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 GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis 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 GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B 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 GM1 gangliosidosis Condition: not provided GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GLB1-related disorder Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA114632	rs_72555360	14 SubmittersRCV000000973 RCV000269582 RCV000256168 RCV000410436 RCV000411949 RCV001208622 RCV000411359 RCV004737133 RCV005024979
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)	SNV Germline	Chr3:33072637	Pathogenic	GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B 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 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B 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 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA114640	rs_28934886	4 SubmittersRCV000000978 RCV001810396 RCV001378633 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 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Condition: not provided GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA114644	rs_72555391	8 SubmittersRCV000000981 RCV000586055 RCV000119099 RCV000174679 RCV001034863 RCV002476905
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)	SNV Germline	Chr3:33072544	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Condition: not provided Inborn genetic diseases GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA114649	rs_72555393	7 SubmittersRCV000000984 RCV000669063 RCV001559063 RCV000624609 RCV001068811 RCV004546408
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)	SNV Germline	Chr3:33016744	Pathogenic	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 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 GM1 gangliosidosis Condition: not provided GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA114654	rs_72555366	10 SubmittersRCV000000988 RCV000586182 RCV000179306 RCV000984269 RCV000984270 RCV000984271 RCV000633470 RCV005024980 RCV002512629
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)	SNV Germline	Chr3:33018482	Pathogenic	Mucopolysaccharidosis, MPS-IV-B Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Spondyloepiphyseal dysplasia GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA114656	rs_72555367	8 SubmittersRCV000000989 RCV001091796 RCV000850556 RCV001843450 RCV001382999 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 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Condition: not provided GM1 gangliosidosis type 3 GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA114660	rs_72555368	6 SubmittersRCV000000991 RCV000673423 RCV001818116 RCV003137481 RCV002281685 RCV001040694
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 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis Condition: not provided GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3	Criteria Provided Multiple Submitters No Conflicts	CA114664	rs_72555370	6 SubmittersRCV000000993 RCV001235447 RCV000760159 RCV004589492 RCV005031376 RCV005430910
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 Condition: not provided GM1 gangliosidosis type 2 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 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GLB1-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA114666	rs_72555392	20 SubmittersRCV000000995 RCV000000994 RCV000078708 RCV000059350 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 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA114668	rs_587776526	7 SubmittersRCV000000996 RCV000790562 RCV001049270 RCV001251276 RCV002243610 RCV002470702 RCV002496221
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)	SNV Germline	Chr3:32997307	Pathogenic/Likely pathogenic	GM1-gangliosidosis, type I, with cardiac involvement Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B 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 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA145198	rs_397515616	5 SubmittersRCV000059351 RCV000623339 RCV003764741 RCV004586535 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 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA145200	rs_397515617	3 SubmittersRCV000059352 RCV000541694 RCV005031549
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)	SNV Germline	Chr3:33018485	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	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 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis 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	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis 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 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Progressive familial intrahepatic cholestasis GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA201251	rs_398123351	6 SubmittersRCV000174999 RCV000794211 RCV001804833 RCV001810420 RCV004542752 RCV004526614 RCV005025132
NM_000404.4(GLB1):c.397-1G>A	SNV Germline	Chr3:33068291	Pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 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 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Infantile GM1 gangliosidosis GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA202711	rs_192732174	11 SubmittersRCV000178094 RCV000666298 RCV000818014 RCV001331203 RCV000778692
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)	SNV Germline	Chr3:33065534	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 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.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.1768C>T (p.Arg590Cys)	SNV Germline	Chr3:32997311	Pathogenic	Condition: not provided Infantile GM1 gangliosidosis 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 SubmittersRCV000175004 RCV000175003 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 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA201542	rs_572237881	5 SubmittersRCV000175606 RCV001201192 RCV000673880 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 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 2 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	16 SubmittersRCV000255006 RCV000309607 RCV000665698 RCV000818052 RCV000995553 RCV002286710 RCV002500509
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)	SNV Germline	Chr3:33018510	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis 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	Condition: not provided Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299743	rs_748830051	5 SubmittersRCV001091797 RCV000670448 RCV000766231 RCV001387511
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)	SNV Germline	Chr3:33014057	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA2299321	rs_371582179	9 SubmittersRCV000239412 RCV000665995 RCV001192992 RCV001061617 RCV001200664 RCV002518537
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)	SNV Germline	Chr3:33065551	Pathogenic	Mucopolysaccharidosis, MPS-IV-B Condition: not provided GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA10588356	rs_376710410	6 SubmittersRCV000984003 RCV000256106 RCV000665871 RCV000809706 RCV001175291
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)	SNV Germline	Chr3:33051989	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GLB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2299582	rs_376663785	10 SubmittersRCV000394616 RCV000623067 RCV000689244 RCV000666452 RCV000780303 RCV004545765
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 GM1 gangliosidosis type 2 GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299424	rs_757926581	6 SubmittersRCV000292413 RCV000675170 RCV001382666 RCV001584055 RCV001775114 RCV005027449
NM_000404.4(GLB1):c.841C>T (p.His281Tyr)	SNV Germline	Chr3:33051956	Pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GLB1-related disorder Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA2299580	rs_745386663	7 SubmittersRCV000413217 RCV000662341 RCV000805468 RCV004737460 RCV005410898
NM_000404.4(GLB1):c.245+1G>A	SNV Germline	Chr3:33072543	Pathogenic	GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2299763	rs_778423653	6 SubmittersRCV000477865 RCV000685614 RCV001175540 RCV004591410
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 not specified GLB1-related disorder	Criteria Provided Conflicting Classifications	CA2300136	rs_77988381	5 SubmittersRCV000488298 RCV001089162 RCV001335294 RCV005407147 RCV004541535
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)	SNV Germline	Chr3:33014144	Pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis 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 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis 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	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Condition: not provided GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299775	rs_756878418	8 SubmittersRCV000669165 RCV000597388 RCV001050379 RCV000987141 RCV002245028 RCV005240291
NM_000404.4(GLB1):c.146G>A (p.Arg49His)	SNV Germline	Chr3:33072643	Pathogenic/Likely pathogenic	Inborn genetic diseases GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B 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 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B 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 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis Condition: not provided GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GLB1-related disorder GM1 gangliosidosis type 3	Criteria Provided Multiple Submitters No Conflicts	CA2299427	rs_564428355	8 SubmittersRCV000633471 RCV000666461 RCV001568844 RCV005208144 RCV003338697 RCV004737910 RCV005431826
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	Conflicting classifications of pathogenicity	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis not specified	Criteria Provided Conflicting Classifications	CA351988716	rs_1553606400	3 SubmittersRCV000671173 RCV001855552 RCV004782504
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)	SNV Germline	Chr3:33018474	Pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA2299428	rs_780724173	2 SubmittersRCV000666573 RCV001049111
NM_000404.4(GLB1):c.1144-2A>G	SNV Germline	Chr3:33021657	Pathogenic/Likely pathogenic	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	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	Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 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 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA352004835	rs_1553611055	2 SubmittersRCV000664551 RCV002530631
NM_000404.4(GLB1):c.552+2T>C	SNV Germline	Chr3:33065461	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 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	Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351996616	rs_72555390	2 SubmittersRCV000670208 RCV003767982
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)	SNV Germline	Chr3:32997311	Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B 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	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Single Submitter	CA2299373	rs_202007119	2 SubmittersRCV000664835 RCV005223104
NM_000404.4(GLB1):c.245+1G>C	SNV Germline	Chr3:33072543	Pathogenic	Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 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	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Condition: not provided Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	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	Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 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	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	CA2299520	rs_749980306	3 SubmittersRCV000674446 RCV001855609 RCV002271564
NM_000404.4(GLB1):c.765G>C (p.Gln255His)	SNV Germline	Chr3:33053518	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	CA352002733	rs_1553610553	2 SubmittersRCV000670551 RCV003767987
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)	SNV Germline	Chr3:32997333	Pathogenic	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis 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	GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA2299384	rs_780232995	3 SubmittersRCV000674513 RCV002289953 RCV001868281
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)	SNV Germline	Chr3:33068245	Pathogenic/Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Condition: not provided Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis GLB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2299703	rs_192732174	9 SubmittersRCV000666897 RCV000727559 RCV000780304 RCV001055679 RCV001175301 RCV004533467
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	Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis not specified GLB1-related disorder	Criteria Provided Conflicting Classifications	CA2299431	rs_202237232	5 SubmittersRCV000669669 RCV000874342 RCV001150121 RCV001150120 RCV002222593 RCV004535685
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)	SNV Germline	Chr3:33046150	Pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis	Criteria Provided Single Submitter	CA351999266	rs_749980306	2 SubmittersRCV000665726 RCV000821368
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)	SNV Germline	Chr3:33046217	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	CA351999477	rs_977975596	2 SubmittersRCV000672690 RCV003767999
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	Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA2299701	rs_778700089	4 SubmittersRCV000668601 RCV000679994 RCV001228044 RCV005407863
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.1479G>T (p.Lys493Asn)	SNV Germline	Chr3:33016709	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Infantile GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA351988441	rs_1172435886	3 SubmittersRCV000810175 RCV005208150
NM_000404.4(GLB1):c.2016A>G (p.Ser672=)	SNV Germline	Chr3:32997063	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2299254	rs_756403702	4 SubmittersRCV000908403 RCV001150009 RCV001150010 RCV001563856 RCV001563858 RCV001563857 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.716C>T (p.Thr239Met)	SNV Germline	Chr3:33058106	Pathogenic/Likely pathogenic	GM1 gangliosidosis type 2 Infantile 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 GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299627	rs_746766232	7 SubmittersRCV000995552 RCV001331204 RCV001378118 RCV005036266 RCV002279689 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.931G>A (p.Gly311Arg)	SNV Germline	Chr3:33051782	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B	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.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.191A>G (p.Tyr64Cys)	SNV Germline	Chr3:33072598	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis not specified Inborn genetic diseases GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	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	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	CA2299551	rs_746883447	2 SubmittersRCV001225769 RCV005036493
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 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3	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.107A>G (p.Tyr36Cys)	SNV Germline	Chr3:33072682	Pathogenic/Likely pathogenic	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Condition: not provided Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA2299782	rs_748345527	4 SubmittersRCV001373808 RCV004728689 RCV005236841 RCV005023114
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 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA351992056	rs_2125469895	2 SubmittersRCV001381783 RCV005023134
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 type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA2299525	rs_781658798	4 SubmittersRCV001383879 RCV003327516 RCV005038188 RCV004690099
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)	SNV Germline	Chr3:33046178	Pathogenic/Likely pathogenic	Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis 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 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA2299524	rs_370107958	4 SubmittersRCV002290745 RCV004798927 RCV005038287
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.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.380G>T (p.Cys127Phe)	SNV Germline	Chr3:33068836	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B not specified GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA351994543	rs_1699791081	3 SubmittersRCV002001035 RCV004526893 RCV005025590
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)	SNV Germline	Chr3:33018539	Conflicting classifications of pathogenicity	GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis	Criteria Provided Conflicting Classifications	CA2299443	rs_780634117	2 SubmittersRCV002026850 RCV002498062
NM_000404.4(GLB1):c.553-2A>T	SNV Germline	Chr3:33058271	Pathogenic/Likely pathogenic	Infantile GM1 gangliosidosis GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GLB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA352004999	rs_2125533195	3 SubmittersRCV002249057 RCV003094010 RCV004698866
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.1147A>T (p.Lys383Ter)	SNV Germline	Chr3:33021652	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B	Criteria Provided Multiple Submitters No Conflicts	CA351993468	rs_1559385963	2 SubmittersRCV003073540 RCV005028217
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.3G>A (p.Met1Ile)	SNV Germline	Chr3:33097083	Likely pathogenic	Infantile GM1 gangliosidosis	Criteria Provided Single Submitter	CA2300148	rs_780109160	1 SubmittersRCV002571631
NM_000404.4(GLB1):c.1347+1G>T	SNV Germline	Chr3:33018447	Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis	Criteria Provided Multiple Submitters No Conflicts	CA351991880	rs_757256051	2 SubmittersRCV002650519 RCV005034358
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.710A>G (p.Tyr237Cys)	SNV Germline	Chr3:33058112	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 GM1 gangliosidosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA352003955	rs_2471397544	2 SubmittersRCV003781369 RCV005030265
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.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

SNV
Germline

Chr3:33072644

Conflicting classifications of pathogenicity

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114632

rs_72555360

14 SubmittersRCV000000973 RCV000269582 RCV000256168 RCV000410436 RCV000411949 RCV001208622 RCV000411359 RCV004737133 RCV005024979

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

SNV
Germline

Chr3:33072637

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114640

rs_28934886

4 SubmittersRCV000000978 RCV001810396 RCV001378633 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
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Condition: not provided
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA114644

rs_72555391

8 SubmittersRCV000000981 RCV000586055 RCV000119099 RCV000174679 RCV001034863 RCV002476905

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

SNV
Germline

Chr3:33072544

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114649

rs_72555393

7 SubmittersRCV000000984 RCV000669063 RCV001559063 RCV000624609 RCV001068811 RCV004546408

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

SNV
Germline

Chr3:33016744

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114654

rs_72555366

10 SubmittersRCV000000988 RCV000586182 RCV000179306 RCV000984269 RCV000984270 RCV000984271 RCV000633470 RCV005024980 RCV002512629

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

SNV
Germline

Chr3:33018482

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114656

rs_72555367

8 SubmittersRCV000000989 RCV001091796 RCV000850556 RCV001843450 RCV001382999 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
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
Condition: not provided
GM1 gangliosidosis type 3
GM1 gangliosidosis
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B

Criteria Provided
Multiple Submitters
No Conflicts

CA114660

rs_72555368

6 SubmittersRCV000000991 RCV000673423 RCV001818116 RCV003137481 RCV002281685 RCV001040694

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114664

rs_72555370

6 SubmittersRCV000000993 RCV001235447 RCV000760159 RCV004589492 RCV005031376 RCV005430910

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114666

rs_72555392

20 SubmittersRCV000000995 RCV000000994 RCV000078708 RCV000059350 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
Infantile GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
GM1 gangliosidosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA114668

rs_587776526

7 SubmittersRCV000000996 RCV000790562 RCV001049270 RCV001251276 RCV002243610 RCV002470702 RCV002496221

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

SNV
Germline

Chr3:32997307

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA145198

rs_397515616

5 SubmittersRCV000059351 RCV000623339 RCV003764741 RCV004586535 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 3
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA145200

rs_397515617

3 SubmittersRCV000059352 RCV000541694 RCV005031549

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

SNV
Germline

Chr3:33018485

Pathogenic/Likely pathogenic

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

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
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
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

Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
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
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
Progressive familial intrahepatic cholestasis
GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA201251

rs_398123351

6 SubmittersRCV000174999 RCV000794211 RCV001804833 RCV001810420 RCV004542752 RCV004526614 RCV005025132

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

SNV
Germline

Chr3:33068291

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA202711

rs_192732174

11 SubmittersRCV000178094 RCV000666298 RCV000818014 RCV001331203 RCV000778692

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

SNV
Germline

Chr3:33065534

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 2
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.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.1768C>T (p.Arg590Cys)

SNV
Germline

Chr3:32997311

Pathogenic

Condition: not provided
Infantile GM1 gangliosidosis
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 SubmittersRCV000175004 RCV000175003 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
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA201542

rs_572237881

5 SubmittersRCV000175606 RCV001201192 RCV000673880 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
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
GM1 gangliosidosis type 2
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

16 SubmittersRCV000255006 RCV000309607 RCV000665698 RCV000818052 RCV000995553 RCV002286710 RCV002500509

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

SNV
Germline

Chr3:33018510

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299743

rs_748830051

5 SubmittersRCV001091797 RCV000670448 RCV000766231 RCV001387511

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

SNV
Germline

Chr3:33014057

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299321

rs_371582179

9 SubmittersRCV000239412 RCV000665995 RCV001192992 RCV001061617 RCV001200664 RCV002518537

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

SNV
Germline

Chr3:33065551

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10588356

rs_376710410

6 SubmittersRCV000984003 RCV000256106 RCV000665871 RCV000809706 RCV001175291

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

SNV
Germline

Chr3:33051989

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299582

rs_376663785

10 SubmittersRCV000394616 RCV000623067 RCV000689244 RCV000666452 RCV000780303 RCV004545765

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299424

rs_757926581

6 SubmittersRCV000292413 RCV000675170 RCV001382666 RCV001584055 RCV001775114 RCV005027449

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

SNV
Germline

Chr3:33051956

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299580

rs_745386663

7 SubmittersRCV000413217 RCV000662341 RCV000805468 RCV004737460 RCV005410898

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

SNV
Germline

Chr3:33072543

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299763

rs_778423653

6 SubmittersRCV000477865 RCV000685614 RCV001175540 RCV004591410

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
not specified
GLB1-related disorder

Criteria Provided
Conflicting Classifications

CA2300136

rs_77988381

5 SubmittersRCV000488298 RCV001089162 RCV001335294 RCV005407147 RCV004541535

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

SNV
Germline

Chr3:33014144

Pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299775

rs_756878418

8 SubmittersRCV000669165 RCV000597388 RCV001050379 RCV000987141 RCV002245028 RCV005240291

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

SNV
Germline

Chr3:33072643

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299427

rs_564428355

8 SubmittersRCV000633471 RCV000666461 RCV001568844 RCV005208144 RCV003338697 RCV004737910 RCV005431826

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351988716

rs_1553606400

3 SubmittersRCV000671173 RCV001855552 RCV004782504

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

SNV
Germline

Chr3:33018474

Pathogenic

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

Criteria Provided
Single Submitter

CA2299428

rs_780724173

2 SubmittersRCV000666573 RCV001049111

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

SNV
Germline

Chr3:33021657

Pathogenic/Likely pathogenic

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

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

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

Criteria Provided
Single Submitter

CA352004835

rs_1553611055

2 SubmittersRCV000664551 RCV002530631

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

SNV
Germline

Chr3:33065461

Likely pathogenic

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

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

Criteria Provided
Single Submitter

CA351996616

rs_72555390

2 SubmittersRCV000670208 RCV003767982

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

SNV
Germline

Chr3:32997311

Likely pathogenic

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

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

Criteria Provided
Single Submitter

CA2299373

rs_202007119

2 SubmittersRCV000664835 RCV005223104

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

SNV
Germline

Chr3:33072543

Pathogenic

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

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

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

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

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

CA2299520

rs_749980306

3 SubmittersRCV000674446 RCV001855609 RCV002271564

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

SNV
Germline

Chr3:33053518

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

CA352002733

rs_1553610553

2 SubmittersRCV000670551 RCV003767987

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

SNV
Germline

Chr3:32997333

Pathogenic

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

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

Criteria Provided
Conflicting Classifications

CA2299384

rs_780232995

3 SubmittersRCV000674513 RCV002289953 RCV001868281

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

SNV
Germline

Chr3:33068245

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299703

rs_192732174

9 SubmittersRCV000666897 RCV000727559 RCV000780304 RCV001055679 RCV001175301 RCV004533467

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

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

Criteria Provided
Conflicting Classifications

CA2299431

rs_202237232

5 SubmittersRCV000669669 RCV000874342 RCV001150121 RCV001150120 RCV002222593 RCV004535685

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

SNV
Germline

Chr3:33046150

Pathogenic

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

Criteria Provided
Single Submitter

CA351999266

rs_749980306

2 SubmittersRCV000665726 RCV000821368

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

SNV
Germline

Chr3:33046217

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

CA351999477

rs_977975596

2 SubmittersRCV000672690 RCV003767999

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299701

rs_778700089

4 SubmittersRCV000668601 RCV000679994 RCV001228044 RCV005407863

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.1479G>T (p.Lys493Asn)

SNV
Germline

Chr3:33016709

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351988441

rs_1172435886

3 SubmittersRCV000810175 RCV005208150

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

SNV
Germline

Chr3:32997063

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2299254

rs_756403702

4 SubmittersRCV000908403 RCV001150009 RCV001150010 RCV001563856 RCV001563858 RCV001563857 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.716C>T (p.Thr239Met)

SNV
Germline

Chr3:33058106

Pathogenic/Likely pathogenic

GM1 gangliosidosis type 2
Infantile 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
GM1 gangliosidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2299627

rs_746766232

7 SubmittersRCV000995552 RCV001331204 RCV001378118 RCV005036266 RCV002279689 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.931G>A (p.Gly311Arg)

SNV
Germline

Chr3:33051782

Pathogenic/Likely pathogenic

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

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.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.191A>G (p.Tyr64Cys)

SNV
Germline

Chr3:33072598

Conflicting classifications of pathogenicity

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

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

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

CA2299551

rs_746883447

2 SubmittersRCV001225769 RCV005036493

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

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.107A>G (p.Tyr36Cys)

SNV
Germline

Chr3:33072682

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299782

rs_748345527

4 SubmittersRCV001373808 RCV004728689 RCV005236841 RCV005023114

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351992056

rs_2125469895

2 SubmittersRCV001381783 RCV005023134

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299525

rs_781658798

4 SubmittersRCV001383879 RCV003327516 RCV005038188 RCV004690099

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

SNV
Germline

Chr3:33046178

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2299524

rs_370107958

4 SubmittersRCV002290745 RCV004798927 RCV005038287

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.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.380G>T (p.Cys127Phe)

SNV
Germline

Chr3:33068836

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351994543

rs_1699791081

3 SubmittersRCV002001035 RCV004526893 RCV005025590

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

SNV
Germline

Chr3:33018539

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2299443

rs_780634117

2 SubmittersRCV002026850 RCV002498062

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

SNV
Germline

Chr3:33058271

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA352004999

rs_2125533195

3 SubmittersRCV002249057 RCV003094010 RCV004698866

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.1147A>T (p.Lys383Ter)

SNV
Germline

Chr3:33021652

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351993468

rs_1559385963

2 SubmittersRCV003073540 RCV005028217

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.3G>A (p.Met1Ile)

SNV
Germline

Chr3:33097083

Likely pathogenic

Infantile GM1 gangliosidosis

Criteria Provided
Single Submitter

CA2300148

rs_780109160

1 SubmittersRCV002571631

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

SNV
Germline

Chr3:33018447

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351991880

rs_757256051

2 SubmittersRCV002650519 RCV005034358

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.710A>G (p.Tyr237Cys)

SNV
Germline

Chr3:33058112

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA352003955

rs_2471397544

2 SubmittersRCV003781369 RCV005030265

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