811 RCV001262449 RCV001559063 RCV004546408
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)	SNV Germline	Chr3:33016744	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA156185	rs_72555365	3 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 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA114654	rs_72555366	9 SubmittersRCV000000988 RCV000179306 RCV000586182 RCV000633470 RCV000984269 RCV000984270 RCV000984271 RCV002512629
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)	SNV Germline	Chr3:33018482	Pathogenic	Mucopolysaccharidosis, MPS-IV-B Condition: not provided GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Spondyloepiphyseal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA114656	rs_72555367	7 SubmittersRCV000000989 RCV001091796 RCV000850556 RCV001382999 RCV001843450
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)	SNV Germline	Chr3:33046137	Pathogenic	GM1-gangliosidosis, type I, with cardiac involvement Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis Condition: not provided Spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA114658	rs_72555372	8 SubmittersRCV000000990 RCV000665526 RCV001223149 RCV000780302 RCV001331201 RCV002225254 RCV001642195
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)	SNV Germline	Chr3:33014292	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 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.202C>T (p.Arg68Trp)	SNV Germline	Chr3:33072587	Pathogenic	GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA114664	rs_72555370	3 SubmittersRCV000000993 RCV000760159 RCV001235447
NM_000404.4(GLB1):c.176G>A (p.Arg59His)	SNV Germline/somatic	Chr3:33072613	Pathogenic/Likely pathogenic	GM1-gangliosidosis, type I, with cardiac involvement Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis Inborn genetic diseases GLB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114666	rs_72555392	20 SubmittersRCV000000994 RCV000000995 RCV000059350 RCV000078708 RCV000175600 RCV000811276 RCV000850557 RCV000984179 RCV000778693 RCV004018531 RCV004545719
NM_000404.4(GLB1):c.1480-2A>G	SNV Germline	Chr3:33014312	Pathogenic	GM1-gangliosidosis, type I, with cardiac involvement GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Condition: not provided GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA114668	rs_587776526	7 SubmittersRCV000000996 RCV001251276 RCV000790562 RCV001049270 RCV002243610 RCV002496221 RCV002470702
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)	SNV Germline	Chr3:32997307	Conflicting classifications of pathogenicity	GM1-gangliosidosis, type I, with cardiac involvement Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA114671	rs_72555371	3 SubmittersRCV000000998 RCV000673090 RCV003764505
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu)	SNV Germline	Chr3:33068897	Likely pathogenic	GM1 gangliosidosis type 2 Inborn genetic diseases Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA145198	rs_397515616	3 SubmittersRCV000059351 RCV000623339 RCV003764741
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro)	SNV Germline	Chr3:33065497	Pathogenic	GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA145200	rs_397515617	2 SubmittersRCV000059352 RCV000541694
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)	SNV Germline	Chr3:33018485	Conflicting classifications of pathogenicity	Condition: not provided GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA201009	rs_202237232	3 SubmittersRCV000174475 RCV000668735 RCV001854385
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)	SNV Germline	Chr3:33072618	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA201540	rs_398123350	6 SubmittersRCV000671504 RCV000675686 RCV002513824 RCV003987350
NM_000404.4(GLB1):c.1769G>A (p.Arg590His)	SNV Germline	Chr3:32997310	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis Progressive familial intrahepatic cholestasis Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3	Criteria Provided Multiple Submitters No Conflicts	CA201251	rs_398123351	5 SubmittersRCV000174999 RCV000794211 RCV004526614 RCV004542752 RCV001804833 RCV001810420
NM_000404.4(GLB1):c.397-1G>A	SNV Germline	Chr3:33068291	Pathogenic/Likely pathogenic	Condition: not provided GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	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 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA202711	rs_192732174	9 SubmittersRCV000178094 RCV000666298 RCV000778692 RCV000818014 RCV001331203
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)	SNV Germline	Chr3:33065534	Conflicting classifications of pathogenicity	Condition: not provided GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA220721	rs_398123355	5 SubmittersRCV000078717 RCV000673411 RCV001175293 RCV001378119
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)	SNV Germline	Chr3:33072586	Conflicting classifications of pathogenicity	Condition: not provided GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA201542	rs_572237881	4 SubmittersRCV000175606 RCV000673880 RCV001201192 RCV001852152
NM_000404.4(GLB1):c.602G>A (p.Arg201His)	SNV Germline	Chr3:33058220	Pathogenic	Condition: not provided GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA203223	rs_189115557	13 SubmittersRCV000255006 RCV000309607 RCV000665698 RCV000995553 RCV000818052 RCV002286710 RCV002500509
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)	SNV Germline	Chr3:33018510	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided	Criteria Provided Conflicting Classifications	CA351471	rs_180869784	3 SubmittersRCV000673241 RCV000537911 RCV003482247
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)	SNV Germline	Chr3:33068940	Pathogenic	GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis Infantile GM1 gangliosidosis Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299743	rs_748830051	5 SubmittersRCV000670448 RCV000766231 RCV001091797 RCV001387511
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)	SNV Germline	Chr3:33014057	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided GM1 gangliosidosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA2299321	rs_371582179	9 SubmittersRCV000239412 RCV000665995 RCV001061617 RCV001200664 RCV001192992 RCV002518537
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)	SNV Germline	Chr3:33065551	Pathogenic	Condition: not provided GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B 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 Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GLB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2299582	rs_376663785	9 SubmittersRCV000394616 RCV000623067 RCV000689244 RCV000780303 RCV000666452 RCV004545765
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)	SNV Germline	Chr3:33018452	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Infantile GM1 gangliosidosis GM1 gangliosidosis type 2	Criteria Provided Conflicting Classifications	CA2299424	rs_757926581	5 SubmittersRCV000292413 RCV000675170 RCV001382666 RCV001584055 RCV001775114
NM_000404.4(GLB1):c.245+1G>A	SNV Germline	Chr3:33072543	Pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299763	rs_778423653	5 SubmittersRCV000477865 RCV000685614 RCV001175540
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)	SNV Germline	Chr3:33014202	Conflicting classifications of pathogenicity	Condition: not provided GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GLB1-related disorder	Criteria Provided Conflicting Classifications	CA2299352	rs_371397760	4 SubmittersRCV000522107 RCV000765726 RCV001079383 RCV004537876
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)	SNV Germline	Chr3:33072614	Pathogenic/Likely pathogenic	Condition: not provided GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299775	rs_756878418	7 SubmittersRCV000597388 RCV000669165 RCV001050379 RCV000987141 RCV002245028
NM_000404.4(GLB1):c.146G>A (p.Arg49His)	SNV Germline	Chr3:33072643	Conflicting classifications of pathogenicity	Inborn genetic diseases GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Condition: not provided	Criteria Provided Conflicting Classifications	CA2299779	rs_780523881	4 SubmittersRCV000624583 RCV000672724 RCV001057694 RCV003238787
NM_000404.4(GLB1):c.443G>A (p.Arg148His)	SNV Germline	Chr3:33068244	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B 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	CA2299702	rs_745864233	3 SubmittersRCV000626074 RCV000763097 RCV001855325
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)	SNV Germline	Chr3:33018470	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299427	rs_564428355	6 SubmittersRCV000666461 RCV000633471 RCV001568844 RCV003338697
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter)	SNV Germline	Chr3:33014076	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts		rs_1803200	2 SubmittersRCV000672277 RCV002531313
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys)	SNV Germline	Chr3:33016734	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications		rs_1553606400	2 SubmittersRCV000671173 RCV001855552
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)	SNV Germline	Chr3:33018474	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts		rs_780724173	2 SubmittersRCV000666573 RCV001049111
NM_000404.4(GLB1):c.1144-2A>G	SNV Germline	Chr3:33021657	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts		rs_1553607014	3 SubmittersRCV000673337 RCV001071947 RCV003387908
NM_000404.4(GLB1):c.733+1G>A	SNV Germline	Chr3:33058088	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1041204916	3 SubmittersRCV000668507 RCV001203710 RCV001784254
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)	SNV Germline	Chr3:33058250	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Conflicting Classifications		rs_1553611055	2 SubmittersRCV000664551 RCV002530631
NM_000404.4(GLB1):c.552+2T>C	SNV Germline	Chr3:33065461	Likely pathogenic	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		rs_1553611778	2 SubmittersRCV000669176 RCV002532083
NM_000404.4(GLB1):c.401G>T (p.Gly134Val)	SNV Germline	Chr3:33068286	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications		rs_773562141	2 SubmittersRCV000672112 RCV002531304
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys)	SNV Germline	Chr3:33068968	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications		rs_1553612220	2 SubmittersRCV000671078 RCV003767991
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn)	SNV Germline	Chr3:33072637	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications		rs_72555390	2 SubmittersRCV000670208 RCV003767982
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)	SNV Germline	Chr3:32997311	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications		rs_794727165	2 SubmittersRCV000666546 RCV002530688
NM_000404.4(GLB1):c.245+1G>C	SNV Germline	Chr3:33072543	Pathogenic/Likely pathogenic	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		rs_778423653	2 SubmittersRCV000670410 RCV002531251
NM_000404.4(GLB1):c.1479+1G>A	SNV Germline	Chr3:33016708	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis Condition: not provided GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts		rs_1022476871	3 SubmittersRCV000673840 RCV000731323 RCV001389790
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)	SNV Germline	Chr3:33016736	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications		rs_968221254	2 SubmittersRCV000668974 RCV001379670
NM_000404.4(GLB1):c.1233+1G>A	SNV Germline	Chr3:33021565	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts		rs_1553606984	2 SubmittersRCV000672279 RCV001855576
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)	SNV Germline	Chr3:33046150	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts		rs_749980306	3 SubmittersRCV000674446 RCV001855609 RCV002271564
NM_000404.4(GLB1):c.765G>C (p.Gln255His)	SNV Germline	Chr3:33053518	Likely pathogenic	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts		rs_1553610553	2 SubmittersRCV000670551 RCV003767987
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)	SNV Germline	Chr3:32997333	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_778375259	3 SubmittersRCV000673883 RCV001855604 RCV003236832
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter)	SNV Unknown	Chr3:33014181	Likely pathogenic	GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis	Criteria Provided Single Submitter		rs_1553606091	1 SubmittersRCV000667717
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn)	SNV Germline	Chr3:33016717	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications		rs_780232995	3 SubmittersRCV000674513 RCV002289953 RCV001868281
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)	SNV Germline	Chr3:33068245	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GLB1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_192732174	9 SubmittersRCV000666897 RCV000727559 RCV001055679 RCV000780304 RCV001175301 RCV004533467
NM_000404.4(GLB1):c.1438A>G (p.Met480Val)	SNV Germline	Chr3:33016750	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_1280400930	2 SubmittersRCV000669124 RCV003238800
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)	SNV Germline	Chr3:33018485	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis not specified GLB1-related disorder	Criteria Provided Conflicting Classifications		rs_202237232	5 SubmittersRCV000669669 RCV000874342 RCV001150121 RCV001150120 RCV002222593 RCV004535685
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)	SNV Germline	Chr3:33046150	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts		rs_749980306	2 SubmittersRCV000665726 RCV000821368
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)	SNV Germline	Chr3:33046217	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications		rs_977975596	2 SubmittersRCV000672690 RCV003767999
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter)	SNV Unknown	Chr3:33065492	Likely pathogenic	GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis	Criteria Provided Single Submitter		rs_1553611789	1 SubmittersRCV000666243
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)	SNV Germline	Chr3:33068241	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications		rs_778700089	3 SubmittersRCV000668601 RCV000679994 RCV001228044
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)	SNV Germline	Chr3:33068821	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Conflicting Classifications		rs_1553612189	3 SubmittersRCV000672923 RCV001731879 RCV002249399
NM_000404.4(GLB1):c.335A>C (p.His112Pro)	SNV Germline	Chr3:33068881	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Conflicting Classifications		rs_753965226	2 SubmittersRCV000670769 RCV002531261
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 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_756403702	4 SubmittersRCV000908403 RCV001150009 RCV001150010 RCV001563856 RCV001563858 RCV001563857 RCV003438575
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 Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts		rs_746766232	5 SubmittersRCV000995552 RCV001331204 RCV001378118 RCV002279689 RCV003226413
NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter)	SNV Unknown	Chr3:33018483	Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2	Criteria Provided Single Submitter		rs_1697334156	1 SubmittersRCV001263743
NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter)	SNV Unknown	Chr3:33051795	Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2	Criteria Provided Single Submitter		rs_1699002261	1 SubmittersRCV001263744
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter)	SNV Germline	Chr3:33051978	Pathogenic/Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts		rs_1378338444	2 SubmittersRCV001263745 RCV002537662
NM_000404.4(GLB1):c.775G>T (p.Glu259Ter)	SNV Unknown	Chr3:33053508	Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2	Criteria Provided Single Submitter		rs_1699086565	1 SubmittersRCV001263746
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 GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis	Criteria Provided Conflicting Classifications		rs_780634117	2 SubmittersRCV002026850 RCV002498062
NM_000404.4(GLB1):c.1122T>A (p.Tyr374Ter)	SNV Unknown	Chr3:33024272	Likely pathogenic	GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis	Criteria Provided Single Submitter			1 SubmittersRCV002307889

SNV
Germline

Chr3:33072644

Conflicting classifications of pathogenicity

Infantile GM1 gangliosidosis
Condition: not provided
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114630

rs_72555359

8 SubmittersRCV000000972 RCV000667074 RCV001058421 RCV001174734 RCV001781153

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114632

rs_72555360

11 SubmittersRCV000000973 RCV000256168 RCV000410436 RCV000269582 RCV000411949 RCV000411359 RCV001208622

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

SNV
Germline

Chr3:33072637

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114634

rs_72555390

4 SubmittersRCV000000974 RCV000671053 RCV001582457 RCV001851520

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

SNV
Germline

Chr3:33051766

Likely pathogenic

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

Criteria Provided
Single Submitter

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
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA114640

rs_28934886

4 SubmittersRCV000000978 RCV001378633 RCV001810396 RCV002281684

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

SNV
Germline

Chr3:33016743

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114644

rs_72555391

8 SubmittersRCV000000981 RCV000119099 RCV000586055 RCV000174679 RCV001034863 RCV002476905

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

SNV
Germline

Chr3:33072544

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA114649

rs_72555393

7 SubmittersRCV000000984 RCV000624609 RCV000669063 RCV001068811 RCV001262449 RCV001559063 RCV004546408

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

SNV
Germline

Chr3:33016744

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA156185

rs_72555365

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114654

rs_72555366

9 SubmittersRCV000000988 RCV000179306 RCV000586182 RCV000633470 RCV000984269 RCV000984270 RCV000984271 RCV002512629

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

SNV
Germline

Chr3:33018482

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114656

rs_72555367

7 SubmittersRCV000000989 RCV001091796 RCV000850556 RCV001382999 RCV001843450

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

SNV
Germline

Chr3:33046137

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114658

rs_72555372

8 SubmittersRCV000000990 RCV000665526 RCV001223149 RCV000780302 RCV001331201 RCV002225254 RCV001642195

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

SNV
Germline

Chr3:33014292

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
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.202C>T (p.Arg68Trp)

SNV
Germline

Chr3:33072587

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114664

rs_72555370

3 SubmittersRCV000000993 RCV000760159 RCV001235447

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

SNV
Germline/somatic

Chr3:33072613

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114666

rs_72555392

20 SubmittersRCV000000994 RCV000000995 RCV000059350 RCV000078708 RCV000175600 RCV000811276 RCV000850557 RCV000984179 RCV000778693 RCV004018531 RCV004545719

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

SNV
Germline

Chr3:33014312

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114668

rs_587776526

7 SubmittersRCV000000996 RCV001251276 RCV000790562 RCV001049270 RCV002243610 RCV002496221 RCV002470702

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

SNV
Germline

Chr3:32997307

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA114671

rs_72555371

3 SubmittersRCV000000998 RCV000673090 RCV003764505

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

SNV
Germline

Chr3:33068897

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA145198

rs_397515616

3 SubmittersRCV000059351 RCV000623339 RCV003764741

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

SNV
Germline

Chr3:33065497

Pathogenic

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

Criteria Provided
Single Submitter

CA145200

rs_397515617

2 SubmittersRCV000059352 RCV000541694

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

SNV
Germline

Chr3:33018485

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201009

rs_202237232

3 SubmittersRCV000174475 RCV000668735 RCV001854385

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

SNV
Germline

Chr3:33072618

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA201540

rs_398123350

6 SubmittersRCV000671504 RCV000675686 RCV002513824 RCV003987350

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

SNV
Germline

Chr3:32997310

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA201251

rs_398123351

5 SubmittersRCV000174999 RCV000794211 RCV004526614 RCV004542752 RCV001804833 RCV001810420

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

SNV
Germline

Chr3:33068291

Pathogenic/Likely pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA202711

rs_192732174

9 SubmittersRCV000178094 RCV000666298 RCV000778692 RCV000818014 RCV001331203

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

SNV
Germline

Chr3:33065534

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA220721

rs_398123355

5 SubmittersRCV000078717 RCV000673411 RCV001175293 RCV001378119

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

SNV
Germline

Chr3:33072586

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201542

rs_572237881

4 SubmittersRCV000175606 RCV000673880 RCV001201192 RCV001852152

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

SNV
Germline

Chr3:33058220

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA203223

rs_189115557

13 SubmittersRCV000255006 RCV000309607 RCV000665698 RCV000995553 RCV000818052 RCV002286710 RCV002500509

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

SNV
Germline

Chr3:33018510

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351471

rs_180869784

3 SubmittersRCV000673241 RCV000537911 RCV003482247

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

SNV
Germline

Chr3:33068940

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299743

rs_748830051

5 SubmittersRCV000670448 RCV000766231 RCV001091797 RCV001387511

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

SNV
Germline

Chr3:33014057

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299321

rs_371582179

9 SubmittersRCV000239412 RCV000665995 RCV001061617 RCV001200664 RCV001192992 RCV002518537

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

SNV
Germline

Chr3:33065551

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299582

rs_376663785

9 SubmittersRCV000394616 RCV000623067 RCV000689244 RCV000780303 RCV000666452 RCV004545765

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

SNV
Germline

Chr3:33018452

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2299424

rs_757926581

5 SubmittersRCV000292413 RCV000675170 RCV001382666 RCV001584055 RCV001775114

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

SNV
Germline

Chr3:33072543

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299763

rs_778423653

5 SubmittersRCV000477865 RCV000685614 RCV001175540

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

SNV
Germline

Chr3:33014202

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2299352

rs_371397760

4 SubmittersRCV000522107 RCV000765726 RCV001079383 RCV004537876

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

SNV
Germline

Chr3:33072614

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299775

rs_756878418

7 SubmittersRCV000597388 RCV000669165 RCV001050379 RCV000987141 RCV002245028

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

SNV
Germline

Chr3:33072643

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2299779

rs_780523881

4 SubmittersRCV000624583 RCV000672724 RCV001057694 RCV003238787

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

SNV
Germline

Chr3:33068244

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-B
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

CA2299702

rs_745864233

3 SubmittersRCV000626074 RCV000763097 RCV001855325

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

SNV
Germline

Chr3:33018470

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299427

rs_564428355

6 SubmittersRCV000666461 RCV000633471 RCV001568844 RCV003338697

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

SNV
Germline

Chr3:33014076

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1803200

2 SubmittersRCV000672277 RCV002531313

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

SNV
Germline

Chr3:33016734

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1553606400

2 SubmittersRCV000671173 RCV001855552

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

SNV
Germline

Chr3:33018474

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_780724173

2 SubmittersRCV000666573 RCV001049111

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

SNV
Germline

Chr3:33021657

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553607014

3 SubmittersRCV000673337 RCV001071947 RCV003387908

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

SNV
Germline

Chr3:33058088

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1041204916

3 SubmittersRCV000668507 RCV001203710 RCV001784254

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

SNV
Germline

Chr3:33058250

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1553611055

2 SubmittersRCV000664551 RCV002530631

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

SNV
Germline

Chr3:33065461

Likely pathogenic

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

rs_1553611778

2 SubmittersRCV000669176 RCV002532083

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

SNV
Germline

Chr3:33068286

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_773562141

2 SubmittersRCV000672112 RCV002531304

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

SNV
Germline

Chr3:33068968

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1553612220

2 SubmittersRCV000671078 RCV003767991

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

SNV
Germline

Chr3:33072637

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_72555390

2 SubmittersRCV000670208 RCV003767982

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

SNV
Germline

Chr3:32997311

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_794727165

2 SubmittersRCV000666546 RCV002530688

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

SNV
Germline

Chr3:33072543

Pathogenic/Likely pathogenic

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

rs_778423653

2 SubmittersRCV000670410 RCV002531251

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

SNV
Germline

Chr3:33016708

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1022476871

3 SubmittersRCV000673840 RCV000731323 RCV001389790

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

SNV
Germline

Chr3:33016736

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_968221254

2 SubmittersRCV000668974 RCV001379670

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

SNV
Germline

Chr3:33021565

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553606984

2 SubmittersRCV000672279 RCV001855576

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

SNV
Germline

Chr3:33046150

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_749980306

3 SubmittersRCV000674446 RCV001855609 RCV002271564

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

SNV
Germline

Chr3:33053518

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553610553

2 SubmittersRCV000670551 RCV003767987

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

SNV
Germline

Chr3:32997333

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_778375259

3 SubmittersRCV000673883 RCV001855604 RCV003236832

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

SNV
Unknown

Chr3:33014181

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_1553606091

1 SubmittersRCV000667717

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

SNV
Germline

Chr3:33016717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_780232995

3 SubmittersRCV000674513 RCV002289953 RCV001868281

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

SNV
Germline

Chr3:33068245

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_192732174

9 SubmittersRCV000666897 RCV000727559 RCV001055679 RCV000780304 RCV001175301 RCV004533467

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

SNV
Germline

Chr3:33016750

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1280400930

2 SubmittersRCV000669124 RCV003238800

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

SNV
Germline

Chr3:33018485

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_202237232

5 SubmittersRCV000669669 RCV000874342 RCV001150121 RCV001150120 RCV002222593 RCV004535685

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

SNV
Germline

Chr3:33046150

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_749980306

2 SubmittersRCV000665726 RCV000821368

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

SNV
Germline

Chr3:33046217

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_977975596

2 SubmittersRCV000672690 RCV003767999

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

SNV
Unknown

Chr3:33065492

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_1553611789

1 SubmittersRCV000666243

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

SNV
Germline

Chr3:33068241

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_778700089

3 SubmittersRCV000668601 RCV000679994 RCV001228044

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

SNV
Germline

Chr3:33068821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1553612189

3 SubmittersRCV000672923 RCV001731879 RCV002249399

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

SNV
Germline

Chr3:33068881

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_753965226

2 SubmittersRCV000670769 RCV002531261

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
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756403702

4 SubmittersRCV000908403 RCV001150009 RCV001150010 RCV001563856 RCV001563858 RCV001563857 RCV003438575

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
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

rs_746766232

5 SubmittersRCV000995552 RCV001331204 RCV001378118 RCV002279689 RCV003226413

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

SNV
Unknown

Chr3:33018483

Likely pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2

Criteria Provided
Single Submitter

rs_1697334156

1 SubmittersRCV001263743

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

SNV
Unknown

Chr3:33051795

Likely pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2

Criteria Provided
Single Submitter

rs_1699002261

1 SubmittersRCV001263744

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

SNV
Germline

Chr3:33051978

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1378338444

2 SubmittersRCV001263745 RCV002537662

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

SNV
Unknown

Chr3:33053508

Likely pathogenic

Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2

Criteria Provided
Single Submitter

rs_1699086565

1 SubmittersRCV001263746

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
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis

Criteria Provided
Conflicting Classifications

rs_780634117

2 SubmittersRCV002026850 RCV002498062

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

SNV
Unknown

Chr3:33024272

Likely pathogenic

GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Infantile GM1 gangliosidosis

Criteria Provided
Single Submitter

1 SubmittersRCV002307889