Glb1 Variant Search Result - Rat Genome Database

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1001 records found for search term Glb1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11589763	CV290780	single nucleotide variant	NM_000404.4(GLB1):c.-25C>G	GM1 gangliosidosis [RCV000270068]\|Mucopolysaccharidosis, MPS-IV-B [RCV000313297]\|not provided [RCV004694734]	uncertain significance	3	33097110	33097110	Human	2	name
11595773	CV293948	single nucleotide variant	NM_000404.4(GLB1):c.-37C>G	GM1 gangliosidosis [RCV000330888]\|Mucopolysaccharidosis, MPS-IV-B [RCV000374183]\|not specified [RCV000593706]	benign\|uncertain significance	3	33097122	33097122	Human	2	name
11582947	CV293951	single nucleotide variant	NM_000404.3(GLB1):c.-73C>T	GM1 gangliosidosis [RCV000315931]\|Morquio syndrome [RCV000263130]	uncertain significance	3	33097158	33097158	Human	2	name
11646887	CV294412	single nucleotide variant	NM_000404.4(GLB1):c.-35T>G	GM1 gangliosidosis [RCV000273433]\|Morquio syndrome [RCV000370265]	uncertain significance	3	33097120	33097120	Human	2	name
28877740	CV888666	single nucleotide variant	NM_000404.4(GLB1):c.*44C>T	GM1 gangliosidosis [RCV001148444]\|Mucopolysaccharidosis, MPS-IV-B [RCV001148443]	uncertain significance	3	32997001	32997001	Human	2	name
28882664	CV888667	single nucleotide variant	NM_000404.4(GLB1):c.*39C>T	GM1 gangliosidosis [RCV001150008]\|Mucopolysaccharidosis, MPS-IV-B [RCV001150007]	uncertain significance	3	32997006	32997006	Human	2	name
28872326	CV888674	single nucleotide variant	NM_000404.4(GLB1):c.-17C>T	GM1 gangliosidosis [RCV001146236]\|Mucopolysaccharidosis, MPS-IV-B [RCV001146235]	uncertain significance	3	33097102	33097102	Human	2	name
28879546	CV888675	single nucleotide variant	NM_000404.4(GLB1):c.-48G>C	GM1 gangliosidosis [RCV001149030]\|Mucopolysaccharidosis, MPS-IV-B [RCV001149031]	likely benign\|uncertain significance	3	33097133	33097133	Human	2	name
127233854	CV1065829	single nucleotide variant	NM_000404.4(GLB1):c.75+2T>G	Mucopolysaccharidosis, MPS-IV-B [RCV001391310]	pathogenic	3	33097009	33097009	Human	1	name
127282508	CV1070703	single nucleotide variant	NM_000404.4(GLB1):c.76-4G>A	Mucopolysaccharidosis, MPS-IV-B [RCV001411159]	likely benign	3	33072717	33072717	Human	1	name
127260083	CV1092388	single nucleotide variant	NM_000404.4(GLB1):c.76-9G>A	Mucopolysaccharidosis, MPS-IV-B [RCV001427721]	likely benign	3	33072722	33072722	Human	1	name
151351399	CV1323587	duplication	NM_000404.4(GLB1):c.75+4dup	Infantile GM1 gangliosidosis [RCV001806443]	pathogenic	3	33097006	33097007	Human	1	name , alternate_id
8555885	CV15975	duplication	NM_000404.4(GLB1):c.75+2dup	GM1 gangliosidosis type 2 [RCV003338377]\|GM1 gangliosidosis type 3 [RCV001376158]\|Inborn genetic diseases [RCV004975256]\|Infantile GM1 gangliosidosis [RCV000000985]\|Mucopolysaccharidosis, MPS-IV-B [RCV000781443]\|Mucopolysaccharidosis, MPS-IV-B [RCV000796145]\|not provided [RCV000412989]	pathogenic	3	33097008	33097009	Human	5	name , alternate_id
152026572	CV1626515	single nucleotide variant	NM_000404.4(GLB1):c.75+7C>G	Mucopolysaccharidosis, MPS-IV-B [RCV002185200]	likely benign	3	33097004	33097004	Human	1	name
152135464	CV1634450	single nucleotide variant	NM_000404.4(GLB1):c.75+9G>A	Mucopolysaccharidosis, MPS-IV-B [RCV002218654]	likely benign	3	33097002	33097002	Human	1	name
156205056	CV1905845	single nucleotide variant	NM_000404.4(GLB1):c.76-5T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003084367]	likely benign	3	33072718	33072718	Human	1	name
155958048	CV2087126	deletion	NM_000404.4(GLB1):c.75+8del	Mucopolysaccharidosis, MPS-IV-B [RCV002862716]	likely benign	3	33097003	33097003	Human	1	name
156377726	CV2120787	single nucleotide variant	NM_000404.4(GLB1):c.76-9G>T	Mucopolysaccharidosis, MPS-IV-B [RCV002942881]	likely benign	3	33072722	33072722	Human	1	name
11350571	CV237277	single nucleotide variant	NM_000404.4(GLB1):c.75+3A>G	Mucopolysaccharidosis, MPS-IV-B [RCV002516236]\|not provided [RCV000223994]\|not specified [RCV003155132]	uncertain significance	3	33097008	33097008	Human	1	name
11595177	CV290008	single nucleotide variant	NM_000404.4(GLB1):c.*354T>C	GM1 gangliosidosis [RCV000331429]\|Mucopolysaccharidosis, MPS-IV-B [RCV000367464]\|not provided [RCV004709953]	benign\|likely benign	3	32996691	32996691	Human	2	name
11582999	CV290009	single nucleotide variant	NM_000404.4(GLB1):c.*319G>A	GM1 gangliosidosis [RCV000318566]\|Mucopolysaccharidosis, MPS-IV-B [RCV000263456]\|not provided [RCV003430878]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	32996726	32996726	Human	2	name
11593293	CV290015	single nucleotide variant	NM_000404.4(GLB1):c.*182A>G	GM1 gangliosidosis [RCV000282978]\|Mucopolysaccharidosis, MPS-IV-B [RCV000347304]	benign\|uncertain significance	3	32996863	32996863	Human	2	name
11584822	CV290770	single nucleotide variant	NM_000404.4(GLB1):c.*376C>G	GM1 gangliosidosis [RCV000371297]\|Mucopolysaccharidosis, MPS-IV-B [RCV000276748]	likely benign\|uncertain significance	3	32996669	32996669	Human	2	name
11647895	CV290771	single nucleotide variant	NM_000404.4(GLB1):c.*194C>A	GM1 gangliosidosis [RCV000373349]\|Mucopolysaccharidosis, MPS-IV-B [RCV000278820]	uncertain significance	3	32996851	32996851	Human	2	name
11590981	CV290772	single nucleotide variant	NM_000404.4(GLB1):c.*184G>A	GM1 gangliosidosis [RCV000379183]\|Mucopolysaccharidosis, MPS-IV-B [RCV000324599]	likely benign\|uncertain significance	3	32996861	32996861	Human	2	name
11589001	CV293940	single nucleotide variant	NM_000404.4(GLB1):c.*423A>G	GM1 gangliosidosis [RCV000270965]\|Mucopolysaccharidosis, MPS-IV-B [RCV000307361]	uncertain significance	3	32996622	32996622	Human	2	name
405061719	CV3108522	single nucleotide variant	NM_000404.4(GLB1):c.76-1G>T	Mucopolysaccharidosis, MPS-IV-B [RCV003809100]	likely pathogenic	3	33072714	33072714	Human	1	name
28871108	CV888665	single nucleotide variant	NM_000404.4(GLB1):c.*224G>T	GM1 gangliosidosis [RCV001145681]\|Mucopolysaccharidosis, MPS-IV-B [RCV001145682]	uncertain significance	3	32996821	32996821	Human	2	name
8639837	CV98820	single nucleotide variant	NM_000404.4(GLB1):c.75+1G>C	not provided [RCV000173120]	pathogenic\|uncertain significance	3	33097010	33097010	Human		name
126731019	CV1000392	single nucleotide variant	NM_000404.4(GLB1):c.457+3A>C	not provided [RCV001310483]	uncertain significance	3	33068227	33068227	Human		name
127249497	CV1070692	single nucleotide variant	NM_000404.4(GLB1):c.914+7G>C	Mucopolysaccharidosis, MPS-IV-B [RCV001417333]	likely benign	3	33051876	33051876	Human	1	name
127255244	CV1092380	single nucleotide variant	NM_000404.4(GLB1):c.955+8C>T	Mucopolysaccharidosis, MPS-IV-B [RCV001426506]	likely benign	3	33051750	33051750	Human	1	name
127255075	CV1092389	single nucleotide variant	NM_000404.4(GLB1):c.75+10C>T	Mucopolysaccharidosis, MPS-IV-B [RCV001437395]	likely benign	3	33097001	33097001	Human	1	name
127312001	CV1134792	single nucleotide variant	NM_000404.4(GLB1):c.956-6T>C	Mucopolysaccharidosis, MPS-IV-B [RCV001501781]	likely benign	3	33046238	33046238	Human	1	name
127337867	CV1134797	single nucleotide variant	NM_000404.4(GLB1):c.792+9C>A	Mucopolysaccharidosis, MPS-IV-B [RCV001493218]	likely benign	3	33053482	33053482	Human	1	name
150422232	CV1179693	single nucleotide variant	NM_000404.4(GLB1):c.75+90G>T	not provided [RCV001552438]	likely benign	3	33096921	33096921	Human		name
151716654	CV1342977	single nucleotide variant	NM_000404.4(GLB1):c.734-6T>A	Mucopolysaccharidosis, MPS-IV-B [RCV002024123]	likely benign\|uncertain significance	3	33053555	33053555	Human	1	name
151831814	CV1364693	single nucleotide variant	NM_000404.4(GLB1):c.915-1G>T	Mucopolysaccharidosis, MPS-IV-B [RCV001985845]	likely pathogenic	3	33051799	33051799	Human	1	name
151794516	CV1409814	single nucleotide variant	NM_000404.4(GLB1):c.246-2A>G	Mucopolysaccharidosis, MPS-IV-B [RCV001910472]	pathogenic	3	33068972	33068972	Human	1	name
152025856	CV1528113	single nucleotide variant	NM_000404.4(GLB1):c.552+8T>C	Mucopolysaccharidosis, MPS-IV-B [RCV002084605]	likely benign	3	33065455	33065455	Human	1	name
152091589	CV1528788	single nucleotide variant	NM_000404.4(GLB1):c.733+7G>A	Mucopolysaccharidosis, MPS-IV-B [RCV002094257]	likely benign	3	33058082	33058082	Human	1	name
152145096	CV1543227	single nucleotide variant	NM_000404.4(GLB1):c.915-8C>G	Mucopolysaccharidosis, MPS-IV-B [RCV002178601]	likely benign	3	33051806	33051806	Human	1	name
152111871	CV1558833	single nucleotide variant	NM_000404.4(GLB1):c.915-4G>A	Mucopolysaccharidosis, MPS-IV-B [RCV002134587]	likely benign	3	33051802	33051802	Human	1	name
152085629	CV1621051	single nucleotide variant	NM_000404.4(GLB1):c.793-9T>A	Mucopolysaccharidosis, MPS-IV-B [RCV002193594]	likely benign	3	33052013	33052013	Human	1	name
152982414	CV1677351	single nucleotide variant	NM_000404.4(GLB1):c.553-2A>T	GLB1-related disorder [RCV004698866]\|Infantile GM1 gangliosidosis [RCV002249057]\|Mucopolysaccharidosis, MPS-IV-B [RCV003094010]	pathogenic\|likely pathogenic	3	33058271	33058271	Human	3	name , alternate_id
156274263	CV1900121	single nucleotide variant	NM_000404.4(GLB1):c.792+9C>T	Mucopolysaccharidosis, MPS-IV-B [RCV003086894]	likely benign	3	33053482	33053482	Human	1	name
156406970	CV1917939	single nucleotide variant	NM_000404.4(GLB1):c.955+5G>A	Mucopolysaccharidosis, MPS-IV-B [RCV002606758]	pathogenic\|uncertain significance	3	33051753	33051753	Human	1	name
156386223	CV1999234	single nucleotide variant	NM_000404.4(GLB1):c.458-5T>C	Mucopolysaccharidosis, MPS-IV-B [RCV002654008]	likely benign	3	33065562	33065562	Human	1	name
156138578	CV2032824	single nucleotide variant	NM_000404.4(GLB1):c.397-8T>C	Mucopolysaccharidosis, MPS-IV-B [RCV002740816]	likely benign	3	33068298	33068298	Human	1	name
156166032	CV2075275	single nucleotide variant	NM_000404.4(GLB1):c.396+7G>T	Mucopolysaccharidosis, MPS-IV-B [RCV002851386]	likely benign	3	33068813	33068813	Human	1	name
156113097	CV2136280	single nucleotide variant	NM_000404.4(GLB1):c.457+3A>G	Mucopolysaccharidosis, MPS-IV-B [RCV003002676]	uncertain significance	3	33068227	33068227	Human	1	name
156071290	CV2163511	single nucleotide variant	NM_000404.4(GLB1):c.76-17C>T	Mucopolysaccharidosis, MPS-IV-B [RCV003020048]	likely benign	3	33072730	33072730	Human	1	name
156116230	CV2182943	single nucleotide variant	NM_000404.4(GLB1):c.245+3A>G	Mucopolysaccharidosis, MPS-IV-B [RCV003039136]	uncertain significance	3	33072541	33072541	Human	1	name
156027185	CV2185672	single nucleotide variant	NM_000404.4(GLB1):c.245+6T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003036020]	uncertain significance	3	33072538	33072538	Human	1	name
329848877	CV2523627	single nucleotide variant	NM_000404.4(GLB1):c.733+6T>C	GM1 gangliosidosis [RCV003225641]	pathogenic	3	33058083	33058083	Human	1	name
11655619	CV290019	single nucleotide variant	NM_000404.4(GLB1):c.553-8A>G	GM1 gangliosidosis [RCV000388761]\|Mucopolysaccharidosis, MPS-IV-B [RCV000326950]	uncertain significance	3	33058277	33058277	Human	2	name
402521130	CV3091988	single nucleotide variant	NM_000404.4(GLB1):c.552+7C>G	Mucopolysaccharidosis, MPS-IV-B [RCV003790434]	likely benign	3	33065456	33065456	Human	1	name
405048762	CV3097504	single nucleotide variant	NM_000404.4(GLB1):c.552+1G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003808084]	pathogenic	3	33065462	33065462	Human	1	name
405033976	CV3098778	single nucleotide variant	NM_000404.4(GLB1):c.75+20G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003806904]	likely benign	3	33096991	33096991	Human	1	name
404980745	CV3099642	single nucleotide variant	NM_000404.4(GLB1):c.914+5G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003791471]	uncertain significance	3	33051878	33051878	Human	1	name
405077797	CV3100418	single nucleotide variant	NM_000404.4(GLB1):c.75+19G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003799971]	likely benign	3	33096992	33096992	Human	1	name
405180984	CV3101794	single nucleotide variant	NM_000404.4(GLB1):c.396+9G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003804008]	likely benign	3	33068811	33068811	Human	1	name
405015472	CV3104455	single nucleotide variant	NM_000404.4(GLB1):c.915-2A>G	Mucopolysaccharidosis, MPS-IV-B [RCV003805324]	likely pathogenic	3	33051800	33051800	Human	1	name
405151255	CV3105729	single nucleotide variant	NM_000404.4(GLB1):c.956-4C>A	Mucopolysaccharidosis, MPS-IV-B [RCV003801446]	likely benign	3	33046236	33046236	Human	1	name
405037523	CV3106303	single nucleotide variant	NM_000404.4(GLB1):c.76-12C>A	Mucopolysaccharidosis, MPS-IV-B [RCV003796994]	likely benign	3	33072725	33072725	Human	1	name
405059722	CV3108338	single nucleotide variant	NM_000404.4(GLB1):c.75+16C>T	Mucopolysaccharidosis, MPS-IV-B [RCV003808916]	likely benign	3	33096995	33096995	Human	1	name
405065716	CV3108967	deletion	NM_000404.4(GLB1):c.76-16del	Mucopolysaccharidosis, MPS-IV-B [RCV003809377]	benign	3	33072729	33072729	Human	1	name
596944554	CV3543242	single nucleotide variant	NM_000404.4(GLB1):c.914+4A>G	GM1 gangliosidosis [RCV004799114]	likely pathogenic	3	33051879	33051879	Human	1	name
12742726	CV359420	single nucleotide variant	NM_000404.4(GLB1):c.396+2T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003766144]\|not provided [RCV000414347]	pathogenic\|likely pathogenic	3	33068818	33068818	Human	1	name
597880032	CV3872128	single nucleotide variant	NM_000404.4(GLB1):c.75+16C>A	Mucopolysaccharidosis, MPS-IV-B [RCV005217180]	likely benign	3	33096995	33096995	Human	1	name
598126537	CV3881986	single nucleotide variant	NM_000404.4(GLB1):c.955+2T>A	GLB1-related disorder [RCV005233538]	pathogenic	3	33051756	33051756	Human		name , trait
12898467	CV404764	single nucleotide variant	NM_000404.4(GLB1):c.245+1G>A	GM1 gangliosidosis [RCV001175540]\|GM1 gangliosidosis type 2 [RCV000477865]\|Mucopolysaccharidosis, MPS-IV-B [RCV000685614]\|not provided [RCV004591410]	pathogenic\|likely pathogenic	3	33072543	33072543	Human	3	name , alternate_id
13792276	CV542941	single nucleotide variant	NM_000404.4(GLB1):c.733+1G>A	GM1 gangliosidosis type 2 [RCV000668507]\|Mucopolysaccharidosis, MPS-IV-B [RCV001203710]\|not provided [RCV001784254]	pathogenic\|likely pathogenic	3	33058088	33058088	Human	2	name , alternate_id
13782683	CV542948	single nucleotide variant	NM_000404.4(GLB1):c.552+2T>C	GM1 gangliosidosis type 2 [RCV000669176]\|Mucopolysaccharidosis, MPS-IV-B [RCV002532083]	likely pathogenic	3	33065461	33065461	Human	2	name , alternate_id
13783899	CV543122	single nucleotide variant	NM_000404.4(GLB1):c.245+1G>C	GM1 gangliosidosis type 2 [RCV000670410]\|Mucopolysaccharidosis, MPS-IV-B [RCV002531251]	pathogenic\|likely pathogenic	3	33072543	33072543	Human	2	name , alternate_id
14703041	CV651170	single nucleotide variant	NM_000404.4(GLB1):c.553-1G>C	Mucopolysaccharidosis, MPS-IV-B [RCV000791815]	pathogenic	3	33058270	33058270	Human	1	name
15132203	CV695198	single nucleotide variant	NM_000404.4(GLB1):c.397-5A>G	Mucopolysaccharidosis, MPS-IV-B [RCV000876110]	likely benign	3	33068295	33068295	Human	1	name
38456577	CV940748	single nucleotide variant	NM_000404.4(GLB1):c.734-2A>G	Mucopolysaccharidosis, MPS-IV-B [RCV001217818]	pathogenic	3	33053551	33053551	Human	1	name
38459469	CV959694	single nucleotide variant	NM_000404.4(GLB1):c.955+2T>G	GM1 gangliosidosis type 2 [RCV005036493]\|Mucopolysaccharidosis, MPS-IV-B [RCV001225769]	likely pathogenic	3	33051756	33051756	Human	2	name , alternate_id
40903268	CV975775	single nucleotide variant	NM_000404.4(GLB1):c.733+2T>C	Mucopolysaccharidosis, MPS-IV-B [RCV001269210]\|Mucopolysaccharidosis, MPS-IV-B [RCV003770401]	pathogenic\|likely pathogenic	3	33058087	33058087	Human	1	name
8639830	CV98813	single nucleotide variant	NM_000404.4(GLB1):c.397-1G>A	GM1 gangliosidosis type 2 [RCV000667741]\|Mucopolysaccharidosis, MPS-IV-B [RCV001211514]\|not provided [RCV000178086]	pathogenic\|likely pathogenic	3	33068291	33068291	Human	2	name , alternate_id
8639832	CV98815	single nucleotide variant	NM_000404.4(GLB1):c.457+2T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003764757]\|not provided [RCV000178088]	pathogenic\|likely pathogenic	3	33068228	33068228	Human	1	name
8639836	CV98819	single nucleotide variant	NM_000404.4(GLB1):c.734-8A>G	GM1 gangliosidosis [RCV002508193]\|GM1 gangliosidosis type 2 [RCV000669168]\|not provided [RCV000078720]\|not specified [RCV003317082]	uncertain significance\|not provided	3	33053557	33053557	Human	2	name , alternate_id
127255184	CV1070685	single nucleotide variant	NM_000404.4(GLB1):c.1735-8C>T	Mucopolysaccharidosis, MPS-IV-B [RCV001418693]	likely benign	3	32997352	32997352	Human	1	name
127263587	CV1070689	deletion	NM_000404.4(GLB1):c.1480-8del	Mucopolysaccharidosis, MPS-IV-B [RCV001403043]	likely benign	3	33014318	33014318	Human	1	name
127271189	CV1092385	single nucleotide variant	NM_000404.4(GLB1):c.734-10C>A	Mucopolysaccharidosis, MPS-IV-B [RCV001441734]	likely benign	3	33053559	33053559	Human	1	name
127335913	CV1113899	single nucleotide variant	NM_000404.4(GLB1):c.1480-4G>T	Mucopolysaccharidosis, MPS-IV-B [RCV001474604]	likely benign	3	33014314	33014314	Human	1	name
127334033	CV1113900	single nucleotide variant	NM_000404.4(GLB1):c.1480-5T>C	Mucopolysaccharidosis, MPS-IV-B [RCV001473330]	likely benign	3	33014315	33014315	Human	1	name
127297304	CV1113902	single nucleotide variant	NM_000404.4(GLB1):c.1347+9C>T	Mucopolysaccharidosis, MPS-IV-B [RCV001477576]	likely benign	3	33018439	33018439	Human	1	name
127295657	CV1113909	single nucleotide variant	NM_000404.4(GLB1):c.915-10T>C	Mucopolysaccharidosis, MPS-IV-B [RCV001459789]	likely benign	3	33051808	33051808	Human	1	name
127318538	CV1134795	single nucleotide variant	NM_000404.4(GLB1):c.792+10G>C	Mucopolysaccharidosis, MPS-IV-B [RCV001483553]	likely benign	3	33053481	33053481	Human	1	name
127335985	CV1134796	single nucleotide variant	NM_000404.4(GLB1):c.792+10G>A	GLB1-related disorder [RCV004738322]\|Mucopolysaccharidosis, MPS-IV-B [RCV001491856]	likely benign	3	33053481	33053481	Human	2	name
127301242	CV1154461	duplication	NM_000404.4(GLB1):c.793-14dup	Mucopolysaccharidosis, MPS-IV-B [RCV001514568]	benign	3	33052011	33052012	Human	1	name
127299871	CV1154462	single nucleotide variant	NM_000404.4(GLB1):c.792+18G>A	Mucopolysaccharidosis, MPS-IV-B [RCV001513874]	benign	3	33053473	33053473	Human	1	name
127287679	CV1163124	single nucleotide variant	NM_000404.4(GLB1):c.734-80G>A	Infantile GM1 gangliosidosis [RCV001527561]\|Mucopolysaccharidosis, MPS-IV-B [RCV001527562]\|not provided [RCV001538541]	benign\|likely benign	3	33053629	33053629	Human	2	name , alternate_id
127287682	CV1163125	single nucleotide variant	NM_000404.4(GLB1):c.734-99G>T	Infantile GM1 gangliosidosis [RCV001527563]\|Mucopolysaccharidosis, MPS-IV-B [RCV001527564]\|not provided [RCV001692445]	benign	3	33053648	33053648	Human	2	name , alternate_id
127287689	CV1163127	single nucleotide variant	NM_000404.4(GLB1):c.733+78A>G	Infantile GM1 gangliosidosis [RCV001527567]\|Mucopolysaccharidosis, MPS-IV-B [RCV001527568]\|not provided [RCV001615231]	benign\|likely benign	3	33058011	33058011	Human	2	name , alternate_id
150423733	CV1183323	single nucleotide variant	NM_000404.4(GLB1):c.245+44A>C	not provided [RCV001555723]	likely benign	3	33072500	33072500	Human		name
150407388	CV1190038	single nucleotide variant	NM_000404.4(GLB1):c.76-288A>G	not provided [RCV001565000]	likely benign	3	33073001	33073001	Human		name
150404322	CV1193294	single nucleotide variant	NM_000404.4(GLB1):c.457+53C>A	not provided [RCV001571053]	likely benign	3	33068177	33068177	Human		name
150474556	CV1202117	single nucleotide variant	NM_000404.4(GLB1):c.396+61G>A	not provided [RCV001589360]	likely benign	3	33068759	33068759	Human		name
150434789	CV1206835	single nucleotide variant	NM_000404.4(GLB1):c.793-69T>C	not provided [RCV001582184]	likely benign	3	33052073	33052073	Human		name
150485306	CV1273851	deletion	NM_000404.4(GLB1):c.955+93del	not provided [RCV001698695]	benign	3	33051665	33051665	Human		name
151791685	CV1409049	single nucleotide variant	NM_000404.4(GLB1):c.1479+1G>C	Mucopolysaccharidosis, MPS-IV-B [RCV001905463]	pathogenic	3	33016708	33016708	Human	1	name
151716769	CV1433757	single nucleotide variant	NM_000404.4(GLB1):c.1234-8C>G	Mucopolysaccharidosis, MPS-IV-B [RCV002024478]	likely benign\|uncertain significance	3	33018569	33018569	Human	1	name
151815833	CV1467635	single nucleotide variant	NM_000404.4(GLB1):c.1143+3A>C	Mucopolysaccharidosis, MPS-IV-B [RCV001952589]	uncertain significance	3	33024248	33024248	Human	1	name
151790945	CV1480519	single nucleotide variant	NM_000404.4(GLB1):c.552+18C>T	Mucopolysaccharidosis, MPS-IV-B [RCV001903911]	likely benign\|uncertain significance	3	33065445	33065445	Human	1	name
152082579	CV1525180	single nucleotide variant	NM_000404.4(GLB1):c.1069-8G>T	Mucopolysaccharidosis, MPS-IV-B [RCV002131009]\|not provided [RCV004711865]	likely benign	3	33024333	33024333	Human	1	name
152155753	CV1561012	single nucleotide variant	NM_000404.4(GLB1):c.1068+7G>A	Mucopolysaccharidosis, MPS-IV-B [RCV002102904]	likely benign	3	33046113	33046113	Human	1	name
152174923	CV1572790	single nucleotide variant	NM_000404.4(GLB1):c.792+19G>A	Mucopolysaccharidosis, MPS-IV-B [RCV002144603]	likely benign	3	33053472	33053472	Human	1	name
152026944	CV1583212	single nucleotide variant	NM_000404.4(GLB1):c.793-20A>G	Mucopolysaccharidosis, MPS-IV-B [RCV002084967]	likely benign	3	33052024	33052024	Human	1	name
8555886	CV15985	single nucleotide variant	NM_000404.4(GLB1):c.1480-2A>G	GM1 gangliosidosis [RCV001251276]\|GM1 gangliosidosis type 2 [RCV002496221]\|GM1-gangliosidosis, type I, with cardiac involvement [RCV000000996]\|Infantile GM1 gangliosidosis [RCV002470702]\|Mucopolysaccharidosis, MPS-IV-B [RCV000790562]\|Mucopolysaccharidosis, MPS-IV-B [RCV001049270]\|not provided [RCV00 ... (more) 2243610]	pathogenic	3	33014312	33014312	Human	4	name , alternate_id
152172270	CV1599055	single nucleotide variant	NM_000404.4(GLB1):c.915-17C>A	Mucopolysaccharidosis, MPS-IV-B [RCV002143721]	likely benign	3	33051815	33051815	Human	1	name
152069014	CV1640099	single nucleotide variant	NM_000404.4(GLB1):c.1735-4C>G	Mucopolysaccharidosis, MPS-IV-B [RCV002147822]	likely benign	3	32997348	32997348	Human	1	name
152064950	CV1652473	single nucleotide variant	NM_000404.4(GLB1):c.1480-9G>A	Mucopolysaccharidosis, MPS-IV-B [RCV002090768]	likely benign	3	33014319	33014319	Human	1	name
152173550	CV1662692	single nucleotide variant	NM_000404.4(GLB1):c.553-17T>C	Mucopolysaccharidosis, MPS-IV-B [RCV002144143]	likely benign	3	33058286	33058286	Human	1	name
156363487	CV1881522	single nucleotide variant	NM_000404.4(GLB1):c.397-11C>T	Mucopolysaccharidosis, MPS-IV-B [RCV003065790]	likely benign	3	33068301	33068301	Human	1	name
156418502	CV1922247	single nucleotide variant	NM_000404.4(GLB1):c.457+19C>T	Mucopolysaccharidosis, MPS-IV-B [RCV002611699]	likely benign	3	33068211	33068211	Human	1	name
156283176	CV1929584	single nucleotide variant	NM_000404.4(GLB1):c.246-11T>G	Mucopolysaccharidosis, MPS-IV-B [RCV002628504]	likely benign	3	33068981	33068981	Human	1	name
155963576	CV1931768	single nucleotide variant	NM_000404.4(GLB1):c.1234-3C>A	Mucopolysaccharidosis, MPS-IV-B [RCV002616849]	uncertain significance	3	33018564	33018564	Human	1	name
156230312	CV1959132	single nucleotide variant	NM_000404.4(GLB1):c.1734+4C>T	Mucopolysaccharidosis, MPS-IV-B [RCV002596784]	uncertain significance	3	33014052	33014052	Human	1	name
156050990	CV1974367	single nucleotide variant	NM_000404.4(GLB1):c.793-18G>A	Mucopolysaccharidosis, MPS-IV-B [RCV002590660]	likely benign	3	33052022	33052022	Human	1	name
155971793	CV1978452	single nucleotide variant	NM_000404.4(GLB1):c.914+15C>T	Mucopolysaccharidosis, MPS-IV-B [RCV002617216]	likely benign	3	33051868	33051868	Human	1	name
156080176	CV1982691	single nucleotide variant	NM_000404.4(GLB1):c.396+11C>G	Mucopolysaccharidosis, MPS-IV-B [RCV002638873]	likely benign	3	33068809	33068809	Human	1	name
156344923	CV1995106	single nucleotide variant	NM_000404.4(GLB1):c.1347+1G>T	GM1 gangliosidosis type 2 [RCV005034358]\|Mucopolysaccharidosis, MPS-IV-B [RCV002650519]	likely pathogenic	3	33018447	33018447	Human	2	name , alternate_id
156176015	CV2000406	single nucleotide variant	NM_000404.4(GLB1):c.246-10G>T	Mucopolysaccharidosis, MPS-IV-B [RCV002642873]	likely benign	3	33068980	33068980	Human	1	name
156369095	CV2007568	single nucleotide variant	NM_000404.4(GLB1):c.1735-8C>G	Mucopolysaccharidosis, MPS-IV-B [RCV002676770]	likely benign	3	32997352	32997352	Human	1	name
156332475	CV2075953	single nucleotide variant	NM_000404.4(GLB1):c.733+13A>T	Mucopolysaccharidosis, MPS-IV-B [RCV002835376]	likely benign	3	33058076	33058076	Human	1	name
156010411	CV2079597	single nucleotide variant	NM_000404.4(GLB1):c.397-19C>T	Mucopolysaccharidosis, MPS-IV-B [RCV002866074]	likely benign	3	33068309	33068309	Human	1	name
155916774	CV2091805	single nucleotide variant	NM_000404.4(GLB1):c.956-14T>C	Mucopolysaccharidosis, MPS-IV-B [RCV002903133]	likely benign	3	33046246	33046246	Human	1	name
155925185	CV2099524	single nucleotide variant	NM_000404.4(GLB1):c.1144-4T>C	Mucopolysaccharidosis, MPS-IV-B [RCV002903535]	likely benign	3	33021659	33021659	Human	1	name
155941406	CV2142967	single nucleotide variant	NM_000404.4(GLB1):c.552+19A>G	Mucopolysaccharidosis, MPS-IV-B [RCV002994077]	likely benign	3	33065444	33065444	Human	1	name
11551704	CV251096	single nucleotide variant	NM_000404.4(GLB1):c.733+42T>A	not specified [RCV000253375]	likely benign	3	33058047	33058047	Human		name
401720383	CV2737231	single nucleotide variant	NM_000404.4(GLB1):c.1347+1G>A	GLB1-related disorder [RCV003314170]	likely pathogenic	3	33018447	33018447	Human		name , trait
11586965	CV290779	single nucleotide variant	NM_000404.4(GLB1):c.1480-8C>G	GM1 gangliosidosis [RCV000376709]\|Mucopolysaccharidosis, MPS-IV-B [RCV000291569]\|Mucopolysaccharidosis, MPS-IV-B [RCV000875356]	likely benign\|uncertain significance	3	33014318	33014318	Human	2	name
405029426	CV3082562	single nucleotide variant	NM_000404.4(GLB1):c.914+17T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003786013]	likely benign	3	33051866	33051866	Human	1	name
405005547	CV3082757	deletion	NM_000404.4(GLB1):c.458-13del	Mucopolysaccharidosis, MPS-IV-B [RCV003783856]	benign	3	33065570	33065570	Human	1	name
404989428	CV3084089	single nucleotide variant	NM_000404.4(GLB1):c.734-11A>G	Mucopolysaccharidosis, MPS-IV-B [RCV003782281]	likely benign	3	33053560	33053560	Human	1	name
405024992	CV3085123	single nucleotide variant	NM_000404.4(GLB1):c.1234-1G>T	Mucopolysaccharidosis, MPS-IV-B [RCV003795989]	likely pathogenic	3	33018562	33018562	Human	1	name
404995198	CV3085350	single nucleotide variant	NM_000404.4(GLB1):c.734-14C>T	Mucopolysaccharidosis, MPS-IV-B [RCV003782881]	likely benign	3	33053563	33053563	Human	1	name
402524326	CV3086726	single nucleotide variant	NM_000404.4(GLB1):c.245+16T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003781343]	likely benign	3	33072528	33072528	Human	1	name
404984172	CV3087219	single nucleotide variant	NM_000404.4(GLB1):c.553-20T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003781682]	likely benign	3	33058289	33058289	Human	1	name
404984601	CV3087280	single nucleotide variant	NM_000404.4(GLB1):c.396+14G>T	Mucopolysaccharidosis, MPS-IV-B [RCV003781743]	likely benign	3	33068806	33068806	Human	1	name
402512444	CV3087392	single nucleotide variant	NM_000404.4(GLB1):c.458-14T>A	Mucopolysaccharidosis, MPS-IV-B [RCV003789743]	likely benign	3	33065571	33065571	Human	1	name
402513596	CV3087432	single nucleotide variant	NM_000404.4(GLB1):c.792+16G>C	Mucopolysaccharidosis, MPS-IV-B [RCV003789783]	likely benign	3	33053475	33053475	Human	1	name
405019470	CV3087895	single nucleotide variant	NM_000404.4(GLB1):c.733+11G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003795455]	likely benign	3	33058078	33058078	Human	1	name
402522742	CV3088254	single nucleotide variant	NM_000404.4(GLB1):c.246-13T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003790590]	likely benign	3	33068983	33068983	Human	1	name
404997736	CV3088635	single nucleotide variant	NM_000404.4(GLB1):c.793-13T>G	Mucopolysaccharidosis, MPS-IV-B [RCV003793413]	likely benign	3	33052017	33052017	Human	1	name
402508355	CV3088792	single nucleotide variant	NM_000404.4(GLB1):c.733+20G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003779996]	likely benign	3	33058069	33058069	Human	1	name
402510699	CV3089243	single nucleotide variant	NM_000404.4(GLB1):c.1234-8C>T	Mucopolysaccharidosis, MPS-IV-B [RCV003780275]	likely benign	3	33018569	33018569	Human	1	name
402490677	CV3090998	single nucleotide variant	NM_000404.4(GLB1):c.457+12C>A	Mucopolysaccharidosis, MPS-IV-B [RCV003787501]	likely benign	3	33068218	33068218	Human	1	name
404992712	CV3091436	single nucleotide variant	NM_000404.4(GLB1):c.552+13T>A	Mucopolysaccharidosis, MPS-IV-B [RCV003792911]	likely benign	3	33065450	33065450	Human	1	name
402518550	CV3091758	single nucleotide variant	NM_000404.4(GLB1):c.457+20T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003790204]	likely benign	3	33068210	33068210	Human	1	name
402518762	CV3091806	single nucleotide variant	NM_000404.4(GLB1):c.956-19G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003790252]	likely benign	3	33046251	33046251	Human	1	name
402520674	CV3091953	single nucleotide variant	NM_000404.4(GLB1):c.956-19G>T	Mucopolysaccharidosis, MPS-IV-B [RCV003790399]	likely benign	3	33046251	33046251	Human	1	name
402495691	CV3092440	single nucleotide variant	NM_000404.4(GLB1):c.457+15A>G	Mucopolysaccharidosis, MPS-IV-B [RCV003788060]	likely benign	3	33068215	33068215	Human	1	name
405030213	CV3092565	single nucleotide variant	NM_000404.4(GLB1):c.914+18G>T	Mucopolysaccharidosis, MPS-IV-B [RCV003786076]	likely benign	3	33051865	33051865	Human	1	name
405035748	CV3093182	single nucleotide variant	NM_000404.4(GLB1):c.734-17C>T	Mucopolysaccharidosis, MPS-IV-B [RCV003786533]	likely benign	3	33053566	33053566	Human	1	name
405019589	CV3094469	single nucleotide variant	NM_000404.4(GLB1):c.396+20G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003785159]	likely benign	3	33068800	33068800	Human	1	name
404990836	CV3094703	single nucleotide variant	NM_000404.4(GLB1):c.955+14A>C	Mucopolysaccharidosis, MPS-IV-B [RCV003792717]	likely benign	3	33051744	33051744	Human	1	name
405028149	CV3094855	single nucleotide variant	NM_000404.4(GLB1):c.1347+9C>A	Mucopolysaccharidosis, MPS-IV-B [RCV003796217]	likely benign	3	33018439	33018439	Human	1	name
405053375	CV3094922	single nucleotide variant	NM_000404.4(GLB1):c.734-16C>T	Mucopolysaccharidosis, MPS-IV-B [RCV003798236]	likely benign	3	33053565	33053565	Human	1	name
405054772	CV3095035	single nucleotide variant	NM_000404.4(GLB1):c.396+15A>G	Mucopolysaccharidosis, MPS-IV-B [RCV003798349]	likely benign	3	33068805	33068805	Human	1	name
405002624	CV3095604	duplication	NM_000404.4(GLB1):c.734-11dup	Mucopolysaccharidosis, MPS-IV-B [RCV003793909]	likely benign	3	33053559	33053560	Human	1	name
405005359	CV3096014	single nucleotide variant	NM_000404.4(GLB1):c.246-18C>T	Mucopolysaccharidosis, MPS-IV-B [RCV003794164]	likely benign	3	33068988	33068988	Human	1	name
405007675	CV3096200	single nucleotide variant	NM_000404.4(GLB1):c.245+13G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003794350]	likely benign	3	33072531	33072531	Human	1	name
405051589	CV3097883	single nucleotide variant	NM_000404.4(GLB1):c.457+14G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003808296]	likely benign	3	33068216	33068216	Human	1	name
405027846	CV3098122	single nucleotide variant	NM_000404.4(GLB1):c.458-13T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003806415]	likely benign	3	33065570	33065570	Human	1	name
404999615	CV3099180	single nucleotide variant	NM_000404.4(GLB1):c.1069-8G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003793601]	likely benign	3	33024333	33024333	Human	1	name
405020981	CV3101257	single nucleotide variant	NM_000404.4(GLB1):c.246-16G>C	Mucopolysaccharidosis, MPS-IV-B [RCV003805836]	likely benign	3	33068986	33068986	Human	1	name
405002604	CV3102090	duplication	NM_000404.4(GLB1):c.457+11dup	Mucopolysaccharidosis, MPS-IV-B [RCV003804135]	likely benign	3	33068218	33068219	Human	1	name
405039179	CV3103262	single nucleotide variant	NM_000404.4(GLB1):c.245+19G>T	Mucopolysaccharidosis, MPS-IV-B [RCV003797139]	likely benign	3	33072525	33072525	Human	1	name
405067977	CV3103505	single nucleotide variant	NM_000404.4(GLB1):c.246-20G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003799335]	likely benign	3	33068990	33068990	Human	1	name
405172908	CV3104702	single nucleotide variant	NM_000404.4(GLB1):c.245+19G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003803200]	likely benign	3	33072525	33072525	Human	1	name
405093072	CV3105203	single nucleotide variant	NM_000404.4(GLB1):c.1479+7C>T	Mucopolysaccharidosis, MPS-IV-B [RCV003801086]	likely benign	3	33016702	33016702	Human	1	name
405062512	CV3105371	single nucleotide variant	NM_000404.4(GLB1):c.734-10C>T	Mucopolysaccharidosis, MPS-IV-B [RCV003809135]	likely benign	3	33053559	33053559	Human	1	name
405093230	CV3105442	single nucleotide variant	NM_000404.4(GLB1):c.733+10T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003801158]	likely benign	3	33058079	33058079	Human	1	name
405081947	CV3107441	single nucleotide variant	NM_000404.4(GLB1):c.1347+7A>G	Mucopolysaccharidosis, MPS-IV-B [RCV003800311]	likely benign	3	33018441	33018441	Human	1	name
405055025	CV3107848	single nucleotide variant	NM_000404.4(GLB1):c.734-14C>G	Mucopolysaccharidosis, MPS-IV-B [RCV003808593]	likely benign	3	33053563	33053563	Human	1	name
405059866	CV3108349	single nucleotide variant	NM_000404.4(GLB1):c.915-14T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003808927]	likely benign	3	33051812	33051812	Human	1	name
405060381	CV3108390	single nucleotide variant	NM_000404.4(GLB1):c.915-18T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003808968]	likely benign	3	33051816	33051816	Human	1	name
405036268	CV3108643	single nucleotide variant	NM_000404.4(GLB1):c.397-17T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003807101]	likely benign	3	33068307	33068307	Human	1	name
405036964	CV3108702	single nucleotide variant	NM_000404.4(GLB1):c.915-11T>G	Mucopolysaccharidosis, MPS-IV-B [RCV003807160]	likely benign	3	33051809	33051809	Human	1	name
405161122	CV3109848	single nucleotide variant	NM_000404.4(GLB1):c.246-20G>C	Mucopolysaccharidosis, MPS-IV-B [RCV003802207]	likely benign	3	33068990	33068990	Human	1	name
405110903	CV3110719	single nucleotide variant	NM_000404.4(GLB1):c.1348-7C>G	Mucopolysaccharidosis, MPS-IV-B [RCV003813622]	likely benign	3	33016847	33016847	Human	1	name
405155516	CV3111309	single nucleotide variant	NM_000404.4(GLB1):c.246-10G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003801765]	likely benign	3	33068980	33068980	Human	1	name
405108542	CV3112334	single nucleotide variant	NM_000404.4(GLB1):c.245+10A>T	Mucopolysaccharidosis, MPS-IV-B [RCV003813177]	likely benign	3	33072534	33072534	Human	1	name
405107616	CV3113846	duplication	NM_000404.4(GLB1):c.1348-5dup	Mucopolysaccharidosis, MPS-IV-B [RCV003812969]	benign	3	33016844	33016845	Human	1	name
405691824	CV3227598	single nucleotide variant	NM_000404.4(GLB1):c.1068+1G>T	Infantile GM1 gangliosidosis [RCV003991944]	uncertain significance	3	33046119	33046119	Human	1	name , alternate_id
597896884	CV3866117	single nucleotide variant	NM_000404.4(GLB1):c.955+10C>T	Mucopolysaccharidosis, MPS-IV-B [RCV005219734]	likely benign	3	33051748	33051748	Human	1	name
597866462	CV3868924	deletion	NM_000404.4(GLB1):c.915-18del	Mucopolysaccharidosis, MPS-IV-B [RCV005215045]	likely benign	3	33051816	33051816	Human	1	name
597881271	CV3869104	single nucleotide variant	NM_000404.4(GLB1):c.397-10C>T	Mucopolysaccharidosis, MPS-IV-B [RCV005217360]	likely benign	3	33068300	33068300	Human	1	name
597881497	CV3869136	single nucleotide variant	NM_000404.4(GLB1):c.396+18G>T	Mucopolysaccharidosis, MPS-IV-B [RCV005217392]	likely benign	3	33068802	33068802	Human	1	name
597848995	CV3872902	single nucleotide variant	NM_000404.4(GLB1):c.396+10G>T	Mucopolysaccharidosis, MPS-IV-B [RCV005212539]	likely benign	3	33068810	33068810	Human	1	name
597911410	CV3879530	single nucleotide variant	NM_000404.4(GLB1):c.1068+4G>A	Mucopolysaccharidosis, MPS-IV-B [RCV005221931]	uncertain significance	3	33046116	33046116	Human	1	name
597912980	CV3879761	single nucleotide variant	NM_000404.4(GLB1):c.1143+1G>T	Mucopolysaccharidosis, MPS-IV-B [RCV005222162]	likely pathogenic	3	33024250	33024250	Human	1	name
597914093	CV3880083	single nucleotide variant	NM_000404.4(GLB1):c.792+18G>C	Mucopolysaccharidosis, MPS-IV-B [RCV005222322]	likely benign	3	33053473	33053473	Human	1	name
13517037	CV488253	single nucleotide variant	NM_000404.4(GLB1):c.552+21G>A	not provided [RCV001549772]\|not specified [RCV000596258]	benign\|likely benign	3	33065442	33065442	Human		name
13787220	CV542937	single nucleotide variant	NM_000404.4(GLB1):c.1144-2A>G	GM1 gangliosidosis type 2 [RCV000673337]\|Mucopolysaccharidosis, MPS-IV-B [RCV001071947]\|Mucopolysaccharidosis, MPS-IV-B [RCV003387908]	pathogenic\|likely pathogenic	3	33021657	33021657	Human	2	name , alternate_id
13788192	CV543181	single nucleotide variant	NM_000404.4(GLB1):c.1479+1G>A	GM1 gangliosidosis type 2 [RCV000673840]\|Mucopolysaccharidosis, MPS-IV-B [RCV001389790]\|not provided [RCV000731323]	pathogenic\|likely pathogenic	3	33016708	33016708	Human	2	name , alternate_id
13785786	CV543185	single nucleotide variant	NM_000404.4(GLB1):c.1233+1G>A	GLB1-related disorder [RCV004723054]\|GM1 gangliosidosis type 2 [RCV000672279]\|Mucopolysaccharidosis, MPS-IV-B [RCV001855576]	pathogenic\|likely pathogenic	3	33021565	33021565	Human	5	name , alternate_id
13787027	CV549549	single nucleotide variant	NM_000404.4(GLB1):c.793-19C>T	Mucopolysaccharidosis, MPS-IV-B [RCV002060833]\|not provided [RCV000675682]	benign	3	33052023	33052023	Human	1	name
14734746	CV659781	single nucleotide variant	NM_000404.4(GLB1):c.955+60A>G	Infantile GM1 gangliosidosis [RCV001527558]\|Mucopolysaccharidosis, MPS-IV-B [RCV001527559]\|not provided [RCV000837695]	benign	3	33051698	33051698	Human	2	name , alternate_id
15134688	CV774802	single nucleotide variant	NM_000404.4(GLB1):c.1144-8C>G	Mucopolysaccharidosis, MPS-IV-B [RCV000942789]	likely benign	3	33021663	33021663	Human	1	name
28878051	CV891636	single nucleotide variant	NM_000404.4(GLB1):c.1348-7C>T	GM1 gangliosidosis [RCV001148554]\|Mucopolysaccharidosis, MPS-IV-B [RCV001148555]\|Mucopolysaccharidosis, MPS-IV-B [RCV001501788]	likely benign\|uncertain significance	3	33016847	33016847	Human	2	name
28903328	CV891637	single nucleotide variant	NM_000404.4(GLB1):c.1069-4A>G	GM1 gangliosidosis [RCV001143991]\|Mucopolysaccharidosis, MPS-IV-B [RCV001143992]\|Mucopolysaccharidosis, MPS-IV-B [RCV001414861]	likely benign\|uncertain significance	3	33024329	33024329	Human	2	name
38456574	CV940747	single nucleotide variant	NM_000404.4(GLB1):c.1348-3C>G	Mucopolysaccharidosis, MPS-IV-B [RCV001217817]	likely pathogenic\|uncertain significance	3	33016843	33016843	Human	1	name
8639818	CV98801	single nucleotide variant	NM_000404.4(GLB1):c.1233+8T>C	GM1 gangliosidosis [RCV000300510]\|Infantile GM1 gangliosidosis [RCV001527524]\|Mucopolysaccharidosis, MPS-IV-B [RCV000353081]\|Mucopolysaccharidosis, MPS-IV-B [RCV001516016]\|not provided [RCV000675680]\|not specified [RCV000078700]	benign\|likely benign	3	33021558	33021558	Human	3	name , alternate_id
8639833	CV98816	single nucleotide variant	NM_000404.4(GLB1):c.458-11T>C	GM1 gangliosidosis [RCV000330647]\|Infantile GM1 gangliosidosis [RCV001527569]\|Mucopolysaccharidosis, MPS-IV-B [RCV000278028]\|Mucopolysaccharidosis, MPS-IV-B [RCV001518642]\|not provided [RCV000675684]\|not specified [RCV000078716]	benign\|likely benign	3	33065568	33065568	Human	3	name , alternate_id
8639838	CV98821	single nucleotide variant	NM_000404.4(GLB1):c.792+10G>T	GM1 gangliosidosis [RCV000361060]\|Infantile GM1 gangliosidosis [RCV001527560]\|Mucopolysaccharidosis, MPS-IV-B [RCV000264041]\|Mucopolysaccharidosis, MPS-IV-B [RCV001522843]\|not provided [RCV000675683]\|not specified [RCV000078722]	benign\|likely benign	3	33053481	33053481	Human	3	name , alternate_id
127290157	CV1113897	single nucleotide variant	NM_000404.4(GLB1):c.1735-10C>T	Mucopolysaccharidosis, MPS-IV-B [RCV001451132]	likely benign	3	32997354	32997354	Human	1	name
127330284	CV1134791	single nucleotide variant	NM_000404.4(GLB1):c.1234-10T>G	Mucopolysaccharidosis, MPS-IV-B [RCV001488010]	likely benign	3	33018571	33018571	Human	1	name
127287625	CV1163123	single nucleotide variant	NM_000404.4(GLB1):c.1233+91G>C	Infantile GM1 gangliosidosis [RCV001527522]\|Mucopolysaccharidosis, MPS-IV-B [RCV001527523]	likely benign	3	33021475	33021475	Human	2	name , alternate_id
127287686	CV1163126	single nucleotide variant	NM_000404.4(GLB1):c.734-112T>C	Infantile GM1 gangliosidosis [RCV001527565]\|Mucopolysaccharidosis, MPS-IV-B [RCV001527566]\|not provided [RCV001615230]	benign	3	33053661	33053661	Human	2	name , alternate_id
127287692	CV1163128	single nucleotide variant	NM_000404.4(GLB1):c.76-4426C>T	Infantile GM1 gangliosidosis [RCV001527570]\|Mucopolysaccharidosis, MPS-IV-B [RCV001527571]\|not provided [RCV001647357]	benign	3	33077139	33077139	Human	2	name , alternate_id
150408763	CV1176313	single nucleotide variant	NM_000404.4(GLB1):c.955+300G>A	not provided [RCV001546014]	likely benign	3	33051458	33051458	Human	3	name
150408763	CV1176313	single nucleotide variant	NM_000404.4(GLB1):c.955+300G>A	not provided [RCV001546014]	likely benign	3	33051458	33051459	Human	3	name
150416222	CV1179692	single nucleotide variant	NM_000404.4(GLB1):c.792+187C>G	not provided [RCV001549499]	likely benign	3	33053304	33053304	Human		name
150424281	CV1183322	deletion	NM_000404.4(GLB1):c.734-116del	not provided [RCV001556456]	likely benign	3	33053665	33053665	Human		name
150429047	CV1186577	single nucleotide variant	NM_000404.4(GLB1):c.1233+36A>G	not provided [RCV001563078]	likely benign	3	33021530	33021530	Human		name
150429259	CV1186578	single nucleotide variant	NM_000404.4(GLB1):c.1143+47G>A	not provided [RCV001563360]	likely benign	3	33024204	33024204	Human		name
150429360	CV1186579	single nucleotide variant	NM_000404.4(GLB1):c.793-246A>G	not provided [RCV001563495]	likely benign	3	33052250	33052250	Human		name
150419560	CV1193295	single nucleotide variant	NM_000404.4(GLB1):c.246-140G>A	not provided [RCV001569738]	likely benign	3	33069110	33069110	Human		name
150421392	CV1193296	single nucleotide variant	NM_000404.4(GLB1):c.245+141A>T	not provided [RCV001570528]	likely benign	3	33072403	33072403	Human		name
150416535	CV1197073	single nucleotide variant	NM_000404.4(GLB1):c.955+206A>G	not provided [RCV001575920]	likely benign	3	33051552	33051552	Human		name
150513856	CV1210734	single nucleotide variant	NM_000404.4(GLB1):c.76-4746T>C	not provided [RCV001598775]	benign	3	33077459	33077459	Human		name
150510490	CV1211731	single nucleotide variant	NM_000404.4(GLB1):c.246-252A>C	not provided [RCV001597626]	benign	3	33069222	33069222	Human		name
150455900	CV1220527	single nucleotide variant	NM_000404.4(GLB1):c.793-185C>G	not provided [RCV001612620]	benign	3	33052189	33052189	Human		name
150439892	CV1221373	deletion	NM_000404.4(GLB1):c.955+154del	not provided [RCV001610068]	benign	3	33051604	33051604	Human		name
150517274	CV1226722	single nucleotide variant	NM_000404.4(GLB1):c.1480-74C>G	not provided [RCV001639816]	benign	3	33014384	33014384	Human		name
150430099	CV1231974	single nucleotide variant	NM_000404.4(GLB1):c.955+144T>C	not provided [RCV001641236]	benign	3	33051614	33051614	Human		name
150504302	CV1240727	duplication	NM_000404.4(GLB1):c.955+123dup	not provided [RCV001657570]	benign	3	33051626	33051627	Human		name
150476806	CV1251919	single nucleotide variant	NM_000404.4(GLB1):c.792+250G>C	not provided [RCV001672118]	benign	3	33053241	33053241	Human		name
150485839	CV1262177	duplication	NM_000404.4(GLB1):c.955+139dup	not provided [RCV001686868]	benign	3	33051603	33051604	Human		name
150439844	CV1266832	single nucleotide variant	NM_000404.4(GLB1):c.956-190C>G	not provided [RCV001690267]	benign	3	33046422	33046422	Human		name
150467977	CV1269321	single nucleotide variant	NM_000404.4(GLB1):c.956-118G>C	not provided [RCV001694729]	benign	3	33046350	33046350	Human		name
150470468	CV1269850	single nucleotide variant	NM_000404.4(GLB1):c.457+283T>C	not provided [RCV001695137]	benign	3	33067947	33067947	Human		name
150477655	CV1272077	single nucleotide variant	NM_000404.4(GLB1):c.792+231G>A	not provided [RCV001696363]	benign	3	33053260	33053260	Human		name
150463960	CV1276302	single nucleotide variant	NM_000404.4(GLB1):c.457+154C>T	not provided [RCV001710247]	benign	3	33068076	33068076	Human		name
152114837	CV1537415	single nucleotide variant	NM_000404.4(GLB1):c.1068+20T>C	Mucopolysaccharidosis, MPS-IV-B [RCV002134962]	likely benign	3	33046100	33046100	Human	1	name
152155694	CV1560999	single nucleotide variant	NM_000404.4(GLB1):c.1234-17A>T	Mucopolysaccharidosis, MPS-IV-B [RCV002102894]	benign	3	33018578	33018578	Human	1	name
152113030	CV1585849	duplication	NM_000404.4(GLB1):c.1143+14dup	Mucopolysaccharidosis, MPS-IV-B [RCV002153307]	benign	3	33024236	33024237	Human	1	name
152053881	CV1595997	single nucleotide variant	NM_000404.4(GLB1):c.1348-16G>A	Mucopolysaccharidosis, MPS-IV-B [RCV002072702]	likely benign	3	33016856	33016856	Human	1	name
152093556	CV1631970	deletion	NM_000404.4(GLB1):c.1143+14del	Mucopolysaccharidosis, MPS-IV-B [RCV002132340]	benign	3	33024237	33024237	Human	1	name
152135753	CV1634499	single nucleotide variant	NM_000404.4(GLB1):c.1735-16G>C	Mucopolysaccharidosis, MPS-IV-B [RCV002218691]	likely benign	3	32997360	32997360	Human	1	name
156198614	CV1886089	single nucleotide variant	NM_000404.4(GLB1):c.1735-12C>G	Mucopolysaccharidosis, MPS-IV-B [RCV003084134]	likely benign	3	32997356	32997356	Human	1	name
156039555	CV1890926	single nucleotide variant	NM_000404.4(GLB1):c.1233+15G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003078459]	uncertain significance	3	33021551	33021551	Human	1	name
156023833	CV1895870	single nucleotide variant	NM_000404.4(GLB1):c.1233+19T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003100329]	likely benign	3	33021547	33021547	Human	1	name
156025589	CV1896188	single nucleotide variant	NM_000404.4(GLB1):c.1734+14T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003100410]	likely benign	3	33014042	33014042	Human	1	name
156210324	CV2032252	single nucleotide variant	NM_000404.4(GLB1):c.1068+18G>T	Mucopolysaccharidosis, MPS-IV-B [RCV002711739]	likely benign	3	33046102	33046102	Human	1	name
156067503	CV2054576	deletion	NM_000404.4(GLB1):c.69_75+1del	Mucopolysaccharidosis, MPS-IV-B [RCV002797298]	pathogenic	3	33097010	33097017	Human	1	name
156112501	CV2058318	single nucleotide variant	NM_000404.4(GLB1):c.1347+14C>T	Mucopolysaccharidosis, MPS-IV-B [RCV002824979]	likely benign	3	33018434	33018434	Human	1	name
155916807	CV2091811	deletion	NM_000404.4(GLB1):c.1143+15del	Mucopolysaccharidosis, MPS-IV-B [RCV002903135]	likely benign	3	33024236	33024236	Human	1	name
156229085	CV2093714	single nucleotide variant	NM_000404.4(GLB1):c.1234-20T>G	Mucopolysaccharidosis, MPS-IV-B [RCV002894484]	likely benign	3	33018581	33018581	Human	1	name
155928660	CV2095883	single nucleotide variant	NM_000404.4(GLB1):c.1069-19T>C	Mucopolysaccharidosis, MPS-IV-B [RCV002903705]	likely benign	3	33024344	33024344	Human	1	name
156319365	CV2111881	single nucleotide variant	NM_000404.4(GLB1):c.1234-19T>A	Mucopolysaccharidosis, MPS-IV-B [RCV002937648]	likely benign	3	33018580	33018580	Human	1	name
156068275	CV2167097	single nucleotide variant	NM_000404.4(GLB1):c.1144-12G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003019958]	likely benign	3	33021667	33021667	Human	1	name
155960447	CV2183428	deletion	NM_000404.4(GLB1):c.1233+10del	Mucopolysaccharidosis, MPS-IV-B [RCV003032911]	likely benign	3	33021556	33021556	Human	1	name
401926292	CV2827238	single nucleotide variant	NM_000404.4(GLB1):c.76-4429G>A	GLB1-related disorder [RCV004540669]\|not provided [RCV003437744]	likely benign	3	33077142	33077142	Human		name
401926294	CV2827239	single nucleotide variant	NM_000404.4(GLB1):c.76-4483G>A	GLB1-related disorder [RCV004540670]\|not provided [RCV003437745]	benign	3	33077196	33077196	Human		name
11586502	CV293941	single nucleotide variant	NM_000404.4(GLB1):c.1347+10G>A	GLB1-related disorder [RCV004530391]\|GM1 gangliosidosis [RCV000352478]\|Mucopolysaccharidosis, MPS-IV-B [RCV000288195]\|Mucopolysaccharidosis, MPS-IV-B [RCV000877602]	likely benign\|uncertain significance	3	33018438	33018438	Human	2	name
11598676	CV294406	single nucleotide variant	NM_000404.4(GLB1):c.1234-11T>A	GM1 gangliosidosis [RCV000349673]\|Mucopolysaccharidosis, MPS-IV-B [RCV000408323]\|Mucopolysaccharidosis, MPS-IV-B [RCV002520118]	likely benign\|uncertain significance	3	33018572	33018572	Human	2	name
405028643	CV3082445	single nucleotide variant	NM_000404.4(GLB1):c.1347+13T>G	Mucopolysaccharidosis, MPS-IV-B [RCV003785896]	likely benign	3	33018435	33018435	Human	1	name
405028422	CV3082504	single nucleotide variant	NM_000404.4(GLB1):c.1144-18G>C	Mucopolysaccharidosis, MPS-IV-B [RCV003785955]	likely benign	3	33021673	33021673	Human	1	name
405029004	CV3082549	single nucleotide variant	NM_000404.4(GLB1):c.1734+13A>T	Mucopolysaccharidosis, MPS-IV-B [RCV003786000]	likely benign	3	33014043	33014043	Human	1	name
405048170	CV3084351	single nucleotide variant	NM_000404.4(GLB1):c.1480-16T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003797757]	likely benign	3	33014326	33014326	Human	1	name
405048158	CV3084352	single nucleotide variant	NM_000404.4(GLB1):c.1347+19C>T	Mucopolysaccharidosis, MPS-IV-B [RCV003797758]	likely benign	3	33018429	33018429	Human	1	name
404997536	CV3085729	single nucleotide variant	NM_000404.4(GLB1):c.1479+19T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003783099]	likely benign	3	33016690	33016690	Human	1	name
404996944	CV3088560	single nucleotide variant	NM_000404.4(GLB1):c.1734+13A>G	Mucopolysaccharidosis, MPS-IV-B [RCV003793337]	likely benign	3	33014043	33014043	Human	1	name
402510086	CV3089188	single nucleotide variant	NM_000404.4(GLB1):c.1480-12T>G	Mucopolysaccharidosis, MPS-IV-B [RCV003780220]	likely benign	3	33014322	33014322	Human	1	name
402504014	CV3090136	single nucleotide variant	NM_000404.4(GLB1):c.1479+17T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003788903]	likely benign	3	33016692	33016692	Human	1	name
402498114	CV3092843	single nucleotide variant	NM_000404.4(GLB1):c.1347+18A>C	Mucopolysaccharidosis, MPS-IV-B [RCV003788307]	likely benign	3	33018430	33018430	Human	1	name
405034163	CV3093039	single nucleotide variant	NM_000404.4(GLB1):c.1068+14A>G	Mucopolysaccharidosis, MPS-IV-B [RCV003786390]	likely benign	3	33046106	33046106	Human	1	name
404990327	CV3094653	single nucleotide variant	NM_000404.4(GLB1):c.1234-13C>A	Mucopolysaccharidosis, MPS-IV-B [RCV003792666]	likely benign	3	33018574	33018574	Human	1	name
405054315	CV3094939	deletion	NM_000404.4(GLB1):c.1348-16del	Mucopolysaccharidosis, MPS-IV-B [RCV003798253]	likely benign	3	33016856	33016856	Human	1	name
405006425	CV3096086	single nucleotide variant	NM_000404.4(GLB1):c.1479+13A>G	Mucopolysaccharidosis, MPS-IV-B [RCV003794236]	likely benign	3	33016696	33016696	Human	1	name
404988884	CV3097130	single nucleotide variant	NM_000404.4(GLB1):c.1479+20C>G	Mucopolysaccharidosis, MPS-IV-B [RCV003792519]	likely benign	3	33016689	33016689	Human	1	name
405000097	CV3099231	single nucleotide variant	NM_000404.4(GLB1):c.1069-20T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003793652]	likely benign	3	33024345	33024345	Human	1	name
404980635	CV3099623	deletion	NM_000404.4(GLB1):c.1233+15del	Mucopolysaccharidosis, MPS-IV-B [RCV003791452]	likely benign	3	33021551	33021551	Human	1	name
404982981	CV3100166	single nucleotide variant	NM_000404.4(GLB1):c.1069-17T>G	Mucopolysaccharidosis, MPS-IV-B [RCV003791833]	likely benign	3	33024342	33024342	Human	1	name
404977368	CV3102673	single nucleotide variant	NM_000404.4(GLB1):c.1347+20T>C	Mucopolysaccharidosis, MPS-IV-B [RCV003790767]	likely benign	3	33018428	33018428	Human	1	name
404977461	CV3102692	single nucleotide variant	NM_000404.4(GLB1):c.1234-13C>G	Mucopolysaccharidosis, MPS-IV-B [RCV003790786]	likely benign	3	33018574	33018574	Human	1	name
405042481	CV3103702	single nucleotide variant	NM_000404.4(GLB1):c.1143+11A>G	Mucopolysaccharidosis, MPS-IV-B [RCV003797420]	likely benign	3	33024240	33024240	Human	1	name
405015550	CV3104462	single nucleotide variant	NM_000404.4(GLB1):c.1068+18G>C	Mucopolysaccharidosis, MPS-IV-B [RCV003805331]	likely benign	3	33046102	33046102	Human	1	name
405014885	CV3106676	single nucleotide variant	NM_000404.4(GLB1):c.1143+16A>T	Mucopolysaccharidosis, MPS-IV-B [RCV003795013]	likely benign	3	33024235	33024235	Human	1	name
405061869	CV3108534	single nucleotide variant	NM_000404.4(GLB1):c.1068+18G>A	Mucopolysaccharidosis, MPS-IV-B [RCV003809112]	likely benign	3	33046102	33046102	Human	1	name
405110849	CV3110686	single nucleotide variant	NM_000404.4(GLB1):c.1233+12A>G	Mucopolysaccharidosis, MPS-IV-B [RCV003813589]	likely benign	3	33021554	33021554	Human	1	name
405107501	CV3113818	single nucleotide variant	NM_000404.4(GLB1):c.1233+13A>C	Mucopolysaccharidosis, MPS-IV-B [RCV003812941]	likely benign	3	33021553	33021553	Human	1	name
405282445	CV3191014	single nucleotide variant	NM_000404.4(GLB1):c.76-4414C>T	GLB1-related disorder [RCV004537118]	likely benign	3	33077127	33077127	Human		name , trait
405293059	CV3207216	single nucleotide variant	NM_000404.4(GLB1):c.76-4376G>A	GLB1-related disorder [RCV004539491]	benign\|likely benign	3	33077089	33077089	Human		name , trait
405278241	CV3216456	single nucleotide variant	NM_000404.4(GLB1):c.76-4520G>A	GLB1-related disorder [RCV004544135]	benign	3	33077233	33077233	Human		name , trait
597841423	CV3868267	single nucleotide variant	NM_000404.4(GLB1):c.1347+16G>C	Mucopolysaccharidosis, MPS-IV-B [RCV005211300]	likely benign	3	33018432	33018432	Human	1	name
597862232	CV3875185	single nucleotide variant	NM_000404.4(GLB1):c.1347+12C>T	Mucopolysaccharidosis, MPS-IV-B [RCV005214362]	likely benign	3	33018436	33018436	Human	1	name
13784671	CV543224	deletion	NM_000404.4(GLB1):c.65_75+1del	GM1 gangliosidosis type 2 [RCV000671128]\|Infantile GM1 gangliosidosis [RCV003155274]\|Mucopolysaccharidosis, MPS-IV-B [RCV001861803]\|not provided [RCV001784268]	pathogenic\|likely pathogenic	3	33097010	33097021	Human	3	name , alternate_id
13787023	CV549548	single nucleotide variant	NM_000404.4(GLB1):c.1143+28G>C	not provided [RCV000675681]	likely benign	3	33024223	33024223	Human		name
14734238	CV659724	single nucleotide variant	NM_000404.4(GLB1):c.553-119A>G	not provided [RCV000837463]	benign	3	33058388	33058388	Human		name
14734624	CV659883	single nucleotide variant	NM_000404.4(GLB1):c.396+122C>A	not provided [RCV000837640]	benign	3	33068698	33068698	Human		name
14734743	CV659984	single nucleotide variant	NM_000404.4(GLB1):c.793-132T>G	not provided [RCV000837694]	benign	3	33052136	33052136	Human		name
14735598	CV659990	single nucleotide variant	NM_000404.4(GLB1):c.457+235A>G	not provided [RCV000838084]	benign	3	33067995	33067995	Human		name
14734621	CV659991	single nucleotide variant	NM_000404.4(GLB1):c.246-194A>G	not provided [RCV000837639]	benign	3	33069164	33069164	Human		name
15168073	CV777248	single nucleotide variant	NM_000404.4(GLB1):c.1735-10C>G	Mucopolysaccharidosis, MPS-IV-B [RCV000949183]	likely benign	3	32997354	32997354	Human	1	name
28878045	CV891635	single nucleotide variant	NM_000404.4(GLB1):c.1479+11C>T	GM1 gangliosidosis [RCV001148553]\|Mucopolysaccharidosis, MPS-IV-B [RCV001148552]\|Mucopolysaccharidosis, MPS-IV-B [RCV002070801]	likely benign\|uncertain significance	3	33016698	33016698	Human	2	name
150405024	CV1176311	single nucleotide variant	NM_000404.4(GLB1):c.1734+169G>A	not provided [RCV001544675]	likely benign	3	33013887	33013887	Human		name
150415591	CV1176312	single nucleotide variant	NM_000404.4(GLB1):c.1068+291A>C	not provided [RCV001548648]	likely benign	3	33045829	33045829	Human		name
150435038	CV1206897	single nucleotide variant	NM_000404.4(GLB1):c.1480-295A>G	not provided [RCV001582246]	likely benign	3	33014605	33014605	Human		name
150491653	CV1210400	single nucleotide variant	NM_000404.4(GLB1):c.1234-307G>A	not provided [RCV001592682]	likely benign	3	33018868	33018868	Human		name
150510870	CV1210604	single nucleotide variant	NM_000404.4(GLB1):c.1480-272T>C	not provided [RCV001597783]	benign	3	33014582	33014582	Human		name
150512061	CV1212906	single nucleotide variant	NM_000404.4(GLB1):c.1480-320C>A	not provided [RCV001598138]	benign	3	33014630	33014630	Human		name
150470131	CV1219190	single nucleotide variant	NM_000404.4(GLB1):c.1734+233C>T	not provided [RCV001614942]	benign	3	33013823	33013823	Human		name
150455473	CV1220465	single nucleotide variant	NM_000404.4(GLB1):c.1068+217G>T	not provided [RCV001612558]	benign	3	33045903	33045903	Human		name
150482475	CV1221059	single nucleotide variant	NM_000404.4(GLB1):c.1347+208A>G	not provided [RCV001617144]	benign	3	33018240	33018240	Human		name
150499526	CV1224605	single nucleotide variant	NM_000404.4(GLB1):c.1069-231G>A	not provided [RCV001620436]	benign	3	33024556	33024556	Human		name
150431134	CV1235346	single nucleotide variant	NM_000404.4(GLB1):c.1347+194G>T	not provided [RCV001641716]	benign	3	33018254	33018254	Human		name
150489392	CV1236357	single nucleotide variant	NM_000404.4(GLB1):c.1068+264G>A	not provided [RCV001654498]	benign	3	33045856	33045856	Human		name
150456112	CV1236841	single nucleotide variant	NM_000404.4(GLB1):c.1234-177C>T	not provided [RCV001648577]	benign	3	33018738	33018738	Human		name
150488234	CV1237448	single nucleotide variant	NM_000404.4(GLB1):c.1479+204A>G	not provided [RCV001654297]	benign	3	33016505	33016505	Human		name
150477473	CV1240035	single nucleotide variant	NM_000404.4(GLB1):c.1480-149T>C	not provided [RCV001652213]	benign	3	33014459	33014459	Human		name
150472136	CV1270206	single nucleotide variant	NM_000404.4(GLB1):c.1233+174G>T	not provided [RCV001695494]	benign	3	33021392	33021392	Human		name
150490791	CV1279969	single nucleotide variant	NM_000404.4(GLB1):c.1144-256C>G	not provided [RCV001716534]	benign	3	33021911	33021911	Human		name
150471655	CV1281039	single nucleotide variant	NM_000404.4(GLB1):c.1734+188C>T	not provided [RCV001713230]	benign	3	33013868	33013868	Human		name
150444580	CV1288043	single nucleotide variant	NM_000404.4(GLB1):c.1233+218C>T	not provided [RCV001725765]	benign	3	33021348	33021348	Human		name
155989004	CV2026823	microsatellite	NM_000404.4(GLB1):c.246-16GT[2]	GLB1-related disorder [RCV004545385]\|Mucopolysaccharidosis, MPS-IV-B [RCV002755666]	likely benign\|uncertain significance	3	33068979	33068982	Human		name
127251616	CV1070683	microsatellite	NM_000404.4(GLB1):c.1735-15TC[4]	Mucopolysaccharidosis, MPS-IV-B [RCV001400149]	likely benign	3	32997348	32997351	Human		name
127283332	CV1070684	microsatellite	NM_000404.4(GLB1):c.1735-15TC[5]	Mucopolysaccharidosis, MPS-IV-B [RCV001411711]	likely benign	3	32997348	32997349	Human		name
8555883	CV15966	duplication	NM_000404.2(GLB1):c.1069_1233dup	Infantile GM1 gangliosidosis [RCV000000975]	pathogenic				Human	1	name , alternate_id
155911858	CV1935193	deletion	NM_000404.4(GLB1):c.75+3_75+4del	Infantile GM1 gangliosidosis [RCV002510481]	uncertain significance	3	33097007	33097008	Human	1	name , alternate_id
11592941	CV290017	microsatellite	NM_000404.4(GLB1):c.1735-15TC[7]	GM1 gangliosidosis [RCV000405716]\|Morquio syndrome [RCV000343636]\|Mucopolysaccharidosis, MPS-IV-B [RCV001419273]	likely benign\|uncertain significance	3	32997347	32997348	Human		name
13786247	CV543190	deletion	NM_000404.4(GLB1):c.769_792+13del	GM1 gangliosidosis type 2 [RCV000672678]\|Mucopolysaccharidosis, MPS-IV-B [RCV001043055]	pathogenic\|likely pathogenic	3	33053478	33053514	Human	2	name , alternate_id
152137384	CV1563389	single nucleotide variant	NM_000404.4(GLB1):c.9G>A (p.Gly3=)	Mucopolysaccharidosis, MPS-IV-B [RCV002200127]	likely benign	3	33097077	33097077	Human	1	name
405047440	CV3084402	single nucleotide variant	NM_000404.4(GLB1):c.6G>A (p.Pro2=)	Mucopolysaccharidosis, MPS-IV-B [RCV003797808]	likely benign	3	33097080	33097080	Human	1	name
597861047	CV3865296	single nucleotide variant	NM_000404.4(GLB1):c.9G>C (p.Gly3=)	Mucopolysaccharidosis, MPS-IV-B [RCV005214190]	likely benign	3	33097077	33097077	Human	1	name
13788602	CV543114	deletion	NM_000404.4(GLB1):c.733+2_733+4del	GM1 gangliosidosis type 2 [RCV000674052]	likely pathogenic	3	33058085	33058087	Human	1	name , alternate_id
127305714	CV1134802	single nucleotide variant	NM_000404.4(GLB1):c.27C>T (p.Leu9=)	Mucopolysaccharidosis, MPS-IV-B [RCV001479824]	likely benign	3	33097059	33097059	Human	1	name
151351354	CV1323497	deletion	NM_000404.4(GLB1):c.246-17_246-3del	Infantile GM1 gangliosidosis [RCV001806353]	likely pathogenic	3	33068973	33068987	Human	1	name , alternate_id
152034726	CV1639550	single nucleotide variant	NM_000404.4(GLB1):c.15G>T (p.Leu5=)	Mucopolysaccharidosis, MPS-IV-B [RCV002187304]	likely benign	3	33097071	33097071	Human	1	name
155942674	CV2039290	single nucleotide variant	NM_000404.4(GLB1):c.27C>G (p.Leu9=)	Mucopolysaccharidosis, MPS-IV-B [RCV002775296]	likely benign	3	33097059	33097059	Human	1	name
405043480	CV3103776	single nucleotide variant	NM_000404.4(GLB1):c.12C>T (p.Phe4=)	Mucopolysaccharidosis, MPS-IV-B [RCV003797494]	likely benign	3	33097074	33097074	Human	1	name
127267519	CV1092391	single nucleotide variant	NM_000404.4(GLB1):c.42T>C (p.Val14=)	Mucopolysaccharidosis, MPS-IV-B [RCV001429728]	likely benign	3	33097044	33097044	Human	1	name
127283264	CV1092392	single nucleotide variant	NM_000404.4(GLB1):c.31C>T (p.Leu11=)	Mucopolysaccharidosis, MPS-IV-B [RCV001448423]	likely benign	3	33097055	33097055	Human	1	name
127307970	CV1113918	single nucleotide variant	NM_000404.4(GLB1):c.66C>T (p.Arg22=)	Mucopolysaccharidosis, MPS-IV-B [RCV001455939]	likely benign	3	33097020	33097020	Human	1	name
151799717	CV1369756	single nucleotide variant	NM_000404.4(GLB1):c.69C>A (p.Gly23=)	Mucopolysaccharidosis, MPS-IV-B [RCV001920776]	likely benign	3	33097017	33097017	Human	1	name
151714374	CV1408801	single nucleotide variant	NM_000404.4(GLB1):c.4C>G (p.Pro2Ala)	Mucopolysaccharidosis, MPS-IV-B [RCV002015648]	uncertain significance	3	33097082	33097082	Human	1	name
152084384	CV1525475	single nucleotide variant	NM_000404.4(GLB1):c.63G>A (p.Thr21=)	Mucopolysaccharidosis, MPS-IV-B [RCV002131238]	likely benign	3	33097023	33097023	Human	1	name
152124566	CV1564171	single nucleotide variant	NM_000404.4(GLB1):c.78T>C (p.Asn26=)	Mucopolysaccharidosis, MPS-IV-B [RCV002176018]	likely benign	3	33072711	33072711	Human	1	name
152042889	CV1637600	single nucleotide variant	NM_000404.4(GLB1):c.84C>T (p.Thr28=)	Mucopolysaccharidosis, MPS-IV-B [RCV002144734]	likely benign	3	33072705	33072705	Human	1	name
10047475	CV190258	single nucleotide variant	NM_000404.4(GLB1):c.1A>C (p.Met1Leu)	not provided [RCV000173126]	likely pathogenic	3	33097085	33097085	Human		name
156413330	CV1904837	single nucleotide variant	NM_000404.4(GLB1):c.81C>T (p.Ala27=)	Mucopolysaccharidosis, MPS-IV-B [RCV002588130]	likely benign	3	33072708	33072708	Human	1	name
156034899	CV1932643	single nucleotide variant	NM_000404.4(GLB1):c.5C>T (p.Pro2Leu)	Mucopolysaccharidosis, MPS-IV-B [RCV002637327]	uncertain significance	3	33097081	33097081	Human	1	name
156114821	CV1952260	single nucleotide variant	NM_000404.4(GLB1):c.3G>A (p.Met1Ile)	Infantile GM1 gangliosidosis [RCV002571631]	likely pathogenic	3	33097083	33097083	Human	1	name , alternate_id
156329630	CV2065108	single nucleotide variant	NM_000404.4(GLB1):c.37C>T (p.Leu13=)	Mucopolysaccharidosis, MPS-IV-B [RCV002835222]	likely benign	3	33097049	33097049	Human	1	name
11594724	CV290021	single nucleotide variant	NM_000404.4(GLB1):c.4C>A (p.Pro2Thr)	GM1 gangliosidosis [RCV000310011]\|Inborn genetic diseases [RCV002520119]\|Mucopolysaccharidosis, MPS-IV-B [RCV000362274]\|Mucopolysaccharidosis, MPS-IV-B [RCV002520120]	uncertain significance	3	33097082	33097082	Human	3	name
405020650	CV3101223	single nucleotide variant	NM_000404.4(GLB1):c.45G>C (p.Leu15=)	Mucopolysaccharidosis, MPS-IV-B [RCV003805802]	likely benign	3	33097041	33097041	Human	1	name
405056549	CV3102336	single nucleotide variant	NM_000404.4(GLB1):c.70T>C (p.Leu24=)	Mucopolysaccharidosis, MPS-IV-B [RCV003798478]	likely benign	3	33097016	33097016	Human	1	name
405037869	CV3106335	single nucleotide variant	NM_000404.4(GLB1):c.33G>C (p.Leu11=)	Mucopolysaccharidosis, MPS-IV-B [RCV003797026]	likely benign	3	33097053	33097053	Human	1	name
597897998	CV3875978	single nucleotide variant	NM_000404.4(GLB1):c.39G>A (p.Leu13=)	Mucopolysaccharidosis, MPS-IV-B [RCV005219868]	likely benign	3	33097047	33097047	Human	1	name
15117268	CV781643	single nucleotide variant	NM_000404.4(GLB1):c.69C>G (p.Gly23=)	Mucopolysaccharidosis, MPS-IV-B [RCV001409590]	likely benign	3	33097017	33097017	Human	1	name
38469643	CV953436	single nucleotide variant	NM_000404.4(GLB1):c.5C>G (p.Pro2Arg)	Mucopolysaccharidosis, MPS-IV-B [RCV001248682]	likely benign\|uncertain significance	3	33097081	33097081	Human	1	name
8639829	CV98812	single nucleotide variant	NM_000404.4(GLB1):c.34T>C (p.Leu12=)	GM1 gangliosidosis [RCV000302471]\|GM1 gangliosidosis type 2 [RCV001701492]\|GM1 gangliosidosis type 3 [RCV001701493]\|Infantile GM1 gangliosidosis [RCV001527572]\|Mucopolysaccharidosis, MPS-IV-B [RCV000392270]\|Mucopolysaccharidosis, MPS-IV-B [RCV001518401]\|not provided [RCV000675687]\|not specified [RCV ... (more) 000078712]	likely pathogenic\|benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	3	33097052	33097052	Human	5	name , alternate_id
127284089	CV1070686	duplication	NM_000404.4(GLB1):c.1735-16_1735-9dup	Mucopolysaccharidosis, MPS-IV-B [RCV001412232]	likely benign	3	32997352	32997353	Human	1	name
127281676	CV1070701	single nucleotide variant	NM_000404.4(GLB1):c.229C>T (p.Leu77=)	Mucopolysaccharidosis, MPS-IV-B [RCV001410632]	likely benign	3	33072560	33072560	Human	1	name
127234165	CV1070702	single nucleotide variant	NM_000404.4(GLB1):c.105C>T (p.Asp35=)	Mucopolysaccharidosis, MPS-IV-B [RCV001396379]	likely benign	3	33072684	33072684	Human	1	name
127287825	CV1113917	single nucleotide variant	NM_000404.4(GLB1):c.132T>C (p.Asp44=)	Mucopolysaccharidosis, MPS-IV-B [RCV001450237]	likely benign	3	33072657	33072657	Human	1	name
127303044	CV1134800	single nucleotide variant	NM_000404.4(GLB1):c.150C>T (p.Tyr50=)	Mucopolysaccharidosis, MPS-IV-B [RCV001479134]	likely benign	3	33072639	33072639	Human	1	name
127322813	CV1134801	single nucleotide variant	NM_000404.4(GLB1):c.123C>T (p.Phe41=)	Mucopolysaccharidosis, MPS-IV-B [RCV001505229]	likely benign	3	33072666	33072666	Human	1	name
151808593	CV1389548	single nucleotide variant	NM_000404.4(GLB1):c.20G>C (p.Arg7Pro)	Mucopolysaccharidosis, MPS-IV-B [RCV001937147]	uncertain significance	3	33097066	33097066	Human	1	name
151797093	CV1431319	single nucleotide variant	NM_000404.4(GLB1):c.270G>A (p.Glu90=)	Mucopolysaccharidosis, MPS-IV-B [RCV001915028]	likely benign	3	33068946	33068946	Human	1	name
152097001	CV1566151	indel	NM_000404.4(GLB1):c.76-9_76-8delinsAA	Mucopolysaccharidosis, MPS-IV-B [RCV002094981]	likely benign	3	33072721	33072722	Human		name
152121868	CV1570329	single nucleotide variant	NM_000404.4(GLB1):c.138G>A (p.Gln46=)	Mucopolysaccharidosis, MPS-IV-B [RCV002216890]	likely benign	3	33072651	33072651	Human	1	name
152109902	CV1617569	single nucleotide variant	NM_000404.4(GLB1):c.141A>G (p.Pro47=)	Mucopolysaccharidosis, MPS-IV-B [RCV002116414]	likely benign	3	33072648	33072648	Human	1	name
152074492	CV1620405	single nucleotide variant	NM_000404.4(GLB1):c.228G>C (p.Gly76=)	Mucopolysaccharidosis, MPS-IV-B [RCV002111910]	likely benign	3	33072561	33072561	Human	1	name
152084020	CV1662903	single nucleotide variant	NM_000404.4(GLB1):c.192C>T (p.Tyr64=)	Mucopolysaccharidosis, MPS-IV-B [RCV002170921]	likely benign	3	33072597	33072597	Human	1	name
152053127	CV1665155	single nucleotide variant	NM_000404.4(GLB1):c.126C>G (p.Leu42=)	Mucopolysaccharidosis, MPS-IV-B [RCV002089405]	likely benign	3	33072663	33072663	Human	1	name
156222367	CV1934315	single nucleotide variant	NM_000404.4(GLB1):c.126C>A (p.Leu42=)	Mucopolysaccharidosis, MPS-IV-B [RCV002644460]	likely benign	3	33072663	33072663	Human	1	name
156437320	CV1937458	single nucleotide variant	NM_000404.4(GLB1):c.126C>T (p.Leu42=)	Mucopolysaccharidosis, MPS-IV-B [RCV003106852]	likely benign	3	33072663	33072663	Human	1	name
155963874	CV2080620	single nucleotide variant	NM_000404.4(GLB1):c.165T>C (p.Ile55=)	Mucopolysaccharidosis, MPS-IV-B [RCV002862987]	likely benign	3	33072624	33072624	Human	1	name
155978913	CV2166893	single nucleotide variant	NM_000404.4(GLB1):c.228G>A (p.Gly76=)	Mucopolysaccharidosis, MPS-IV-B [RCV003033786]	likely benign	3	33072561	33072561	Human	1	name
156017211	CV2177598	single nucleotide variant	NM_000404.4(GLB1):c.261C>T (p.Asn87=)	Mucopolysaccharidosis, MPS-IV-B [RCV003035546]	likely benign	3	33068955	33068955	Human	1	name
11551291	CV251092	single nucleotide variant	NM_000404.4(GLB1):c.1561= (p.Cys521=)	Mucopolysaccharidosis, MPS-IV-B [RCV000548417]\|not specified [RCV000252845]	benign	3	33014229	33014229	Human	1	name
11592793	CV293942	single nucleotide variant	NM_000404.4(GLB1):c.234C>T (p.Asn78=)	GM1 gangliosidosis [RCV000279897]\|Mucopolysaccharidosis, MPS-IV-B [RCV000341987]\|Mucopolysaccharidosis, MPS-IV-B [RCV000875466]	likely benign\|uncertain significance	3	33072555	33072555	Human	2	name
405003678	CV3086495	single nucleotide variant	NM_000404.4(GLB1):c.210G>A (p.Leu70=)	Mucopolysaccharidosis, MPS-IV-B [RCV003783709]	likely benign	3	33072579	33072579	Human	1	name
404984886	CV3087317	single nucleotide variant	NM_000404.4(GLB1):c.174C>G (p.Ser58=)	Mucopolysaccharidosis, MPS-IV-B [RCV003781780]	likely benign	3	33072615	33072615	Human	1	name
405005941	CV3095935	single nucleotide variant	NM_000404.4(GLB1):c.114G>A (p.Arg38=)	Mucopolysaccharidosis, MPS-IV-B [RCV003794085]	likely benign	3	33072675	33072675	Human	1	name
405127203	CV3112033	single nucleotide variant	NM_000404.4(GLB1):c.279A>G (p.Pro93=)	Mucopolysaccharidosis, MPS-IV-B [RCV003815506]	likely benign	3	33068937	33068937	Human	1	name
597638583	CV3717471	deletion	NM_000404.4(GLB1):c.47del (p.Leu16fs)	GM1 gangliosidosis type 2 [RCV005024603]	likely pathogenic	3	33097039	33097039	Human	1	name , alternate_id
597638588	CV3717472	duplication	NM_000404.4(GLB1):c.29dup (p.Leu11fs)	GM1 gangliosidosis type 2 [RCV005024604]	likely pathogenic	3	33097056	33097057	Human	1	name , alternate_id
597883490	CV3866008	single nucleotide variant	NM_000404.4(GLB1):c.112C>A (p.Arg38=)	Mucopolysaccharidosis, MPS-IV-B [RCV005217673]	likely benign	3	33072677	33072677	Human	1	name
15191530	CV763822	single nucleotide variant	NM_000404.4(GLB1):c.204G>T (p.Arg68=)	Mucopolysaccharidosis, MPS-IV-B [RCV001396744]	likely benign	3	33072585	33072585	Human	1	name
8639835	CV98818	duplication	NM_000404.4(GLB1):c.51dup (p.Leu18fs)	Mucopolysaccharidosis, MPS-IV-B [RCV001854386]\|not provided [RCV000173123]	pathogenic	3	33097034	33097035	Human	1	name
126913887	CV1037351	single nucleotide variant	NM_000404.4(GLB1):c.486G>A (p.Leu162=)	Mucopolysaccharidosis, MPS-IV-B [RCV002547671]\|not provided [RCV001357779]	likely benign\|uncertain significance	3	33065529	33065529	Human	1	name
127251158	CV1070691	single nucleotide variant	NM_000404.4(GLB1):c.975A>G (p.Ala325=)	Mucopolysaccharidosis, MPS-IV-B [RCV001417724]	likely benign	3	33046213	33046213	Human	1	name
127241453	CV1070693	single nucleotide variant	NM_000404.4(GLB1):c.876C>G (p.Ser292=)	Mucopolysaccharidosis, MPS-IV-B [RCV001393152]	likely benign	3	33051921	33051921	Human	1	name
127233262	CV1070694	single nucleotide variant	NM_000404.4(GLB1):c.717G>T (p.Thr239=)	Mucopolysaccharidosis, MPS-IV-B [RCV001396054]	likely benign	3	33058105	33058105	Human	1	name
127257386	CV1070695	single nucleotide variant	NM_000404.4(GLB1):c.678A>G (p.Thr226=)	Mucopolysaccharidosis, MPS-IV-B [RCV001401445]	likely benign	3	33058144	33058144	Human	1	name
127231475	CV1070696	single nucleotide variant	NM_000404.4(GLB1):c.669A>G (p.Ala223=)	Mucopolysaccharidosis, MPS-IV-B [RCV001395340]	likely benign	3	33058153	33058153	Human	1	name
127240619	CV1070697	single nucleotide variant	NM_000404.4(GLB1):c.519C>G (p.Leu173=)	Mucopolysaccharidosis, MPS-IV-B [RCV001397804]	likely benign	3	33065496	33065496	Human	1	name
127284100	CV1070698	single nucleotide variant	NM_000404.4(GLB1):c.496C>T (p.Leu166=)	Mucopolysaccharidosis, MPS-IV-B [RCV001412247]	likely benign	3	33065519	33065519	Human	1	name
127278070	CV1070699	single nucleotide variant	NM_000404.4(GLB1):c.366C>T (p.Pro122=)	Mucopolysaccharidosis, MPS-IV-B [RCV001408256]	likely benign	3	33068850	33068850	Human	1	name
127240436	CV1070700	single nucleotide variant	NM_000404.4(GLB1):c.327G>T (p.Arg109=)	Mucopolysaccharidosis, MPS-IV-B [RCV001397771]	likely benign	3	33068889	33068889	Human	1	name
127245243	CV1092379	single nucleotide variant	NM_000404.4(GLB1):c.972T>C (p.Tyr324=)	Mucopolysaccharidosis, MPS-IV-B [RCV001424269]	likely benign	3	33046216	33046216	Human	1	name
127243161	CV1092381	single nucleotide variant	NM_000404.4(GLB1):c.948T>C (p.Tyr316=)	Mucopolysaccharidosis, MPS-IV-B [RCV001434773]	likely benign	3	33051765	33051765	Human	1	name
127247493	CV1092382	single nucleotide variant	NM_000404.4(GLB1):c.903G>A (p.Ala301=)	Mucopolysaccharidosis, MPS-IV-B [RCV001424714]	likely benign	3	33051894	33051894	Human	1	name
127263350	CV1092383	single nucleotide variant	NM_000404.4(GLB1):c.879C>T (p.Leu293=)	Mucopolysaccharidosis, MPS-IV-B [RCV001439263]	likely benign	3	33051918	33051918	Human	1	name
127254552	CV1092386	single nucleotide variant	NM_000404.4(GLB1):c.546A>G (p.Thr182=)	Inborn genetic diseases [RCV004038237]\|Mucopolysaccharidosis, MPS-IV-B [RCV001426326]	likely benign	3	33065469	33065469	Human	2	name
127265607	CV1092387	single nucleotide variant	NM_000404.4(GLB1):c.336T>C (p.His112=)	Mucopolysaccharidosis, MPS-IV-B [RCV001429140]	likely benign	3	33068880	33068880	Human	1	name
127246184	CV1092390	single nucleotide variant	NM_000404.4(GLB1):c.61A>G (p.Thr21Ala)	Inborn genetic diseases [RCV002555195]\|Mucopolysaccharidosis, MPS-IV-B [RCV001435358]\|not provided [RCV002261364]	likely benign\|uncertain significance	3	33097025	33097025	Human	2	name
127314849	CV1113907	single nucleotide variant	NM_000404.4(GLB1):c.993C>T (p.Tyr331=)	Mucopolysaccharidosis, MPS-IV-B [RCV001457823]	likely benign	3	33046195	33046195	Human	1	name
127327261	CV1113908	single nucleotide variant	NM_000404.4(GLB1):c.987C>T (p.Thr329=)	Mucopolysaccharidosis, MPS-IV-B [RCV001469019]	likely benign	3	33046201	33046201	Human	1	name
127302759	CV1113910	single nucleotide variant	NM_000404.4(GLB1):c.912C>T (p.Asn304=)	Mucopolysaccharidosis, MPS-IV-B [RCV001461735]	likely benign	3	33051885	33051885	Human	1	name
127322709	CV1113911	single nucleotide variant	NM_000404.4(GLB1):c.789C>G (p.Pro263=)	Mucopolysaccharidosis, MPS-IV-B [RCV001467703]	likely benign	3	33053494	33053494	Human	1	name
127301179	CV1113912	single nucleotide variant	NM_000404.4(GLB1):c.693G>T (p.Gly231=)	Mucopolysaccharidosis, MPS-IV-B [RCV001461314]	likely benign	3	33058129	33058129	Human	1	name
127328690	CV1113913	single nucleotide variant	NM_000404.4(GLB1):c.561T>C (p.Asn187=)	Mucopolysaccharidosis, MPS-IV-B [RCV001469708]	likely benign	3	33058261	33058261	Human	1	name
127332048	CV1113914	single nucleotide variant	NM_000404.4(GLB1):c.450C>T (p.Ser150=)	Mucopolysaccharidosis, MPS-IV-B [RCV001471961]	likely benign	3	33068237	33068237	Human	1	name
127322744	CV1113915	single nucleotide variant	NM_000404.4(GLB1):c.402A>T (p.Gly134=)	Mucopolysaccharidosis, MPS-IV-B [RCV001467713]	likely benign	3	33068285	33068285	Human	1	name
127291484	CV1113916	single nucleotide variant	NM_000404.4(GLB1):c.342G>A (p.Leu114=)	Mucopolysaccharidosis, MPS-IV-B [RCV001476096]	likely benign	3	33068874	33068874	Human	1	name
127306517	CV1134793	single nucleotide variant	NM_000404.4(GLB1):c.873C>T (p.Ser291=)	Mucopolysaccharidosis, MPS-IV-B [RCV001500262]	likely benign	3	33051924	33051924	Human	1	name
127294549	CV1134794	single nucleotide variant	NM_000404.4(GLB1):c.813T>C (p.Thr271=)	Mucopolysaccharidosis, MPS-IV-B [RCV001497008]	likely benign	3	33051984	33051984	Human	1	name
127323926	CV1134798	single nucleotide variant	NM_000404.4(GLB1):c.708C>T (p.Leu236=)	Mucopolysaccharidosis, MPS-IV-B [RCV001485352]	likely benign	3	33058114	33058114	Human	1	name
127315639	CV1134799	single nucleotide variant	NM_000404.4(GLB1):c.681C>T (p.Phe227=)	GLB1-related disorder [RCV004533905]\|Mucopolysaccharidosis, MPS-IV-B [RCV001502767]	likely benign	3	33058141	33058141	Human	2	name
151709029	CV1359476	single nucleotide variant	NM_000404.4(GLB1):c.40G>C (p.Val14Leu)	Mucopolysaccharidosis, MPS-IV-B [RCV001991878]\|not provided [RCV004793685]	uncertain significance	3	33097046	33097046	Human	1	name
152074476	CV1520944	single nucleotide variant	NM_000404.4(GLB1):c.315A>G (p.Glu105=)	Mucopolysaccharidosis, MPS-IV-B [RCV002075540]	likely benign	3	33068901	33068901	Human	1	name
152043212	CV1522360	single nucleotide variant	NM_000404.4(GLB1):c.837A>G (p.Gln279=)	Mucopolysaccharidosis, MPS-IV-B [RCV002088230]	likely benign	3	33051960	33051960	Human	1	name
152112037	CV1539176	single nucleotide variant	NM_000404.4(GLB1):c.624C>T (p.Arg208=)	Mucopolysaccharidosis, MPS-IV-B [RCV002080384]	likely benign	3	33058198	33058198	Human	1	name
152063289	CV1542316	single nucleotide variant	NM_000404.4(GLB1):c.366C>G (p.Pro122=)	Mucopolysaccharidosis, MPS-IV-B [RCV002208964]	likely benign	3	33068850	33068850	Human	1	name
152143632	CV1543012	single nucleotide variant	NM_000404.4(GLB1):c.312G>A (p.Val104=)	Mucopolysaccharidosis, MPS-IV-B [RCV002178386]\|not specified [RCV004587321]	likely benign	3	33068904	33068904	Human	1	name
152155265	CV1560937	single nucleotide variant	NM_000404.4(GLB1):c.360G>A (p.Leu120=)	Mucopolysaccharidosis, MPS-IV-B [RCV002102846]	likely benign	3	33068856	33068856	Human	1	name
152045630	CV1561280	single nucleotide variant	NM_000404.4(GLB1):c.963C>T (p.Asn321=)	Mucopolysaccharidosis, MPS-IV-B [RCV002108309]	likely benign	3	33046225	33046225	Human	1	name
152088291	CV1562900	single nucleotide variant	NM_000404.4(GLB1):c.876C>T (p.Ser292=)	Mucopolysaccharidosis, MPS-IV-B [RCV002113719]	likely benign	3	33051921	33051921	Human	1	name
152102329	CV1571597	single nucleotide variant	NM_000404.4(GLB1):c.843C>T (p.His281=)	Mucopolysaccharidosis, MPS-IV-B [RCV002173263]	likely benign	3	33051954	33051954	Human	1	name
152090244	CV1581763	single nucleotide variant	NM_000404.4(GLB1):c.411T>C (p.Ala137=)	Mucopolysaccharidosis, MPS-IV-B [RCV002077608]	likely benign	3	33068276	33068276	Human	1	name
152028568	CV1587028	single nucleotide variant	NM_000404.4(GLB1):c.903G>T (p.Ala301=)	Mucopolysaccharidosis, MPS-IV-B [RCV002085505]	likely benign	3	33051894	33051894	Human	1	name
152172220	CV1599034	single nucleotide variant	NM_000404.4(GLB1):c.426A>G (p.Lys142=)	Mucopolysaccharidosis, MPS-IV-B [RCV002143704]	likely benign	3	33068261	33068261	Human	1	name
152042216	CV1619581	single nucleotide variant	NM_000404.4(GLB1):c.945C>T (p.Ala315=)	Mucopolysaccharidosis, MPS-IV-B [RCV002188415]	likely benign	3	33051768	33051768	Human	1	name
152032105	CV1629319	single nucleotide variant	NM_000404.4(GLB1):c.636G>A (p.Gly212=)	Mucopolysaccharidosis, MPS-IV-B [RCV002106295]	likely benign	3	33058186	33058186	Human	1	name
152054475	CV1633057	single nucleotide variant	NM_000404.4(GLB1):c.789C>T (p.Pro263=)	Mucopolysaccharidosis, MPS-IV-B [RCV002127606]	likely benign	3	33053494	33053494	Human	1	name
152108006	CV1657420	single nucleotide variant	NM_000404.4(GLB1):c.597C>T (p.Tyr199=)	Mucopolysaccharidosis, MPS-IV-B [RCV002215080]	likely benign	3	33058225	33058225	Human	1	name
156030673	CV1910731	single nucleotide variant	NM_000404.4(GLB1):c.67G>A (p.Gly23Ser)	Mucopolysaccharidosis, MPS-IV-B [RCV002619839]	uncertain significance	3	33097019	33097019	Human	1	name
10048105	CV192235	deletion	NM_000404.4(GLB1):c.169del (p.Tyr57fs)	not provided [RCV000175596]	pathogenic	3	33072620	33072620	Human		name
156415974	CV1966370	single nucleotide variant	NM_000404.4(GLB1):c.666A>G (p.Gly222=)	Mucopolysaccharidosis, MPS-IV-B [RCV002589459]	likely benign	3	33058156	33058156	Human	1	name
156348042	CV1970660	single nucleotide variant	NM_000404.4(GLB1):c.990C>T (p.Ser330=)	Mucopolysaccharidosis, MPS-IV-B [RCV002601627]	likely benign	3	33046198	33046198	Human	1	name
156241396	CV1973224	single nucleotide variant	NM_000404.4(GLB1):c.699G>T (p.Leu233=)	Mucopolysaccharidosis, MPS-IV-B [RCV002597158]	likely benign	3	33058123	33058123	Human	1	name
156381898	CV1978892	single nucleotide variant	NM_000404.4(GLB1):c.429G>A (p.Glu143=)	Mucopolysaccharidosis, MPS-IV-B [RCV002604025]	likely benign	3	33068258	33068258	Human	1	name
156256566	CV2003910	single nucleotide variant	NM_000404.4(GLB1):c.693G>A (p.Gly231=)	Mucopolysaccharidosis, MPS-IV-B [RCV002627625]	likely benign	3	33058129	33058129	Human	1	name
156198988	CV2024466	single nucleotide variant	NM_000404.4(GLB1):c.462C>T (p.Tyr154=)	Mucopolysaccharidosis, MPS-IV-B [RCV002711335]	likely benign	3	33065553	33065553	Human	1	name
155966953	CV2034343	single nucleotide variant	NM_000404.4(GLB1):c.678A>T (p.Thr226=)	Mucopolysaccharidosis, MPS-IV-B [RCV002731438]	likely benign	3	33058144	33058144	Human	1	name
156341975	CV2055448	single nucleotide variant	NM_000404.4(GLB1):c.729A>G (p.Gly243=)	Mucopolysaccharidosis, MPS-IV-B [RCV002811249]	likely benign	3	33058093	33058093	Human	1	name
156308590	CV2067105	single nucleotide variant	NM_000404.4(GLB1):c.558A>G (p.Glu186=)	Mucopolysaccharidosis, MPS-IV-B [RCV002833986]	likely benign	3	33058264	33058264	Human	1	name
155982812	CV2070202	single nucleotide variant	NM_000404.4(GLB1):c.639T>C (p.Asp213=)	Mucopolysaccharidosis, MPS-IV-B [RCV002842604]	likely benign	3	33058183	33058183	Human	1	name
155979353	CV2081893	single nucleotide variant	NM_000404.4(GLB1):c.879C>G (p.Leu293=)	Mucopolysaccharidosis, MPS-IV-B [RCV002863692]	likely benign	3	33051918	33051918	Human	1	name
156318404	CV2090476	single nucleotide variant	NM_000404.4(GLB1):c.492C>G (p.Val164=)	Mucopolysaccharidosis, MPS-IV-B [RCV002899133]	likely benign	3	33065523	33065523	Human	1	name
156031621	CV2093550	single nucleotide variant	NM_000404.4(GLB1):c.510G>A (p.Lys170=)	Mucopolysaccharidosis, MPS-IV-B [RCV002885424]	likely benign	3	33065505	33065505	Human	1	name
156052136	CV2093553	single nucleotide variant	NM_000404.4(GLB1):c.621T>C (p.Phe207=)	Mucopolysaccharidosis, MPS-IV-B [RCV002867818]	likely benign	3	33058201	33058201	Human	1	name
156043956	CV2094261	single nucleotide variant	NM_000404.4(GLB1):c.62C>T (p.Thr21Met)	Inborn genetic diseases [RCV004973678]\|Mucopolysaccharidosis, MPS-IV-B [RCV002885921]	uncertain significance	3	33097024	33097024	Human	2	name
156331627	CV2094847	single nucleotide variant	NM_000404.4(GLB1):c.399A>G (p.Gly133=)	Mucopolysaccharidosis, MPS-IV-B [RCV002899958]	uncertain significance	3	33068288	33068288	Human	1	name
155990981	CV2095469	single nucleotide variant	NM_000404.4(GLB1):c.804A>G (p.Glu268=)	Mucopolysaccharidosis, MPS-IV-B [RCV002908158]	likely benign	3	33051993	33051993	Human	1	name
156351530	CV2122414	single nucleotide variant	NM_000404.4(GLB1):c.87G>T (p.Gln29His)	Mucopolysaccharidosis, MPS-IV-B [RCV002966334]	uncertain significance	3	33072702	33072702	Human	1	name
155954563	CV2143872	single nucleotide variant	NM_000404.4(GLB1):c.68G>A (p.Gly23Asp)	Mucopolysaccharidosis, MPS-IV-B [RCV002994820]\|not provided [RCV005425019]	uncertain significance	3	33097018	33097018	Human	1	name
155992197	CV2147653	single nucleotide variant	NM_000404.4(GLB1):c.768G>A (p.Arg256=)	Mucopolysaccharidosis, MPS-IV-B [RCV003016880]	likely benign	3	33053515	33053515	Human	1	name
156027704	CV2156173	single nucleotide variant	NM_000404.4(GLB1):c.363G>A (p.Arg121=)	Mucopolysaccharidosis, MPS-IV-B [RCV003018537]	likely benign	3	33068853	33068853	Human	1	name
156355161	CV2188703	single nucleotide variant	NM_000404.4(GLB1):c.627C>T (p.His209=)	Mucopolysaccharidosis, MPS-IV-B [RCV003048632]	likely benign	3	33058195	33058195	Human	1	name
11551446	CV251094	single nucleotide variant	NM_000404.4(GLB1):c.858C>T (p.Thr286=)	GM1 gangliosidosis type 2 [RCV000667352]\|Mucopolysaccharidosis, MPS-IV-B [RCV000926956]\|not provided [RCV004567802]\|not specified [RCV000253060]	likely benign	3	33051939	33051939	Human	2	name , alternate_id
11544549	CV251095	single nucleotide variant	NM_000404.4(GLB1):c.756C>T (p.Phe252=)	GM1 gangliosidosis [RCV001145883]\|Mucopolysaccharidosis, MPS-IV-B [RCV000873684]\|Mucopolysaccharidosis, MPS-IV-B [RCV001145884]\|not provided [RCV001540245]\|not specified [RCV000243941]	benign\|likely benign	3	33053527	33053527	Human	2	name
404988174	CV3083991	single nucleotide variant	NM_000404.4(GLB1):c.936C>G (p.Thr312=)	Mucopolysaccharidosis, MPS-IV-B [RCV003782183]	likely benign	3	33051777	33051777	Human	1	name
402513319	CV3089431	deletion	NM_000404.4(GLB1):c.1143+20_1143+21del	Mucopolysaccharidosis, MPS-IV-B [RCV003780464]	likely benign	3	33024230	33024231	Human	1	name
402491683	CV3091099	single nucleotide variant	NM_000404.4(GLB1):c.384A>G (p.Ala128=)	Mucopolysaccharidosis, MPS-IV-B [RCV003787604]	likely benign	3	33068832	33068832	Human	1	name
404992613	CV3091425	single nucleotide variant	NM_000404.4(GLB1):c.349C>T (p.Leu117=)	Mucopolysaccharidosis, MPS-IV-B [RCV003792900]	likely benign	3	33068867	33068867	Human	1	name
402497080	CV3092558	single nucleotide variant	NM_000404.4(GLB1):c.435T>C (p.Ile145=)	Mucopolysaccharidosis, MPS-IV-B [RCV003788178]	likely benign	3	33068252	33068252	Human	1	name
402497791	CV3092787	single nucleotide variant	NM_000404.4(GLB1):c.576C>T (p.Tyr192=)	Mucopolysaccharidosis, MPS-IV-B [RCV003788251]	likely benign	3	33058246	33058246	Human	1	name
402486057	CV3093854	single nucleotide variant	NM_000404.4(GLB1):c.606C>T (p.Phe202=)	Mucopolysaccharidosis, MPS-IV-B [RCV003787055]	likely benign	3	33058216	33058216	Human	1	name
405054104	CV3094956	single nucleotide variant	NM_000404.4(GLB1):c.327G>C (p.Arg109=)	Mucopolysaccharidosis, MPS-IV-B [RCV003798270]	likely benign	3	33068889	33068889	Human	1	name
405005277	CV3096008	single nucleotide variant	NM_000404.4(GLB1):c.981G>A (p.Gln327=)	Mucopolysaccharidosis, MPS-IV-B [RCV003794158]	likely benign	3	33046207	33046207	Human	1	name
405010335	CV3096555	single nucleotide variant	NM_000404.4(GLB1):c.936C>A (p.Thr312=)	Mucopolysaccharidosis, MPS-IV-B [RCV003794544]	likely benign	3	33051777	33051777	Human	1	name
404999353	CV3099151	single nucleotide variant	NM_000404.4(GLB1):c.633G>A (p.Leu211=)	Mucopolysaccharidosis, MPS-IV-B [RCV003793572]	likely benign	3	33058189	33058189	Human	1	name
405016904	CV3100699	single nucleotide variant	NM_000404.4(GLB1):c.747A>T (p.Thr249=)	Mucopolysaccharidosis, MPS-IV-B [RCV003805447]	likely benign	3	33053536	33053536	Human	1	name
405021043	CV3101263	single nucleotide variant	NM_000404.4(GLB1):c.321T>C (p.Phe107=)	Mucopolysaccharidosis, MPS-IV-B [RCV003805842]	likely benign	3	33068895	33068895	Human	1	name
405021236	CV3101282	single nucleotide variant	NM_000404.4(GLB1):c.516C>T (p.Leu172=)	Mucopolysaccharidosis, MPS-IV-B [RCV003805861]	likely benign	3	33065499	33065499	Human	1	name
405021247	CV3101283	single nucleotide variant	NM_000404.4(GLB1):c.447C>T (p.Ser149=)	Mucopolysaccharidosis, MPS-IV-B [RCV003805862]	likely benign	3	33068240	33068240	Human	1	name
405180779	CV3101771	single nucleotide variant	NM_000404.4(GLB1):c.696C>T (p.Ala232=)	Mucopolysaccharidosis, MPS-IV-B [RCV003803985]	likely benign	3	33058126	33058126	Human	1	name
405003382	CV3102164	single nucleotide variant	NM_000404.4(GLB1):c.378C>T (p.Ile126=)	Mucopolysaccharidosis, MPS-IV-B [RCV003804210]	likely benign	3	33068838	33068838	Human	1	name
405168947	CV3104162	single nucleotide variant	NM_000404.4(GLB1):c.780C>T (p.Pro260=)	Mucopolysaccharidosis, MPS-IV-B [RCV003802839]	likely benign	3	33053503	33053503	Human	1	name
405172256	CV3104635	single nucleotide variant	NM_000404.4(GLB1):c.771G>A (p.Lys257=)	Mucopolysaccharidosis, MPS-IV-B [RCV003803133]	likely benign	3	33053512	33053512	Human	1	name
405174329	CV3104871	single nucleotide variant	NM_000404.4(GLB1):c.786A>C (p.Gly262=)	Mucopolysaccharidosis, MPS-IV-B [RCV003803369]	likely benign	3	33053497	33053497	Human	1	name
405079889	CV3107278	single nucleotide variant	NM_000404.4(GLB1):c.882T>C (p.Tyr294=)	Mucopolysaccharidosis, MPS-IV-B [RCV003800148]	likely benign	3	33051915	33051915	Human	1	name
405081189	CV3107379	single nucleotide variant	NM_000404.4(GLB1):c.750T>C (p.Asp250=)	Mucopolysaccharidosis, MPS-IV-B [RCV003800249]	likely benign	3	33053533	33053533	Human	1	name
405058350	CV3108237	single nucleotide variant	NM_000404.4(GLB1):c.318T>C (p.Tyr106=)	Mucopolysaccharidosis, MPS-IV-B [RCV003808815]	likely benign	3	33068898	33068898	Human	1	name
405108983	CV3112448	single nucleotide variant	NM_000404.4(GLB1):c.579T>C (p.Phe193=)	Mucopolysaccharidosis, MPS-IV-B [RCV003813291]	likely benign	3	33058243	33058243	Human	1	name
405104924	CV3113141	single nucleotide variant	NM_000404.4(GLB1):c.631C>T (p.Leu211=)	Mucopolysaccharidosis, MPS-IV-B [RCV003812432]	likely benign	3	33058191	33058191	Human	1	name
405106244	CV3113390	single nucleotide variant	NM_000404.4(GLB1):c.504G>A (p.Lys168=)	Mucopolysaccharidosis, MPS-IV-B [RCV003812682]	likely benign	3	33065511	33065511	Human	1	name
405691419	CV3227535	microsatellite	NM_000404.4(GLB1):c.76-4399_76-4397del	Infantile GM1 gangliosidosis [RCV003991880]	uncertain significance	3	33077110	33077112	Human		name , alternate_id
597857860	CV3864722	single nucleotide variant	NM_000404.4(GLB1):c.447C>G (p.Ser149=)	Mucopolysaccharidosis, MPS-IV-B [RCV005213778]	likely benign	3	33068240	33068240	Human	1	name
597850389	CV3873267	single nucleotide variant	NM_000404.4(GLB1):c.375C>T (p.Tyr125=)	Mucopolysaccharidosis, MPS-IV-B [RCV005212709]	likely benign	3	33068841	33068841	Human	1	name
597843327	CV3878447	single nucleotide variant	NM_000404.4(GLB1):c.825T>C (p.Asp275=)	Mucopolysaccharidosis, MPS-IV-B [RCV005226937]	likely benign	3	33051972	33051972	Human	1	name
597928259	CV3878880	single nucleotide variant	NM_000404.4(GLB1):c.77A>G (p.Asn26Ser)	Mucopolysaccharidosis, MPS-IV-B [RCV005224539]	uncertain significance	3	33072712	33072712	Human	1	name
12906004	CV413623	single nucleotide variant	NM_000404.4(GLB1):c.31C>G (p.Leu11Val)	GLB1-related disorder [RCV004541535]\|Infantile GM1 gangliosidosis [RCV001335294]\|Mucopolysaccharidosis, MPS-IV-B [RCV001089162]\|not provided [RCV000488298]\|not specified [RCV005407147]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	33097055	33097055	Human	3	name , alternate_id
13786056	CV543195	single nucleotide variant	NM_000404.4(GLB1):c.501C>T (p.Pro167=)	GM1 gangliosidosis type 2 [RCV000672524]	uncertain significance	3	33065514	33065514	Human	1	name , alternate_id
13789968	CV543208	single nucleotide variant	NM_000404.4(GLB1):c.93G>A (p.Met31Ile)	GM1 gangliosidosis type 2 [RCV000666272]	uncertain significance	3	33072696	33072696	Human	1	name , alternate_id
14710083	CV631178	deletion	NM_000404.4(GLB1):c.163del (p.Ile55fs)	Mucopolysaccharidosis, MPS-IV-B [RCV000813662]	pathogenic	3	33072626	33072626	Human	1	name
15122905	CV691377	single nucleotide variant	NM_000404.4(GLB1):c.327G>A (p.Arg109=)	Mucopolysaccharidosis, MPS-IV-B [RCV000874495]	likely benign	3	33068889	33068889	Human	1	name
15170592	CV708788	single nucleotide variant	NM_000404.4(GLB1):c.534G>A (p.Gly178=)	GM1 gangliosidosis [RCV001148906]\|Inborn genetic diseases [RCV004973213]\|Mucopolysaccharidosis, MPS-IV-B [RCV000972042]\|Mucopolysaccharidosis, MPS-IV-B [RCV001148907]	likely benign\|uncertain significance	3	33065481	33065481	Human	3	name
15149414	CV734029	single nucleotide variant	NM_000404.4(GLB1):c.693G>C (p.Gly231=)	Mucopolysaccharidosis, MPS-IV-B [RCV000900929]	likely benign	3	33058129	33058129	Human	1	name
15101853	CV748207	single nucleotide variant	NM_000404.4(GLB1):c.909G>A (p.Val303=)	Mucopolysaccharidosis, MPS-IV-B [RCV002065866]	likely benign	3	33051888	33051888	Human	1	name
15147568	CV763819	single nucleotide variant	NM_000404.4(GLB1):c.849A>C (p.Thr283=)	Mucopolysaccharidosis, MPS-IV-B [RCV001488482]	likely benign	3	33051948	33051948	Human	1	name
15177332	CV763820	single nucleotide variant	NM_000404.4(GLB1):c.780C>G (p.Pro260=)	Mucopolysaccharidosis, MPS-IV-B [RCV000929129]\|not provided [RCV003432927]	likely benign	3	33053503	33053503	Human	1	name
15192507	CV763821	single nucleotide variant	NM_000404.4(GLB1):c.777G>A (p.Glu259=)	Mucopolysaccharidosis, MPS-IV-B [RCV002066119]	likely benign	3	33053506	33053506	Human	1	name
8624263	CV79372	single nucleotide variant	NM_000404.4(GLB1):c.456A>T (p.Pro152=)	GM1 gangliosidosis type 2 [RCV000059353]	not provided	3	33068231	33068231	Human		name
28871508	CV888671	single nucleotide variant	NM_000404.4(GLB1):c.711C>T (p.Tyr237=)	GM1 gangliosidosis [RCV001145885]\|Mucopolysaccharidosis, MPS-IV-B [RCV001145886]\|Mucopolysaccharidosis, MPS-IV-B [RCV001406952]	likely benign\|uncertain significance	3	33058111	33058111	Human	2	name
8639828	CV98811	single nucleotide variant	NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)	GM1 gangliosidosis [RCV000340960]\|GM1 gangliosidosis type 2 [RCV001701735]\|GM1 gangliosidosis type 3 [RCV001701656]\|Infantile GM1 gangliosidosis [RCV001527573]\|Mucopolysaccharidosis, MPS-IV-B [RCV000402607]\|Mucopolysaccharidosis, MPS-IV-B [RCV001511462]\|not provided [RCV000590040]\|not specified [RCV ... (more) 000078711]	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	3	33097057	33097057	Human	5	name , alternate_id
126725103	CV1016237	single nucleotide variant	NM_000404.4(GLB1):c.235G>A (p.Ala79Thr)	GM1 gangliosidosis type 3 [RCV001331202]\|Mucopolysaccharidosis, MPS-IV-B [RCV002546453]\|not provided [RCV004692544]	uncertain significance	3	33072554	33072554	Human	2	name
126909283	CV1042151	single nucleotide variant	NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys)	GM1 gangliosidosis type 2 [RCV005023114]\|Mucopolysaccharidosis, MPS-IV-B [RCV001373808]\|Mucopolysaccharidosis, MPS-IV-B [RCV005236841]\|not provided [RCV004728689]	pathogenic\|likely pathogenic\|uncertain significance	3	33072682	33072682	Human	2	name , alternate_id
127257042	CV1055333	single nucleotide variant	NM_000404.4(GLB1):c.202C>G (p.Arg68Gly)	Mucopolysaccharidosis, MPS-IV-B [RCV001379676]	likely pathogenic	3	33072587	33072587	Human	1	name
127264745	CV1059734	deletion	NM_000404.4(GLB1):c.473del (p.Val158fs)	Mucopolysaccharidosis, MPS-IV-B [RCV001381302]	pathogenic	3	33065542	33065542	Human	1	name
127237814	CV1070678	single nucleotide variant	NM_000404.4(GLB1):c.2031A>G (p.Val677=)	Mucopolysaccharidosis, MPS-IV-B [RCV001392377]	likely benign	3	32997048	32997048	Human	1	name
127249465	CV1070679	single nucleotide variant	NM_000404.4(GLB1):c.1983C>T (p.Leu661=)	Mucopolysaccharidosis, MPS-IV-B [RCV001417326]\|not provided [RCV002264306]	likely benign	3	32997096	32997096	Human	1	name
127282207	CV1070680	single nucleotide variant	NM_000404.4(GLB1):c.1980A>G (p.Arg660=)	Mucopolysaccharidosis, MPS-IV-B [RCV001410995]	likely benign	3	32997099	32997099	Human	1	name
127252949	CV1070681	single nucleotide variant	NM_000404.4(GLB1):c.1833G>C (p.Ser611=)	Mucopolysaccharidosis, MPS-IV-B [RCV001400441]	likely benign	3	32997246	32997246	Human	1	name
127233577	CV1070682	single nucleotide variant	NM_000404.4(GLB1):c.1803G>A (p.Leu601=)	Mucopolysaccharidosis, MPS-IV-B [RCV001413951]	likely benign	3	32997276	32997276	Human	1	name
127243238	CV1070687	single nucleotide variant	NM_000404.4(GLB1):c.1536T>C (p.Phe512=)	Mucopolysaccharidosis, MPS-IV-B [RCV001416109]\|not provided [RCV002264305]	likely benign	3	33014254	33014254	Human	1	name
127245473	CV1070688	single nucleotide variant	NM_000404.4(GLB1):c.1495C>T (p.Leu499=)	Mucopolysaccharidosis, MPS-IV-B [RCV001398726]	likely benign	3	33014295	33014295	Human	1	name
127244269	CV1070690	single nucleotide variant	NM_000404.4(GLB1):c.1368G>A (p.Glu456=)	Mucopolysaccharidosis, MPS-IV-B [RCV001393686]	likely benign	3	33016820	33016820	Human	1	name
127278220	CV1092370	single nucleotide variant	NM_000404.4(GLB1):c.1914C>T (p.Phe638=)	Mucopolysaccharidosis, MPS-IV-B [RCV001444910]	likely benign	3	32997165	32997165	Human	1	name
127253425	CV1092371	single nucleotide variant	NM_000404.4(GLB1):c.1911G>A (p.Thr637=)	Mucopolysaccharidosis, MPS-IV-B [RCV001426040]	likely benign	3	32997168	32997168	Human	1	name
127232339	CV1092372	single nucleotide variant	NM_000404.4(GLB1):c.1815G>A (p.Gln605=)	Mucopolysaccharidosis, MPS-IV-B [RCV001421274]	likely benign	3	32997264	32997264	Human	1	name
127276230	CV1092373	single nucleotide variant	NM_000404.4(GLB1):c.1650C>G (p.Ala550=)	Mucopolysaccharidosis, MPS-IV-B [RCV001443720]	likely benign	3	33014140	33014140	Human	1	name
127249069	CV1092374	single nucleotide variant	NM_000404.4(GLB1):c.1593C>T (p.Asp531=)	Mucopolysaccharidosis, MPS-IV-B [RCV001425044]	likely benign	3	33014197	33014197	Human	1	name
127245832	CV1092375	single nucleotide variant	NM_000404.4(GLB1):c.1512T>C (p.Asn504=)	Mucopolysaccharidosis, MPS-IV-B [RCV001435282]	likely benign	3	33014278	33014278	Human	1	name
127284262	CV1092377	single nucleotide variant	NM_000404.4(GLB1):c.1101A>G (p.Pro367=)	Mucopolysaccharidosis, MPS-IV-B [RCV001449178]	likely benign	3	33024293	33024293	Human	1	name
127271614	CV1092378	single nucleotide variant	NM_000404.4(GLB1):c.1020T>C (p.Ala340=)	Mucopolysaccharidosis, MPS-IV-B [RCV001431029]	likely benign	3	33046168	33046168	Human	1	name
127331100	CV1113893	single nucleotide variant	NM_000404.4(GLB1):c.2028T>C (p.His676=)	Mucopolysaccharidosis, MPS-IV-B [RCV001471327]	likely benign	3	32997051	32997051	Human	1	name
127294874	CV1113894	single nucleotide variant	NM_000404.4(GLB1):c.2007C>T (p.Asn669=)	Mucopolysaccharidosis, MPS-IV-B [RCV001459577]	likely benign	3	32997072	32997072	Human	1	name
127331622	CV1113895	single nucleotide variant	NM_000404.4(GLB1):c.1989C>T (p.Pro663=)	Mucopolysaccharidosis, MPS-IV-B [RCV001471696]	likely benign	3	32997090	32997090	Human	1	name
127297344	CV1113896	single nucleotide variant	NM_000404.4(GLB1):c.1896A>G (p.Glu632=)	Mucopolysaccharidosis, MPS-IV-B [RCV001453034]	likely benign	3	32997183	32997183	Human	1	name
127299431	CV1113898	single nucleotide variant	NM_000404.4(GLB1):c.1521G>A (p.Thr507=)	Mucopolysaccharidosis, MPS-IV-B [RCV001460807]\|not provided [RCV004711651]	likely benign	3	33014269	33014269	Human	1	name
127301740	CV1113901	single nucleotide variant	NM_000404.4(GLB1):c.1449G>T (p.Val483=)	Mucopolysaccharidosis, MPS-IV-B [RCV001461469]	likely benign	3	33016739	33016739	Human	1	name
127330767	CV1113903	single nucleotide variant	NM_000404.4(GLB1):c.1257G>A (p.Arg419=)	Mucopolysaccharidosis, MPS-IV-B [RCV001471120]	likely benign	3	33018538	33018538	Human	1	name
127336216	CV1113904	single nucleotide variant	NM_000404.4(GLB1):c.1215A>C (p.Thr405=)	Mucopolysaccharidosis, MPS-IV-B [RCV001474827]	likely benign	3	33021584	33021584	Human	1	name
127326967	CV1113905	single nucleotide variant	NM_000404.4(GLB1):c.1074A>G (p.Glu358=)	Mucopolysaccharidosis, MPS-IV-B [RCV001468943]\|not provided [RCV003438816]	likely benign	3	33024320	33024320	Human	1	name
127335098	CV1113906	single nucleotide variant	NM_000404.4(GLB1):c.1008A>G (p.Pro336=)	Mucopolysaccharidosis, MPS-IV-B [RCV001474014]	likely benign	3	33046180	33046180	Human	1	name
127327696	CV1134781	single nucleotide variant	NM_000404.4(GLB1):c.1995C>T (p.Pro665=)	Mucopolysaccharidosis, MPS-IV-B [RCV001506768]	likely benign	3	32997084	32997084	Human	1	name
127307582	CV1134782	single nucleotide variant	NM_000404.4(GLB1):c.1950C>T (p.Tyr650=)	Mucopolysaccharidosis, MPS-IV-B [RCV001500527]	likely benign	3	32997129	32997129	Human	1	name
127298833	CV1134783	single nucleotide variant	NM_000404.4(GLB1):c.1851C>T (p.Thr617=)	Mucopolysaccharidosis, MPS-IV-B [RCV001498165]	likely benign	3	32997228	32997228	Human	1	name
127324436	CV1134784	single nucleotide variant	NM_000404.4(GLB1):c.1812C>G (p.Pro604=)	Mucopolysaccharidosis, MPS-IV-B [RCV001485480]	likely benign	3	32997267	32997267	Human	1	name
127315134	CV1134785	single nucleotide variant	NM_000404.4(GLB1):c.1620C>T (p.Ala540=)	Mucopolysaccharidosis, MPS-IV-B [RCV001482452]	likely benign	3	33014170	33014170	Human	1	name
127286393	CV1134786	single nucleotide variant	NM_000404.4(GLB1):c.1605T>C (p.His535=)	Mucopolysaccharidosis, MPS-IV-B [RCV001494148]	likely benign	3	33014185	33014185	Human	1	name
127313977	CV1134787	single nucleotide variant	NM_000404.4(GLB1):c.1515C>T (p.Ile505=)	Mucopolysaccharidosis, MPS-IV-B [RCV001482116]	likely benign	3	33014275	33014275	Human	1	name
127290487	CV1134788	single nucleotide variant	NM_000404.4(GLB1):c.1470C>T (p.Asn490=)	Mucopolysaccharidosis, MPS-IV-B [RCV001495989]	likely benign	3	33016718	33016718	Human	1	name
127312102	CV1134789	single nucleotide variant	NM_000404.4(GLB1):c.1293T>C (p.Pro431=)	Mucopolysaccharidosis, MPS-IV-B [RCV001481607]	likely benign	3	33018502	33018502	Human	1	name
127318922	CV1134790	single nucleotide variant	NM_000404.4(GLB1):c.1263A>G (p.Thr421=)	Mucopolysaccharidosis, MPS-IV-B [RCV001483657]	likely benign	3	33018532	33018532	Human	1	name
150555687	CV1304842	single nucleotide variant	NM_000404.4(GLB1):c.271C>A (p.Pro91Thr)	not provided [RCV001773090]	uncertain significance	3	33068945	33068945	Human		name
151351353	CV1323496	single nucleotide variant	NM_000404.4(GLB1):c.266A>T (p.His89Leu)	Infantile GM1 gangliosidosis [RCV001806352]	pathogenic	3	33068950	33068950	Human	1	name , alternate_id
151799085	CV1344433	single nucleotide variant	NM_000404.4(GLB1):c.1647G>A (p.Pro549=)	Mucopolysaccharidosis, MPS-IV-B [RCV001919098]	likely benign\|uncertain significance	3	33014143	33014143	Human	1	name
151776259	CV1374570	single nucleotide variant	NM_000404.4(GLB1):c.168C>G (p.His56Gln)	Mucopolysaccharidosis, MPS-IV-B [RCV001875703]\|not specified [RCV002282633]	uncertain significance	3	33072621	33072621	Human	1	name
151715286	CV1376229	single nucleotide variant	NM_000404.4(GLB1):c.176G>T (p.Arg59Leu)	Mucopolysaccharidosis, MPS-IV-B [RCV002019499]	likely pathogenic	3	33072613	33072613	Human	1	name
151786888	CV1417827	single nucleotide variant	NM_000404.4(GLB1):c.295T>A (p.Ser99Thr)	Mucopolysaccharidosis, MPS-IV-B [RCV001894777]	uncertain significance	3	33068921	33068921	Human	1	name
151709766	CV1428637	single nucleotide variant	NM_000404.4(GLB1):c.1146A>G (p.Leu382=)	Mucopolysaccharidosis, MPS-IV-B [RCV001994786]	likely benign	3	33021653	33021653	Human	1	name
151711501	CV1442007	single nucleotide variant	NM_000404.4(GLB1):c.203G>T (p.Arg68Leu)	Mucopolysaccharidosis, MPS-IV-B [RCV002002980]\|not specified [RCV003323967]	likely pathogenic\|uncertain significance	3	33072586	33072586	Human	1	name
151809428	CV1454280	single nucleotide variant	NM_000404.4(GLB1):c.173C>T (p.Ser58Phe)	Mucopolysaccharidosis, MPS-IV-B [RCV001938792]	uncertain significance	3	33072616	33072616	Human	1	name
151718289	CV1485489	single nucleotide variant	NM_000404.4(GLB1):c.161G>A (p.Ser54Asn)	GM1 gangliosidosis [RCV005238174]\|Mucopolysaccharidosis, MPS-IV-B [RCV002029304]	likely pathogenic	3	33072628	33072628	Human	2	name
151770595	CV1512805	single nucleotide variant	NM_000404.4(GLB1):c.257G>A (p.Trp86Ter)	Mucopolysaccharidosis, MPS-IV-B [RCV001866791]	pathogenic	3	33068959	33068959	Human	1	name
152082351	CV1526174	single nucleotide variant	NM_000404.4(GLB1):c.1764T>C (p.Leu588=)	Mucopolysaccharidosis, MPS-IV-B [RCV002170702]	likely benign	3	32997315	32997315	Human	1	name
152108589	CV1529995	single nucleotide variant	NM_000404.4(GLB1):c.1017G>A (p.Glu339=)	Mucopolysaccharidosis, MPS-IV-B [RCV002196476]	likely benign	3	33046171	33046171	Human	1	name
152136762	CV1537843	single nucleotide variant	NM_000404.4(GLB1):c.1794G>A (p.Gln598=)	Mucopolysaccharidosis, MPS-IV-B [RCV002177523]	likely benign	3	32997285	32997285	Human	1	name
152117397	CV1538867	single nucleotide variant	NM_000404.4(GLB1):c.1935C>A (p.Gly645=)	Mucopolysaccharidosis, MPS-IV-B [RCV002175115]	likely benign	3	32997144	32997144	Human	1	name
152045552	CV1556141	single nucleotide variant	NM_000404.4(GLB1):c.1062C>T (p.Ile354=)	Mucopolysaccharidosis, MPS-IV-B [RCV002206883]	likely benign	3	33046126	33046126	Human	1	name
152165873	CV1557112	single nucleotide variant	NM_000404.4(GLB1):c.1566C>T (p.Ser522=)	Mucopolysaccharidosis, MPS-IV-B [RCV002181825]	likely benign	3	33014224	33014224	Human	1	name
152046189	CV1561391	single nucleotide variant	NM_000404.4(GLB1):c.1320C>T (p.His440=)	Mucopolysaccharidosis, MPS-IV-B [RCV002108366]	likely benign	3	33018475	33018475	Human	1	name
152051448	CV1569278	single nucleotide variant	NM_000404.4(GLB1):c.1704C>T (p.Asp568=)	Mucopolysaccharidosis, MPS-IV-B [RCV002207572]	likely benign	3	33014086	33014086	Human	1	name
152145166	CV1582626	single nucleotide variant	NM_000404.4(GLB1):c.1638C>T (p.Tyr546=)	Mucopolysaccharidosis, MPS-IV-B [RCV002201127]	likely benign	3	33014152	33014152	Human	1	name
152149149	CV1593104	single nucleotide variant	NM_000404.4(GLB1):c.1377T>C (p.Asn459=)	Mucopolysaccharidosis, MPS-IV-B [RCV002101953]	likely benign	3	33016811	33016811	Human	1	name
152093478	CV1593472	single nucleotide variant	NM_000404.4(GLB1):c.1176G>A (p.Leu392=)	Mucopolysaccharidosis, MPS-IV-B [RCV002094515]	likely benign	3	33021623	33021623	Human	1	name
8595215	CV15962	single nucleotide variant	NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)	GM1 gangliosidosis type 2 [RCV000672371]\|Infantile GM1 gangliosidosis [RCV000000971]\|Mucopolysaccharidosis, MPS-IV-B [RCV000707313]\|Mucopolysaccharidosis, MPS-IV-B [RCV001778644]\|not provided [RCV000175599]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	3	33072644	33072644	Human	3	name , alternate_id
8595218	CV15965	single nucleotide variant	NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)	GM1 gangliosidosis type 2 [RCV000671053]\|GM1 gangliosidosis type 3 [RCV000000974]\|Infantile GM1 gangliosidosis [RCV001582457]\|Mucopolysaccharidosis, MPS-IV-B [RCV001851520]\|Mucopolysaccharidosis, MPS-IV-B [RCV004799723]	pathogenic\|not provided	3	33072637	33072637	Human	4	name , alternate_id
8595225	CV15974	single nucleotide variant	NM_000404.4(GLB1):c.245C>T (p.Thr82Met)	GM1 gangliosidosis type 2 [RCV000669063]\|GM1 gangliosidosis type 3 [RCV000000984]\|Inborn genetic diseases [RCV000624609]\|Infantile GM1 gangliosidosis [RCV004546408]\|Mucopolysaccharidosis, MPS-IV-B [RCV001068811]\|not provided [RCV001559063]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	3	33072544	33072544	Human	5	name , alternate_id
8595226	CV15976	single nucleotide variant	NM_000404.4(GLB1):c.247T>C (p.Tyr83His)	Mucopolysaccharidosis, MPS-IV-B [RCV000000986]	pathogenic	3	33068969	33068969	Human	1	name
8595232	CV15983	single nucleotide variant	NM_000404.4(GLB1):c.202C>T (p.Arg68Trp)	GM1 gangliosidosis type 2 [RCV000000993]\|GM1 gangliosidosis type 2 [RCV005031376]\|Infantile GM1 gangliosidosis [RCV000760159]\|Mucopolysaccharidosis, MPS-IV-B [RCV001235447]\|not provided [RCV004589492]	pathogenic\|likely pathogenic	3	33072587	33072587	Human	3	name , alternate_id
8595233	CV15984	single nucleotide variant	NM_000404.4(GLB1):c.176G>A (p.Arg59His)	GLB1-related disorder [RCV004545719]\|GM1 gangliosidosis [RCV000778693]\|GM1 gangliosidosis type 2 [RCV000059350]\|GM1 gangliosidosis type 2 [RCV000850557]\|GM1 gangliosidosis type 3 [RCV000984179]\|GM1-gangliosidosis, type I, with cardiac involvement [RCV000000994]\| ... (more) Inborn genetic diseases [RCV004018531]\|Infantile GM1 gangliosidosis [RCV000000995]\|Mucopolysaccharidosis, MPS-IV-B [RCV000175600]\|Mucopolysaccharidosis, MPS-IV-B [RCV000811276]\|not provided [RCV000078708]	pathogenic\|likely pathogenic\|not provided	3	33072613	33072613	Human	6	name , alternate_id
152114699	CV1612567	single nucleotide variant	NM_000404.4(GLB1):c.1752T>C (p.Asn584=)	Mucopolysaccharidosis, MPS-IV-B [RCV002174776]	likely benign	3	32997327	32997327	Human	1	name
152042424	CV1618048	single nucleotide variant	NM_000404.4(GLB1):c.1251G>A (p.Leu417=)	Mucopolysaccharidosis, MPS-IV-B [RCV002206522]	likely benign	3	33018544	33018544	Human	1	name
152043125	CV1618159	single nucleotide variant	NM_000404.4(GLB1):c.1698C>T (p.Pro566=)	Mucopolysaccharidosis, MPS-IV-B [RCV002206604]	likely benign	3	33014092	33014092	Human	1	name
152030542	CV1622235	single nucleotide variant	NM_000404.4(GLB1):c.1785G>A (p.Arg595=)	Mucopolysaccharidosis, MPS-IV-B [RCV002186494]	likely benign	3	32997294	32997294	Human	1	name
152052143	CV1622564	single nucleotide variant	NM_000404.4(GLB1):c.1215A>G (p.Thr405=)	Mucopolysaccharidosis, MPS-IV-B [RCV002207654]	likely benign	3	33021584	33021584	Human	1	name
152104476	CV1622639	single nucleotide variant	NM_000404.4(GLB1):c.1545C>T (p.Asp515=)	Mucopolysaccharidosis, MPS-IV-B [RCV002214617]	likely benign	3	33014245	33014245	Human	1	name
152112440	CV1623639	single nucleotide variant	NM_000404.4(GLB1):c.1995C>G (p.Pro665=)	Mucopolysaccharidosis, MPS-IV-B [RCV002134657]	likely benign	3	32997084	32997084	Human	1	name
152060267	CV1628075	single nucleotide variant	NM_000404.4(GLB1):c.1656T>C (p.Tyr552=)	Mucopolysaccharidosis, MPS-IV-B [RCV002190440]	likely benign	3	33014134	33014134	Human	1	name
152132153	CV1633329	single nucleotide variant	NM_000404.4(GLB1):c.1174C>T (p.Leu392=)	Mucopolysaccharidosis, MPS-IV-B [RCV002137062]	likely benign	3	33021625	33021625	Human	1	name
152090136	CV1634119	single nucleotide variant	NM_000404.4(GLB1):c.1665C>T (p.Asn555=)	Mucopolysaccharidosis, MPS-IV-B [RCV002194187]	likely benign	3	33014125	33014125	Human	1	name
152135304	CV1634421	single nucleotide variant	NM_000404.4(GLB1):c.1701G>A (p.Gln567=)	Mucopolysaccharidosis, MPS-IV-B [RCV002218634]	likely benign	3	33014089	33014089	Human	1	name
152034426	CV1634913	single nucleotide variant	NM_000404.4(GLB1):c.1572G>C (p.Leu524=)	Mucopolysaccharidosis, MPS-IV-B [RCV002086969]	likely benign	3	33014218	33014218	Human	1	name
152034951	CV1639622	single nucleotide variant	NM_000404.4(GLB1):c.1821C>A (p.Ile607=)	Mucopolysaccharidosis, MPS-IV-B [RCV002187340]	likely benign	3	32997258	32997258	Human	1	name
152118212	CV1644075	single nucleotide variant	NM_000404.4(GLB1):c.1086A>G (p.Glu362=)	Mucopolysaccharidosis, MPS-IV-B [RCV002135370]	likely benign	3	33024308	33024308	Human	1	name
152098519	CV1650367	single nucleotide variant	NM_000404.4(GLB1):c.1317C>G (p.Val439=)	Mucopolysaccharidosis, MPS-IV-B [RCV002115020]	likely benign	3	33018478	33018478	Human	1	name
152029584	CV1653339	single nucleotide variant	NM_000404.4(GLB1):c.1518C>G (p.Leu506=)	Mucopolysaccharidosis, MPS-IV-B [RCV002085850]	likely benign	3	33014272	33014272	Human	1	name
152146882	CV1655986	single nucleotide variant	NM_000404.4(GLB1):c.1959C>T (p.Pro653=)	Mucopolysaccharidosis, MPS-IV-B [RCV002220188]	likely benign	3	32997120	32997120	Human	1	name
155709294	CV1775730	single nucleotide variant	NM_000404.4(GLB1):c.262T>C (p.Phe88Leu)	Mucopolysaccharidosis, MPS-IV-B [RCV002296121]	uncertain significance	3	33068954	33068954	Human	1	name
155736133	CV1781922	deletion	NM_000404.4(GLB1):c.835del (p.Gln279fs)	GM1 gangliosidosis type 2 [RCV002309663]	likely pathogenic	3	33051962	33051962	Human	1	name , alternate_id
156407077	CV1874805	single nucleotide variant	NM_000404.4(GLB1):c.1314A>C (p.Gly438=)	Mucopolysaccharidosis, MPS-IV-B [RCV003070720]	likely benign	3	33018481	33018481	Human	1	name
156353459	CV1879960	single nucleotide variant	NM_000404.4(GLB1):c.1917G>C (p.Val639=)	Mucopolysaccharidosis, MPS-IV-B [RCV003065045]	likely benign	3	32997162	32997162	Human	1	name
156276914	CV1880694	single nucleotide variant	NM_000404.4(GLB1):c.1599C>A (p.Gly533=)	Mucopolysaccharidosis, MPS-IV-B [RCV003060927]	likely benign	3	33014191	33014191	Human	1	name
156409529	CV1881272	single nucleotide variant	NM_000404.4(GLB1):c.1641G>T (p.Thr547=)	Mucopolysaccharidosis, MPS-IV-B [RCV003071708]	likely benign	3	33014149	33014149	Human	1	name
156252795	CV1883956	single nucleotide variant	NM_000404.4(GLB1):c.1557A>G (p.Ala519=)	Mucopolysaccharidosis, MPS-IV-B [RCV003086164]\|not provided [RCV003435871]	likely benign	3	33014233	33014233	Human	1	name
156017984	CV1885418	single nucleotide variant	NM_000404.4(GLB1):c.1311T>C (p.Asn437=)	Mucopolysaccharidosis, MPS-IV-B [RCV003077469]	likely benign	3	33018484	33018484	Human	1	name
156235095	CV1885428	single nucleotide variant	NM_000404.4(GLB1):c.1899A>G (p.Leu633=)	Mucopolysaccharidosis, MPS-IV-B [RCV003085526]	likely benign	3	32997180	32997180	Human	1	name
156024161	CV1895941	single nucleotide variant	NM_000404.4(GLB1):c.1176G>T (p.Leu392=)	Mucopolysaccharidosis, MPS-IV-B [RCV003100346]	likely benign	3	33021623	33021623	Human	1	name
10049655	CV190747	single nucleotide variant	NM_000404.4(GLB1):c.1068G>A (p.Lys356=)	not provided [RCV000173687]	uncertain significance	3	33046120	33046120	Human		name
156032349	CV1910903	single nucleotide variant	NM_000404.4(GLB1):c.1905T>C (p.Ala635=)	Mucopolysaccharidosis, MPS-IV-B [RCV002619907]	likely benign	3	32997174	32997174	Human	1	name
10048106	CV192236	single nucleotide variant	NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)	GM1 gangliosidosis [RCV001201192]\|GM1 gangliosidosis type 2 [RCV000673880]\|Mucopolysaccharidosis, MPS-IV-B [RCV001852152]\|not provided [RCV000175606]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	3	33072586	33072586	Human	3	name , alternate_id
156445200	CV1945200	single nucleotide variant	NM_000404.4(GLB1):c.119C>T (p.Ser40Phe)	Mucopolysaccharidosis, MPS-IV-B [RCV003116140]	uncertain significance	3	33072670	33072670	Human	1	name
156446987	CV1948681	single nucleotide variant	NM_000404.4(GLB1):c.1653T>C (p.Phe551=)	Mucopolysaccharidosis, MPS-IV-B [RCV003118511]	likely benign	3	33014137	33014137	Human	1	name
156446062	CV1951088	single nucleotide variant	NM_000404.4(GLB1):c.1725A>T (p.Gly575=)	Mucopolysaccharidosis, MPS-IV-B [RCV003117025]	likely benign	3	33014065	33014065	Human	1	name
156236735	CV1973021	deletion	NM_000404.4(GLB1):c.485del (p.Leu162fs)	Mucopolysaccharidosis, MPS-IV-B [RCV002597004]	pathogenic	3	33065530	33065530	Human	1	name
156394381	CV1983611	single nucleotide variant	NM_000404.4(GLB1):c.189C>G (p.Phe63Leu)	Mucopolysaccharidosis, MPS-IV-B [RCV002604990]	uncertain significance	3	33072600	33072600	Human	1	name
156401412	CV2013403	single nucleotide variant	NM_000404.4(GLB1):c.1725A>G (p.Gly575=)	Mucopolysaccharidosis, MPS-IV-B [RCV002726037]	likely benign	3	33014065	33014065	Human	1	name
156201769	CV2021255	single nucleotide variant	NM_000404.4(GLB1):c.1176G>C (p.Leu392=)	Mucopolysaccharidosis, MPS-IV-B [RCV002711425]	likely benign	3	33021623	33021623	Human	1	name
155984435	CV2030322	single nucleotide variant	NM_000404.4(GLB1):c.1338T>C (p.Ala446=)	Mucopolysaccharidosis, MPS-IV-B [RCV002755473]	likely benign	3	33018457	33018457	Human	1	name
156008482	CV2046346	single nucleotide variant	NM_000404.4(GLB1):c.1254C>T (p.Tyr418=)	Mucopolysaccharidosis, MPS-IV-B [RCV002756549]	likely benign	3	33018541	33018541	Human	1	name
156019404	CV2061833	single nucleotide variant	NM_000404.4(GLB1):c.1602C>T (p.His534=)	Mucopolysaccharidosis, MPS-IV-B [RCV002820540]	likely benign	3	33014188	33014188	Human	1	name
156059283	CV2069153	deletion	NM_000404.4(GLB1):c.677del (p.Thr226fs)	Mucopolysaccharidosis, MPS-IV-B [RCV002846713]	pathogenic	3	33058145	33058145	Human	1	name
156084310	CV2079973	single nucleotide variant	NM_000404.4(GLB1):c.1854G>C (p.Val618=)	Mucopolysaccharidosis, MPS-IV-B [RCV002847491]	likely benign	3	32997225	32997225	Human	1	name
156226737	CV2081139	single nucleotide variant	NM_000404.4(GLB1):c.1011G>C (p.Leu337=)	Mucopolysaccharidosis, MPS-IV-B [RCV002853417]	likely benign	3	33046177	33046177	Human	1	name
156230339	CV2085222	deletion	NM_000404.4(GLB1):c.344del (p.Gly115fs)	Mucopolysaccharidosis, MPS-IV-B [RCV002876213]	pathogenic	3	33068872	33068872	Human	1	name
156190807	CV2086743	single nucleotide variant	NM_000404.4(GLB1):c.1854G>A (p.Val618=)	Mucopolysaccharidosis, MPS-IV-B [RCV002852132]	likely benign	3	32997225	32997225	Human	1	name
156112657	CV2093019	single nucleotide variant	NM_000404.4(GLB1):c.1716G>A (p.Gln572=)	Mucopolysaccharidosis, MPS-IV-B [RCV002913844]	likely benign	3	33014074	33014074	Human	1	name
156157386	CV2094952	single nucleotide variant	NM_000404.4(GLB1):c.184C>T (p.Arg62Cys)	GM1 gangliosidosis type 2 [RCV005400541]\|Mucopolysaccharidosis, MPS-IV-B [RCV002890858]	uncertain significance	3	33072605	33072605	Human	2	name , alternate_id
156325582	CV2098254	single nucleotide variant	NM_000404.4(GLB1):c.1416T>A (p.Thr472=)	Mucopolysaccharidosis, MPS-IV-B [RCV002899608]	likely benign	3	33016772	33016772	Human	1	name
156101036	CV2099269	deletion	NM_000404.4(GLB1):c.833del (p.Gly278fs)	GM1 gangliosidosis type 2 [RCV005028010]\|Mucopolysaccharidosis, MPS-IV-B [RCV002913404]	pathogenic	3	33051964	33051964	Human	2	name , alternate_id
155983720	CV2101204	single nucleotide variant	NM_000404.4(GLB1):c.1110A>C (p.Pro370=)	Mucopolysaccharidosis, MPS-IV-B [RCV002882056]	likely benign	3	33024284	33024284	Human	1	name
156113718	CV2104518	single nucleotide variant	NM_000404.4(GLB1):c.1947C>T (p.Thr649=)	Mucopolysaccharidosis, MPS-IV-B [RCV002927537]	likely benign	3	32997132	32997132	Human	1	name
156311770	CV2120059	single nucleotide variant	NM_000404.4(GLB1):c.113G>A (p.Arg38Gln)	Mucopolysaccharidosis, MPS-IV-B [RCV002962662]	uncertain significance	3	33072676	33072676	Human	1	name
156377412	CV2124291	single nucleotide variant	NM_000404.4(GLB1):c.1047T>A (p.Ala349=)	Mucopolysaccharidosis, MPS-IV-B [RCV002942852]	likely benign	3	33046141	33046141	Human	1	name
156013505	CV2133800	single nucleotide variant	NM_000404.4(GLB1):c.1467C>A (p.Ile489=)	Mucopolysaccharidosis, MPS-IV-B [RCV003017869]	likely benign	3	33016721	33016721	Human	1	name
156285029	CV2134074	single nucleotide variant	NM_000404.4(GLB1):c.1647G>C (p.Pro549=)	Mucopolysaccharidosis, MPS-IV-B [RCV003009736]	likely benign	3	33014143	33014143	Human	1	name
155938846	CV2146486	single nucleotide variant	NM_000404.4(GLB1):c.1992A>C (p.Pro664=)	Mucopolysaccharidosis, MPS-IV-B [RCV003014130]	likely benign	3	32997087	32997087	Human	1	name
156323207	CV2162976	single nucleotide variant	NM_000404.4(GLB1):c.268G>C (p.Glu90Gln)	Mucopolysaccharidosis, MPS-IV-B [RCV003029314]	uncertain significance	3	33068948	33068948	Human	1	name
155984025	CV2163313	single nucleotide variant	NM_000404.4(GLB1):c.1680T>C (p.Ser560=)	Mucopolysaccharidosis, MPS-IV-B [RCV003034013]	likely benign	3	33014110	33014110	Human	1	name
156004818	CV2166711	single nucleotide variant	NM_000404.4(GLB1):c.1662G>T (p.Gly554=)	Mucopolysaccharidosis, MPS-IV-B [RCV003017442]	likely benign	3	33014128	33014128	Human	1	name
156000646	CV2168085	single nucleotide variant	NM_000404.4(GLB1):c.1389G>T (p.Leu463=)	Mucopolysaccharidosis, MPS-IV-B [RCV003034757]	likely benign	3	33016799	33016799	Human	1	name
156212654	CV2176364	single nucleotide variant	NM_000404.4(GLB1):c.1635C>T (p.Asn545=)	Mucopolysaccharidosis, MPS-IV-B [RCV003024866]	likely benign	3	33014155	33014155	Human	1	name
155964933	CV2179972	single nucleotide variant	NM_000404.4(GLB1):c.278C>A (p.Pro93Gln)	Mucopolysaccharidosis, MPS-IV-B [RCV003033120]	uncertain significance	3	33068938	33068938	Human	1	name
156350837	CV2189650	single nucleotide variant	NM_000404.4(GLB1):c.209T>C (p.Leu70Pro)	Mucopolysaccharidosis, MPS-IV-B [RCV003048321]	uncertain significance	3	33072580	33072580	Human	1	name
243059832	CV2412648	single nucleotide variant	NM_000404.4(GLB1):c.206T>C (p.Leu69Pro)	not provided [RCV003135376]	uncertain significance	3	33072583	33072583	Human		name
13783958	CV244010	single nucleotide variant	NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)	GM1 gangliosidosis type 2 [RCV000670448]\|Infantile GM1 gangliosidosis [RCV000766231]\|Mucopolysaccharidosis, MPS-IV-B [RCV001387511]\|not provided [RCV001091797]	pathogenic	3	33068940	33068940	Human	3	name , alternate_id
329848933	CV2523684	single nucleotide variant	NM_000404.4(GLB1):c.130G>T (p.Asp44Tyr)	Infantile GM1 gangliosidosis [RCV003225699]	likely pathogenic	3	33072659	33072659	Human	1	name , alternate_id
401915181	CV2795177	single nucleotide variant	NM_000404.4(GLB1):c.253C>T (p.Pro85Ser)	Mucopolysaccharidosis, MPS-IV-B [RCV003388961]	likely pathogenic	3	33068963	33068963	Human	1	name
11590140	CV290776	single nucleotide variant	NM_000404.4(GLB1):c.1530G>A (p.Thr510=)	GM1 gangliosidosis [RCV000361475]\|Mucopolysaccharidosis, MPS-IV-B [RCV000316174]\|Mucopolysaccharidosis, MPS-IV-B [RCV000874904]	likely benign\|uncertain significance	3	33014260	33014260	Human	2	name
11588538	CV294409	single nucleotide variant	NM_000404.4(GLB1):c.1032T>C (p.Thr344=)	GM1 gangliosidosis [RCV000403633]\|Mucopolysaccharidosis, MPS-IV-B [RCV000303902]\|Mucopolysaccharidosis, MPS-IV-B [RCV000876887]\|not provided [RCV003333979]	benign\|likely benign\|uncertain significance	3	33046156	33046156	Human	2	name
404988955	CV3084042	single nucleotide variant	NM_000404.4(GLB1):c.160A>G (p.Ser54Gly)	Mucopolysaccharidosis, MPS-IV-B [RCV003782234]	likely pathogenic	3	33072629	33072629	Human	1	name
404996243	CV3085470	single nucleotide variant	NM_000404.4(GLB1):c.1899A>T (p.Leu633=)	Mucopolysaccharidosis, MPS-IV-B [RCV003783001]	likely benign	3	32997180	32997180	Human	1	name
404997987	CV3085768	single nucleotide variant	NM_000404.4(GLB1):c.2022G>A (p.Leu674=)	Mucopolysaccharidosis, MPS-IV-B [RCV003783138]	likely benign	3	32997057	32997057	Human	1	name
404996552	CV3088525	single nucleotide variant	NM_000404.4(GLB1):c.1455T>C (p.Tyr485=)	Mucopolysaccharidosis, MPS-IV-B [RCV003793302]	likely benign	3	33016733	33016733	Human	1	name
404996688	CV3088537	single nucleotide variant	NM_000404.4(GLB1):c.1380G>A (p.Val460=)	Mucopolysaccharidosis, MPS-IV-B [RCV003793314]	likely benign	3	33016808	33016808	Human	1	name
402490502	CV3090983	single nucleotide variant	NM_000404.4(GLB1):c.1707C>T (p.Thr569=)	Mucopolysaccharidosis, MPS-IV-B [RCV003787485]	likely benign	3	33014083	33014083	Human	1	name
402521081	CV3091984	single nucleotide variant	NM_000404.4(GLB1):c.1119A>T (p.Ala373=)	Mucopolysaccharidosis, MPS-IV-B [RCV003790430]	likely benign	3	33024275	33024275	Human	1	name
402496508	CV3092502	single nucleotide variant	NM_000404.4(GLB1):c.1113G>A (p.Lys371=)	Mucopolysaccharidosis, MPS-IV-B [RCV003788122]	likely benign	3	33024281	33024281	Human	1	name
405045593	CV3097199	duplication	NM_000404.4(GLB1):c.560dup (p.Asn187fs)	Mucopolysaccharidosis, MPS-IV-B [RCV003807779]	pathogenic	3	33058261	33058262	Human	1	name
405047579	CV3097417	single nucleotide variant	NM_000404.4(GLB1):c.151A>C (p.Ile51Leu)	Mucopolysaccharidosis, MPS-IV-B [RCV003807997]	likely pathogenic	3	33072638	33072638	Human	1	name
405048841	CV3097510	deletion	NM_000404.4(GLB1):c.591del (p.Phe197fs)	Mucopolysaccharidosis, MPS-IV-B [RCV003808090]	pathogenic	3	33058231	33058231	Human	1	name
405050336	CV3097813	single nucleotide variant	NM_000404.4(GLB1):c.1056C>T (p.Asn352=)	Mucopolysaccharidosis, MPS-IV-B [RCV003808226]	likely benign	3	33046132	33046132	Human	1	name
405001036	CV3099255	single nucleotide variant	NM_000404.4(GLB1):c.1317C>T (p.Val439=)	Mucopolysaccharidosis, MPS-IV-B [RCV003793676]	likely benign	3	33018478	33018478	Human	1	name
404979046	CV3099325	single nucleotide variant	NM_000404.4(GLB1):c.1329A>T (p.Ala443=)	Mucopolysaccharidosis, MPS-IV-B [RCV003791153]	likely benign	3	33018466	33018466	Human	1	name
404979652	CV3099456	single nucleotide variant	NM_000404.4(GLB1):c.1692C>T (p.Asp564=)	Mucopolysaccharidosis, MPS-IV-B [RCV003791284]	likely benign	3	33014098	33014098	Human	1	name
404980848	CV3099660	single nucleotide variant	NM_000404.4(GLB1):c.148T>C (p.Tyr50His)	Mucopolysaccharidosis, MPS-IV-B [RCV003791489]	likely pathogenic	3	33072641	33072641	Human	1	name
404981033	CV3099692	single nucleotide variant	NM_000404.4(GLB1):c.1662G>A (p.Gly554=)	Mucopolysaccharidosis, MPS-IV-B [RCV003791521]	likely benign	3	33014128	33014128	Human	1	name
405071281	CV3099857	single nucleotide variant	NM_000404.4(GLB1):c.1350C>T (p.Ile450=)	Mucopolysaccharidosis, MPS-IV-B [RCV003799572]	likely benign	3	33016838	33016838	Human	1	name
405074839	CV3100220	single nucleotide variant	NM_000404.4(GLB1):c.1855C>T (p.Leu619=)	Mucopolysaccharidosis, MPS-IV-B [RCV003799773]	likely benign	3	32997224	32997224	Human	1	name
405043256	CV3101006	single nucleotide variant	NM_000404.4(GLB1):c.1083A>G (p.Pro361=)	Mucopolysaccharidosis, MPS-IV-B [RCV003807706]	likely benign	3	33024311	33024311	Human	1	name
405153007	CV3101974	single nucleotide variant	NM_000404.4(GLB1):c.1263A>C (p.Thr421=)	Mucopolysaccharidosis, MPS-IV-B [RCV003801578]	likely benign	3	33018532	33018532	Human	1	name
405042673	CV3103717	single nucleotide variant	NM_000404.4(GLB1):c.1812C>T (p.Pro604=)	Mucopolysaccharidosis, MPS-IV-B [RCV003797435]	likely benign	3	32997267	32997267	Human	1	name
405168382	CV3104114	single nucleotide variant	NM_000404.4(GLB1):c.1224G>A (p.Gln408=)	Mucopolysaccharidosis, MPS-IV-B [RCV003802791]	likely benign	3	33021575	33021575	Human	1	name
405169742	CV3104257	single nucleotide variant	NM_000404.4(GLB1):c.1842C>T (p.Asn614=)	Mucopolysaccharidosis, MPS-IV-B [RCV003802934]	likely benign	3	32997237	32997237	Human	1	name
405037049	CV3106259	single nucleotide variant	NM_000404.4(GLB1):c.1761C>T (p.Asn587=)	Mucopolysaccharidosis, MPS-IV-B [RCV003796950]	likely benign	3	32997318	32997318	Human	1	name
405016084	CV3106986	single nucleotide variant	NM_000404.4(GLB1):c.2016A>T (p.Ser672=)	Mucopolysaccharidosis, MPS-IV-B [RCV003795156]	likely benign	3	32997063	32997063	Human	1	name
405055298	CV3107866	single nucleotide variant	NM_000404.4(GLB1):c.1038G>A (p.Lys346=)	Mucopolysaccharidosis, MPS-IV-B [RCV003808612]	likely benign	3	33046150	33046150	Human	1	name
405035858	CV3108634	duplication	NM_000404.4(GLB1):c.426dup (p.Glu143fs)	Mucopolysaccharidosis, MPS-IV-B [RCV003807092]	pathogenic	3	33068260	33068261	Human	1	name
405161510	CV3109874	single nucleotide variant	NM_000404.4(GLB1):c.1570C>T (p.Leu524=)	Mucopolysaccharidosis, MPS-IV-B [RCV003802233]	likely benign	3	33014220	33014220	Human	1	name
405154075	CV3111200	single nucleotide variant	NM_000404.4(GLB1):c.1500T>G (p.Thr500=)	Mucopolysaccharidosis, MPS-IV-B [RCV003801656]	likely benign	3	33014290	33014290	Human	1	name
405070924	CV3111378	single nucleotide variant	NM_000404.4(GLB1):c.1689A>G (p.Pro563=)	Mucopolysaccharidosis, MPS-IV-B [RCV003809717]	likely benign	3	33014101	33014101	Human	1	name
405125528	CV3111847	single nucleotide variant	NM_000404.4(GLB1):c.1911G>T (p.Thr637=)	Mucopolysaccharidosis, MPS-IV-B [RCV003815320]	likely benign	3	32997168	32997168	Human	1	name
405108689	CV3112363	single nucleotide variant	NM_000404.4(GLB1):c.1314A>G (p.Gly438=)	Mucopolysaccharidosis, MPS-IV-B [RCV003813206]	likely benign	3	33018481	33018481	Human	1	name
405043676	CV3112928	single nucleotide variant	NM_000404.4(GLB1):c.1584A>G (p.Gly528=)	Mucopolysaccharidosis, MPS-IV-B [RCV003807595]	likely benign	3	33014206	33014206	Human	1	name
405081531	CV3114898	single nucleotide variant	NM_000404.4(GLB1):c.1801T>C (p.Leu601=)	Mucopolysaccharidosis, MPS-IV-B [RCV003810461]	likely benign	3	32997278	32997278	Human	1	name
405266111	CV3201890	single nucleotide variant	NM_000404.4(GLB1):c.1584A>C (p.Gly528=)	GLB1-related disorder [RCV004536893]	likely benign	3	33014206	33014206	Human		name , trait
407427324	CV3410603	single nucleotide variant	NM_000404.4(GLB1):c.146G>C (p.Arg49Pro)	GM1 gangliosidosis [RCV004586250]\|GM1 gangliosidosis type 2 [RCV005023593]	likely pathogenic	3	33072643	33072643	Human	2	name , alternate_id
407477304	CV3495095	single nucleotide variant	NM_000404.4(GLB1):c.101T>C (p.Ile34Thr)	not specified [RCV004690997]	uncertain significance	3	33072688	33072688	Human		name
597638100	CV3717462	duplication	NM_000404.4(GLB1):c.488dup (p.Val164fs)	GM1 gangliosidosis type 2 [RCV005024596]	likely pathogenic	3	33065526	33065527	Human	1	name , alternate_id
597638105	CV3717463	deletion	NM_000404.4(GLB1):c.468del (p.Ala157fs)	GM1 gangliosidosis type 2 [RCV005024597]	likely pathogenic	3	33065547	33065547	Human	1	name , alternate_id
597638123	CV3717467	single nucleotide variant	NM_000404.4(GLB1):c.289C>T (p.Gln97Ter)	GM1 gangliosidosis type 2 [RCV005024600]	likely pathogenic	3	33068927	33068927	Human	1	name , alternate_id
597638127	CV3717468	single nucleotide variant	NM_000404.4(GLB1):c.288C>G (p.Tyr96Ter)	GM1 gangliosidosis type 2 [RCV005024601]	likely pathogenic	3	33068928	33068928	Human	1	name , alternate_id
597716541	CV3717469	single nucleotide variant	NM_000404.4(GLB1):c.275G>A (p.Trp92Ter)	GM1 gangliosidosis type 2 [RCV005035308]	pathogenic	3	33068941	33068941	Human	1	name , alternate_id
597869014	CV3869500	single nucleotide variant	NM_000404.4(GLB1):c.1428G>A (p.Leu476=)	Mucopolysaccharidosis, MPS-IV-B [RCV005215431]	likely benign	3	33016760	33016760	Human	1	name
597857221	CV3877769	single nucleotide variant	NM_000404.4(GLB1):c.1152A>C (p.Thr384=)	Mucopolysaccharidosis, MPS-IV-B [RCV005229078]	likely benign	3	33021647	33021647	Human	1	name
597860490	CV3879914	single nucleotide variant	NM_000404.4(GLB1):c.1029C>T (p.Leu343=)	Mucopolysaccharidosis, MPS-IV-B [RCV005229494]	likely benign	3	33046159	33046159	Human	1	name
13515395	CV488319	single nucleotide variant	NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)	GM1 gangliosidosis [RCV005240291]\|GM1 gangliosidosis type 2 [RCV000669165]\|GM1 gangliosidosis type 2 [RCV000987141]\|Infantile GM1 gangliosidosis [RCV002245028]\|Mucopolysaccharidosis, MPS-IV-B [RCV001050379]\|not provided [RCV000597388]	pathogenic\|likely pathogenic	3	33072614	33072614	Human	4	name , alternate_id
13532832	CV511481	single nucleotide variant	NM_000404.4(GLB1):c.146G>A (p.Arg49His)	GM1 gangliosidosis type 2 [RCV000672724]\|Inborn genetic diseases [RCV000624583]\|Mucopolysaccharidosis, MPS-IV-B [RCV001057694]\|not provided [RCV003238787]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	3	33072643	33072643	Human	3	name , alternate_id
13787902	CV542962	deletion	NM_000404.4(GLB1):c.302del (p.Asp101fs)	GM1 gangliosidosis type 2 [RCV000673695]	likely pathogenic	3	33068914	33068914	Human	1	name , alternate_id
13784633	CV542965	single nucleotide variant	NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys)	GM1 gangliosidosis type 2 [RCV000671078]\|Mucopolysaccharidosis, MPS-IV-B [RCV003767991]\|Mucopolysaccharidosis, MPS-IV-B [RCV005240435]	pathogenic\|likely pathogenic\|uncertain significance	3	33068968	33068968	Human	2	name , alternate_id
13790068	CV542967	single nucleotide variant	NM_000404.4(GLB1):c.188T>A (p.Phe63Tyr)	GM1 gangliosidosis type 2 [RCV000674840]	uncertain significance	3	33072601	33072601	Human	1	name , alternate_id
13783641	CV542970	single nucleotide variant	NM_000404.4(GLB1):c.152T>A (p.Ile51Asn)	GM1 gangliosidosis type 2 [RCV000670208]\|Mucopolysaccharidosis, MPS-IV-B [RCV003767982]	pathogenic\|uncertain significance	3	33072637	33072637	Human	2	name , alternate_id
13791722	CV543117	duplication	NM_000404.4(GLB1):c.694dup (p.Ala232fs)	GM1 gangliosidosis type 2 [RCV000667817]\|Mucopolysaccharidosis, MPS-IV-B [RCV001048896]	pathogenic\|likely pathogenic	3	33058127	33058128	Human	2	name , alternate_id
13786854	CV543188	deletion	NM_000404.4(GLB1):c.846del (p.Thr283fs)	GM1 gangliosidosis [RCV001175077]\|GM1 gangliosidosis type 2 [RCV000673140]\|GM1 gangliosidosis type 2 [RCV000987140]\|Mucopolysaccharidosis, MPS-IV-B [RCV003768002]	pathogenic	3	33051951	33051951	Human	3	name , alternate_id
13788188	CV543220	deletion	NM_000404.4(GLB1):c.626del (p.His209fs)	GM1 gangliosidosis type 2 [RCV000673838]	likely pathogenic	3	33058196	33058196	Human	1	name , alternate_id
13831667	CV582165	single nucleotide variant	NM_000404.4(GLB1):c.281G>A (p.Gly94Glu)	Mucopolysaccharidosis, MPS-IV-B [RCV001862116]\|not provided [RCV000722348]	uncertain significance	3	33068935	33068935	Human	1	name
14746718	CV672008	single nucleotide variant	NM_000404.4(GLB1):c.253C>A (p.Pro85Thr)	GM1 gangliosidosis type 2 [RCV000844884]	uncertain significance	3	33068963	33068963	Human	1	name
15138717	CV691372	single nucleotide variant	NM_000404.4(GLB1):c.1938A>G (p.Ser646=)	Mucopolysaccharidosis, MPS-IV-B [RCV000877204]	likely benign	3	32997141	32997141	Human	1	name
15133490	CV691373	single nucleotide variant	NM_000404.4(GLB1):c.1833G>A (p.Ser611=)	GLB1-related disorder [RCV004530845]\|Mucopolysaccharidosis, MPS-IV-B [RCV000876321]\|not provided [RCV001200662]	benign\|likely benign	3	32997246	32997246	Human	2	name
15144480	CV691374	single nucleotide variant	NM_000404.4(GLB1):c.1767C>T (p.Gly589=)	Mucopolysaccharidosis, MPS-IV-B [RCV001434479]	likely benign	3	32997312	32997312	Human	1	name
15123020	CV691375	single nucleotide variant	NM_000404.4(GLB1):c.1641G>A (p.Thr547=)	Mucopolysaccharidosis, MPS-IV-B [RCV000874516]	likely benign	3	33014149	33014149	Human	1	name
15132742	CV691376	single nucleotide variant	NM_000404.4(GLB1):c.1326A>G (p.Arg442=)	Mucopolysaccharidosis, MPS-IV-B [RCV000876200]	likely benign	3	33018469	33018469	Human	1	name
15152889	CV698038	single nucleotide variant	NM_000404.4(GLB1):c.1861C>T (p.Leu621=)	Mucopolysaccharidosis, MPS-IV-B [RCV000945970]	likely benign	3	32997218	32997218	Human	1	name
15105246	CV698040	single nucleotide variant	NM_000404.4(GLB1):c.1209C>G (p.Pro403=)	Mucopolysaccharidosis, MPS-IV-B [RCV000959846]	benign	3	33021590	33021590	Human	1	name
15145510	CV708787	single nucleotide variant	NM_000404.4(GLB1):c.1009C>T (p.Leu337=)	Mucopolysaccharidosis, MPS-IV-B [RCV000967010]	likely benign	3	33046179	33046179	Human	1	name
15155078	CV720405	single nucleotide variant	NM_000404.4(GLB1):c.1998G>A (p.Pro666=)	Mucopolysaccharidosis, MPS-IV-B [RCV001485643]	likely benign	3	32997081	32997081	Human	1	name
15168180	CV720406	single nucleotide variant	NM_000404.4(GLB1):c.1518C>T (p.Leu506=)	Mucopolysaccharidosis, MPS-IV-B [RCV001479093]	likely benign	3	33014272	33014272	Human	1	name
15105623	CV720407	single nucleotide variant	NM_000404.4(GLB1):c.1092T>C (p.Pro364=)	Mucopolysaccharidosis, MPS-IV-B [RCV001503681]	likely benign	3	33024302	33024302	Human	1	name
15184979	CV734026	single nucleotide variant	NM_000404.4(GLB1):c.2016A>G (p.Ser672=)	GM1 gangliosidosis [RCV001150009]\|GM1 gangliosidosis type 2 [RCV001563857]\|GM1 gangliosidosis type 3 [RCV001563858]\|Infantile GM1 gangliosidosis [RCV001563856]\|Mucopolysaccharidosis, MPS-IV-B [RCV000908403]\|Mucopolysaccharidosis, MPS-IV-B [RCV001150010]\|not provided [RCV003438575]	likely benign\|uncertain significance	3	32997063	32997063	Human	5	name , alternate_id
15138178	CV734027	single nucleotide variant	NM_000404.4(GLB1):c.1830C>G (p.Thr610=)	Mucopolysaccharidosis, MPS-IV-B [RCV000898934]	likely benign	3	32997249	32997249	Human	1	name
15167167	CV734028	single nucleotide variant	NM_000404.4(GLB1):c.1644C>T (p.Leu548=)	Mucopolysaccharidosis, MPS-IV-B [RCV002065724]	likely benign	3	33014146	33014146	Human	1	name
15133732	CV748205	single nucleotide variant	NM_000404.4(GLB1):c.1356G>A (p.Gln452=)	Mucopolysaccharidosis, MPS-IV-B [RCV001406460]	likely benign	3	33016832	33016832	Human	1	name
15193903	CV748206	single nucleotide variant	NM_000404.4(GLB1):c.1122T>C (p.Tyr374=)	Mucopolysaccharidosis, MPS-IV-B [RCV001858568]	likely benign	3	33024272	33024272	Human	1	name
15101715	CV763816	single nucleotide variant	NM_000404.4(GLB1):c.1992A>G (p.Pro664=)	Mucopolysaccharidosis, MPS-IV-B [RCV000936854]	likely benign	3	32997087	32997087	Human	1	name
15117396	CV763817	single nucleotide variant	NM_000404.4(GLB1):c.1110A>G (p.Pro370=)	Mucopolysaccharidosis, MPS-IV-B [RCV001481416]	likely benign	3	33024284	33024284	Human	1	name
15098637	CV763818	single nucleotide variant	NM_000404.4(GLB1):c.1077A>G (p.Lys359=)	Mucopolysaccharidosis, MPS-IV-B [RCV000936322]	likely benign	3	33024317	33024317	Human	1	name
28903323	CV888670	single nucleotide variant	NM_000404.4(GLB1):c.1095C>T (p.Ile365=)	GLB1-related disorder [RCV004538366]\|GM1 gangliosidosis [RCV001143989]\|Mucopolysaccharidosis, MPS-IV-B [RCV001143990]\|Mucopolysaccharidosis, MPS-IV-B [RCV001506617]\|not provided [RCV003438677]	likely benign\|uncertain significance	3	33024299	33024299	Human	2	name
34891489	CV906152	single nucleotide variant	NM_000404.4(GLB1):c.149A>G (p.Tyr50Cys)	Infantile GM1 gangliosidosis [RCV001175103]\|Mucopolysaccharidosis, MPS-IV-B [RCV001384625]	pathogenic\|uncertain significance	3	33072640	33072640	Human	2	name , alternate_id
34895800	CV916909	deletion	NM_000404.4(GLB1):c.699del (p.Gln234fs)	GM1 gangliosidosis [RCV001192991]\|GM1 gangliosidosis type 2 [RCV005029738]\|Mucopolysaccharidosis, MPS-IV-B [RCV001859167]\|not provided [RCV001268285]	pathogenic\|likely pathogenic	3	33058123	33058123	Human	3	name , alternate_id
38461777	CV943477	single nucleotide variant	NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys)	GM1 gangliosidosis type 2 [RCV005029800]\|Inborn genetic diseases [RCV004978165]\|Mucopolysaccharidosis, MPS-IV-B [RCV001231267]\|not specified [RCV003235505]	likely pathogenic\|uncertain significance	3	33072598	33072598	Human	3	name , alternate_id
8639821	CV98804	single nucleotide variant	NM_000404.4(GLB1):c.1426C>T (p.Leu476=)	GLB1-related disorder [RCV004537310]\|GM1 gangliosidosis [RCV000382510]\|Infantile GM1 gangliosidosis [RCV001449934]\|Mucopolysaccharidosis, MPS-IV-B [RCV000327956]\|Mucopolysaccharidosis, MPS-IV-B [RCV001082369]\|not provided [RCV000078703]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	33016762	33016762	Human	3	name , alternate_id
8639824	CV98807	single nucleotide variant	NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)	GM1 gangliosidosis [RCV003987350]\|GM1 gangliosidosis type 2 [RCV000671504]\|Mucopolysaccharidosis, MPS-IV-B [RCV002513824]\|not provided [RCV000675686]	pathogenic\|likely pathogenic	3	33072618	33072618	Human	3	name , alternate_id
8639826	CV98809	single nucleotide variant	NM_000404.4(GLB1):c.1824G>C (p.Leu608=)	GM1 gangliosidosis [RCV000406798]\|Infantile GM1 gangliosidosis [RCV001527518]\|Mucopolysaccharidosis, MPS-IV-B [RCV000288777]\|Mucopolysaccharidosis, MPS-IV-B [RCV001512265]\|not provided [RCV000675678]\|not specified [RCV000078709]	benign	3	32997255	32997255	Human	3	name , alternate_id
126726270	CV989480	single nucleotide variant	NM_000404.4(GLB1):c.218A>G (p.Lys73Arg)	GM1 gangliosidosis type 3 [RCV001810021]\|Mucopolysaccharidosis, MPS-IV-B [RCV001302836]	uncertain significance	3	33072571	33072571	Human	2	name
126767009	CV1025207	single nucleotide variant	NM_000404.4(GLB1):c.845C>T (p.Ser282Phe)	Mucopolysaccharidosis, MPS-IV-B [RCV001342649]	uncertain significance	3	33051952	33051952	Human	1	name
127254584	CV1055331	duplication	NM_000404.4(GLB1):c.2006dup (p.Asn669fs)	GLB1-related disorder [RCV005232301]\|GM1 gangliosidosis type 2 [RCV004796618]\|Mucopolysaccharidosis, MPS-IV-B [RCV001379192]	pathogenic\|likely pathogenic	3	32997072	32997073	Human	3	name
127246527	CV1055332	single nucleotide variant	NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)	GM1 gangliosidosis [RCV001732176]\|Mucopolysaccharidosis, MPS-IV-B [RCV001377615]	likely pathogenic	3	33058265	33058265	Human	2	name
127242728	CV1059732	single nucleotide variant	NM_000404.4(GLB1):c.994G>A (p.Asp332Asn)	GM1 gangliosidosis [RCV004690099]\|GM1 gangliosidosis type 2 [RCV005038188]\|Mucopolysaccharidosis, MPS-IV-B [RCV001383879]\|not provided [RCV003327516]	pathogenic	3	33046194	33046194	Human	3	name , alternate_id
8574321	CV106590	duplication	NM_000404.4(GLB1):c.1188dup (p.Pro397fs)	Infantile GM1 gangliosidosis [RCV000087091]	pathogenic	3	33021610	33021611	Human	1	name , alternate_id
8574322	CV106592	single nucleotide variant	NM_000404.4(GLB1):c.922T>C (p.Phe308Leu)	Infantile GM1 gangliosidosis [RCV000087093]	pathogenic	3	33051791	33051791	Human	1	name , alternate_id
127268660	CV1092384	single nucleotide variant	NM_000404.4(GLB1):c.782A>G (p.Lys261Arg)	GLB1-related disorder [RCV004533719]\|Mucopolysaccharidosis, MPS-IV-B [RCV001430040]	likely benign\|uncertain significance	3	33053501	33053501	Human	2	name
150451081	CV1200418	single nucleotide variant	NM_000404.4(GLB1):c.821T>C (p.Leu274Pro)	GM1 gangliosidosis type 2 [RCV001580715]\|GM1 gangliosidosis type 3 [RCV001580716]\|Infantile GM1 gangliosidosis [RCV001580714]\|Mucopolysaccharidosis, MPS-IV-B [RCV001580717]	uncertain significance	3	33051976	33051976	Human	4	name , alternate_id
150521116	CV1290180	single nucleotide variant	NM_000404.4(GLB1):c.451G>T (p.Asp151Tyr)	GM1 gangliosidosis [RCV004798916]\|Infantile GM1 gangliosidosis [RCV001730468]	pathogenic\|likely pathogenic	3	33068236	33068236	Human	2	name , alternate_id
150547693	CV1292127	single nucleotide variant	NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys)	GM1 gangliosidosis [RCV004798927]\|GM1 gangliosidosis type 2 [RCV005038287]\|Mucopolysaccharidosis, MPS-IV-B [RCV002290745]	pathogenic\|likely pathogenic	3	33046190	33046190	Human	3	name , alternate_id
151348537	CV1321053	single nucleotide variant	NM_000404.4(GLB1):c.808T>C (p.Tyr270His)	Infantile GM1 gangliosidosis [RCV001803466]	not provided	3	33051989	33051989	Human		name , alternate_id
151348489	CV1324054	single nucleotide variant	NM_000404.4(GLB1):c.884A>G (p.Asp295Gly)	GM1 gangliosidosis type 3 [RCV001807967]\|Mucopolysaccharidosis, MPS-IV-B [RCV002542425]	uncertain significance	3	33051913	33051913	Human	2	name
151811889	CV1337403	single nucleotide variant	NM_000404.4(GLB1):c.850A>G (p.Ile284Val)	Mucopolysaccharidosis, MPS-IV-B [RCV001943887]	uncertain significance	3	33051947	33051947	Human	1	name
151711786	CV1338849	duplication	NM_000404.4(GLB1):c.591dup (p.Asp198Ter)	GM1 gangliosidosis type 2 [RCV002507682]\|Infantile GM1 gangliosidosis [RCV002246614]\|Mucopolysaccharidosis, MPS-IV-B [RCV002004514]	pathogenic	3	33058230	33058231	Human	3	name , alternate_id
151786540	CV1345307	single nucleotide variant	NM_000404.4(GLB1):c.524A>G (p.Gln175Arg)	Mucopolysaccharidosis, MPS-IV-B [RCV001893958]	uncertain significance	3	33065491	33065491	Human	1	name
8659647	CV134600	single nucleotide variant	NM_000404.4(GLB1):c.325C>T (p.Arg109Trp)	GM1 gangliosidosis [RCV000372110]\|Mucopolysaccharidosis, MPS-IV-B [RCV000338369]\|Mucopolysaccharidosis, MPS-IV-B [RCV001522631]\|not provided [RCV000675685]\|not specified [RCV000117143]	benign\|likely benign\|conflicting interpretations of pathogenicity	3	33068891	33068891	Human	2	name
151720399	CV1350291	single nucleotide variant	NM_000404.4(GLB1):c.517C>G (p.Leu173Val)	Mucopolysaccharidosis, MPS-IV-B [RCV002036528]	likely pathogenic	3	33065498	33065498	Human	1	name
151720417	CV1359753	single nucleotide variant	NM_000404.4(GLB1):c.905G>T (p.Ser302Ile)	Mucopolysaccharidosis, MPS-IV-B [RCV002036570]	uncertain significance	3	33051892	33051892	Human	1	name
151809806	CV1366982	deletion	NM_000404.4(GLB1):c.1142del (p.Lys381fs)	GM1 gangliosidosis type 2 [RCV002307812]\|Mucopolysaccharidosis, MPS-IV-B [RCV001939477]	pathogenic\|likely pathogenic	3	33024252	33024252	Human	2	name , alternate_id
151819558	CV1384282	single nucleotide variant	NM_000404.4(GLB1):c.625C>T (p.His209Tyr)	Mucopolysaccharidosis, MPS-IV-B [RCV001960487]	uncertain significance	3	33058197	33058197	Human	1	name
151794454	CV1387175	single nucleotide variant	NM_000404.4(GLB1):c.703G>A (p.Gly235Ser)	Mucopolysaccharidosis, MPS-IV-B [RCV001910397]	uncertain significance	3	33058119	33058119	Human	1	name
151712004	CV1391338	deletion	NM_000404.4(GLB1):c.2006del (p.Asn669fs)	Mucopolysaccharidosis, MPS-IV-B [RCV002005262]	uncertain significance	3	32997073	32997073	Human	1	name
151825282	CV1393678	deletion	NM_000404.4(GLB1):c.1310del (p.Asn437fs)	Mucopolysaccharidosis, MPS-IV-B [RCV001972704]	pathogenic	3	33018485	33018485	Human	1	name
151810132	CV1397009	single nucleotide variant	NM_000404.4(GLB1):c.779C>A (p.Pro260His)	Mucopolysaccharidosis, MPS-IV-B [RCV001940305]	uncertain significance	3	33053504	33053504	Human	1	name
151803373	CV1415894	single nucleotide variant	NM_000404.4(GLB1):c.424A>T (p.Lys142Ter)	Mucopolysaccharidosis, MPS-IV-B [RCV001927524]	pathogenic	3	33068263	33068263	Human	1	name
151768560	CV1421164	single nucleotide variant	NM_000404.4(GLB1):c.569G>A (p.Gly190Asp)	Infantile GM1 gangliosidosis [RCV002290779]\|Mucopolysaccharidosis, MPS-IV-B [RCV001863251]\|Mucopolysaccharidosis, MPS-IV-B [RCV004782800]	pathogenic\|likely pathogenic	3	33058253	33058253	Human	2	name , alternate_id
151788434	CV1422517	single nucleotide variant	NM_000404.4(GLB1):c.982C>T (p.Pro328Ser)	Mucopolysaccharidosis, MPS-IV-B [RCV001898423]\|not specified [RCV003317543]	pathogenic\|uncertain significance	3	33046206	33046206	Human	1	name
151716806	CV1433853	single nucleotide variant	NM_000404.4(GLB1):c.521A>C (p.Tyr174Ser)	Mucopolysaccharidosis, MPS-IV-B [RCV002024552]	likely pathogenic	3	33065494	33065494	Human	1	name
151710824	CV1439019	single nucleotide variant	NM_000404.4(GLB1):c.397G>T (p.Gly133Ter)	Mucopolysaccharidosis, MPS-IV-B [RCV001999719]	pathogenic	3	33068290	33068290	Human	1	name
151718483	CV1452917	single nucleotide variant	NM_000404.4(GLB1):c.836A>G (p.Gln279Arg)	Mucopolysaccharidosis, MPS-IV-B [RCV002030195]	uncertain significance	3	33051961	33051961	Human	1	name
151796072	CV1453775	single nucleotide variant	NM_000404.4(GLB1):c.586G>C (p.Asp196His)	Mucopolysaccharidosis, MPS-IV-B [RCV001913261]	uncertain significance	3	33058236	33058236	Human	1	name
151711130	CV1468323	single nucleotide variant	NM_000404.4(GLB1):c.380G>T (p.Cys127Phe)	GM1 gangliosidosis type 2 [RCV005025590]\|Mucopolysaccharidosis, MPS-IV-B [RCV002001035]\|not specified [RCV004526893]	likely pathogenic\|uncertain significance	3	33068836	33068836	Human	2	name , alternate_id
151721303	CV1472922	single nucleotide variant	NM_000404.4(GLB1):c.751G>A (p.Ala251Thr)	Mucopolysaccharidosis, MPS-IV-B [RCV002039498]	uncertain significance	3	33053532	33053532	Human	1	name
151807672	CV1480418	duplication	NM_000404.4(GLB1):c.1336dup (p.Ala446fs)	Mucopolysaccharidosis, MPS-IV-B [RCV001935176]	pathogenic	3	33018458	33018459	Human	1	name
151794310	CV1500261	single nucleotide variant	NM_000404.4(GLB1):c.956G>A (p.Gly319Glu)	Mucopolysaccharidosis, MPS-IV-B [RCV001910040]	uncertain significance	3	33046232	33046232	Human	1	name
151825695	CV1503667	single nucleotide variant	NM_000404.4(GLB1):c.451G>A (p.Asp151Asn)	Mucopolysaccharidosis, MPS-IV-B [RCV001973484]	likely pathogenic	3	33068236	33068236	Human	1	name
151716071	CV1504264	single nucleotide variant	NM_000404.4(GLB1):c.712A>G (p.Thr238Ala)	Mucopolysaccharidosis, MPS-IV-B [RCV002022369]	uncertain significance	3	33058110	33058110	Human	1	name
8595217	CV15964	single nucleotide variant	NM_000404.4(GLB1):c.601C>T (p.Arg201Cys)	GLB1-related disorder [RCV004737133]\|GM1 gangliosidosis [RCV000269582]\|GM1 gangliosidosis type 2 [RCV000000973]\|GM1 gangliosidosis type 2 [RCV005024979]\|GM1 gangliosidosis type 3 [RCV000410436]\|Infantile GM1 gangliosidosis [RCV000411359]\|Mucopolysaccharidosis, M ... (more) PS-IV-B [RCV000411949]\|Mucopolysaccharidosis, MPS-IV-B [RCV001208622]\|not provided [RCV000256168]	pathogenic\|likely pathogenic\|uncertain significance	3	33058221	33058221	Human	5	name , alternate_id
8595219	CV15967	single nucleotide variant	NM_000404.4(GLB1):c.367G>A (p.Gly123Arg)	Infantile GM1 gangliosidosis [RCV000000976]\|Mucopolysaccharidosis, MPS-IV-B [RCV001217770]\|Mucopolysaccharidosis, MPS-IV-B [RCV004799724]\|not provided [RCV000428850]	pathogenic\|likely pathogenic	3	33068849	33068849	Human	2	name , alternate_id
8595220	CV15968	single nucleotide variant	NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys)	GM1 gangliosidosis type 2 [RCV000673295]\|Infantile GM1 gangliosidosis [RCV000000977]	pathogenic\|likely pathogenic	3	33051766	33051766	Human	2	name , alternate_id
8595222	CV15970	single nucleotide variant	NM_000404.4(GLB1):c.818G>T (p.Trp273Leu)	Infantile GM1 gangliosidosis [RCV004566665]\|Mucopolysaccharidosis, MPS-IV-B [RCV000000979]	pathogenic\|likely pathogenic	3	33051979	33051979	Human	2	name , alternate_id
8595227	CV15978	single nucleotide variant	NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)	GM1 gangliosidosis [RCV000586182]\|GM1 gangliosidosis type 2 [RCV000984269]\|GM1 gangliosidosis type 2 [RCV005024980]\|GM1 gangliosidosis type 3 [RCV000984270]\|Inborn genetic diseases [RCV002512629]\|Infantile GM1 gangliosidosis [RCV000000988]\|Mucopolysaccharidosis, MPS-IV-B [RCV000633470]\|Mucopolysacch ... (more) aridosis, MPS-IV-B [RCV000984271]\|not provided [RCV000179306]	pathogenic	3	33058200	33058200	Human	6	name , alternate_id
153303511	CV1686301	single nucleotide variant	NM_000404.4(GLB1):c.944C>A (p.Ala315Asp)	Inborn genetic diseases [RCV003095896]\|Mucopolysaccharidosis, MPS-IV-B [RCV003095895]\|not provided [RCV002261734]	uncertain significance	3	33051769	33051769	Human	2	name
153303512	CV1686302	single nucleotide variant	NM_000404.4(GLB1):c.377T>C (p.Ile126Thr)	not provided [RCV002261735]	uncertain significance	3	33068839	33068839	Human		name
153345836	CV1691466	single nucleotide variant	NM_000404.4(GLB1):c.390G>A (p.Trp130Ter)	GM1 gangliosidosis [RCV002272949]	pathogenic	3	33068826	33068826	Human	1	name
153346594	CV1691877	duplication	NM_000404.4(GLB1):c.2010dup (p.Asp671fs)	Infantile GM1 gangliosidosis [RCV002273360]	uncertain significance	3	32997068	32997069	Human	1	name , alternate_id
155644270	CV1708527	single nucleotide variant	NM_000404.4(GLB1):c.569G>T (p.Gly190Val)	Infantile GM1 gangliosidosis [RCV002291070]	likely pathogenic	3	33058253	33058253	Human	1	name , alternate_id
9692974	CV177089	single nucleotide variant	NM_000404.4(GLB1):c.901G>A (p.Ala301Thr)	not provided [RCV000180156]	likely pathogenic	3	33051896	33051896	Human		name
155671985	CV1773961	single nucleotide variant	NM_000404.4(GLB1):c.838C>G (p.Pro280Ala)	Mucopolysaccharidosis, MPS-IV-B [RCV002297532]	uncertain significance	3	33051959	33051959	Human	1	name
9692972	CV177750	deletion	NM_000404.4(GLB1):c.1077del (p.Val360fs)	GM1 gangliosidosis [RCV002470776]\|Infantile GM1 gangliosidosis [RCV002291499]\|Mucopolysaccharidosis, MPS-IV-B [RCV001035980]\|Mucopolysaccharidosis, MPS-IV-B [RCV001192990]\|not provided [RCV000173999]	pathogenic	3	33024317	33024317	Human	3	name , alternate_id
155949268	CV1869358	single nucleotide variant	NM_000404.4(GLB1):c.467C>T (p.Ala156Val)	Mucopolysaccharidosis, MPS-IV-B [RCV003074048]	uncertain significance	3	33065548	33065548	Human	1	name
156387666	CV1875684	single nucleotide variant	NM_000404.4(GLB1):c.581C>T (p.Ala194Val)	Mucopolysaccharidosis, MPS-IV-B [RCV003050999]	uncertain significance	3	33058241	33058241	Human	1	name
156289635	CV1881717	single nucleotide variant	NM_000404.4(GLB1):c.938A>G (p.Asn313Ser)	Mucopolysaccharidosis, MPS-IV-B [RCV003061397]	pathogenic	3	33051775	33051775	Human	1	name
156048143	CV1884224	single nucleotide variant	NM_000404.4(GLB1):c.838C>T (p.Pro280Ser)	Mucopolysaccharidosis, MPS-IV-B [RCV003078771]	uncertain significance	3	33051959	33051959	Human	1	name
156352379	CV1893280	single nucleotide variant	NM_000404.4(GLB1):c.482G>A (p.Trp161Ter)	Mucopolysaccharidosis, MPS-IV-B [RCV003091081]	pathogenic	3	33065533	33065533	Human	1	name
156399770	CV1897479	single nucleotide variant	NM_000404.4(GLB1):c.842A>G (p.His281Arg)	Mucopolysaccharidosis, MPS-IV-B [RCV002584751]\|not specified [RCV005406592]	likely pathogenic\|uncertain significance	3	33051955	33051955	Human	1	name
156134870	CV1905659	single nucleotide variant	NM_000404.4(GLB1):c.617G>A (p.Arg206His)	Mucopolysaccharidosis, MPS-IV-B [RCV003081976]	uncertain significance	3	33058205	33058205	Human	1	name
156361204	CV1925546	single nucleotide variant	NM_000404.4(GLB1):c.785G>T (p.Gly262Val)	Mucopolysaccharidosis, MPS-IV-B [RCV002651651]	pathogenic	3	33053498	33053498	Human	1	name
156361219	CV1925547	single nucleotide variant	NM_000404.4(GLB1):c.785G>A (p.Gly262Glu)	GM1 gangliosidosis [RCV005239709]\|Mucopolysaccharidosis, MPS-IV-B [RCV002651652]	pathogenic\|likely pathogenic	3	33053498	33053498	Human	2	name
156162395	CV1925548	single nucleotide variant	NM_000404.4(GLB1):c.304C>G (p.His102Asp)	Mucopolysaccharidosis, MPS-IV-B [RCV002664299]	pathogenic	3	33068912	33068912	Human	1	name
156380035	CV1927466	single nucleotide variant	NM_000404.4(GLB1):c.895C>T (p.Arg299Cys)	Mucopolysaccharidosis, MPS-IV-B [RCV002634196]\|not provided [RCV004695318]	uncertain significance	3	33051902	33051902	Human	1	name
156311474	CV1934309	single nucleotide variant	NM_000404.4(GLB1):c.326G>A (p.Arg109Gln)	Mucopolysaccharidosis, MPS-IV-B [RCV002629797]	uncertain significance	3	33068890	33068890	Human	1	name
156437339	CV1937479	single nucleotide variant	NM_000404.4(GLB1):c.592G>C (p.Asp198His)	Mucopolysaccharidosis, MPS-IV-B [RCV003106873]	uncertain significance	3	33058230	33058230	Human	1	name
10048960	CV195238	single nucleotide variant	NM_000404.4(GLB1):c.602G>A (p.Arg201His)	GM1 gangliosidosis [RCV000309607]\|GM1 gangliosidosis type 2 [RCV000995553]\|GM1 gangliosidosis type 2 [RCV002500509]\|Infantile GM1 gangliosidosis [RCV002286710]\|Mucopolysaccharidosis, MPS-IV-B [RCV000665698]\|Mucopolysaccharidosis, MPS-IV-B [RCV000818052]\|not provided [RCV000255006]	pathogenic\|likely pathogenic	3	33058220	33058220	Human	4	name , alternate_id
10049153	CV195887	single nucleotide variant	NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)	Mucopolysaccharidosis, MPS-IV-B [RCV001852241]\|not provided [RCV000180154]\|not specified [RCV003155108]	likely pathogenic\|uncertain significance	3	33051988	33051988	Human	1	name
10053168	CV195888	single nucleotide variant	NM_000404.4(GLB1):c.809A>C (p.Tyr270Ser)	not provided [RCV000180159]	uncertain significance	3	33051988	33051988	Human		name
156419993	CV1979331	single nucleotide variant	NM_000404.4(GLB1):c.915G>C (p.Leu305Phe)	Mucopolysaccharidosis, MPS-IV-B [RCV002613242]	uncertain significance	3	33051798	33051798	Human	1	name
10056022	CV198618	duplication	NM_000404.4(GLB1):c.1577dup (p.Trp527fs)	GLB1-related disorder [RCV004528961]\|GM1 gangliosidosis [RCV001260322]\|GM1 gangliosidosis type 2 [RCV000987139]\|GM1 gangliosidosis type 2 [RCV005025294]\|GM1 gangliosidosis type 3 [RCV003137707]\|Infantile GM1 gangliosidosis [RCV000184037]\|Mucopolysaccharidosis, M ... (more) PS-IV-B [RCV000798976]\|not provided [RCV000627406]	pathogenic\|likely pathogenic\|not provided	3	33014212	33014213	Human	5	name , alternate_id
156385681	CV1998047	single nucleotide variant	NM_000404.4(GLB1):c.905G>A (p.Ser302Asn)	Mucopolysaccharidosis, MPS-IV-B [RCV002653974]	uncertain significance	3	33051892	33051892	Human	1	name
156138006	CV2006474	single nucleotide variant	NM_000404.4(GLB1):c.357C>G (p.Ile119Met)	Mucopolysaccharidosis, MPS-IV-B [RCV002663463]	uncertain significance	3	33068859	33068859	Human	1	name
155907954	CV2017422	single nucleotide variant	NM_000404.4(GLB1):c.937A>G (p.Asn313Asp)	Mucopolysaccharidosis, MPS-IV-B [RCV002681511]	likely pathogenic	3	33051776	33051776	Human	1	name
156059704	CV2034463	single nucleotide variant	NM_000404.4(GLB1):c.905G>C (p.Ser302Thr)	Mucopolysaccharidosis, MPS-IV-B [RCV002736794]	uncertain significance	3	33051892	33051892	Human	1	name
155933020	CV2035185	single nucleotide variant	NM_000404.4(GLB1):c.670C>G (p.His224Asp)	Mucopolysaccharidosis, MPS-IV-B [RCV002751266]	uncertain significance	3	33058152	33058152	Human	1	name
156336988	CV2057822	single nucleotide variant	NM_000404.4(GLB1):c.837A>C (p.Gln279His)	Mucopolysaccharidosis, MPS-IV-B [RCV002810993]	uncertain significance	3	33051960	33051960	Human	1	name
156322580	CV2067708	single nucleotide variant	NM_000404.4(GLB1):c.806T>C (p.Phe269Ser)	Mucopolysaccharidosis, MPS-IV-B [RCV002834805]	uncertain significance	3	33051991	33051991	Human	1	name
156218612	CV2087470	duplication	NM_000404.4(GLB1):c.1654dup (p.Tyr552fs)	Mucopolysaccharidosis, MPS-IV-B [RCV002875777]	pathogenic	3	33014135	33014136	Human	1	name
156340205	CV2106929	single nucleotide variant	NM_000404.4(GLB1):c.623G>T (p.Arg208Leu)	Mucopolysaccharidosis, MPS-IV-B [RCV002938855]	uncertain significance	3	33058199	33058199	Human	1	name
156321161	CV2112028	deletion	NM_000404.4(GLB1):c.1417del (p.Leu473fs)	Mucopolysaccharidosis, MPS-IV-B [RCV002937759]	pathogenic	3	33016771	33016771	Human	1	name
156036679	CV2143240	single nucleotide variant	NM_000404.4(GLB1):c.697C>A (p.Leu233Met)	Mucopolysaccharidosis, MPS-IV-B [RCV002999358]	uncertain significance	3	33058125	33058125	Human	1	name
155960650	CV2144211	single nucleotide variant	NM_000404.4(GLB1):c.911A>G (p.Asn304Ser)	Mucopolysaccharidosis, MPS-IV-B [RCV003015447]	uncertain significance	3	33051886	33051886	Human	1	name
156178633	CV2144935	single nucleotide variant	NM_000404.4(GLB1):c.802G>C (p.Glu268Gln)	Mucopolysaccharidosis, MPS-IV-B [RCV003005635]	pathogenic	3	33051995	33051995	Human	1	name
156309498	CV2150192	single nucleotide variant	NM_000404.4(GLB1):c.454C>A (p.Pro152Thr)	Mucopolysaccharidosis, MPS-IV-B [RCV003028494]	uncertain significance	3	33068233	33068233	Human	1	name
156372063	CV2174686	single nucleotide variant	NM_000404.4(GLB1):c.331G>A (p.Ala111Thr)	Mucopolysaccharidosis, MPS-IV-B [RCV003049785]	uncertain significance	3	33068885	33068885	Human	1	name
156338893	CV2179605	single nucleotide variant	NM_000404.4(GLB1):c.932G>A (p.Gly311Glu)	Mucopolysaccharidosis, MPS-IV-B [RCV003030175]	likely pathogenic	3	33051781	33051781	Human	1	name
156040838	CV2187915	single nucleotide variant	NM_000404.4(GLB1):c.774T>A (p.Cys258Ter)	Mucopolysaccharidosis, MPS-IV-B [RCV003036562]	pathogenic	3	33053509	33053509	Human	1	name
156434510	CV2402969	single nucleotide variant	NM_000404.4(GLB1):c.713C>T (p.Thr238Ile)	GM1 gangliosidosis type 2 [RCV003126397]	uncertain significance	3	33058109	33058109	Human	1	name
11545225	CV251093	single nucleotide variant	NM_000404.4(GLB1):c.915G>T (p.Leu305Phe)	not specified [RCV000244846]	likely benign	3	33051798	33051798	Human		name
11560287	CV259759	single nucleotide variant	NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)	GM1 gangliosidosis type 2 [RCV000665871]\|Infantile GM1 gangliosidosis [RCV001175291]\|Mucopolysaccharidosis, MPS-IV-B [RCV000809706]\|Mucopolysaccharidosis, MPS-IV-B [RCV000984003]\|not provided [RCV000256106]	pathogenic\|likely pathogenic\|not provided	3	33065551	33065551	Human	3	name , alternate_id
11641469	CV265262	single nucleotide variant	NM_000404.4(GLB1):c.385G>A (p.Glu129Lys)	not provided [RCV000357258]	uncertain significance	3	33068831	33068831	Human		name
401719751	CV2672012	single nucleotide variant	NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)	Infantile GM1 gangliosidosis [RCV003238167]\|Mucopolysaccharidosis, MPS-IV-B [RCV003779865]	pathogenic	3	33058260	33058260	Human	2	name , alternate_id
11637557	CV268408	single nucleotide variant	NM_000404.4(GLB1):c.647T>C (p.Val216Ala)	not provided [RCV000288015]	uncertain significance	3	33058175	33058175	Human		name
11580888	CV268409	single nucleotide variant	NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)	GLB1-related disorder [RCV004545765]\|GM1 gangliosidosis type 2 [RCV000666452]\|Inborn genetic diseases [RCV000623067]\|Mucopolysaccharidosis, MPS-IV-B [RCV000689244]\|Mucopolysaccharidosis, MPS-IV-B [RCV000780303]\|not provided [RCV000394616]	pathogenic\|likely pathogenic\|not provided	3	33051989	33051989	Human	6	name , alternate_id
401855768	CV2753134	single nucleotide variant	NM_000404.4(GLB1):c.739A>G (p.Asn247Asp)	Infantile GM1 gangliosidosis [RCV003338190]	uncertain significance	3	33053544	33053544	Human	1	name , alternate_id
401917153	CV2829690	single nucleotide variant	NM_000404.4(GLB1):c.825T>A (p.Asp275Glu)	not provided [RCV003443734]	uncertain significance	3	33051972	33051972	Human		name
11648281	CV290020	single nucleotide variant	NM_000404.4(GLB1):c.376A>G (p.Ile126Val)	GM1 gangliosidosis [RCV000387505]\|Mucopolysaccharidosis, MPS-IV-B [RCV000281036]\|Mucopolysaccharidosis, MPS-IV-B [RCV000809497]	uncertain significance	3	33068840	33068840	Human	2	name
402525151	CV3086752	single nucleotide variant	NM_000404.4(GLB1):c.710A>G (p.Tyr237Cys)	GM1 gangliosidosis type 2 [RCV005030265]\|Mucopolysaccharidosis, MPS-IV-B [RCV003781369]	pathogenic\|likely pathogenic	3	33058112	33058112	Human	2	name , alternate_id
402524723	CV3086753	single nucleotide variant	NM_000404.4(GLB1):c.550C>T (p.Gln184Ter)	Mucopolysaccharidosis, MPS-IV-B [RCV003781370]	pathogenic	3	33065465	33065465	Human	1	name
404991203	CV3091280	single nucleotide variant	NM_000404.4(GLB1):c.517C>T (p.Leu173Phe)	Mucopolysaccharidosis, MPS-IV-B [RCV003792753]	likely pathogenic	3	33065498	33065498	Human	1	name
405001254	CV3095470	single nucleotide variant	NM_000404.4(GLB1):c.443G>T (p.Arg148Leu)	Mucopolysaccharidosis, MPS-IV-B [RCV003793773]\|not specified [RCV004767466]	likely pathogenic\|uncertain significance	3	33068244	33068244	Human	1	name
405047645	CV3097422	deletion	NM_000404.4(GLB1):c.1577del (p.Gly526fs)	Mucopolysaccharidosis, MPS-IV-B [RCV003808002]	pathogenic	3	33014213	33014213	Human	1	name
405028529	CV3098176	single nucleotide variant	NM_000404.4(GLB1):c.765G>T (p.Gln255His)	Mucopolysaccharidosis, MPS-IV-B [RCV003806469]	likely pathogenic	3	33053518	33053518	Human	1	name
405178400	CV3101556	single nucleotide variant	NM_000404.4(GLB1):c.572G>C (p.Ser191Thr)	Mucopolysaccharidosis, MPS-IV-B [RCV003803769]\|not specified [RCV005407256]	likely pathogenic\|uncertain significance	3	33058250	33058250	Human	1	name
405109751	CV3112559	deletion	NM_000404.4(GLB1):c.1583del (p.Gly528fs)	Mucopolysaccharidosis, MPS-IV-B [RCV003813402]	pathogenic	3	33014207	33014207	Human	1	name
405043611	CV3112933	single nucleotide variant	NM_000404.4(GLB1):c.520T>G (p.Tyr174Asp)	Mucopolysaccharidosis, MPS-IV-B [RCV003807600]	likely pathogenic	3	33065495	33065495	Human	1	name
405106640	CV3113664	single nucleotide variant	NM_000404.4(GLB1):c.572G>T (p.Ser191Ile)	Mucopolysaccharidosis, MPS-IV-B [RCV003812786]	likely pathogenic	3	33058250	33058250	Human	1	name
405012751	CV3114187	single nucleotide variant	NM_000404.4(GLB1):c.971A>C (p.Tyr324Ser)	Mucopolysaccharidosis, MPS-IV-B [RCV003805041]	likely pathogenic	3	33046217	33046217	Human	1	name
407428600	CV3410292	single nucleotide variant	NM_000404.4(GLB1):c.998A>T (p.Tyr333Phe)	not specified [RCV004587899]	uncertain significance	3	33046190	33046190	Human		name
407573331	CV3499133	single nucleotide variant	NM_000404.4(GLB1):c.887T>C (p.Ile296Thr)	not specified [RCV004700105]	uncertain significance	3	33051910	33051910	Human		name
12742249	CV359418	single nucleotide variant	NM_000404.4(GLB1):c.841C>T (p.His281Tyr)	GLB1-related disorder [RCV004737460]\|Mucopolysaccharidosis, MPS-IV-B [RCV000662341]\|Mucopolysaccharidosis, MPS-IV-B [RCV000805468]\|Mucopolysaccharidosis, MPS-IV-B [RCV005410898]\|not provided [RCV000413217]	pathogenic\|likely pathogenic\|not provided	3	33051956	33051956	Human	3	name , alternate_id
12848811	CV368399	single nucleotide variant	NM_000404.4(GLB1):c.902C>T (p.Ala301Val)	GLB1-related disorder [RCV004532999]\|GM1 gangliosidosis [RCV003330669]\|Mucopolysaccharidosis, MPS-IV-B [RCV000670128]\|Mucopolysaccharidosis, MPS-IV-B [RCV001244569]\|not provided [RCV000418628]	pathogenic\|likely pathogenic	3	33051895	33051895	Human	2	name
597638082	CV3717459	deletion	NM_000404.4(GLB1):c.1242del (p.Phe415fs)	GM1 gangliosidosis type 2 [RCV005024593]	likely pathogenic	3	33018553	33018553	Human	1	name , alternate_id
597638111	CV3717465	single nucleotide variant	NM_000404.4(GLB1):c.462C>G (p.Tyr154Ter)	GM1 gangliosidosis type 2 [RCV005024598]	likely pathogenic	3	33065553	33065553	Human	1	name , alternate_id
597655593	CV3731497	single nucleotide variant	NM_000404.4(GLB1):c.376A>C (p.Ile126Leu)	not provided [RCV005001678]	uncertain significance	3	33068840	33068840	Human		name
597852827	CV3870119	single nucleotide variant	NM_000404.4(GLB1):c.718G>A (p.Val240Met)	Mucopolysaccharidosis, MPS-IV-B [RCV005228511]	pathogenic	3	33058104	33058104	Human	1	name
597852835	CV3870120	single nucleotide variant	NM_000404.4(GLB1):c.452A>T (p.Asp151Val)	Mucopolysaccharidosis, MPS-IV-B [RCV005228512]	pathogenic	3	33068235	33068235	Human	1	name
597852845	CV3870121	single nucleotide variant	NM_000404.4(GLB1):c.400G>A (p.Gly134Arg)	Mucopolysaccharidosis, MPS-IV-B [RCV005228513]	pathogenic	3	33068287	33068287	Human	1	name
597835679	CV3874256	single nucleotide variant	NM_000404.4(GLB1):c.668C>G (p.Ala223Gly)	Mucopolysaccharidosis, MPS-IV-B [RCV005210176]	uncertain significance	3	33058154	33058154	Human	1	name
597925098	CV3877401	single nucleotide variant	NM_000404.4(GLB1):c.835C>T (p.Gln279Ter)	Mucopolysaccharidosis, MPS-IV-B [RCV005224097]	pathogenic	3	33051962	33051962	Human	1	name
597841694	CV3878122	single nucleotide variant	NM_000404.4(GLB1):c.521A>G (p.Tyr174Cys)	Mucopolysaccharidosis, MPS-IV-B [RCV005226609]	likely pathogenic	3	33065494	33065494	Human	1	name
598125945	CV3883368	single nucleotide variant	NM_000404.4(GLB1):c.859G>T (p.Glu287Ter)	GM1 gangliosidosis type 2 [RCV005233239]	likely pathogenic	3	33051938	33051938	Human	1	name
598126004	CV3883413	single nucleotide variant	NM_000404.4(GLB1):c.890T>G (p.Leu297Arg)	Infantile GM1 gangliosidosis [RCV005233282]	not provided	3	33051907	33051907	Human		name , alternate_id
598122711	CV3884643	single nucleotide variant	NM_000404.4(GLB1):c.391G>A (p.Glu131Lys)	not specified [RCV005237335]	uncertain significance	3	33068825	33068825	Human		name
598123014	CV3884657	single nucleotide variant	NM_000404.4(GLB1):c.363G>T (p.Arg121Ser)	not specified [RCV005238263]	uncertain significance	3	33068853	33068853	Human		name
598124943	CV3885487	single nucleotide variant	NM_000404.4(GLB1):c.787C>T (p.Pro263Ser)	GM1 gangliosidosis [RCV005240065]	likely pathogenic	3	33053496	33053496	Human	1	name
598122483	CV3889887	single nucleotide variant	NM_000404.4(GLB1):c.326G>C (p.Arg109Pro)	Infantile GM1 gangliosidosis [RCV005247990]	uncertain significance	3	33068890	33068890	Human	1	name , alternate_id
617151852	CV4018194	single nucleotide variant	NM_000404.4(GLB1):c.819G>T (p.Trp273Cys)	not specified [RCV005418454]	uncertain significance	3	33051978	33051978	Human		name
617153385	CV4018549	single nucleotide variant	NM_000404.4(GLB1):c.520T>C (p.Tyr174His)	Mucopolysaccharidosis, MPS-IV-B [RCV005418810]	likely pathogenic	3	33065495	33065495	Human	1	name
13527921	CV513262	single nucleotide variant	NM_000404.4(GLB1):c.439C>T (p.Leu147Phe)	Infantile GM1 gangliosidosis [RCV000625810]\|Mucopolysaccharidosis, MPS-IV-B [RCV002295308]	likely pathogenic\|uncertain significance	3	33068248	33068248	Human	2	name , alternate_id
13528663	CV513535	single nucleotide variant	NM_000404.4(GLB1):c.443G>A (p.Arg148His)	GM1 gangliosidosis type 2 [RCV000763097]\|Mucopolysaccharidosis, MPS-IV-B [RCV000626074]\|Mucopolysaccharidosis, MPS-IV-B [RCV001855325]	pathogenic\|likely pathogenic	3	33068244	33068244	Human	2	name , alternate_id
13789429	CV542929	deletion	NM_000404.4(GLB1):c.1991del (p.Pro664fs)	GM1 gangliosidosis type 2 [RCV000665992]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	32997088	32997088	Human	1	name , alternate_id
13784339	CV542939	single nucleotide variant	NM_000404.4(GLB1):c.797A>G (p.Asn266Ser)	GM1 gangliosidosis type 2 [RCV000670767]	uncertain significance	3	33052000	33052000	Human	1	name , alternate_id
13786941	CV542944	single nucleotide variant	NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)	GM1 gangliosidosis type 2 [RCV000664551]\|Mucopolysaccharidosis, MPS-IV-B [RCV002530631]	pathogenic\|uncertain significance	3	33058250	33058250	Human	2	name , alternate_id
13785542	CV542960	single nucleotide variant	NM_000404.4(GLB1):c.401G>T (p.Gly134Val)	GM1 gangliosidosis type 2 [RCV000672112]\|Mucopolysaccharidosis, MPS-IV-B [RCV002531304]	pathogenic\|uncertain significance	3	33068286	33068286	Human	2	name , alternate_id
13788011	CV543109	duplication	NM_000404.4(GLB1):c.1634dup (p.Asn545fs)	GM1 gangliosidosis type 2 [RCV000665150]\|Mucopolysaccharidosis, MPS-IV-B [RCV001380450]	pathogenic\|likely pathogenic	3	33014155	33014156	Human	2	name , alternate_id
13787134	CV543156	deletion	NM_000404.4(GLB1):c.2011del (p.Asp671fs)	GM1 gangliosidosis type 2 [RCV000673292]	uncertain significance	3	32997068	32997068	Human	1	name , alternate_id
13784107	CV543192	single nucleotide variant	NM_000404.4(GLB1):c.765G>C (p.Gln255His)	GM1 gangliosidosis type 2 [RCV000670551]\|Mucopolysaccharidosis, MPS-IV-B [RCV003767987]	likely pathogenic	3	33053518	33053518	Human	2	name , alternate_id
13790933	CV543207	single nucleotide variant	NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)	GLB1-related disorder [RCV004533467]\|GM1 gangliosidosis [RCV001175301]\|GM1 gangliosidosis type 2 [RCV000666897]\|Mucopolysaccharidosis, MPS-IV-B [RCV000780304]\|Mucopolysaccharidosis, MPS-IV-B [RCV001055679]\|not provided [RCV000727559]	pathogenic\|likely pathogenic\|not provided	3	33068245	33068245	Human	5	name , alternate_id
13786267	CV543219	single nucleotide variant	NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)	GM1 gangliosidosis type 2 [RCV000672690]\|Mucopolysaccharidosis, MPS-IV-B [RCV003767999]	likely pathogenic\|uncertain significance	3	33046217	33046217	Human	2	name , alternate_id
13789910	CV543222	single nucleotide variant	NM_000404.4(GLB1):c.523C>T (p.Gln175Ter)	GM1 gangliosidosis type 2 [RCV000666243]	likely pathogenic	3	33065492	33065492	Human	1	name , alternate_id
13792350	CV543223	single nucleotide variant	NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)	GM1 gangliosidosis type 2 [RCV000668601]\|GM1 gangliosidosis type 2 [RCV000679994]\|Mucopolysaccharidosis, MPS-IV-B [RCV001228044]\|Mucopolysaccharidosis, MPS-IV-B [RCV005407863]	pathogenic\|uncertain significance\|no classifications from unflagged records	3	33068241	33068241	Human	2	name , alternate_id
13786569	CV543242	single nucleotide variant	NM_000404.4(GLB1):c.395T>C (p.Met132Thr)	GM1 gangliosidosis type 2 [RCV000672923]\|Infantile GM1 gangliosidosis [RCV002249399]\|Mucopolysaccharidosis, MPS-IV-B [RCV001731879]	pathogenic\|likely pathogenic\|uncertain significance	3	33068821	33068821	Human	3	name , alternate_id
13784343	CV543243	single nucleotide variant	NM_000404.4(GLB1):c.335A>C (p.His112Pro)	GM1 gangliosidosis [RCV005056415]\|GM1 gangliosidosis type 2 [RCV000670769]\|Mucopolysaccharidosis, MPS-IV-B [RCV002531261]	pathogenic\|likely pathogenic\|uncertain significance	3	33068881	33068881	Human	3	name , alternate_id
13794640	CV553376	single nucleotide variant	NM_000404.4(GLB1):c.623G>A (p.Arg208His)	GM1 gangliosidosis [RCV001148903]\|Mucopolysaccharidosis, MPS-IV-B [RCV000876207]\|Mucopolysaccharidosis, MPS-IV-B [RCV001145887]\|not provided [RCV001354677]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	33058199	33058199	Human	2	name
13832118	CV582609	deletion	NM_000404.4(GLB1):c.1191del (p.Ile398fs)	Mucopolysaccharidosis, MPS-IV-B [RCV001868921]\|not provided [RCV000722801]	pathogenic\|uncertain significance	3	33021608	33021608	Human	1	name
14706643	CV631175	single nucleotide variant	NM_000404.4(GLB1):c.967C>G (p.Pro323Ala)	GM1 gangliosidosis [RCV001175295]\|Mucopolysaccharidosis, MPS-IV-B [RCV000792063]	uncertain significance\|not provided	3	33046221	33046221	Human	2	name
14738330	CV631176	single nucleotide variant	NM_000404.4(GLB1):c.827A>C (p.His276Pro)	Mucopolysaccharidosis, MPS-IV-B [RCV000820882]	likely pathogenic\|uncertain significance	3	33051970	33051970	Human	1	name
14728802	CV631177	single nucleotide variant	NM_000404.4(GLB1):c.434T>C (p.Ile145Thr)	Mucopolysaccharidosis, MPS-IV-B [RCV000816698]	uncertain significance	3	33068253	33068253	Human	1	name
14978001	CV677122	single nucleotide variant	NM_000404.4(GLB1):c.545C>G (p.Thr182Arg)	Infantile GM1 gangliosidosis [RCV000850228]	uncertain significance	3	33065470	33065470	Human	1	name , alternate_id
21068937	CV788764	single nucleotide variant	NM_000404.4(GLB1):c.950G>A (p.Trp317Ter)	Infantile GM1 gangliosidosis [RCV000985131]	likely pathogenic	3	33051763	33051763	Human	1	name , alternate_id
21069734	CV789350	single nucleotide variant	NM_000404.4(GLB1):c.385G>C (p.Glu129Gln)	Infantile GM1 gangliosidosis [RCV000984877]	likely pathogenic	3	33068831	33068831	Human	1	name , alternate_id
8624261	CV79370	single nucleotide variant	NM_000404.4(GLB1):c.319T>C (p.Phe107Leu)	GM1 gangliosidosis [RCV004586535]\|GM1 gangliosidosis type 2 [RCV000059351]\|GM1 gangliosidosis type 2 [RCV005031548]\|Inborn genetic diseases [RCV000623339]\|Mucopolysaccharidosis, MPS-IV-B [RCV003764741]	likely pathogenic\|not provided	3	33068897	33068897	Human	4	name , alternate_id
8624262	CV79371	single nucleotide variant	NM_000404.4(GLB1):c.518T>C (p.Leu173Pro)	GM1 gangliosidosis type 2 [RCV000059352]\|GM1 gangliosidosis type 2 [RCV005031549]\|Mucopolysaccharidosis, MPS-IV-B [RCV000541694]	pathogenic\|likely pathogenic\|not provided	3	33065497	33065497	Human	2	name , alternate_id
21068512	CV795400	single nucleotide variant	NM_000404.4(GLB1):c.921G>A (p.Met307Ile)	See cases [RCV004797888]\|not provided [RCV000998015]	likely pathogenic\|uncertain significance	3	33051792	33051792	Human		name
21074787	CV798530	single nucleotide variant	NM_000404.4(GLB1):c.716C>T (p.Thr239Met)	GM1 gangliosidosis [RCV004702562]\|GM1 gangliosidosis type 2 [RCV000995552]\|GM1 gangliosidosis type 2 [RCV005036266]\|Infantile GM1 gangliosidosis [RCV001331204]\|Mucopolysaccharidosis, MPS-IV-B [RCV001378118]\|not provided [RCV002279689]	pathogenic\|likely pathogenic	3	33058106	33058106	Human	4	name , alternate_id
25321572	CV806439	single nucleotide variant	NM_000404.4(GLB1):c.407C>T (p.Pro136Leu)	Infantile GM1 gangliosidosis [RCV001009625]	likely pathogenic	3	33068280	33068280	Human	1	name , alternate_id
26920163	CV827904	single nucleotide variant	NM_000404.4(GLB1):c.931G>A (p.Gly311Arg)	GM1 gangliosidosis [RCV001175304]\|GM1 gangliosidosis type 2 [RCV005029643]\|Mucopolysaccharidosis, MPS-IV-B [RCV001059700]	pathogenic\|likely pathogenic\|not provided	3	33051782	33051782	Human	3	name , alternate_id
26923557	CV827905	single nucleotide variant	NM_000404.4(GLB1):c.875C>G (p.Ser292Cys)	Mucopolysaccharidosis, MPS-IV-B [RCV001064212]	uncertain significance	3	33051922	33051922	Human	1	name
40814817	CV861129	single nucleotide variant	NM_000404.4(GLB1):c.416T>A (p.Leu139Gln)	Infantile GM1 gangliosidosis [RCV001261541]	likely pathogenic	3	33068271	33068271	Human	1	name , alternate_id
28879143	CV888672	single nucleotide variant	NM_000404.4(GLB1):c.616C>T (p.Arg206Cys)	GM1 gangliosidosis [RCV001148905]\|Mucopolysaccharidosis, MPS-IV-B [RCV001148904]\|Mucopolysaccharidosis, MPS-IV-B [RCV002557199]	uncertain significance	3	33058206	33058206	Human	2	name
28883992	CV888673	single nucleotide variant	NM_000404.4(GLB1):c.374A>G (p.Tyr125Cys)	GM1 gangliosidosis [RCV001150421]\|Mucopolysaccharidosis, MPS-IV-B [RCV001150422]	uncertain significance	3	33068842	33068842	Human	2	name
34890961	CV904436	single nucleotide variant	NM_000404.4(GLB1):c.958G>A (p.Ala320Thr)	not provided [RCV001171832]	likely pathogenic\|uncertain significance	3	33046230	33046230	Human		name
34891810	CV906358	single nucleotide variant	NM_000404.4(GLB1):c.574T>C (p.Tyr192His)	GM1 gangliosidosis [RCV001175302]\|not specified [RCV005056990]	uncertain significance\|not provided	3	33058248	33058248	Human	1	name
34891802	CV906362	single nucleotide variant	NM_000404.4(GLB1):c.380G>A (p.Cys127Tyr)	GM1 gangliosidosis [RCV001175297]\|Mucopolysaccharidosis, MPS-IV-B [RCV005236659]	likely pathogenic\|not provided	3	33068836	33068836	Human	2	name
38468674	CV920704	single nucleotide variant	NM_000404.4(GLB1):c.977C>T (p.Ala326Val)	not provided [RCV001200665]	uncertain significance	3	33046211	33046211	Human		name
38468679	CV920705	single nucleotide variant	NM_000404.4(GLB1):c.941T>G (p.Phe314Cys)	not provided [RCV001200666]	likely pathogenic	3	33051772	33051772	Human		name
38470058	CV921461	single nucleotide variant	NM_000404.4(GLB1):c.785G>C (p.Gly262Ala)	Mucopolysaccharidosis, MPS-IV-B [RCV003770235]\|not specified [RCV001201273]	pathogenic\|uncertain significance	3	33053498	33053498	Human	1	name
38462480	CV943476	duplication	NM_000404.4(GLB1):c.1685dup (p.Asp564fs)	Mucopolysaccharidosis, MPS-IV-B [RCV001232770]	likely pathogenic	3	33014104	33014105	Human	1	name
38597539	CV963535	single nucleotide variant	NM_000404.4(GLB1):c.859G>A (p.Glu287Lys)	Intellectual disability [RCV001252006]\|Mucopolysaccharidosis, MPS-IV-B [RCV002570483]	likely benign\|uncertain significance	3	33051938	33051938	Human	3	name
38597540	CV963536	single nucleotide variant	NM_000404.4(GLB1):c.334C>T (p.His112Tyr)	Intellectual disability [RCV001252007]	likely benign	3	33068882	33068882	Human	2	name
40888728	CV971844	single nucleotide variant	NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter)	GM1 gangliosidosis type 2 [RCV001263744]	likely pathogenic	3	33051795	33051795	Human	1	name , alternate_id
40888729	CV971845	single nucleotide variant	NM_000404.4(GLB1):c.819G>A (p.Trp273Ter)	GM1 gangliosidosis type 2 [RCV001263745]\|GM1 gangliosidosis type 2 [RCV005029851]\|Mucopolysaccharidosis, MPS-IV-B [RCV002537662]	pathogenic\|likely pathogenic	3	33051978	33051978	Human	2	name , alternate_id
40888730	CV971846	single nucleotide variant	NM_000404.4(GLB1):c.775G>T (p.Glu259Ter)	GM1 gangliosidosis type 2 [RCV001263746]	likely pathogenic	3	33053508	33053508	Human	1	name , alternate_id
8639831	CV98814	single nucleotide variant	NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)	GM1 gangliosidosis [RCV000778692]\|GM1 gangliosidosis type 2 [RCV000666298]\|Infantile GM1 gangliosidosis [RCV001331203]\|Mucopolysaccharidosis, MPS-IV-B [RCV000818014]\|not provided [RCV000178094]	pathogenic\|likely pathogenic	3	33068245	33068245	Human	4	name , alternate_id
8639834	CV98817	single nucleotide variant	NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)	GM1 gangliosidosis [RCV001175293]\|GM1 gangliosidosis type 2 [RCV000673411]\|Mucopolysaccharidosis, MPS-IV-B [RCV001378119]\|not provided [RCV000078717]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	3	33065534	33065534	Human	3	name , alternate_id
11595251	CV290774	single nucleotide variant	NM_000404.4(GLB1):c.1715A>G (p.Gln572Arg)	GM1 gangliosidosis [RCV000313345]\|Mucopolysaccharidosis, MPS-IV-B [RCV000368000]\|Mucopolysaccharidosis, MPS-IV-B [RCV000876586]	likely benign\|uncertain significance	3	33014075	33014075	Human	2	name
11590709	CV294402	single nucleotide variant	NM_000404.4(GLB1):c.1529C>T (p.Thr510Met)	GM1 gangliosidosis [RCV000266743]\|Inborn genetic diseases [RCV003343791]\|Mucopolysaccharidosis, MPS-IV-B [RCV000321882]\|Mucopolysaccharidosis, MPS-IV-B [RCV001431859]	likely benign\|uncertain significance	3	33014261	33014261	Human	3	name
11598675	CV294405	single nucleotide variant	NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)	GM1 gangliosidosis [RCV000292413]\|GM1 gangliosidosis type 2 [RCV001775114]\|GM1 gangliosidosis type 2 [RCV005027449]\|Infantile GM1 gangliosidosis [RCV001584055]\|Mucopolysaccharidosis, MPS-IV-B [RCV000675170]\|Mucopolysaccharidosis, MPS-IV-B [RCV001382666]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	3	33018452	33018452	Human	4	name , alternate_id
127266794	CV1059730	single nucleotide variant	NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter)	GM1 gangliosidosis type 2 [RCV005023134]\|Mucopolysaccharidosis, MPS-IV-B [RCV001381783]	pathogenic\|likely pathogenic	3	33018471	33018471	Human	2	alternate_id
8555131	CV106591	deletion	NM_000404.2:c.672_673delAT	Infantile GM1 gangliosidosis [RCV000087092]	pathogenic				Human	1	alternate_id
150429572	CV1189285	single nucleotide variant	NM_000404.4(GLB1):c.1658T>C (p.Met553Thr)	GM1 gangliosidosis type 2 [RCV001563860]\|GM1 gangliosidosis type 3 [RCV001563861]\|Infantile GM1 gangliosidosis [RCV001563859]\|Mucopolysaccharidosis, MPS-IV-B [RCV001563862]	uncertain significance	3	33014132	33014132	Human	4	alternate_id
150451096	CV1200419	single nucleotide variant	NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln)	GM1 gangliosidosis type 2 [RCV001580719]\|GM1 gangliosidosis type 3 [RCV001580720]\|Inborn genetic diseases [RCV002573267]\|Infantile GM1 gangliosidosis [RCV001580718]\|Mucopolysaccharidosis, MPS-IV-B [RCV001580721]\|Mucopolysaccharidosis, MPS-IV-B [RCV002573266]	uncertain significance	3	32997295	32997295	Human	5	alternate_id
150436163	CV1241930	single nucleotide variant	NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)	GM1 gangliosidosis [RCV003323912]\|Infantile GM1 gangliosidosis [RCV001650518]\|Mucopolysaccharidosis, MPS-IV-B [RCV001882746]	pathogenic\|likely pathogenic	3	33046178	33046178	Human	3	alternate_id
150542348	CV1314744	microsatellite	NM_000404.4(GLB1):c.1465_1466del (p.Ile489fs)	Infantile GM1 gangliosidosis [RCV001794518]	likely pathogenic	3	33016722	33016723	Human		alternate_id
151351351	CV1323495	deletion	NM_000404.4(GLB1):c.425_428del (p.Lys142fs)	Infantile GM1 gangliosidosis [RCV001806351]\|Mucopolysaccharidosis, MPS-IV-B [RCV001869565]	pathogenic	3	33068259	33068262	Human	2	alternate_id
151351400	CV1323588	single nucleotide variant	NM_000404.4(GLB1):c.1099C>T (p.Pro367Ser)	Infantile GM1 gangliosidosis [RCV001806444]	uncertain significance	3	33024295	33024295	Human	1	alternate_id
151717644	CV1495553	single nucleotide variant	NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)	GM1 gangliosidosis type 2 [RCV002498062]\|Mucopolysaccharidosis, MPS-IV-B [RCV002026850]	likely pathogenic\|uncertain significance	3	33018539	33018539	Human	2	alternate_id
151711983	CV1501432	microsatellite	NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del)	GM1 gangliosidosis type 2 [RCV005025561]\|Mucopolysaccharidosis, MPS-IV-B [RCV002005188]	pathogenic\|likely pathogenic\|uncertain significance	3	33068247	33068249	Human		alternate_id
8595216	CV15963	single nucleotide variant	NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)	GM1 gangliosidosis [RCV001174734]\|GM1 gangliosidosis type 2 [RCV000667074]\|GM1 gangliosidosis type 2 [RCV005208117]\|Infantile GM1 gangliosidosis [RCV000000972]\|Mucopolysaccharidosis, MPS-IV-B [RCV001058421]\|not provided [RCV001781153]	pathogenic	3	33016819	33016819	Human	4	alternate_id
8595221	CV15969	single nucleotide variant	NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln)	GM1 gangliosidosis [RCV002281684]\|GM1 gangliosidosis type 2 [RCV001810396]\|GM1 gangliosidosis type 3 [RCV000000978]\|Mucopolysaccharidosis, MPS-IV-B [RCV001378633]	pathogenic\|likely pathogenic	3	33016818	33016818	Human	4	alternate_id
8595223	CV15971	single nucleotide variant	NM_000404.4(GLB1):c.1445G>A (p.Arg482His)	GM1 gangliosidosis [RCV000586055]\|GM1 gangliosidosis type 2 [RCV002476905]\|Infantile GM1 gangliosidosis [RCV000000981]\|Mucopolysaccharidosis, MPS-IV-B [RCV000119099]\|Mucopolysaccharidosis, MPS-IV-B [RCV001034863]\|not provided [RCV000174679]	pathogenic	3	33016743	33016743	Human	4	alternate_id
8555884	CV15973	duplication	NM_000404.4(GLB1):c.256_278dup (p.Gln95fs)	Infantile GM1 gangliosidosis [RCV000000983]	pathogenic	3	33068937	33068938	Human	1	alternate_id
8688721	CV15977	single nucleotide variant	NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)	GM1 gangliosidosis type 2 [RCV000665872]\|Mucopolysaccharidosis, MPS-IV-B [RCV000119100]\|Mucopolysaccharidosis, MPS-IV-B [RCV001376852]	pathogenic\|likely pathogenic\|uncertain significance	3	33016744	33016744	Human	2	alternate_id
8595228	CV15979	single nucleotide variant	NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)	GM1 gangliosidosis [RCV005237344]\|GM1 gangliosidosis type 2 [RCV000850556]\|Mucopolysaccharidosis, MPS-IV-B [RCV000000989]\|Mucopolysaccharidosis, MPS-IV-B [RCV001382999]\|Spondyloepiphyseal dysplasia [RCV001843450]\|not provided [RCV001091796]	pathogenic	3	33018482	33018482	Human	5	alternate_id
8595229	CV15980	single nucleotide variant	NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)	GM1 gangliosidosis type 2 [RCV000665526]\|GM1-gangliosidosis, type I, with cardiac involvement [RCV000000990]\|Infantile GM1 gangliosidosis [RCV001331201]\|Mucopolysaccharidosis, MPS-IV-B [RCV000780302]\|Mucopolysaccharidosis, MPS-IV-B [RCV001223149]\|Spastic ataxia [RCV001642195]\|not provided [RCV002225 ... (more) 254]	pathogenic\|likely pathogenic	3	33046137	33046137	Human	5	alternate_id
8595230	CV15981	single nucleotide variant	NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)	GM1 gangliosidosis [RCV002281685]\|GM1 gangliosidosis type 2 [RCV000673423]\|GM1 gangliosidosis type 3 [RCV003137481]\|Mucopolysaccharidosis, MPS-IV-B [RCV000000991]\|Mucopolysaccharidosis, MPS-IV-B [RCV001040694]\|not provided [RCV001818116]	pathogenic\|likely pathogenic	3	33014292	33014292	Human	4	alternate_id
8595231	CV15982	single nucleotide variant	NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro)	GM1 gangliosidosis type 2 [RCV000667601]\|Mucopolysaccharidosis, MPS-IV-B [RCV000000992]	pathogenic\|uncertain significance	3	33021576	33021576	Human	2	alternate_id
8595235	CV15987	single nucleotide variant	NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)	GM1 gangliosidosis type 2 [RCV000673090]\|GM1 gangliosidosis type 2 [RCV005252653]\|GM1-gangliosidosis, type I, with cardiac involvement [RCV000000998]\|Mucopolysaccharidosis, MPS-IV-B [RCV003764505]	pathogenic\|likely pathogenic\|uncertain significance	3	32997307	32997307	Human	3	alternate_id
152985445	CV1675146	duplication	NM_000404.4(GLB1):c.1598_1601dup (p.His534fs)	GM1 gangliosidosis type 2 [RCV005025734]\|Mucopolysaccharidosis, MPS-IV-B [RCV002240085]	pathogenic	3	33014188	33014189	Human	2	alternate_id
9688684	CV177749	single nucleotide variant	NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg)	GM1 gangliosidosis type 2 [RCV001701621]\|GM1 gangliosidosis type 3 [RCV001701622]\|Infantile GM1 gangliosidosis [RCV001527520]\|Mucopolysaccharidosis, MPS-IV-B [RCV001521989]\|Mucopolysaccharidosis, MPS-IV-B [RCV001527521]\|not provided [RCV001175292]\|not specified [RCV000153326]	benign\|not provided	3	33014229	33014229	Human	4	alternate_id
155728284	CV1782357	single nucleotide variant	NM_000404.4(GLB1):c.1122T>A (p.Tyr374Ter)	GM1 gangliosidosis type 2 [RCV002307889]	likely pathogenic	3	33024272	33024272	Human	1	alternate_id
155729599	CV1782845	deletion	NM_000404.4(GLB1):c.500_501del (p.Pro167fs)	GM1 gangliosidosis type 2 [RCV002308377]	likely pathogenic	3	33065514	33065515	Human	1	alternate_id
155735633	CV1783140	deletion	NM_000404.4(GLB1):c.487_488del (p.Gly163fs)	GM1 gangliosidosis type 2 [RCV002309297]	likely pathogenic	3	33065527	33065528	Human	1	alternate_id
155735795	CV1783239	deletion	NM_000404.4(GLB1):c.230_231del (p.Leu77fs)	GM1 gangliosidosis type 2 [RCV002309396]	likely pathogenic	3	33072558	33072559	Human	1	alternate_id
155726671	CV1783862	microsatellite	NM_000404.4(GLB1):c.1379_1380del (p.Val460fs)	GM1 gangliosidosis type 2 [RCV002307306]	likely pathogenic	3	33016808	33016809	Human		alternate_id
155737130	CV1784266	deletion	NM_000404.4(GLB1):c.1023_1024del (p.Asp342fs)	GM1 gangliosidosis type 2 [RCV002310423]	likely pathogenic	3	33046164	33046165	Human	1	alternate_id
9834717	CV180917	single nucleotide variant	NM_058216.3(RAD51C):c.746G>A (p.Arg249His)	Breast-ovarian cancer, familial, susceptibility to, 3 [RCV000663073]\|Breast-ovarian cancer, familial, susceptibility to, 3 [RCV001257495]\|Fanconi anemia complementation group O [RCV000168412]\|Hereditary cancer-predisposing syndrome [RCV000234871]\|not provided [RCV000160916]\|not specified [RCV0007817 ... (more) 89]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	58709899	58709899	Human	3	alternate_id
155911816	CV1867771	single nucleotide variant	NM_000404.4(GLB1):c.1122T>G (p.Tyr374Ter)	Infantile GM1 gangliosidosis [RCV002510243]	pathogenic	3	33024272	33024272	Human	1	alternate_id
155941064	CV1902013	single nucleotide variant	NM_000404.4(GLB1):c.1147A>T (p.Lys383Ter)	GM1 gangliosidosis type 2 [RCV005028217]\|Mucopolysaccharidosis, MPS-IV-B [RCV003073540]	pathogenic\|likely pathogenic	3	33021652	33021652	Human	2	alternate_id
10047474	CV190257	duplication	Single allele	Gangliosidosis GM1 type 3 [RCV000173123]\|Infantile GM1 gangliosidosis [RCV000173125]\|Juvenile GM>1< gangliosidosis [RCV000173124]\|Mucopolysaccharidosis, MPS-IV-B [RCV000173122]	pathogenic				Human		alternate_id
10047873	CV191495	insertion	NM_000404.3(GLB1):c.1466_1467insGGTGCATATAT (p.Ile489Metfs)	Gangliosidosis GM1 type 3 [RCV000174676]\|Infantile GM1 gangliosidosis [RCV000174678]\|Juvenile GM>1< gangliosidosis [RCV000174677]\|Mucopolysaccharidosis, MPS-IV-B [RCV000174675]	pathogenic	3	33016721	33016722	Human		alternate_id
10047950	CV191759	single nucleotide variant	NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)	GLB1-related disorder [RCV003221293]\|GM1 gangliosidosis [RCV004798797]\|Infantile GM1 gangliosidosis [RCV000175003]\|Mucopolysaccharidosis, MPS-IV-B [RCV000703485]\|Mucopolysaccharidosis, MPS-IV-B [RCV003387787]\|not provided [RCV000175004]	pathogenic	3	32997311	32997311	Human	3	alternate_id
156141744	CV1921940	single nucleotide variant	NM_000404.4(GLB1):c.2012A>G (p.Asp671Gly)	GM1 gangliosidosis type 2 [RCV004725551]\|Mucopolysaccharidosis, MPS-IV-B [RCV002623685]	likely benign\|uncertain significance	3	32997067	32997067	Human	2	alternate_id
155912499	CV1935340	single nucleotide variant	NM_000404.4(GLB1):c.1421A>G (p.Asp474Gly)	Infantile GM1 gangliosidosis [RCV002510671]	uncertain significance	3	33016767	33016767	Human	1	alternate_id
13496518	CV205010	single nucleotide variant	NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)	GM1 gangliosidosis type 2 [RCV000673241]\|Mucopolysaccharidosis, MPS-IV-B [RCV000537911]\|not provided [RCV003482247]	likely benign\|uncertain significance	3	33018510	33018510	Human	2	alternate_id
10409638	CV211787	single nucleotide variant	NM_017775.3(TTC19):c.-42G>T	not provided [RCV000196528]	pathogenic	17	15999807	15999807	Human		alternate_id
11531212	CV247388	single nucleotide variant	NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)	GM1 gangliosidosis [RCV001192992]\|GM1 gangliosidosis type 2 [RCV000239412]\|GM1 gangliosidosis type 2 [RCV000665995]\|Inborn genetic diseases [RCV002518537]\|Mucopolysaccharidosis, MPS-IV-B [RCV001061617]\|not provided [RCV001200664]	pathogenic\|likely pathogenic	3	33014057	33014057	Human	4	alternate_id
401854954	CV2752690	indel	NM_000404.4(GLB1):c.1071_1073delinsGG (p.Phe357fs)	Infantile GM1 gangliosidosis [RCV003337744]	likely pathogenic	3	33024321	33024323	Human		alternate_id
405282058	CV3224728	single nucleotide variant	NM_000404.4(GLB1):c.1027C>T (p.Leu343Phe)	Infantile GM1 gangliosidosis [RCV003989065]	uncertain significance	3	33046161	33046161	Human	1	alternate_id
407573025	CV3498802	single nucleotide variant	NM_000404.4(GLB1):c.1823T>C (p.Leu608Pro)	GM1 gangliosidosis type 2 [RCV005023646]\|Mucopolysaccharidosis, MPS-IV-B [RCV004699771]	likely pathogenic	3	32997256	32997256	Human	2	alternate_id
407573192	CV3498993	single nucleotide variant	NM_000404.4(GLB1):c.1471G>T (p.Asp491Tyr)	GM1 gangliosidosis [RCV004699962]\|GM1 gangliosidosis type 2 [RCV005023649]	likely pathogenic	3	33016717	33016717	Human	2	alternate_id
408394723	CV3522038	microsatellite	NM_000404.4(GLB1):c.515_516del (p.Leu172fs)	Infantile GM1 gangliosidosis [RCV004764831]	likely pathogenic\|uncertain significance	3	33065499	33065500	Human		alternate_id
597638077	CV3717458	single nucleotide variant	NM_000404.4(GLB1):c.1792C>T (p.Gln598Ter)	GM1 gangliosidosis type 2 [RCV005024592]	likely pathogenic	3	32997287	32997287	Human	1	alternate_id
597638095	CV3717461	deletion	NM_000404.4(GLB1):c.597_598del (p.Leu200fs)	GM1 gangliosidosis type 2 [RCV005024595]	likely pathogenic	3	33058224	33058225	Human	1	alternate_id
597638117	CV3717466	indel	NM_000404.4(GLB1):c.435_436delinsA (p.Leu146fs)	GM1 gangliosidosis type 2 [RCV005024599]	likely pathogenic	3	33068251	33068252	Human		alternate_id
598212138	CV4009011	single nucleotide variant	NM_000404.4(GLB1):c.1322A>G (p.Asp441Gly)	GM1 gangliosidosis type 2 [RCV005400624]	uncertain significance	3	33018473	33018473	Human	1	alternate_id
12907195	CV414933	single nucleotide variant	NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)	Infantile GM1 gangliosidosis [RCV002286741]\|Mucopolysaccharidosis, MPS-IV-B [RCV000666099]\|Mucopolysaccharidosis, MPS-IV-B [RCV000811767]\|not provided [RCV000490151]	pathogenic\|likely pathogenic	3	33014144	33014144	Human	2	alternate_id
13483619	CV443416	single nucleotide variant	NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)	GLB1-related disorder [RCV004537876]\|GM1 gangliosidosis type 2 [RCV000765726]\|Mucopolysaccharidosis, MPS-IV-B [RCV001079383]\|not provided [RCV000522107]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	33014202	33014202	Human	5	alternate_id
13616424	CV519256	single nucleotide variant	NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)	GLB1-related disorder [RCV004737910]\|GM1 gangliosidosis type 2 [RCV000666461]\|GM1 gangliosidosis type 2 [RCV005208144]\|Infantile GM1 gangliosidosis [RCV003338697]\|Mucopolysaccharidosis, MPS-IV-B [RCV000633471]\|not provided [RCV001568844]	pathogenic\|likely pathogenic	3	33018470	33018470	Human	5	alternate_id
13790393	CV542920	single nucleotide variant	NM_000404.4(GLB1):c.2032T>C (p.Ter678Arg)	GM1 gangliosidosis type 2 [RCV000675012]	uncertain significance	3	32997047	32997047	Human	1	alternate_id
13785783	CV542931	single nucleotide variant	NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter)	GM1 gangliosidosis type 2 [RCV000672277]\|Mucopolysaccharidosis, MPS-IV-B [RCV002531313]	pathogenic\|likely pathogenic	3	33014076	33014076	Human	2	alternate_id
13784702	CV542932	single nucleotide variant	NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys)	GM1 gangliosidosis type 2 [RCV000671173]\|Mucopolysaccharidosis, MPS-IV-B [RCV001855552]\|not specified [RCV004782504]	pathogenic\|uncertain significance	3	33016734	33016734	Human	2	alternate_id
13790479	CV542934	single nucleotide variant	NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)	GM1 gangliosidosis type 2 [RCV000666573]\|Mucopolysaccharidosis, MPS-IV-B [RCV001049111]	pathogenic\|likely pathogenic	3	33018474	33018474	Human	2	alternate_id
13790406	CV542958	deletion	NM_000404.4(GLB1):c.425_426del (p.Lys142fs)	GM1 gangliosidosis type 2 [RCV000675020]	likely pathogenic	3	33068261	33068262	Human	1	alternate_id
13787889	CV543091	single nucleotide variant	NM_000404.4(GLB1):c.2034A>C (p.Ter678Cys)	GM1 gangliosidosis type 2 [RCV000673690]	uncertain significance	3	32997045	32997045	Human	1	alternate_id
13789767	CV543093	deletion	NM_000404.4(GLB1):c.2007_2010del (p.Asn669fs)	GM1 gangliosidosis type 2 [RCV000666165]	uncertain significance	3	32997069	32997072	Human	1	alternate_id
13785027	CV543095	single nucleotide variant	NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter)	GM1 gangliosidosis type 2 [RCV000671539]	uncertain significance	3	32997101	32997101	Human	1	alternate_id
13790453	CV543098	single nucleotide variant	NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)	GM1 gangliosidosis type 2 [RCV000666546]\|Mucopolysaccharidosis, MPS-IV-B [RCV002530688]	likely pathogenic\|uncertain significance	3	32997311	32997311	Human	2	alternate_id
13787429	CV543110	single nucleotide variant	NM_000404.4(GLB1):c.1481G>T (p.Gly494Val)	GM1 gangliosidosis type 2 [RCV000664835]\|Mucopolysaccharidosis, MPS-IV-B [RCV005223104]	pathogenic\|uncertain significance	3	33014309	33014309	Human	2	alternate_id
13788660	CV543170	single nucleotide variant	NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter)	GM1 gangliosidosis type 2 [RCV000665507]\|Mucopolysaccharidosis, MPS-IV-B [RCV001868203]\|not provided [RCV001771920]	uncertain significance	3	32997077	32997077	Human	2	alternate_id
13792047	CV543173	deletion	NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs)	GM1 gangliosidosis type 2 [RCV000668225]	likely pathogenic	3	33014287	33014290	Human	1	alternate_id
13782527	CV543184	single nucleotide variant	NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)	GM1 gangliosidosis type 2 [RCV000668974]\|Mucopolysaccharidosis, MPS-IV-B [RCV001379670]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	33016736	33016736	Human	2	alternate_id
13789310	CV543186	single nucleotide variant	NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)	GM1 gangliosidosis [RCV002271564]\|GM1 gangliosidosis type 2 [RCV000674446]\|Mucopolysaccharidosis, MPS-IV-B [RCV001855609]	pathogenic\|likely pathogenic	3	33046150	33046150	Human	3	alternate_id
13787709	CV543193	single nucleotide variant	NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)	GM1 gangliosidosis type 2 [RCV000664993]\|GM1 gangliosidosis type 2 [RCV000987138]\|Inborn genetic diseases [RCV002532038]\|Mucopolysaccharidosis, MPS-IV-B [RCV001868198]\|See cases [RCV002252200]\|not specified [RCV001797774]	pathogenic\|uncertain significance	3	32997296	32997296	Human	3	alternate_id
13783253	CV543194	deletion	NM_000404.4(GLB1):c.645_648del (p.Val216fs)	GM1 gangliosidosis type 2 [RCV000669890]	likely pathogenic	3	33058174	33058177	Human	1	alternate_id
13788283	CV543198	single nucleotide variant	NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)	GM1 gangliosidosis type 2 [RCV000673883]\|Mucopolysaccharidosis, MPS-IV-B [RCV001855604]\|not provided [RCV003236832]	pathogenic\|likely pathogenic	3	32997333	32997333	Human	2	alternate_id
13791647	CV543200	single nucleotide variant	NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter)	GM1 gangliosidosis type 2 [RCV000667717]	likely pathogenic	3	33014181	33014181	Human	1	alternate_id
13784468	CV543202	insertion	NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs)	GM1 gangliosidosis type 2 [RCV000670869]\|Mucopolysaccharidosis, MPS-IV-B [RCV002531266]	pathogenic\|likely pathogenic	3	33014279	33014280	Human	2	alternate_id
13789437	CV543206	single nucleotide variant	NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn)	GM1 gangliosidosis type 2 [RCV000674513]\|Mucopolysaccharidosis, MPS-IV-B [RCV001868281]\|Mucopolysaccharidosis, MPS-IV-B [RCV002289953]	pathogenic\|uncertain significance	3	33016717	33016717	Human	2	alternate_id
13782648	CV543214	single nucleotide variant	NM_000404.4(GLB1):c.1438A>G (p.Met480Val)	GM1 gangliosidosis type 2 [RCV000669124]\|Mucopolysaccharidosis, MPS-IV-B [RCV004689842]\|not provided [RCV003238800]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	33016750	33016750	Human	2	alternate_id
13783082	CV543215	single nucleotide variant	NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)	GLB1-related disorder [RCV004535685]\|GM1 gangliosidosis [RCV001150120]\|GM1 gangliosidosis type 2 [RCV000669669]\|Mucopolysaccharidosis, MPS-IV-B [RCV000874342]\|Mucopolysaccharidosis, MPS-IV-B [RCV001150121]\|not specified [RCV002222593]	benign\|likely benign\|uncertain significance	3	33018485	33018485	Human	5	alternate_id
13789008	CV543217	single nucleotide variant	NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)	GM1 gangliosidosis type 2 [RCV000665726]\|Mucopolysaccharidosis, MPS-IV-B [RCV000821368]	pathogenic\|likely pathogenic	3	33046150	33046150	Human	2	alternate_id
13788261	CV543226	deletion	NM_000404.4(GLB1):c.433_437del (p.Ile145fs)	GM1 gangliosidosis type 2 [RCV000665277]\|Mucopolysaccharidosis, MPS-IV-B [RCV002530651]	pathogenic\|likely pathogenic	3	33068250	33068254	Human	2	alternate_id
13812163	CV559427	indel	NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)	GM1 gangliosidosis type 2 [RCV005027848]\|Infantile GM1 gangliosidosis [RCV001584562]\|Mucopolysaccharidosis, MPS-IV-B [RCV000689254]\|Mucopolysaccharidosis, MPS-IV-B [RCV000790561]\|not provided [RCV002275106]	pathogenic\|likely pathogenic\|not provided	3	33051979	33051980	Human		alternate_id
14712083	CV631174	single nucleotide variant	NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn)	Infantile GM1 gangliosidosis [RCV005208150]\|Mucopolysaccharidosis, MPS-IV-B [RCV000810175]	likely pathogenic\|uncertain significance	3	33016709	33016709	Human	2	alternate_id
14746712	CV672002	deletion	NM_000404.4(GLB1):c.495_497del (p.Leu166del)	GM1 gangliosidosis type 2 [RCV000844877]\|Infantile GM1 gangliosidosis [RCV001585790]\|Mucopolysaccharidosis, MPS-IV-B [RCV001214281]	pathogenic\|uncertain significance\|not provided	3	33065518	33065520	Human	3	alternate_id
25327475	CV815872	single nucleotide variant	NM_000404.4(GLB1):c.1318C>T (p.His440Tyr)	Infantile GM1 gangliosidosis [RCV001027535]	pathogenic	3	33018477	33018477	Human	1	alternate_id
26899023	CV827900	single nucleotide variant	NM_000404.4(GLB1):c.1787G>A (p.Gly596Asp)	GM1 gangliosidosis type 2 [RCV005029667]\|Mucopolysaccharidosis, MPS-IV-B [RCV001070830]	uncertain significance	3	32997292	32997292	Human	2	alternate_id
26888742	CV827902	microsatellite	NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs)	GM1 gangliosidosis type 2 [RCV002307662]\|Mucopolysaccharidosis, MPS-IV-B [RCV001045376]	pathogenic\|likely pathogenic	3	33018496	33018497	Human		alternate_id
26909435	CV827906	deletion	NM_000404.4(GLB1):c.531_534del (p.Gly178fs)	GM1 gangliosidosis type 2 [RCV005029586]\|Mucopolysaccharidosis, MPS-IV-B [RCV001038513]	pathogenic\|likely pathogenic	3	33065481	33065484	Human	2	alternate_id
40888727	CV971843	single nucleotide variant	NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter)	GM1 gangliosidosis type 2 [RCV001263743]	likely pathogenic	3	33018483	33018483	Human	1	alternate_id
8639817	CV98800	deletion	NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)	GM1 gangliosidosis type 2 [RCV000672348]\|Mucopolysaccharidosis, MPS-IV-B [RCV001386115]\|not provided [RCV000174243]	pathogenic\|likely pathogenic	3	33021624	33021625	Human	2	alternate_id
8639819	CV98802	single nucleotide variant	NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)	GLB1-related disorder [RCV004542751]\|GM1 gangliosidosis [RCV001150122]\|GM1 gangliosidosis type 2 [RCV000671886]\|Mucopolysaccharidosis, MPS-IV-B [RCV001150123]\|Mucopolysaccharidosis, MPS-IV-B [RCV001511461]\|not provided [RCV001573681]\|not specified [RCV000078701]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	3	33018489	33018489	Human	5	alternate_id
8639820	CV98803	single nucleotide variant	NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)	GM1 gangliosidosis type 2 [RCV000668735]\|Mucopolysaccharidosis, MPS-IV-B [RCV001854385]\|not provided [RCV000174475]	pathogenic\|likely pathogenic\|uncertain significance	3	33018485	33018485	Human	2	alternate_id
8639822	CV98805	duplication	NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)	GM1 gangliosidosis type 2 [RCV000668115]\|Mucopolysaccharidosis, MPS-IV-B [RCV003764756]\|not provided [RCV000174675]	pathogenic\|likely pathogenic	3	33016721	33016722	Human	2	alternate_id
8639823	CV98806	single nucleotide variant	NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly)	GLB1-related disorder [RCV004528281]\|GM1 gangliosidosis [RCV000355730]\|Infantile GM1 gangliosidosis [RCV001527519]\|Mucopolysaccharidosis, MPS-IV-B [RCV000260653]\|Mucopolysaccharidosis, MPS-IV-B [RCV000526685]\|not provided [RCV001175303]\|not specified [RCV0000787 ... (more) 05]	benign\|likely benign\|not provided	3	33014196	33014196	Human	3	alternate_id
8639825	CV98808	single nucleotide variant	NM_000404.4(GLB1):c.1769G>A (p.Arg590His)	GM1 gangliosidosis [RCV004526614]\|GM1 gangliosidosis type 2 [RCV001810420]\|GM1 gangliosidosis type 2 [RCV005025132]\|Infantile GM1 gangliosidosis [RCV001804833]\|Mucopolysaccharidosis, MPS-IV-B [RCV000794211]\|Progressive familial intrahepatic cholestasis [RCV004542752]\|not provided [RCV000174999]	pathogenic\|likely pathogenic\|uncertain significance	3	32997310	32997310	Human	5	alternate_id
15174625	CV777238	single nucleotide variant	NM_001286423.2(GLB1L):c.722-8T>A	not provided [RCV000950387]	benign	2	219239841	219239841	Human		name
15138834	CV779691	single nucleotide variant	NM_001370461.1(GLB1L2):c.1708-6T>G	not provided [RCV000965860]	likely benign	11	134374596	134374596	Human		name
8652798	CV129373	single nucleotide variant	NM_001080407.2(GLB1L3):c.637-1792A>G	Lung cancer [RCV000109860]	uncertain significance	11	134287006	134287006	Human		name
153347388	CV1692036	microsatellite	NM_000404.4(GLB1):c.955+142_955+143insTTTTCT	not provided [RCV002273521]	likely benign	3	33051615	33051616	Human		name
150339123	CV1167291	microsatellite	NM_000404.4(GLB1):c.955+142_955+143insTTTTCTTTT	not provided [RCV001534063]	benign	3	33051615	33051616	Human		name
12893527	CV406181	indel	NM_000404.4(GLB1):c.902_914+17delinsAGGCAAGTATATACTTGCC	not provided [RCV000479288]	likely pathogenic	3	33051866	33051895	Human		name
156193502	CV2066484	indel	NM_000404.4(GLB1):c.914+15_914+16delinsAGTGTGAACTTGTGAGTGTTT	Mucopolysaccharidosis, MPS-IV-B [RCV002828689]	uncertain significance	3	33051867	33051868	Human		name
155794450	CV1858574	insertion	NM_000404.4(GLB1):c.1068+2341_1068+2342insGCTTGGTATTTTTTCTGAGGGTATCTTTGCTTGGTATTTTTCTGAGTTAGCTTTTGCTTGTATTTTTTTTTCTGATGTACTTT	Schizophrenia [RCV002463536]	uncertain significance	3	33043778	33043779	Human	2	name

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