Pgap1 Variant Search Result - Rat Genome Database

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426 records found for search term Pgap1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
151756112	CV1336161	single nucleotide variant	NM_024989.4(PGAP1):c.-5G>C	Hereditary spastic paraplegia [RCV001848561]	uncertain significance	2	196926621	196926621	Human	1	name
150418028	CV1196789	single nucleotide variant	NM_024989.3(PGAP1):c.-94G>A	Hereditary spastic paraplegia [RCV001847305]\|not provided [RCV001576563]	likely benign\|uncertain significance	2	196926710	196926710	Human	2	name
150418028	CV1196789	single nucleotide variant	NM_024989.3(PGAP1):c.-94G>A	Hereditary spastic paraplegia [RCV001847305]\|not provided [RCV001576563]	likely benign\|uncertain significance	2	196926710	196926711	Human	2	name
150462688	CV1263696	single nucleotide variant	NM_024989.4(PGAP1):c.*205G>C	not provided [RCV001682397]	benign	2	196841029	196841029	Human		name
152154222	CV1667859	single nucleotide variant	NM_024989.4(PGAP1):c.*203T>C	not provided [RCV002221751]	likely benign	2	196841031	196841031	Human		name
152034979	CV1670070	single nucleotide variant	NM_024989.4(PGAP1):c.*173A>G	not provided [RCV002223604]	uncertain significance	2	196841061	196841061	Human		name
150546401	CV1313725	single nucleotide variant	NM_024989.4(PGAP1):c.861-2A>G	Intellectual disability, autosomal recessive 42 [RCV004527538]	pathogenic	2	196897199	196897199	Human	1	name
151799918	CV1383171	single nucleotide variant	NM_024989.4(PGAP1):c.478-3T>C	Intellectual disability, autosomal recessive 42 [RCV001921226]	uncertain significance	2	196913056	196913056	Human	1	name
156412473	CV1890612	single nucleotide variant	NM_024989.4(PGAP1):c.301+7C>T	Intellectual disability, autosomal recessive 42 [RCV003072907]	likely benign	2	196919990	196919990	Human	1	name
156247718	CV2086286	single nucleotide variant	NM_024989.4(PGAP1):c.927+9T>A	Intellectual disability, autosomal recessive 42 [RCV002876831]	likely benign	2	196897122	196897122	Human	1	name
155917431	CV2091855	single nucleotide variant	NM_024989.4(PGAP1):c.148-9T>A	Intellectual disability, autosomal recessive 42 [RCV002903169]	likely benign	2	196920159	196920159	Human	1	name
156229387	CV2121966	single nucleotide variant	NM_024989.4(PGAP1):c.301+5G>A	Intellectual disability, autosomal recessive 42 [RCV002958449]	uncertain significance	2	196919992	196919992	Human	1	name
156269651	CV2135233	single nucleotide variant	NM_024989.4(PGAP1):c.807+5T>C	Intellectual disability, autosomal recessive 42 [RCV002988775]	uncertain significance	2	196902580	196902580	Human	1	name
155920034	CV2148311	single nucleotide variant	NM_024989.4(PGAP1):c.147+5G>C	Intellectual disability, autosomal recessive 42 [RCV003013137]	uncertain significance	2	196926465	196926465	Human	1	name
156113554	CV2212717	single nucleotide variant	NM_024989.4(PGAP1):c.478-4A>G	Inborn genetic diseases [RCV002707364]	uncertain significance	2	196913057	196913057	Human	1	name
405070318	CV3140183	single nucleotide variant	NM_024989.4(PGAP1):c.649+8C>G	Intellectual disability, autosomal recessive 42 [RCV003833338]	likely benign	2	196912874	196912874	Human	1	name
13217072	CV427977	single nucleotide variant	NM_024989.4(PGAP1):c.927+1G>A	Intellectual disability, autosomal recessive 42 [RCV000504407]	pathogenic	2	196897130	196897130	Human	1	name
15128766	CV695114	single nucleotide variant	NM_024989.4(PGAP1):c.927+4T>C	Hereditary spastic paraplegia [RCV001847099]\|Inborn genetic diseases [RCV002539203]\|Intellectual disability, autosomal recessive 42 [RCV000875541]\|not provided [RCV003432846]	likely benign\|uncertain significance	2	196897127	196897127	Human	3	name
15136647	CV695115	single nucleotide variant	NM_024989.4(PGAP1):c.650-6C>T	Intellectual disability, autosomal recessive 42 [RCV000876858]\|PGAP1-related disorder [RCV003930443]\|not provided [RCV005243396]	likely benign	2	196902748	196902748	Human	1	name , trait , alternate_id
15124271	CV759083	single nucleotide variant	NM_024989.4(PGAP1):c.148-8A>T	Intellectual disability, autosomal recessive 42 [RCV000918955]	likely benign	2	196920158	196920158	Human	1	name
150529512	CV1052844	single nucleotide variant	NM_024989.4(PGAP1):c.1221-3A>G	Intellectual disability, autosomal recessive 42 [RCV001726504]	pathogenic	2	196885478	196885478	Human	1	name
127230149	CV1059125	single nucleotide variant	NM_024989.4(PGAP1):c.1952+1G>C	Intellectual disability, autosomal recessive 42 [RCV001385052]	pathogenic	2	196847946	196847946	Human	1	name
8555355	CV106842	single nucleotide variant	NM_024989.4(PGAP1):c.1952+1G>T	Intellectual disability, autosomal recessive 42 [RCV000087334]	pathogenic\|uncertain significance	2	196847946	196847946	Human	1	name
127322017	CV1153936	deletion	NM_024989.4(PGAP1):c.1273-8del	Intellectual disability, autosomal recessive 42 [RCV001523333]	benign	2	196880161	196880161	Human	1	name
127312413	CV1153938	single nucleotide variant	NM_024989.4(PGAP1):c.860+12C>A	Intellectual disability, autosomal recessive 42 [RCV001518939]\|not provided [RCV001534938]	benign\|likely benign	2	196898305	196898305	Human	1	name
127310794	CV1153939	single nucleotide variant	NM_024989.4(PGAP1):c.649+17G>A	Intellectual disability, autosomal recessive 42 [RCV001518400]\|not provided [RCV001655769]	benign	2	196912865	196912865	Human	1	name
150339473	CV1174790	deletion	NM_024989.4(PGAP1):c.1089+5del	not provided [RCV001543527]	likely pathogenic	2	196892341	196892341	Human		name
150417681	CV1196788	deletion	NM_024989.4(PGAP1):c.860+99del	not provided [RCV001576406]	likely benign	2	196898218	196898218	Human		name
150484246	CV1245257	single nucleotide variant	NM_024989.4(PGAP1):c.927+31A>G	not provided [RCV001653434]	benign	2	196897100	196897100	Human		name
150488087	CV1265196	single nucleotide variant	NM_024989.4(PGAP1):c.861-92A>G	not provided [RCV001687232]	benign	2	196897289	196897289	Human		name
151756090	CV1336158	single nucleotide variant	NM_024989.4(PGAP1):c.2526-7A>G	Hereditary spastic paraplegia [RCV001848558]	uncertain significance	2	196842832	196842832	Human	1	name
151791585	CV1386264	single nucleotide variant	NM_024989.4(PGAP1):c.1220+3A>G	Intellectual disability, autosomal recessive 42 [RCV001905338]	uncertain significance	2	196885831	196885831	Human	1	name
151715102	CV1413372	single nucleotide variant	NM_024989.4(PGAP1):c.2286+1G>A	Intellectual disability, autosomal recessive 42 [RCV002018672]	likely pathogenic	2	196845881	196845881	Human	1	name
151723511	CV1478802	single nucleotide variant	NM_024989.4(PGAP1):c.2525+5G>A	Intellectual disability, autosomal recessive 42 [RCV002045675]	uncertain significance	2	196843883	196843883	Human	1	name
152166537	CV1524390	single nucleotide variant	NM_024989.4(PGAP1):c.301+17G>T	Intellectual disability, autosomal recessive 42 [RCV002141945]	likely benign	2	196919980	196919980	Human	1	name
152071663	CV1552155	single nucleotide variant	NM_024989.4(PGAP1):c.1729-4C>T	Intellectual disability, autosomal recessive 42 [RCV002148165]	likely benign	2	196870983	196870983	Human	1	name
152082712	CV1558919	single nucleotide variant	NM_024989.4(PGAP1):c.148-18A>G	Intellectual disability, autosomal recessive 42 [RCV002149524]	likely benign	2	196920168	196920168	Human	1	name
152095648	CV1559537	single nucleotide variant	NM_024989.4(PGAP1):c.649+11T>A	Intellectual disability, autosomal recessive 42 [RCV002213322]	benign	2	196912871	196912871	Human	1	name
152129351	CV1584287	single nucleotide variant	NM_024989.4(PGAP1):c.302-17A>G	Intellectual disability, autosomal recessive 42 [RCV002082650]	likely benign	2	196916610	196916610	Human	1	name
152098342	CV1595389	single nucleotide variant	NM_024989.4(PGAP1):c.301+15A>C	Intellectual disability, autosomal recessive 42 [RCV002213665]	likely benign	2	196919982	196919982	Human	1	name
152131777	CV1604621	duplication	NM_024989.4(PGAP1):c.927+12dup	Intellectual disability, autosomal recessive 42 [RCV002099587]	benign	2	196897118	196897119	Human	1	name
152140007	CV1628700	single nucleotide variant	NM_024989.4(PGAP1):c.927+17T>C	Intellectual disability, autosomal recessive 42 [RCV002100643]	likely benign	2	196897114	196897114	Human	1	name
152034015	CV1634703	single nucleotide variant	NM_024989.4(PGAP1):c.1090-4G>A	Intellectual disability, autosomal recessive 42 [RCV002086900]	likely benign	2	196890915	196890915	Human	1	name
152101384	CV1649021	single nucleotide variant	NM_024989.4(PGAP1):c.928-17A>G	Intellectual disability, autosomal recessive 42 [RCV002214056]	likely benign	2	196893262	196893262	Human	1	name
156299925	CV1929464	single nucleotide variant	NM_024989.4(PGAP1):c.478-15G>T	Intellectual disability, autosomal recessive 42 [RCV002647587]	likely benign	2	196913068	196913068	Human	1	name
156132502	CV1962773	single nucleotide variant	NM_024989.4(PGAP1):c.928-20T>G	Intellectual disability, autosomal recessive 42 [RCV002572282]	likely benign	2	196893265	196893265	Human	1	name
156145277	CV2037290	single nucleotide variant	NM_024989.4(PGAP1):c.807+14A>G	Intellectual disability, autosomal recessive 42 [RCV002786664]	likely benign	2	196902571	196902571	Human	1	name
156292817	CV2065155	single nucleotide variant	NM_024989.4(PGAP1):c.477+12G>A	Intellectual disability, autosomal recessive 42 [RCV002856823]	likely benign	2	196916406	196916406	Human	1	name
156218482	CV2087445	deletion	NM_024989.4(PGAP1):c.807+13del	Intellectual disability, autosomal recessive 42 [RCV002875771]	benign	2	196902572	196902572	Human	1	name
156229361	CV2121965	single nucleotide variant	NM_024989.4(PGAP1):c.301+14G>A	Intellectual disability, autosomal recessive 42 [RCV002958448]	likely benign	2	196919983	196919983	Human	1	name
156279414	CV2137469	single nucleotide variant	NM_024989.4(PGAP1):c.2525+4C>T	Intellectual disability, autosomal recessive 42 [RCV003009544]	uncertain significance	2	196843884	196843884	Human	1	name
156125641	CV2185609	single nucleotide variant	NM_024989.4(PGAP1):c.2631-7T>C	Intellectual disability, autosomal recessive 42 [RCV003055640]	likely benign	2	196841379	196841379	Human	1	name
11040429	CV224702	single nucleotide variant	NM_024989.4(PGAP1):c.1090-2A>G	Intellectual disability, autosomal recessive 42 [RCV000208574]	pathogenic	2	196890913	196890913	Human	1	name
401916285	CV2795386	single nucleotide variant	NM_024989.4(PGAP1):c.1351-1G>T	Neurodevelopmental disorder [RCV003389221]	uncertain significance	2	196875822	196875822	Human	1	name
405149253	CV2859642	single nucleotide variant	NM_024989.4(PGAP1):c.1351-2A>G	Intellectual disability, autosomal recessive 42 [RCV003585501]	likely pathogenic	2	196875823	196875823	Human	1	name
405141832	CV2907731	single nucleotide variant	NM_024989.4(PGAP1):c.2287-1G>A	Intellectual disability, autosomal recessive 42 [RCV003584201]	likely pathogenic	2	196844575	196844575	Human	1	name
405007623	CV3118242	single nucleotide variant	NM_024989.4(PGAP1):c.2526-4A>G	Intellectual disability, autosomal recessive 42 [RCV003828672]	likely benign	2	196842829	196842829	Human	1	name
402516855	CV3179002	single nucleotide variant	NM_024989.4(PGAP1):c.860+16T>C	Intellectual disability, autosomal recessive 42 [RCV003879435]	likely benign	2	196898301	196898301	Human	1	name
12836018	CV366822	single nucleotide variant	NM_024989.4(PGAP1):c.2286+6T>G	not specified [RCV000422678]	likely benign	2	196845876	196845876	Human		name
597894539	CV3773323	single nucleotide variant	NM_024989.4(PGAP1):c.302-20T>G	Intellectual disability, autosomal recessive 42 [RCV005111230]	likely benign	2	196916613	196916613	Human	1	name
597953891	CV3795650	single nucleotide variant	NM_024989.4(PGAP1):c.928-19G>A	Intellectual disability, autosomal recessive 42 [RCV005136660]	likely benign	2	196893264	196893264	Human	1	name
597861946	CV3860463	single nucleotide variant	NM_024989.4(PGAP1):c.301+18T>C	Intellectual disability, autosomal recessive 42 [RCV005195991]	likely benign	2	196919979	196919979	Human	1	name
616934478	CV4012483	single nucleotide variant	NM_024989.4(PGAP1):c.477+14A>G	not specified [RCV005409520]	likely benign	2	196916404	196916404	Human		name
13509451	CV482304	single nucleotide variant	NM_024989.4(PGAP1):c.2286+5G>A	Intellectual disability, autosomal recessive 42 [RCV000579389]	uncertain significance	2	196845877	196845877	Human	1	name
13817586	CV559514	single nucleotide variant	NM_024989.4(PGAP1):c.2338-2A>C	Intellectual disability, autosomal recessive 42 [RCV000693120]	likely pathogenic	2	196844077	196844077	Human	1	name
14696191	CV612427	single nucleotide variant	NM_024989.4(PGAP1):c.1553-4A>G	High myopia [RCV000785740]	uncertain significance	2	196873030	196873030	Human	2	name
14708961	CV658838	single nucleotide variant	NM_024989.4(PGAP1):c.1862-3C>T	Hereditary spastic paraplegia [RCV001849128]\|Intellectual disability, autosomal recessive 42 [RCV001519135]\|not provided [RCV000832321]	benign	2	196848040	196848040	Human	2	name
40815556	CV970732	single nucleotide variant	NM_024989.4(PGAP1):c.1501-2A>G	Intellectual disability, autosomal recessive 42 [RCV001263009]	pathogenic	2	196873581	196873581	Human	1	name
40889484	CV975018	single nucleotide variant	NM_024989.4(PGAP1):c.1089+1G>A	not provided [RCV001268002]	likely pathogenic	2	196892345	196892345	Human		name
127301624	CV1132995	single nucleotide variant	NM_024989.4(PGAP1):c.1173+10T>C	Intellectual disability, autosomal recessive 42 [RCV001478759]	likely benign	2	196890818	196890818	Human	1	name
127307436	CV1153935	single nucleotide variant	NM_024989.4(PGAP1):c.1351-16A>G	Intellectual disability, autosomal recessive 42 [RCV001517105]	benign	2	196875837	196875837	Human	1	name
127305102	CV1153937	duplication	NM_024989.4(PGAP1):c.1273-17dup	Intellectual disability, autosomal recessive 42 [RCV001516157]\|not provided [RCV001655757]	benign	2	196880160	196880161	Human	1	name
150470032	CV1209248	deletion	NM_024989.4(PGAP1):c.649+301del	not provided [RCV001588359]	likely benign	2	196912581	196912581	Human		name
150433551	CV1216947	single nucleotide variant	NM_024989.4(PGAP1):c.1619+97A>C	not provided [RCV001608849]	benign	2	196872863	196872863	Human		name
150455750	CV1220504	single nucleotide variant	NM_024989.4(PGAP1):c.861-272T>C	not provided [RCV001612597]	benign	2	196897469	196897469	Human		name
150501322	CV1223675	single nucleotide variant	NM_024989.4(PGAP1):c.1350+45A>G	not provided [RCV001620796]	benign	2	196880031	196880031	Human		name
150494887	CV1224976	single nucleotide variant	NM_024989.4(PGAP1):c.2151-46A>G	not provided [RCV001619454]	benign	2	196846063	196846063	Human		name
150459739	CV1236137	single nucleotide variant	NM_024989.4(PGAP1):c.860+295C>T	not provided [RCV001649108]	benign	2	196898022	196898022	Human		name
150488508	CV1237491	single nucleotide variant	NM_024989.4(PGAP1):c.808-157G>T	not provided [RCV001654340]	benign	2	196898526	196898526	Human		name
150431344	CV1243664	single nucleotide variant	NM_024989.4(PGAP1):c.2286+64T>C	not provided [RCV001663284]	benign	2	196845818	196845818	Human		name
150509883	CV1248406	single nucleotide variant	NM_024989.4(PGAP1):c.2338-82T>C	not provided [RCV001659474]	benign	2	196844157	196844157	Human		name
150505620	CV1255520	single nucleotide variant	NM_024989.4(PGAP1):c.478-271C>A	not provided [RCV001677967]	benign	2	196913324	196913324	Human		name
150493612	CV1267182	deletion	NM_024989.4(PGAP1):c.2337+74del	not provided [RCV001688210]	benign	2	196844450	196844450	Human		name
150499722	CV1282934	single nucleotide variant	NM_024989.4(PGAP1):c.1553-83A>G	not provided [RCV001718243]	benign	2	196873109	196873109	Human		name
150513552	CV1285204	single nucleotide variant	NM_024989.4(PGAP1):c.928-179G>A	not provided [RCV001722074]	benign	2	196893424	196893424	Human		name
151235906	CV1319334	duplication	NM_024989.4(PGAP1):c.649+301dup	not provided [RCV001797279]	likely benign	2	196912580	196912581	Human		name
152159744	CV1544460	single nucleotide variant	NM_024989.4(PGAP1):c.1729-12G>A	Intellectual disability, autosomal recessive 42 [RCV002122974]	benign	2	196870991	196870991	Human	1	name
152094802	CV1546033	single nucleotide variant	NM_024989.4(PGAP1):c.2287-11A>G	Intellectual disability, autosomal recessive 42 [RCV002132484]	benign	2	196844585	196844585	Human	1	name
152127376	CV1572077	single nucleotide variant	NM_024989.4(PGAP1):c.2286+20C>G	Intellectual disability, autosomal recessive 42 [RCV002217595]	likely benign	2	196845862	196845862	Human	1	name
152030864	CV1580908	single nucleotide variant	NM_024989.4(PGAP1):c.1862-19A>T	Intellectual disability, autosomal recessive 42 [RCV002086239]	likely benign	2	196848056	196848056	Human	1	name
152055988	CV1583947	single nucleotide variant	NM_024989.4(PGAP1):c.2338-13T>C	Intellectual disability, autosomal recessive 42 [RCV002208093]	likely benign	2	196844088	196844088	Human	1	name
152106390	CV1591682	single nucleotide variant	NM_024989.4(PGAP1):c.1220+19T>C	Intellectual disability, autosomal recessive 42 [RCV002214869]	benign	2	196885815	196885815	Human	1	name
152145722	CV1649407	single nucleotide variant	NM_024989.4(PGAP1):c.2630+15T>C	Intellectual disability, autosomal recessive 42 [RCV002121007]	benign	2	196842706	196842706	Human	1	name
152154190	CV1667852	single nucleotide variant	NM_024989.4(PGAP1):c.478-131T>G	not provided [RCV002221744]	likely benign	2	196913184	196913184	Human		name
152154205	CV1667855	single nucleotide variant	NM_024989.4(PGAP1):c.1351-58G>T	not provided [RCV002221747]	likely benign	2	196875879	196875879	Human		name
152154218	CV1667858	single nucleotide variant	NM_024989.4(PGAP1):c.1620-28A>G	not provided [RCV002221750]	likely benign	2	196872577	196872577	Human		name
156402229	CV1889298	single nucleotide variant	NM_024989.4(PGAP1):c.2338-16C>T	Intellectual disability, autosomal recessive 42 [RCV003069268]	likely benign	2	196844091	196844091	Human	1	name
156375080	CV1899297	single nucleotide variant	NM_024989.4(PGAP1):c.2286+11T>C	Intellectual disability, autosomal recessive 42 [RCV003092793]	likely benign	2	196845871	196845871	Human	1	name
156444129	CV1937651	duplication	NM_024989.4(PGAP1):c.1553-15dup	Intellectual disability, autosomal recessive 42 [RCV003115048]	benign	2	196873040	196873041	Human	1	name
156116776	CV1982546	single nucleotide variant	NM_024989.4(PGAP1):c.1089+16A>G	Intellectual disability, autosomal recessive 42 [RCV002622790]	likely benign	2	196892330	196892330	Human	1	name
156214911	CV1983651	single nucleotide variant	NM_024989.4(PGAP1):c.2287-12T>C	Intellectual disability, autosomal recessive 42 [RCV002626223]	likely benign	2	196844586	196844586	Human	1	name
156010737	CV2039201	single nucleotide variant	NM_024989.4(PGAP1):c.1501-18G>A	Intellectual disability, autosomal recessive 42 [RCV002795086]	likely benign	2	196873597	196873597	Human	1	name
156309651	CV2109451	single nucleotide variant	NM_024989.4(PGAP1):c.2338-19C>T	Intellectual disability, autosomal recessive 42 [RCV002922997]	benign	2	196844094	196844094	Human	1	name
156348654	CV2125200	single nucleotide variant	NM_024989.4(PGAP1):c.1953-14T>G	Intellectual disability, autosomal recessive 42 [RCV002966126]	likely benign	2	196847214	196847214	Human	1	name
155943654	CV2130058	single nucleotide variant	NM_024989.4(PGAP1):c.1426+17T>A	Intellectual disability, autosomal recessive 42 [RCV002971453]	likely benign	2	196875729	196875729	Human	1	name
405149792	CV2878575	single nucleotide variant	NM_024989.4(PGAP1):c.2286+13A>G	Intellectual disability, autosomal recessive 42 [RCV003585548]	likely benign	2	196845869	196845869	Human	1	name
405248757	CV2970199	single nucleotide variant	NM_024989.4(PGAP1):c.1553-16T>A	Intellectual disability, autosomal recessive 42 [RCV003746900]	likely benign	2	196873042	196873042	Human	1	name
405084212	CV3167241	single nucleotide variant	NM_024989.4(PGAP1):c.1500+14A>T	Intellectual disability, autosomal recessive 42 [RCV003851822]	likely benign	2	196873671	196873671	Human	1	name
405237863	CV3169201	single nucleotide variant	NM_024989.4(PGAP1):c.2287-20G>A	Intellectual disability, autosomal recessive 42 [RCV003866480]	likely benign	2	196844594	196844594	Human	1	name
405212872	CV3169820	single nucleotide variant	NM_024989.4(PGAP1):c.2630+20C>A	Intellectual disability, autosomal recessive 42 [RCV003862419]	likely benign	2	196842701	196842701	Human	1	name
597850380	CV3737230	single nucleotide variant	NM_024989.4(PGAP1):c.1173+16C>T	Intellectual disability, autosomal recessive 42 [RCV005066196]	likely benign	2	196890812	196890812	Human	1	name
597844708	CV3752652	single nucleotide variant	NM_024989.4(PGAP1):c.1620-19A>G	Intellectual disability, autosomal recessive 42 [RCV005087058]	likely benign	2	196872568	196872568	Human	1	name
597946766	CV3755646	single nucleotide variant	NM_024989.4(PGAP1):c.1953-13C>A	Intellectual disability, autosomal recessive 42 [RCV005078656]	likely benign	2	196847213	196847213	Human	1	name
597865530	CV3792658	single nucleotide variant	NM_024989.4(PGAP1):c.2526-19T>C	Intellectual disability, autosomal recessive 42 [RCV005147465]	likely benign	2	196842844	196842844	Human	1	name
597952626	CV3798802	single nucleotide variant	NM_024989.4(PGAP1):c.1351-13T>A	Intellectual disability, autosomal recessive 42 [RCV005136376]	likely benign	2	196875834	196875834	Human	1	name
597927870	CV3855568	deletion	NM_024989.4(PGAP1):c.1221-17del	Intellectual disability, autosomal recessive 42 [RCV005206167]	benign	2	196885492	196885492	Human	1	name
15133976	CV695113	single nucleotide variant	NM_024989.4(PGAP1):c.1952+10A>C	Intellectual disability, autosomal recessive 42 [RCV000876396]\|not provided [RCV004710199]	benign	2	196847937	196847937	Human	1	name
15100790	CV774674	single nucleotide variant	NM_024989.4(PGAP1):c.1173+10T>G	not provided [RCV000936683]	likely benign	2	196890818	196890818	Human		name
150332611	CV1168884	deletion	NM_024989.4(PGAP1):c.1953-259del	not provided [RCV001536969]	likely benign	2	196847459	196847459	Human		name
150335024	CV1170866	single nucleotide variant	NM_024989.4(PGAP1):c.1953-303T>C	not provided [RCV001540361]	benign	2	196847503	196847503	Human		name
150423720	CV1183078	deletion	NM_024989.4(PGAP1):c.2286+293del	not provided [RCV001555703]	likely benign	2	196845589	196845589	Human		name
150405169	CV1193048	duplication	NM_024989.4(PGAP1):c.2630+191dup	not provided [RCV001571502]	likely benign	2	196842521	196842522	Human		name
150503118	CV1212405	single nucleotide variant	NM_024989.4(PGAP1):c.1173+257G>A	not provided [RCV001595280]	benign	2	196890571	196890571	Human		name
150445752	CV1215547	single nucleotide variant	NM_024989.4(PGAP1):c.1090-261G>C	not provided [RCV001611140]	benign	2	196891172	196891172	Human		name
150466566	CV1218211	single nucleotide variant	NM_024989.4(PGAP1):c.1862-104A>G	not provided [RCV001614337]	benign	2	196848141	196848141	Human		name
150468713	CV1218953	duplication	NM_024989.4(PGAP1):c.1953-275dup	not provided [RCV001614705]	benign	2	196847458	196847459	Human		name
150442370	CV1250383	single nucleotide variant	NM_024989.4(PGAP1):c.1273-244A>G	not provided [RCV001666537]	benign	2	196880397	196880397	Human		name
150452963	CV1255031	single nucleotide variant	NM_024989.4(PGAP1):c.1426+199T>A	not provided [RCV001668090]	benign	2	196875547	196875547	Human		name
150458363	CV1259033	single nucleotide variant	NM_024989.4(PGAP1):c.1553-250A>G	not provided [RCV001681752]	benign	2	196873276	196873276	Human		name
150475479	CV1263508	single nucleotide variant	NM_024989.4(PGAP1):c.1953-182G>A	not provided [RCV001685031]	benign	2	196847382	196847382	Human		name
150462496	CV1264744	duplication	NM_024989.4(PGAP1):c.2286+279dup	not provided [RCV001682368]	benign	2	196845588	196845589	Human		name
150513559	CV1285207	single nucleotide variant	NM_024989.4(PGAP1):c.1272+106C>T	not provided [RCV001722077]	benign	2	196885318	196885318	Human		name
152154159	CV1667846	deletion	NM_024989.4(PGAP1):c.1952+133del	not provided [RCV002221738]	likely benign	2	196847814	196847814	Human		name
152154195	CV1667853	single nucleotide variant	NM_024989.4(PGAP1):c.1034-164G>A	not provided [RCV002221745]	likely benign	2	196892565	196892565	Human		name
152154201	CV1667854	single nucleotide variant	NM_024989.4(PGAP1):c.1174-133G>A	not provided [RCV002221746]	likely benign	2	196886013	196886013	Human		name
152154209	CV1667856	single nucleotide variant	NM_024989.4(PGAP1):c.1426+174A>C	not provided [RCV002221748]	likely benign	2	196875572	196875572	Human		name
155642071	CV1707232	single nucleotide variant	NM_024989.4(PGAP1):c.2525+161G>T	not provided [RCV002288162]	likely benign	2	196843727	196843727	Human		name
150455377	CV1246907	microsatellite	NM_024989.4(PGAP1):c.1350+84CA[3]	not provided [RCV001668675]	benign	2	196879988	196879989	Human		name
126760516	CV1003580	microsatellite	NM_024989.4(PGAP1):c.808-7_808-3del	Hereditary spastic paraplegia [RCV001847238]\|Intellectual disability, autosomal recessive 42 [RCV001318362]	likely benign\|uncertain significance	2	196898372	196898376	Human		name
150516171	CV1228261	microsatellite	NM_024989.4(PGAP1):c.807+173GAAT[6]	not provided [RCV001639067]	benign	2	196902396	196902397	Human		name
151756133	CV1336164	single nucleotide variant	NM_024989.4(PGAP1):c.84C>G (p.Val28=)	Hereditary spastic paraplegia [RCV001848564]	likely benign	2	196926533	196926533	Human	1	name
152152866	CV1545157	single nucleotide variant	NM_024989.4(PGAP1):c.36G>A (p.Ala12=)	Intellectual disability, autosomal recessive 42 [RCV002139788]	likely benign	2	196926581	196926581	Human	1	name
152094321	CV1565742	microsatellite	NM_024989.4(PGAP1):c.861-14_861-11del	Intellectual disability, autosomal recessive 42 [RCV002150998]	benign	2	196897208	196897211	Human		name
156289380	CV1890611	deletion	NM_024989.4(PGAP1):c.301+10_301+12del	Intellectual disability, autosomal recessive 42 [RCV003087418]	likely benign	2	196919985	196919987	Human	1	name
156100345	CV2042160	deletion	NM_024989.4(PGAP1):c.20del (p.Asn7fs)	Intellectual disability, autosomal recessive 42 [RCV002761297]	pathogenic	2	196926597	196926597	Human	1	name
15190634	CV762758	single nucleotide variant	NM_024989.4(PGAP1):c.39T>C (p.Phe13=)	Intellectual disability, autosomal recessive 42 [RCV002542264]	likely benign	2	196926578	196926578	Human	1	name
156001310	CV1872880	single nucleotide variant	NM_024989.4(PGAP1):c.22C>A (p.Leu8Ile)	Intellectual disability, autosomal recessive 42 [RCV003076599]	uncertain significance	2	196926595	196926595	Human	1	name
156061163	CV1924479	single nucleotide variant	NM_024989.4(PGAP1):c.186C>T (p.Pro62=)	Intellectual disability, autosomal recessive 42 [RCV002659704]	likely benign	2	196920112	196920112	Human	1	name
156078998	CV2138076	single nucleotide variant	NM_024989.4(PGAP1):c.189A>G (p.Ala63=)	Intellectual disability, autosomal recessive 42 [RCV002979192]	likely benign	2	196920109	196920109	Human	1	name
155997000	CV2171655	single nucleotide variant	NM_024989.4(PGAP1):c.129T>C (p.Phe43=)	Intellectual disability, autosomal recessive 42 [RCV003034591]	likely benign	2	196926488	196926488	Human	1	name
405249126	CV2969316	single nucleotide variant	NM_024989.4(PGAP1):c.195G>A (p.Glu65=)	Intellectual disability, autosomal recessive 42 [RCV003746997]	likely benign	2	196920103	196920103	Human	1	name
15137632	CV691002	single nucleotide variant	NM_024989.4(PGAP1):c.108G>A (p.Lys36=)	Intellectual disability, autosomal recessive 42 [RCV000877032]	likely benign	2	196926509	196926509	Human	1	name
126770710	CV1024045	single nucleotide variant	NM_024989.4(PGAP1):c.55T>C (p.Phe19Leu)	Hereditary spastic paraplegia [RCV001847245]\|Intellectual disability, autosomal recessive 42 [RCV001344625]	uncertain significance	2	196926562	196926562	Human	2	name
127230200	CV1068899	single nucleotide variant	NM_024989.4(PGAP1):c.705A>G (p.Leu235=)	Intellectual disability, autosomal recessive 42 [RCV001401295]	likely benign	2	196902687	196902687	Human	1	name
150431968	CV1200491	duplication	NM_024989.4(PGAP1):c.927+280_927+281dup	not provided [RCV001581213]	likely benign	2	196896828	196896829	Human		name
150467588	CV1207122	duplication	NM_024989.4(PGAP1):c.649+275_649+277dup	not provided [RCV001587914]	likely benign	2	196912580	196912581	Human		name
151354666	CV1327733	single nucleotide variant	NM_024989.4(PGAP1):c.44T>C (p.Val15Ala)	not specified [RCV001819208]	uncertain significance	2	196926573	196926573	Human		name
151756099	CV1336159	single nucleotide variant	NM_024989.4(PGAP1):c.492T>G (p.Ala164=)	Hereditary spastic paraplegia [RCV001848559]\|Intellectual disability, autosomal recessive 42 [RCV002543418]\|not provided [RCV004693780]	likely benign\|uncertain significance	2	196913039	196913039	Human	2	name
151756106	CV1336160	single nucleotide variant	NM_024989.4(PGAP1):c.585T>C (p.Asn195=)	Hereditary spastic paraplegia [RCV001848560]\|Intellectual disability, autosomal recessive 42 [RCV002074419]	likely benign\|uncertain significance	2	196912946	196912946	Human	2	name
151756120	CV1336162	single nucleotide variant	NM_024989.4(PGAP1):c.636T>C (p.Asp212=)	Hereditary spastic paraplegia [RCV001848562]	uncertain significance	2	196912895	196912895	Human	1	name
151756141	CV1336165	single nucleotide variant	NM_024989.4(PGAP1):c.873G>A (p.Leu291=)	Hereditary spastic paraplegia [RCV001848565]	uncertain significance	2	196897185	196897185	Human	1	name
152136309	CV1528453	single nucleotide variant	NM_024989.4(PGAP1):c.876G>A (p.Gln292=)	Intellectual disability, autosomal recessive 42 [RCV002100164]	likely benign	2	196897182	196897182	Human	1	name
152149514	CV1535548	deletion	NM_024989.4(PGAP1):c.1273-18_1273-16del	Intellectual disability, autosomal recessive 42 [RCV002157956]	likely benign	2	196880169	196880171	Human	1	name
152096613	CV1558009	single nucleotide variant	NM_024989.4(PGAP1):c.849C>G (p.Leu283=)	Intellectual disability, autosomal recessive 42 [RCV002172540]	likely benign	2	196898328	196898328	Human	1	name
152106550	CV1560101	insertion	NM_024989.4(PGAP1):c.2150+9_2150+10insA	Intellectual disability, autosomal recessive 42 [RCV002133924]	likely benign	2	196846993	196846994	Human	1	name
152136826	CV1608760	deletion	NM_024989.4(PGAP1):c.1220+10_1220+11del	Intellectual disability, autosomal recessive 42 [RCV002119816]	likely benign	2	196885823	196885824	Human	1	name
152105342	CV1614656	single nucleotide variant	NM_024989.4(PGAP1):c.630A>G (p.Pro210=)	Intellectual disability, autosomal recessive 42 [RCV002079528]	likely benign	2	196912901	196912901	Human	1	name
156045254	CV1868655	deletion	NM_024989.4(PGAP1):c.1351-22_1351-19del	Intellectual disability, autosomal recessive 42 [RCV003052801]	likely benign	2	196875840	196875843	Human	1	name
156060873	CV1876354	deletion	NM_024989.4(PGAP1):c.1729-16_1729-13del	Intellectual disability, autosomal recessive 42 [RCV003053339]	uncertain significance	2	196870992	196870995	Human	1	name
156017394	CV2044183	single nucleotide variant	NM_024989.4(PGAP1):c.43G>A (p.Val15Ile)	Inborn genetic diseases [RCV002795416]\|Intellectual disability, autosomal recessive 42 [RCV002781561]	uncertain significance	2	196926574	196926574	Human	2	name
155950302	CV2046662	single nucleotide variant	NM_024989.4(PGAP1):c.91G>A (p.Gly31Ser)	Intellectual disability, autosomal recessive 42 [RCV002775738]	uncertain significance	2	196926526	196926526	Human	1	name
156214607	CV2087394	deletion	NM_024989.4(PGAP1):c.275del (p.Pro92fs)	Intellectual disability, autosomal recessive 42 [RCV002852964]	pathogenic	2	196920023	196920023	Human	1	name
155983788	CV2094562	single nucleotide variant	NM_024989.4(PGAP1):c.984C>T (p.His328=)	Intellectual disability, autosomal recessive 42 [RCV002907828]	likely benign	2	196893189	196893189	Human	1	name
156029478	CV2105374	single nucleotide variant	NM_024989.4(PGAP1):c.573T>C (p.His191=)	Intellectual disability, autosomal recessive 42 [RCV002909999]	likely benign	2	196912958	196912958	Human	1	name
155903384	CV2127105	single nucleotide variant	NM_024989.4(PGAP1):c.684A>G (p.Leu228=)	Intellectual disability, autosomal recessive 42 [RCV002967558]	likely benign	2	196902708	196902708	Human	1	name
156149312	CV2131134	single nucleotide variant	NM_024989.4(PGAP1):c.82G>A (p.Val28Ile)	Intellectual disability, autosomal recessive 42 [RCV002982595]	uncertain significance	2	196926535	196926535	Human	1	name
329847371	CV2543853	deletion	NM_024989.4(PGAP1):c.289del (p.Ser97fs)	Intellectual disability, autosomal recessive 42 [RCV003228789]	likely pathogenic	2	196920009	196920009	Human	1	name
405150468	CV2884549	single nucleotide variant	NM_024989.4(PGAP1):c.915T>C (p.Ala305=)	Intellectual disability, autosomal recessive 42 [RCV003585607]	likely benign	2	196897143	196897143	Human	1	name
405141253	CV2899943	single nucleotide variant	NM_024989.4(PGAP1):c.951A>G (p.Lys317=)	Intellectual disability, autosomal recessive 42 [RCV003584142]	likely benign	2	196893222	196893222	Human	1	name
405248892	CV2953896	single nucleotide variant	NM_024989.4(PGAP1):c.822T>G (p.Pro274=)	Intellectual disability, autosomal recessive 42 [RCV003746814]	likely benign	2	196898355	196898355	Human	1	name
405248869	CV2964527	single nucleotide variant	NM_024989.4(PGAP1):c.891A>C (p.Arg297=)	Intellectual disability, autosomal recessive 42 [RCV003746936]	likely benign	2	196897167	196897167	Human	1	name
405250484	CV3063142	single nucleotide variant	NM_024989.4(PGAP1):c.52G>A (p.Val18Ile)	Intellectual disability, autosomal recessive 42 [RCV003747549]	uncertain significance	2	196926565	196926565	Human	1	name
407464249	CV3466868	single nucleotide variant	NM_024989.4(PGAP1):c.92G>A (p.Gly31Asp)	Inborn genetic diseases [RCV004659903]	uncertain significance	2	196926525	196926525	Human	1	name
597714094	CV3575883	single nucleotide variant	NM_024989.4(PGAP1):c.50T>A (p.Met17Lys)	Inborn genetic diseases [RCV004959503]	uncertain significance	2	196926567	196926567	Human	1	name
597714076	CV3575887	single nucleotide variant	NM_024989.4(PGAP1):c.98A>G (p.Glu33Gly)	Inborn genetic diseases [RCV004959506]	uncertain significance	2	196926519	196926519	Human	1	name
597922175	CV3775661	single nucleotide variant	NM_024989.4(PGAP1):c.624G>A (p.Val208=)	Intellectual disability, autosomal recessive 42 [RCV005115376]	likely benign	2	196912907	196912907	Human	1	name
597929277	CV3837411	single nucleotide variant	NM_024989.4(PGAP1):c.426G>A (p.Lys142=)	Intellectual disability, autosomal recessive 42 [RCV005185569]	likely benign	2	196916469	196916469	Human	1	name
597946265	CV3841613	microsatellite	NM_024989.4(PGAP1):c.1174-20_1174-16del	Intellectual disability, autosomal recessive 42 [RCV005189046]	likely benign	2	196885896	196885900	Human		name
597934613	CV3844741	single nucleotide variant	NM_024989.4(PGAP1):c.996T>C (p.His332=)	Intellectual disability, autosomal recessive 42 [RCV005186247]	likely benign	2	196893177	196893177	Human	1	name
598262280	CV3999775	single nucleotide variant	NM_024989.4(PGAP1):c.51G>C (p.Met17Ile)	Inborn genetic diseases [RCV005387057]	uncertain significance	2	196926566	196926566	Human	1	name
598262296	CV3999780	single nucleotide variant	NM_024989.4(PGAP1):c.963G>A (p.Leu321=)	Inborn genetic diseases [RCV005387061]	likely benign	2	196893210	196893210	Human	1	name
13215529	CV427978	single nucleotide variant	NM_024989.4(PGAP1):c.906T>C (p.Leu302=)	Hereditary spastic paraplegia [RCV001848873]\|Intellectual disability, autosomal recessive 42 [RCV000527780]\|not provided [RCV001311572]\|not specified [RCV000502521]	benign\|likely benign	2	196897152	196897152	Human	2	name
13472808	CV450374	single nucleotide variant	NM_024989.4(PGAP1):c.534T>G (p.Leu178=)	Hereditary spastic paraplegia [RCV001848973]\|Intellectual disability, autosomal recessive 42 [RCV000547510]\|not provided [RCV001672861]	benign	2	196912997	196912997	Human	2	name
13814388	CV559516	single nucleotide variant	NM_024989.4(PGAP1):c.31C>G (p.Leu11Val)	Intellectual disability, autosomal recessive 42 [RCV000705001]	uncertain significance	2	196926586	196926586	Human	1	name
15179536	CV697226	single nucleotide variant	NM_024989.4(PGAP1):c.546A>G (p.Ala182=)	Intellectual disability, autosomal recessive 42 [RCV001393099]	likely benign	2	196912985	196912985	Human	1	name
38485091	CV922503	single nucleotide variant	NM_024989.4(PGAP1):c.34G>T (p.Ala12Ser)	Intellectual disability, autosomal recessive 42 [RCV001219722]	uncertain significance	2	196926583	196926583	Human	1	name
126763978	CV1024044	single nucleotide variant	NM_024989.4(PGAP1):c.153A>G (p.Ile51Met)	Intellectual disability, autosomal recessive 42 [RCV001341484]\|not provided [RCV005051895]	uncertain significance	2	196920145	196920145	Human	1	name
127230463	CV1090557	single nucleotide variant	NM_024989.4(PGAP1):c.1209C>T (p.Ser403=)	Intellectual disability, autosomal recessive 42 [RCV001423999]	likely benign	2	196885845	196885845	Human	1	name
127230527	CV1090558	single nucleotide variant	NM_024989.4(PGAP1):c.1008T>C (p.Asn336=)	Intellectual disability, autosomal recessive 42 [RCV001443927]	likely benign	2	196893165	196893165	Human	1	name
151756028	CV1336150	single nucleotide variant	NM_024989.4(PGAP1):c.1638A>G (p.Glu546=)	Hereditary spastic paraplegia [RCV001848550]\|Intellectual disability, autosomal recessive 42 [RCV002074418]	likely benign\|uncertain significance	2	196872531	196872531	Human	2	name
151756041	CV1336152	single nucleotide variant	NM_024989.4(PGAP1):c.179G>A (p.Arg60His)	Hereditary spastic paraplegia [RCV001848552]	uncertain significance	2	196920119	196920119	Human	1	name
151756064	CV1336155	single nucleotide variant	NM_024989.4(PGAP1):c.2388C>T (p.Asp796=)	Hereditary spastic paraplegia [RCV001848555]\|Intellectual disability, autosomal recessive 42 [RCV002543416]	likely benign\|uncertain significance	2	196844025	196844025	Human	2	name
151828677	CV1362270	single nucleotide variant	NM_024989.4(PGAP1):c.1230G>T (p.Gly410=)	Intellectual disability, autosomal recessive 42 [RCV001979034]	likely benign\|uncertain significance	2	196885466	196885466	Human	1	name
151714287	CV1369141	single nucleotide variant	NM_024989.4(PGAP1):c.124A>G (p.Met42Val)	Intellectual disability, autosomal recessive 42 [RCV002015254]\|not provided [RCV004785441]	uncertain significance	2	196926493	196926493	Human	1	name
151811362	CV1398900	single nucleotide variant	NM_024989.4(PGAP1):c.100G>A (p.Glu34Lys)	Inborn genetic diseases [RCV004656692]\|Intellectual disability, autosomal recessive 42 [RCV001942847]	uncertain significance	2	196926517	196926517	Human	2	name
151821867	CV1498167	insertion	NM_024989.4(PGAP1):c.1350+4_1350+5insAAA	Intellectual disability, autosomal recessive 42 [RCV001965801]	uncertain significance	2	196880071	196880072	Human	1	name
152174268	CV1536236	single nucleotide variant	NM_024989.4(PGAP1):c.2073G>A (p.Thr691=)	Intellectual disability, autosomal recessive 42 [RCV002144381]	likely benign	2	196847080	196847080	Human	1	name
152105045	CV1536623	single nucleotide variant	NM_024989.4(PGAP1):c.2724T>C (p.Phe908=)	Intellectual disability, autosomal recessive 42 [RCV002173600]	likely benign	2	196841279	196841279	Human	1	name
152101632	CV1546995	single nucleotide variant	NM_024989.4(PGAP1):c.2199C>T (p.Pro733=)	Intellectual disability, autosomal recessive 42 [RCV002151881]	likely benign	2	196845969	196845969	Human	1	name
156408319	CV1869951	single nucleotide variant	NM_024989.4(PGAP1):c.1182T>C (p.Asn394=)	Intellectual disability, autosomal recessive 42 [RCV003071220]	likely benign	2	196885872	196885872	Human	1	name
156188226	CV1882640	single nucleotide variant	NM_024989.4(PGAP1):c.2709T>C (p.Tyr903=)	Intellectual disability, autosomal recessive 42 [RCV003083786]	likely benign	2	196841294	196841294	Human	1	name
156122119	CV1969235	single nucleotide variant	NM_024989.4(PGAP1):c.1743T>A (p.Thr581=)	Intellectual disability, autosomal recessive 42 [RCV002593171]	likely benign	2	196870965	196870965	Human	1	name
156392724	CV1987734	single nucleotide variant	NM_024989.4(PGAP1):c.1113A>G (p.Thr371=)	Intellectual disability, autosomal recessive 42 [RCV002635146]	likely benign	2	196890888	196890888	Human	1	name
156011835	CV2016766	single nucleotide variant	NM_024989.4(PGAP1):c.1953G>C (p.Gly651=)	Intellectual disability, autosomal recessive 42 [RCV002734935]	uncertain significance	2	196847200	196847200	Human	1	name
156224036	CV2037840	single nucleotide variant	NM_024989.4(PGAP1):c.251C>T (p.Thr84Met)	Intellectual disability, autosomal recessive 42 [RCV002790739]	uncertain significance	2	196920047	196920047	Human	1	name
155908188	CV2044518	single nucleotide variant	NM_024989.4(PGAP1):c.2352T>C (p.Ser784=)	Intellectual disability, autosomal recessive 42 [RCV002771387]	likely benign	2	196844061	196844061	Human	1	name
156145936	CV2090882	single nucleotide variant	NM_024989.4(PGAP1):c.104A>G (p.Asn35Ser)	Intellectual disability, autosomal recessive 42 [RCV002890484]	uncertain significance	2	196926513	196926513	Human	1	name
156209216	CV2103957	single nucleotide variant	NM_024989.4(PGAP1):c.2301A>G (p.Gln767=)	Intellectual disability, autosomal recessive 42 [RCV002931992]	likely benign	2	196844560	196844560	Human	1	name
405005238	CV2848833	single nucleotide variant	NM_024989.4(PGAP1):c.1272G>A (p.Lys424=)	Intellectual disability, autosomal recessive 42 [RCV003492886]	likely pathogenic	2	196885424	196885424	Human	1	name
405148893	CV2862044	single nucleotide variant	NM_024989.4(PGAP1):c.2040C>T (p.Pro680=)	Intellectual disability, autosomal recessive 42 [RCV003585469]	likely benign	2	196847113	196847113	Human	1	name
405150643	CV2885245	single nucleotide variant	NM_024989.4(PGAP1):c.1362T>C (p.Asp454=)	Intellectual disability, autosomal recessive 42 [RCV003585623]	likely benign	2	196875810	196875810	Human	1	name
405140764	CV2886991	single nucleotide variant	NM_024989.4(PGAP1):c.2137C>T (p.Leu713=)	Intellectual disability, autosomal recessive 42 [RCV003584091]	likely benign	2	196847016	196847016	Human	1	name
405141350	CV2896113	single nucleotide variant	NM_024989.4(PGAP1):c.1458A>C (p.Thr486=)	Intellectual disability, autosomal recessive 42 [RCV003584152]	likely benign	2	196873727	196873727	Human	1	name
405248498	CV2954057	single nucleotide variant	NM_024989.4(PGAP1):c.1617A>G (p.Ala539=)	Intellectual disability, autosomal recessive 42 [RCV003746815]	likely benign	2	196872962	196872962	Human	1	name
405249719	CV3001605	single nucleotide variant	NM_024989.4(PGAP1):c.1869C>T (p.Cys623=)	Intellectual disability, autosomal recessive 42 [RCV003747246]	likely benign	2	196848030	196848030	Human	1	name
405140771	CV3125842	single nucleotide variant	NM_024989.4(PGAP1):c.1755A>G (p.Gln585=)	Intellectual disability, autosomal recessive 42 [RCV003816757]	likely benign	2	196870953	196870953	Human	1	name
407528938	CV3466866	single nucleotide variant	NM_024989.4(PGAP1):c.115A>G (p.Met39Val)	Inborn genetic diseases [RCV004655787]	uncertain significance	2	196926502	196926502	Human	1	name
408367384	CV3512254	single nucleotide variant	NM_024989.4(PGAP1):c.1650A>G (p.Lys550=)	PGAP1-related disorder [RCV004758462]	likely benign	2	196872519	196872519	Human		name , trait , alternate_id
597943236	CV3757941	single nucleotide variant	NM_024989.4(PGAP1):c.2742A>G (p.Leu914=)	Intellectual disability, autosomal recessive 42 [RCV005077940]	likely benign	2	196841261	196841261	Human	1	name
597830991	CV3820180	single nucleotide variant	NM_024989.4(PGAP1):c.1671A>G (p.Glu557=)	Intellectual disability, autosomal recessive 42 [RCV005169958]	likely benign	2	196872498	196872498	Human	1	name
597947896	CV3852373	single nucleotide variant	NM_024989.4(PGAP1):c.1614T>C (p.Ile538=)	Intellectual disability, autosomal recessive 42 [RCV005189450]	likely benign	2	196872965	196872965	Human	1	name
597925049	CV3863157	single nucleotide variant	NM_024989.4(PGAP1):c.1383G>A (p.Glu461=)	Intellectual disability, autosomal recessive 42 [RCV005205645]	likely benign	2	196875789	196875789	Human	1	name
598262278	CV3999774	single nucleotide variant	NM_024989.4(PGAP1):c.212A>C (p.Glu71Ala)	Inborn genetic diseases [RCV005387056]	uncertain significance	2	196920086	196920086	Human	1	name
13216246	CV427972	single nucleotide variant	NM_024989.4(PGAP1):c.1948T>C (p.Leu650=)	not specified [RCV000503530]	likely benign	2	196847951	196847951	Human		name
13216371	CV427975	single nucleotide variant	NM_024989.4(PGAP1):c.1494T>C (p.Phe498=)	Intellectual disability, autosomal recessive 42 [RCV003746530]\|not provided [RCV003884581]\|not specified [RCV000503518]	likely benign	2	196873691	196873691	Human	1	name
13494197	CV450174	single nucleotide variant	NM_024989.4(PGAP1):c.2007C>T (p.Ala669=)	Hereditary spastic paraplegia [RCV001848972]\|Intellectual disability, autosomal recessive 42 [RCV000558716]\|not provided [RCV001619788]	benign	2	196847146	196847146	Human	2	name
15146433	CV690994	single nucleotide variant	NM_024989.4(PGAP1):c.2655A>G (p.Gln885=)	Intellectual disability, autosomal recessive 42 [RCV002064917]	likely benign	2	196841348	196841348	Human	1	name
15118466	CV690996	single nucleotide variant	NM_024989.4(PGAP1):c.2604T>C (p.Asn868=)	Hereditary spastic paraplegia [RCV001847093]\|Intellectual disability, autosomal recessive 42 [RCV000873699]\|PGAP1-related disorder [RCV003920426]\|not provided [RCV002221593]	benign\|likely benign	2	196842747	196842747	Human	2	name , trait , alternate_id
15121404	CV690997	single nucleotide variant	NM_024989.4(PGAP1):c.2313A>G (p.Thr771=)	Intellectual disability, autosomal recessive 42 [RCV002539181]	likely benign	2	196844548	196844548	Human	1	name
15142232	CV690999	single nucleotide variant	NM_024989.4(PGAP1):c.2100G>A (p.Leu700=)	Intellectual disability, autosomal recessive 42 [RCV000877826]\|PGAP1-related disorder [RCV003930451]\|not provided [RCV003432856]	benign\|likely benign	2	196847053	196847053	Human	1	name , trait , alternate_id
15131130	CV691000	single nucleotide variant	NM_024989.4(PGAP1):c.1848T>C (p.Ser616=)	Intellectual disability, autosomal recessive 42 [RCV000875932]	benign	2	196865000	196865000	Human	1	name
15118545	CV691001	single nucleotide variant	NM_024989.4(PGAP1):c.187G>A (p.Ala63Thr)	Intellectual disability, autosomal recessive 42 [RCV000873711]	likely benign	2	196920111	196920111	Human	1	name
15104853	CV719504	single nucleotide variant	NM_024989.4(PGAP1):c.2421C>T (p.Asn807=)	Intellectual disability, autosomal recessive 42 [RCV002065588]	likely benign	2	196843992	196843992	Human	1	name
15128261	CV762757	single nucleotide variant	NM_024989.4(PGAP1):c.1062G>A (p.Val354=)	Intellectual disability, autosomal recessive 42 [RCV000941688]	likely benign	2	196892373	196892373	Human	1	name
26900836	CV825535	single nucleotide variant	NM_024989.4(PGAP1):c.1953G>A (p.Gly651=)	Inborn genetic diseases [RCV004960373]\|Intellectual disability, autosomal recessive 42 [RCV001054228]\|not provided [RCV003222206]	likely benign\|uncertain significance	2	196847200	196847200	Human	2	name
26898024	CV825536	single nucleotide variant	NM_024989.4(PGAP1):c.1089C>T (p.Asn363=)	Intellectual disability, autosomal recessive 42 [RCV001035222]	uncertain significance	2	196892346	196892346	Human	1	name
40887160	CV973270	deletion	NM_024989.4(PGAP1):c.668del (p.Asn223fs)	Inborn genetic diseases [RCV001266609]	pathogenic	2	196902724	196902724	Human	1	name
126917728	CV1040962	single nucleotide variant	NM_024989.4(PGAP1):c.442C>T (p.His148Tyr)	Intellectual disability, autosomal recessive 42 [RCV001361333]	uncertain significance	2	196916453	196916453	Human	1	name
151350676	CV1324800	single nucleotide variant	NM_024989.4(PGAP1):c.843C>A (p.Asp281Glu)	Intellectual disability, autosomal recessive 42 [RCV001809245]	uncertain significance	2	196898334	196898334	Human	1	name
151756128	CV1336163	single nucleotide variant	NM_024989.4(PGAP1):c.659C>G (p.Thr220Arg)	Hereditary spastic paraplegia [RCV001848563]	uncertain significance	2	196902733	196902733	Human	1	name
151802055	CV1392480	single nucleotide variant	NM_024989.4(PGAP1):c.892G>A (p.Ala298Thr)	Intellectual disability, autosomal recessive 42 [RCV001925227]	uncertain significance	2	196897166	196897166	Human	1	name
156286157	CV1884839	single nucleotide variant	NM_024989.4(PGAP1):c.583A>C (p.Asn195His)	Intellectual disability, autosomal recessive 42 [RCV003061253]	uncertain significance	2	196912948	196912948	Human	1	name
156319266	CV1897704	single nucleotide variant	NM_024989.4(PGAP1):c.857T>C (p.Val286Ala)	Intellectual disability, autosomal recessive 42 [RCV002579138]	uncertain significance	2	196898320	196898320	Human	1	name
156418496	CV1922239	single nucleotide variant	NM_024989.4(PGAP1):c.416G>A (p.Ser139Asn)	Intellectual disability, autosomal recessive 42 [RCV002611693]	uncertain significance	2	196916479	196916479	Human	1	name
156236297	CV1952798	single nucleotide variant	NM_024989.4(PGAP1):c.334G>T (p.Ala112Ser)	Intellectual disability, autosomal recessive 42 [RCV002576066]	uncertain significance	2	196916561	196916561	Human	1	name
155908081	CV2027757	single nucleotide variant	NM_024989.4(PGAP1):c.386A>G (p.Asn129Ser)	Inborn genetic diseases [RCV003167674]\|Intellectual disability, autosomal recessive 42 [RCV002726599]	uncertain significance	2	196916509	196916509	Human	2	name
156324912	CV2032374	single nucleotide variant	NM_024989.4(PGAP1):c.709A>C (p.Thr237Pro)	Intellectual disability, autosomal recessive 42 [RCV002717348]	uncertain significance	2	196902683	196902683	Human	1	name
155946903	CV2035948	single nucleotide variant	NM_024989.4(PGAP1):c.749G>A (p.Arg250His)	Intellectual disability, autosomal recessive 42 [RCV002775538]\|not provided [RCV005250256]	uncertain significance	2	196902643	196902643	Human	1	name
156100376	CV2042161	inversion	NM_024989.4(PGAP1):c.16_17inv (p.Val6Thr)	Intellectual disability, autosomal recessive 42 [RCV002761298]	uncertain significance	2	196926600	196926601	Human		name
156116830	CV2042804	single nucleotide variant	NM_024989.4(PGAP1):c.502G>A (p.Val168Met)	Inborn genetic diseases [RCV004958757]\|Intellectual disability, autosomal recessive 42 [RCV002800066]	uncertain significance	2	196913029	196913029	Human	2	name
155989651	CV2053188	single nucleotide variant	NM_024989.4(PGAP1):c.749G>C (p.Arg250Pro)	Intellectual disability, autosomal recessive 42 [RCV002819146]	uncertain significance	2	196902643	196902643	Human	1	name
156329497	CV2065091	single nucleotide variant	NM_024989.4(PGAP1):c.525G>A (p.Met175Ile)	Inborn genetic diseases [RCV005398992]\|Intellectual disability, autosomal recessive 42 [RCV002835213]	uncertain significance	2	196913006	196913006	Human	2	name
156013165	CV2076317	single nucleotide variant	NM_024989.4(PGAP1):c.511A>G (p.Ile171Val)	Intellectual disability, autosomal recessive 42 [RCV002866213]	uncertain significance	2	196913020	196913020	Human	1	name
156087986	CV2095250	single nucleotide variant	NM_024989.4(PGAP1):c.734G>A (p.Arg245Gln)	Intellectual disability, autosomal recessive 42 [RCV002912933]	uncertain significance	2	196902658	196902658	Human	1	name
155990959	CV2095468	single nucleotide variant	NM_024989.4(PGAP1):c.790A>G (p.Ser264Gly)	Intellectual disability, autosomal recessive 42 [RCV002908157]	uncertain significance	2	196902602	196902602	Human	1	name
156233028	CV2112578	single nucleotide variant	NM_024989.4(PGAP1):c.497A>G (p.Lys166Arg)	Intellectual disability, autosomal recessive 42 [RCV002932908]	uncertain significance	2	196913034	196913034	Human	1	name
155938828	CV2229107	single nucleotide variant	NM_024989.4(PGAP1):c.781C>T (p.His261Tyr)	Inborn genetic diseases [RCV002751649]	uncertain significance	2	196902611	196902611	Human	1	name
156203280	CV2256300	single nucleotide variant	NM_024989.4(PGAP1):c.425A>C (p.Lys142Thr)	Inborn genetic diseases [RCV002803594]	uncertain significance	2	196916470	196916470	Human	1	name
156034383	CV2282891	single nucleotide variant	NM_024989.4(PGAP1):c.698T>G (p.Ile233Arg)	Inborn genetic diseases [RCV002845623]	uncertain significance	2	196902694	196902694	Human	1	name
156002637	CV2288085	single nucleotide variant	NM_024989.4(PGAP1):c.881C>A (p.Thr294Asn)	Inborn genetic diseases [RCV002865496]	uncertain significance	2	196897177	196897177	Human	1	name
156269732	CV2315041	single nucleotide variant	NM_024989.4(PGAP1):c.439G>A (p.Val147Ile)	Inborn genetic diseases [RCV002934258]	uncertain significance	2	196916456	196916456	Human	1	name
156003829	CV2396816	single nucleotide variant	NM_024989.4(PGAP1):c.745G>A (p.Val249Ile)	Inborn genetic diseases [RCV002734385]	uncertain significance	2	196902647	196902647	Human	1	name
405143507	CV2923845	deletion	NM_024989.4(PGAP1):c.1867del (p.Cys623fs)	Intellectual disability, autosomal recessive 42 [RCV003584394]	pathogenic	2	196848032	196848032	Human	1	name
405247493	CV3050457	single nucleotide variant	NM_024989.4(PGAP1):c.908T>C (p.Ile303Thr)	Intellectual disability, autosomal recessive 42 [RCV003746391]	uncertain significance	2	196897150	196897150	Human	1	name
405701501	CV3225995	single nucleotide variant	NM_024989.4(PGAP1):c.721G>C (p.Ala241Pro)	Intellectual disability, autosomal recessive 42 [RCV003989437]	uncertain significance	2	196902671	196902671	Human	1	name
405746745	CV3368606	single nucleotide variant	NM_024989.4(PGAP1):c.322G>A (p.Ala108Thr)	Inborn genetic diseases [RCV004498504]	uncertain significance	2	196916573	196916573	Human	1	name
405746753	CV3368607	single nucleotide variant	NM_024989.4(PGAP1):c.334G>C (p.Ala112Pro)	Inborn genetic diseases [RCV004498505]	uncertain significance	2	196916561	196916561	Human	1	name
405746759	CV3368608	single nucleotide variant	NM_024989.4(PGAP1):c.344T>C (p.Ile115Thr)	Inborn genetic diseases [RCV004498506]	uncertain significance	2	196916551	196916551	Human	1	name
405746772	CV3368610	single nucleotide variant	NM_024989.4(PGAP1):c.496A>G (p.Lys166Glu)	Inborn genetic diseases [RCV004498508]	uncertain significance	2	196913035	196913035	Human	1	name
405746778	CV3368611	single nucleotide variant	NM_024989.4(PGAP1):c.518A>G (p.His173Arg)	Inborn genetic diseases [RCV004498509]	uncertain significance	2	196913013	196913013	Human	1	name
407528935	CV3466864	single nucleotide variant	NM_024989.4(PGAP1):c.890G>A (p.Arg297Gln)	Inborn genetic diseases [RCV004655785]	uncertain significance	2	196897168	196897168	Human	1	name
597714067	CV3575888	single nucleotide variant	NM_024989.4(PGAP1):c.304C>T (p.Arg102Cys)	Inborn genetic diseases [RCV004959507]	uncertain significance	2	196916591	196916591	Human	1	name
598262291	CV3999779	single nucleotide variant	NM_024989.4(PGAP1):c.385A>G (p.Asn129Asp)	Inborn genetic diseases [RCV005387060]	uncertain significance	2	196916510	196916510	Human	1	name
13216336	CV427979	single nucleotide variant	NM_024989.4(PGAP1):c.692G>A (p.Arg231Gln)	Intellectual disability, autosomal recessive 42 [RCV001857152]\|not specified [RCV000503638]	uncertain significance	2	196902700	196902700	Human	1	name
13213612	CV427980	single nucleotide variant	NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)	Hereditary spastic paraplegia [RCV001848874]\|Intellectual disability, autosomal recessive 42 [RCV000705226]\|not provided [RCV000997638]\|not specified [RCV000500227]	uncertain significance	2	196916564	196916564	Human	2	name
13486291	CV443129	single nucleotide variant	NM_024989.4(PGAP1):c.691C>T (p.Arg231Ter)	See cases [RCV002252152]\|not provided [RCV000522861]	pathogenic\|likely pathogenic	2	196902701	196902701	Human		name
13495703	CV450375	single nucleotide variant	NM_024989.4(PGAP1):c.427C>T (p.Gln143Ter)	Intellectual disability, autosomal recessive 42 [RCV000537324]	pathogenic	2	196916468	196916468	Human	1	name
13704819	CV538959	single nucleotide variant	NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp)	Intellectual disability, autosomal recessive 42 [RCV000662047]	uncertain significance	2	196916556	196916556	Human	1	name
14397122	CV612585	single nucleotide variant	NM_024989.4(PGAP1):c.659C>T (p.Thr220Met)	Inborn genetic diseases [RCV002533899]\|Intellectual disability, autosomal recessive 42 [RCV001855952]\|not provided [RCV000762308]	likely benign\|uncertain significance	2	196902733	196902733	Human	2	name
14708213	CV629255	single nucleotide variant	NM_024989.4(PGAP1):c.911A>T (p.Asp304Val)	Intellectual disability, autosomal recessive 42 [RCV000818444]\|not provided [RCV003442112]	uncertain significance	2	196897147	196897147	Human	1	name
15177171	CV697227	single nucleotide variant	NM_024989.4(PGAP1):c.310A>G (p.Ile104Val)	Intellectual disability, autosomal recessive 42 [RCV000950983]\|PGAP1-related disorder [RCV003903216]\|not provided [RCV004711446]	likely benign	2	196916585	196916585	Human	1	name , trait , alternate_id
26903494	CV825537	single nucleotide variant	NM_024989.4(PGAP1):c.695A>G (p.His232Arg)	Intellectual disability, autosomal recessive 42 [RCV001069857]	uncertain significance	2	196902697	196902697	Human	1	name
28889599	CV903514	single nucleotide variant	NM_024989.4(PGAP1):c.776T>G (p.Leu259Ter)	Intellectual disability, autosomal recessive 42 [RCV001169901]	pathogenic	2	196902616	196902616	Human	1	name
40815461	CV970731	deletion	NM_024989.4(PGAP1):c.2042del (p.Leu681fs)	Inborn genetic diseases [RCV002537640]\|Intellectual disability, autosomal recessive 42 [RCV001262862]	pathogenic\|likely pathogenic	2	196847111	196847111	Human	2	name
126748038	CV988280	single nucleotide variant	NM_024989.4(PGAP1):c.479G>A (p.Gly160Asp)	Inborn genetic diseases [RCV004960730]\|Intellectual disability, autosomal recessive 42 [RCV001306357]	uncertain significance	2	196913052	196913052	Human	2	name
126740215	CV1015949	single nucleotide variant	NM_024989.4(PGAP1):c.1882A>G (p.Thr628Ala)	Intellectual disability, autosomal recessive 42 [RCV001329384]	uncertain significance	2	196848017	196848017	Human	1	name
126733205	CV1019523	single nucleotide variant	NM_024989.4(PGAP1):c.2128T>C (p.Ser710Pro)	Intellectual disability, autosomal recessive 42 [RCV001334246]	uncertain significance	2	196847025	196847025	Human	1	name
126733202	CV1019524	single nucleotide variant	NM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter)	Intellectual disability, autosomal recessive 42 [RCV001334245]	pathogenic\|likely pathogenic	2	196872506	196872506	Human	1	name
126918288	CV1040961	single nucleotide variant	NM_024989.4(PGAP1):c.2004T>A (p.Asp668Glu)	Intellectual disability, autosomal recessive 42 [RCV001372570]	uncertain significance	2	196847149	196847149	Human	1	name
127290408	CV1153933	single nucleotide variant	NM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser)	Hereditary spastic paraplegia [RCV001847289]\|Inborn genetic diseases [RCV002564304]\|Intellectual disability, autosomal recessive 42 [RCV001509828]	benign\|likely benign	2	196841269	196841269	Human	3	name
127316655	CV1153934	single nucleotide variant	NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val)	Hereditary spastic paraplegia [RCV001847294]\|Inborn genetic diseases [RCV003284363]\|Intellectual disability, autosomal recessive 42 [RCV001520621]\|PGAP1-related disorder [RCV003931120]	benign\|likely benign\|uncertain significance	2	196843946	196843946	Human	3	name , trait , alternate_id
151350674	CV1324799	single nucleotide variant	NM_024989.4(PGAP1):c.1352T>A (p.Phe451Tyr)	Hereditary spastic paraplegia [RCV001847334]\|Inborn genetic diseases [RCV002542446]\|Intellectual disability, autosomal recessive 42 [RCV001809244]	uncertain significance	2	196875820	196875820	Human	3	name
151354096	CV1327648	single nucleotide variant	NM_024989.4(PGAP1):c.2440C>T (p.Arg814Cys)	Inborn genetic diseases [RCV005382184]\|not specified [RCV001817592]	uncertain significance	2	196843973	196843973	Human	1	name
151354644	CV1327711	single nucleotide variant	NM_024989.4(PGAP1):c.1969G>A (p.Glu657Lys)	not specified [RCV001819186]	uncertain significance	2	196847184	196847184	Human		name
151756037	CV1336151	single nucleotide variant	NM_024989.4(PGAP1):c.1723T>C (p.Tyr575His)	Hereditary spastic paraplegia [RCV001848551]	uncertain significance	2	196872446	196872446	Human	1	name
151756048	CV1336153	single nucleotide variant	NM_024989.4(PGAP1):c.1892A>G (p.Asp631Gly)	Hereditary spastic paraplegia [RCV001848553]	uncertain significance	2	196848007	196848007	Human	1	name
151756057	CV1336154	single nucleotide variant	NM_024989.4(PGAP1):c.2174T>A (p.Ile725Asn)	Hereditary spastic paraplegia [RCV001848554]\|Inborn genetic diseases [RCV002543415]\|Intellectual disability, autosomal recessive 42 [RCV002543414]	uncertain significance	2	196845994	196845994	Human	3	name
151756083	CV1336157	single nucleotide variant	NM_024989.4(PGAP1):c.2393C>T (p.Ser798Leu)	Hereditary spastic paraplegia [RCV001848557]\|Inborn genetic diseases [RCV005382191]	uncertain significance	2	196844020	196844020	Human	2	name
151791662	CV1408999	single nucleotide variant	NM_024989.4(PGAP1):c.2551C>T (p.Pro851Ser)	Intellectual disability, autosomal recessive 42 [RCV001905435]	uncertain significance	2	196842800	196842800	Human	1	name
151833610	CV1413096	single nucleotide variant	NM_024989.4(PGAP1):c.2587A>G (p.Met863Val)	Intellectual disability, autosomal recessive 42 [RCV001989875]	uncertain significance	2	196842764	196842764	Human	1	name
151829932	CV1419079	single nucleotide variant	NM_024989.4(PGAP1):c.2045T>C (p.Ile682Thr)	Intellectual disability, autosomal recessive 42 [RCV001982244]	uncertain significance	2	196847108	196847108	Human	1	name
151714656	CV1458902	single nucleotide variant	NM_024989.4(PGAP1):c.1843T>A (p.Tyr615Asn)	Inborn genetic diseases [RCV004046712]\|Intellectual disability, autosomal recessive 42 [RCV002016708]\|not provided [RCV003329430]	uncertain significance	2	196865005	196865005	Human	2	name
151794702	CV1489482	single nucleotide variant	NM_024989.4(PGAP1):c.2351C>G (p.Ser784Cys)	Intellectual disability, autosomal recessive 42 [RCV001910822]	uncertain significance	2	196844062	196844062	Human	1	name
151716536	CV1498906	single nucleotide variant	NM_024989.4(PGAP1):c.2548G>T (p.Asp850Tyr)	Intellectual disability, autosomal recessive 42 [RCV002023812]	uncertain significance	2	196842803	196842803	Human	1	name
155643461	CV1706739	single nucleotide variant	NM_024989.4(PGAP1):c.2438T>C (p.Leu813Pro)	See cases [RCV002287814]	uncertain significance	2	196843975	196843975	Human		name
155643471	CV1706744	single nucleotide variant	NM_024989.4(PGAP1):c.2165C>T (p.Pro722Leu)	See cases [RCV002287819]	uncertain significance	2	196846003	196846003	Human		name
155732820	CV1781052	single nucleotide variant	NM_024989.4(PGAP1):c.1999T>A (p.Leu667Ile)	not provided [RCV002308840]	uncertain significance	2	196847154	196847154	Human		name
155720769	CV1781268	single nucleotide variant	NM_024989.4(PGAP1):c.1042A>G (p.Met348Val)	Inborn genetic diseases [RCV004047726]\|not provided [RCV002306344]	uncertain significance	2	196892393	196892393	Human	1	name
155803665	CV1858230	single nucleotide variant	NM_024989.4(PGAP1):c.1550A>G (p.Lys517Arg)	not provided [RCV002462539]	uncertain significance	2	196873530	196873530	Human		name
156009462	CV1870716	single nucleotide variant	NM_024989.4(PGAP1):c.2136G>C (p.Trp712Cys)	Intellectual disability, autosomal recessive 42 [RCV003077001]	uncertain significance	2	196847017	196847017	Human	1	name
155979268	CV1886312	single nucleotide variant	NM_024989.4(PGAP1):c.1078G>A (p.Val360Ile)	Intellectual disability, autosomal recessive 42 [RCV003075570]	uncertain significance	2	196892357	196892357	Human	1	name
156125912	CV1889028	single nucleotide variant	NM_024989.4(PGAP1):c.2371T>C (p.Ser791Pro)	Intellectual disability, autosomal recessive 42 [RCV003081634]	uncertain significance	2	196844042	196844042	Human	1	name
156409963	CV1891827	single nucleotide variant	NM_024989.4(PGAP1):c.2327G>A (p.Ser776Asn)	Intellectual disability, autosomal recessive 42 [RCV003071880]	uncertain significance	2	196844534	196844534	Human	1	name
156259933	CV1906473	single nucleotide variant	NM_024989.4(PGAP1):c.2372C>T (p.Ser791Phe)	Intellectual disability, autosomal recessive 42 [RCV003086403]	uncertain significance	2	196844041	196844041	Human	1	name
156310981	CV1913518	single nucleotide variant	NM_024989.4(PGAP1):c.1981G>C (p.Val661Leu)	Intellectual disability, autosomal recessive 42 [RCV002599654]	uncertain significance	2	196847172	196847172	Human	1	name
156046647	CV1927132	single nucleotide variant	NM_024989.4(PGAP1):c.2107G>A (p.Ala703Thr)	Inborn genetic diseases [RCV005399142]\|Intellectual disability, autosomal recessive 42 [RCV002637785]	likely benign\|uncertain significance	2	196847046	196847046	Human	2	name
156214851	CV1930962	single nucleotide variant	NM_024989.4(PGAP1):c.1208G>A (p.Ser403Asn)	Intellectual disability, autosomal recessive 42 [RCV002644154]	uncertain significance	2	196885846	196885846	Human	1	name
156449909	CV1938419	single nucleotide variant	NM_024989.4(PGAP1):c.1496G>A (p.Gly499Glu)	Intellectual disability, autosomal recessive 42 [RCV003122040]	uncertain significance	2	196873689	196873689	Human	1	name
156437628	CV1947635	single nucleotide variant	NM_024989.4(PGAP1):c.2614G>A (p.Val872Ile)	Intellectual disability, autosomal recessive 42 [RCV003107168]	uncertain significance	2	196842737	196842737	Human	1	name
156120487	CV1969150	single nucleotide variant	NM_024989.4(PGAP1):c.2537A>T (p.Lys846Ile)	Inborn genetic diseases [RCV002593109]\|Intellectual disability, autosomal recessive 42 [RCV002593108]	uncertain significance	2	196842814	196842814	Human	2	name
156117488	CV1972895	single nucleotide variant	NM_024989.4(PGAP1):c.2141C>T (p.Ala714Val)	Inborn genetic diseases [RCV004064607]\|Intellectual disability, autosomal recessive 42 [RCV002593003]	uncertain significance	2	196847012	196847012	Human	2	name
155974037	CV1974933	single nucleotide variant	NM_024989.4(PGAP1):c.1382A>G (p.Glu461Gly)	Intellectual disability, autosomal recessive 42 [RCV002617310]\|not provided [RCV004725323]	uncertain significance	2	196875790	196875790	Human	1	name
156399623	CV1984980	single nucleotide variant	NM_024989.4(PGAP1):c.2332C>A (p.Pro778Thr)	Intellectual disability, autosomal recessive 42 [RCV002605475]	uncertain significance	2	196844529	196844529	Human	1	name
156166147	CV1986336	single nucleotide variant	NM_024989.4(PGAP1):c.1706C>T (p.Thr569Met)	Inborn genetic diseases [RCV005382446]\|Intellectual disability, autosomal recessive 42 [RCV002642581]\|Neurodevelopmental disorder [RCV003389082]	uncertain significance	2	196872463	196872463	Human	3	name
156400048	CV2013242	single nucleotide variant	NM_024989.4(PGAP1):c.2764A>G (p.Met922Val)	Intellectual disability, autosomal recessive 42 [RCV002725918]	uncertain significance	2	196841239	196841239	Human	1	name
155908337	CV2027778	single nucleotide variant	NM_024989.4(PGAP1):c.1397A>G (p.Gln466Arg)	Intellectual disability, autosomal recessive 42 [RCV002726616]	uncertain significance	2	196875775	196875775	Human	1	name
156229415	CV2043361	single nucleotide variant	NM_024989.4(PGAP1):c.1521C>G (p.Ile507Met)	Intellectual disability, autosomal recessive 42 [RCV002805255]	uncertain significance	2	196873559	196873559	Human	1	name
156194738	CV2099151	single nucleotide variant	NM_024989.4(PGAP1):c.1621G>A (p.Ala541Thr)	Intellectual disability, autosomal recessive 42 [RCV002917571]	likely benign	2	196872548	196872548	Human	1	name
155936211	CV2114182	single nucleotide variant	NM_024989.4(PGAP1):c.2072C>T (p.Thr691Met)	Intellectual disability, autosomal recessive 42 [RCV002904154]	uncertain significance	2	196847081	196847081	Human	1	name
156389794	CV2122346	single nucleotide variant	NM_024989.4(PGAP1):c.1085A>T (p.Tyr362Phe)	Intellectual disability, autosomal recessive 42 [RCV002943777]	uncertain significance	2	196892350	196892350	Human	1	name
155992227	CV2125900	single nucleotide variant	NM_024989.4(PGAP1):c.1346G>A (p.Ser449Asn)	Intellectual disability, autosomal recessive 42 [RCV002974784]	uncertain significance	2	196880080	196880080	Human	1	name
156304205	CV2129663	single nucleotide variant	NM_024989.4(PGAP1):c.2018C>T (p.Thr673Ile)	Intellectual disability, autosomal recessive 42 [RCV002962283]	uncertain significance	2	196847135	196847135	Human	1	name
155986789	CV2136988	single nucleotide variant	NM_024989.4(PGAP1):c.2314A>G (p.Thr772Ala)	Inborn genetic diseases [RCV002996371]\|Intellectual disability, autosomal recessive 42 [RCV002996370]	uncertain significance	2	196844547	196844547	Human	2	name
155956272	CV2162687	single nucleotide variant	NM_024989.4(PGAP1):c.2441G>A (p.Arg814His)	Inborn genetic diseases [RCV004960911]\|Intellectual disability, autosomal recessive 42 [RCV003015117]\|not provided [RCV003542376]	uncertain significance	2	196843972	196843972	Human	2	name
156035080	CV2182446	single nucleotide variant	NM_024989.4(PGAP1):c.1036A>T (p.Thr346Ser)	Intellectual disability, autosomal recessive 42 [RCV003036344]	uncertain significance	2	196892399	196892399	Human	1	name
156113604	CV2212724	single nucleotide variant	NM_024989.4(PGAP1):c.1948T>A (p.Leu650Met)	Inborn genetic diseases [RCV002707368]	uncertain significance	2	196847951	196847951	Human	1	name
11040434	CV224698	single nucleotide variant	NM_024989.4(PGAP1):c.1572T>A (p.Tyr524Ter)	Intellectual disability, autosomal recessive 42 [RCV000208580]	pathogenic	2	196873007	196873007	Human	1	name
11040430	CV224699	single nucleotide variant	NM_024989.4(PGAP1):c.1396C>T (p.Gln466Ter)	Intellectual disability, autosomal recessive 42 [RCV000208575]\|not provided [RCV003128596]	pathogenic\|likely pathogenic	2	196875776	196875776	Human	1	name
156304643	CV2252523	single nucleotide variant	NM_024989.4(PGAP1):c.1844A>G (p.Tyr615Cys)	Inborn genetic diseases [RCV002808417]	uncertain significance	2	196865004	196865004	Human	1	name
156100432	CV2260254	single nucleotide variant	NM_024989.4(PGAP1):c.1958A>C (p.Lys653Thr)	Inborn genetic diseases [RCV002799089]	uncertain significance	2	196847195	196847195	Human	1	name
156006634	CV2299592	single nucleotide variant	NM_024989.4(PGAP1):c.2513T>C (p.Leu838Pro)	Inborn genetic diseases [RCV002883726]	uncertain significance	2	196843900	196843900	Human	1	name
156191508	CV2301813	single nucleotide variant	NM_024989.4(PGAP1):c.1877A>G (p.Tyr626Cys)	Inborn genetic diseases [RCV002892567]	uncertain significance	2	196848022	196848022	Human	1	name
156156513	CV2393495	single nucleotide variant	NM_024989.4(PGAP1):c.2008G>A (p.Val670Ile)	Inborn genetic diseases [RCV002709982]	likely benign	2	196847145	196847145	Human	1	name
243059330	CV2405985	single nucleotide variant	NM_024989.4(PGAP1):c.2422G>A (p.Asp808Asn)	Intellectual disability, autosomal recessive 42 [RCV003134811]	uncertain significance	2	196843991	196843991	Human	1	name
329374063	CV2434685	single nucleotide variant	NM_024989.4(PGAP1):c.2407C>T (p.Arg803Cys)	Inborn genetic diseases [RCV003173310]\|Intellectual disability, autosomal recessive 42 [RCV005101208]	uncertain significance	2	196844006	196844006	Human	2	name
329355398	CV2445411	single nucleotide variant	NM_024989.4(PGAP1):c.1793T>C (p.Leu598Pro)	Inborn genetic diseases [RCV003202832]	uncertain significance	2	196865055	196865055	Human	1	name
329352335	CV2452883	single nucleotide variant	NM_024989.4(PGAP1):c.1264A>G (p.Thr422Ala)	Inborn genetic diseases [RCV003200441]	uncertain significance	2	196885432	196885432	Human	1	name
329363706	CV2471540	single nucleotide variant	NM_024989.4(PGAP1):c.1950G>C (p.Leu650Phe)	Inborn genetic diseases [RCV003206391]	uncertain significance	2	196847949	196847949	Human	1	name
401744934	CV2698430	single nucleotide variant	NM_024989.4(PGAP1):c.2039C>G (p.Pro680Arg)	Inborn genetic diseases [RCV003275395]	uncertain significance	2	196847114	196847114	Human	1	name
401739857	CV2709699	single nucleotide variant	NM_024989.4(PGAP1):c.1339C>T (p.Arg447Cys)	Inborn genetic diseases [RCV003292206]	uncertain significance	2	196880087	196880087	Human	1	name
401741725	CV2710141	single nucleotide variant	NM_024989.4(PGAP1):c.2443A>G (p.Met815Val)	Inborn genetic diseases [RCV003292665]	uncertain significance	2	196843970	196843970	Human	1	name
401774267	CV2727787	single nucleotide variant	NM_024989.4(PGAP1):c.2005G>A (p.Ala669Thr)	Inborn genetic diseases [RCV003305234]	uncertain significance	2	196847148	196847148	Human	1	name
401828778	CV2743113	single nucleotide variant	NM_024989.4(PGAP1):c.2051T>A (p.Leu684Ter)	not provided [RCV003325822]	likely pathogenic	2	196847102	196847102	Human		name
401855674	CV2753092	single nucleotide variant	NM_024989.4(PGAP1):c.2743C>T (p.Leu915Phe)	Intellectual disability, autosomal recessive 42 [RCV003338148]	uncertain significance	2	196841260	196841260	Human	1	name
401872949	CV2761311	single nucleotide variant	NM_024989.4(PGAP1):c.1340G>A (p.Arg447His)	Inborn genetic diseases [RCV003346933]	likely benign	2	196880086	196880086	Human	1	name
401915208	CV2830997	single nucleotide variant	NM_024989.4(PGAP1):c.2591C>T (p.Ala864Val)	Inborn genetic diseases [RCV004654219]\|not provided [RCV003442738]	uncertain significance	2	196842760	196842760	Human	1	name
401940397	CV2839249	single nucleotide variant	NM_024989.4(PGAP1):c.2393C>G (p.Ser798Ter)	Intellectual disability, autosomal recessive 42 [RCV003448808]	likely pathogenic	2	196844020	196844020	Human	1	name
405173302	CV2853442	single nucleotide variant	NM_024989.4(PGAP1):c.2209A>G (p.Ile737Val)	not provided [RCV003542505]	uncertain significance	2	196845959	196845959	Human		name
405148678	CV2864823	single nucleotide variant	NM_024989.4(PGAP1):c.2385A>C (p.Lys795Asn)	Intellectual disability, autosomal recessive 42 [RCV003585452]	uncertain significance	2	196844028	196844028	Human	1	name
405746722	CV3368603	single nucleotide variant	NM_024989.4(PGAP1):c.1087A>G (p.Asn363Asp)	Inborn genetic diseases [RCV004498501]\|not provided [RCV004790677]	uncertain significance	2	196892348	196892348	Human	1	name
405746730	CV3368604	single nucleotide variant	NM_024989.4(PGAP1):c.1111A>C (p.Thr371Pro)	Inborn genetic diseases [RCV004498502]	uncertain significance	2	196890890	196890890	Human	1	name
405746736	CV3368605	single nucleotide variant	NM_024989.4(PGAP1):c.1816A>G (p.Ile606Val)	Inborn genetic diseases [RCV004498503]	uncertain significance	2	196865032	196865032	Human	1	name
407464246	CV3466863	single nucleotide variant	NM_024989.4(PGAP1):c.2530T>A (p.Tyr844Asn)	Inborn genetic diseases [RCV004659902]	uncertain significance	2	196842821	196842821	Human	1	name
407528937	CV3466865	single nucleotide variant	NM_024989.4(PGAP1):c.1225C>A (p.Gln409Lys)	Inborn genetic diseases [RCV004655786]	uncertain significance	2	196885471	196885471	Human	1	name
407528940	CV3466867	single nucleotide variant	NM_024989.4(PGAP1):c.1061T>C (p.Val354Ala)	Inborn genetic diseases [RCV004655788]	uncertain significance	2	196892374	196892374	Human	1	name
408387186	CV3518738	single nucleotide variant	NM_024989.4(PGAP1):c.2582C>T (p.Pro861Leu)	not provided [RCV004761057]	uncertain significance	2	196842769	196842769	Human		name
596922846	CV3530128	single nucleotide variant	NM_024989.4(PGAP1):c.1526T>G (p.Val509Gly)	not provided [RCV004776727]	uncertain significance	2	196873554	196873554	Human		name
596923110	CV3537560	single nucleotide variant	NM_024989.4(PGAP1):c.1610C>A (p.Thr537Asn)	not provided [RCV004787530]	uncertain significance	2	196872969	196872969	Human		name
597714089	CV3575884	single nucleotide variant	NM_024989.4(PGAP1):c.1487T>C (p.Leu496Pro)	Inborn genetic diseases [RCV004959504]	uncertain significance	2	196873698	196873698	Human	1	name
597714082	CV3575885	single nucleotide variant	NM_024989.4(PGAP1):c.1844A>C (p.Tyr615Ser)	Inborn genetic diseases [RCV004959505]	uncertain significance	2	196865004	196865004	Human	1	name
597714061	CV3575889	single nucleotide variant	NM_024989.4(PGAP1):c.1372T>C (p.Phe458Leu)	Inborn genetic diseases [RCV004959508]	uncertain significance	2	196875800	196875800	Human	1	name
12743086	CV361509	single nucleotide variant	NM_024989.4(PGAP1):c.1220G>A (p.Cys407Tyr)	not provided [RCV000415991]	uncertain significance	2	196885834	196885834	Human		name
597939766	CV3788623	single nucleotide variant	NM_024989.4(PGAP1):c.1927G>A (p.Val643Ile)	Intellectual disability, autosomal recessive 42 [RCV005133298]	uncertain significance	2	196847972	196847972	Human	1	name
597901112	CV3835407	single nucleotide variant	NM_024989.4(PGAP1):c.2387A>G (p.Asp796Gly)	Intellectual disability, autosomal recessive 42 [RCV005181130]	uncertain significance	2	196844026	196844026	Human	1	name
598126811	CV3882269	single nucleotide variant	NM_024989.4(PGAP1):c.1604C>A (p.Ser535Ter)	not provided [RCV005233820]	pathogenic	2	196872975	196872975	Human		name
598262285	CV3999776	single nucleotide variant	NM_024989.4(PGAP1):c.2258T>G (p.Leu753Arg)	Inborn genetic diseases [RCV005387058]	uncertain significance	2	196845910	196845910	Human	1	name
598262289	CV3999777	single nucleotide variant	NM_024989.4(PGAP1):c.1519A>G (p.Ile507Val)	Inborn genetic diseases [RCV005387059]	uncertain significance	2	196873561	196873561	Human	1	name
598262299	CV3999781	single nucleotide variant	NM_024989.4(PGAP1):c.2180T>C (p.Met727Thr)	Inborn genetic diseases [RCV005387062]	uncertain significance	2	196845988	196845988	Human	1	name
598262302	CV3999782	single nucleotide variant	NM_024989.4(PGAP1):c.1717T>C (p.Cys573Arg)	Inborn genetic diseases [RCV005387063]	uncertain significance	2	196872452	196872452	Human	1	name
13214933	CV427970	single nucleotide variant	NM_024989.4(PGAP1):c.2408G>A (p.Arg803His)	Intellectual disability, autosomal recessive 42 [RCV002527280]\|not specified [RCV000501790]	uncertain significance	2	196844005	196844005	Human	1	name
13215045	CV427971	single nucleotide variant	NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter)	Intellectual disability, autosomal recessive 42 [RCV000502026]	likely pathogenic	2	196845964	196845964	Human	1	name
13212998	CV427973	single nucleotide variant	NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)	Hereditary spastic paraplegia [RCV001848872]\|Intellectual disability, autosomal recessive 42 [RCV000986967]\|not provided [RCV000514378]\|not specified [RCV000499483]	benign\|likely benign	2	196870955	196870955	Human	2	name
13214818	CV427974	single nucleotide variant	NM_024989.4(PGAP1):c.1691T>C (p.Leu564Ser)	Intellectual disability, autosomal recessive 42 [RCV000877763]\|not specified [RCV000501742]	likely benign\|uncertain significance	2	196872478	196872478	Human	1	name
13213631	CV427976	single nucleotide variant	NM_024989.4(PGAP1):c.1447G>C (p.Val483Leu)	Intellectual disability, autosomal recessive 42 [RCV002524267]\|not specified [RCV000500103]	uncertain significance	2	196873738	196873738	Human	1	name
13496445	CV450349	single nucleotide variant	NM_024989.4(PGAP1):c.1876T>C (p.Tyr626His)	Hereditary spastic paraplegia [RCV001848971]\|Intellectual disability, autosomal recessive 42 [RCV000560352]	likely benign\|uncertain significance	2	196848023	196848023	Human	2	name
13491293	CV450371	single nucleotide variant	NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val)	Intellectual disability, autosomal recessive 42 [RCV000534110]\|Intellectual disability, autosomal recessive 58 [RCV003483668]	uncertain significance\|not provided	2	196873021	196873021	Human	2	name
13509271	CV481636	single nucleotide variant	NM_024989.4(PGAP1):c.1245G>A (p.Trp415Ter)	not provided [RCV000579239]	likely pathogenic	2	196885451	196885451	Human		name
13624405	CV517481	single nucleotide variant	NM_024989.4(PGAP1):c.2643G>C (p.Lys881Asn)	Intellectual disability, autosomal recessive 42 [RCV000652177]	uncertain significance	2	196841360	196841360	Human	1	name
13624403	CV517599	single nucleotide variant	NM_024989.4(PGAP1):c.1721G>A (p.Arg574Gln)	Inborn genetic diseases [RCV002530546]\|Intellectual disability, autosomal recessive 42 [RCV000652179]\|not specified [RCV005407845]	likely benign\|uncertain significance	2	196872448	196872448	Human	2	name
13624404	CV517766	single nucleotide variant	NM_024989.4(PGAP1):c.1475A>G (p.Asn492Ser)	Intellectual disability, autosomal recessive 42 [RCV000652178]	uncertain significance	2	196873710	196873710	Human	1	name
13813737	CV557804	single nucleotide variant	NM_024989.4(PGAP1):c.2690T>C (p.Phe897Ser)	Intellectual disability, autosomal recessive 42 [RCV000704589]	uncertain significance	2	196841313	196841313	Human	1	name
14707719	CV629252	single nucleotide variant	NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser)	Inborn genetic diseases [RCV002537112]\|Intellectual disability, autosomal recessive 42 [RCV000799682]\|not provided [RCV003324795]\|not specified [RCV001816857]	conflicting interpretations of pathogenicity\|uncertain significance	2	196844038	196844038	Human	2	name
14708172	CV629253	single nucleotide variant	NM_024989.4(PGAP1):c.2276A>G (p.Tyr759Cys)	Intellectual disability, autosomal recessive 42 [RCV000817132]	uncertain significance	2	196845892	196845892	Human	1	name
14707589	CV629254	single nucleotide variant	NM_024989.4(PGAP1):c.1274A>G (p.Tyr425Cys)	Intellectual disability, autosomal recessive 42 [RCV000794833]	uncertain significance	2	196880152	196880152	Human	1	name
14978482	CV677412	single nucleotide variant	NM_024989.4(PGAP1):c.1069T>C (p.Trp357Arg)	Intellectual disability, autosomal recessive 42 [RCV000850581]	uncertain significance	2	196892366	196892366	Human	1	name
15148100	CV690995	single nucleotide variant	NM_024989.4(PGAP1):c.2647A>G (p.Thr883Ala)	Hereditary spastic paraplegia [RCV001847106]\|Intellectual disability, autosomal recessive 42 [RCV000878895]	likely benign	2	196841356	196841356	Human	2	name
15127299	CV690998	single nucleotide variant	NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)	Intellectual disability, autosomal recessive 42 [RCV000986965]\|not provided [RCV005051839]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	196844574	196844574	Human	1	name
21070992	CV790145	single nucleotide variant	NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)	Intellectual disability, autosomal recessive 42 [RCV000986966]	pathogenic\|likely pathogenic	2	196845894	196845894	Human	1	name
21070994	CV790146	single nucleotide variant	NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter)	Intellectual disability, autosomal recessive 42 [RCV000986968]	likely pathogenic	2	196892369	196892369	Human	1	name
21067967	CV795108	single nucleotide variant	NM_024989.4(PGAP1):c.2197C>T (p.Pro733Ser)	Intellectual disability, autosomal recessive 42 [RCV001858859]\|not provided [RCV000997637]	uncertain significance	2	196845971	196845971	Human	1	name
25317400	CV805281	single nucleotide variant	NM_024989.4(PGAP1):c.1969G>T (p.Glu657Ter)	not provided [RCV001008009]	likely pathogenic	2	196847184	196847184	Human		name
41407542	CV980223	single nucleotide variant	NM_024989.4(PGAP1):c.1155T>G (p.Tyr385Ter)	not provided [RCV001280736]	likely pathogenic	2	196890846	196890846	Human		name
126759259	CV988278	single nucleotide variant	NM_024989.4(PGAP1):c.2642A>G (p.Lys881Arg)	Intellectual disability, autosomal recessive 42 [RCV001308964]	uncertain significance	2	196841361	196841361	Human	1	name
126753132	CV988279	single nucleotide variant	NM_024989.4(PGAP1):c.1447G>A (p.Val483Met)	Intellectual disability, autosomal recessive 42 [RCV001297849]	uncertain significance	2	196873738	196873738	Human	1	name
8658661	CV136319	microsatellite	NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del)	Intellectual disability, autosomal recessive 42 [RCV000118980]	pathogenic\|likely pathogenic	2	196912940	196912942	Human		name
11040433	CV224700	deletion	NM_024989.4(PGAP1):c.274_276del (p.Pro92del)	Cerebral visual impairment and intellectual disability [RCV000210383]\|Intellectual disability, autosomal recessive 42 [RCV000208579]	pathogenic	2	196920022	196920024	Human	2	name
11040436	CV224701	deletion	NM_024989.4(PGAP1):c.921_925del (p.Lys308fs)	Cerebral visual impairment and intellectual disability [RCV000210406]\|Intellectual disability, autosomal recessive 42 [RCV000208582]	pathogenic	2	196897133	196897137	Human	2	name
152154213	CV1667857	insertion	NM_024989.4(PGAP1):c.1552+133_1552+134insAGAA	not provided [RCV002221749]	likely benign	2	196873394	196873395	Human		name
329848294	CV2667913	microsatellite	NM_024989.4(PGAP1):c.1318GTT[1] (p.Val441del)	not provided [RCV003229480]	likely pathogenic	2	196880103	196880105	Human		name
152034957	CV1670066	microsatellite	NM_024989.4(PGAP1):c.1162_1163del (p.Ser388fs)	not provided [RCV002223600]	likely pathogenic	2	196890838	196890839	Human		name
405854708	CV3394815	deletion	NM_024989.4(PGAP1):c.1546_1549del (p.Val516fs)	Intellectual disability, autosomal recessive 42 [RCV004551155]	pathogenic	2	196873531	196873534	Human	1	name
407451351	CV3495291	deletion	NM_024989.4(PGAP1):c.2607_2610del (p.Tyr870fs)	Intellectual disability, autosomal recessive 42 [RCV004689566]	pathogenic	2	196842741	196842744	Human		name
13469512	CV450176	microsatellite	NM_024989.4(PGAP1):c.1394_1397del (p.Ile465fs)	Intellectual disability, autosomal recessive 42 [RCV000545388]\|not provided [RCV001571811]	pathogenic	2	196875775	196875778	Human		name
38479744	CV922502	duplication	NM_024989.4(PGAP1):c.2607_2610dup (p.Thr871fs)	Intellectual disability, autosomal recessive 42 [RCV001217222]	uncertain significance	2	196842740	196842741	Human	1	name
13520653	CV495391	insertion	NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs)	Inborn genetic diseases [RCV003160066]\|Intellectual disability, autosomal recessive 42 [RCV000850580]\|not provided [RCV000598809]	pathogenic\|likely pathogenic	2	196844055	196844056	Human	2	name
329356295	CV2442574	deletion	NM_024989.4(PGAP1):c.2199del (p.Phe734_Leu735insTer)	Inborn genetic diseases [RCV003203206]	pathogenic	2	196845969	196845969	Human	1	name

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