Gnptg Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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943 records found for search term Gnptg

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8556991	CV17833	insertion	GNPTG, 1-BP INS	Mucolipidosis type III gamma [RCV000002928]	pathogenic				Human		name
8556997	CV17839	deletion	GNPTG, 1-BP DEL, 639T	Mucolipidosis type III gamma [RCV000002934]	pathogenic				Human		name
8556995	CV17837	single nucleotide variant	GNPTG, IVS8AS, A-G, -2	Mucolipidosis type III gamma [RCV000002932]	pathogenic				Human		name
8556998	CV17840	single nucleotide variant	GNPTG, IVS8AS, G-T, -1	Mucolipidosis type III gamma [RCV000002935]	pathogenic				Human		name
40904774	CV979748	single nucleotide variant	NM_032520.5(GNPTG):c.-4C>T	GNPTG-mucolipidosis [RCV001277823]	uncertain significance	16	1351962	1351962	Human	1	name , trait
11604292	CV324096	single nucleotide variant	NM_032520.5(GNPTG):c.*27C>T	GNPTG-mucolipidosis [RCV000307750]	likely benign\|uncertain significance	16	1363118	1363118	Human	1	name , trait
11658074	CV340469	single nucleotide variant	NM_032520.4(GNPTG):c.-60C>T	GNPTG-mucolipidosis [RCV000346164]	uncertain significance	16	1351906	1351906	Human	1	name , trait
11663792	CV340471	single nucleotide variant	NM_032520.4(GNPTG):c.-42G>C	GNPTG-mucolipidosis [RCV000399367]	uncertain significance	16	1351924	1351924	Human	1	name , trait
11622642	CV340482	single nucleotide variant	NM_032520.5(GNPTG):c.*68G>T	GNPTG-mucolipidosis [RCV000362615]\|not provided [RCV003391148]	benign\|likely benign\|uncertain significance	16	1363159	1363159	Human	1	name , trait
11617717	CV341852	single nucleotide variant	NM_032520.4(GNPTG):c.-40C>A	GNPTG-mucolipidosis [RCV000307034]	uncertain significance	16	1351926	1351926	Human	1	name , trait
11665922	CV353336	single nucleotide variant	NM_032520.4(GNPTG):c.-72G>C	GNPTG-mucolipidosis [RCV000302396]\|not provided [RCV001709645]	benign\|likely benign	16	1351894	1351894	Human	1	name , trait
28885709	CV874619	single nucleotide variant	NM_032520.5(GNPTG):c.-28G>A	GNPTG-mucolipidosis [RCV001119135]	uncertain significance	16	1351938	1351938	Human	1	name , trait
28877943	CV874629	single nucleotide variant	NM_032520.5(GNPTG):c.*34G>A	GNPTG-mucolipidosis [RCV001116740]	uncertain significance	16	1363125	1363125	Human	1	name , trait
28877948	CV874630	single nucleotide variant	NM_032520.5(GNPTG):c.*62G>A	GNPTG-mucolipidosis [RCV001116741]	uncertain significance	16	1363153	1363153	Human	1	name , trait
40904773	CV979747	single nucleotide variant	NM_032520.5(GNPTG):c.-10C>A	GNPTG-mucolipidosis [RCV001277822]\|GNPTG-related disorder [RCV003908488]	likely benign\|uncertain significance	16	1351956	1351956	Human	1	name , trait , alternate_id
127254308	CV1056285	single nucleotide variant	NM_032520.5(GNPTG):c.52+1G>C	GNPTG-mucolipidosis [RCV005014520]\|not provided [RCV001379129]	likely pathogenic	16	1352018	1352018	Human	1	name , trait
127277483	CV1081653	single nucleotide variant	NM_032520.5(GNPTG):c.53-8C>G	not provided [RCV001407858]	likely benign	16	1352094	1352094	Human		name
127250491	CV1081654	single nucleotide variant	NM_032520.5(GNPTG):c.53-7C>T	not provided [RCV001417599]	likely benign	16	1352095	1352095	Human		name
127281572	CV1103475	single nucleotide variant	NM_032520.5(GNPTG):c.52+9C>T	not provided [RCV001447238]	likely benign	16	1352026	1352026	Human		name
127310750	CV1145756	single nucleotide variant	NM_032520.5(GNPTG):c.53-5C>T	not provided [RCV001501443]	likely benign	16	1352097	1352097	Human		name
151884672	CV1452719	single nucleotide variant	NM_032520.5(GNPTG):c.52+1G>A	not provided [RCV002037600]	likely pathogenic	16	1352018	1352018	Human		name
151791345	CV1509367	single nucleotide variant	NM_032520.5(GNPTG):c.53-4G>A	not provided [RCV001876547]	likely benign	16	1352098	1352098	Human		name
8556992	CV17834	deletion	NM_032520.4(GNPTG):c.611delG	GNPTG-mucolipidosis [RCV000002929]	pathogenic	16	1362610	1362610	Human	1	name , trait
156015727	CV1986338	single nucleotide variant	NM_032520.5(GNPTG):c.52+8G>C	not provided [RCV002636455]	likely benign	16	1352025	1352025	Human		name
156262250	CV2143371	single nucleotide variant	NM_032520.5(GNPTG):c.52+5G>A	not provided [RCV003008964]	uncertain significance	16	1352022	1352022	Human		name
405212774	CV2878736	duplication	NM_032520.5(GNPTG):c.52+8dup	not provided [RCV003552809]	likely benign	16	1352023	1352024	Human		name
405217553	CV2907299	single nucleotide variant	NM_032520.5(GNPTG):c.52+7G>C	not provided [RCV003567975]	likely benign	16	1352024	1352024	Human		name
405177402	CV2912874	single nucleotide variant	NM_032520.5(GNPTG):c.53-2A>C	not provided [RCV003563657]	likely pathogenic	16	1352100	1352100	Human		name
405073403	CV3034472	single nucleotide variant	NM_032520.5(GNPTG):c.53-8C>T	not provided [RCV003698392]	likely benign	16	1352094	1352094	Human		name
405214903	CV3066552	single nucleotide variant	NM_032520.5(GNPTG):c.53-4G>T	not provided [RCV003732504]	likely benign	16	1352098	1352098	Human		name
405232385	CV3144596	single nucleotide variant	NM_032520.5(GNPTG):c.53-6C>T	not provided [RCV003853049]	likely benign	16	1352096	1352096	Human		name
11609470	CV324103	single nucleotide variant	NM_032520.5(GNPTG):c.*224T>C	GNPTG-mucolipidosis [RCV000368454]\|not provided [RCV001567402]	benign\|likely benign	16	1363315	1363315	Human	1	name , trait
11646941	CV324108	duplication	NM_032520.5(GNPTG):c.*257dup	GNPTG-mucolipidosis [RCV000273366]	uncertain significance	16	1363347	1363348	Human	1	name , trait
11655740	CV340483	single nucleotide variant	NM_032520.5(GNPTG):c.*205T>C	GNPTG-mucolipidosis [RCV000327817]	uncertain significance	16	1363296	1363296	Human	1	name , trait
597972615	CV3823433	single nucleotide variant	NM_032520.5(GNPTG):c.53-1G>A	not provided [RCV005167529]	likely pathogenic	16	1352101	1352101	Human		name
13790973	CV547670	single nucleotide variant	NM_032520.5(GNPTG):c.53-2A>G	GNPTG-mucolipidosis [RCV000666922]\|not provided [RCV000816688]	likely pathogenic	16	1352100	1352100	Human	1	name , trait
26914887	CV852087	single nucleotide variant	NM_032520.5(GNPTG):c.52+3G>C	GNPTG-mucolipidosis [RCV001832387]\|not provided [RCV001038196]	uncertain significance	16	1352020	1352020	Human	1	name , trait
28882606	CV874631	single nucleotide variant	NM_032520.5(GNPTG):c.*165A>T	GNPTG-mucolipidosis [RCV001118185]	uncertain significance	16	1363256	1363256	Human	1	name , trait
28882607	CV874632	single nucleotide variant	NM_032520.5(GNPTG):c.*233C>T	GNPTG-mucolipidosis [RCV001118186]	uncertain significance	16	1363324	1363324	Human	1	name , trait
28885721	CV876610	single nucleotide variant	NM_032520.5(GNPTG):c.52+5G>C	GNPTG-mucolipidosis [RCV001119140]	uncertain significance	16	1352022	1352022	Human	1	name , trait
126748232	CV1011826	single nucleotide variant	NM_032520.5(GNPTG):c.234-6C>T	GNPTG-mucolipidosis [RCV001831014]\|not provided [RCV001326303]	likely benign\|uncertain significance	16	1361866	1361866	Human	1	name , trait
126773746	CV1032329	duplication	NM_032520.5(GNPTG):c.233+2dup	not provided [RCV001346424]	uncertain significance	16	1361798	1361799	Human		name
126917180	CV1049308	single nucleotide variant	NM_032520.5(GNPTG):c.179-3C>T	GNPTG-mucolipidosis [RCV001826005]\|not provided [RCV001361018]	uncertain significance	16	1361740	1361740	Human	1	name , trait
126913577	CV1049311	single nucleotide variant	NM_032520.5(GNPTG):c.527-8G>A	GNPTG-mucolipidosis [RCV001825993]\|not provided [RCV001359228]	likely benign\|uncertain significance	16	1362444	1362444	Human	1	name , trait
127258521	CV1056286	single nucleotide variant	NM_032520.5(GNPTG):c.179-1G>A	GNPTG-mucolipidosis [RCV001831373]\|not provided [RCV001379957]	likely pathogenic	16	1361742	1361742	Human	1	name , trait
127277478	CV1081657	single nucleotide variant	NM_032520.5(GNPTG):c.234-4C>T	not provided [RCV001407854]	likely benign	16	1361868	1361868	Human		name
127282451	CV1081660	single nucleotide variant	NM_032520.5(GNPTG):c.412-5C>G	not provided [RCV001411129]	likely benign	16	1362201	1362201	Human		name
127258298	CV1081663	single nucleotide variant	NM_032520.5(GNPTG):c.527-8G>C	not provided [RCV001401666]	likely benign	16	1362444	1362444	Human		name
127256015	CV1081667	single nucleotide variant	NM_032520.5(GNPTG):c.742-6T>G	not provided [RCV001401170]	likely benign	16	1362819	1362819	Human		name
127276345	CV1103478	single nucleotide variant	NM_032520.5(GNPTG):c.110+9C>T	not provided [RCV001443772]	likely benign	16	1352168	1352168	Human		name
127273152	CV1103483	single nucleotide variant	NM_032520.5(GNPTG):c.233+9A>G	not provided [RCV001431560]	likely benign	16	1361806	1361806	Human		name
127273980	CV1103488	single nucleotide variant	NM_032520.5(GNPTG):c.526+8T>C	not provided [RCV001442769]	likely benign	16	1362328	1362328	Human		name
127270580	CV1103489	single nucleotide variant	NM_032520.5(GNPTG):c.526+9G>A	not provided [RCV001430677]	likely benign	16	1362329	1362329	Human		name
127281007	CV1103494	single nucleotide variant	NM_032520.5(GNPTG):c.610-9C>T	not provided [RCV001446844]	likely benign	16	1362602	1362602	Human		name
127299680	CV1124905	single nucleotide variant	NM_032520.5(GNPTG):c.317+7G>T	not provided [RCV001460891]	likely benign	16	1361962	1361962	Human		name
127286816	CV1145759	single nucleotide variant	NM_032520.5(GNPTG):c.111-8T>G	not provided [RCV001494574]	likely benign	16	1352231	1352231	Human		name
127298842	CV1145760	single nucleotide variant	NM_032520.5(GNPTG):c.178+8A>C	not provided [RCV001498167]	likely benign	16	1352314	1352314	Human		name
127316450	CV1145764	single nucleotide variant	NM_032520.5(GNPTG):c.317+9G>A	not provided [RCV001503022]	likely benign	16	1361964	1361964	Human		name
127318068	CV1145781	single nucleotide variant	NM_032520.5(GNPTG):c.741+9T>C	not provided [RCV001483378]	likely benign	16	1362751	1362751	Human		name
127317838	CV1145782	single nucleotide variant	NM_032520.5(GNPTG):c.742-4G>C	not provided [RCV001503501]	likely benign	16	1362821	1362821	Human		name
127309288	CV1157623	duplication	NM_032520.5(GNPTG):c.411+6dup	not provided [RCV001517817]	benign	16	1362133	1362134	Human		name
151729269	CV1410101	single nucleotide variant	NM_032520.5(GNPTG):c.742-3T>C	not provided [RCV001910694]	uncertain significance	16	1362822	1362822	Human		name
151875354	CV1461227	single nucleotide variant	NM_032520.5(GNPTG):c.233+6T>G	not provided [RCV001925743]	uncertain significance	16	1361803	1361803	Human		name
151736697	CV1464726	single nucleotide variant	NM_032520.5(GNPTG):c.234-1G>C	not provided [RCV001946660]	pathogenic	16	1361871	1361871	Human		name
151793459	CV1467729	single nucleotide variant	NM_032520.5(GNPTG):c.233+3G>A	not provided [RCV001931640]	uncertain significance	16	1361800	1361800	Human		name
151733098	CV1477435	single nucleotide variant	NM_032520.5(GNPTG):c.609+1G>T	not provided [RCV001967318]	pathogenic	16	1362535	1362535	Human		name
152117558	CV1522121	single nucleotide variant	NM_032520.5(GNPTG):c.179-9C>G	not provided [RCV002081099]	likely benign	16	1361734	1361734	Human		name
152044400	CV1525574	single nucleotide variant	NM_032520.5(GNPTG):c.610-6C>T	not provided [RCV002126489]	likely benign	16	1362605	1362605	Human		name
152069595	CV1535440	single nucleotide variant	NM_032520.5(GNPTG):c.234-8G>A	not provided [RCV002091403]	likely benign	16	1361864	1361864	Human		name
152065084	CV1539690	single nucleotide variant	NM_032520.5(GNPTG):c.823+7C>T	not provided [RCV002147305]	likely benign	16	1362913	1362913	Human		name
152095802	CV1562010	single nucleotide variant	NM_032520.5(GNPTG):c.741+8A>G	not provided [RCV002194900]	likely benign	16	1362750	1362750	Human		name
152116873	CV1566325	single nucleotide variant	NM_032520.5(GNPTG):c.412-4C>G	not provided [RCV002153766]	likely benign	16	1362202	1362202	Human		name
152038028	CV1576588	single nucleotide variant	NM_032520.5(GNPTG):c.52+20G>A	not provided [RCV002107315]	likely benign	16	1352037	1352037	Human		name
152131169	CV1585611	single nucleotide variant	NM_032520.5(GNPTG):c.610-7C>T	not provided [RCV002155558]	likely benign	16	1362604	1362604	Human		name
152039128	CV1592687	single nucleotide variant	NM_032520.5(GNPTG):c.52+16G>C	not provided [RCV002187988]	likely benign	16	1352033	1352033	Human		name
152101085	CV1606820	single nucleotide variant	NM_032520.5(GNPTG):c.53-20C>G	not provided [RCV002195558]	likely benign	16	1352082	1352082	Human		name
152087162	CV1608495	single nucleotide variant	NM_032520.5(GNPTG):c.179-9C>T	not provided [RCV002212203]	likely benign	16	1361734	1361734	Human		name
152073224	CV1609771	deletion	NM_032520.5(GNPTG):c.412-3del	not provided [RCV002129871]	benign	16	1362200	1362200	Human		name
152033376	CV1610344	duplication	NM_032520.5(GNPTG):c.412-3dup	not provided [RCV002124921]	benign	16	1362199	1362200	Human		name
152166368	CV1620942	single nucleotide variant	NM_032520.5(GNPTG):c.526+8T>G	not provided [RCV002181919]	likely benign	16	1362328	1362328	Human		name
152065425	CV1641227	single nucleotide variant	NM_032520.5(GNPTG):c.823+9C>A	not provided [RCV002209262]	likely benign	16	1362915	1362915	Human		name
152040515	CV1644611	single nucleotide variant	NM_032520.5(GNPTG):c.317+7G>A	not provided [RCV002165620]	likely benign	16	1361962	1361962	Human		name
152029628	CV1653372	single nucleotide variant	NM_032520.5(GNPTG):c.823+8A>T	not provided [RCV002085865]	likely benign	16	1362914	1362914	Human		name
152153883	CV1657866	single nucleotide variant	NM_032520.5(GNPTG):c.179-7C>T	not provided [RCV002179867]	likely benign	16	1361736	1361736	Human		name
152119996	CV1659352	single nucleotide variant	NM_032520.5(GNPTG):c.318-5C>T	not provided [RCV002175443]	likely benign	16	1362033	1362033	Human		name
152029959	CV1664850	single nucleotide variant	NM_032520.5(GNPTG):c.526+7G>A	not provided [RCV002105765]	likely benign	16	1362327	1362327	Human		name
155950242	CV1879125	single nucleotide variant	NM_032520.5(GNPTG):c.823+9C>G	not provided [RCV003074106]	likely benign	16	1362915	1362915	Human		name
156287333	CV1900741	single nucleotide variant	NM_032520.5(GNPTG):c.527-7T>G	not provided [RCV002598608]	uncertain significance	16	1362445	1362445	Human		name
156314582	CV1931551	single nucleotide variant	NM_032520.5(GNPTG):c.527-5C>G	not provided [RCV002629977]	likely benign	16	1362447	1362447	Human		name
156373493	CV1932909	single nucleotide variant	NM_032520.5(GNPTG):c.111-5C>G	not provided [RCV002633618]	uncertain significance	16	1352234	1352234	Human		name
156441989	CV1941650	single nucleotide variant	NM_032520.5(GNPTG):c.233+5G>C	not provided [RCV003112325]	uncertain significance	16	1361802	1361802	Human		name
156120617	CV1959326	single nucleotide variant	NM_032520.5(GNPTG):c.234-3C>T	not provided [RCV002571847]	uncertain significance	16	1361869	1361869	Human		name
156342823	CV1985055	single nucleotide variant	NM_032520.5(GNPTG):c.52+15C>G	not provided [RCV002631517]	likely benign	16	1352032	1352032	Human		name
156398556	CV1985479	single nucleotide variant	NM_032520.5(GNPTG):c.234-5C>G	not provided [RCV002635750]	likely benign	16	1361867	1361867	Human		name
156329022	CV1992494	single nucleotide variant	NM_032520.5(GNPTG):c.111-7C>T	not provided [RCV002649715]	likely benign	16	1352232	1352232	Human		name
156383212	CV2005167	single nucleotide variant	NM_032520.5(GNPTG):c.412-6C>A	not provided [RCV002653802]	likely benign	16	1362200	1362200	Human		name
156249466	CV2040981	single nucleotide variant	NM_032520.5(GNPTG):c.111-3T>C	not provided [RCV002805955]	uncertain significance	16	1352236	1352236	Human		name
156327310	CV2050375	single nucleotide variant	NM_032520.5(GNPTG):c.527-5C>T	not provided [RCV002810471]	likely benign	16	1362447	1362447	Human		name
156037405	CV2052591	single nucleotide variant	NM_032520.5(GNPTG):c.111-9T>C	not provided [RCV002796302]	likely benign	16	1352230	1352230	Human		name
156263673	CV2053958	single nucleotide variant	NM_032520.5(GNPTG):c.412-6C>T	not provided [RCV002792103]	likely benign	16	1362200	1362200	Human		name
156215879	CV2076773	single nucleotide variant	NM_032520.5(GNPTG):c.610-7C>A	not provided [RCV002875672]	likely benign	16	1362604	1362604	Human		name
156253549	CV2082704	single nucleotide variant	NM_032520.5(GNPTG):c.53-15T>C	not provided [RCV002877026]	likely benign	16	1352087	1352087	Human		name
155976853	CV2085279	single nucleotide variant	NM_032520.5(GNPTG):c.609+7G>T	not provided [RCV002863573]	likely benign	16	1362541	1362541	Human		name
155982970	CV2088952	single nucleotide variant	NM_032520.5(GNPTG):c.179-2A>G	not provided [RCV002863857]	likely pathogenic	16	1361741	1361741	Human		name
155999045	CV2106650	single nucleotide variant	NM_032520.5(GNPTG):c.609+6C>T	not provided [RCV002947698]	uncertain significance	16	1362540	1362540	Human		name
156004613	CV2106974	single nucleotide variant	NM_032520.5(GNPTG):c.317+4A>T	not provided [RCV002947955]	uncertain significance	16	1361959	1361959	Human		name
156125498	CV2124874	single nucleotide variant	NM_032520.5(GNPTG):c.178+2T>G	not provided [RCV002953668]	likely pathogenic	16	1352308	1352308	Human		name
156354694	CV2154158	single nucleotide variant	NM_032520.5(GNPTG):c.412-5C>T	not provided [RCV003031143]	likely benign	16	1362201	1362201	Human		name
156265455	CV2189167	single nucleotide variant	NM_032520.5(GNPTG):c.178+9G>T	not provided [RCV003044268]	likely benign	16	1352315	1352315	Human		name
243052406	CV2417888	single nucleotide variant	NM_032520.5(GNPTG):c.610-1G>A	GNPTG-mucolipidosis [RCV003152953]\|not provided [RCV003679163]	pathogenic	16	1362610	1362610	Human	1	name , trait
405019685	CV2866224	single nucleotide variant	NM_032520.5(GNPTG):c.52+19C>T	not provided [RCV003577484]	likely benign	16	1352036	1352036	Human		name
405091950	CV2878126	single nucleotide variant	NM_032520.5(GNPTG):c.526+1G>C	not provided [RCV003549963]	likely pathogenic	16	1362321	1362321	Human		name
405129393	CV2893312	single nucleotide variant	NM_032520.5(GNPTG):c.741+9T>G	not provided [RCV003559801]	likely benign	16	1362751	1362751	Human		name
402521466	CV2902645	single nucleotide variant	NM_032520.5(GNPTG):c.609+9G>A	not provided [RCV003575795]	likely benign	16	1362543	1362543	Human		name
405223202	CV2919017	single nucleotide variant	NM_032520.5(GNPTG):c.110+2T>C	not provided [RCV003568747]	likely pathogenic	16	1352161	1352161	Human		name
405013420	CV2933982	single nucleotide variant	NM_032520.5(GNPTG):c.609+7G>C	not provided [RCV003576884]	likely benign	16	1362541	1362541	Human		name
405187836	CV2964148	single nucleotide variant	NM_032520.5(GNPTG):c.318-8C>T	not provided [RCV003676859]	likely benign	16	1362030	1362030	Human		name
405228919	CV2973712	single nucleotide variant	NM_032520.5(GNPTG):c.111-5C>T	not provided [RCV003681848]	likely benign	16	1352234	1352234	Human		name
405223078	CV2976373	single nucleotide variant	NM_032520.5(GNPTG):c.742-5G>C	not provided [RCV003680926]	likely benign	16	1362820	1362820	Human		name
405187082	CV2977575	single nucleotide variant	NM_032520.5(GNPTG):c.609+2T>G	not provided [RCV003706117]	pathogenic	16	1362536	1362536	Human		name
402512836	CV2991183	single nucleotide variant	NM_032520.5(GNPTG):c.742-4G>A	not provided [RCV003689612]	likely benign	16	1362821	1362821	Human		name
402512490	CV2991272	single nucleotide variant	NM_032520.5(GNPTG):c.52+13G>A	not provided [RCV003689668]	likely benign	16	1352030	1352030	Human		name
402486629	CV2998945	single nucleotide variant	NM_032520.5(GNPTG):c.823+7C>A	not provided [RCV003687061]	likely benign	16	1362913	1362913	Human		name
402519417	CV3003339	single nucleotide variant	NM_032520.5(GNPTG):c.742-8G>A	not provided [RCV003716209]	likely benign	16	1362817	1362817	Human		name
405036995	CV3016746	single nucleotide variant	NM_032520.5(GNPTG):c.526+7G>T	not provided [RCV003695949]	likely benign	16	1362327	1362327	Human		name
405135431	CV3018647	single nucleotide variant	NM_032520.5(GNPTG):c.53-16G>T	not provided [RCV003702061]	likely benign	16	1352086	1352086	Human		name
405118718	CV3030417	single nucleotide variant	NM_032520.5(GNPTG):c.317+2T>A	not provided [RCV003700460]	likely pathogenic	16	1361957	1361957	Human		name
405185358	CV3040278	single nucleotide variant	NM_032520.5(GNPTG):c.233+7G>A	not provided [RCV003705904]	likely benign	16	1361804	1361804	Human		name
405124451	CV3043365	deletion	NM_032520.5(GNPTG):c.609+1del	not provided [RCV003724233]	pathogenic	16	1362534	1362534	Human		name
405217968	CV3048985	single nucleotide variant	NM_032520.5(GNPTG):c.53-17G>T	not provided [RCV003732903]	likely benign	16	1352085	1352085	Human		name
405176234	CV3049400	single nucleotide variant	NM_032520.5(GNPTG):c.53-11G>A	not provided [RCV003728365]	likely benign	16	1352091	1352091	Human		name
405144026	CV3056056	deletion	NM_032520.5(GNPTG):c.110+8del	not provided [RCV003725804]	likely benign	16	1352167	1352167	Human		name
405211138	CV3058934	single nucleotide variant	NM_032520.5(GNPTG):c.610-6C>G	not provided [RCV003731930]	likely benign	16	1362605	1362605	Human		name
405167523	CV3059709	single nucleotide variant	NM_032520.5(GNPTG):c.741+8A>T	not provided [RCV003727494]	likely benign	16	1362750	1362750	Human		name
405201386	CV3066796	single nucleotide variant	NM_032520.5(GNPTG):c.234-5C>T	not provided [RCV003730749]	likely benign	16	1361867	1361867	Human		name
405245751	CV3078736	single nucleotide variant	NM_032520.5(GNPTG):c.52+18C>T	not provided [RCV003738528]	likely benign	16	1352035	1352035	Human		name
405023989	CV3139357	single nucleotide variant	NM_032520.5(GNPTG):c.111-1G>C	not provided [RCV003830000]	likely pathogenic	16	1352238	1352238	Human		name
405105294	CV3139802	single nucleotide variant	NM_032520.5(GNPTG):c.234-4C>G	not provided [RCV003835213]	likely benign	16	1361868	1361868	Human		name
405207621	CV3149335	single nucleotide variant	NM_032520.5(GNPTG):c.52+16G>A	not provided [RCV003845245]	likely benign	16	1352033	1352033	Human		name
405245388	CV3161808	single nucleotide variant	NM_032520.5(GNPTG):c.52+15C>T	not provided [RCV003868521]	likely benign	16	1352032	1352032	Human		name
405153818	CV3163033	single nucleotide variant	NM_032520.5(GNPTG):c.178+1G>C	not provided [RCV003856476]	likely pathogenic	16	1352307	1352307	Human		name
405225692	CV3169293	single nucleotide variant	NM_032520.5(GNPTG):c.52+11C>T	not provided [RCV003864316]	likely benign	16	1352028	1352028	Human		name
405214288	CV3170007	single nucleotide variant	NM_032520.5(GNPTG):c.609+1G>A	not provided [RCV003862612]	pathogenic	16	1362535	1362535	Human		name
402501869	CV3181031	single nucleotide variant	NM_032520.5(GNPTG):c.53-14C>T	not provided [RCV003878048]	likely benign	16	1352088	1352088	Human		name
11614656	CV333724	single nucleotide variant	NM_032520.5(GNPTG):c.741+5C>T	GNPTG-mucolipidosis [RCV000278681]\|not provided [RCV000974796]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1362747	1362747	Human	1	name , trait
11620579	CV333726	single nucleotide variant	NM_032520.5(GNPTG):c.741+6G>A	GNPTG-mucolipidosis [RCV000338440]\|not provided [RCV000842691]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1362748	1362748	Human	1	name , trait
8567009	CV34566	single nucleotide variant	NM_032520.5(GNPTG):c.318-1G>C	GNPTG-mucolipidosis [RCV000020917]\|not provided [RCV001851981]	pathogenic\|not provided	16	1362037	1362037	Human	1	name , trait
8567015	CV34572	single nucleotide variant	NM_032520.5(GNPTG):c.610-1G>T	GNPTG-mucolipidosis [RCV000020923]	pathogenic	16	1362610	1362610	Human	1	name , trait
8567016	CV34573	single nucleotide variant	NM_032520.5(GNPTG):c.610-2A>G	GNPTG-mucolipidosis [RCV000020924]\|not provided [RCV001380067]	pathogenic	16	1362609	1362609	Human	1	name , trait
408384213	CV3525799	single nucleotide variant	NM_032520.5(GNPTG):c.411+5G>A	not specified [RCV004766709]	uncertain significance	16	1362136	1362136	Human		name
597741269	CV3711361	single nucleotide variant	NM_032520.5(GNPTG):c.526+2T>G	GNPTG-mucolipidosis [RCV005013797]\|not provided [RCV005112605]	likely pathogenic	16	1362322	1362322	Human	1	name , trait
597872399	CV3747165	single nucleotide variant	NM_032520.5(GNPTG):c.610-6C>A	not provided [RCV005068849]	likely benign	16	1362605	1362605	Human		name
597945887	CV3787014	single nucleotide variant	NM_032520.5(GNPTG):c.317+9G>T	not provided [RCV005119834]	likely benign	16	1361964	1361964	Human		name
597965318	CV3797099	single nucleotide variant	NM_032520.5(GNPTG):c.526+1G>A	not provided [RCV005140059]	likely pathogenic	16	1362321	1362321	Human		name
597862288	CV3822639	single nucleotide variant	NM_032520.5(GNPTG):c.318-4C>T	not provided [RCV005175170]	likely benign	16	1362034	1362034	Human		name
597847022	CV3823932	single nucleotide variant	NM_032520.5(GNPTG):c.52+19C>A	not provided [RCV005173171]	likely benign	16	1352036	1352036	Human		name
12854205	CV384470	single nucleotide variant	NM_032520.5(GNPTG):c.233+5G>A	GNPTG-mucolipidosis [RCV000449522]	likely pathogenic	16	1361802	1361802	Human	1	name , trait
13486818	CV445491	single nucleotide variant	NM_032520.5(GNPTG):c.318-1G>A	GNPTG-mucolipidosis [RCV000667666]\|not provided [RCV000523035]	pathogenic\|likely pathogenic	16	1362037	1362037	Human	1	name , trait
13706112	CV537252	single nucleotide variant	NM_032520.5(GNPTG):c.233+1G>C	not provided [RCV000658729]	pathogenic\|likely pathogenic	16	1361798	1361798	Human		name
13787248	CV547676	single nucleotide variant	NM_032520.5(GNPTG):c.233+1G>T	GNPTG-mucolipidosis [RCV000673356]	likely pathogenic	16	1361798	1361798	Human	1	name , trait
13785192	CV547720	single nucleotide variant	NM_032520.5(GNPTG):c.110+1G>A	GNPTG-mucolipidosis [RCV000671760]\|not provided [RCV001861807]	likely pathogenic	16	1352160	1352160	Human	1	name , trait
13791497	CV547722	single nucleotide variant	NM_032520.5(GNPTG):c.233+1G>A	GNPTG-mucolipidosis [RCV000667524]\|not provided [RCV000815845]	pathogenic\|likely pathogenic	16	1361798	1361798	Human	1	name , trait
13783079	CV547735	single nucleotide variant	NM_032520.5(GNPTG):c.412-1G>C	GNPTG-mucolipidosis [RCV000669666]\|not provided [RCV003542311]	likely pathogenic	16	1362205	1362205	Human	1	name , trait
13789672	CV547976	single nucleotide variant	NM_032520.5(GNPTG):c.233+2T>C	GNPTG-mucolipidosis [RCV000674626]	likely pathogenic	16	1361799	1361799	Human	1	name , trait
13785217	CV547980	single nucleotide variant	NM_032520.5(GNPTG):c.234-1G>A	GNPTG-mucolipidosis [RCV000671790]\|not provided [RCV001388643]	pathogenic\|likely pathogenic	16	1361871	1361871	Human	1	name , trait
13790205	CV547998	single nucleotide variant	NM_032520.5(GNPTG):c.823+1G>T	GNPTG-mucolipidosis [RCV000674922]	likely pathogenic	16	1362907	1362907	Human	1	name , trait
13791594	CV548412	single nucleotide variant	NM_032520.5(GNPTG):c.178+2T>C	GNPTG-mucolipidosis [RCV000667645]\|not provided [RCV002530718]	likely pathogenic	16	1352308	1352308	Human	1	name , trait
13785325	CV548420	single nucleotide variant	NM_032520.5(GNPTG):c.233+2T>A	GNPTG-mucolipidosis [RCV000671921]	likely pathogenic	16	1361799	1361799	Human	1	name , trait
13787164	CV548428	single nucleotide variant	NM_032520.5(GNPTG):c.609+1G>C	GNPTG-mucolipidosis [RCV000664681]	likely pathogenic	16	1362535	1362535	Human	1	name , trait
13782814	CV548437	single nucleotide variant	NM_032520.5(GNPTG):c.742-1G>A	GNPTG-mucolipidosis [RCV000669336]	likely pathogenic	16	1362824	1362824	Human	1	name , trait
13792140	CV548442	single nucleotide variant	NM_032520.5(GNPTG):c.742-1G>T	GNPTG-mucolipidosis [RCV000668332]\|not provided [RCV001855495]	likely pathogenic\|conflicting interpretations of pathogenicity	16	1362824	1362824	Human	1	name , trait
13787632	CV549728	single nucleotide variant	NM_032520.5(GNPTG):c.318-5C>A	not provided [RCV000675971]	likely benign\|uncertain significance	16	1362033	1362033	Human		name
14704024	CV654786	single nucleotide variant	NM_032520.5(GNPTG):c.178+1G>A	Mucolipidosis [RCV000825528]	likely pathogenic	16	1352307	1352307	Human	1	name
15190416	CV745196	single nucleotide variant	NM_032520.5(GNPTG):c.609+7G>A	GNPTG-mucolipidosis [RCV001278361]\|not provided [RCV000909941]	likely benign\|uncertain significance	16	1362541	1362541	Human	1	name , trait
15130192	CV760386	deletion	NM_032520.5(GNPTG):c.824-6del	not provided [RCV000919964]	likely benign	16	1362988	1362988	Human		name
15122703	CV776087	single nucleotide variant	NM_032520.5(GNPTG):c.233+9A>T	GNPTG-related disorder [RCV003933209]\|not provided [RCV000940726]	likely benign	16	1361806	1361806	Human	1	name , trait , alternate_id
15200524	CV778166	single nucleotide variant	NM_032520.5(GNPTG):c.412-8C>G	not provided [RCV000957356]	likely benign	16	1362198	1362198	Human		name
15153936	CV779750	single nucleotide variant	NM_032520.5(GNPTG):c.233+7G>T	GNPTG-mucolipidosis [RCV001273753]\|not provided [RCV000968639]	benign\|likely benign	16	1361804	1361804	Human	1	name , trait
26900165	CV851647	single nucleotide variant	NM_032520.5(GNPTG):c.53-10C>A	GNPTG-mucolipidosis [RCV001836106]\|not provided [RCV001067567]	likely benign\|uncertain significance	16	1352092	1352092	Human	1	name , trait
26921886	CV852618	single nucleotide variant	NM_032520.5(GNPTG):c.411+4G>A	GNPTG-mucolipidosis [RCV001836088]\|not provided [RCV001050963]	uncertain significance	16	1362135	1362135	Human	1	name , trait
28882274	CV876611	single nucleotide variant	NM_032520.5(GNPTG):c.234-8G>T	GNPTG-mucolipidosis [RCV001118078]\|not provided [RCV001407814]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1361864	1361864	Human	1	name , trait
34891511	CV906163	single nucleotide variant	NM_032520.5(GNPTG):c.110+1G>C	GNPTG-mucolipidosis [RCV001175119]	likely pathogenic	16	1352160	1352160	Human	1	name , trait
38491847	CV960832	deletion	NM_032520.5(GNPTG):c.53-10del	not provided [RCV001239709]	likely pathogenic	16	1352092	1352092	Human		name
40904777	CV979751	deletion	NM_032520.5(GNPTG):c.52+11del	GNPTG-mucolipidosis [RCV001277826]	uncertain significance	16	1352026	1352026	Human	1	name , trait
40905213	CV979754	single nucleotide variant	NM_032520.5(GNPTG):c.178+9G>C	GNPTG-mucolipidosis [RCV001278354]\|not provided [RCV002069426]	likely benign\|uncertain significance	16	1352315	1352315	Human	1	name , trait
126757749	CV996583	single nucleotide variant	NM_032520.5(GNPTG):c.823+5G>C	not provided [RCV001298979]	uncertain significance	16	1362911	1362911	Human		name
127255770	CV1081664	single nucleotide variant	NM_032520.5(GNPTG):c.609+14C>T	not provided [RCV001401113]	likely benign	16	1362548	1362548	Human		name
127259082	CV1103479	single nucleotide variant	NM_032520.5(GNPTG):c.111-10C>T	not provided [RCV001438291]	likely benign	16	1352229	1352229	Human		name
127304325	CV1124902	single nucleotide variant	NM_032520.5(GNPTG):c.234-10G>A	not provided [RCV001462186]	likely benign	16	1361862	1361862	Human		name
127294662	CV1124907	single nucleotide variant	NM_032520.5(GNPTG):c.412-18C>T	not provided [RCV001476880]	likely benign	16	1362188	1362188	Human		name
127301595	CV1124911	single nucleotide variant	NM_032520.5(GNPTG):c.610-20C>G	not provided [RCV001454201]	likely benign	16	1362591	1362591	Human		name
127292106	CV1124912	single nucleotide variant	NM_032520.5(GNPTG):c.741+10T>C	not provided [RCV001451686]	likely benign	16	1362752	1362752	Human		name
127301181	CV1145765	single nucleotide variant	NM_032520.5(GNPTG):c.317+12C>T	not provided [RCV001478611]	likely benign	16	1361967	1361967	Human		name
127318602	CV1145766	single nucleotide variant	NM_032520.5(GNPTG):c.318-19C>A	not provided [RCV001503753]	likely benign	16	1362019	1362019	Human		name
127286014	CV1145773	single nucleotide variant	NM_032520.5(GNPTG):c.526+10C>T	not provided [RCV001493985]	likely benign	16	1362330	1362330	Human		name
127296414	CV1157622	single nucleotide variant	NM_032520.5(GNPTG):c.318-18G>A	GNPTG-mucolipidosis [RCV002501768]\|not provided [RCV001512505]	benign\|likely benign	16	1362020	1362020	Human	1	name , trait
127298390	CV1157624	single nucleotide variant	NM_032520.5(GNPTG):c.412-17C>T	not provided [RCV001513244]	benign	16	1362189	1362189	Human		name
150510308	CV1211550	single nucleotide variant	NM_032520.5(GNPTG):c.318-34C>T	not provided [RCV001597342]	benign	16	1362004	1362004	Human		name
151808500	CV1474813	single nucleotide variant	NM_032520.5(GNPTG):c.233+19C>T	not provided [RCV001932966]	likely benign\|uncertain significance	16	1361816	1361816	Human		name
151809129	CV1476360	single nucleotide variant	NM_032520.5(GNPTG):c.110+18C>T	not provided [RCV001899772]	likely benign\|uncertain significance	16	1352177	1352177	Human		name
152048572	CV1549893	single nucleotide variant	NM_032520.5(GNPTG):c.824-15C>G	not provided [RCV002166568]	likely benign	16	1362982	1362982	Human		name
152071893	CV1552214	single nucleotide variant	NM_032520.5(GNPTG):c.610-17G>A	not provided [RCV002148195]	likely benign	16	1362594	1362594	Human		name
152042070	CV1553676	single nucleotide variant	NM_032520.5(GNPTG):c.742-15T>A	not provided [RCV002088093]	likely benign	16	1362810	1362810	Human		name
152160677	CV1555146	single nucleotide variant	NM_032520.5(GNPTG):c.823+17G>A	not provided [RCV002103736]	likely benign	16	1362923	1362923	Human		name
152160686	CV1555147	single nucleotide variant	NM_032520.5(GNPTG):c.824-16C>T	not provided [RCV002103737]	likely benign	16	1362981	1362981	Human		name
152060557	CV1558238	single nucleotide variant	NM_032520.5(GNPTG):c.526+16G>A	not provided [RCV002128290]	likely benign	16	1362336	1362336	Human		name
152062336	CV1558514	single nucleotide variant	NM_032520.5(GNPTG):c.233+20G>A	not provided [RCV002128487]	likely benign	16	1361817	1361817	Human		name
152096127	CV1559796	single nucleotide variant	NM_032520.5(GNPTG):c.317+19G>A	not provided [RCV002213381]	likely benign	16	1361974	1361974	Human		name
152092372	CV1567773	single nucleotide variant	NM_032520.5(GNPTG):c.318-12G>A	not provided [RCV002212902]	likely benign	16	1362026	1362026	Human		name
152138918	CV1571004	single nucleotide variant	NM_032520.5(GNPTG):c.110+13G>A	not provided [RCV002120085]	likely benign	16	1352172	1352172	Human		name
152037435	CV1572072	single nucleotide variant	NM_032520.5(GNPTG):c.526+15C>T	not provided [RCV002205828]	likely benign	16	1362335	1362335	Human		name
152028199	CV1586762	single nucleotide variant	NM_032520.5(GNPTG):c.234-16C>T	not provided [RCV002085384]	likely benign	16	1361856	1361856	Human		name
152102255	CV1591056	single nucleotide variant	NM_032520.5(GNPTG):c.412-13G>A	not provided [RCV002195699]	likely benign	16	1362193	1362193	Human		name
152090746	CV1602743	single nucleotide variant	NM_032520.5(GNPTG):c.610-20C>T	not provided [RCV002194265]	likely benign	16	1362591	1362591	Human		name
152086367	CV1608350	single nucleotide variant	NM_032520.5(GNPTG):c.526+11G>A	not provided [RCV002212095]	likely benign	16	1362331	1362331	Human		name
152106284	CV1609034	single nucleotide variant	NM_032520.5(GNPTG):c.609+11G>A	not provided [RCV002096209]	likely benign	16	1362545	1362545	Human		name
152077105	CV1612916	single nucleotide variant	NM_032520.5(GNPTG):c.318-13C>T	not provided [RCV002075880]	likely benign	16	1362025	1362025	Human		name
152094756	CV1617540	single nucleotide variant	NM_032520.5(GNPTG):c.824-15C>T	not provided [RCV002114557]	likely benign	16	1362982	1362982	Human		name
152079399	CV1620553	single nucleotide variant	NM_032520.5(GNPTG):c.318-12G>T	not provided [RCV002112544]	likely benign	16	1362026	1362026	Human		name
152043715	CV1624438	single nucleotide variant	NM_032520.5(GNPTG):c.233+11G>C	not provided [RCV002126417]	likely benign	16	1361808	1361808	Human	1	name
152043715	CV1624438	single nucleotide variant	NM_032520.5(GNPTG):c.233+11G>C	not provided [RCV002126417]	likely benign	16	1361808	1361809	Human	1	name
152031874	CV1629269	single nucleotide variant	NM_032520.5(GNPTG):c.824-17A>C	not provided [RCV002106256]	likely benign	16	1362980	1362980	Human		name
152031077	CV1632454	single nucleotide variant	NM_032520.5(GNPTG):c.178+18T>C	not provided [RCV002124473]	likely benign	16	1352324	1352324	Human		name
152026147	CV1639291	single nucleotide variant	NM_032520.5(GNPTG):c.823+14G>T	not provided [RCV002185054]	likely benign	16	1362920	1362920	Human		name
152118035	CV1644012	single nucleotide variant	NM_032520.5(GNPTG):c.742-16T>A	not provided [RCV002135350]	likely benign	16	1362809	1362809	Human		name
152064504	CV1645030	single nucleotide variant	NM_032520.5(GNPTG):c.610-12C>G	not provided [RCV002147223]	likely benign	16	1362599	1362599	Human		name
152056575	CV1649669	single nucleotide variant	NM_032520.5(GNPTG):c.741+16G>A	not provided [RCV002127853]	likely benign	16	1362758	1362758	Human		name
152059881	CV1650351	duplication	NM_032520.5(GNPTG):c.318-16dup	not provided [RCV002128216]	likely benign	16	1362021	1362022	Human		name
152144547	CV1651690	single nucleotide variant	NM_032520.5(GNPTG):c.527-10G>C	not provided [RCV002138620]	likely benign	16	1362442	1362442	Human		name
152072846	CV1657280	single nucleotide variant	NM_032520.5(GNPTG):c.234-17G>A	not provided [RCV002210208]	likely benign	16	1361855	1361855	Human		name
152174168	CV1662524	single nucleotide variant	NM_032520.5(GNPTG):c.609+19T>G	not provided [RCV002163061]	likely benign	16	1362553	1362553	Human		name
155267619	CV1705019	single nucleotide variant	NM_032520.5(GNPTG):c.526+41G>A	not provided [RCV002285624]	likely benign	16	1362361	1362361	Human		name
155268804	CV1705631	single nucleotide variant	NM_032520.5(GNPTG):c.824-33C>T	not provided [RCV002286238]	likely benign	16	1362964	1362964	Human		name
156154106	CV1875318	single nucleotide variant	NM_032520.5(GNPTG):c.411+14C>T	not provided [RCV003056642]	likely benign	16	1362145	1362145	Human		name
156388926	CV1875872	single nucleotide variant	NM_032520.5(GNPTG):c.317+13G>A	not provided [RCV003051108]	likely benign	16	1361968	1361968	Human		name
156128076	CV1889202	single nucleotide variant	NM_032520.5(GNPTG):c.609+15G>A	not provided [RCV003081721]	likely benign	16	1362549	1362549	Human		name
156196938	CV1889774	single nucleotide variant	NM_032520.5(GNPTG):c.824-12G>A	not provided [RCV003084071]	likely benign	16	1362985	1362985	Human		name
155912288	CV2011021	single nucleotide variant	NM_032520.5(GNPTG):c.111-10C>G	not provided [RCV002681809]	likely benign	16	1352229	1352229	Human		name
156378915	CV2028886	single nucleotide variant	NM_032520.5(GNPTG):c.234-17G>C	not provided [RCV002722156]	likely benign	16	1361855	1361855	Human		name
156144469	CV2033091	single nucleotide variant	NM_032520.5(GNPTG):c.234-19A>T	not provided [RCV002741015]	likely benign	16	1361853	1361853	Human		name
156135931	CV2044357	single nucleotide variant	NM_032520.5(GNPTG):c.317+16G>C	not provided [RCV002786348]	likely benign	16	1361971	1361971	Human		name
156377909	CV2050627	deletion	NM_032520.5(GNPTG):c.610-12del	not provided [RCV002814849]	likely benign	16	1362598	1362598	Human		name
156119272	CV2081602	single nucleotide variant	NM_032520.5(GNPTG):c.526+13G>A	not provided [RCV002889494]	likely benign	16	1362333	1362333	Human		name
156337794	CV2096039	single nucleotide variant	NM_032520.5(GNPTG):c.318-13C>G	not provided [RCV002900305]	likely benign	16	1362025	1362025	Human		name
156222861	CV2115215	single nucleotide variant	NM_032520.5(GNPTG):c.318-20C>T	not provided [RCV002932526]	likely benign	16	1362018	1362018	Human		name
156159906	CV2139078	single nucleotide variant	NM_032520.5(GNPTG):c.742-19C>T	not provided [RCV002982961]	likely benign	16	1362806	1362806	Human		name
156066650	CV2166932	single nucleotide variant	NM_032520.5(GNPTG):c.527-13C>T	not provided [RCV003019910]	likely benign	16	1362439	1362439	Human		name
156401515	CV2191212	single nucleotide variant	NM_032520.5(GNPTG):c.233+10G>A	not provided [RCV003052355]	likely benign	16	1361807	1361807	Human		name
11552067	CV255452	single nucleotide variant	NM_032520.5(GNPTG):c.233+35C>T	not specified [RCV000253885]	likely benign	16	1361832	1361832	Human		name
11545707	CV255453	single nucleotide variant	NM_032520.5(GNPTG):c.411+15G>A	not provided [RCV002058375]\|not specified [RCV000245500]	likely benign	16	1362146	1362146	Human		name
405170098	CV2854064	single nucleotide variant	NM_032520.5(GNPTG):c.318-15C>T	not provided [RCV003541984]	likely benign	16	1362023	1362023	Human		name
402478757	CV2854479	single nucleotide variant	NM_032520.5(GNPTG):c.742-18T>G	not provided [RCV003543702]	likely benign	16	1362807	1362807	Human		name
405082683	CV2864819	single nucleotide variant	NM_032520.5(GNPTG):c.233+12G>C	not provided [RCV003549271]	likely benign	16	1361809	1361809	Human		name
405084400	CV2865044	single nucleotide variant	NM_032520.5(GNPTG):c.823+16G>C	not provided [RCV003549390]	likely benign	16	1362922	1362922	Human		name
405219794	CV2869992	single nucleotide variant	NM_032520.5(GNPTG):c.412-20T>C	not provided [RCV003553613]	likely benign	16	1362186	1362186	Human		name
402498235	CV2871720	single nucleotide variant	NM_032520.5(GNPTG):c.234-15C>T	not provided [RCV003545610]	likely benign	16	1361857	1361857	Human		name
405206749	CV2873863	single nucleotide variant	NM_032520.5(GNPTG):c.178+13C>A	not provided [RCV003551962]	likely benign	16	1352319	1352319	Human		name
402495040	CV2875046	duplication	NM_032520.5(GNPTG):c.411+11dup	not provided [RCV003545309]	likely benign	16	1362141	1362142	Human		name
405222545	CV2890936	single nucleotide variant	NM_032520.5(GNPTG):c.179-18G>A	not provided [RCV003554094]	likely benign	16	1361725	1361725	Human		name
405240394	CV2892663	single nucleotide variant	NM_032520.5(GNPTG):c.318-15C>G	not provided [RCV003557207]	likely benign	16	1362023	1362023	Human		name
405240928	CV2893022	single nucleotide variant	NM_032520.5(GNPTG):c.526+19G>T	not provided [RCV003557300]	likely benign	16	1362339	1362339	Human		name
405053490	CV2893636	single nucleotide variant	NM_032520.5(GNPTG):c.110+17G>A	not provided [RCV003579899]	likely benign	16	1352176	1352176	Human		name
405162410	CV2899342	single nucleotide variant	NM_032520.5(GNPTG):c.527-15C>T	not provided [RCV003562393]	likely benign	16	1362437	1362437	Human		name
405168204	CV2900961	single nucleotide variant	NM_032520.5(GNPTG):c.178+16T>C	not provided [RCV003562859]	likely benign	16	1352322	1352322	Human		name
405166559	CV2902098	single nucleotide variant	NM_032520.5(GNPTG):c.233+19C>A	not provided [RCV003562724]	likely benign	16	1361816	1361816	Human		name
405136793	CV2906974	single nucleotide variant	NM_032520.5(GNPTG):c.234-12C>T	not provided [RCV003560471]	likely benign	16	1361860	1361860	Human		name
405010406	CV2923242	single nucleotide variant	NM_032520.5(GNPTG):c.610-11T>C	not provided [RCV003576633]	likely benign	16	1362600	1362600	Human		name
405015939	CV2930452	single nucleotide variant	NM_032520.5(GNPTG):c.411+20C>G	not provided [RCV003577025]	likely benign	16	1362151	1362151	Human		name
402469075	CV2930882	duplication	NM_032520.5(GNPTG):c.411+19dup	not provided [RCV003570049]	likely benign	16	1362149	1362150	Human		name
405070840	CV2936998	single nucleotide variant	NM_032520.5(GNPTG):c.609+11G>T	not provided [RCV003659360]	likely benign	16	1362545	1362545	Human		name
405168187	CV2950856	single nucleotide variant	NM_032520.5(GNPTG):c.741+11G>A	not provided [RCV003675107]	likely benign	16	1362753	1362753	Human		name
405120155	CV2952182	single nucleotide variant	NM_032520.5(GNPTG):c.317+16G>T	not provided [RCV003671335]	likely benign	16	1361971	1361971	Human		name
405127583	CV2958532	single nucleotide variant	NM_032520.5(GNPTG):c.111-12C>T	not provided [RCV003668005]	likely benign	16	1352227	1352227	Human		name
405141005	CV2961970	single nucleotide variant	NM_032520.5(GNPTG):c.317+18A>G	not provided [RCV003673179]	likely benign	16	1361973	1361973	Human		name
405136588	CV2963006	single nucleotide variant	NM_032520.5(GNPTG):c.411+15G>T	not provided [RCV003668767]	likely benign	16	1362146	1362146	Human		name
405230472	CV2977399	single nucleotide variant	NM_032520.5(GNPTG):c.610-13C>A	not provided [RCV003711323]	likely benign	16	1362598	1362598	Human		name
405213537	CV2984254	single nucleotide variant	NM_032520.5(GNPTG):c.317+20G>C	not provided [RCV003708953]	likely benign	16	1361975	1361975	Human		name
405204051	CV2986125	single nucleotide variant	NM_032520.5(GNPTG):c.317+13G>T	not provided [RCV003678440]	likely benign	16	1361968	1361968	Human		name
405226541	CV2986522	single nucleotide variant	NM_032520.5(GNPTG):c.111-16T>A	not provided [RCV003681435]	likely benign	16	1352223	1352223	Human		name
402489818	CV2995631	single nucleotide variant	NM_032520.5(GNPTG):c.412-13G>C	not provided [RCV003687337]	likely benign	16	1362193	1362193	Human		name
405206105	CV2997773	single nucleotide variant	NM_032520.5(GNPTG):c.411+19G>A	not provided [RCV003678691]	likely benign	16	1362150	1362150	Human		name
405025195	CV3002983	single nucleotide variant	NM_032520.5(GNPTG):c.178+12G>C	not provided [RCV003695078]	likely benign	16	1352318	1352318	Human		name
405077391	CV3008168	deletion	NM_032520.5(GNPTG):c.111-17del	not provided [RCV003716869]	likely benign	16	1352221	1352221	Human		name
402494196	CV3008564	single nucleotide variant	NM_032520.5(GNPTG):c.741+15G>C	not provided [RCV003687771]	likely benign	16	1362757	1362757	Human		name
405008138	CV3010212	single nucleotide variant	NM_032520.5(GNPTG):c.412-10C>G	not provided [RCV003693645]	likely benign	16	1362196	1362196	Human		name
405136990	CV3028672	single nucleotide variant	NM_032520.5(GNPTG):c.110+10C>T	not provided [RCV003702127]	likely benign	16	1352169	1352169	Human		name
405140693	CV3029741	single nucleotide variant	NM_032520.5(GNPTG):c.318-19C>T	not provided [RCV003702396]	likely benign	16	1362019	1362019	Human		name
405118556	CV3030392	single nucleotide variant	NM_032520.5(GNPTG):c.412-16C>A	not provided [RCV003700450]	likely benign	16	1362190	1362190	Human		name
405091846	CV3044712	single nucleotide variant	NM_032520.5(GNPTG):c.411+18A>G	not provided [RCV003717736]	likely benign	16	1362149	1362149	Human		name
405094756	CV3045523	single nucleotide variant	NM_032520.5(GNPTG):c.526+18A>G	not provided [RCV003717954]	likely benign	16	1362338	1362338	Human		name
405138385	CV3048407	single nucleotide variant	NM_032520.5(GNPTG):c.318-18G>T	not provided [RCV003725280]	likely benign	16	1362020	1362020	Human		name
405218520	CV3049010	single nucleotide variant	NM_032520.5(GNPTG):c.824-12G>C	not provided [RCV003732914]	likely benign	16	1362985	1362985	Human		name
405146706	CV3052410	single nucleotide variant	NM_032520.5(GNPTG):c.741+12G>T	not provided [RCV003726029]	likely benign	16	1362754	1362754	Human		name
405251328	CV3053280	single nucleotide variant	NM_032520.5(GNPTG):c.234-19A>G	not provided [RCV003721791]	likely benign	16	1361853	1361853	Human		name
405187630	CV3058870	single nucleotide variant	NM_032520.5(GNPTG):c.741+16G>T	not provided [RCV003729355]	likely benign	16	1362758	1362758	Human		name
405208170	CV3064616	single nucleotide variant	NM_032520.5(GNPTG):c.526+17C>G	not provided [RCV003731519]	likely benign	16	1362337	1362337	Human		name
405187801	CV3068835	single nucleotide variant	NM_032520.5(GNPTG):c.233+11G>A	not provided [RCV003729369]	likely benign	16	1361808	1361808	Human		name
405031183	CV3077395	single nucleotide variant	NM_032520.5(GNPTG):c.823+19G>C	not provided [RCV003739099]	likely benign	16	1362925	1362925	Human		name
405242458	CV3078604	single nucleotide variant	NM_032520.5(GNPTG):c.526+16G>T	not provided [RCV003737500]	likely benign	16	1362336	1362336	Human		name
405049062	CV3079878	single nucleotide variant	NM_032520.5(GNPTG):c.741+12G>C	not provided [RCV003740408]	likely benign	16	1362754	1362754	Human		name
405238359	CV3081052	single nucleotide variant	NM_032520.5(GNPTG):c.318-10G>C	not provided [RCV003736198]	likely benign	16	1362028	1362028	Human		name
405112368	CV3118526	single nucleotide variant	NM_032520.5(GNPTG):c.609+16G>A	not provided [RCV003813754]	likely benign	16	1362550	1362550	Human		name
405089518	CV3122237	single nucleotide variant	NM_032520.5(GNPTG):c.741+11G>T	not provided [RCV003810992]	likely benign	16	1362753	1362753	Human		name
404976905	CV3123657	single nucleotide variant	NM_032520.5(GNPTG):c.824-18C>T	not provided [RCV003825083]	likely benign	16	1362979	1362979	Human		name
404985838	CV3128353	duplication	NM_032520.5(GNPTG):c.824-17dup	not provided [RCV003826626]	likely benign	16	1362979	1362980	Human		name
405125704	CV3136485	single nucleotide variant	NM_032520.5(GNPTG):c.317+14G>C	not provided [RCV003837816]	likely benign	16	1361969	1361969	Human		name
405055376	CV3138551	single nucleotide variant	NM_032520.5(GNPTG):c.411+20C>T	not provided [RCV003832396]	likely benign	16	1362151	1362151	Human		name
405225461	CV3142268	single nucleotide variant	NM_032520.5(GNPTG):c.824-20G>C	not provided [RCV003847807]	likely benign	16	1362977	1362977	Human		name
405216167	CV3143256	single nucleotide variant	NM_032520.5(GNPTG):c.824-13G>C	not provided [RCV003846419]	likely benign	16	1362984	1362984	Human		name
405216468	CV3143301	single nucleotide variant	NM_032520.5(GNPTG):c.742-11G>A	not provided [RCV003846465]	likely benign	16	1362814	1362814	Human		name
405051335	CV3150906	single nucleotide variant	NM_032520.5(GNPTG):c.179-19A>T	not provided [RCV003849510]	likely benign	16	1361724	1361724	Human		name
405149262	CV3152121	single nucleotide variant	NM_032520.5(GNPTG):c.741+13G>A	not provided [RCV003856092]	likely benign	16	1362755	1362755	Human		name
405150008	CV3152174	single nucleotide variant	NM_032520.5(GNPTG):c.318-14C>G	not provided [RCV003856145]	likely benign	16	1362024	1362024	Human		name
405163647	CV3160301	single nucleotide variant	NM_032520.5(GNPTG):c.824-16C>G	not provided [RCV003857180]	likely benign	16	1362981	1362981	Human		name
405205114	CV3165571	single nucleotide variant	NM_032520.5(GNPTG):c.412-14C>A	not provided [RCV003861237]	likely benign	16	1362192	1362192	Human		name
402482544	CV3170845	single nucleotide variant	NM_032520.5(GNPTG):c.317+16G>A	not provided [RCV003876048]	likely benign	16	1361971	1361971	Human		name
402484749	CV3171264	single nucleotide variant	NM_032520.5(GNPTG):c.742-15T>C	not provided [RCV003876291]	likely benign	16	1362810	1362810	Human		name
404999122	CV3173057	single nucleotide variant	NM_032520.5(GNPTG):c.741+13G>C	not provided [RCV003882340]	likely benign	16	1362755	1362755	Human		name
402469320	CV3174586	duplication	NM_032520.5(GNPTG):c.179-17dup	not provided [RCV003873696]	likely benign	16	1361725	1361726	Human		name
402488067	CV3181917	single nucleotide variant	NM_032520.5(GNPTG):c.317+11C>T	not provided [RCV003876586]	likely benign	16	1361966	1361966	Human		name
402475051	CV3182723	single nucleotide variant	NM_032520.5(GNPTG):c.527-16T>C	not provided [RCV003874966]	likely benign	16	1362436	1362436	Human		name
405278463	CV3216583	single nucleotide variant	NM_032520.5(GNPTG):c.610-28G>C	GNPTG-related disorder [RCV003954491]	likely benign	16	1362583	1362583	Human		name , trait , alternate_id
11624383	CV341853	single nucleotide variant	NM_032520.5(GNPTG):c.412-14C>T	GNPTG-mucolipidosis [RCV000385031]\|not provided [RCV001402038]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1362192	1362192	Human	1	name , trait
597945853	CV3755449	single nucleotide variant	NM_032520.5(GNPTG):c.179-12G>A	not provided [RCV005078458]	likely benign	16	1361731	1361731	Human		name
597882553	CV3784118	single nucleotide variant	NM_032520.5(GNPTG):c.111-18C>T	not provided [RCV005124406]	likely benign	16	1352221	1352221	Human		name
597961584	CV3812184	single nucleotide variant	NM_032520.5(GNPTG):c.233+16G>A	not provided [RCV005163837]	likely benign	16	1361813	1361813	Human		name
597914933	CV3833992	single nucleotide variant	NM_032520.5(GNPTG):c.411+10C>G	not provided [RCV005183351]	likely benign	16	1362141	1362141	Human		name
8568510	CV39642	single nucleotide variant	NM_032520.5(GNPTG):c.527-10G>A	GNPTG-mucolipidosis [RCV000023662]	pathogenic	16	1362442	1362442	Human	1	name , trait
13787627	CV549726	single nucleotide variant	NM_032520.5(GNPTG):c.179-28C>G	not provided [RCV000675969]	likely benign	16	1361715	1361715	Human		name
15127320	CV776127	single nucleotide variant	NM_032520.5(GNPTG):c.609+10C>T	GNPTG-mucolipidosis [RCV001273762]\|not provided [RCV000941526]	likely benign\|uncertain significance	16	1362544	1362544	Human	1	name , trait
15113131	CV776473	single nucleotide variant	NM_032520.5(GNPTG):c.412-10C>T	not provided [RCV000939068]	likely benign	16	1362196	1362196	Human		name
38491543	CV960833	single nucleotide variant	NM_032520.5(GNPTG):c.318-10G>A	GNPTG-mucolipidosis [RCV001828923]\|not provided [RCV001239542]	likely benign\|uncertain significance	16	1362028	1362028	Human	1	name , trait
150444946	CV1278069	single nucleotide variant	NM_032520.5(GNPTG):c.178+186C>T	not provided [RCV001707212]	benign	16	1352492	1352492	Human		name
156398223	CV1990831	duplication	NM_032520.5(GNPTG):c.610-3_626dup	not provided [RCV002605350]	uncertain significance	16	1362606	1362607	Human		name
11646797	CV324097	microsatellite	NM_032520.5(GNPTG):c.*107ACAAA[1]	GNPTG-mucolipidosis [RCV000272635]	uncertain significance	16	1363198	1363202	Human		name , trait
597942711	CV3757853	microsatellite	NM_032520.5(GNPTG):c.741+18GGT[3]	not provided [RCV005077852]	likely benign	16	1362759	1362760	Human		name
26920685	CV852619	deletion	NM_032520.5(GNPTG):c.527-4_532del	not provided [RCV001048300]	likely pathogenic	16	1362446	1362455	Human		name
126908100	CV1049316	duplication	NM_032520.5(GNPTG):c.792_823+13dup	not provided [RCV001367589]	uncertain significance	16	1362874	1362875	Human		name
156308693	CV2076124	duplication	NM_032520.5(GNPTG):c.610-11_628dup	not provided [RCV002857536]	uncertain significance	16	1362599	1362600	Human		name
34891509	CV906164	deletion	NM_032520.5(GNPTG):c.318-28_351del	GNPTG-mucolipidosis [RCV001175118]\|not provided [RCV001875771]	pathogenic\|likely pathogenic	16	1362009	1362070	Human	1	name , trait
151735184	CV1391165	deletion	NM_032520.5(GNPTG):c.610-5_610-1del	not provided [RCV002005212]	likely pathogenic	16	1362606	1362610	Human		name
151867636	CV1436006	single nucleotide variant	NM_032520.5(GNPTG):c.6G>A (p.Ala2=)	not provided [RCV001997930]	likely benign\|uncertain significance	16	1351971	1351971	Human		name
152146101	CV1582759	duplication	NM_032520.5(GNPTG):c.823+5_823+8dup	not provided [RCV002201261]	likely benign	16	1362909	1362910	Human		name
152117762	CV1643888	single nucleotide variant	NM_032520.5(GNPTG):c.9G>C (p.Ala3=)	not provided [RCV002135315]	likely benign	16	1351974	1351974	Human		name
155929827	CV2095964	duplication	NM_032520.5(GNPTG):c.526+5_526+9dup	not provided [RCV002903763]	likely benign	16	1362323	1362324	Human		name
402520587	CV2940073	single nucleotide variant	NM_032520.5(GNPTG):c.9G>T (p.Ala3=)	not provided [RCV003663275]	likely benign	16	1351974	1351974	Human		name
405207314	CV2994556	duplication	NM_032520.5(GNPTG):c.52+15_52+36dup	not provided [RCV003678903]	likely benign	16	1352029	1352030	Human		name
11660076	CV324084	single nucleotide variant	NM_032520.5(GNPTG):c.6G>T (p.Ala2=)	GNPTG-mucolipidosis [RCV000364026]\|not provided [RCV001411925]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1351971	1351971	Human	1	name , trait
127241648	CV1081651	single nucleotide variant	NM_032520.5(GNPTG):c.25C>T (p.Leu9=)	not provided [RCV001415838]	likely benign	16	1351990	1351990	Human		name
127263976	CV1081656	deletion	NM_032520.5(GNPTG):c.233+9_233+19del	not provided [RCV001403131]	likely benign	16	1361802	1361812	Human		name
127282852	CV1103498	insertion	NM_032520.5(GNPTG):c.742-5_742-4insT	not provided [RCV001448125]	likely benign	16	1362820	1362821	Human		name
127313495	CV1124895	single nucleotide variant	NM_032520.5(GNPTG):c.24C>G (p.Leu8=)	not provided [RCV001457474]	likely benign	16	1351989	1351989	Human		name
127308311	CV1124896	single nucleotide variant	NM_032520.5(GNPTG):c.24C>T (p.Leu8=)	not provided [RCV001456055]	likely benign	16	1351989	1351989	Human		name
127288938	CV1124897	single nucleotide variant	NM_032520.5(GNPTG):c.27G>C (p.Leu9=)	not provided [RCV001450692]	likely benign	16	1351992	1351992	Human		name
127316613	CV1145754	single nucleotide variant	NM_032520.5(GNPTG):c.21G>T (p.Arg7=)	not provided [RCV001503066]	likely benign	16	1351986	1351986	Human		name
151854344	CV1473576	duplication	NM_032520.5(GNPTG):c.233+4_233+14dup	not provided [RCV001904499]	uncertain significance	16	1361797	1361798	Human		name
152141935	CV1526586	single nucleotide variant	NM_032520.5(GNPTG):c.27G>A (p.Leu9=)	not provided [RCV002084271]	likely benign	16	1351992	1351992	Human		name
152060906	CV1559268	duplication	NM_032520.5(GNPTG):c.411+9_411+35dup	not provided [RCV002167989]	likely benign	16	1362133	1362134	Human		name
152099807	CV1610724	duplication	NM_032520.5(GNPTG):c.610-12_610-6dup	not provided [RCV002133125]	likely benign	16	1362597	1362598	Human		name
156312119	CV1896337	single nucleotide variant	NM_032520.5(GNPTG):c.18G>A (p.Ala6=)	not provided [RCV003088513]	likely benign	16	1351983	1351983	Human		name
156294874	CV2047420	single nucleotide variant	NM_032520.5(GNPTG):c.15G>A (p.Leu5=)	not provided [RCV002770928]	likely benign	16	1351980	1351980	Human		name
156328342	CV2116237	single nucleotide variant	NM_032520.5(GNPTG):c.12G>T (p.Gly4=)	not provided [RCV002938219]	likely benign	16	1351977	1351977	Human		name
405128513	CV2893336	deletion	NM_032520.5(GNPTG):c.411+9_411+35del	not provided [RCV003559810]	likely benign	16	1362134	1362160	Human		name
405233783	CV2906637	single nucleotide variant	NM_032520.5(GNPTG):c.12G>A (p.Gly4=)	not provided [RCV003555827]	likely benign	16	1351977	1351977	Human		name
402481601	CV3001099	single nucleotide variant	NM_032520.5(GNPTG):c.21G>C (p.Arg7=)	not provided [RCV003686619]	likely benign	16	1351986	1351986	Human		name
405134415	CV3018284	single nucleotide variant	NM_032520.5(GNPTG):c.18G>T (p.Ala6=)	not provided [RCV003701881]	likely benign	16	1351983	1351983	Human		name
405181283	CV3024299	single nucleotide variant	NM_032520.5(GNPTG):c.19C>A (p.Arg7=)	not provided [RCV003705555]	likely benign	16	1351984	1351984	Human		name
405145752	CV3126470	single nucleotide variant	NM_032520.5(GNPTG):c.21G>A (p.Arg7=)	not provided [RCV003817197]	likely benign	16	1351986	1351986	Human		name
15201384	CV770538	single nucleotide variant	NM_032520.5(GNPTG):c.13C>T (p.Leu5=)	GNPTG-mucolipidosis [RCV001273748]\|not provided [RCV000935648]	likely benign\|uncertain significance	16	1351978	1351978	Human	1	name , trait
26884664	CV852616	deletion	NM_032520.5(GNPTG):c.233+4_233+14del	not provided [RCV001052323]	uncertain significance	16	1361798	1361808	Human		name
126754788	CV1011825	duplication	NM_032520.5(GNPTG):c.233+18_233+29dup	not provided [RCV001327589]	likely benign\|uncertain significance	16	1361814	1361815	Human		name
127231022	CV1081652	single nucleotide variant	NM_032520.5(GNPTG):c.33C>T (p.Leu11=)	not provided [RCV001395081]	likely benign	16	1351998	1351998	Human		name
127232943	CV1081655	single nucleotide variant	NM_032520.5(GNPTG):c.63G>A (p.Pro21=)	not provided [RCV001413686]	likely benign	16	1352112	1352112	Human		name
127232808	CV1103476	single nucleotide variant	NM_032520.5(GNPTG):c.66A>G (p.Ala22=)	not provided [RCV001421453]	likely benign	16	1352115	1352115	Human		name
127282696	CV1103477	single nucleotide variant	NM_032520.5(GNPTG):c.78G>A (p.Lys26=)	not provided [RCV001448043]	likely benign	16	1352127	1352127	Human		name
127294256	CV1124898	single nucleotide variant	NM_032520.5(GNPTG):c.57C>A (p.Pro19=)	not provided [RCV001452200]	likely benign	16	1352106	1352106	Human		name
127336859	CV1145755	single nucleotide variant	NM_032520.5(GNPTG):c.36C>T (p.Leu12=)	GNPTG-mucolipidosis [RCV001832644]\|not provided [RCV001492457]	likely benign	16	1352001	1352001	Human	1	name , trait
127327478	CV1145757	single nucleotide variant	NM_032520.5(GNPTG):c.63G>C (p.Pro21=)	not provided [RCV001486371]	likely benign	16	1352112	1352112	Human		name
151877838	CV1337715	single nucleotide variant	NM_032520.5(GNPTG):c.3G>A (p.Met1Ile)	not provided [RCV001926047]	uncertain significance	16	1351968	1351968	Human		name
152114635	CV1552394	single nucleotide variant	NM_032520.5(GNPTG):c.42C>G (p.Leu14=)	not provided [RCV002153498]	likely benign	16	1352007	1352007	Human		name
152121427	CV1570240	deletion	NM_032520.5(GNPTG):c.823+17_824-36del	not provided [RCV002216831]	likely benign	16	1362913	1362951	Human		name
152083599	CV1576847	single nucleotide variant	NM_032520.5(GNPTG):c.72A>C (p.Ala24=)	not provided [RCV002193341]	likely benign	16	1352121	1352121	Human		name
156323213	CV1882672	deletion	NM_032520.5(GNPTG):c.824-13_824-12del	not provided [RCV003089311]	likely benign	16	1362984	1362985	Human		name
156130343	CV1933788	single nucleotide variant	NM_032520.5(GNPTG):c.5C>T (p.Ala2Val)	not provided [RCV002640686]	uncertain significance	16	1351970	1351970	Human		name
156449509	CV1941765	single nucleotide variant	NM_032520.5(GNPTG):c.96G>A (p.Glu32=)	not provided [RCV003121631]	likely benign	16	1352145	1352145	Human		name
155957903	CV2010571	single nucleotide variant	NM_032520.5(GNPTG):c.60G>A (p.Ala20=)	not provided [RCV002686366]	likely benign	16	1352109	1352109	Human		name
156043615	CV2085929	single nucleotide variant	NM_032520.5(GNPTG):c.39G>T (p.Gly13=)	not provided [RCV002867539]	likely benign	16	1352004	1352004	Human		name
402476634	CV2917101	deletion	NM_032520.5(GNPTG):c.411+12_411+19del	not provided [RCV003571536]	likely benign	16	1362143	1362150	Human		name
402495918	CV2988597	deletion	NM_032520.5(GNPTG):c.317+12_317+17del	not provided [RCV003714254]	likely benign	16	1361962	1361967	Human		name
402497160	CV3006018	single nucleotide variant	NM_032520.5(GNPTG):c.48C>G (p.Ala16=)	not provided [RCV003688124]	likely benign	16	1352013	1352013	Human		name
405185371	CV3040279	single nucleotide variant	NM_032520.5(GNPTG):c.54G>T (p.Gly18=)	not provided [RCV003705905]	likely benign	16	1352103	1352103	Human		name
405161000	CV3061788	microsatellite	NM_032520.5(GNPTG):c.742-17_742-16del	not provided [RCV003727026]	likely benign	16	1362806	1362807	Human		name
405243312	CV3074856	duplication	NM_032520.5(GNPTG):c.16dup (p.Ala6fs)	not provided [RCV003737770]	pathogenic	16	1351979	1351980	Human		name
405248511	CV3159315	single nucleotide variant	NM_032520.5(GNPTG):c.57C>G (p.Pro19=)	not provided [RCV003869461]	likely benign	16	1352106	1352106	Human		name
405855247	CV3394009	insertion	NM_032520.5(GNPTG):c.823_823+1insTGCT	GNPTG-mucolipidosis [RCV004547235]	uncertain significance	16	1362906	1362907	Human	1	name , trait
8567014	CV34571	deletion	NM_032520.5(GNPTG):c.609+28_610-16del	GNPTG-mucolipidosis [RCV000020922]	pathogenic	16	1362562	1362595	Human	1	name , trait
597891510	CV3785005	deletion	NM_032520.5(GNPTG):c.824-12_824-10del	not provided [RCV005125784]	likely benign	16	1362983	1362985	Human		name
597868764	CV3838912	deletion	NM_032520.5(GNPTG):c.742-13_742-12del	not provided [RCV005176208]	uncertain significance	16	1362809	1362810	Human		name
13788381	CV547669	single nucleotide variant	NM_032520.5(GNPTG):c.7G>A (p.Ala3Thr)	GNPTG-mucolipidosis [RCV000665343]\|GNPTG-related disorder [RCV003965425]\|not provided [RCV002530653]\|not specified [RCV004768521]	likely benign\|uncertain significance	16	1351972	1351972	Human	1	name , trait , alternate_id
13786520	CV548448	deletion	NM_032520.5(GNPTG):c.824-39_824-13del	GNPTG-mucolipidosis [RCV000672874]	uncertain significance	16	1362950	1362976	Human	1	name , trait
14726886	CV643904	single nucleotide variant	NM_032520.5(GNPTG):c.8C>T (p.Ala3Val)	GNPTG-mucolipidosis [RCV001119136]\|not provided [RCV000815830]	uncertain significance	16	1351973	1351973	Human	1	name , trait
15189368	CV726423	single nucleotide variant	NM_032520.5(GNPTG):c.28T>C (p.Leu10=)	GNPTG-mucolipidosis [RCV001276183]\|not provided [RCV000887801]	likely benign	16	1351993	1351993	Human	1	name , trait
15142100	CV754887	single nucleotide variant	NM_032520.5(GNPTG):c.45G>T (p.Ser15=)	not provided [RCV000921952]	likely benign	16	1352010	1352010	Human		name
15103190	CV754888	single nucleotide variant	NM_032520.5(GNPTG):c.48C>T (p.Ala16=)	GNPTG-mucolipidosis [RCV001273750]\|not provided [RCV000915116]	likely benign\|uncertain significance	16	1352013	1352013	Human	1	name , trait
15187288	CV770539	single nucleotide variant	NM_032520.5(GNPTG):c.42C>T (p.Leu14=)	GNPTG-mucolipidosis [RCV001119139]\|not provided [RCV000931614]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1352007	1352007	Human	1	name , trait
15104473	CV785131	single nucleotide variant	NM_032520.5(GNPTG):c.45G>C (p.Ser15=)	not provided [RCV000976229]	likely benign	16	1352010	1352010	Human		name
40905211	CV979752	single nucleotide variant	NM_032520.5(GNPTG):c.84G>A (p.Lys28=)	GNPTG-mucolipidosis [RCV001278352]\|not provided [RCV001491664]	likely benign\|uncertain significance	16	1352133	1352133	Human	1	name , trait
126755787	CV1032327	single nucleotide variant	NM_032520.5(GNPTG):c.19C>T (p.Arg7Trp)	GNPTG-mucolipidosis [RCV001830408]\|not provided [RCV001339119]	uncertain significance	16	1351984	1351984	Human	1	name , trait
127252800	CV1081658	single nucleotide variant	NM_032520.5(GNPTG):c.285C>T (p.Thr95=)	not provided [RCV001400415]	likely benign	16	1361923	1361923	Human		name
127245422	CV1103480	single nucleotide variant	NM_032520.5(GNPTG):c.117C>T (p.Asn39=)	not provided [RCV001435210]	likely benign	16	1352245	1352245	Human		name
127267738	CV1103481	single nucleotide variant	NM_032520.5(GNPTG):c.171C>T (p.Pro57=)	not provided [RCV001429785]	likely benign	16	1352299	1352299	Human		name
127273172	CV1103482	single nucleotide variant	NM_032520.5(GNPTG):c.204G>T (p.Ser68=)	not provided [RCV001431565]	likely benign	16	1361768	1361768	Human		name
127298893	CV1124899	single nucleotide variant	NM_032520.5(GNPTG):c.114G>C (p.Val38=)	not provided [RCV001478012]	likely benign	16	1352242	1352242	Human		name
127334825	CV1124900	single nucleotide variant	NM_032520.5(GNPTG):c.144C>T (p.Arg48=)	not provided [RCV001473874]	likely benign	16	1352272	1352272	Human		name
127290405	CV1124901	single nucleotide variant	NM_032520.5(GNPTG):c.201C>T (p.Leu67=)	not provided [RCV001458428]	likely benign	16	1361765	1361765	Human		name
127292994	CV1124903	single nucleotide variant	NM_032520.5(GNPTG):c.279G>A (p.Glu93=)	not provided [RCV001476463]	likely benign	16	1361917	1361917	Human		name
127328253	CV1145758	single nucleotide variant	NM_032520.5(GNPTG):c.105G>C (p.Ala35=)	not provided [RCV001506962]	likely benign	16	1352154	1352154	Human		name
127290231	CV1145761	single nucleotide variant	NM_032520.5(GNPTG):c.267G>A (p.Val89=)	not provided [RCV001495916]	likely benign	16	1361905	1361905	Human		name
127310545	CV1145762	single nucleotide variant	NM_032520.5(GNPTG):c.276C>T (p.His92=)	not provided [RCV001501375]	likely benign	16	1361914	1361914	Human		name
151783121	CV1347532	single nucleotide variant	NM_032520.5(GNPTG):c.26T>A (p.Leu9Gln)	not provided [RCV002046351]	uncertain significance	16	1351991	1351991	Human		name
151862700	CV1365128	single nucleotide variant	NM_032520.5(GNPTG):c.17C>T (p.Ala6Val)	Inborn genetic diseases [RCV004631926]\|not provided [RCV002017955]	uncertain significance	16	1351982	1351982	Human	1	name
152038067	CV1525024	single nucleotide variant	NM_032520.5(GNPTG):c.213C>T (p.Cys71=)	not provided [RCV002165272]	likely benign	16	1361777	1361777	Human		name
152137185	CV1581405	single nucleotide variant	NM_032520.5(GNPTG):c.105G>A (p.Ala35=)	not provided [RCV002100275]	likely benign	16	1352154	1352154	Human		name
152162559	CV1584878	single nucleotide variant	NM_032520.5(GNPTG):c.102C>T (p.Asn34=)	not provided [RCV002123468]	likely benign	16	1352151	1352151	Human		name
152174530	CV1602039	single nucleotide variant	NM_032520.5(GNPTG):c.220C>T (p.Leu74=)	not provided [RCV002144467]	likely benign	16	1361784	1361784	Human		name
152073970	CV1615554	single nucleotide variant	NM_032520.5(GNPTG):c.153C>T (p.Ala51=)	not provided [RCV002091969]	likely benign	16	1352281	1352281	Human		name
152125336	CV1646159	single nucleotide variant	NM_032520.5(GNPTG):c.210G>A (p.Lys70=)	not provided [RCV002217324]	likely benign	16	1361774	1361774	Human		name
152091552	CV1646911	single nucleotide variant	NM_032520.5(GNPTG):c.114G>A (p.Val38=)	not provided [RCV002150656]	likely benign	16	1352242	1352242	Human		name
152147679	CV1647345	single nucleotide variant	NM_032520.5(GNPTG):c.219C>T (p.Ser73=)	not provided [RCV002201480]	likely benign	16	1361783	1361783	Human		name
152079752	CV1663482	single nucleotide variant	NM_032520.5(GNPTG):c.147C>G (p.Leu49=)	not provided [RCV002149151]	likely benign	16	1352275	1352275	Human		name
156403434	CV1901648	single nucleotide variant	NM_032520.5(GNPTG):c.186G>T (p.Val62=)	not provided [RCV002585213]	likely benign	16	1361750	1361750	Human		name
156403151	CV1908274	single nucleotide variant	NM_032520.5(GNPTG):c.180A>T (p.Gly60=)	not provided [RCV002585152]	uncertain significance	16	1361744	1361744	Human		name
156312408	CV1934550	single nucleotide variant	NM_032520.5(GNPTG):c.20G>A (p.Arg7Gln)	not provided [RCV002629853]	uncertain significance	16	1351985	1351985	Human		name
156446768	CV1948199	single nucleotide variant	NM_032520.5(GNPTG):c.249C>T (p.Phe83=)	not provided [RCV003118284]	likely benign	16	1361887	1361887	Human		name
155987169	CV1979658	single nucleotide variant	NM_032520.5(GNPTG):c.16G>A (p.Ala6Thr)	not provided [RCV002617859]	uncertain significance	16	1351981	1351981	Human		name
155978758	CV2028619	single nucleotide variant	NM_032520.5(GNPTG):c.231C>T (p.Ser77=)	not provided [RCV002755226]	likely benign	16	1361795	1361795	Human		name
156293902	CV2073372	single nucleotide variant	NM_032520.5(GNPTG):c.13C>G (p.Leu5Val)	not provided [RCV002833316]	uncertain significance	16	1351978	1351978	Human		name
156158114	CV2096736	single nucleotide variant	NM_032520.5(GNPTG):c.180A>C (p.Gly60=)	not provided [RCV002872555]	likely benign	16	1361744	1361744	Human		name
156005601	CV2126554	single nucleotide variant	NM_032520.5(GNPTG):c.225G>A (p.Val75=)	not provided [RCV002975388]	likely benign	16	1361789	1361789	Human		name
402515028	CV2855352	single nucleotide variant	NM_032520.5(GNPTG):c.196C>A (p.Arg66=)	not provided [RCV003547186]	likely benign	16	1361760	1361760	Human		name
405042170	CV2862897	duplication	NM_032520.5(GNPTG):c.4_7dup (p.Ala3fs)	not provided [RCV003579200]	pathogenic	16	1351967	1351968	Human		name
405206359	CV2873925	single nucleotide variant	NM_032520.5(GNPTG):c.291C>T (p.Arg97=)	not provided [RCV003551993]	likely benign	16	1361929	1361929	Human		name
405039258	CV3013577	single nucleotide variant	NM_032520.5(GNPTG):c.291C>G (p.Arg97=)	not provided [RCV003696194]	likely benign	16	1361929	1361929	Human		name
405129128	CV3014166	single nucleotide variant	NM_032520.5(GNPTG):c.141T>C (p.Ser47=)	not provided [RCV003701512]	likely benign	16	1352269	1352269	Human		name
402484231	CV3036792	single nucleotide variant	NM_032520.5(GNPTG):c.252C>T (p.Cys84=)	not provided [RCV003713143]	likely benign	16	1361890	1361890	Human		name
405137618	CV3125389	single nucleotide variant	NM_032520.5(GNPTG):c.126C>T (p.Phe42=)	not provided [RCV003816496]	likely benign	16	1352254	1352254	Human		name
405214841	CV3143178	single nucleotide variant	NM_032520.5(GNPTG):c.237C>T (p.Tyr79=)	not provided [RCV003846341]	likely benign	16	1361875	1361875	Human		name
405239313	CV3165796	single nucleotide variant	NM_032520.5(GNPTG):c.129G>A (p.Leu43=)	not provided [RCV003866808]	likely benign	16	1352257	1352257	Human		name
11613715	CV333708	single nucleotide variant	NM_032520.5(GNPTG):c.255G>A (p.Pro85=)	GNPTG-mucolipidosis [RCV000270851]\|GNPTG-related disorder [RCV003920340]\|not provided [RCV000513198]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1361893	1361893	Human	1	name , trait , alternate_id
597683644	CV3678323	single nucleotide variant	NM_032520.5(GNPTG):c.22C>A (p.Leu8Ile)	Inborn genetic diseases [RCV004983752]	uncertain significance	16	1351987	1351987	Human	1	name
13526914	CV512945	single nucleotide variant	NM_032520.5(GNPTG):c.264C>T (p.Asn88=)	GNPTG-mucolipidosis [RCV000625460]\|not provided [RCV000880814]\|not specified [RCV001701136]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	1361902	1361902	Human	1	name , trait
13787629	CV549727	single nucleotide variant	NM_032520.5(GNPTG):c.204G>C (p.Ser68=)	not provided [RCV000675970]	likely benign	16	1361768	1361768	Human		name
15124163	CV739949	single nucleotide variant	NM_032520.5(GNPTG):c.246G>A (p.Glu82=)	not provided [RCV000896539]	likely benign	16	1361884	1361884	Human		name
15120831	CV754889	single nucleotide variant	NM_032520.5(GNPTG):c.138C>T (p.Ala46=)	GNPTG-mucolipidosis [RCV001273751]\|not provided [RCV000918382]	likely benign\|uncertain significance	16	1352266	1352266	Human	1	name , trait
15100642	CV770540	single nucleotide variant	NM_032520.5(GNPTG):c.183C>T (p.Pro61=)	GNPTG-mucolipidosis [RCV001273752]\|GNPTG-related disorder [RCV003960523]\|not provided [RCV000936661]	likely benign	16	1361747	1361747	Human	1	name , trait , alternate_id
15193815	CV770541	single nucleotide variant	NM_032520.5(GNPTG):c.258C>T (p.Phe86=)	not provided [RCV000933465]	likely benign	16	1361896	1361896	Human		name
15120740	CV785132	single nucleotide variant	NM_032520.5(GNPTG):c.186G>A (p.Val62=)	not provided [RCV000979345]	likely benign	16	1361750	1361750	Human		name
28885712	CV874620	single nucleotide variant	NM_032520.5(GNPTG):c.11G>C (p.Gly4Ala)	GNPTG-mucolipidosis [RCV001119137]\|not provided [RCV001247333]	uncertain significance	16	1351976	1351976	Human	1	name , trait
28885717	CV874621	single nucleotide variant	NM_032520.5(GNPTG):c.23T>A (p.Leu8His)	GNPTG-mucolipidosis [RCV001119138]\|not provided [RCV001856564]	uncertain significance	16	1351988	1351988	Human	1	name , trait
28882279	CV874623	single nucleotide variant	NM_032520.5(GNPTG):c.297C>T (p.Asn99=)	GNPTG-mucolipidosis [RCV001118079]\|not provided [RCV001427064]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1361935	1361935	Human	1	name , trait
38461638	CV957613	single nucleotide variant	NM_032520.5(GNPTG):c.22C>T (p.Leu8Phe)	GNPTG-mucolipidosis [RCV001835286]\|not provided [RCV001246996]	uncertain significance	16	1351987	1351987	Human	1	name , trait
38491844	CV957614	single nucleotide variant	NM_032520.5(GNPTG):c.26T>C (p.Leu9Pro)	not provided [RCV001239708]	uncertain significance	16	1351991	1351991	Human		name
40904775	CV979749	single nucleotide variant	NM_032520.5(GNPTG):c.11G>A (p.Gly4Glu)	GNPTG-mucolipidosis [RCV001277824]\|not provided [RCV001572923]	likely benign\|uncertain significance	16	1351976	1351976	Human	1	name , trait
40904776	CV979750	single nucleotide variant	NM_032520.5(GNPTG):c.16G>T (p.Ala6Ser)	GNPTG-mucolipidosis [RCV001277825]\|not specified [RCV004699254]	uncertain significance	16	1351981	1351981	Human	1	name , trait
40905215	CV979756	single nucleotide variant	NM_032520.5(GNPTG):c.204G>A (p.Ser68=)	GNPTG-mucolipidosis [RCV001278356]\|not provided [RCV001477384]	likely benign\|uncertain significance	16	1361768	1361768	Human	1	name , trait
126736669	CV996579	single nucleotide variant	NM_032520.5(GNPTG):c.234G>A (p.Thr78=)	not provided [RCV001304775]	likely benign\|uncertain significance	16	1361872	1361872	Human		name
126774464	CV1032326	deletion	NM_032520.5(GNPTG):c.-2_9del (p.Met1fs)	not provided [RCV001347259]	uncertain significance	16	1351958	1351968	Human		name
127252874	CV1081659	single nucleotide variant	NM_032520.5(GNPTG):c.405G>A (p.Gln135=)	not provided [RCV001418171]	likely benign	16	1362125	1362125	Human		name
127259726	CV1081661	single nucleotide variant	NM_032520.5(GNPTG):c.456C>T (p.Ser152=)	not provided [RCV001419899]	likely benign	16	1362250	1362250	Human		name
127235798	CV1081662	single nucleotide variant	NM_032520.5(GNPTG):c.504C>G (p.Val168=)	not provided [RCV001396773]	likely benign	16	1362298	1362298	Human		name
127252861	CV1081665	single nucleotide variant	NM_032520.5(GNPTG):c.654C>T (p.Tyr218=)	not provided [RCV001418169]	likely benign	16	1362655	1362655	Human		name
127251832	CV1081666	single nucleotide variant	NM_032520.5(GNPTG):c.696A>G (p.Gly232=)	GNPTG-mucolipidosis [RCV001831420]\|not provided [RCV001400211]	likely benign	16	1362697	1362697	Human	1	name , trait
127279899	CV1081668	single nucleotide variant	NM_032520.5(GNPTG):c.756C>T (p.Leu252=)	not provided [RCV001409393]	likely benign	16	1362839	1362839	Human		name
127275045	CV1081669	single nucleotide variant	NM_032520.5(GNPTG):c.789C>T (p.Leu263=)	not provided [RCV001406588]	likely benign	16	1362872	1362872	Human		name
127256733	CV1081670	single nucleotide variant	NM_032520.5(GNPTG):c.813G>C (p.Thr271=)	not provided [RCV001401305]	likely benign	16	1362896	1362896	Human		name
127235544	CV1081671	single nucleotide variant	NM_032520.5(GNPTG):c.844T>C (p.Leu282=)	not provided [RCV001414489]	likely benign	16	1363017	1363017	Human		name
127277618	CV1081672	single nucleotide variant	NM_032520.5(GNPTG):c.873T>G (p.Ser291=)	not provided [RCV001407955]	likely benign	16	1363046	1363046	Human		name
127240647	CV1081673	single nucleotide variant	NM_032520.5(GNPTG):c.909G>C (p.Gly303=)	not provided [RCV001392964]	likely benign	16	1363082	1363082	Human		name
127252200	CV1103484	single nucleotide variant	NM_032520.5(GNPTG):c.348C>T (p.Asn116=)	not provided [RCV001425788]	likely benign	16	1362068	1362068	Human		name
127253428	CV1103485	single nucleotide variant	NM_032520.5(GNPTG):c.439C>A (p.Arg147=)	not provided [RCV001437008]	likely benign	16	1362233	1362233	Human		name
127242736	CV1103486	single nucleotide variant	NM_032520.5(GNPTG):c.462G>A (p.Pro154=)	not provided [RCV001423804]	likely benign	16	1362256	1362256	Human		name
127262895	CV1103487	single nucleotide variant	NM_032520.5(GNPTG):c.513C>T (p.Pro171=)	not provided [RCV001439159]	likely benign	16	1362307	1362307	Human		name
127259610	CV1103490	single nucleotide variant	NM_032520.5(GNPTG):c.531C>T (p.Tyr177=)	not provided [RCV001438387]	likely benign	16	1362456	1362456	Human		name
127268994	CV1103491	single nucleotide variant	NM_032520.5(GNPTG):c.556C>A (p.Arg186=)	not provided [RCV001430170]	likely benign	16	1362481	1362481	Human		name
127255005	CV1103492	single nucleotide variant	NM_032520.5(GNPTG):c.585G>C (p.Leu195=)	not provided [RCV001437383]	likely benign	16	1362510	1362510	Human		name
127275442	CV1103493	single nucleotide variant	NM_032520.5(GNPTG):c.600C>T (p.Ile200=)	not provided [RCV001443327]	likely benign	16	1362525	1362525	Human		name
127243586	CV1103495	single nucleotide variant	NM_032520.5(GNPTG):c.681C>G (p.Pro227=)	not provided [RCV001423979]	likely benign	16	1362682	1362682	Human		name
127270402	CV1103496	single nucleotide variant	NM_032520.5(GNPTG):c.690G>A (p.Leu230=)	not provided [RCV001441447]	likely benign	16	1362691	1362691	Human		name
127265354	CV1103497	single nucleotide variant	NM_032520.5(GNPTG):c.702T>G (p.Pro234=)	not provided [RCV001429046]	likely benign	16	1362703	1362703	Human		name
127232900	CV1103499	single nucleotide variant	NM_032520.5(GNPTG):c.828T>C (p.Thr276=)	not provided [RCV001421484]	likely benign	16	1363001	1363001	Human		name
127314441	CV1124904	single nucleotide variant	NM_032520.5(GNPTG):c.315C>T (p.Leu105=)	not provided [RCV001464966]	likely benign	16	1361953	1361953	Human		name
127331502	CV1124906	single nucleotide variant	NM_032520.5(GNPTG):c.381C>T (p.Asp127=)	not provided [RCV001471629]	likely benign	16	1362101	1362101	Human		name
127315003	CV1124908	single nucleotide variant	NM_032520.5(GNPTG):c.468C>T (p.Thr156=)	not provided [RCV001465117]	likely benign	16	1362262	1362262	Human		name
127298804	CV1124909	single nucleotide variant	NM_032520.5(GNPTG):c.471C>T (p.Cys157=)	not provided [RCV001453439]	likely benign	16	1362265	1362265	Human		name
127302643	CV1124910	single nucleotide variant	NM_032520.5(GNPTG):c.495C>T (p.Thr165=)	not provided [RCV001454488]	likely benign	16	1362289	1362289	Human		name
127301541	CV1124913	single nucleotide variant	NM_032520.5(GNPTG):c.813G>A (p.Thr271=)	not provided [RCV001454183]	likely benign	16	1362896	1362896	Human		name
127334294	CV1124914	single nucleotide variant	NM_032520.5(GNPTG):c.862A>C (p.Arg288=)	GNPTG-mucolipidosis [RCV001836413]\|not provided [RCV001473493]	likely benign	16	1363035	1363035	Human	1	name , trait
127326019	CV1145763	single nucleotide variant	NM_032520.5(GNPTG):c.315C>A (p.Leu105=)	not provided [RCV001485933]	likely benign	16	1361953	1361953	Human		name
127334088	CV1145767	single nucleotide variant	NM_032520.5(GNPTG):c.375C>T (p.Asp125=)	not provided [RCV001490619]	likely benign	16	1362095	1362095	Human		name
127322772	CV1145768	single nucleotide variant	NM_032520.5(GNPTG):c.393C>T (p.Ser131=)	not provided [RCV001505218]	likely benign	16	1362113	1362113	Human		name
127293690	CV1145769	single nucleotide variant	NM_032520.5(GNPTG):c.396G>T (p.Arg132=)	not provided [RCV001496836]	likely benign	16	1362116	1362116	Human		name
127329108	CV1145770	single nucleotide variant	NM_032520.5(GNPTG):c.456C>G (p.Ser152=)	not provided [RCV001487233]	likely benign	16	1362250	1362250	Human		name
127325541	CV1145771	single nucleotide variant	NM_032520.5(GNPTG):c.501C>T (p.Leu167=)	not provided [RCV001485828]	likely benign	16	1362295	1362295	Human		name
127312250	CV1145772	single nucleotide variant	NM_032520.5(GNPTG):c.504C>T (p.Val168=)	not provided [RCV001481639]	likely benign	16	1362298	1362298	Human		name
127328714	CV1145774	single nucleotide variant	NM_032520.5(GNPTG):c.540G>A (p.Leu180=)	not provided [RCV001486925]	likely benign	16	1362465	1362465	Human		name
127336105	CV1145775	single nucleotide variant	NM_032520.5(GNPTG):c.583C>T (p.Leu195=)	not provided [RCV001491960]	likely benign	16	1362508	1362508	Human		name
127302508	CV1145776	single nucleotide variant	NM_032520.5(GNPTG):c.597G>A (p.Leu199=)	not provided [RCV001499096]	likely benign	16	1362522	1362522	Human		name
127308153	CV1145777	single nucleotide variant	NM_032520.5(GNPTG):c.627G>A (p.Leu209=)	not provided [RCV001480530]	likely benign	16	1362628	1362628	Human		name
127337976	CV1145778	single nucleotide variant	NM_032520.5(GNPTG):c.633A>G (p.Thr211=)	not provided [RCV001493335]	likely benign	16	1362634	1362634	Human		name
127306876	CV1145779	single nucleotide variant	NM_032520.5(GNPTG):c.636T>G (p.Leu212=)	not provided [RCV001500336]	likely benign	16	1362637	1362637	Human		name
127326291	CV1145780	single nucleotide variant	NM_032520.5(GNPTG):c.726G>A (p.Leu242=)	not provided [RCV001485995]	likely benign	16	1362727	1362727	Human		name
127333231	CV1145783	single nucleotide variant	NM_032520.5(GNPTG):c.852C>T (p.His284=)	not provided [RCV001490036]	likely benign	16	1363025	1363025	Human		name
127334658	CV1145784	single nucleotide variant	NM_032520.5(GNPTG):c.858G>A (p.Thr286=)	not provided [RCV001490995]	likely benign	16	1363031	1363031	Human		name
127309271	CV1145785	single nucleotide variant	NM_032520.5(GNPTG):c.897A>C (p.Pro299=)	not provided [RCV001480795]	likely benign	16	1363070	1363070	Human		name
127308904	CV1145786	single nucleotide variant	NM_032520.5(GNPTG):c.906T>C (p.Arg302=)	not provided [RCV001500890]	likely benign	16	1363079	1363079	Human		name
151726545	CV1352913	single nucleotide variant	NM_032520.5(GNPTG):c.91G>A (p.Glu31Lys)	not provided [RCV001891791]	uncertain significance	16	1352140	1352140	Human		name
151771723	CV1392890	duplication	NM_032520.5(GNPTG):c.183dup (p.Val62fs)	not provided [RCV001950221]	pathogenic	16	1361744	1361745	Human		name
152090740	CV1525643	single nucleotide variant	NM_032520.5(GNPTG):c.621G>A (p.Lys207=)	not provided [RCV002150556]	likely benign	16	1362622	1362622	Human		name
152060190	CV1532848	single nucleotide variant	NM_032520.5(GNPTG):c.663C>G (p.Thr221=)	not provided [RCV002208560]	likely benign	16	1362664	1362664	Human		name
152122315	CV1541487	single nucleotide variant	NM_032520.5(GNPTG):c.480G>A (p.Ala160=)	not provided [RCV002175743]	likely benign	16	1362274	1362274	Human		name
152109268	CV1550922	single nucleotide variant	NM_032520.5(GNPTG):c.711G>A (p.Leu237=)	not provided [RCV002152820]	likely benign	16	1362712	1362712	Human		name
152125916	CV1554154	single nucleotide variant	NM_032520.5(GNPTG):c.651C>T (p.Gly217=)	not provided [RCV002098818]	likely benign	16	1362652	1362652	Human		name
152068851	CV1569838	single nucleotide variant	NM_032520.5(GNPTG):c.399C>T (p.Ser133=)	not provided [RCV002191509]	likely benign	16	1362119	1362119	Human		name
152153422	CV1577890	single nucleotide variant	NM_032520.5(GNPTG):c.714G>T (p.Gly238=)	not provided [RCV002122079]	likely benign	16	1362715	1362715	Human		name
152048997	CV1585472	single nucleotide variant	NM_032520.5(GNPTG):c.795G>A (p.Gln265=)	not provided [RCV002145435]	likely benign	16	1362878	1362878	Human		name
152142495	CV1587551	single nucleotide variant	NM_032520.5(GNPTG):c.357G>T (p.Thr119=)	not provided [RCV002138352]	likely benign	16	1362077	1362077	Human		name
152156401	CV1589575	single nucleotide variant	NM_032520.5(GNPTG):c.709T>C (p.Leu237=)	not provided [RCV002122495]	likely benign	16	1362710	1362710	Human		name
152161197	CV1606119	single nucleotide variant	NM_032520.5(GNPTG):c.495C>G (p.Thr165=)	not provided [RCV002180963]	likely benign	16	1362289	1362289	Human		name
152062837	CV1612513	single nucleotide variant	NM_032520.5(GNPTG):c.450T>C (p.His150=)	not provided [RCV002168218]	likely benign	16	1362244	1362244	Human		name
152121283	CV1613170	single nucleotide variant	NM_032520.5(GNPTG):c.861C>G (p.Pro287=)	not provided [RCV002154290]	likely benign	16	1363034	1363034	Human		name
152163907	CV1619122	single nucleotide variant	NM_032520.5(GNPTG):c.768C>T (p.Ile256=)	not provided [RCV002123695]	likely benign	16	1362851	1362851	Human		name
152088343	CV1638890	single nucleotide variant	NM_032520.5(GNPTG):c.915G>A (p.Leu305=)	not provided [RCV002150256]	likely benign	16	1363088	1363088	Human		name
152146969	CV1653555	single nucleotide variant	NM_032520.5(GNPTG):c.663C>A (p.Thr221=)	not provided [RCV002138942]	likely benign	16	1362664	1362664	Human		name
152147419	CV1653665	single nucleotide variant	NM_032520.5(GNPTG):c.576G>A (p.Glu192=)	not provided [RCV002139010]	likely benign	16	1362501	1362501	Human		name
152145625	CV1658375	single nucleotide variant	NM_032520.5(GNPTG):c.570G>A (p.Gln190=)	not provided [RCV002219996]	likely benign	16	1362495	1362495	Human		name
156161956	CV1872380	single nucleotide variant	NM_032520.5(GNPTG):c.37G>C (p.Gly13Arg)	Inborn genetic diseases [RCV004978513]\|not provided [RCV003056938]	uncertain significance	16	1352002	1352002	Human	1	name
156235915	CV1882100	single nucleotide variant	NM_032520.5(GNPTG):c.453G>A (p.Val151=)	not provided [RCV003085561]	likely benign	16	1362247	1362247	Human		name
156022802	CV1882488	single nucleotide variant	NM_032520.5(GNPTG):c.801C>T (p.Gly267=)	not provided [RCV003077707]	likely benign	16	1362884	1362884	Human		name
156330368	CV1884334	single nucleotide variant	NM_032520.5(GNPTG):c.585G>A (p.Leu195=)	not provided [RCV003089756]	likely benign	16	1362510	1362510	Human		name
156413492	CV1887965	single nucleotide variant	NM_032520.5(GNPTG):c.900A>C (p.Gly300=)	not provided [RCV003073312]	likely benign	16	1363073	1363073	Human		name
156247558	CV1890586	single nucleotide variant	NM_032520.5(GNPTG):c.609G>A (p.Gln203=)	not provided [RCV003085983]	uncertain significance	16	1362534	1362534	Human		name
156054804	CV1891980	single nucleotide variant	NM_032520.5(GNPTG):c.61C>G (p.Pro21Ala)	Inborn genetic diseases [RCV003161691]\|Retinal dystrophy [RCV004817221]\|not provided [RCV003079010]	uncertain significance	16	1352110	1352110	Human	3	name
156316746	CV1901275	single nucleotide variant	NM_032520.5(GNPTG):c.354C>T (p.Phe118=)	not provided [RCV002578991]	likely benign	16	1362074	1362074	Human		name
156184759	CV1908753	single nucleotide variant	NM_032520.5(GNPTG):c.357G>A (p.Thr119=)	not provided [RCV002595178]	likely benign	16	1362077	1362077	Human		name
156418107	CV1914427	single nucleotide variant	NM_032520.5(GNPTG):c.423G>T (p.Ala141=)	not provided [RCV002611282]	likely benign	16	1362217	1362217	Human		name
156414172	CV1915782	single nucleotide variant	NM_032520.5(GNPTG):c.61C>A (p.Pro21Thr)	not provided [RCV002588453]	uncertain significance	16	1352110	1352110	Human		name
156404527	CV1916605	deletion	NM_032520.5(GNPTG):c.102del (p.Asn34fs)	not provided [RCV002606116]	pathogenic	16	1352151	1352151	Human		name
156393095	CV1933797	single nucleotide variant	NM_032520.5(GNPTG):c.73G>A (p.Ala25Thr)	not provided [RCV002654576]	uncertain significance	16	1352122	1352122	Human		name
156416764	CV1969987	single nucleotide variant	NM_032520.5(GNPTG):c.303C>T (p.Tyr101=)	not provided [RCV002589863]	likely benign	16	1361941	1361941	Human		name
156323249	CV1988551	single nucleotide variant	NM_032520.5(GNPTG):c.843C>T (p.His281=)	not provided [RCV002649388]	likely benign	16	1363016	1363016	Human		name
156287042	CV2001785	single nucleotide variant	NM_032520.5(GNPTG):c.312C>A (p.Ile104=)	not provided [RCV002647048]	likely benign	16	1361950	1361950	Human		name
156363008	CV2003339	single nucleotide variant	NM_032520.5(GNPTG):c.876A>G (p.Pro292=)	not provided [RCV002676370]	likely benign	16	1363049	1363049	Human		name
156107150	CV2008436	single nucleotide variant	NM_032520.5(GNPTG):c.77A>T (p.Lys26Met)	not provided [RCV002695523]	uncertain significance	16	1352126	1352126	Human		name
156143920	CV2044623	single nucleotide variant	NM_032520.5(GNPTG):c.47C>T (p.Ala16Val)	not provided [RCV002801057]	uncertain significance	16	1352012	1352012	Human		name
156341509	CV2055415	single nucleotide variant	NM_032520.5(GNPTG):c.870G>A (p.Lys290=)	not provided [RCV002811225]	likely benign	16	1363043	1363043	Human		name
156084210	CV2060388	single nucleotide variant	NM_032520.5(GNPTG):c.357G>C (p.Thr119=)	not provided [RCV002823956]	likely benign	16	1362077	1362077	Human		name
156042115	CV2071644	single nucleotide variant	NM_032520.5(GNPTG):c.753A>G (p.Glu251=)	not provided [RCV002846138]	likely benign	16	1362836	1362836	Human		name
156010784	CV2079679	single nucleotide variant	NM_032520.5(GNPTG):c.885G>C (p.Leu295=)	not provided [RCV002866095]	likely benign	16	1363058	1363058	Human		name
156090768	CV2080261	single nucleotide variant	NM_032520.5(GNPTG):c.885G>A (p.Leu295=)	not provided [RCV002847707]	likely benign	16	1363058	1363058	Human		name
155912801	CV2081378	single nucleotide variant	NM_032520.5(GNPTG):c.913T>C (p.Leu305=)	not provided [RCV002858612]	likely benign	16	1363086	1363086	Human		name
155910714	CV2084650	single nucleotide variant	NM_032520.5(GNPTG):c.724C>T (p.Leu242=)	not provided [RCV002858466]	likely benign	16	1362725	1362725	Human		name
156125894	CV2088365	single nucleotide variant	NM_032520.5(GNPTG):c.606C>G (p.Pro202=)	not provided [RCV002871448]	likely benign	16	1362531	1362531	Human		name
156261958	CV2100682	single nucleotide variant	NM_032520.5(GNPTG):c.492G>A (p.Glu164=)	not provided [RCV002877304]	likely benign	16	1362286	1362286	Human		name
156162646	CV2135515	deletion	NM_032520.5(GNPTG):c.108del (p.Phe36fs)	not provided [RCV002983062]	pathogenic	16	1352155	1352155	Human		name
156235903	CV2145321	single nucleotide variant	NM_032520.5(GNPTG):c.759A>G (p.Ser253=)	not provided [RCV003007920]	likely benign	16	1362842	1362842	Human		name
156314073	CV2160677	single nucleotide variant	NM_032520.5(GNPTG):c.909G>A (p.Gly303=)	not provided [RCV003046200]	likely benign	16	1363082	1363082	Human		name
156340232	CV2179749	single nucleotide variant	NM_032520.5(GNPTG):c.849C>T (p.Gly283=)	not provided [RCV003030244]	likely benign	16	1363022	1363022	Human		name
156334264	CV2191611	single nucleotide variant	NM_032520.5(GNPTG):c.315C>G (p.Leu105=)	not provided [RCV003063873]	likely benign	16	1361953	1361953	Human		name
405172290	CV2864434	single nucleotide variant	NM_032520.5(GNPTG):c.330G>A (p.Glu110=)	not provided [RCV003542261]	likely benign	16	1362050	1362050	Human		name
405175882	CV2864557	single nucleotide variant	NM_032520.5(GNPTG):c.459G>A (p.Glu153=)	not provided [RCV003542710]	likely benign	16	1362253	1362253	Human		name
405083286	CV2865047	single nucleotide variant	NM_032520.5(GNPTG):c.622T>C (p.Leu208=)	not provided [RCV003549392]	likely benign	16	1362623	1362623	Human		name
402523462	CV2867667	single nucleotide variant	NM_032520.5(GNPTG):c.792C>G (p.Thr264=)	not provided [RCV003547914]	likely benign	16	1362875	1362875	Human		name
405196324	CV2868951	deletion	NM_032520.5(GNPTG):c.202del (p.Ser68fs)	not provided [RCV003550871]	pathogenic	16	1361766	1361766	Human		name
402495931	CV2883653	single nucleotide variant	NM_032520.5(GNPTG):c.420G>A (p.Leu140=)	not provided [RCV003573390]	likely benign	16	1362214	1362214	Human		name
405136921	CV2907091	single nucleotide variant	NM_032520.5(GNPTG):c.582C>T (p.Asp194=)	not provided [RCV003560524]	likely benign	16	1362507	1362507	Human		name
405175520	CV2919310	single nucleotide variant	NM_032520.5(GNPTG):c.342C>T (p.Ala114=)	not provided [RCV003563425]	likely benign	16	1362062	1362062	Human		name
402507918	CV2924402	single nucleotide variant	NM_032520.5(GNPTG):c.442C>T (p.Leu148=)	not provided [RCV003574646]	likely benign	16	1362236	1362236	Human		name
405193959	CV2925639	single nucleotide variant	NM_032520.5(GNPTG):c.816G>A (p.Arg272=)	not provided [RCV003565172]	likely benign	16	1362899	1362899	Human		name
405005811	CV2929504	single nucleotide variant	NM_032520.5(GNPTG):c.549C>T (p.Ala183=)	not provided [RCV003576322]	likely benign	16	1362474	1362474	Human		name
402518347	CV2936598	single nucleotide variant	NM_032520.5(GNPTG):c.507C>T (p.Cys169=)	not provided [RCV003663117]	likely benign	16	1362301	1362301	Human		name
405064815	CV2939944	single nucleotide variant	NM_032520.5(GNPTG):c.657A>G (p.Leu219=)	not provided [RCV003659049]	likely benign	16	1362658	1362658	Human		name
405169313	CV2951140	single nucleotide variant	NM_032520.5(GNPTG):c.762G>A (p.Lys254=)	not provided [RCV003675288]	likely benign	16	1362845	1362845	Human		name
405180669	CV2956265	single nucleotide variant	NM_032520.5(GNPTG):c.474C>T (p.Val158=)	not provided [RCV003676233]	likely benign	16	1362268	1362268	Human		name
405142589	CV2958840	single nucleotide variant	NM_032520.5(GNPTG):c.780A>G (p.Lys260=)	not provided [RCV003673366]	likely benign	16	1362863	1362863	Human		name
405192495	CV2965071	single nucleotide variant	NM_032520.5(GNPTG):c.513C>G (p.Pro171=)	not provided [RCV003677334]	likely benign	16	1362307	1362307	Human		name
405245300	CV2969075	single nucleotide variant	NM_032520.5(GNPTG):c.537C>G (p.Thr179=)	not provided [RCV003685117]	likely benign	16	1362462	1362462	Human		name
402509912	CV2994731	single nucleotide variant	NM_032520.5(GNPTG):c.777G>C (p.Leu259=)	not provided [RCV003689461]	likely benign	16	1362860	1362860	Human		name
402497760	CV3015784	single nucleotide variant	NM_032520.5(GNPTG):c.465C>T (p.Ser155=)	not provided [RCV003688181]	likely benign	16	1362259	1362259	Human		name
405185763	CV3040437	single nucleotide variant	NM_032520.5(GNPTG):c.523C>T (p.Leu175=)	not provided [RCV003705999]	likely benign	16	1362317	1362317	Human		name
405125720	CV3043434	single nucleotide variant	NM_032520.5(GNPTG):c.456C>A (p.Ser152=)	not provided [RCV003724266]	likely benign	16	1362250	1362250	Human		name
405223584	CV3061352	single nucleotide variant	NM_032520.5(GNPTG):c.418C>T (p.Leu140=)	not provided [RCV003733686]	likely benign	16	1362212	1362212	Human		name
405153038	CV3068537	single nucleotide variant	NM_032520.5(GNPTG):c.675T>C (p.Asn225=)	not provided [RCV003726556]	likely benign	16	1362676	1362676	Human		name
405188360	CV3069108	single nucleotide variant	NM_032520.5(GNPTG):c.567C>T (p.Asp189=)	not provided [RCV003729485]	likely benign	16	1362492	1362492	Human		name
405236278	CV3076433	single nucleotide variant	NM_032520.5(GNPTG):c.693G>A (p.Glu231=)	not provided [RCV003735960]	likely benign	16	1362694	1362694	Human		name
405236584	CV3076659	single nucleotide variant	NM_032520.5(GNPTG):c.912T>C (p.Ser304=)	not provided [RCV003736007]	likely benign	16	1363085	1363085	Human		name
405149881	CV3123282	single nucleotide variant	NM_032520.5(GNPTG):c.736A>C (p.Arg246=)	not provided [RCV003817515]	likely benign	16	1362737	1362737	Human		name
405183873	CV3124114	single nucleotide variant	NM_032520.5(GNPTG):c.720G>A (p.Glu240=)	not provided [RCV003820310]	likely benign	16	1362721	1362721	Human		name
405044399	CV3150307	single nucleotide variant	NM_032520.5(GNPTG):c.423G>C (p.Ala141=)	not provided [RCV003849101]	likely benign	16	1362217	1362217	Human		name
405074730	CV3156099	duplication	NM_032520.5(GNPTG):c.187dup (p.His63fs)	not provided [RCV003851157]	pathogenic	16	1361750	1361751	Human		name
405220401	CV3157759	single nucleotide variant	NM_032520.5(GNPTG):c.732C>T (p.Asn244=)	not provided [RCV003863451]	likely benign	16	1362733	1362733	Human		name
405235730	CV3168592	single nucleotide variant	NM_032520.5(GNPTG):c.651C>G (p.Gly217=)	not provided [RCV003866066]	likely benign	16	1362652	1362652	Human		name
402502790	CV3181126	single nucleotide variant	NM_032520.5(GNPTG):c.714G>A (p.Gly238=)	not provided [RCV003878143]	likely benign	16	1362715	1362715	Human		name
11624424	CV333718	single nucleotide variant	NM_032520.5(GNPTG):c.525A>C (p.Leu175=)	GNPTG-mucolipidosis [RCV000386104]\|not provided [RCV001068117]	uncertain significance	16	1362319	1362319	Human	1	name , trait
11626149	CV340473	single nucleotide variant	NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg)	GNPTG-mucolipidosis [RCV000407474]\|GNPTG-related disorder [RCV003910204]\|not provided [RCV000675968]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1352116	1352116	Human	1	name , trait , alternate_id
11615994	CV340474	single nucleotide variant	NM_032520.5(GNPTG):c.489C>T (p.Phe163=)	GNPTG-mucolipidosis [RCV000290708]\|not provided [RCV000974327]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1362283	1362283	Human	1	name , trait
11617204	CV340480	single nucleotide variant	NM_032520.5(GNPTG):c.798C>T (p.His266=)	GNPTG-mucolipidosis [RCV000301931]\|not provided [RCV001485670]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1362881	1362881	Human	1	name , trait
11621709	CV341864	single nucleotide variant	NM_032520.5(GNPTG):c.702T>C (p.Pro234=)	GNPTG-mucolipidosis [RCV000351383]\|not provided [RCV000916738]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1362703	1362703	Human	1	name , trait
597905939	CV3738668	single nucleotide variant	NM_032520.5(GNPTG):c.552G>A (p.Leu184=)	not provided [RCV005072902]	likely benign	16	1362477	1362477	Human		name
597955690	CV3754458	single nucleotide variant	NM_032520.5(GNPTG):c.55C>T (p.Pro19Ser)	not provided [RCV005080308]	uncertain significance	16	1352104	1352104	Human		name
597837317	CV3761481	single nucleotide variant	NM_032520.5(GNPTG):c.861C>T (p.Pro287=)	not provided [RCV005085852]	likely benign	16	1363034	1363034	Human		name
597878567	CV3776179	single nucleotide variant	NM_032520.5(GNPTG):c.819C>G (p.Pro273=)	not provided [RCV005123707]	likely benign	16	1362902	1362902	Human		name
597903817	CV3784540	single nucleotide variant	NM_032520.5(GNPTG):c.498C>T (p.Pro166=)	not provided [RCV005127591]	likely benign	16	1362292	1362292	Human		name
597916210	CV3814664	single nucleotide variant	NM_032520.5(GNPTG):c.342C>G (p.Ala114=)	not provided [RCV005154979]	likely benign	16	1362062	1362062	Human		name
597921653	CV3843117	single nucleotide variant	NM_032520.5(GNPTG):c.681C>T (p.Pro227=)	not provided [RCV005184409]	likely benign	16	1362682	1362682	Human		name
597872979	CV3859182	single nucleotide variant	NM_032520.5(GNPTG):c.738G>A (p.Arg246=)	not provided [RCV005197771]	likely benign	16	1362739	1362739	Human		name
13786807	CV547672	single nucleotide variant	NM_032520.5(GNPTG):c.74C>G (p.Ala25Gly)	GNPTG-mucolipidosis [RCV000664475]\|not provided [RCV002530627]	uncertain significance	16	1352123	1352123	Human	1	name , trait
13787922	CV547673	single nucleotide variant	NM_032520.5(GNPTG):c.93G>C (p.Glu31Asp)	GNPTG-mucolipidosis [RCV000665104]\|not provided [RCV000891925]	likely benign\|uncertain significance	16	1352142	1352142	Human	1	name , trait
13788343	CV547719	single nucleotide variant	NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter)	GNPTG-mucolipidosis [RCV000673912]\|not provided [RCV000804527]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	1351994	1351994	Human	1	name , trait
15175262	CV714735	single nucleotide variant	NM_032520.5(GNPTG):c.486G>A (p.Thr162=)	GNPTG-mucolipidosis [RCV001278360]\|not provided [RCV000972902]	likely benign	16	1362280	1362280	Human	1	name , trait
15195351	CV726425	single nucleotide variant	NM_032520.5(GNPTG):c.510C>T (p.His170=)	GNPTG-mucolipidosis [RCV001119620]\|not provided [RCV000889480]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1362304	1362304	Human	1	name , trait
15141595	CV739950	single nucleotide variant	NM_032520.5(GNPTG):c.339C>A (p.Ile113=)	GNPTG-mucolipidosis [RCV001273755]\|not provided [RCV000899523]	likely benign\|uncertain significance	16	1362059	1362059	Human	1	name , trait
15159347	CV739951	single nucleotide variant	NM_032520.5(GNPTG):c.603C>T (p.Thr201=)	GNPTG-mucolipidosis [RCV001273761]\|GNPTG-related disorder [RCV003968274]\|not provided [RCV000902917]	likely benign\|uncertain significance	16	1362528	1362528	Human	1	name , trait , alternate_id
15167383	CV754890	single nucleotide variant	NM_032520.5(GNPTG):c.360C>A (p.Gly120=)	not provided [RCV000927077]	likely benign	16	1362080	1362080	Human		name
15198391	CV754892	single nucleotide variant	NM_032520.5(GNPTG):c.516C>T (p.His172=)	not provided [RCV000912245]	likely benign	16	1362310	1362310	Human		name
15114940	CV754893	single nucleotide variant	NM_032520.5(GNPTG):c.597G>C (p.Leu199=)	GNPTG-mucolipidosis [RCV001273760]\|not provided [RCV000917369]	likely benign\|uncertain significance	16	1362522	1362522	Human	1	name , trait
15202888	CV754894	single nucleotide variant	NM_032520.5(GNPTG):c.597G>T (p.Leu199=)	not provided [RCV000913597]	likely benign	16	1362522	1362522	Human		name
15138145	CV754895	single nucleotide variant	NM_032520.5(GNPTG):c.744T>G (p.Ala248=)	not provided [RCV000921284]	likely benign	16	1362827	1362827	Human		name
15203290	CV754896	single nucleotide variant	NM_032520.5(GNPTG):c.765G>A (p.Glu255=)	GNPTG-mucolipidosis [RCV001832060]\|not provided [RCV000913833]	likely benign	16	1362848	1362848	Human	1	name , trait
15202020	CV754897	single nucleotide variant	NM_032520.5(GNPTG):c.901C>T (p.Leu301=)	GNPTG-mucolipidosis [RCV001274307]\|not provided [RCV000913314]	likely benign\|uncertain significance	16	1363074	1363074	Human	1	name , trait
15152074	CV754898	single nucleotide variant	NM_032520.5(GNPTG):c.903G>A (p.Leu301=)	GNPTG-mucolipidosis [RCV001274308]\|GNPTG-related disorder [RCV003903033]\|not provided [RCV000923801]	likely benign\|uncertain significance	16	1363076	1363076	Human	1	name , trait , alternate_id
15182047	CV770542	single nucleotide variant	NM_032520.5(GNPTG):c.327C>T (p.His109=)	not provided [RCV000930272]	likely benign	16	1362047	1362047	Human		name
15140364	CV770543	single nucleotide variant	NM_032520.5(GNPTG):c.339C>T (p.Ile113=)	GNPTG-mucolipidosis [RCV001273756]\|GNPTG-related disorder [RCV003913192]\|not provided [RCV000943705]	likely benign\|uncertain significance	16	1362059	1362059	Human	1	name , trait , alternate_id
15138839	CV770544	single nucleotide variant	NM_032520.5(GNPTG):c.477C>T (p.Tyr159=)	GNPTG-mucolipidosis [RCV001273759]\|not provided [RCV000943459]	benign\|likely benign	16	1362271	1362271	Human	1	name , trait
15141465	CV770545	single nucleotide variant	NM_032520.5(GNPTG):c.537C>A (p.Thr179=)	not provided [RCV000943900]	likely benign	16	1362462	1362462	Human		name
15131597	CV770546	single nucleotide variant	NM_032520.5(GNPTG):c.642G>A (p.Glu214=)	GNPTG-mucolipidosis [RCV001273763]\|not provided [RCV000942251]	likely benign\|uncertain significance	16	1362643	1362643	Human	1	name , trait
15100649	CV770547	single nucleotide variant	NM_032520.5(GNPTG):c.684C>G (p.Thr228=)	GNPTG-mucolipidosis [RCV001273766]\|GNPTG-related disorder [RCV003960524]\|not provided [RCV000936662]	likely benign	16	1362685	1362685	Human	1	name , trait , alternate_id
15147220	CV770548	single nucleotide variant	NM_032520.5(GNPTG):c.834C>T (p.Asn278=)	not provided [RCV000944880]	likely benign	16	1363007	1363007	Human		name
15105586	CV785133	single nucleotide variant	NM_032520.5(GNPTG):c.372G>A (p.Arg124=)	not provided [RCV000976465]	likely benign	16	1362092	1362092	Human		name
15102822	CV785134	single nucleotide variant	NM_032520.5(GNPTG):c.423G>A (p.Ala141=)	not provided [RCV000975885]	likely benign	16	1362217	1362217	Human		name
15111304	CV785135	single nucleotide variant	NM_032520.5(GNPTG):c.588C>T (p.Ala196=)	not provided [RCV000977609]	likely benign	16	1362513	1362513	Human		name
15119062	CV785136	single nucleotide variant	NM_032520.5(GNPTG):c.660G>A (p.Lys220=)	GNPTG-mucolipidosis [RCV001273764]\|not provided [RCV000979056]	likely benign\|uncertain significance	16	1362661	1362661	Human	1	name , trait
15141794	CV785137	single nucleotide variant	NM_032520.5(GNPTG):c.768C>A (p.Ile256=)	not provided [RCV000983042]	likely benign	16	1362851	1362851	Human		name
8623912	CV78999	single nucleotide variant	NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu)	GNPTG-mucolipidosis [RCV000665994]\|not provided [RCV000058937]\|not specified [RCV003488372]	uncertain significance\|not provided	16	1352123	1352123	Human	1	name , trait
26898148	CV843070	single nucleotide variant	NM_032520.5(GNPTG):c.32T>C (p.Leu11Pro)	GNPTG-mucolipidosis [RCV001273749]\|not provided [RCV001066324]	uncertain significance	16	1351997	1351997	Human	1	name , trait
26888251	CV843071	single nucleotide variant	NM_032520.5(GNPTG):c.58G>A (p.Ala20Thr)	GNPTG-mucolipidosis [RCV001832518]\|not provided [RCV001057254]	uncertain significance	16	1352107	1352107	Human	1	name , trait
28893228	CV874627	single nucleotide variant	NM_032520.5(GNPTG):c.837G>A (p.Leu279=)	GNPTG-mucolipidosis [RCV001121614]\|not provided [RCV001243901]	likely benign\|uncertain significance	16	1363010	1363010	Human	1	name , trait
40905212	CV979753	single nucleotide variant	NM_032520.5(GNPTG):c.94G>A (p.Glu32Lys)	GNPTG-mucolipidosis [RCV001278353]\|not provided [RCV001880257]	uncertain significance	16	1352143	1352143	Human	1	name , trait
40905217	CV979758	single nucleotide variant	NM_032520.5(GNPTG):c.318C>T (p.Gly106=)	GNPTG-mucolipidosis [RCV001278358]\|not provided [RCV001880258]	uncertain significance	16	1362038	1362038	Human	1	name , trait
126772823	CV1011827	single nucleotide variant	NM_032520.5(GNPTG):c.264C>A (p.Asn88Lys)	not provided [RCV001323977]	uncertain significance	16	1361902	1361902	Human		name
126737432	CV1032328	single nucleotide variant	NM_032520.5(GNPTG):c.119A>G (p.Asn40Ser)	GNPTG-mucolipidosis [RCV001825963]\|not provided [RCV001350352]	uncertain significance	16	1352247	1352247	Human	1	name , trait
126771181	CV1032330	single nucleotide variant	NM_032520.5(GNPTG):c.263A>G (p.Asn88Ser)	GNPTG-mucolipidosis [RCV001831110]\|not provided [RCV001344893]	uncertain significance	16	1361901	1361901	Human	1	name , trait
126772884	CV1032334	duplication	NM_032520.5(GNPTG):c.843dup (p.His284fs)	GNPTG-mucolipidosis [RCV001825918]\|not provided [RCV001345875]	uncertain significance	16	1363015	1363016	Human	1	name , trait
127257444	CV1063499	deletion	NM_032520.5(GNPTG):c.514del (p.His172fs)	not provided [RCV001386750]	pathogenic	16	1362304	1362304	Human		name
127247886	CV1063500	duplication	NM_032520.5(GNPTG):c.665dup (p.Glu223fs)	not provided [RCV001384810]	pathogenic	16	1362662	1362663	Human		name
127263628	CV1063501	deletion	NM_032520.5(GNPTG):c.717del (p.Phe239fs)	not provided [RCV001388001]	pathogenic	16	1362716	1362716	Human		name
151798473	CV1352760	single nucleotide variant	NM_032520.5(GNPTG):c.181C>A (p.Pro61Thr)	not provided [RCV001877156]	uncertain significance	16	1361745	1361745	Human		name
151838403	CV1383215	single nucleotide variant	NM_032520.5(GNPTG):c.112G>A (p.Val38Met)	Inborn genetic diseases [RCV004043525]\|not provided [RCV001921240]	uncertain significance	16	1352240	1352240	Human	1	name
151785543	CV1397152	single nucleotide variant	NM_032520.5(GNPTG):c.246G>C (p.Glu82Asp)	not provided [RCV001930857]	uncertain significance	16	1361884	1361884	Human		name
151746949	CV1398426	single nucleotide variant	NM_032520.5(GNPTG):c.179G>A (p.Gly60Glu)	GNPTG-mucolipidosis [RCV003313259]\|not provided [RCV002042837]	uncertain significance	16	1361743	1361743	Human	1	name , trait
151741869	CV1404925	single nucleotide variant	NM_032520.5(GNPTG):c.133C>T (p.Gln45Ter)	not provided [RCV001947176]	pathogenic	16	1352261	1352261	Human		name
151802426	CV1404963	single nucleotide variant	NM_032520.5(GNPTG):c.294G>A (p.Trp98Ter)	not provided [RCV001932435]	pathogenic	16	1361932	1361932	Human		name
151731209	CV1420741	single nucleotide variant	NM_032520.5(GNPTG):c.260A>G (p.His87Arg)	not provided [RCV002021315]	uncertain significance	16	1361898	1361898	Human		name
151867810	CV1429605	duplication	NM_032520.5(GNPTG):c.659dup (p.Thr221fs)	not provided [RCV002035277]	pathogenic	16	1362657	1362658	Human		name
151888184	CV1434495	single nucleotide variant	NM_032520.5(GNPTG):c.203C>A (p.Ser68Ter)	GNPTG-mucolipidosis [RCV004776305]\|not provided [RCV001887910]	pathogenic	16	1361767	1361767	Human	1	name , trait
151791244	CV1436222	single nucleotide variant	NM_032520.5(GNPTG):c.286T>C (p.Phe96Leu)	not provided [RCV001990099]	uncertain significance	16	1361924	1361924	Human		name
151759141	CV1443758	deletion	NM_032520.5(GNPTG):c.869del (p.Lys290fs)	not provided [RCV001873033]	uncertain significance	16	1363041	1363041	Human		name
151790977	CV1515423	single nucleotide variant	NM_032520.5(GNPTG):c.223G>C (p.Val75Leu)	not provided [RCV002027223]	uncertain significance	16	1361787	1361787	Human		name
155736465	CV1782167	single nucleotide variant	NM_032520.5(GNPTG):c.238A>T (p.Lys80Ter)	GNPTG-mucolipidosis [RCV002309908]	likely pathogenic	16	1361876	1361876	Human	1	name , trait
155737046	CV1784202	single nucleotide variant	NM_032520.5(GNPTG):c.237C>A (p.Tyr79Ter)	GNPTG-mucolipidosis [RCV002310359]	likely pathogenic	16	1361875	1361875	Human	1	name , trait
156350144	CV1886084	single nucleotide variant	NM_032520.5(GNPTG):c.290G>A (p.Arg97His)	Inborn genetic diseases [RCV003161727]\|not provided [RCV003090909]	uncertain significance	16	1361928	1361928	Human	1	name
156197137	CV1889802	duplication	NM_032520.5(GNPTG):c.780dup (p.Gly261fs)	not provided [RCV003084079]	uncertain significance	16	1362860	1362861	Human		name
156312573	CV1896425	single nucleotide variant	NM_032520.5(GNPTG):c.130C>A (p.Pro44Thr)	not provided [RCV003088536]	uncertain significance	16	1352258	1352258	Human		name
156358735	CV1897862	single nucleotide variant	NM_032520.5(GNPTG):c.176C>G (p.Ser59Cys)	not provided [RCV002602347]	uncertain significance	16	1352304	1352304	Human		name
156357643	CV1976896	single nucleotide variant	NM_032520.5(GNPTG):c.265G>A (p.Val89Met)	not provided [RCV002581499]	uncertain significance	16	1361903	1361903	Human		name
156050117	CV2060015	single nucleotide variant	NM_032520.5(GNPTG):c.290G>C (p.Arg97Pro)	Inborn genetic diseases [RCV002796739]\|not provided [RCV002796738]	uncertain significance	16	1361928	1361928	Human	1	name
156300247	CV2069876	duplication	NM_032520.5(GNPTG):c.807dup (p.Tyr270fs)	not provided [RCV002833586]	uncertain significance	16	1362886	1362887	Human		name
156001704	CV2074657	single nucleotide variant	NM_032520.5(GNPTG):c.109G>T (p.Gly37Trp)	not provided [RCV002843435]	uncertain significance	16	1352158	1352158	Human		name
156016771	CV2120597	single nucleotide variant	NM_032520.5(GNPTG):c.184G>A (p.Val62Met)	not provided [RCV002975945]	uncertain significance	16	1361748	1361748	Human		name
156073485	CV2172772	deletion	NM_032520.5(GNPTG):c.300del (p.Tyr101fs)	not provided [RCV003053790]	pathogenic	16	1361937	1361937	Human		name
156213191	CV2176407	deletion	NM_032520.5(GNPTG):c.701del (p.Pro234fs)	not provided [RCV003024887]	pathogenic	16	1362701	1362701	Human		name
156168920	CV2190200	single nucleotide variant	NM_032520.5(GNPTG):c.242A>C (p.Tyr81Ser)	not provided [RCV003040969]	uncertain significance	16	1361880	1361880	Human		name
155997005	CV2288570	single nucleotide variant	NM_032520.5(GNPTG):c.182C>G (p.Pro61Arg)	Inborn genetic diseases [RCV002882932]	uncertain significance	16	1361746	1361746	Human	1	name
401770745	CV2726247	single nucleotide variant	NM_032520.5(GNPTG):c.206G>C (p.Gly69Ala)	Inborn genetic diseases [RCV003304132]	uncertain significance	16	1361770	1361770	Human	1	name
401830854	CV2748478	deletion	NM_032520.5(GNPTG):c.583del (p.Leu195fs)	GNPTG-mucolipidosis [RCV003330126]	likely pathogenic	16	1362507	1362507	Human	1	name , trait
401866908	CV2748775	single nucleotide variant	NM_032520.5(GNPTG):c.277G>A (p.Glu93Lys)	not specified [RCV003331597]	uncertain significance	16	1361915	1361915	Human		name
402487552	CV2861757	deletion	NM_032520.5(GNPTG):c.665del (p.Pro222fs)	not provided [RCV003544628]	pathogenic	16	1362663	1362663	Human		name
405070065	CV2933304	duplication	NM_032520.5(GNPTG):c.15_25dup (p.Leu9fs)	not provided [RCV003581060]	pathogenic	16	1351979	1351980	Human		name
405174168	CV3026891	duplication	NM_032520.5(GNPTG):c.608dup (p.His205fs)	not provided [RCV003704891]	pathogenic	16	1362532	1362533	Human		name
405238631	CV3077833	single nucleotide variant	NM_032520.5(GNPTG):c.158G>A (p.Arg53Lys)	not provided [RCV003736274]	uncertain significance	16	1352286	1352286	Human		name
8567008	CV34565	single nucleotide variant	NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter)	GNPTG-mucolipidosis [RCV000020916]\|Retinal dystrophy [RCV004814911]\|not provided [RCV001699180]	pathogenic	16	1361760	1361760	Human	3	name , trait
8567012	CV34569	duplication	NM_032520.5(GNPTG):c.523dup (p.Leu175fs)	GNPTG-mucolipidosis [RCV000020920]	pathogenic\|not provided	16	1362316	1362317	Human	1	name , trait
8567018	CV34575	deletion	NM_032520.5(GNPTG):c.639del (p.Phe213fs)	GNPTG-mucolipidosis [RCV000020926]	pathogenic	16	1362636	1362636	Human	1	name , trait
597680562	CV3678327	single nucleotide variant	NM_032520.5(GNPTG):c.141T>G (p.Ser47Arg)	Inborn genetic diseases [RCV004982680]	uncertain significance	16	1352269	1352269	Human	1	name
597741264	CV3711360	duplication	NM_032520.5(GNPTG):c.514dup (p.His172fs)	GNPTG-mucolipidosis [RCV005013796]	pathogenic	16	1362303	1362304	Human	1	name , trait
597927353	CV3783449	deletion	NM_032520.5(GNPTG):c.533del (p.Pro178fs)	not provided [RCV005116136]	pathogenic	16	1362456	1362456	Human		name
597868452	CV3803333	deletion	NM_032520.5(GNPTG):c.521del (p.Leu174fs)	not provided [RCV005147930]	pathogenic	16	1362314	1362314	Human		name
597836867	CV3828479	deletion	NM_032520.5(GNPTG):c.551del (p.Leu184fs)	not provided [RCV005171372]	pathogenic	16	1362476	1362476	Human		name
13446362	CV437995	single nucleotide variant	NM_032520.5(GNPTG):c.293G>A (p.Trp98Ter)	GNPTG-mucolipidosis [RCV004776288]\|not provided [RCV000513614]	pathogenic\|likely pathogenic\|uncertain significance	16	1361931	1361931	Human	1	name , trait
8570260	CV47683	deletion	NM_032520.5(GNPTG):c.445del (p.Ala149fs)	GNPTG-mucolipidosis [RCV000032347]	pathogenic	16	1362238	1362238	Human	1	name , trait
13786586	CV547682	deletion	NM_032520.5(GNPTG):c.685del (p.Gln229fs)	GNPTG-mucolipidosis [RCV000672939]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	1362684	1362684	Human	1	name , trait
13792311	CV547990	duplication	NM_032520.5(GNPTG):c.607dup (p.Gln203fs)	GNPTG-mucolipidosis [RCV000668554]\|Rod-cone dystrophy [RCV003106016]\|not provided [RCV001055708]	pathogenic\|likely pathogenic	16	1362526	1362527	Human	4	name , trait
13792271	CV547993	duplication	NM_032520.5(GNPTG):c.750dup (p.Glu251fs)	GNPTG-mucolipidosis [RCV000668501]\|not provided [RCV002531201]	uncertain significance	16	1362830	1362831	Human	1	name , trait
13784450	CV548410	microsatellite	NM_032520.5(GNPTG):c.5CGG[1] (p.Ala3del)	GNPTG-mucolipidosis [RCV000670845]\|not provided [RCV001071856]	uncertain significance	16	1351968	1351970	Human		name , trait
26901418	CV843072	single nucleotide variant	NM_032520.5(GNPTG):c.113T>C (p.Val38Ala)	GNPTG-mucolipidosis [RCV001827451]\|not provided [RCV001068525]	uncertain significance	16	1352241	1352241	Human	1	name , trait
26897538	CV843073	single nucleotide variant	NM_032520.5(GNPTG):c.145C>T (p.Leu49Phe)	GNPTG-mucolipidosis [RCV001833640]\|not provided [RCV001065864]	uncertain significance	16	1352273	1352273	Human	1	name , trait
26918527	CV843074	single nucleotide variant	NM_032520.5(GNPTG):c.154A>G (p.Lys52Glu)	not provided [RCV001043859]	uncertain significance	16	1352282	1352282	Human		name
26918771	CV843075	single nucleotide variant	NM_032520.5(GNPTG):c.166T>A (p.Ser56Thr)	GNPTG-mucolipidosis [RCV001832421]\|Inborn genetic diseases [RCV005348275]\|not provided [RCV001044233]	uncertain significance	16	1352294	1352294	Human	2	name , trait
26914407	CV843076	single nucleotide variant	NM_032520.5(GNPTG):c.289C>T (p.Arg97Cys)	GNPTG-mucolipidosis [RCV001273754]\|not provided [RCV001037496]	uncertain significance	16	1361927	1361927	Human	1	name , trait
26901183	CV843085	deletion	NM_032520.5(GNPTG):c.714del (p.Phe239fs)	not provided [RCV001068377]	pathogenic	16	1362712	1362712	Human		name
26886213	CV843086	deletion	NM_032520.5(GNPTG):c.772del (p.Arg258fs)	not provided [RCV001054649]	pathogenic\|uncertain significance	16	1362852	1362852	Human		name
28891844	CV874622	single nucleotide variant	NM_032520.5(GNPTG):c.160G>A (p.Asp54Asn)	GNPTG-mucolipidosis [RCV001121128]	uncertain significance	16	1352288	1352288	Human	1	name , trait
38463229	CV937214	single nucleotide variant	NM_032520.5(GNPTG):c.295A>G (p.Asn99Asp)	GNPTG-mucolipidosis [RCV001833860]\|Inborn genetic diseases [RCV004033852]\|not provided [RCV001212319]	uncertain significance	16	1361933	1361933	Human	2	name , trait
38466823	CV949160	single nucleotide variant	NM_032520.5(GNPTG):c.271C>T (p.Gln91Ter)	not provided [RCV001230330]	pathogenic	16	1361909	1361909	Human		name
38491015	CV957615	single nucleotide variant	NM_032520.5(GNPTG):c.130C>G (p.Pro44Ala)	GNPTG-mucolipidosis [RCV001834076]\|Inborn genetic diseases [RCV004034600]\|not provided [RCV001239187]	uncertain significance	16	1352258	1352258	Human	2	name , trait
38471551	CV957616	single nucleotide variant	NM_032520.5(GNPTG):c.161A>T (p.Asp54Val)	GNPTG-mucolipidosis [RCV001835342]\|GNPTG-related disorder [RCV004758152]\|Retinal dystrophy [RCV004814019]\|not provided [RCV001248677]	likely benign\|uncertain significance	16	1352289	1352289	Human	3	name , trait , alternate_id
38492078	CV957617	single nucleotide variant	NM_032520.5(GNPTG):c.233C>T (p.Thr78Met)	GNPTG-mucolipidosis [RCV001828944]\|not provided [RCV001239883]	uncertain significance	16	1361797	1361797	Human	1	name , trait
38500042	CV957618	single nucleotide variant	NM_032520.5(GNPTG):c.254C>T (p.Pro85Leu)	GNPTG-mucolipidosis [RCV001835241]\|not provided [RCV001245449]\|not specified [RCV005057147]	uncertain significance	16	1361892	1361892	Human	1	name , trait
40905214	CV979755	single nucleotide variant	NM_032520.5(GNPTG):c.203C>T (p.Ser68Leu)	GNPTG-mucolipidosis [RCV001278355]\|not provided [RCV002542893]	uncertain significance	16	1361767	1361767	Human	1	name , trait
40905216	CV979757	single nucleotide variant	NM_032520.5(GNPTG):c.269C>T (p.Thr90Ile)	GNPTG-mucolipidosis [RCV001278357]	uncertain significance	16	1361907	1361907	Human	1	name , trait
126727070	CV996578	single nucleotide variant	NM_032520.5(GNPTG):c.218G>A (p.Ser73Asn)	GNPTG-mucolipidosis [RCV003132388]\|not provided [RCV001303068]	uncertain significance	16	1361782	1361782	Human	1	name , trait
126726554	CV996580	single nucleotide variant	NM_032520.5(GNPTG):c.276C>G (p.His92Gln)	GNPTG-mucolipidosis [RCV001835459]\|not provided [RCV001302926]	uncertain significance	16	1361914	1361914	Human	1	name , trait
126754634	CV1011828	single nucleotide variant	NM_032520.5(GNPTG):c.421G>A (p.Ala141Thr)	GNPTG-mucolipidosis [RCV001831033]\|not provided [RCV001327549]	uncertain significance	16	1362215	1362215	Human	1	name , trait
126754940	CV1011829	single nucleotide variant	NM_032520.5(GNPTG):c.478G>A (p.Ala160Thr)	GNPTG-mucolipidosis [RCV001836319]\|not provided [RCV001327624]	uncertain significance	16	1362272	1362272	Human	1	name , trait
126735000	CV1011830	single nucleotide variant	NM_032520.5(GNPTG):c.641A>G (p.Glu214Gly)	not provided [RCV001313661]	uncertain significance	16	1362642	1362642	Human		name
126774104	CV1032331	single nucleotide variant	NM_032520.5(GNPTG):c.439C>T (p.Arg147Trp)	GNPTG-mucolipidosis [RCV001831129]\|not provided [RCV001346838]	uncertain significance	16	1362233	1362233	Human	1	name , trait
126745270	CV1032332	single nucleotide variant	NM_032520.5(GNPTG):c.494C>G (p.Thr165Ser)	not provided [RCV001351386]	uncertain significance	16	1362288	1362288	Human		name
126773687	CV1032333	single nucleotide variant	NM_032520.5(GNPTG):c.631A>T (p.Thr211Ser)	GNPTG-mucolipidosis [RCV001836342]\|Inborn genetic diseases [RCV002547058]\|not provided [RCV001346359]	uncertain significance	16	1362632	1362632	Human	2	name , trait
126919386	CV1049309	single nucleotide variant	NM_032520.5(GNPTG):c.327C>G (p.His109Gln)	GNPTG-mucolipidosis [RCV001826113]\|not provided [RCV001373200]	uncertain significance	16	1362047	1362047	Human	1	name , trait
126915517	CV1049310	single nucleotide variant	NM_032520.5(GNPTG):c.490G>A (p.Glu164Lys)	not provided [RCV001360036]	uncertain significance	16	1362284	1362284	Human		name
126918466	CV1049312	single nucleotide variant	NM_032520.5(GNPTG):c.532C>T (p.Pro178Ser)	GNPTG-mucolipidosis [RCV001836378]\|not provided [RCV001372674]	uncertain significance	16	1362457	1362457	Human	1	name , trait
126914603	CV1049313	single nucleotide variant	NM_032520.5(GNPTG):c.591T>G (p.Asp197Glu)	GNPTG-mucolipidosis [RCV001826089]\|not provided [RCV001370527]	uncertain significance	16	1362516	1362516	Human	1	name , trait
126910373	CV1049314	single nucleotide variant	NM_032520.5(GNPTG):c.614A>G (p.His205Arg)	not provided [RCV001368850]	uncertain significance	16	1362615	1362615	Human		name
126908909	CV1049315	single nucleotide variant	NM_032520.5(GNPTG):c.683C>T (p.Thr228Ile)	GNPTG-mucolipidosis [RCV001826069]\|Inborn genetic diseases [RCV003284279]\|not provided [RCV001368148]	uncertain significance	16	1362684	1362684	Human	2	name , trait
126915164	CV1049317	single nucleotide variant	NM_032520.5(GNPTG):c.823G>C (p.Glu275Gln)	GNPTG-mucolipidosis [RCV001826093]\|not provided [RCV001370754]	uncertain significance	16	1362906	1362906	Human	1	name , trait
127266178	CV1063496	deletion	NM_032520.5(GNPTG):c.89_90del (p.Val30fs)	not provided [RCV001388650]	pathogenic	16	1352137	1352138	Human		name
127240644	CV1063497	single nucleotide variant	NM_032520.5(GNPTG):c.366G>A (p.Trp122Ter)	not provided [RCV001383496]	pathogenic	16	1362086	1362086	Human		name
127266436	CV1063502	single nucleotide variant	NM_032520.5(GNPTG):c.739A>T (p.Lys247Ter)	GNPTG-mucolipidosis [RCV004770133]\|not provided [RCV001381705]	pathogenic	16	1362740	1362740	Human	1	name , trait
151816436	CV1342196	single nucleotide variant	NM_032520.5(GNPTG):c.757T>C (p.Ser253Pro)	not provided [RCV001975302]	uncertain significance	16	1362840	1362840	Human		name
151776188	CV1342565	single nucleotide variant	NM_032520.5(GNPTG):c.874C>T (p.Pro292Ser)	not provided [RCV001988705]	uncertain significance	16	1363047	1363047	Human		name
151840131	CV1345803	single nucleotide variant	NM_032520.5(GNPTG):c.623T>G (p.Leu208Trp)	not provided [RCV001902738]	uncertain significance	16	1362624	1362624	Human		name
151823582	CV1351478	single nucleotide variant	NM_032520.5(GNPTG):c.607C>T (p.Gln203Ter)	not provided [RCV001993021]	pathogenic	16	1362532	1362532	Human		name
151726521	CV1352906	single nucleotide variant	NM_032520.5(GNPTG):c.298G>A (p.Ala100Thr)	not provided [RCV001891787]	uncertain significance	16	1361936	1361936	Human		name
151863229	CV1353619	single nucleotide variant	NM_032520.5(GNPTG):c.589G>A (p.Asp197Asn)	not provided [RCV001924278]	uncertain significance	16	1362514	1362514	Human		name
151736837	CV1354912	single nucleotide variant	NM_032520.5(GNPTG):c.755T>C (p.Leu252Pro)	not provided [RCV001892854]	uncertain significance	16	1362838	1362838	Human		name
151879235	CV1359839	single nucleotide variant	NM_032520.5(GNPTG):c.556C>T (p.Arg186Trp)	not provided [RCV002036641]	uncertain significance	16	1362481	1362481	Human		name
151800792	CV1365830	single nucleotide variant	NM_032520.5(GNPTG):c.904C>T (p.Arg302Cys)	not provided [RCV001917697]	uncertain significance	16	1363077	1363077	Human		name
151770345	CV1366203	single nucleotide variant	NM_032520.5(GNPTG):c.799G>A (p.Gly267Ser)	not provided [RCV001929461]	uncertain significance	16	1362882	1362882	Human		name
151751430	CV1370749	single nucleotide variant	NM_032520.5(GNPTG):c.331T>C (p.Trp111Arg)	not provided [RCV001872288]	uncertain significance	16	1362051	1362051	Human		name
151790438	CV1373501	single nucleotide variant	NM_032520.5(GNPTG):c.685C>T (p.Gln229Ter)	not provided [RCV001898126]	pathogenic	16	1362686	1362686	Human		name
151751063	CV1373913	single nucleotide variant	NM_032520.5(GNPTG):c.886C>T (p.Arg296Trp)	not provided [RCV001948142]	uncertain significance	16	1363059	1363059	Human		name
151876917	CV1390322	single nucleotide variant	NM_032520.5(GNPTG):c.827C>T (p.Thr276Ile)	not provided [RCV001940510]	uncertain significance	16	1363000	1363000	Human		name
151792046	CV1399224	single nucleotide variant	NM_032520.5(GNPTG):c.786G>C (p.Leu262Phe)	not provided [RCV001898272]	uncertain significance	16	1362869	1362869	Human		name
151831098	CV1405549	single nucleotide variant	NM_032520.5(GNPTG):c.853G>A (p.Glu285Lys)	not provided [RCV001901820]	uncertain significance	16	1363026	1363026	Human		name
151726916	CV1409802	single nucleotide variant	NM_032520.5(GNPTG):c.356C>T (p.Thr119Met)	Inborn genetic diseases [RCV003382726]\|not provided [RCV001910464]	uncertain significance	16	1362076	1362076	Human	1	name
151727269	CV1409861	single nucleotide variant	NM_032520.5(GNPTG):c.605C>T (p.Pro202Leu)	not provided [RCV001910510]	uncertain significance	16	1362530	1362530	Human		name
151879882	CV1412753	single nucleotide variant	NM_032520.5(GNPTG):c.664C>G (p.Pro222Ala)	not provided [RCV001926291]	uncertain significance	16	1362665	1362665	Human		name
151802681	CV1443872	single nucleotide variant	NM_032520.5(GNPTG):c.742G>T (p.Ala248Ser)	not provided [RCV001917856]	uncertain significance	16	1362825	1362825	Human		name
151777181	CV1453998	single nucleotide variant	NM_032520.5(GNPTG):c.572T>G (p.Val191Gly)	not provided [RCV001915539]	uncertain significance	16	1362497	1362497	Human		name
151714649	CV1457775	single nucleotide variant	NM_032520.5(GNPTG):c.310A>T (p.Ile104Phe)	not provided [RCV001964983]	uncertain significance	16	1361948	1361948	Human		name
151823685	CV1466315	single nucleotide variant	NM_032520.5(GNPTG):c.818C>T (p.Pro273Leu)	not provided [RCV001879459]	uncertain significance	16	1362901	1362901	Human		name
151714721	CV1469963	single nucleotide variant	NM_032520.5(GNPTG):c.899G>A (p.Gly300Glu)	not provided [RCV001890093]	uncertain significance	16	1363072	1363072	Human		name
151880741	CV1475504	single nucleotide variant	NM_032520.5(GNPTG):c.820A>C (p.Thr274Pro)	not provided [RCV001961633]	uncertain significance	16	1362903	1362903	Human		name
151877337	CV1480907	single nucleotide variant	NM_032520.5(GNPTG):c.715T>C (p.Phe239Leu)	not provided [RCV001982068]	uncertain significance	16	1362716	1362716	Human		name
151836173	CV1489400	single nucleotide variant	NM_032520.5(GNPTG):c.787C>T (p.Leu263Phe)	not provided [RCV001902319]	uncertain significance	16	1362870	1362870	Human		name
151792661	CV1490193	single nucleotide variant	NM_032520.5(GNPTG):c.494C>T (p.Thr165Ile)	not provided [RCV001952194]	uncertain significance	16	1362288	1362288	Human		name
151720751	CV1491592	single nucleotide variant	NM_032520.5(GNPTG):c.464G>A (p.Ser155Asn)	not provided [RCV002003629]	uncertain significance	16	1362258	1362258	Human		name
151714954	CV1510594	single nucleotide variant	NM_032520.5(GNPTG):c.461C>T (p.Pro154Leu)	not provided [RCV001965044]	uncertain significance	16	1362255	1362255	Human		name
151817533	CV1511506	single nucleotide variant	NM_032520.5(GNPTG):c.707G>T (p.Ser236Ile)	not provided [RCV001954427]	uncertain significance	16	1362708	1362708	Human		name
151717015	CV1513176	single nucleotide variant	NM_032520.5(GNPTG):c.650G>A (p.Gly217Asp)	not provided [RCV001890485]	uncertain significance	16	1362651	1362651	Human		name
151765365	CV1517190	single nucleotide variant	NM_032520.5(GNPTG):c.700C>T (p.Pro234Ser)	not provided [RCV002024835]	uncertain significance	16	1362701	1362701	Human		name
152983027	CV1677871	single nucleotide variant	NM_032520.5(GNPTG):c.735C>A (p.Cys245Ter)	GNPTG-mucolipidosis [RCV002250025]	pathogenic	16	1362736	1362736	Human	1	name , trait
155735937	CV1783349	single nucleotide variant	NM_032520.5(GNPTG):c.691G>T (p.Glu231Ter)	GNPTG-mucolipidosis [RCV002309506]	likely pathogenic	16	1362692	1362692	Human	1	name , trait
8556994	CV17836	single nucleotide variant	NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter)	GNPTG-mucolipidosis [RCV000002931]\|not provided [RCV000726758]	pathogenic	16	1362053	1362053	Human	1	name , trait
8556996	CV17838	single nucleotide variant	NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)	GNPTG-mucolipidosis [RCV000002933]\|not provided [RCV001062193]	pathogenic\|likely pathogenic	16	1361954	1361954	Human	1	name , trait
156373812	CV1874961	single nucleotide variant	NM_032520.5(GNPTG):c.389G>A (p.Arg130His)	not provided [RCV003066525]	uncertain significance	16	1362109	1362109	Human		name
156280680	CV1877055	single nucleotide variant	NM_032520.5(GNPTG):c.457G>A (p.Glu153Lys)	Inborn genetic diseases [RCV004070445]\|not provided [RCV003061052]	uncertain significance	16	1362251	1362251	Human	1	name
156330902	CV1877476	single nucleotide variant	NM_032520.5(GNPTG):c.712G>A (p.Gly238Arg)	not provided [RCV003063691]	uncertain significance	16	1362713	1362713	Human		name
156372540	CV1878472	single nucleotide variant	NM_032520.5(GNPTG):c.400C>T (p.Arg134Trp)	Inborn genetic diseases [RCV004983289]\|not provided [RCV003066421]	uncertain significance	16	1362120	1362120	Human	1	name
156266056	CV1879184	single nucleotide variant	NM_032520.5(GNPTG):c.712G>T (p.Gly238Trp)	not provided [RCV003060541]	uncertain significance	16	1362713	1362713	Human		name
156355263	CV1894775	single nucleotide variant	NM_032520.5(GNPTG):c.517G>A (p.Ala173Thr)	not provided [RCV003091298]	uncertain significance	16	1362311	1362311	Human		name
156301680	CV1902126	single nucleotide variant	NM_032520.5(GNPTG):c.782G>C (p.Gly261Ala)	not provided [RCV003087959]	uncertain significance	16	1362865	1362865	Human		name
156004544	CV1906268	single nucleotide variant	NM_032520.5(GNPTG):c.382G>A (p.Ala128Thr)	not provided [RCV003098962]	uncertain significance	16	1362102	1362102	Human		name
156417925	CV1920730	single nucleotide variant	NM_032520.5(GNPTG):c.881A>G (p.Gln294Arg)	not provided [RCV002611094]	uncertain significance	16	1363054	1363054	Human		name
156060043	CV1924331	single nucleotide variant	NM_032520.5(GNPTG):c.347A>C (p.Asn116Thr)	not provided [RCV002659664]	uncertain significance	16	1362067	1362067	Human		name
156180243	CV1924438	single nucleotide variant	NM_032520.5(GNPTG):c.700C>A (p.Pro234Thr)	not provided [RCV002625016]	uncertain significance	16	1362701	1362701	Human		name
156307183	CV1924775	single nucleotide variant	NM_032520.5(GNPTG):c.905G>A (p.Arg302His)	not provided [RCV002629556]	uncertain significance	16	1363078	1363078	Human		name
156395847	CV1928089	single nucleotide variant	NM_032520.5(GNPTG):c.574G>A (p.Glu192Lys)	not provided [RCV002654901]	uncertain significance	16	1362499	1362499	Human		name
156130395	CV1933798	single nucleotide variant	NM_032520.5(GNPTG):c.701C>G (p.Pro234Arg)	not provided [RCV002640688]	uncertain significance	16	1362702	1362702	Human		name
156442348	CV1938575	single nucleotide variant	NM_032520.5(GNPTG):c.745C>T (p.His249Tyr)	not provided [RCV003112689]	uncertain significance	16	1362828	1362828	Human		name
156338002	CV1964058	single nucleotide variant	NM_032520.5(GNPTG):c.730A>C (p.Asn244His)	not provided [RCV002580347]	uncertain significance	16	1362731	1362731	Human		name
156124877	CV1969359	single nucleotide variant	NM_032520.5(GNPTG):c.812C>G (p.Thr271Arg)	Inborn genetic diseases [RCV004064616]\|not provided [RCV002593270]	uncertain significance	16	1362895	1362895	Human	1	name
156419794	CV1970644	single nucleotide variant	NM_032520.5(GNPTG):c.310A>G (p.Ile104Val)	not provided [RCV002613037]	uncertain significance	16	1361948	1361948	Human		name
156388922	CV1989930	single nucleotide variant	NM_032520.5(GNPTG):c.568C>A (p.Gln190Lys)	not provided [RCV002604497]	uncertain significance	16	1362493	1362493	Human		name
156221233	CV1995797	single nucleotide variant	NM_032520.5(GNPTG):c.613C>T (p.His205Tyr)	not provided [RCV002667235]	uncertain significance	16	1362614	1362614	Human		name
155957676	CV2010554	single nucleotide variant	NM_032520.5(GNPTG):c.718G>A (p.Glu240Lys)	not provided [RCV002686355]	uncertain significance	16	1362719	1362719	Human		name
156011568	CV2011505	single nucleotide variant	NM_032520.5(GNPTG):c.834C>G (p.Asn278Lys)	not provided [RCV002690542]	uncertain significance	16	1363007	1363007	Human		name
156075221	CV2011765	single nucleotide variant	NM_032520.5(GNPTG):c.591T>A (p.Asp197Glu)	not provided [RCV002705810]	uncertain significance	16	1362516	1362516	Human		name
156282160	CV2016395	single nucleotide variant	NM_032520.5(GNPTG):c.362T>C (p.Met121Thr)	not provided [RCV002715337]	uncertain significance	16	1362082	1362082	Human		name
156137284	CV2032772	single nucleotide variant	NM_032520.5(GNPTG):c.799G>T (p.Gly267Cys)	not provided [RCV002740774]	uncertain significance	16	1362882	1362882	Human		name
156027030	CV2048459	single nucleotide variant	NM_032520.5(GNPTG):c.340G>A (p.Ala114Thr)	not provided [RCV002795860]	uncertain significance	16	1362060	1362060	Human		name
155997826	CV2092016	single nucleotide variant	NM_032520.5(GNPTG):c.514C>T (p.His172Tyr)	not provided [RCV002908474]	uncertain significance	16	1362308	1362308	Human		name
156101906	CV2099309	single nucleotide variant	NM_032520.5(GNPTG):c.485C>T (p.Thr162Met)	not provided [RCV002913436]	uncertain significance	16	1362279	1362279	Human		name
156315148	CV2104021	single nucleotide variant	NM_032520.5(GNPTG):c.422C>T (p.Ala141Val)	not provided [RCV002937398]	uncertain significance	16	1362216	1362216	Human		name
156320974	CV2112015	single nucleotide variant	NM_032520.5(GNPTG):c.343A>C (p.Asn115His)	not provided [RCV002937748]	uncertain significance	16	1362063	1362063	Human		name
156213112	CV2114594	single nucleotide variant	NM_032520.5(GNPTG):c.637T>C (p.Phe213Leu)	not provided [RCV002932143]	uncertain significance	16	1362638	1362638	Human		name
156254708	CV2117184	single nucleotide variant	NM_032520.5(GNPTG):c.325C>T (p.His109Tyr)	not provided [RCV002933672]	uncertain significance	16	1362045	1362045	Human		name
156380896	CV2117987	single nucleotide variant	NM_032520.5(GNPTG):c.401G>A (p.Arg134Gln)	not provided [RCV002943132]	uncertain significance	16	1362121	1362121	Human		name
156123485	CV2124772	single nucleotide variant	NM_032520.5(GNPTG):c.853G>C (p.Glu285Gln)	not provided [RCV002953590]	uncertain significance	16	1363026	1363026	Human		name
156304954	CV2129713	single nucleotide variant	NM_032520.5(GNPTG):c.350C>T (p.Thr117Ile)	not provided [RCV002962320]	uncertain significance	16	1362070	1362070	Human		name
156305046	CV2129717	single nucleotide variant	NM_032520.5(GNPTG):c.647C>T (p.Ala216Val)	Inborn genetic diseases [RCV003377817]\|not provided [RCV002962324]	uncertain significance	16	1362648	1362648	Human	1	name
155987816	CV2137078	single nucleotide variant	NM_032520.5(GNPTG):c.878A>C (p.Glu293Ala)	not provided [RCV002996419]	uncertain significance	16	1363051	1363051	Human		name
156109275	CV2140065	single nucleotide variant	NM_032520.5(GNPTG):c.852C>G (p.His284Gln)	Inborn genetic diseases [RCV003002522]\|not provided [RCV003002523]	likely benign\|uncertain significance	16	1363025	1363025	Human	1	name
155944519	CV2143206	single nucleotide variant	NM_032520.5(GNPTG):c.375C>A (p.Asp125Glu)	not provided [RCV002994264]	uncertain significance	16	1362095	1362095	Human		name
156114205	CV2177601	single nucleotide variant	NM_032520.5(GNPTG):c.564G>A (p.Trp188Ter)	not provided [RCV003055208]	pathogenic	16	1362489	1362489	Human		name
156178652	CV2177633	single nucleotide variant	NM_032520.5(GNPTG):c.866C>T (p.Ala289Val)	not provided [RCV003057456]	uncertain significance	16	1363039	1363039	Human		name
156199561	CV2182743	single nucleotide variant	NM_032520.5(GNPTG):c.362T>G (p.Met121Arg)	not provided [RCV003024402]	uncertain significance	16	1362082	1362082	Human		name
156292422	CV2296803	single nucleotide variant	NM_032520.5(GNPTG):c.691G>A (p.Glu231Lys)	Inborn genetic diseases [RCV002878981]	uncertain significance	16	1362692	1362692	Human	1	name
156149143	CV2307390	single nucleotide variant	NM_032520.5(GNPTG):c.412G>C (p.Val138Leu)	Inborn genetic diseases [RCV002915274]	uncertain significance	16	1362206	1362206	Human	1	name
156188729	CV2346862	single nucleotide variant	NM_032520.5(GNPTG):c.511C>T (p.Pro171Ser)	Inborn genetic diseases [RCV002984485]\|not provided [RCV003561145]	uncertain significance	16	1362305	1362305	Human	1	name
243064674	CV2414938	single nucleotide variant	NM_032520.5(GNPTG):c.477C>G (p.Tyr159Ter)	GNPTG-mucolipidosis [RCV003143371]	likely pathogenic	16	1362271	1362271	Human	1	name , trait
329397682	CV2456488	single nucleotide variant	NM_032520.5(GNPTG):c.882G>C (p.Gln294His)	Inborn genetic diseases [RCV003195691]	uncertain significance	16	1363055	1363055	Human	1	name
401757684	CV2707914	single nucleotide variant	NM_032520.5(GNPTG):c.401G>T (p.Arg134Leu)	Inborn genetic diseases [RCV003256130]	uncertain significance	16	1362121	1362121	Human	1	name
401797431	CV2742067	single nucleotide variant	NM_032520.5(GNPTG):c.754C>T (p.Leu252Phe)	not specified [RCV003324244]	uncertain significance	16	1362837	1362837	Human		name
401877527	CV2790201	single nucleotide variant	NM_032520.5(GNPTG):c.371G>C (p.Arg124Thr)	Inborn genetic diseases [RCV003383793]	uncertain significance	16	1362091	1362091	Human	1	name
405066000	CV2927316	single nucleotide variant	NM_032520.5(GNPTG):c.670G>T (p.Glu224Ter)	not provided [RCV003580689]	pathogenic	16	1362671	1362671	Human		name
405036857	CV3016733	single nucleotide variant	NM_032520.5(GNPTG):c.592G>T (p.Glu198Ter)	not provided [RCV003695941]	pathogenic	16	1362517	1362517	Human		name
405137853	CV3130718	single nucleotide variant	NM_032520.5(GNPTG):c.568C>T (p.Gln190Ter)	not provided [RCV003838952]	pathogenic	16	1362493	1362493	Human		name
405704540	CV3225116	single nucleotide variant	NM_032520.5(GNPTG):c.553C>T (p.Gln185Ter)	GNPTG-mucolipidosis [RCV003990072]	likely pathogenic	16	1362478	1362478	Human	1	name , trait
11659808	CV324089	single nucleotide variant	NM_032520.5(GNPTG):c.835T>G (p.Leu279Val)	GNPTG-mucolipidosis [RCV000361307]	uncertain significance	16	1363008	1363008	Human	1	name , trait
405768915	CV3262184	single nucleotide variant	NM_032520.5(GNPTG):c.725T>A (p.Leu242Gln)	Inborn genetic diseases [RCV004395574]	uncertain significance	16	1362726	1362726	Human	1	name
11619479	CV333711	single nucleotide variant	NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp)	GNPTG-mucolipidosis [RCV000325865]\|Inborn genetic diseases [RCV002522815]\|not provided [RCV000969157]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1362114	1362114	Human	2	name , trait
11619997	CV333712	single nucleotide variant	NM_032520.5(GNPTG):c.502G>A (p.Val168Ile)	GNPTG-mucolipidosis [RCV000331567]\|GNPTG-related disorder [RCV003957642]\|not provided [RCV000892596]	likely benign\|uncertain significance	16	1362296	1362296	Human	1	name , trait , alternate_id
11625062	CV333721	single nucleotide variant	NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu)	GNPTG-mucolipidosis [RCV000394180]\|not provided [RCV000937043]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1362714	1362714	Human	1	name , trait
11625458	CV333727	single nucleotide variant	NM_032520.5(GNPTG):c.781G>A (p.Gly261Ser)	GNPTG-mucolipidosis [RCV000398883]	uncertain significance	16	1362864	1362864	Human	1	name , trait
11624765	CV333728	single nucleotide variant	NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln)	GNPTG-mucolipidosis [RCV000390177]\|Retinal dystrophy [RCV004816557]\|not provided [RCV001248676]\|not specified [RCV003488534]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	1363060	1363060	Human	3	name , trait
405873583	CV3398659	single nucleotide variant	NM_032520.5(GNPTG):c.916T>C (p.Ter306Arg)	GNPTG-mucolipidosis [RCV004576138]	likely pathogenic	16	1363089	1363089	Human	1	name , trait
11616663	CV340478	single nucleotide variant	NM_032520.5(GNPTG):c.548C>T (p.Ala183Val)	GNPTG-mucolipidosis [RCV000296533]\|not provided [RCV001305385]	uncertain significance	16	1362473	1362473	Human	1	name , trait
407520093	CV3439679	single nucleotide variant	NM_032520.5(GNPTG):c.605C>A (p.Pro202His)	Inborn genetic diseases [RCV004629929]	uncertain significance	16	1362530	1362530	Human	1	name
407520096	CV3439681	single nucleotide variant	NM_032520.5(GNPTG):c.527T>C (p.Val176Ala)	Inborn genetic diseases [RCV004629930]	uncertain significance	16	1362452	1362452	Human	1	name
8567019	CV34576	single nucleotide variant	NM_032520.5(GNPTG):c.857C>T (p.Thr286Met)	GNPTG-mucolipidosis [RCV000020927]\|not provided [RCV000675972]	pathogenic\|uncertain significance	16	1363030	1363030	Human	1	name , trait
597680551	CV3678321	single nucleotide variant	NM_032520.5(GNPTG):c.476A>G (p.Tyr159Cys)	Inborn genetic diseases [RCV004982677]	uncertain significance	16	1362270	1362270	Human	1	name
597683635	CV3678322	single nucleotide variant	NM_032520.5(GNPTG):c.798C>A (p.His266Gln)	Inborn genetic diseases [RCV004983751]	uncertain significance	16	1362881	1362881	Human	1	name
597680553	CV3678324	single nucleotide variant	NM_032520.5(GNPTG):c.706A>G (p.Ser236Gly)	Inborn genetic diseases [RCV004982678]	likely benign	16	1362707	1362707	Human	1	name
597680558	CV3678325	single nucleotide variant	NM_032520.5(GNPTG):c.448C>T (p.His150Tyr)	Inborn genetic diseases [RCV004982679]	uncertain significance	16	1362242	1362242	Human	1	name
597855354	CV3762700	single nucleotide variant	NM_032520.5(GNPTG):c.377G>A (p.Gly126Asp)	not specified [RCV005088618]	uncertain significance	16	1362097	1362097	Human		name
597906135	CV3803882	single nucleotide variant	NM_032520.5(GNPTG):c.413T>C (p.Val138Ala)	not provided [RCV005153427]	uncertain significance	16	1362207	1362207	Human		name
12854268	CV384471	single nucleotide variant	NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter)	GNPTG-mucolipidosis [RCV000449610]\|Mucolipidosis [RCV000825527]	likely pathogenic	16	1362044	1362044	Human	2	name , trait
13212473	CV426146	single nucleotide variant	NM_032520.5(GNPTG):c.376G>C (p.Gly126Arg)	not provided [RCV000498870]	likely pathogenic	16	1362096	1362096	Human		name
13789024	CV547692	single nucleotide variant	NM_032520.5(GNPTG):c.836T>A (p.Leu279Ter)	GNPTG-mucolipidosis [RCV000674287]	uncertain significance	16	1363009	1363009	Human	1	name , trait
13783537	CV547729	single nucleotide variant	NM_032520.5(GNPTG):c.328G>T (p.Glu110Ter)	GNPTG-mucolipidosis [RCV000670131]\|not provided [RCV001868240]	pathogenic	16	1362048	1362048	Human	1	name , trait
13790278	CV547733	single nucleotide variant	NM_032520.5(GNPTG):c.388C>T (p.Arg130Cys)	GNPTG-mucolipidosis [RCV000666453]\|not provided [RCV001855461]	uncertain significance	16	1362108	1362108	Human	1	name , trait
13788127	CV547746	single nucleotide variant	NM_032520.5(GNPTG):c.868A>T (p.Lys290Ter)	GNPTG-mucolipidosis [RCV000665208]	uncertain significance	16	1363041	1363041	Human	1	name , trait
13788189	CV547987	single nucleotide variant	NM_032520.5(GNPTG):c.557G>A (p.Arg186Gln)	GNPTG-mucolipidosis [RCV000665242]\|not provided [RCV001340976]	uncertain significance	16	1362482	1362482	Human	1	name , trait
13787977	CV547996	single nucleotide variant	NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter)	GNPTG-mucolipidosis [RCV000673731]\|not provided [RCV003660829]	pathogenic\|likely pathogenic	16	1362834	1362834	Human	1	name , trait
13785101	CV548424	single nucleotide variant	NM_032520.5(GNPTG):c.574G>C (p.Glu192Gln)	GNPTG-mucolipidosis [RCV000671632]	uncertain significance	16	1362499	1362499	Human	1	name , trait
13792272	CV548449	single nucleotide variant	NM_032520.5(GNPTG):c.853G>T (p.Glu285Ter)	GNPTG-mucolipidosis [RCV000668502]	uncertain significance	16	1363026	1363026	Human	1	name , trait
13789431	CV548456	single nucleotide variant	NM_032520.5(GNPTG):c.880C>T (p.Gln294Ter)	GNPTG-mucolipidosis [RCV000674510]\|not provided [RCV001364027]	uncertain significance	16	1363053	1363053	Human	1	name , trait
14728284	CV643905	single nucleotide variant	NM_032520.5(GNPTG):c.806C>A (p.Pro269His)	GNPTG-mucolipidosis [RCV001825578]\|not provided [RCV000799973]	uncertain significance	16	1362889	1362889	Human	1	name , trait
14703659	CV654787	single nucleotide variant	NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter)	GNPTG-mucolipidosis [RCV001800894]\|not provided [RCV001045343]\|not specified [RCV000825344]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	1362841	1362841	Human	1	name , trait
15149209	CV714736	single nucleotide variant	NM_032520.5(GNPTG):c.910A>G (p.Ser304Gly)	GNPTG-mucolipidosis [RCV001116738]\|not provided [RCV000967710]	benign\|likely benign	16	1363083	1363083	Human	1	name , trait
15177997	CV726424	single nucleotide variant	NM_032520.5(GNPTG):c.450T>G (p.His150Gln)	GNPTG-mucolipidosis [RCV001830937]\|GNPTG-related disorder [RCV003940513]\|not provided [RCV000884957]	benign	16	1362244	1362244	Human	1	name , trait , alternate_id
15099683	CV726426	single nucleotide variant	NM_032520.5(GNPTG):c.814A>G (p.Arg272Gly)	GNPTG-mucolipidosis [RCV001276185]\|GNPTG-related disorder [RCV003940700]\|not provided [RCV000891982]	likely benign	16	1362897	1362897	Human	1	name , trait , alternate_id
15106552	CV754891	single nucleotide variant	NM_032520.5(GNPTG):c.479C>T (p.Ala160Val)	GNPTG-mucolipidosis [RCV001832067]\|not provided [RCV000915776]	benign\|likely benign	16	1362273	1362273	Human	1	name , trait
8623913	CV79000	single nucleotide variant	NM_032520.5(GNPTG):c.688C>G (p.Leu230Val)	not provided [RCV000058938]	not provided	16	1362689	1362689	Human		name
26914028	CV843077	single nucleotide variant	NM_032520.5(GNPTG):c.365G>A (p.Trp122Ter)	not provided [RCV001036924]	pathogenic	16	1362085	1362085	Human		name
26895927	CV843078	single nucleotide variant	NM_032520.5(GNPTG):c.366G>C (p.Trp122Cys)	GNPTG-mucolipidosis [RCV001276184]\|not provided [RCV001064339]	uncertain significance	16	1362086	1362086	Human	1	name , trait
26916588	CV843079	single nucleotide variant	NM_032520.5(GNPTG):c.371G>T (p.Arg124Met)	not provided [RCV001040655]	uncertain significance	16	1362091	1362091	Human		name
26918430	CV843080	single nucleotide variant	NM_032520.5(GNPTG):c.376G>A (p.Gly126Ser)	not provided [RCV001043650]	uncertain significance	16	1362096	1362096	Human		name
26892584	CV843081	single nucleotide variant	NM_032520.5(GNPTG):c.440G>A (p.Arg147Gln)	GNPTG-mucolipidosis [RCV001273757]\|not provided [RCV001061966]	uncertain significance	16	1362234	1362234	Human	1	name , trait
26917528	CV843082	single nucleotide variant	NM_032520.5(GNPTG):c.472G>A (p.Val158Ile)	GNPTG-mucolipidosis [RCV001273758]\|not provided [RCV001041991]	uncertain significance	16	1362266	1362266	Human	1	name , trait
26918800	CV843083	single nucleotide variant	NM_032520.5(GNPTG):c.538C>G (p.Leu180Val)	GNPTG-mucolipidosis [RCV001827271]\|Inborn genetic diseases [RCV004973277]\|not provided [RCV001044265]	uncertain significance	16	1362463	1362463	Human	2	name , trait
26884472	CV843084	single nucleotide variant	NM_032520.5(GNPTG):c.665C>G (p.Pro222Arg)	GNPTG-mucolipidosis [RCV001273765]\|not provided [RCV001051874]	uncertain significance	16	1362666	1362666	Human	1	name , trait
28887359	CV874624	single nucleotide variant	NM_032520.5(GNPTG):c.479C>A (p.Ala160Glu)	GNPTG-mucolipidosis [RCV001119619]\|not provided [RCV001239947]	uncertain significance	16	1362273	1362273	Human	1	name , trait
28887368	CV874625	single nucleotide variant	NM_032520.5(GNPTG):c.562T>C (p.Trp188Arg)	GNPTG-mucolipidosis [RCV001119621]	uncertain significance	16	1362487	1362487	Human	1	name , trait
28893224	CV874626	single nucleotide variant	NM_032520.5(GNPTG):c.740A>G (p.Lys247Arg)	GNPTG-mucolipidosis [RCV001121613]	uncertain significance	16	1362741	1362741	Human	1	name , trait
28877937	CV874628	single nucleotide variant	NM_032520.5(GNPTG):c.838G>A (p.Glu280Lys)	GNPTG-mucolipidosis [RCV001116737]	uncertain significance	16	1363011	1363011	Human	1	name , trait
34890825	CV905846	single nucleotide variant	NM_032520.5(GNPTG):c.658A>T (p.Lys220Ter)	GNPTG-mucolipidosis [RCV001174527]	pathogenic	16	1362659	1362659	Human	1	name , trait
38482351	CV937215	single nucleotide variant	NM_032520.5(GNPTG):c.344A>C (p.Asn115Thr)	GNPTG-mucolipidosis [RCV001833822]\|not provided [RCV001207224]	uncertain significance	16	1362064	1362064	Human	1	name , trait
38466747	CV937216	single nucleotide variant	NM_032520.5(GNPTG):c.877G>A (p.Glu293Lys)	GNPTG-mucolipidosis [RCV001828696]\|not provided [RCV001212831]	uncertain significance	16	1363050	1363050	Human	1	name , trait
38477452	CV949162	single nucleotide variant	NM_032520.5(GNPTG):c.773G>A (p.Arg258Lys)	GNPTG-mucolipidosis [RCV001828858]\|not provided [RCV001233493]	uncertain significance	16	1362856	1362856	Human	1	name , trait
38488281	CV949163	single nucleotide variant	NM_032520.5(GNPTG):c.805C>T (p.Pro269Ser)	not provided [RCV001237920]	uncertain significance	16	1362888	1362888	Human		name
38496396	CV957619	single nucleotide variant	NM_032520.5(GNPTG):c.302A>G (p.Tyr101Cys)	not provided [RCV001242535]	uncertain significance	16	1361940	1361940	Human		name
38495963	CV957620	single nucleotide variant	NM_032520.5(GNPTG):c.551T>A (p.Leu184Gln)	GNPTG-mucolipidosis [RCV001835122]\|not provided [RCV001242269]	uncertain significance	16	1362476	1362476	Human	1	name , trait
38463632	CV957621	single nucleotide variant	NM_032520.5(GNPTG):c.798C>G (p.His266Gln)	GNPTG-mucolipidosis [RCV001835294]\|not provided [RCV001247285]	uncertain significance	16	1362881	1362881	Human	1	name , trait
38493400	CV957622	single nucleotide variant	NM_032520.5(GNPTG):c.802A>C (p.Ile268Leu)	GNPTG-mucolipidosis [RCV001828957]\|not provided [RCV001240661]	uncertain significance	16	1362885	1362885	Human	1	name , trait
40905218	CV979759	single nucleotide variant	NM_032520.5(GNPTG):c.373G>T (p.Asp125Tyr)	GNPTG-mucolipidosis [RCV001278359]	uncertain significance	16	1362093	1362093	Human	1	name , trait
126731414	CV996581	single nucleotide variant	NM_032520.5(GNPTG):c.615T>A (p.His205Gln)	not provided [RCV001294376]	uncertain significance	16	1362616	1362616	Human		name
126736656	CV996582	single nucleotide variant	NM_032520.5(GNPTG):c.698G>T (p.Gly233Val)	not provided [RCV001304773]	uncertain significance	16	1362699	1362699	Human		name
126767368	CV996584	single nucleotide variant	NM_032520.5(GNPTG):c.856A>G (p.Thr286Ala)	Inborn genetic diseases [RCV004036233]\|not provided [RCV001302255]	uncertain significance	16	1363029	1363029	Human	1	name
151716002	CV1334605	microsatellite	NM_032520.5(GNPTG):c.190_193dup (p.Phe65fs)	GNPTG-mucolipidosis [RCV001843409]\|not provided [RCV003698881]	pathogenic\|likely pathogenic	16	1361752	1361753	Human		name , trait
151708885	CV1383785	microsatellite	NM_032520.5(GNPTG):c.221TGG[1] (p.Val75del)	not provided [RCV001907563]	uncertain significance	16	1361785	1361787	Human		name
155736748	CV1783968	deletion	NM_032520.5(GNPTG):c.216_217del (p.Phe72fs)	GNPTG-mucolipidosis [RCV002310125]	likely pathogenic	16	1361780	1361781	Human	1	name , trait
597899449	CV3854680	deletion	NM_032520.5(GNPTG):c.118_121del (p.Asn40fs)	not provided [RCV005201788]	pathogenic	16	1352245	1352248	Human		name
13215466	CV431017	duplication	NM_032520.4(GNPTG):c.499dup (p.Leu167Profs)	GNPTG-mucolipidosis [RCV000502548]\|not provided [RCV001070439]	pathogenic	16	1362287	1362288	Human	1	name , trait
127273684	CV1063498	deletion	NM_032520.5(GNPTG):c.417_429del (p.Leu140fs)	not provided [RCV001390867]	pathogenic	16	1362206	1362218	Human		name
127249822	CV1063503	deletion	NM_032520.5(GNPTG):c.750_753del (p.Lys250fs)	not provided [RCV001385187]	pathogenic	16	1362831	1362834	Human		name
151811217	CV1345272	duplication	NM_032520.5(GNPTG):c.601_602dup (p.Gln203fs)	not provided [RCV001878288]	pathogenic	16	1362524	1362525	Human		name
151799532	CV1445914	duplication	NM_032520.5(GNPTG):c.806_821dup (p.Glu275fs)	not provided [RCV002011436]	uncertain significance	16	1362887	1362888	Human		name
151784641	CV1481428	deletion	NM_032520.5(GNPTG):c.385_400del (p.Cys129fs)	not provided [RCV001951409]	pathogenic	16	1362102	1362117	Human		name
151710593	CV1500589	duplication	NM_032520.5(GNPTG):c.659_666dup (p.Glu223fs)	not provided [RCV002001879]	uncertain significance	16	1362658	1362659	Human		name
8556993	CV17835	deletion	NM_032520.5(GNPTG):c.640_667del (p.Glu214fs)	GNPTG-mucolipidosis [RCV000002930]	pathogenic	16	1362641	1362668	Human	1	name , trait
156208268	CV1932201	deletion	NM_032520.5(GNPTG):c.262_264del (p.Asn88del)	not provided [RCV002643895]	uncertain significance	16	1361898	1361900	Human		name
156134855	CV1962870	duplication	NM_032520.5(GNPTG):c.752_762dup (p.Glu255fs)	not provided [RCV002572359]	uncertain significance	16	1362830	1362831	Human		name
156173904	CV2144627	duplication	NM_032520.5(GNPTG):c.748_754dup (p.Leu252fs)	not provided [RCV003005480]	uncertain significance	16	1362830	1362831	Human		name
405042159	CV2862894	duplication	NM_032520.5(GNPTG):c.355_356dup (p.Gly120fs)	not provided [RCV003579199]	pathogenic	16	1362073	1362074	Human		name
402494309	CV2890431	duplication	NM_032520.5(GNPTG):c.384_385dup (p.Cys129fs)	GNPTG-mucolipidosis [RCV005014760]\|not provided [RCV003573217]	pathogenic\|likely pathogenic	16	1362103	1362104	Human	1	name , trait
405187094	CV2977576	deletion	NM_032520.5(GNPTG):c.636_648del (p.Phe213fs)	not provided [RCV003706118]	pathogenic	16	1362635	1362647	Human		name
405003284	CV3016319	duplication	NM_032520.5(GNPTG):c.632_639dup (p.Glu214fs)	not provided [RCV003693377]	pathogenic	16	1362632	1362633	Human		name
405200734	CV3164900	microsatellite	NM_032520.5(GNPTG):c.461_465del (p.Pro154fs)	not provided [RCV003860761]	pathogenic	16	1362249	1362253	Human		name
405855246	CV3394008	deletion	NM_032520.5(GNPTG):c.819_822del (p.Thr274fs)	GNPTG-mucolipidosis [RCV004547234]	uncertain significance	16	1362902	1362905	Human	1	name , trait
8567010	CV34567	microsatellite	NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del)	GNPTG-mucolipidosis [RCV000020918]\|Retinal dystrophy [RCV004814912]\|Rod-cone dystrophy [RCV003105776]\|not provided [RCV000794773]	pathogenic\|likely pathogenic	16	1362062	1362064	Human		name , trait
8567011	CV34568	deletion	NM_032520.5(GNPTG):c.379_391del (p.Asp127fs)	GNPTG-mucolipidosis [RCV000020919]	pathogenic\|not provided	16	1362098	1362110	Human	1	name , trait
597757773	CV3711359	deletion	NM_032520.5(GNPTG):c.432_433del (p.Ser145fs)	GNPTG-mucolipidosis [RCV005017654]	likely pathogenic	16	1362223	1362224	Human	1	name , trait
597757778	CV3711362	duplication	NM_032520.5(GNPTG):c.617_638dup (p.Phe213fs)	GNPTG-mucolipidosis [RCV005017655]	likely pathogenic	16	1362617	1362618	Human	1	name , trait
597757788	CV3711363	microsatellite	NM_032520.5(GNPTG):c.720_721dup (p.Thr241fs)	GNPTG-mucolipidosis [RCV005017657]	likely pathogenic	16	1362718	1362719	Human		name , trait
13516458	CV493321	deletion	NM_032520.5(GNPTG):c.436_446del (p.Asn146fs)	GNPTG-mucolipidosis [RCV005019024]\|not provided [RCV000595548]	pathogenic\|likely pathogenic	16	1362228	1362238	Human	1	name , trait
13783679	CV547702	deletion	NM_032520.5(GNPTG):c.867_880del (p.Lys290fs)	GNPTG-mucolipidosis [RCV000670236]	uncertain significance	16	1363033	1363046	Human	1	name , trait
13788858	CV547717	deletion	NM_032520.5(GNPTG):c.868_869del (p.Lys290fs)	GNPTG-mucolipidosis [RCV000674195]	uncertain significance	16	1363041	1363042	Human	1	name , trait
13782853	CV548452	deletion	NM_032520.5(GNPTG):c.862_874del (p.Arg288fs)	GNPTG-mucolipidosis [RCV000669384]	uncertain significance	16	1363034	1363046	Human	1	name , trait
13791552	CV548459	deletion	NM_032520.5(GNPTG):c.893_894del (p.Asp298fs)	GNPTG-mucolipidosis [RCV000667594]	uncertain significance	16	1363066	1363067	Human	1	name , trait
155729194	CV1782710	insertion	NM_032520.5(GNPTG):c.599_600insG (p.Ile200fs)	GNPTG-mucolipidosis [RCV002308242]	likely pathogenic	16	1362524	1362525	Human	1	name , trait
155735905	CV1783326	indel	NM_032520.5(GNPTG):c.37_38delinsT (p.Gly13fs)	GNPTG-mucolipidosis [RCV002309483]	likely pathogenic	16	1352002	1352003	Human		name , trait
405211595	CV2867887	insertion	NM_032520.5(GNPTG):c.363_364insA (p.Trp122fs)	not provided [RCV003552574]	pathogenic	16	1362083	1362084	Human		name
8567013	CV34570	insertion	NM_032520.5(GNPTG):c.608_609insC (p.Gln203fs)	GNPTG-mucolipidosis [RCV000020921]	pathogenic\|not provided	16	1362533	1362534	Human	1	name , trait
8567017	CV34574	insertion	NM_032520.5(GNPTG):c.619_620insT (p.Lys207fs)	GNPTG-mucolipidosis [RCV000020925]	pathogenic\|not provided	16	1362620	1362621	Human	1	name , trait
13788573	CV547742	duplication	NM_032520.5(GNPTG):c.828_830dup (p.Ser277dup)	GNPTG-mucolipidosis [RCV000665458]	uncertain significance	16	1362999	1363000	Human	1	name , trait
13782622	CV547997	deletion	NM_032520.5(GNPTG):c.814_816del (p.Arg272del)	GNPTG-mucolipidosis [RCV000669091]	uncertain significance	16	1362896	1362898	Human	1	name , trait
155725015	CV1783488	indel	NM_032520.5(GNPTG):c.88_90delinsTT (p.Val30fs)	GNPTG-mucolipidosis [RCV002306932]	likely pathogenic	16	1352137	1352139	Human		name , trait
38478571	CV949161	insertion	NM_032520.5(GNPTG):c.478_479insTAGG (p.Ala160fs)	GNPTG-mucolipidosis [RCV001780169]\|not provided [RCV001233949]	pathogenic	16	1362271	1362272	Human	1	name , trait
405164804	CV2905766	indel	NM_032520.5(GNPTG):c.125_126delinsAG (p.Phe42Ter)	not provided [RCV003562653]	pathogenic	16	1352253	1352254	Human		name
13787540	CV547668	deletion	NM_032520.5(GNPTG):c.2_4del (p.Met1_Ala2delinsThr)	GNPTG-mucolipidosis [RCV000673511]	conflicting interpretations of pathogenicity\|uncertain significance	16	1351967	1351969	Human	1	name , trait
13787532	CV547727	deletion	NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del)	GNPTG-mucolipidosis [RCV000664893]\|not provided [RCV001037602]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	1361876	1361881	Human	1	name , trait
151863469	CV1353662	deletion	NM_032520.5(GNPTG):c.571del (p.Gln190_Val191insTer)	not provided [RCV001924310]	pathogenic	16	1362495	1362495	Human		name
26884639	CV843087	deletion	NM_032520.5(GNPTG):c.916_*7del (p.Ter306ValextTer?)	not provided [RCV001052214]	uncertain significance	16	1363087	1363096	Human		name
13791885	CV547981	deletion	NM_032520.5(GNPTG):c.551_556del (p.Leu184_Gln185del)	GNPTG-mucolipidosis [RCV000668017]\|not provided [RCV001861763]	uncertain significance	16	1362475	1362480	Human	1	name , trait
13790776	CV548430	deletion	NM_032520.5(GNPTG):c.660_671del (p.Thr221_Glu224del)	GNPTG-mucolipidosis [RCV000666797]	uncertain significance	16	1362660	1362671	Human	1	name , trait
13783120	CV548422	deletion	NM_032520.5(GNPTG):c.242_243del (p.Lys80_Tyr81insTer)	GNPTG-mucolipidosis [RCV000669714]\|not provided [RCV003767977]	pathogenic\|likely pathogenic	16	1361879	1361880	Human	1	name , trait
597891803	CV3785045	duplication	NM_032520.5(GNPTG):c.594_604dup (p.Pro202delinsArgTer)	not provided [RCV005125824]	pathogenic	16	1362518	1362519	Human		name
151728796	CV1517573	deletion	NM_032520.5(GNPTG):c.638_639del (p.Leu212_Phe213insTer)	GNPTG-mucolipidosis [RCV002052189]\|not provided [RCV002550510]	pathogenic	16	1362636	1362637	Human	1	name , trait
156342220	CV1871359	deletion	NM_032520.5(GNPTG):c.654_657del (p.Gly217_Tyr218insTer)	not provided [RCV003064299]	pathogenic	16	1362653	1362656	Human		name
405854455	CV3393063	duplication	NM_032520.5(GNPTG):c.15_23dup (p.Leu8_Leu9insAlaArgLeu)	not specified [RCV004527220]	uncertain significance	16	1351975	1351976	Human		name
156436056	CV1937313	duplication	NM_032520.5(GNPTG):c.659_664dup (p.Thr221_Pro222insGlnThr)	not provided [RCV003105175]	uncertain significance	16	1362659	1362660	Human		name
13782965	CV547724	duplication	NM_032520.5(GNPTG):c.873_878dup (p.Pro292_Glu293insAspPro)	GNPTG-mucolipidosis [RCV000669527]\|not provided [RCV001855522]	uncertain significance	16	1363045	1363046	Human	1	name , trait

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