Cln8 Variant Search Result - Rat Genome Database

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563 records found for search term Cln8

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8557002	CV17844	deletion	CLN8, 1-BP DEL, 88G	Ceroid lipofuscinosis neuronal 8 [RCV000002939]	pathogenic				Human		name , alternate_id
8557004	CV17846	deletion	CLN8, 1-BP DEL, 66G	Ceroid lipofuscinosis neuronal 8 [RCV000002941]	pathogenic				Human		name , alternate_id
8557005	CV17847	deletion	CLN8, 3-BP DEL, 180GAA	Ceroid lipofuscinosis neuronal 8 [RCV000002942]	pathogenic				Human		name , alternate_id
10397389	CV202197	single nucleotide variant	NM_018941.4(CLN8):c.-1A>T	not provided [RCV001704978]	likely benign	8	1771054	1771054	Human		name
150489780	CV1208504	single nucleotide variant	NM_018941.4(CLN8):c.*25G>A	not provided [RCV001592365]	likely benign	8	1780592	1780592	Human		name
10395802	CV202196	single nucleotide variant	NM_018941.4(CLN8):c.-46C>T	not specified [RCV000187120]	benign	8	1771009	1771009	Human		name
12838700	CV370204	single nucleotide variant	NM_018941.4(CLN8):c.*14G>T	not specified [RCV000427431]	likely benign	8	1780581	1780581	Human		name
150469784	CV1243213	single nucleotide variant	NM_018941.4(CLN8):c.-108G>A	not provided [RCV001650734]	benign	8	1770947	1770947	Human		name
150496943	CV1283455	single nucleotide variant	NM_018941.4(CLN8):c.-129G>T	not provided [RCV001717770]	benign	8	1763880	1763880	Human		name
8690560	CV140511	single nucleotide variant	NM_018941.4(CLN8):c.-126C>T	not provided [RCV004712091]\|not specified [RCV000124352]	benign	8	1763883	1763883	Human		name
10397388	CV202195	single nucleotide variant	NM_018941.4(CLN8):c.-122T>G	not specified [RCV000187119]	likely benign	8	1770933	1770933	Human		name
12838205	CV369875	single nucleotide variant	NM_018941.4(CLN8):c.-113G>T	not specified [RCV000426535]	likely benign	8	1770942	1770942	Human		name
12841069	CV371734	single nucleotide variant	NM_018941.4(CLN8):c.-120G>A	not specified [RCV000431920]	likely benign	8	1770935	1770935	Human		name
13534747	CV502330	single nucleotide variant	NM_018941.4(CLN8):c.-116A>T	not specified [RCV000607425]	likely benign	8	1770939	1770939	Human		name
13530733	CV502429	single nucleotide variant	NM_018941.4(CLN8):c.-121T>A	not specified [RCV000606233]	likely benign	8	1770934	1770934	Human		name
127240955	CV1075241	single nucleotide variant	NM_018941.4(CLN8):c.543+7G>A	Neuronal ceroid lipofuscinosis [RCV001415655]	likely benign	8	1771604	1771604	Human	1	name
127308488	CV1139348	single nucleotide variant	NM_018941.4(CLN8):c.543+9A>G	Neuronal ceroid lipofuscinosis [RCV001480629]	likely benign	8	1771606	1771606	Human	1	name
151883169	CV1431970	single nucleotide variant	NM_018941.4(CLN8):c.543+1G>A	Neuronal ceroid lipofuscinosis [RCV001999996]	pathogenic	8	1771598	1771598	Human	1	name
152026835	CV1540369	single nucleotide variant	NM_018941.4(CLN8):c.543+9A>C	Neuronal ceroid lipofuscinosis [RCV002104690]	likely benign	8	1771606	1771606	Human	1	name
152129741	CV1584350	single nucleotide variant	NM_018941.4(CLN8):c.544-6A>C	Neuronal ceroid lipofuscinosis [RCV002082697]	likely benign	8	1780244	1780244	Human	1	name
155803946	CV1866617	single nucleotide variant	NM_018941.4(CLN8):c.544-1G>T	Neuronal ceroid lipofuscinosis 8 [RCV002488681]	likely pathogenic	8	1780249	1780249	Human	1	name , alternate_id
156089926	CV1919693	single nucleotide variant	NM_018941.4(CLN8):c.543+5G>C	Neuronal ceroid lipofuscinosis [RCV002591875]	uncertain significance	8	1771602	1771602	Human	1	name
156258117	CV2264929	single nucleotide variant	NM_018941.4(CLN8):c.544-6A>T	Inborn genetic diseases [RCV002831535]\|Neuronal ceroid lipofuscinosis [RCV003777829]	likely benign\|uncertain significance	8	1780244	1780244	Human	2	name
243058961	CV2407497	single nucleotide variant	NM_018941.4(CLN8):c.544-3C>T	not provided [RCV003145047]	uncertain significance	8	1780247	1780247	Human		name
405078404	CV2891841	single nucleotide variant	NM_018941.4(CLN8):c.544-8C>A	Neuronal ceroid lipofuscinosis [RCV003534263]	likely benign	8	1780242	1780242	Human	1	name
405003575	CV2983874	single nucleotide variant	NM_018941.4(CLN8):c.544-2A>C	Neuronal ceroid lipofuscinosis [RCV003648327]	uncertain significance	8	1780248	1780248	Human	1	name
405254151	CV3175004	single nucleotide variant	NM_018941.4(CLN8):c.544-5T>C	Neuronal ceroid lipofuscinosis [RCV003871456]	likely benign	8	1780245	1780245	Human	1	name
12739092	CV357631	single nucleotide variant	NM_018941.4(CLN8):c.543+1G>T	Neuronal ceroid lipofuscinosis 8 [RCV000410670]\|Neuronal ceroid lipofuscinosis [RCV001850955]	likely pathogenic	8	1771598	1771598	Human	2	name , alternate_id
13792115	CV544702	single nucleotide variant	NM_018941.4(CLN8):c.544-2A>G	Neuronal ceroid lipofuscinosis 8 [RCV000668307]	likely pathogenic	8	1780248	1780248	Human	1	name , alternate_id
8690557	CV140508	single nucleotide variant	NM_018941.4(CLN8):c.-123-4T>C	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV002492455]\|not provided [RCV001701606]\|not specified [RCV000124348]	benign\|likely benign	8	1770928	1770928	Human	1	name , alternate_id
152065759	CV1556824	single nucleotide variant	NM_018941.4(CLN8):c.543+17G>T	Neuronal ceroid lipofuscinosis [RCV002191145]	likely benign	8	1771614	1771614	Human	1	name
156189917	CV2066335	single nucleotide variant	NM_018941.4(CLN8):c.543+14T>G	Neuronal ceroid lipofuscinosis [RCV002828577]	likely benign	8	1771611	1771611	Human	1	name
405058555	CV2909788	single nucleotide variant	NM_018941.4(CLN8):c.543+13A>C	Neuronal ceroid lipofuscinosis [RCV003531815]	likely benign	8	1771610	1771610	Human	1	name
405062747	CV2932731	single nucleotide variant	NM_018941.4(CLN8):c.543+19A>C	Neuronal ceroid lipofuscinosis [RCV003532491]	likely benign	8	1771616	1771616	Human	1	name
405006163	CV3021468	single nucleotide variant	NM_018941.4(CLN8):c.543+12C>G	Neuronal ceroid lipofuscinosis [RCV003648563]	likely benign	8	1771609	1771609	Human	1	name
405011647	CV3077430	single nucleotide variant	NM_018941.4(CLN8):c.544-15C>T	Neuronal ceroid lipofuscinosis [RCV003649124]	likely benign	8	1780235	1780235	Human	1	name
405011556	CV3080316	single nucleotide variant	NM_018941.4(CLN8):c.544-19T>G	Neuronal ceroid lipofuscinosis [RCV003649116]	likely benign	8	1780231	1780231	Human	1	name
13531778	CV502428	single nucleotide variant	NM_018941.4(CLN8):c.-124+7G>A	not specified [RCV000606587]	likely benign	8	1763892	1763892	Human		name
13782635	CV544744	single nucleotide variant	NM_018941.4(CLN8):c.-123-1G>C	Neuronal ceroid lipofuscinosis 8 [RCV000669108]	uncertain significance	8	1770931	1770931	Human	1	name , alternate_id
150409339	CV1175157	single nucleotide variant	NM_018941.4(CLN8):c.544-227A>G	Neuronal ceroid lipofuscinosis 8 [RCV001543989]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV001543990]\|not provided [RCV001713006]	benign	8	1780023	1780023	Human	2	name , alternate_id
14738931	CV662767	single nucleotide variant	NM_018941.4(CLN8):c.544-124T>C	Neuronal ceroid lipofuscinosis 8 [RCV001543991]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV001543992]\|not provided [RCV000839632]	benign	8	1780126	1780126	Human	2	name , alternate_id
150331294	CV1171830	single nucleotide variant	NM_018941.4(CLN8):c.-123-127C>T	not provided [RCV001538572]	benign	8	1770805	1770805	Human		name
150494294	CV1238839	single nucleotide variant	NM_018941.4(CLN8):c.-124+113G>A	not provided [RCV001655383]	benign	8	1763998	1763998	Human		name
150460315	CV1268478	single nucleotide variant	NM_018941.4(CLN8):c.-123-225G>C	not provided [RCV001693475]	benign	8	1770707	1770707	Human		name
407429627	CV3414014	single nucleotide variant	NM_018941.4(CLN8):c.543+1327G>A	not specified [RCV004595428]	benign	8	1772924	1772924	Human	7	name
14713717	CV663287	single nucleotide variant	NM_018941.4(CLN8):c.-123-328C>G	not provided [RCV000828799]	likely benign	8	1770604	1770604	Human		name
127293715	CV1118457	single nucleotide variant	NM_018941.4(CLN8):c.9T>C (p.Pro3=)	Neuronal ceroid lipofuscinosis [RCV001459283]	likely benign	8	1771063	1771063	Human	1	name
597735701	CV3722622	deletion	NM_018941.4(CLN8):c.1del (p.Met1*)	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV005051598]	pathogenic	8	1771054	1771054	Human	1	name , alternate_id
127326345	CV1118458	single nucleotide variant	NM_018941.4(CLN8):c.18T>C (p.Asp6=)	Neuronal ceroid lipofuscinosis [RCV001468719]	likely benign	8	1771072	1771072	Human	1	name
127310820	CV1139340	single nucleotide variant	NM_018941.4(CLN8):c.12G>A (p.Ala4=)	Neuronal ceroid lipofuscinosis [RCV001481242]	likely benign	8	1771066	1771066	Human	1	name
127337764	CV1139341	single nucleotide variant	NM_018941.4(CLN8):c.21G>C (p.Gly7=)	Neuronal ceroid lipofuscinosis [RCV001493048]	likely benign	8	1771075	1771075	Human	1	name
152139702	CV1549727	single nucleotide variant	NM_018941.4(CLN8):c.12G>T (p.Ala4=)	Neuronal ceroid lipofuscinosis [RCV002156602]	likely benign	8	1771066	1771066	Human	1	name
152153132	CV1623351	single nucleotide variant	NM_018941.4(CLN8):c.27A>C (p.Thr9=)	Neuronal ceroid lipofuscinosis [RCV002221122]	likely benign	8	1771081	1771081	Human	1	name
405059318	CV2917921	single nucleotide variant	NM_018941.4(CLN8):c.12G>C (p.Ala4=)	Neuronal ceroid lipofuscinosis [RCV003531878]	likely benign	8	1771066	1771066	Human	1	name
12847349	CV370191	single nucleotide variant	NM_018941.4(CLN8):c.15C>T (p.Ser5=)	Neuronal ceroid lipofuscinosis [RCV000474324]\|not provided [RCV001705559]	likely benign	8	1771069	1771069	Human	1	name
12901482	CV407349	deletion	NM_018941.4(CLN8):c.-139_-124+21del	not provided [RCV000484784]	uncertain significance	8	1763858	1763894	Human		name
12899326	CV407350	duplication	NM_018941.4(CLN8):c.-125_-124+19dup	Neuronal ceroid lipofuscinosis [RCV000988027]\|not specified [RCV000479960]	uncertain significance	8	1763878	1763879	Human	1	name
13792224	CV544689	deletion	NM_018941.4(CLN8):c.-131_-124+13del	Neuronal ceroid lipofuscinosis 8 [RCV000668442]	uncertain significance	8	1763876	1763896	Human	1	name , alternate_id
15120769	CV692475	single nucleotide variant	NM_018941.4(CLN8):c.21G>A (p.Gly7=)	Neuronal ceroid lipofuscinosis 8 [RCV001825764]\|Neuronal ceroid lipofuscinosis [RCV000874121]	likely benign	8	1771075	1771075	Human	2	name , alternate_id
126767749	CV992712	single nucleotide variant	NM_018941.4(CLN8):c.27A>G (p.Thr9=)	Neuronal ceroid lipofuscinosis [RCV001302407]	likely benign\|uncertain significance	8	1771081	1771081	Human	1	name
127232409	CV1075235	single nucleotide variant	NM_018941.4(CLN8):c.72C>T (p.Arg24=)	Neuronal ceroid lipofuscinosis [RCV001413427]	likely benign	8	1771126	1771126	Human	1	name
127277053	CV1096910	single nucleotide variant	NM_018941.4(CLN8):c.87C>T (p.Val29=)	Neuronal ceroid lipofuscinosis [RCV001444169]	likely benign	8	1771141	1771141	Human	1	name
127296845	CV1118459	single nucleotide variant	NM_018941.4(CLN8):c.90T>C (p.Ala30=)	Neuronal ceroid lipofuscinosis [RCV001460117]	likely benign	8	1771144	1771144	Human	1	name
151759773	CV1503911	single nucleotide variant	NM_018941.4(CLN8):c.66G>C (p.Gly22=)	Neuronal ceroid lipofuscinosis [RCV002007722]	likely benign	8	1771120	1771120	Human	1	name
152174886	CV1536133	single nucleotide variant	NM_018941.4(CLN8):c.57A>G (p.Ala19=)	Neuronal ceroid lipofuscinosis [RCV002163303]	likely benign	8	1771111	1771111	Human	1	name
152041804	CV1537808	single nucleotide variant	NM_018941.4(CLN8):c.48G>C (p.Leu16=)	Neuronal ceroid lipofuscinosis [RCV002165786]	likely benign	8	1771102	1771102	Human	1	name
152094046	CV1561706	single nucleotide variant	NM_018941.4(CLN8):c.33G>A (p.Glu11=)	Neuronal ceroid lipofuscinosis [RCV002194676]	likely benign	8	1771087	1771087	Human	1	name
152124794	CV1630031	single nucleotide variant	NM_018941.4(CLN8):c.78G>A (p.Thr26=)	Neuronal ceroid lipofuscinosis [RCV002154722]	likely benign	8	1771132	1771132	Human	1	name
156131846	CV2169200	single nucleotide variant	NM_018941.4(CLN8):c.5A>G (p.Asn2Ser)	Neuronal ceroid lipofuscinosis [RCV003022207]	uncertain significance	8	1771059	1771059	Human	1	name
405075854	CV2873978	duplication	NM_018941.4(CLN8):c.543+12_543+20dup	Neuronal ceroid lipofuscinosis [RCV003534036]	likely benign	8	1771607	1771608	Human	1	name
405057848	CV2908525	single nucleotide variant	NM_018941.4(CLN8):c.1A>T (p.Met1Leu)	Neuronal ceroid lipofuscinosis [RCV003531753]	pathogenic	8	1771055	1771055	Human	1	name
405003610	CV2990465	single nucleotide variant	NM_018941.4(CLN8):c.93C>T (p.Gly31=)	Neuronal ceroid lipofuscinosis [RCV003648330]	likely benign	8	1771147	1771147	Human	1	name
405235960	CV3168947	single nucleotide variant	NM_018941.4(CLN8):c.39T>A (p.Ile13=)	Neuronal ceroid lipofuscinosis [RCV003866226]	likely benign	8	1771093	1771093	Human	1	name
402492973	CV3182651	single nucleotide variant	NM_018941.4(CLN8):c.90T>G (p.Ala30=)	Neuronal ceroid lipofuscinosis [RCV003877138]	likely benign	8	1771144	1771144	Human	1	name
13786134	CV480573	single nucleotide variant	NM_018941.4(CLN8):c.1A>G (p.Met1Val)	Neuronal ceroid lipofuscinosis 8 [RCV000677235]\|Neuronal ceroid lipofuscinosis [RCV001229215]\|not provided [RCV005409678]	pathogenic\|likely pathogenic	8	1771055	1771055	Human	2	name , alternate_id
13541416	CV501981	single nucleotide variant	NM_018941.4(CLN8):c.46C>T (p.Leu16=)	not specified [RCV000616127]	likely benign	8	1771100	1771100	Human		name
13784813	CV544720	single nucleotide variant	NM_018941.4(CLN8):c.2T>C (p.Met1Thr)	Neuronal ceroid lipofuscinosis 8 [RCV000671294]	likely pathogenic	8	1771056	1771056	Human	1	name , alternate_id
15144899	CV783063	single nucleotide variant	NM_018941.4(CLN8):c.75C>T (p.Ser25=)	Neuronal ceroid lipofuscinosis 8 [RCV001836055]\|Neuronal ceroid lipofuscinosis [RCV000983573]	likely benign	8	1771129	1771129	Human	2	name , alternate_id
38468368	CV955378	single nucleotide variant	NM_018941.4(CLN8):c.7C>T (p.Pro3Ser)	Neuronal ceroid lipofuscinosis [RCV001245081]	uncertain significance	8	1771061	1771061	Human	1	name
126914267	CV1045431	single nucleotide variant	NM_018941.4(CLN8):c.26C>T (p.Thr9Ile)	Neuronal ceroid lipofuscinosis [RCV001370410]	uncertain significance	8	1771080	1771080	Human	1	name
127283197	CV1075236	single nucleotide variant	NM_018941.4(CLN8):c.123C>T (p.Val41=)	Neuronal ceroid lipofuscinosis [RCV001411608]	likely benign	8	1771177	1771177	Human	1	name
127280233	CV1075237	single nucleotide variant	NM_018941.4(CLN8):c.180G>A (p.Glu60=)	Neuronal ceroid lipofuscinosis [RCV001409665]	likely benign	8	1771234	1771234	Human	1	name
127272191	CV1096911	single nucleotide variant	NM_018941.4(CLN8):c.135G>A (p.Leu45=)	Neuronal ceroid lipofuscinosis [RCV001442089]	likely benign	8	1771189	1771189	Human	1	name
127272197	CV1096912	single nucleotide variant	NM_018941.4(CLN8):c.222T>C (p.Gly74=)	Neuronal ceroid lipofuscinosis [RCV001442091]	likely benign	8	1771276	1771276	Human	1	name
127306694	CV1118460	single nucleotide variant	NM_018941.4(CLN8):c.213A>G (p.Ala71=)	Neuronal ceroid lipofuscinosis [RCV001462835]	likely benign	8	1771267	1771267	Human	1	name
127318350	CV1118461	single nucleotide variant	NM_018941.4(CLN8):c.228G>A (p.Gln76=)	Neuronal ceroid lipofuscinosis [RCV001466153]	likely benign	8	1771282	1771282	Human	1	name
127332253	CV1118462	single nucleotide variant	NM_018941.4(CLN8):c.246G>C (p.Leu82=)	Neuronal ceroid lipofuscinosis [RCV001472113]	likely benign	8	1771300	1771300	Human	1	name
127314293	CV1139342	single nucleotide variant	NM_018941.4(CLN8):c.159C>T (p.Tyr53=)	Neuronal ceroid lipofuscinosis [RCV001502452]	likely benign	8	1771213	1771213	Human	1	name
127313875	CV1139343	single nucleotide variant	NM_018941.4(CLN8):c.273G>T (p.Leu91=)	Neuronal ceroid lipofuscinosis [RCV001482092]	likely benign	8	1771327	1771327	Human	1	name
151855158	CV1353999	single nucleotide variant	NM_018941.4(CLN8):c.16G>A (p.Asp6Asn)	Neuronal ceroid lipofuscinosis [RCV001979434]	uncertain significance	8	1771070	1771070	Human	1	name
8690558	CV140509	single nucleotide variant	NM_018941.4(CLN8):c.246G>A (p.Leu82=)	Inborn genetic diseases [RCV002453448]\|Neuronal ceroid lipofuscinosis [RCV000632729]\|not provided [RCV005256566]\|not specified [RCV000124349]	benign\|likely benign	8	1771300	1771300	Human	2	name
151753188	CV1426975	single nucleotide variant	NM_018941.4(CLN8):c.15C>G (p.Ser5Arg)	Neuronal ceroid lipofuscinosis [RCV002007076]	uncertain significance	8	1771069	1771069	Human	1	name
151779966	CV1442661	single nucleotide variant	NM_018941.4(CLN8):c.23G>T (p.Gly8Val)	Neuronal ceroid lipofuscinosis [RCV002009644]	uncertain significance	8	1771077	1771077	Human	1	name
151862412	CV1474244	single nucleotide variant	NM_018941.4(CLN8):c.18T>A (p.Asp6Glu)	Neuronal ceroid lipofuscinosis [RCV001884095]	uncertain significance	8	1771072	1771072	Human	1	name
151741950	CV1504342	single nucleotide variant	NM_018941.4(CLN8):c.201G>A (p.Ala67=)	Neuronal ceroid lipofuscinosis [RCV002022403]	likely benign\|uncertain significance	8	1771255	1771255	Human	1	name
152026267	CV1540731	single nucleotide variant	NM_018941.4(CLN8):c.114C>A (p.Val38=)	Neuronal ceroid lipofuscinosis [RCV002104498]	likely benign	8	1771168	1771168	Human	1	name
152144805	CV1543183	single nucleotide variant	NM_018941.4(CLN8):c.102C>T (p.Phe34=)	Neuronal ceroid lipofuscinosis [RCV002178557]	likely benign	8	1771156	1771156	Human	1	name
152102790	CV1560431	single nucleotide variant	NM_018941.4(CLN8):c.210T>C (p.Arg70=)	Neuronal ceroid lipofuscinosis [RCV002152012]	likely benign	8	1771264	1771264	Human	1	name
152102409	CV1571617	single nucleotide variant	NM_018941.4(CLN8):c.144C>A (p.Ser48=)	Neuronal ceroid lipofuscinosis [RCV002173274]	likely benign	8	1771198	1771198	Human	1	name
152055351	CV1582104	single nucleotide variant	NM_018941.4(CLN8):c.111C>A (p.Gly37=)	Neuronal ceroid lipofuscinosis [RCV002089639]	likely benign	8	1771165	1771165	Human	1	name
152088516	CV1626180	single nucleotide variant	NM_018941.4(CLN8):c.147G>A (p.Leu49=)	Neuronal ceroid lipofuscinosis [RCV002131751]	likely benign	8	1771201	1771201	Human	1	name
152103030	CV1656685	single nucleotide variant	NM_018941.4(CLN8):c.237C>T (p.Ala79=)	Neuronal ceroid lipofuscinosis [RCV002115596]	likely benign	8	1771291	1771291	Human	1	name
152173624	CV1662788	single nucleotide variant	NM_018941.4(CLN8):c.231C>T (p.Ser77=)	Neuronal ceroid lipofuscinosis [RCV002144172]	likely benign	8	1771285	1771285	Human	1	name
10048186	CV192509	single nucleotide variant	NM_018941.4(CLN8):c.11C>T (p.Ala4Val)	Inborn genetic diseases [RCV002314613]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV004799187]\|Neuronal ceroid lipofuscinosis [RCV000465790]\|not provided [RCV001704258]\|not specified [RCV000175911]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	1771065	1771065	Human	3	name , alternate_id
156397970	CV2009237	single nucleotide variant	NM_018941.4(CLN8):c.123C>G (p.Val41=)	Neuronal ceroid lipofuscinosis [RCV002725753]	likely benign	8	1771177	1771177	Human	1	name
10395811	CV202198	single nucleotide variant	NM_018941.4(CLN8):c.16G>C (p.Asp6His)	Neuronal ceroid lipofuscinosis 8 [RCV001827997]\|Neuronal ceroid lipofuscinosis [RCV002517853]\|not provided [RCV000187133]	uncertain significance	8	1771070	1771070	Human	2	name , alternate_id
10395812	CV202199	single nucleotide variant	NM_018941.4(CLN8):c.17A>G (p.Asp6Gly)	Inborn genetic diseases [RCV002513992]\|Neuronal ceroid lipofuscinosis 8 [RCV001835714]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV002492862]\|Neuronal ceroid lipofuscinosis [RCV001233219]\|not provided [RCV000187134]	uncertain significance	8	1771071	1771071	Human	4	name , alternate_id
156198488	CV2024447	single nucleotide variant	NM_018941.4(CLN8):c.174C>T (p.Ala58=)	Neuronal ceroid lipofuscinosis [RCV002711319]	likely benign	8	1771228	1771228	Human	1	name
156217618	CV2070738	single nucleotide variant	NM_018941.4(CLN8):c.18T>G (p.Asp6Glu)	Neuronal ceroid lipofuscinosis [RCV002829560]	uncertain significance	8	1771072	1771072	Human	1	name
155924749	CV2073865	single nucleotide variant	NM_018941.4(CLN8):c.20G>C (p.Gly7Ala)	Neuronal ceroid lipofuscinosis [RCV002838477]	uncertain significance	8	1771074	1771074	Human	1	name
156250595	CV2082573	single nucleotide variant	NM_018941.4(CLN8):c.216C>G (p.Val72=)	Neuronal ceroid lipofuscinosis [RCV002876926]	likely benign	8	1771270	1771270	Human	1	name
156227698	CV2093648	single nucleotide variant	NM_018941.4(CLN8):c.153C>G (p.Ala51=)	Neuronal ceroid lipofuscinosis [RCV002894432]	likely benign	8	1771207	1771207	Human	1	name
155936087	CV2114168	single nucleotide variant	NM_018941.4(CLN8):c.244C>T (p.Leu82=)	Neuronal ceroid lipofuscinosis [RCV002904145]	likely benign	8	1771298	1771298	Human	1	name
156027857	CV2139284	single nucleotide variant	NM_018941.4(CLN8):c.204C>T (p.Ala68=)	Neuronal ceroid lipofuscinosis [RCV002999006]	likely benign	8	1771258	1771258	Human	1	name
156354486	CV2154121	single nucleotide variant	NM_018941.4(CLN8):c.213A>C (p.Ala71=)	Neuronal ceroid lipofuscinosis [RCV003031128]	likely benign	8	1771267	1771267	Human	1	name
155995863	CV2156480	single nucleotide variant	NM_018941.4(CLN8):c.145C>T (p.Leu49=)	Neuronal ceroid lipofuscinosis [RCV002996784]	likely benign	8	1771199	1771199	Human	1	name
156252965	CV2185077	single nucleotide variant	NM_018941.4(CLN8):c.261G>A (p.Gly87=)	Neuronal ceroid lipofuscinosis [RCV003043858]	likely benign	8	1771315	1771315	Human	1	name
11349193	CV240334	single nucleotide variant	NM_018941.4(CLN8):c.126C>T (p.Cys42=)	Neuronal ceroid lipofuscinosis [RCV001413000]	likely benign	8	1771180	1771180	Human	1	name
11347862	CV240335	single nucleotide variant	NM_018941.4(CLN8):c.273G>A (p.Leu91=)	Neuronal ceroid lipofuscinosis [RCV001445218]	likely benign	8	1771327	1771327	Human	1	name
11550150	CV253088	single nucleotide variant	NM_018941.4(CLN8):c.207G>A (p.Thr69=)	Inborn genetic diseases [RCV002418085]\|Neuronal ceroid lipofuscinosis 8 [RCV001828146]\|Neuronal ceroid lipofuscinosis [RCV001082817]\|not provided [RCV000726178]\|not specified [RCV000251360]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	1771261	1771261	Human	3	name , alternate_id
329951972	CV2668718	deletion	NM_018941.4(CLN8):c.43del (p.Asp15fs)	Neuronal ceroid lipofuscinosis [RCV003230799]	likely pathogenic	8	1771097	1771097	Human	1	name
11643267	CV268009	single nucleotide variant	NM_018941.4(CLN8):c.256C>T (p.Leu86=)	Neuronal ceroid lipofuscinosis [RCV001086060]\|not provided [RCV000390779]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	1771310	1771310	Human	1	name
405054742	CV2883484	single nucleotide variant	NM_018941.4(CLN8):c.246G>T (p.Leu82=)	Neuronal ceroid lipofuscinosis [RCV003531480]	likely benign	8	1771300	1771300	Human	1	name
405009515	CV3039051	single nucleotide variant	NM_018941.4(CLN8):c.135G>C (p.Leu45=)	Neuronal ceroid lipofuscinosis [RCV003648692]	likely benign	8	1771189	1771189	Human	1	name
405194068	CV3167624	single nucleotide variant	NM_018941.4(CLN8):c.258G>A (p.Leu86=)	Neuronal ceroid lipofuscinosis [RCV003860030]	likely benign	8	1771312	1771312	Human	1	name
404982714	CV3184236	single nucleotide variant	NM_018941.4(CLN8):c.291T>C (p.Arg97=)	Neuronal ceroid lipofuscinosis [RCV003880728]	likely benign	8	1771345	1771345	Human	1	name
12739464	CV357629	deletion	NM_018941.4(CLN8):c.47del (p.Leu16fs)	Neuronal ceroid lipofuscinosis 8 [RCV000409684]	likely pathogenic	8	1771101	1771101	Human	1	name , alternate_id
12835533	CV369454	single nucleotide variant	NM_018941.4(CLN8):c.186C>T (p.Val62=)	Neuronal ceroid lipofuscinosis [RCV001489998]\|not specified [RCV000421844]	likely benign	8	1771240	1771240	Human	1	name
12842304	CV370200	single nucleotide variant	NM_018941.4(CLN8):c.297G>A (p.Gln99=)	Neuronal ceroid lipofuscinosis [RCV001479826]\|not specified [RCV000434155]	likely benign	8	1771351	1771351	Human	1	name
597914935	CV3851206	single nucleotide variant	NM_018941.4(CLN8):c.196C>T (p.Leu66=)	Neuronal ceroid lipofuscinosis [RCV005204174]	likely benign	8	1771250	1771250	Human	1	name
13538958	CV502431	single nucleotide variant	NM_018941.4(CLN8):c.270G>A (p.Val90=)	Neuronal ceroid lipofuscinosis [RCV001441665]\|not specified [RCV000612610]	likely benign	8	1771324	1771324	Human	1	name
13615419	CV523402	single nucleotide variant	NM_018941.4(CLN8):c.279C>T (p.Ala93=)	Neuronal ceroid lipofuscinosis [RCV001081645]\|not provided [RCV000831006]	likely benign	8	1771333	1771333	Human	1	name
13784929	CV544745	deletion	NM_018941.4(CLN8):c.50del (p.Asp17fs)	Neuronal ceroid lipofuscinosis 8 [RCV000671415]	likely pathogenic	8	1771104	1771104	Human	1	name , alternate_id
13828877	CV579373	single nucleotide variant	NM_018941.4(CLN8):c.111C>T (p.Gly37=)	Inborn genetic diseases [RCV002316132]\|Neuronal ceroid lipofuscinosis 8 [RCV001273350]\|Neuronal ceroid lipofuscinosis [RCV001499641]\|not provided [RCV000868297]	benign\|likely benign	8	1771165	1771165	Human	3	name , alternate_id
14743503	CV637011	single nucleotide variant	NM_018941.4(CLN8):c.19G>A (p.Gly7Arg)	Neuronal ceroid lipofuscinosis [RCV000823483]	uncertain significance	8	1771073	1771073	Human	1	name
15146547	CV687252	single nucleotide variant	NM_018941.4(CLN8):c.288G>A (p.Ala96=)	Neuronal ceroid lipofuscinosis 8 [RCV001279442]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV002495258]\|Neuronal ceroid lipofuscinosis [RCV000866287]	likely benign\|uncertain significance	8	1771342	1771342	Human	3	name , alternate_id
8617446	CV71357	deletion	NM_018941.4(CLN8):c.66del (p.Ile23fs)	Neuronal ceroid lipofuscinosis 8 [RCV000050131]	pathogenic\|likely pathogenic	8	1771116	1771116	Human	1	name , alternate_id
8617448	CV71359	deletion	NM_018941.4(CLN8):c.88del (p.Ala30fs)	Neuronal ceroid lipofuscinosis 8 [RCV000050133]	pathogenic\|likely pathogenic	8	1771142	1771142	Human	1	name , alternate_id
15147966	CV766704	single nucleotide variant	NM_018941.4(CLN8):c.114C>G (p.Val38=)	Neuronal ceroid lipofuscinosis [RCV000945028]	likely benign	8	1771168	1771168	Human	1	name
15186290	CV766705	single nucleotide variant	NM_018941.4(CLN8):c.234A>G (p.Thr78=)	Neuronal ceroid lipofuscinosis [RCV000931309]	likely benign	8	1771288	1771288	Human	1	name
38458619	CV925135	single nucleotide variant	NM_018941.4(CLN8):c.16G>T (p.Asp6Tyr)	Neuronal ceroid lipofuscinosis 8 [RCV001833938]\|Neuronal ceroid lipofuscinosis [RCV001223711]	uncertain significance	8	1771070	1771070	Human	2	name , alternate_id
126734349	CV1007943	single nucleotide variant	NM_018941.4(CLN8):c.35G>C (p.Ser12Thr)	Neuronal ceroid lipofuscinosis [RCV001313553]	uncertain significance	8	1771089	1771089	Human	1	name
127258913	CV1075238	single nucleotide variant	NM_018941.4(CLN8):c.372C>T (p.Ser124=)	Neuronal ceroid lipofuscinosis [RCV001419646]	likely benign	8	1771426	1771426	Human	1	name
127232710	CV1075239	single nucleotide variant	NM_018941.4(CLN8):c.408T>C (p.Val136=)	Neuronal ceroid lipofuscinosis [RCV001413583]	likely benign	8	1771462	1771462	Human	1	name
127230634	CV1075240	single nucleotide variant	NM_018941.4(CLN8):c.459C>A (p.Leu153=)	Neuronal ceroid lipofuscinosis [RCV001394783]	likely benign	8	1771513	1771513	Human	1	name
127237061	CV1075242	single nucleotide variant	NM_018941.4(CLN8):c.546G>T (p.Ala182=)	Neuronal ceroid lipofuscinosis [RCV001397029]	likely benign	8	1780252	1780252	Human	1	name
127244621	CV1075243	single nucleotide variant	NM_018941.4(CLN8):c.558G>A (p.Glu186=)	Neuronal ceroid lipofuscinosis [RCV001416368]	likely benign	8	1780264	1780264	Human	1	name
127241780	CV1075244	single nucleotide variant	NM_018941.4(CLN8):c.660C>T (p.Asp220=)	Neuronal ceroid lipofuscinosis [RCV001398068]	likely benign	8	1780366	1780366	Human	1	name
127258820	CV1075245	single nucleotide variant	NM_018941.4(CLN8):c.696A>G (p.Thr232=)	Neuronal ceroid lipofuscinosis 8 [RCV001826198]\|Neuronal ceroid lipofuscinosis [RCV001401764]	likely benign	8	1780402	1780402	Human	2	name , alternate_id
127231721	CV1075246	single nucleotide variant	NM_018941.4(CLN8):c.792C>T (p.Asn264=)	Neuronal ceroid lipofuscinosis [RCV001395439]	likely benign	8	1780498	1780498	Human	1	name
127231292	CV1075247	single nucleotide variant	NM_018941.4(CLN8):c.795C>T (p.Phe265=)	Neuronal ceroid lipofuscinosis 8 [RCV001826217]\|Neuronal ceroid lipofuscinosis [RCV001413013]	likely benign	8	1780501	1780501	Human	2	name , alternate_id
127279219	CV1096913	single nucleotide variant	NM_018941.4(CLN8):c.426C>T (p.Ala142=)	Neuronal ceroid lipofuscinosis [RCV001445596]	likely benign	8	1771480	1771480	Human	1	name
127283948	CV1096914	single nucleotide variant	NM_018941.4(CLN8):c.489G>T (p.Thr163=)	Neuronal ceroid lipofuscinosis [RCV001448882]	likely benign	8	1771543	1771543	Human	1	name
127245828	CV1096915	single nucleotide variant	NM_018941.4(CLN8):c.573G>A (p.Lys191=)	Neuronal ceroid lipofuscinosis [RCV001424409]	likely benign	8	1780279	1780279	Human	1	name
127274715	CV1096916	single nucleotide variant	NM_018941.4(CLN8):c.678G>C (p.Leu226=)	Neuronal ceroid lipofuscinosis [RCV001442953]	likely benign	8	1780384	1780384	Human	1	name
127273121	CV1096917	single nucleotide variant	NM_018941.4(CLN8):c.682C>T (p.Leu228=)	Neuronal ceroid lipofuscinosis [RCV001431551]	likely benign	8	1780388	1780388	Human	1	name
127253114	CV1096918	single nucleotide variant	NM_018941.4(CLN8):c.702C>T (p.Phe234=)	Neuronal ceroid lipofuscinosis [RCV001436949]	likely benign	8	1780408	1780408	Human	1	name
127259578	CV1096919	single nucleotide variant	NM_018941.4(CLN8):c.798A>C (p.Ala266=)	Neuronal ceroid lipofuscinosis [RCV001427629]	likely benign	8	1780504	1780504	Human	1	name
127295411	CV1118463	single nucleotide variant	NM_018941.4(CLN8):c.303C>T (p.Asn101=)	Neuronal ceroid lipofuscinosis [RCV001477091]	likely benign	8	1771357	1771357	Human	1	name
127336920	CV1118464	single nucleotide variant	NM_018941.4(CLN8):c.321C>T (p.Ile107=)	Neuronal ceroid lipofuscinosis [RCV001475297]	likely benign	8	1771375	1771375	Human	1	name
127335750	CV1118465	single nucleotide variant	NM_018941.4(CLN8):c.330A>G (p.Ala110=)	Neuronal ceroid lipofuscinosis [RCV001474469]	likely benign	8	1771384	1771384	Human	1	name
127293816	CV1118466	single nucleotide variant	NM_018941.4(CLN8):c.468C>G (p.Gly156=)	Neuronal ceroid lipofuscinosis [RCV001476668]	likely benign	8	1771522	1771522	Human	1	name
127326101	CV1118467	single nucleotide variant	NM_018941.4(CLN8):c.490T>C (p.Leu164=)	Neuronal ceroid lipofuscinosis [RCV001468669]	likely benign	8	1771544	1771544	Human	1	name
127292541	CV1118468	single nucleotide variant	NM_018941.4(CLN8):c.693G>A (p.Leu231=)	Neuronal ceroid lipofuscinosis [RCV001451780]	likely benign	8	1780399	1780399	Human	1	name
127294796	CV1118469	single nucleotide variant	NM_018941.4(CLN8):c.720G>A (p.Leu240=)	Neuronal ceroid lipofuscinosis [RCV001476924]	likely benign	8	1780426	1780426	Human	1	name
127318985	CV1118470	single nucleotide variant	NM_018941.4(CLN8):c.813G>A (p.Lys271=)	Neuronal ceroid lipofuscinosis [RCV001466419]	likely benign	8	1780519	1780519	Human	1	name
127304038	CV1139344	single nucleotide variant	NM_018941.4(CLN8):c.397T>C (p.Leu133=)	Neuronal ceroid lipofuscinosis [RCV001479381]	likely benign	8	1771451	1771451	Human	1	name
127320952	CV1139345	single nucleotide variant	NM_018941.4(CLN8):c.474T>C (p.Tyr158=)	Neuronal ceroid lipofuscinosis [RCV001484393]	likely benign	8	1771528	1771528	Human	1	name
127335543	CV1139346	single nucleotide variant	NM_018941.4(CLN8):c.486C>T (p.Thr162=)	Neuronal ceroid lipofuscinosis [RCV001491593]	likely benign	8	1771540	1771540	Human	1	name
127335067	CV1139347	single nucleotide variant	NM_018941.4(CLN8):c.510G>T (p.Thr170=)	Neuronal ceroid lipofuscinosis [RCV001491260]	likely benign	8	1771564	1771564	Human	1	name
127316299	CV1139349	single nucleotide variant	NM_018941.4(CLN8):c.738T>C (p.Asn246=)	Neuronal ceroid lipofuscinosis [RCV001502979]	likely benign	8	1780444	1780444	Human	1	name
127317849	CV1139350	single nucleotide variant	NM_018941.4(CLN8):c.744T>C (p.Tyr248=)	Neuronal ceroid lipofuscinosis [RCV001503504]	likely benign	8	1780450	1780450	Human	1	name
8657532	CV134238	single nucleotide variant	NM_018941.4(CLN8):c.562C>T (p.Leu188=)	Neuronal ceroid lipofuscinosis [RCV001482440]\|not specified [RCV000116762]	benign\|likely benign	8	1780268	1780268	Human	1	name
151840546	CV1345907	single nucleotide variant	NM_018941.4(CLN8):c.41T>C (p.Phe14Ser)	Neuronal ceroid lipofuscinosis [RCV001902783]	uncertain significance	8	1771095	1771095	Human	1	name
151829537	CV1348474	single nucleotide variant	NM_018941.4(CLN8):c.56C>T (p.Ala19Val)	Inborn genetic diseases [RCV004980786]\|Neuronal ceroid lipofuscinosis [RCV001870397]	uncertain significance	8	1771110	1771110	Human	2	name
151853766	CV1349351	single nucleotide variant	NM_018941.4(CLN8):c.53A>G (p.Tyr18Cys)	Neuronal ceroid lipofuscinosis [RCV001923137]	uncertain significance	8	1771107	1771107	Human	1	name
151798324	CV1373533	single nucleotide variant	NM_018941.4(CLN8):c.29C>G (p.Ser10Ter)	Neuronal ceroid lipofuscinosis [RCV001917477]	pathogenic	8	1771083	1771083	Human	1	name
151803640	CV1375535	single nucleotide variant	NM_018941.4(CLN8):c.59C>T (p.Ser20Phe)	Neuronal ceroid lipofuscinosis [RCV001953158]	uncertain significance	8	1771113	1771113	Human	1	name
8690555	CV140506	single nucleotide variant	NM_018941.4(CLN8):c.777T>C (p.Asn259=)	Inborn genetic diseases [RCV002316356]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV002483244]\|Neuronal ceroid lipofuscinosis [RCV001081685]\|not provided [RCV000632749]\|not specified [RCV000124346]	benign\|likely benign	8	1780483	1780483	Human	3	name , alternate_id
8690556	CV140507	single nucleotide variant	NM_018941.4(CLN8):c.844C>A (p.Arg282=)	Neuronal ceroid lipofuscinosis [RCV002055471]\|not specified [RCV000124347]	benign\|likely benign	8	1780550	1780550	Human	1	name
151723653	CV1425097	single nucleotide variant	NM_018941.4(CLN8):c.50A>T (p.Asp17Val)	Neuronal ceroid lipofuscinosis [RCV001891449]	uncertain significance	8	1771104	1771104	Human	1	name
151825311	CV1456725	single nucleotide variant	NM_018941.4(CLN8):c.77C>G (p.Thr26Arg)	Neuronal ceroid lipofuscinosis [RCV002050199]	uncertain significance	8	1771131	1771131	Human	1	name
151892440	CV1481097	single nucleotide variant	NM_018941.4(CLN8):c.555C>T (p.Ser185=)	Neuronal ceroid lipofuscinosis [RCV001944115]	likely benign	8	1780261	1780261	Human	1	name
152036407	CV1537076	single nucleotide variant	NM_018941.4(CLN8):c.367C>T (p.Leu123=)	Neuronal ceroid lipofuscinosis [RCV002205657]	likely benign	8	1771421	1771421	Human	1	name
152136914	CV1537895	single nucleotide variant	NM_018941.4(CLN8):c.360A>G (p.Ala120=)	Neuronal ceroid lipofuscinosis [RCV002177543]	likely benign	8	1771414	1771414	Human	1	name
152041147	CV1555850	single nucleotide variant	NM_018941.4(CLN8):c.804A>G (p.Pro268=)	Neuronal ceroid lipofuscinosis [RCV002188278]	likely benign	8	1780510	1780510	Human	1	name
152138522	CV1562656	single nucleotide variant	NM_018941.4(CLN8):c.420C>G (p.Leu140=)	Neuronal ceroid lipofuscinosis [RCV002100444]	likely benign	8	1771474	1771474	Human	1	name
152085965	CV1573807	single nucleotide variant	NM_018941.4(CLN8):c.390A>C (p.Thr130=)	Neuronal ceroid lipofuscinosis [RCV002149931]	likely benign	8	1771444	1771444	Human	1	name
152143547	CV1579679	single nucleotide variant	NM_018941.4(CLN8):c.759G>A (p.Lys253=)	Neuronal ceroid lipofuscinosis [RCV002084483]	likely benign	8	1780465	1780465	Human	1	name
152125489	CV1580882	single nucleotide variant	NM_018941.4(CLN8):c.774C>T (p.Leu258=)	Neuronal ceroid lipofuscinosis [RCV002082156]	likely benign	8	1780480	1780480	Human	1	name
152052548	CV1581091	single nucleotide variant	NM_018941.4(CLN8):c.387G>C (p.Arg129=)	Neuronal ceroid lipofuscinosis [RCV002089339]	likely benign	8	1771441	1771441	Human	1	name
152086720	CV1589836	single nucleotide variant	NM_018941.4(CLN8):c.846G>A (p.Arg282=)	Neuronal ceroid lipofuscinosis [RCV002193727]	likely benign	8	1780552	1780552	Human	1	name
152151210	CV1598248	single nucleotide variant	NM_018941.4(CLN8):c.753T>C (p.His251=)	Neuronal ceroid lipofuscinosis [RCV002121769]	likely benign	8	1780459	1780459	Human	1	name
152093415	CV1598705	single nucleotide variant	NM_018941.4(CLN8):c.475C>T (p.Leu159=)	Neuronal ceroid lipofuscinosis [RCV002172132]	likely benign	8	1771529	1771529	Human	1	name
152100274	CV1606691	single nucleotide variant	NM_018941.4(CLN8):c.588G>A (p.Leu196=)	Neuronal ceroid lipofuscinosis [RCV002195457]	likely benign	8	1780294	1780294	Human	1	name
152062634	CV1611949	single nucleotide variant	NM_018941.4(CLN8):c.669C>G (p.Val223=)	Neuronal ceroid lipofuscinosis [RCV002128527]	likely benign	8	1780375	1780375	Human	1	name
152114594	CV1612511	single nucleotide variant	NM_018941.4(CLN8):c.537C>T (p.Leu179=)	Neuronal ceroid lipofuscinosis [RCV002174762]	likely benign	8	1771591	1771591	Human	1	name
152106825	CV1612896	single nucleotide variant	NM_018941.4(CLN8):c.780G>C (p.Pro260=)	Neuronal ceroid lipofuscinosis [RCV002173822]	likely benign	8	1780486	1780486	Human	1	name
152033032	CV1614950	single nucleotide variant	NM_018941.4(CLN8):c.726G>C (p.Thr242=)	Neuronal ceroid lipofuscinosis [RCV002086697]	likely benign	8	1780432	1780432	Human	1	name
152141476	CV1628949	single nucleotide variant	NM_018941.4(CLN8):c.840G>C (p.Leu280=)	Neuronal ceroid lipofuscinosis [RCV002100835]	likely benign	8	1780546	1780546	Human	1	name
152142156	CV1629063	single nucleotide variant	NM_018941.4(CLN8):c.453C>G (p.Val151=)	Neuronal ceroid lipofuscinosis [RCV002100924]	likely benign	8	1771507	1771507	Human	1	name
152129337	CV1637452	single nucleotide variant	NM_018941.4(CLN8):c.741A>G (p.Pro247=)	Neuronal ceroid lipofuscinosis [RCV002217848]	likely benign	8	1780447	1780447	Human	1	name
152091643	CV1646942	single nucleotide variant	NM_018941.4(CLN8):c.624C>A (p.Thr208=)	Neuronal ceroid lipofuscinosis [RCV002150666]	likely benign	8	1780330	1780330	Human	1	name
152095944	CV1653324	single nucleotide variant	NM_018941.4(CLN8):c.588G>C (p.Leu196=)	Neuronal ceroid lipofuscinosis [RCV002094838]	likely benign	8	1780294	1780294	Human	1	name
152147328	CV1653640	single nucleotide variant	NM_018941.4(CLN8):c.849G>A (p.Lys283=)	Neuronal ceroid lipofuscinosis [RCV002138997]	likely benign	8	1780555	1780555	Human	1	name
152090985	CV1654951	single nucleotide variant	NM_018941.4(CLN8):c.411C>T (p.Ile137=)	Neuronal ceroid lipofuscinosis [RCV002212721]	likely benign	8	1771465	1771465	Human	1	name
152060536	CV1659643	single nucleotide variant	NM_018941.4(CLN8):c.459C>G (p.Leu153=)	Neuronal ceroid lipofuscinosis [RCV002073622]	likely benign	8	1771513	1771513	Human	1	name
152066158	CV1659881	single nucleotide variant	NM_018941.4(CLN8):c.390A>G (p.Thr130=)	Neuronal ceroid lipofuscinosis [RCV002147456]	likely benign	8	1771444	1771444	Human	1	name
152067079	CV1660043	single nucleotide variant	NM_018941.4(CLN8):c.399G>A (p.Leu133=)	Neuronal ceroid lipofuscinosis [RCV002147573]	likely benign	8	1771453	1771453	Human	1	name
8556999	CV17841	single nucleotide variant	NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)	Neuronal ceroid lipofuscinosis 8 [RCV000409951]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV000002936]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV005041973]\|Neuronal ceroid lipofuscinosis [RCV000820654]	pathogenic	8	1771124	1771124	Human	3	name , alternate_id
8557003	CV17845	single nucleotide variant	NM_018941.4(CLN8):c.88G>C (p.Ala30Pro)	Neuronal ceroid lipofuscinosis 8 [RCV000002940]	pathogenic	8	1771142	1771142	Human	1	name , alternate_id
155714832	CV1820876	single nucleotide variant	NM_018941.4(CLN8):c.85G>T (p.Val29Phe)	Inborn genetic diseases [RCV002447991]\|Neuronal ceroid lipofuscinosis [RCV003103519]	uncertain significance	8	1771139	1771139	Human	2	name
156374014	CV1875038	single nucleotide variant	NM_018941.4(CLN8):c.459C>T (p.Leu153=)	Neuronal ceroid lipofuscinosis [RCV003066544]	likely benign	8	1771513	1771513	Human	1	name
156029818	CV1893527	single nucleotide variant	NM_018941.4(CLN8):c.71G>T (p.Arg24Leu)	Neuronal ceroid lipofuscinosis [RCV003078046]	likely pathogenic	8	1771125	1771125	Human	1	name
10050832	CV192507	single nucleotide variant	NM_018941.4(CLN8):c.94T>G (p.Phe32Val)	Inborn genetic diseases [RCV002516693]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV002485142]\|Neuronal ceroid lipofuscinosis [RCV003114325]\|not provided [RCV000175908]	uncertain significance	8	1771148	1771148	Human	3	name , alternate_id
156362171	CV1931770	single nucleotide variant	NM_018941.4(CLN8):c.345C>T (p.Cys115=)	Neuronal ceroid lipofuscinosis [RCV002632754]	likely benign	8	1771399	1771399	Human	1	name
155981767	CV1972469	single nucleotide variant	NM_018941.4(CLN8):c.576C>T (p.Leu192=)	Neuronal ceroid lipofuscinosis [RCV002617633]	likely benign	8	1780282	1780282	Human	1	name
10395813	CV202200	single nucleotide variant	NM_018941.4(CLN8):c.50A>G (p.Asp17Gly)	Inborn genetic diseases [RCV002314706]\|Neuronal ceroid lipofuscinosis 8 [RCV000509429]\|Neuronal ceroid lipofuscinosis [RCV000823172]\|not provided [RCV000187135]	uncertain significance\|not provided	8	1771104	1771104	Human	3	name , alternate_id
10395814	CV202201	single nucleotide variant	NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe)	Inborn genetic diseases [RCV005318345]\|Neuronal ceroid lipofuscinosis 8 [RCV001833113]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV002485266]\|Neuronal ceroid lipofuscinosis [RCV000689837]\|not provided [RCV000711266]	uncertain significance	8	1771107	1771107	Human	4	name , alternate_id
10395815	CV202202	single nucleotide variant	NM_018941.4(CLN8):c.59C>G (p.Ser20Cys)	Inborn genetic diseases [RCV002317083]\|Intellectual disability [RCV001251947]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV002478656]\|Neuronal ceroid lipofuscinosis [RCV000534766]\|not provided [RCV000187137]	uncertain significance	8	1771113	1771113	Human	5	name , alternate_id
10395803	CV202210	single nucleotide variant	NM_018941.4(CLN8):c.522C>T (p.Cys174=)	CLN8-related disorder [RCV004539736]\|Inborn genetic diseases [RCV002336494]\|Neuronal ceroid lipofuscinosis [RCV001079239]\|not provided [RCV000729236]\|not specified [RCV000187122]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	1771576	1771576	Human	3	name , trait , alternate_id
10395801	CV202211	single nucleotide variant	NM_018941.4(CLN8):c.546G>A (p.Ala182=)	Inborn genetic diseases [RCV002317082]\|Intellectual disability [RCV001251945]\|Neuronal ceroid lipofuscinosis [RCV001081820]\|not provided [RCV001706161]\|not specified [RCV000187118]	benign\|likely benign	8	1780252	1780252	Human	4	name
156020681	CV2043133	single nucleotide variant	NM_018941.4(CLN8):c.798A>G (p.Ala266=)	Neuronal ceroid lipofuscinosis [RCV002780632]	likely benign	8	1780504	1780504	Human	1	name
156012844	CV2051540	single nucleotide variant	NM_018941.4(CLN8):c.684G>C (p.Leu228=)	Neuronal ceroid lipofuscinosis [RCV002820216]	likely benign	8	1780390	1780390	Human	1	name
156280346	CV2054941	single nucleotide variant	NM_018941.4(CLN8):c.841C>T (p.Leu281=)	Neuronal ceroid lipofuscinosis [RCV002832818]	likely benign	8	1780547	1780547	Human	1	name
156050404	CV2060024	single nucleotide variant	NM_018941.4(CLN8):c.477A>G (p.Leu159=)	Neuronal ceroid lipofuscinosis [RCV002796748]	likely benign	8	1771531	1771531	Human	1	name
156355499	CV2062670	single nucleotide variant	NM_018941.4(CLN8):c.678G>A (p.Leu226=)	Neuronal ceroid lipofuscinosis [RCV002812098]	likely benign	8	1780384	1780384	Human	1	name
156167976	CV2075388	single nucleotide variant	NM_018941.4(CLN8):c.375C>T (p.Asn125=)	Neuronal ceroid lipofuscinosis [RCV002851443]	likely benign	8	1771429	1771429	Human	1	name
156091234	CV2102677	single nucleotide variant	NM_018941.4(CLN8):c.699G>C (p.Leu233=)	Neuronal ceroid lipofuscinosis [RCV002913045]	likely benign	8	1780405	1780405	Human	1	name
156334073	CV2112962	single nucleotide variant	NM_018941.4(CLN8):c.71G>A (p.Arg24His)	Neuronal ceroid lipofuscinosis [RCV002938528]\|not specified [RCV003331405]	likely pathogenic\|uncertain significance	8	1771125	1771125	Human	1	name
155996551	CV2122615	single nucleotide variant	NM_018941.4(CLN8):c.750C>T (p.Thr250=)	Neuronal ceroid lipofuscinosis [RCV002974980]	likely benign	8	1780456	1780456	Human	1	name
155911440	CV2152169	single nucleotide variant	NM_018941.4(CLN8):c.453C>T (p.Val151=)	Neuronal ceroid lipofuscinosis [RCV002991351]	likely benign	8	1771507	1771507	Human	1	name
156063603	CV2158325	single nucleotide variant	NM_018941.4(CLN8):c.555C>G (p.Ser185=)	Neuronal ceroid lipofuscinosis [RCV003019816]	likely benign	8	1780261	1780261	Human	1	name
156371565	CV2164660	single nucleotide variant	NM_018941.4(CLN8):c.376T>C (p.Leu126=)	Neuronal ceroid lipofuscinosis [RCV003032272]	likely benign	8	1771430	1771430	Human	1	name
156274479	CV2187610	single nucleotide variant	NM_018941.4(CLN8):c.705T>G (p.Leu235=)	Neuronal ceroid lipofuscinosis [RCV003044567]	likely benign	8	1780411	1780411	Human	1	name
156144213	CV2190153	single nucleotide variant	NM_018941.4(CLN8):c.576C>G (p.Leu192=)	Neuronal ceroid lipofuscinosis [RCV003056299]	likely benign	8	1780282	1780282	Human	1	name
156161909	CV2191878	single nucleotide variant	NM_018941.4(CLN8):c.714G>A (p.Leu238=)	Neuronal ceroid lipofuscinosis [RCV003040740]	likely benign	8	1780420	1780420	Human	1	name
11347886	CV240333	single nucleotide variant	NM_018941.4(CLN8):c.94T>C (p.Phe32Leu)	Neuronal ceroid lipofuscinosis 8 [RCV001835735]\|Neuronal ceroid lipofuscinosis [RCV000233655]\|not provided [RCV001753706]	uncertain significance	8	1771148	1771148	Human	2	name , alternate_id
11640046	CV266311	single nucleotide variant	NM_018941.4(CLN8):c.648C>T (p.Phe216=)	Inborn genetic diseases [RCV002365298]\|Neuronal ceroid lipofuscinosis [RCV001085032]\|not provided [RCV000725017]\|not specified [RCV000331844]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	1780354	1780354	Human	2	name
11640490	CV269510	single nucleotide variant	NM_018941.4(CLN8):c.838C>T (p.Leu280=)	Neuronal ceroid lipofuscinosis [RCV001479855]\|not provided [RCV000339809]	likely benign\|uncertain significance	8	1780544	1780544	Human	1	name
11641125	CV270204	single nucleotide variant	NM_018941.4(CLN8):c.837G>A (p.Gln279=)	not provided [RCV000351403]	uncertain significance	8	1780543	1780543	Human		name
11636437	CV271746	single nucleotide variant	NM_018941.4(CLN8):c.47T>G (p.Leu16Arg)	not provided [RCV000267546]	uncertain significance	8	1771101	1771101	Human		name
401914171	CV2830583	single nucleotide variant	NM_018941.4(CLN8):c.80T>C (p.Leu27Pro)	not provided [RCV003442321]	uncertain significance	8	1771134	1771134	Human		name
405073678	CV2853858	single nucleotide variant	NM_018941.4(CLN8):c.76A>T (p.Thr26Ser)	Neuronal ceroid lipofuscinosis [RCV003533886]	uncertain significance	8	1771130	1771130	Human	1	name
405075218	CV2856152	single nucleotide variant	NM_018941.4(CLN8):c.861G>A (p.Ter287=)	Neuronal ceroid lipofuscinosis [RCV003533995]	likely benign	8	1780567	1780567	Human	1	name
405074884	CV2865695	single nucleotide variant	NM_018941.4(CLN8):c.366C>T (p.His122=)	Neuronal ceroid lipofuscinosis [RCV003533973]	likely benign	8	1771420	1771420	Human	1	name
405076811	CV2871872	single nucleotide variant	NM_018941.4(CLN8):c.384C>T (p.Phe128=)	Neuronal ceroid lipofuscinosis [RCV003534103]	likely benign	8	1771438	1771438	Human	1	name
405076445	CV2878206	single nucleotide variant	NM_018941.4(CLN8):c.663C>A (p.Gly221=)	Neuronal ceroid lipofuscinosis [RCV003534075]	likely benign	8	1780369	1780369	Human	1	name
405058210	CV2913576	single nucleotide variant	NM_018941.4(CLN8):c.855G>A (p.Arg285=)	Neuronal ceroid lipofuscinosis [RCV003531784]	likely benign	8	1780561	1780561	Human	1	name
405057615	CV2918670	deletion	NM_018941.4(CLN8):c.160del (p.Arg54fs)	Neuronal ceroid lipofuscinosis [RCV003531733]	pathogenic	8	1771213	1771213	Human	1	name
405062885	CV2924496	single nucleotide variant	NM_018941.4(CLN8):c.369G>A (p.Leu123=)	Neuronal ceroid lipofuscinosis [RCV003532532]	likely benign	8	1771423	1771423	Human	1	name
404996163	CV2959139	single nucleotide variant	NM_018941.4(CLN8):c.618T>G (p.Val206=)	Neuronal ceroid lipofuscinosis [RCV003647460]	likely benign	8	1780324	1780324	Human	1	name
404998726	CV2967889	single nucleotide variant	NM_018941.4(CLN8):c.429T>C (p.Phe143=)	Neuronal ceroid lipofuscinosis [RCV003647620]	likely benign	8	1771483	1771483	Human	1	name
404998254	CV2968564	single nucleotide variant	NM_018941.4(CLN8):c.405G>A (p.Leu135=)	Neuronal ceroid lipofuscinosis [RCV003647672]	likely benign	8	1771459	1771459	Human	1	name
404998481	CV2975944	single nucleotide variant	NM_018941.4(CLN8):c.496C>T (p.Leu166=)	Neuronal ceroid lipofuscinosis [RCV003647695]	likely benign	8	1771550	1771550	Human	1	name
404998502	CV2976194	single nucleotide variant	NM_018941.4(CLN8):c.513C>A (p.Pro171=)	Neuronal ceroid lipofuscinosis [RCV003647697]	likely benign	8	1771567	1771567	Human	1	name
405004531	CV2993145	single nucleotide variant	NM_018941.4(CLN8):c.324G>T (p.Thr108=)	Neuronal ceroid lipofuscinosis [RCV003648414]	likely benign	8	1771378	1771378	Human	1	name
405003713	CV2994307	single nucleotide variant	NM_018941.4(CLN8):c.697C>T (p.Leu233=)	Neuronal ceroid lipofuscinosis [RCV003648340]	likely benign	8	1780403	1780403	Human	1	name
405003750	CV2994451	single nucleotide variant	NM_018941.4(CLN8):c.675C>T (p.Ser225=)	Neuronal ceroid lipofuscinosis [RCV003648344]	likely benign	8	1780381	1780381	Human	1	name
405003686	CV2997922	single nucleotide variant	NM_018941.4(CLN8):c.612C>T (p.Arg204=)	Neuronal ceroid lipofuscinosis [RCV003648337]	likely benign	8	1780318	1780318	Human	1	name
405005349	CV3009420	single nucleotide variant	NM_018941.4(CLN8):c.561T>C (p.Ser187=)	Neuronal ceroid lipofuscinosis [RCV003648484]	likely benign	8	1780267	1780267	Human	1	name
405005760	CV3013459	single nucleotide variant	NM_018941.4(CLN8):c.834G>A (p.Gly278=)	Neuronal ceroid lipofuscinosis [RCV003648523]	likely benign	8	1780540	1780540	Human	1	name
405007397	CV3042571	single nucleotide variant	NM_018941.4(CLN8):c.561T>A (p.Ser187=)	Neuronal ceroid lipofuscinosis [RCV003648712]	likely benign	8	1780267	1780267	Human	1	name
405008975	CV3060070	single nucleotide variant	NM_018941.4(CLN8):c.510G>C (p.Thr170=)	Neuronal ceroid lipofuscinosis [RCV003648857]	likely benign	8	1771564	1771564	Human	1	name
405194001	CV3128542	single nucleotide variant	NM_018941.4(CLN8):c.810C>G (p.Ala270=)	Neuronal ceroid lipofuscinosis [RCV003821279]	likely benign	8	1780516	1780516	Human	1	name
405253855	CV3178705	single nucleotide variant	NM_018941.4(CLN8):c.327A>G (p.Thr109=)	Neuronal ceroid lipofuscinosis [RCV003871307]	likely benign	8	1771381	1771381	Human	1	name
12739631	CV357630	deletion	NM_018941.4(CLN8):c.263del (p.Asp88fs)	Neuronal ceroid lipofuscinosis 8 [RCV000410063]\|Neuronal ceroid lipofuscinosis [RCV003532091]	pathogenic\|likely pathogenic	8	1771317	1771317	Human	2	name , alternate_id
12847513	CV369885	single nucleotide variant	NM_018941.4(CLN8):c.495C>T (p.Leu165=)	CLN8-related disorder [RCV004533134]\|Neuronal ceroid lipofuscinosis [RCV000928466]\|not specified [RCV000443623]	likely benign	8	1771549	1771549	Human	2	name , trait , alternate_id
12841728	CV369889	single nucleotide variant	NM_018941.4(CLN8):c.708C>T (p.Val236=)	Neuronal ceroid lipofuscinosis [RCV000868298]\|not provided [RCV001712186]	likely benign	8	1780414	1780414	Human	1	name
12841871	CV371735	single nucleotide variant	NM_018941.4(CLN8):c.88G>A (p.Ala30Thr)	not provided [RCV000433355]	uncertain significance	8	1771142	1771142	Human		name
12837095	CV371752	single nucleotide variant	NM_018941.4(CLN8):c.318C>T (p.His106=)	Inborn genetic diseases [RCV002318381]\|Neuronal ceroid lipofuscinosis [RCV000864095]\|not provided [RCV001718818]	benign\|likely benign	8	1771372	1771372	Human	2	name
12843067	CV371753	single nucleotide variant	NM_018941.4(CLN8):c.513C>G (p.Pro171=)	CLN8-related disorder [RCV004539856]\|Inborn genetic diseases [RCV002339051]\|Neuronal ceroid lipofuscinosis [RCV001081197]\|not provided [RCV000726643]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	1771567	1771567	Human	3	name , trait , alternate_id
12837912	CV371761	single nucleotide variant	NM_018941.4(CLN8):c.831C>T (p.Asn277=)	Neuronal ceroid lipofuscinosis [RCV000945013]\|not specified [RCV000425995]	likely benign	8	1780537	1780537	Human	1	name
12846823	CV371762	single nucleotide variant	NM_018941.4(CLN8):c.843G>A (p.Leu281=)	Inborn genetic diseases [RCV002446649]\|Neuronal ceroid lipofuscinosis [RCV000864145]\|not specified [RCV000442387]	likely benign	8	1780549	1780549	Human	2	name
597939394	CV3775335	deletion	NM_018941.4(CLN8):c.237del (p.Ala80fs)	Neuronal ceroid lipofuscinosis [RCV005118161]	pathogenic	8	1771290	1771290	Human	1	name
597868305	CV3838874	single nucleotide variant	NM_018941.4(CLN8):c.435G>A (p.Gly145=)	Neuronal ceroid lipofuscinosis [RCV005176170]	likely benign	8	1771489	1771489	Human	1	name
12892070	CV396146	single nucleotide variant	NM_018941.4(CLN8):c.77C>T (p.Thr26Met)	Neuronal ceroid lipofuscinosis 8 [RCV001835809]\|Neuronal ceroid lipofuscinosis [RCV000474156]\|not provided [RCV002260640]	uncertain significance	8	1771131	1771131	Human	2	name , alternate_id
12898814	CV407351	single nucleotide variant	NM_018941.4(CLN8):c.88G>T (p.Ala30Ser)	Neuronal ceroid lipofuscinosis 8 [RCV001835821]\|not provided [RCV000478754]	uncertain significance	8	1771142	1771142	Human	1	name , alternate_id
13480094	CV458287	single nucleotide variant	NM_018941.4(CLN8):c.666G>A (p.Leu222=)	CLN8-related disorder [RCV004541647]\|Inborn genetic diseases [RCV002314947]\|Neuronal ceroid lipofuscinosis [RCV000528374]	likely benign	8	1780372	1780372	Human	3	name , trait , alternate_id
13522167	CV490688	single nucleotide variant	NM_018941.4(CLN8):c.510G>A (p.Thr170=)	Inborn genetic diseases [RCV002341522]\|Neuronal ceroid lipofuscinosis 8 [RCV001829650]\|Neuronal ceroid lipofuscinosis [RCV001088085]\|not provided [RCV000591388]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	1771564	1771564	Human	3	name , alternate_id
13531709	CV511751	single nucleotide variant	NM_018941.4(CLN8):c.92G>A (p.Gly31Asp)	Inborn genetic diseases [RCV000623561]	likely pathogenic	8	1771146	1771146	Human	1	name
13615355	CV523404	single nucleotide variant	NM_018941.4(CLN8):c.726G>A (p.Thr242=)	Neuronal ceroid lipofuscinosis [RCV000632722]	likely benign	8	1780432	1780432	Human	1	name
13615358	CV523688	single nucleotide variant	NM_018941.4(CLN8):c.408T>A (p.Val136=)	Neuronal ceroid lipofuscinosis [RCV000632724]	likely benign	8	1771462	1771462	Human	1	name
13615383	CV523691	single nucleotide variant	NM_018941.4(CLN8):c.630C>T (p.His210=)	Neuronal ceroid lipofuscinosis [RCV000632745]	likely benign	8	1780336	1780336	Human	1	name
13615392	CV523960	single nucleotide variant	NM_018941.4(CLN8):c.324G>A (p.Thr108=)	Neuronal ceroid lipofuscinosis [RCV000632754]	likely benign	8	1771378	1771378	Human	1	name
13786657	CV544692	deletion	NM_018941.4(CLN8):c.204del (p.Thr69fs)	Neuronal ceroid lipofuscinosis 8 [RCV000673003]	likely pathogenic	8	1771257	1771257	Human	1	name , alternate_id
13830543	CV579374	single nucleotide variant	NM_018941.4(CLN8):c.780G>A (p.Pro260=)	Inborn genetic diseases [RCV002318138]\|Neuronal ceroid lipofuscinosis [RCV000871217]\|not provided [RCV001615046]	likely benign	8	1780486	1780486	Human	2	name
14399123	CV614318	single nucleotide variant	NM_018941.4(CLN8):c.98T>C (p.Val33Ala)	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV000768187]	uncertain significance	8	1771152	1771152	Human	1	name , alternate_id
14739817	CV637012	single nucleotide variant	NM_018941.4(CLN8):c.70C>T (p.Arg24Cys)	Neuronal ceroid lipofuscinosis 8 [RCV001830811]\|Neuronal ceroid lipofuscinosis [RCV000821519]\|not specified [RCV004689898]	uncertain significance	8	1771124	1771124	Human	2	name , alternate_id
15156429	CV687253	single nucleotide variant	NM_018941.4(CLN8):c.300G>A (p.Gln100=)	CLN8-related disorder [RCV004538269]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV002507503]\|Neuronal ceroid lipofuscinosis [RCV000868230]	likely benign	8	1771354	1771354	Human	3	name , trait , alternate_id
15142655	CV687254	single nucleotide variant	NM_018941.4(CLN8):c.333G>A (p.Thr111=)	Inborn genetic diseases [RCV002319973]\|Neuronal ceroid lipofuscinosis [RCV000865588]\|not provided [RCV001575058]	likely benign	8	1771387	1771387	Human	2	name
15147694	CV687255	single nucleotide variant	NM_018941.4(CLN8):c.363C>A (p.Val121=)	CLN8-related disorder [RCV004538241]\|Neuronal ceroid lipofuscinosis [RCV000866511]\|not provided [RCV001675970]	likely benign	8	1771417	1771417	Human	2	name , trait , alternate_id
15155098	CV687256	single nucleotide variant	NM_018941.4(CLN8):c.582G>A (p.Gln194=)	Neuronal ceroid lipofuscinosis [RCV001272623]	likely benign\|uncertain significance	8	1780288	1780288	Human	1	name
15151098	CV687257	single nucleotide variant	NM_018941.4(CLN8):c.804A>C (p.Pro268=)	Neuronal ceroid lipofuscinosis [RCV001442069]	likely benign	8	1780510	1780510	Human	1	name
15158157	CV687258	single nucleotide variant	NM_018941.4(CLN8):c.858A>G (p.Pro286=)	Neuronal ceroid lipofuscinosis [RCV000868583]	likely benign	8	1780564	1780564	Human	1	name
8617437	CV71348	single nucleotide variant	NM_018941.4(CLN8):c.46C>A (p.Leu16Met)	Neuronal ceroid lipofuscinosis 8 [RCV000050122]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV002490626]\|Neuronal ceroid lipofuscinosis [RCV002513704]\|not provided [RCV000265266]\|not specified [RCV003323381]	likely pathogenic\|uncertain significance	8	1771100	1771100	Human	3	name , alternate_id
8617439	CV71350	single nucleotide variant	NM_018941.4(CLN8):c.507C>T (p.Ser169=)	Neuronal ceroid lipofuscinosis 8 [RCV000050124]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity	8	1771561	1771561	Human	1	name , alternate_id
15146652	CV766706	single nucleotide variant	NM_018941.4(CLN8):c.336A>T (p.Gly112=)	Neuronal ceroid lipofuscinosis [RCV001503269]	likely benign	8	1771390	1771390	Human	1	name
15130040	CV766707	single nucleotide variant	NM_018941.4(CLN8):c.489G>A (p.Thr163=)	Neuronal ceroid lipofuscinosis [RCV000941985]	likely benign	8	1771543	1771543	Human	1	name
15114872	CV766708	single nucleotide variant	NM_018941.4(CLN8):c.609C>T (p.Cys203=)	Neuronal ceroid lipofuscinosis [RCV001424326]	likely benign	8	1780315	1780315	Human	1	name
8626547	CV81691	single nucleotide variant	NM_018941.3(CLN8):c.84G>A (p.Met28Ile)	Malignant melanoma [RCV000061769]	not provided	8	1771138	1771138	Human		name
38468315	CV934229	single nucleotide variant	NM_018941.4(CLN8):c.29C>T (p.Ser10Leu)	Neuronal ceroid lipofuscinosis [RCV001203347]	uncertain significance	8	1771083	1771083	Human	1	name
38460281	CV945996	single nucleotide variant	NM_018941.4(CLN8):c.97G>C (p.Val33Leu)	Neuronal ceroid lipofuscinosis [RCV001227421]	uncertain significance	8	1771151	1771151	Human	1	name
38467414	CV955379	single nucleotide variant	NM_018941.4(CLN8):c.39T>G (p.Ile13Met)	Inborn genetic diseases [RCV004034712]\|Neuronal ceroid lipofuscinosis [RCV001242347]	uncertain significance	8	1771093	1771093	Human	2	name
40906113	CV978455	single nucleotide variant	NM_018941.4(CLN8):c.37A>G (p.Ile13Val)	Neuronal ceroid lipofuscinosis 8 [RCV001279439]\|Neuronal ceroid lipofuscinosis [RCV001871568]	uncertain significance	8	1771091	1771091	Human	2	name , alternate_id
126757676	CV992714	single nucleotide variant	NM_018941.4(CLN8):c.462A>G (p.Gln154=)	Neuronal ceroid lipofuscinosis [RCV001308493]	likely benign\|uncertain significance	8	1771516	1771516	Human	1	name
126769949	CV1007944	single nucleotide variant	NM_018941.4(CLN8):c.265C>G (p.Pro89Ala)	Neuronal ceroid lipofuscinosis [RCV001322272]	uncertain significance	8	1771319	1771319	Human	1	name
126919759	CV1045432	single nucleotide variant	NM_018941.4(CLN8):c.209G>C (p.Arg70Pro)	Neuronal ceroid lipofuscinosis 8 [RCV002246347]\|Neuronal ceroid lipofuscinosis [RCV001373416]	likely pathogenic\|uncertain significance	8	1771263	1771263	Human	2	name , alternate_id
127263858	CV1061285	single nucleotide variant	NM_018941.4(CLN8):c.130C>T (p.Gln44Ter)	Neuronal ceroid lipofuscinosis [RCV001381074]	pathogenic	8	1771184	1771184	Human	1	name
8659322	CV134237	single nucleotide variant	NM_018941.4(CLN8):c.274C>T (p.His92Tyr)	Inborn genetic diseases [RCV002313870]\|Neuronal ceroid lipofuscinosis 8 [RCV001831905]\|Neuronal ceroid lipofuscinosis [RCV001084252]\|not provided [RCV000224365]\|not specified [RCV000116761]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	1771328	1771328	Human	3	name , alternate_id
151763250	CV1357043	single nucleotide variant	NM_018941.4(CLN8):c.109G>A (p.Gly37Ser)	Neuronal ceroid lipofuscinosis [RCV001970430]	uncertain significance	8	1771163	1771163	Human	1	name
8690559	CV140510	single nucleotide variant	NM_018941.4(CLN8):c.290G>A (p.Arg97His)	CLN8-related disorder [RCV004542937]\|Inborn genetic diseases [RCV002316357]\|Neuronal ceroid lipofuscinosis [RCV001079899]\|not provided [RCV000711264]\|not specified [RCV000175909]	benign\|likely benign	8	1771344	1771344	Human	3	name , trait , alternate_id
151869617	CV1413737	single nucleotide variant	NM_018941.4(CLN8):c.278C>G (p.Ala93Gly)	Neuronal ceroid lipofuscinosis [RCV002018768]	uncertain significance	8	1771332	1771332	Human	1	name
151766325	CV1418839	single nucleotide variant	NM_018941.4(CLN8):c.137C>A (p.Ser46Tyr)	Neuronal ceroid lipofuscinosis [RCV001929084]	uncertain significance	8	1771191	1771191	Human	1	name
151841410	CV1428664	single nucleotide variant	NM_018941.4(CLN8):c.126C>A (p.Cys42Ter)	Neuronal ceroid lipofuscinosis [RCV001994795]	pathogenic	8	1771180	1771180	Human	1	name
151757015	CV1438630	single nucleotide variant	NM_018941.4(CLN8):c.105C>G (p.Tyr35Ter)	Neuronal ceroid lipofuscinosis [RCV002007433]	pathogenic	8	1771159	1771159	Human	1	name
152978716	CV1671769	deletion	NM_018941.4(CLN8):c.637del (p.Trp213fs)	Neuronal ceroid lipofuscinosis 8 [RCV002227868]\|not provided [RCV003138104]	likely pathogenic\|uncertain significance	8	1780343	1780343	Human	1	name , alternate_id
153305726	CV1688767	deletion	NM_018941.4(CLN8):c.725del (p.Thr242fs)	Neuronal ceroid lipofuscinosis [RCV002266506]	likely pathogenic	8	1780431	1780431	Human	1	name
155684553	CV1827051	single nucleotide variant	NM_018941.4(CLN8):c.149A>G (p.Asn50Ser)	Inborn genetic diseases [RCV002389862]	uncertain significance	8	1771203	1771203	Human	1	name
156257341	CV1875429	single nucleotide variant	NM_018941.4(CLN8):c.160C>A (p.Arg54Ser)	Neuronal ceroid lipofuscinosis [RCV003060236]	uncertain significance	8	1771214	1771214	Human	1	name
156150511	CV1895930	single nucleotide variant	NM_018941.4(CLN8):c.159C>A (p.Tyr53Ter)	Neuronal ceroid lipofuscinosis [RCV003082535]	pathogenic	8	1771213	1771213	Human	1	name
156418490	CV1922231	single nucleotide variant	NM_018941.4(CLN8):c.268G>T (p.Val90Leu)	Neuronal ceroid lipofuscinosis [RCV002611687]	uncertain significance	8	1771322	1771322	Human	1	name
10050831	CV192506	single nucleotide variant	NM_018941.4(CLN8):c.200C>T (p.Ala67Val)	Inborn genetic diseases [RCV002317017]\|Neuronal ceroid lipofuscinosis 1 [RCV003224189]\|Neuronal ceroid lipofuscinosis 8 [RCV001273351]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV001838985]\|Neuronal ceroid lipofuscinosis [RCV000632691]\|not provided [RCV000724133]\|not specified [RC ... (more) V004782284]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	8	1771254	1771254	Human	5	name , alternate_id
156444026	CV1941305	single nucleotide variant	NM_018941.4(CLN8):c.163T>G (p.Ser55Ala)	Neuronal ceroid lipofuscinosis [RCV003114942]	uncertain significance	8	1771217	1771217	Human	1	name
156326754	CV1972764	single nucleotide variant	NM_018941.4(CLN8):c.227A>C (p.Gln76Pro)	Neuronal ceroid lipofuscinosis [RCV002600571]	uncertain significance	8	1771281	1771281	Human	1	name
10397391	CV202203	single nucleotide variant	NM_018941.4(CLN8):c.176G>C (p.Arg59Thr)	not provided [RCV000187138]	uncertain significance	8	1771230	1771230	Human		name
156096490	CV2027123	single nucleotide variant	NM_018941.4(CLN8):c.194A>T (p.Asp65Val)	Neuronal ceroid lipofuscinosis [RCV002761147]	uncertain significance	8	1771248	1771248	Human	1	name
156210368	CV2114383	single nucleotide variant	NM_018941.4(CLN8):c.187T>C (p.Phe63Leu)	Neuronal ceroid lipofuscinosis [RCV002932037]	uncertain significance	8	1771241	1771241	Human	1	name
156163012	CV2135571	single nucleotide variant	NM_018941.4(CLN8):c.229A>G (p.Ser77Gly)	Neuronal ceroid lipofuscinosis [RCV002983075]	uncertain significance	8	1771283	1771283	Human	1	name
155971038	CV2139735	single nucleotide variant	NM_018941.4(CLN8):c.236C>T (p.Ala79Val)	Neuronal ceroid lipofuscinosis [RCV002995626]	uncertain significance	8	1771290	1771290	Human	1	name
21067545	CV214538	single nucleotide variant	NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)	Neuronal ceroid lipofuscinosis [RCV000988028]	likely pathogenic	8	1771262	1771262	Human	1	name
156181214	CV2155527	duplication	NM_018941.4(CLN8):c.801dup (p.Pro268fs)	Neuronal ceroid lipofuscinosis [RCV003005709]	uncertain significance	8	1780506	1780507	Human	1	name
156293065	CV2156542	single nucleotide variant	NM_018941.4(CLN8):c.265C>A (p.Pro89Thr)	Neuronal ceroid lipofuscinosis [RCV003010045]	uncertain significance	8	1771319	1771319	Human	1	name
156136127	CV2165667	single nucleotide variant	NM_018941.4(CLN8):c.182A>C (p.Lys61Thr)	Neuronal ceroid lipofuscinosis [RCV003022358]	uncertain significance	8	1771236	1771236	Human	1	name
401924333	CV2795134	duplication	NM_018941.4(CLN8):c.424dup (p.Ala142fs)	Neuronal ceroid lipofuscinosis 8 [RCV003388908]	pathogenic	8	1771477	1771478	Human	1	name , alternate_id
405057453	CV2904274	deletion	NM_018941.4(CLN8):c.548del (p.Gly183fs)	Neuronal ceroid lipofuscinosis [RCV003531719]	pathogenic	8	1780252	1780252	Human	1	name
405058272	CV2909373	deletion	NM_018941.4(CLN8):c.315del (p.His106fs)	Neuronal ceroid lipofuscinosis [RCV003531789]	pathogenic	8	1771367	1771367	Human	1	name
405004855	CV3004312	deletion	NM_018941.4(CLN8):c.555del (p.Glu186fs)	Neuronal ceroid lipofuscinosis [RCV003648442]	pathogenic	8	1780260	1780260	Human	1	name
408384296	CV3520063	single nucleotide variant	NM_018941.4(CLN8):c.122T>G (p.Val41Gly)	not provided [RCV004759884]	uncertain significance	8	1771176	1771176	Human		name
597647313	CV3656838	single nucleotide variant	NM_018941.4(CLN8):c.129C>A (p.His43Gln)	Inborn genetic diseases [RCV004973981]	uncertain significance	8	1771183	1771183	Human	1	name
12838820	CV369455	single nucleotide variant	NM_018941.4(CLN8):c.287C>T (p.Ala96Val)	Neuronal ceroid lipofuscinosis 8 [RCV001828459]\|Neuronal ceroid lipofuscinosis [RCV001056645]\|not provided [RCV000427663]	uncertain significance	8	1771341	1771341	Human	2	name , alternate_id
597651915	CV3722623	duplication	NM_018941.4(CLN8):c.353dup (p.Asn118fs)	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV005041087]	likely pathogenic	8	1771403	1771404	Human	1	name , alternate_id
597941818	CV3769270	single nucleotide variant	NM_018941.4(CLN8):c.191G>A (p.Trp64Ter)	Neuronal ceroid lipofuscinosis [RCV005118765]	pathogenic	8	1771245	1771245	Human	1	name
597958748	CV3848537	single nucleotide variant	NM_018941.4(CLN8):c.289C>A (p.Arg97Ser)	Neuronal ceroid lipofuscinosis [RCV005192238]	uncertain significance	8	1771343	1771343	Human	1	name
597967816	CV3853270	single nucleotide variant	NM_018941.4(CLN8):c.230G>A (p.Ser77Asn)	Neuronal ceroid lipofuscinosis [RCV005194912]	uncertain significance	8	1771284	1771284	Human	1	name
12892043	CV396496	single nucleotide variant	NM_018941.4(CLN8):c.108G>C (p.Leu36Phe)	Neuronal ceroid lipofuscinosis 8 [RCV001828469]\|Neuronal ceroid lipofuscinosis [RCV000457104]	uncertain significance	8	1771162	1771162	Human	2	name , alternate_id
12901800	CV407352	single nucleotide variant	NM_018941.4(CLN8):c.112G>A (p.Val38Ile)	Inborn genetic diseases [RCV002323826]\|Neuronal ceroid lipofuscinosis [RCV001070123]\|not provided [RCV000485583]	uncertain significance	8	1771166	1771166	Human	2	name
12900133	CV407353	single nucleotide variant	NM_018941.4(CLN8):c.296A>G (p.Gln99Arg)	not provided [RCV000481732]	uncertain significance	8	1771350	1771350	Human		name
13212155	CV425789	single nucleotide variant	NM_018941.4(CLN8):c.265C>T (p.Pro89Ser)	not provided [RCV000498421]	uncertain significance	8	1771319	1771319	Human		name
13472812	CV444258	single nucleotide variant	NM_018941.4(CLN8):c.266C>G (p.Pro89Arg)	Neuronal ceroid lipofuscinosis 8 [RCV001829503]\|Neuronal ceroid lipofuscinosis [RCV001240048]\|not provided [RCV000519221]	uncertain significance	8	1771320	1771320	Human	2	name , alternate_id
13497341	CV458651	deletion	NM_018941.4(CLN8):c.703del (p.Val236fs)	Inborn genetic diseases [RCV000624374]\|Neuronal ceroid lipofuscinosis [RCV000538526]	pathogenic\|likely pathogenic\|uncertain significance	8	1780408	1780408	Human	2	name
13517418	CV490690	single nucleotide variant	NM_018941.4(CLN8):c.151G>A (p.Ala51Thr)	Neuronal ceroid lipofuscinosis [RCV002531040]\|not provided [RCV000596520]	likely benign\|uncertain significance	8	1771205	1771205	Human	1	name
13615353	CV523398	single nucleotide variant	NM_018941.4(CLN8):c.106T>A (p.Leu36Met)	Neuronal ceroid lipofuscinosis [RCV000632721]	uncertain significance	8	1771160	1771160	Human	1	name
13784614	CV544401	deletion	NM_018941.4(CLN8):c.594del (p.His199fs)	Neuronal ceroid lipofuscinosis 8 [RCV000671057]	likely pathogenic	8	1780299	1780299	Human	1	name , alternate_id
13784547	CV544695	single nucleotide variant	NM_018941.4(CLN8):c.283A>T (p.Lys95Ter)	Neuronal ceroid lipofuscinosis 8 [RCV000670971]\|Neuronal ceroid lipofuscinosis [RCV001868250]	pathogenic\|likely pathogenic	8	1771337	1771337	Human	2	name , alternate_id
13785946	CV544748	single nucleotide variant	NM_018941.4(CLN8):c.226C>T (p.Gln76Ter)	Neuronal ceroid lipofuscinosis 8 [RCV000672400]\|Neuronal ceroid lipofuscinosis [RCV002532124]	pathogenic\|likely pathogenic	8	1771280	1771280	Human	2	name , alternate_id
13802963	CV562256	single nucleotide variant	NM_018941.4(CLN8):c.117T>G (p.Phe39Leu)	Neuronal ceroid lipofuscinosis 8 [RCV001825354]\|Neuronal ceroid lipofuscinosis [RCV000693987]	uncertain significance	8	1771171	1771171	Human	2	name , alternate_id
13802924	CV562782	single nucleotide variant	NM_018941.4(CLN8):c.140C>T (p.Ser47Phe)	Inborn genetic diseases [RCV002388219]\|Intellectual disability [RCV001251944]\|Neuronal ceroid lipofuscinosis 8 [RCV001829905]\|Neuronal ceroid lipofuscinosis [RCV000689026]	likely benign\|uncertain significance	8	1771194	1771194	Human	5	name , alternate_id
13808956	CV577054	single nucleotide variant	NM_018941.4(CLN8):c.161G>A (p.Arg54His)	Inborn genetic diseases [RCV002312245]\|Neuronal ceroid lipofuscinosis 8 [RCV001835934]\|Neuronal ceroid lipofuscinosis [RCV001309470]\|not provided [RCV000711263]	uncertain significance	8	1771215	1771215	Human	3	name , alternate_id
14724523	CV637013	single nucleotide variant	NM_018941.4(CLN8):c.127C>T (p.His43Tyr)	Neuronal ceroid lipofuscinosis [RCV000814818]	uncertain significance	8	1771181	1771181	Human	1	name
14739858	CV637014	single nucleotide variant	NM_018941.4(CLN8):c.284A>G (p.Lys95Arg)	Neuronal ceroid lipofuscinosis 8 [RCV001825595]\|Neuronal ceroid lipofuscinosis [RCV000805115]	uncertain significance	8	1771338	1771338	Human	2	name , alternate_id
14711767	CV637015	single nucleotide variant	NM_018941.4(CLN8):c.295C>T (p.Gln99Ter)	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV005047096]\|Neuronal ceroid lipofuscinosis [RCV000810062]\|not provided [RCV005427308]	pathogenic\|likely pathogenic	8	1771349	1771349	Human	2	name , alternate_id
8617432	CV71343	single nucleotide variant	NM_018941.4(CLN8):c.209G>A (p.Arg70His)	Inborn genetic diseases [RCV000623329]\|Neuronal ceroid lipofuscinosis 8 [RCV000050117]\|Neuronal ceroid lipofuscinosis [RCV000464589]	pathogenic\|likely pathogenic\|uncertain significance	8	1771263	1771263	Human	3	name , alternate_id
8617433	CV71344	single nucleotide variant	NM_018941.4(CLN8):c.227A>G (p.Gln76Arg)	Neuronal ceroid lipofuscinosis 8 [RCV000050118]	likely pathogenic	8	1771281	1771281	Human	1	name , alternate_id
26905206	CV834527	single nucleotide variant	NM_018941.4(CLN8):c.206C>T (p.Thr69Met)	Inborn genetic diseases [RCV002418505]\|Neuronal ceroid lipofuscinosis 8 [RCV001273352]\|Neuronal ceroid lipofuscinosis [RCV001057734]	uncertain significance	8	1771260	1771260	Human	3	name , alternate_id
26899083	CV834528	single nucleotide variant	NM_018941.4(CLN8):c.274C>G (p.His92Asp)	Neuronal ceroid lipofuscinosis [RCV001034870]	uncertain significance	8	1771328	1771328	Human	1	name
26904975	CV834529	single nucleotide variant	NM_018941.4(CLN8):c.290G>T (p.Arg97Leu)	Neuronal ceroid lipofuscinosis [RCV001056654]	uncertain significance	8	1771344	1771344	Human	1	name
38456449	CV925136	single nucleotide variant	NM_018941.4(CLN8):c.280G>C (p.Asp94His)	Neuronal ceroid lipofuscinosis 8 [RCV001828725]\|Neuronal ceroid lipofuscinosis [RCV001217389]\|not provided [RCV004774314]	uncertain significance	8	1771334	1771334	Human	2	name , alternate_id
38472074	CV934230	single nucleotide variant	NM_018941.4(CLN8):c.289C>T (p.Arg97Cys)	Neuronal ceroid lipofuscinosis 8 [RCV001833864]\|Neuronal ceroid lipofuscinosis [RCV001213157]	uncertain significance	8	1771343	1771343	Human	2	name , alternate_id
38468534	CV955380	single nucleotide variant	NM_018941.4(CLN8):c.112G>T (p.Val38Phe)	Neuronal ceroid lipofuscinosis 8 [RCV001829958]\|Neuronal ceroid lipofuscinosis [RCV001245528]\|not provided [RCV003442810]	uncertain significance	8	1771166	1771166	Human	2	name , alternate_id
38468142	CV955381	single nucleotide variant	NM_018941.4(CLN8):c.280G>A (p.Asp94Asn)	Inborn genetic diseases [RCV004609705]\|Neuronal ceroid lipofuscinosis 8 [RCV001279441]\|Neuronal ceroid lipofuscinosis [RCV001244434]	uncertain significance	8	1771334	1771334	Human	3	name , alternate_id
40906114	CV978456	single nucleotide variant	NM_018941.4(CLN8):c.160C>T (p.Arg54Cys)	Inborn genetic diseases [RCV004978232]\|Neuronal ceroid lipofuscinosis 8 [RCV001279440]\|Neuronal ceroid lipofuscinosis [RCV002537848]	uncertain significance	8	1771214	1771214	Human	3	name , alternate_id
126734989	CV992713	single nucleotide variant	NM_018941.4(CLN8):c.238G>A (p.Ala80Thr)	Inborn genetic diseases [RCV002539555]\|Neuronal ceroid lipofuscinosis 8 [RCV001830209]\|Neuronal ceroid lipofuscinosis [RCV001304534]	uncertain significance	8	1771292	1771292	Human	3	name , alternate_id
126758937	CV992717	deletion	NM_018941.4(CLN8):c.827del (p.Gly276fs)	Neuronal ceroid lipofuscinosis [RCV001308873]	uncertain significance	8	1780532	1780532	Human	1	name
8642836	CV101820	single nucleotide variant	NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)	Central core myopathy [RCV001258280]\|Inborn genetic diseases [RCV002311692]\|Neuronal ceroid lipofuscinosis 8 [RCV000671702]\|Neuronal ceroid lipofuscinosis [RCV000226970]\|not provided [RCV000224571]\|not specified [RCV000116763]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	8	1780391	1780391	Human	4	name , alternate_id
126915305	CV1045433	single nucleotide variant	NM_018941.4(CLN8):c.455A>G (p.Asn152Ser)	Inborn genetic diseases [RCV002341751]\|Neuronal ceroid lipofuscinosis [RCV001359907]\|not provided [RCV001549577]	likely benign\|uncertain significance	8	1771509	1771509	Human	2	name
126915190	CV1045434	single nucleotide variant	NM_018941.4(CLN8):c.845G>C (p.Arg282Pro)	Neuronal ceroid lipofuscinosis [RCV001359845]	uncertain significance	8	1780551	1780551	Human	1	name
8574330	CV106601	single nucleotide variant	NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)	Neuronal ceroid lipofuscinosis 8 [RCV000087102]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV005042202]\|Neuronal ceroid lipofuscinosis [RCV000988030]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	8	1780498	1780498	Human	3	name , alternate_id
127303342	CV1155939	single nucleotide variant	NM_018941.4(CLN8):c.639G>T (p.Trp213Cys)	Neuronal ceroid lipofuscinosis [RCV001515437]	benign	8	1780345	1780345	Human	1	name
150551526	CV1292769	single nucleotide variant	NM_018941.4(CLN8):c.381C>G (p.Ile127Met)	not provided [RCV001754377]	uncertain significance	8	1771435	1771435	Human		name
150542578	CV1302642	single nucleotide variant	NM_018941.4(CLN8):c.348T>A (p.Phe116Leu)	not provided [RCV001761332]	uncertain significance	8	1771402	1771402	Human		name
151349494	CV1324393	single nucleotide variant	NM_018941.4(CLN8):c.570G>T (p.Trp190Cys)	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV001808838]\|not provided [RCV004762185]	uncertain significance	8	1780276	1780276	Human	1	name
151355695	CV1326827	single nucleotide variant	NM_018941.4(CLN8):c.321C>G (p.Ile107Met)	not provided [RCV001822037]	uncertain significance	8	1771375	1771375	Human		name
151767778	CV1341624	single nucleotide variant	NM_018941.4(CLN8):c.374A>T (p.Asn125Ile)	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV002482456]\|Neuronal ceroid lipofuscinosis [RCV001874142]	uncertain significance	8	1771428	1771428	Human	2	name , alternate_id
151752625	CV1363569	single nucleotide variant	NM_018941.4(CLN8):c.335G>T (p.Gly112Val)	Neuronal ceroid lipofuscinosis [RCV001872415]	uncertain significance	8	1771389	1771389	Human	1	name
151862528	CV1365099	single nucleotide variant	NM_018941.4(CLN8):c.851A>C (p.Lys284Thr)	Neuronal ceroid lipofuscinosis [RCV002017932]	uncertain significance	8	1780557	1780557	Human	1	name
151804981	CV1369047	single nucleotide variant	NM_018941.4(CLN8):c.809C>T (p.Ala270Val)	Neuronal ceroid lipofuscinosis [RCV001991293]	uncertain significance	8	1780515	1780515	Human	1	name
151835951	CV1374918	single nucleotide variant	NM_018941.4(CLN8):c.635G>A (p.Trp212Ter)	Neuronal ceroid lipofuscinosis [RCV001920978]	pathogenic	8	1780341	1780341	Human	1	name
151833796	CV1384707	single nucleotide variant	NM_018941.4(CLN8):c.389C>T (p.Thr130Ile)	Neuronal ceroid lipofuscinosis [RCV001955942]	uncertain significance	8	1771443	1771443	Human	1	name
151828312	CV1400668	single nucleotide variant	NM_018941.4(CLN8):c.732C>G (p.Ile244Met)	Neuronal ceroid lipofuscinosis [RCV001976395]	uncertain significance	8	1780438	1780438	Human	1	name
151769962	CV1410724	single nucleotide variant	NM_018941.4(CLN8):c.775A>G (p.Asn259Asp)	Inborn genetic diseases [RCV005321041]\|Neuronal ceroid lipofuscinosis [RCV001971081]	uncertain significance	8	1780481	1780481	Human	2	name
151729371	CV1416518	single nucleotide variant	NM_018941.4(CLN8):c.392T>G (p.Phe131Cys)	Neuronal ceroid lipofuscinosis [RCV002004611]\|not provided [RCV002261429]	uncertain significance	8	1771446	1771446	Human	1	name
151734915	CV1435401	single nucleotide variant	NM_018941.4(CLN8):c.844C>T (p.Arg282Trp)	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV005361851]\|Neuronal ceroid lipofuscinosis [RCV001946456]	uncertain significance	8	1780550	1780550	Human	2	name , alternate_id
151713116	CV1441292	single nucleotide variant	NM_018941.4(CLN8):c.312G>T (p.Trp104Cys)	Neuronal ceroid lipofuscinosis [RCV001964685]	uncertain significance	8	1771366	1771366	Human	1	name
151885406	CV1444919	single nucleotide variant	NM_018941.4(CLN8):c.539T>A (p.Leu180Ter)	Neuronal ceroid lipofuscinosis [RCV001941941]	pathogenic	8	1771593	1771593	Human	1	name
151818694	CV1453663	single nucleotide variant	NM_018941.4(CLN8):c.856C>T (p.Pro286Ser)	Neuronal ceroid lipofuscinosis [RCV001900666]\|not provided [RCV003146294]	uncertain significance	8	1780562	1780562	Human	1	name
151753070	CV1457518	single nucleotide variant	NM_018941.4(CLN8):c.706G>A (p.Val236Ile)	Neuronal ceroid lipofuscinosis [RCV001913183]	uncertain significance	8	1780412	1780412	Human	1	name
151759918	CV1459342	single nucleotide variant	NM_018941.4(CLN8):c.680A>T (p.Tyr227Phe)	Neuronal ceroid lipofuscinosis [RCV002044152]	uncertain significance	8	1780386	1780386	Human	1	name
151797671	CV1467775	single nucleotide variant	NM_018941.4(CLN8):c.358G>T (p.Ala120Ser)	Neuronal ceroid lipofuscinosis [RCV001952625]	uncertain significance	8	1771412	1771412	Human	1	name
151835037	CV1474620	single nucleotide variant	NM_018941.4(CLN8):c.763C>G (p.Gln255Glu)	Neuronal ceroid lipofuscinosis [RCV001920880]	uncertain significance	8	1780469	1780469	Human	1	name
151815908	CV1475847	single nucleotide variant	NM_018941.4(CLN8):c.452T>C (p.Val151Ala)	Neuronal ceroid lipofuscinosis [RCV001992283]	uncertain significance	8	1771506	1771506	Human	1	name
151864489	CV1477278	single nucleotide variant	NM_018941.4(CLN8):c.427T>G (p.Phe143Val)	Neuronal ceroid lipofuscinosis [RCV001938990]	uncertain significance	8	1771481	1771481	Human	1	name
151775157	CV1478528	single nucleotide variant	NM_018941.4(CLN8):c.583T>A (p.Trp195Arg)	Neuronal ceroid lipofuscinosis [RCV002045620]	uncertain significance	8	1780289	1780289	Human	1	name
151728337	CV1486623	single nucleotide variant	NM_018941.4(CLN8):c.512C>G (p.Pro171Arg)	Neuronal ceroid lipofuscinosis 8 [RCV002283565]\|Neuronal ceroid lipofuscinosis [RCV001891981]	uncertain significance	8	1771566	1771566	Human	2	name , alternate_id
151721563	CV1489512	single nucleotide variant	NM_018941.4(CLN8):c.361G>A (p.Val121Ile)	Neuronal ceroid lipofuscinosis [RCV001891182]	uncertain significance	8	1771415	1771415	Human	1	name
151819348	CV1514001	single nucleotide variant	NM_018941.4(CLN8):c.364C>T (p.His122Tyr)	Neuronal ceroid lipofuscinosis [RCV001933988]	uncertain significance	8	1771418	1771418	Human	1	name
152978715	CV1671768	single nucleotide variant	NM_018941.4(CLN8):c.416A>G (p.His139Arg)	Neuronal ceroid lipofuscinosis 8 [RCV002227867]	uncertain significance	8	1771470	1771470	Human	1	name , alternate_id
152980375	CV1678579	single nucleotide variant	NM_018941.4(CLN8):c.861G>C (p.Ter287Tyr)	not specified [RCV002247087]	uncertain significance	8	1780567	1780567	Human		name
155749439	CV1773828	single nucleotide variant	NM_018941.4(CLN8):c.299A>G (p.Gln100Arg)	Neuronal ceroid lipofuscinosis [RCV002304652]	uncertain significance	8	1771353	1771353	Human	1	name
155749231	CV1777919	single nucleotide variant	NM_018941.4(CLN8):c.518C>T (p.Thr173Ile)	Neuronal ceroid lipofuscinosis [RCV002304436]	uncertain significance	8	1771572	1771572	Human	1	name
8557000	CV17842	single nucleotide variant	NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)	Neuronal ceroid lipofuscinosis 8 [RCV000002937]\|Neuronal ceroid lipofuscinosis [RCV001851598]\|not provided [RCV001090293]	pathogenic	8	1780495	1780495	Human	2	name , alternate_id
8557001	CV17843	single nucleotide variant	NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)	CLN8-related disorder [RCV002291264]\|Neuronal ceroid lipofuscinosis 8 [RCV000002938]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV000763180]\|Neuronal ceroid lipofuscinosis [RCV000805014]\|not provided [RCV002225256]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	8	1780316	1780316	Human	3	name , trait , alternate_id
10041480	CV186761	single nucleotide variant	NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)	Neuronal ceroid lipofuscinosis 8 [RCV000169279]\|Neuronal ceroid lipofuscinosis [RCV003532006]\|not provided [RCV000187126]	pathogenic\|likely pathogenic	8	1780415	1780415	Human	2	name , alternate_id
156305205	CV1868103	single nucleotide variant	NM_018941.4(CLN8):c.509C>G (p.Thr170Arg)	Neuronal ceroid lipofuscinosis [RCV003062152]	uncertain significance	8	1771563	1771563	Human	1	name
156006446	CV1870418	single nucleotide variant	NM_018941.4(CLN8):c.457C>G (p.Leu153Val)	Neuronal ceroid lipofuscinosis [RCV003076846]	uncertain significance	8	1771511	1771511	Human	1	name
156403848	CV1871924	single nucleotide variant	NM_018941.4(CLN8):c.385C>G (p.Arg129Gly)	Neuronal ceroid lipofuscinosis [RCV003052699]	uncertain significance	8	1771439	1771439	Human	1	name
156117583	CV1877469	single nucleotide variant	NM_018941.4(CLN8):c.694A>C (p.Thr232Pro)	Neuronal ceroid lipofuscinosis [RCV003081300]	uncertain significance	8	1780400	1780400	Human	1	name
156022167	CV1882429	single nucleotide variant	NM_018941.4(CLN8):c.631A>T (p.Met211Leu)	Neuronal ceroid lipofuscinosis [RCV003077675]	uncertain significance	8	1780337	1780337	Human	1	name
156410764	CV1882739	single nucleotide variant	NM_018941.4(CLN8):c.578A>G (p.Asn193Ser)	Neuronal ceroid lipofuscinosis [RCV003072200]\|not provided [RCV004700933]	uncertain significance	8	1780284	1780284	Human	1	name
156196752	CV1889745	single nucleotide variant	NM_018941.4(CLN8):c.835C>T (p.Gln279Ter)	Neuronal ceroid lipofuscinosis [RCV003084064]	uncertain significance	8	1780541	1780541	Human	1	name
156300368	CV1890856	single nucleotide variant	NM_018941.4(CLN8):c.782T>C (p.Val261Ala)	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV003883879]\|Neuronal ceroid lipofuscinosis [RCV003087898]	likely pathogenic\|uncertain significance	8	1780488	1780488	Human	2	name , alternate_id
156092742	CV1895689	single nucleotide variant	NM_018941.4(CLN8):c.745T>C (p.Trp249Arg)	Neuronal ceroid lipofuscinosis [RCV003080286]	uncertain significance	8	1780451	1780451	Human	1	name
156413023	CV1904693	single nucleotide variant	NM_018941.4(CLN8):c.743A>G (p.Tyr248Cys)	Neuronal ceroid lipofuscinosis [RCV002588025]	uncertain significance	8	1780449	1780449	Human	1	name
156334379	CV1905868	single nucleotide variant	NM_018941.4(CLN8):c.630C>G (p.His210Gln)	Neuronal ceroid lipofuscinosis [RCV003089985]\|not provided [RCV004695307]	uncertain significance	8	1780336	1780336	Human	1	name
155944429	CV1911186	single nucleotide variant	NM_018941.4(CLN8):c.650G>C (p.Trp217Ser)	Neuronal ceroid lipofuscinosis [RCV002615847]	uncertain significance	8	1780356	1780356	Human	1	name
156370167	CV1920112	single nucleotide variant	NM_018941.4(CLN8):c.606C>G (p.His202Gln)	Neuronal ceroid lipofuscinosis [RCV002603109]	uncertain significance	8	1780312	1780312	Human	1	name
10050830	CV192505	single nucleotide variant	NM_018941.4(CLN8):c.385C>T (p.Arg129Trp)	Inborn genetic diseases [RCV002314612]\|Neuronal ceroid lipofuscinosis 8 [RCV001832003]\|Neuronal ceroid lipofuscinosis [RCV000550885]\|not provided [RCV000723994]	uncertain significance	8	1771439	1771439	Human	3	name , alternate_id
10050833	CV192508	single nucleotide variant	NM_018941.4(CLN8):c.527C>T (p.Ser176Phe)	not provided [RCV000175910]	uncertain significance	8	1771581	1771581	Human		name
156367743	CV1925772	single nucleotide variant	NM_018941.4(CLN8):c.636G>C (p.Trp212Cys)	Neuronal ceroid lipofuscinosis [RCV002633139]\|not provided [RCV005425059]	uncertain significance	8	1780342	1780342	Human	1	name
10051597	CV193654	single nucleotide variant	NM_018941.4(CLN8):c.806A>T (p.Glu269Val)	CLN8-related disorder [RCV004537428]\|Inborn genetic diseases [RCV002408767]\|Neuronal ceroid lipofuscinosis 8 [RCV000670572]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV000515342]\|Neuronal ceroid lipofuscinosis [RCV001084070]\|See cases [RCV0022 ... (more) 52020]\|not provided [RCV000723601]\|not specified [RCV000187131]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	1780512	1780512	Human	4	name , trait , alternate_id
156438543	CV1947154	single nucleotide variant	NM_018941.4(CLN8):c.797C>T (p.Ala266Val)	Neuronal ceroid lipofuscinosis [RCV003108487]	uncertain significance	8	1780503	1780503	Human	1	name
156326840	CV1956242	single nucleotide variant	NM_018941.4(CLN8):c.613A>G (p.Met205Val)	Neuronal ceroid lipofuscinosis [RCV002579773]	uncertain significance	8	1780319	1780319	Human	1	name
156283989	CV1964501	single nucleotide variant	NM_018941.4(CLN8):c.544G>A (p.Ala182Thr)	Neuronal ceroid lipofuscinosis [RCV002577571]	uncertain significance	8	1780250	1780250	Human	1	name
156413191	CV1968980	single nucleotide variant	NM_018941.4(CLN8):c.830A>G (p.Asn277Ser)	Neuronal ceroid lipofuscinosis [RCV002608767]	uncertain significance	8	1780536	1780536	Human	1	name
156167888	CV1971607	single nucleotide variant	NM_018941.4(CLN8):c.610C>G (p.Arg204Gly)	Neuronal ceroid lipofuscinosis [RCV002594682]	likely pathogenic	8	1780316	1780316	Human	1	name
156047214	CV1978095	single nucleotide variant	NM_018941.4(CLN8):c.690T>G (p.His230Gln)	Neuronal ceroid lipofuscinosis [RCV002590538]	uncertain significance	8	1780396	1780396	Human	1	name
155966350	CV1978100	single nucleotide variant	NM_018941.4(CLN8):c.344G>C (p.Cys115Ser)	Neuronal ceroid lipofuscinosis [RCV002616973]	uncertain significance	8	1771398	1771398	Human	1	name
156117420	CV2015754	single nucleotide variant	NM_018941.4(CLN8):c.766C>T (p.Gln256Ter)	Neuronal ceroid lipofuscinosis [RCV002695903]	pathogenic	8	1780472	1780472	Human	1	name
10397392	CV202204	single nucleotide variant	NM_018941.4(CLN8):c.305G>T (p.Trp102Leu)	Neuronal ceroid lipofuscinosis [RCV002516986]\|not provided [RCV000187140]	uncertain significance	8	1771359	1771359	Human	1	name
10395816	CV202205	single nucleotide variant	NM_018941.4(CLN8):c.374A>C (p.Asn125Thr)	not provided [RCV000187141]	uncertain significance	8	1771428	1771428	Human		name
10395817	CV202206	single nucleotide variant	NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)	Inborn genetic diseases [RCV002314707]\|Intellectual disability [RCV001251946]\|Neuronal ceroid lipofuscinosis 8 [RCV000677331]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV003224205]\|Neuronal ceroid lipofuscinosis [RCV001080578]\|not provided [RCV000656837]\|not specified [RCV00018714 ... (more) 2]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	1771428	1771428	Human	6	name , alternate_id
10395818	CV202207	single nucleotide variant	NM_018941.4(CLN8):c.406G>T (p.Val136Phe)	Inborn genetic diseases [RCV002321751]\|Neuronal ceroid lipofuscinosis 8 [RCV001273353]\|Neuronal ceroid lipofuscinosis [RCV000556468]\|not provided [RCV000187143]	uncertain significance	8	1771460	1771460	Human	3	name , alternate_id
10395819	CV202208	single nucleotide variant	NM_018941.4(CLN8):c.488C>T (p.Thr163Met)	Neuronal ceroid lipofuscinosis [RCV001052022]\|not provided [RCV000187144]	uncertain significance	8	1771542	1771542	Human	1	name
10395806	CV202209	single nucleotide variant	NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)	Inborn genetic diseases [RCV002336495]\|Neuronal ceroid lipofuscinosis 8 [RCV000665564]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV005042399]\|Neuronal ceroid lipofuscinosis [RCV000503130]\|not provided [RCV000187127]	pathogenic\|likely pathogenic	8	1771553	1771553	Human	4	name , alternate_id
10395804	CV202212	single nucleotide variant	NM_018941.4(CLN8):c.556G>A (p.Glu186Lys)	Neuronal ceroid lipofuscinosis 8 [RCV001827996]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV002485265]\|Neuronal ceroid lipofuscinosis [RCV001247394]\|not provided [RCV000187123]	uncertain significance	8	1780262	1780262	Human	3	name , alternate_id
10395805	CV202213	single nucleotide variant	NM_018941.4(CLN8):c.599T>C (p.Met200Thr)	Neuronal ceroid lipofuscinosis 8 [RCV001273354]\|Neuronal ceroid lipofuscinosis [RCV001059065]\|not provided [RCV000187124]\|not specified [RCV003226243]	uncertain significance	8	1780305	1780305	Human	2	name , alternate_id
10397390	CV202214	single nucleotide variant	NM_018941.4(CLN8):c.623C>A (p.Thr208Asn)	not provided [RCV000187125]	uncertain significance	8	1780329	1780329	Human		name
10395807	CV202215	single nucleotide variant	NM_018941.4(CLN8):c.725C>T (p.Thr242Met)	CLN8-related disorder [RCV004537573]\|Neuronal ceroid lipofuscinosis [RCV000458992]\|not provided [RCV001704979]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	1780431	1780431	Human	2	name , trait , alternate_id
10395820	CV202216	single nucleotide variant	NM_018941.4(CLN8):c.776A>G (p.Asn259Ser)	Inborn genetic diseases [RCV002513993]\|Neuronal ceroid lipofuscinosis 8 [RCV001833114]\|Neuronal ceroid lipofuscinosis [RCV000706746]\|not provided [RCV000187145]	likely benign\|uncertain significance	8	1780482	1780482	Human	3	name , alternate_id
10395808	CV202217	single nucleotide variant	NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)	Inborn genetic diseases [RCV002408830]\|Neuronal ceroid lipofuscinosis 8 [RCV001272624]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV000768188]\|Neuronal ceroid lipofuscinosis [RCV001080174]\|not provided [RCV000187129]\|not specified [RCV002247602]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	1780485	1780485	Human	4	name , alternate_id
10395809	CV202218	single nucleotide variant	NM_018941.4(CLN8):c.806A>G (p.Glu269Gly)	Neuronal ceroid lipofuscinosis 8 [RCV001835713]\|Neuronal ceroid lipofuscinosis [RCV000809874]\|not provided [RCV000187130]	uncertain significance	8	1780512	1780512	Human	2	name , alternate_id
10395810	CV202219	single nucleotide variant	NM_018941.4(CLN8):c.837G>T (p.Gln279His)	Neuronal ceroid lipofuscinosis [RCV001037746]\|not provided [RCV000187132]	uncertain significance	8	1780543	1780543	Human	1	name
156065729	CV2022316	single nucleotide variant	NM_018941.4(CLN8):c.820C>T (p.Pro274Ser)	Neuronal ceroid lipofuscinosis [RCV002760160]	uncertain significance	8	1780526	1780526	Human	1	name
156048379	CV2027141	single nucleotide variant	NM_018941.4(CLN8):c.632T>C (p.Met211Thr)	Neuronal ceroid lipofuscinosis [RCV002736427]	uncertain significance	8	1780338	1780338	Human	1	name
155906802	CV2027647	single nucleotide variant	NM_018941.4(CLN8):c.706G>C (p.Val236Leu)	Neuronal ceroid lipofuscinosis [RCV002726520]	uncertain significance	8	1780412	1780412	Human	1	name
155987448	CV2030558	single nucleotide variant	NM_018941.4(CLN8):c.796G>T (p.Ala266Ser)	Neuronal ceroid lipofuscinosis [RCV002755601]	uncertain significance	8	1780502	1780502	Human	1	name
156015975	CV2061620	single nucleotide variant	NM_018941.4(CLN8):c.686C>T (p.Pro229Leu)	Neuronal ceroid lipofuscinosis [RCV002820375]	uncertain significance	8	1780392	1780392	Human	1	name
156016333	CV2061640	single nucleotide variant	NM_018941.4(CLN8):c.703C>T (p.Leu235Phe)	Neuronal ceroid lipofuscinosis [RCV002820392]	uncertain significance	8	1780409	1780409	Human	1	name
155970470	CV2062436	single nucleotide variant	NM_018941.4(CLN8):c.579C>A (p.Asn193Lys)	Neuronal ceroid lipofuscinosis [RCV002842053]	uncertain significance	8	1780285	1780285	Human	1	name
155971787	CV2062518	single nucleotide variant	NM_018941.4(CLN8):c.801G>C (p.Gln267His)	Neuronal ceroid lipofuscinosis [RCV002842113]	uncertain significance	8	1780507	1780507	Human	1	name
10405442	CV207537	single nucleotide variant	NM_018941.4(CLN8):c.470A>G (p.His157Arg)	Neuronal ceroid lipofuscinosis 8 [RCV000192707]\|Neuronal ceroid lipofuscinosis [RCV002307439]\|not provided [RCV001580081]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	8	1771524	1771524	Human	2	name , alternate_id
156332567	CV2091062	single nucleotide variant	NM_018941.4(CLN8):c.446G>A (p.Cys149Tyr)	Neuronal ceroid lipofuscinosis [RCV002900016]\|not provided [RCV003232704]	uncertain significance	8	1771500	1771500	Human	1	name
155993376	CV2095606	single nucleotide variant	NM_018941.4(CLN8):c.380T>G (p.Ile127Ser)	Neuronal ceroid lipofuscinosis [RCV002908267]	uncertain significance	8	1771434	1771434	Human	1	name
156322901	CV2101179	single nucleotide variant	NM_018941.4(CLN8):c.353A>C (p.Asn118Thr)	Neuronal ceroid lipofuscinosis [RCV002899425]	uncertain significance	8	1771407	1771407	Human	1	name
156271057	CV2103008	single nucleotide variant	NM_018941.4(CLN8):c.639G>C (p.Trp213Cys)	Neuronal ceroid lipofuscinosis [RCV002895924]	uncertain significance	8	1780345	1780345	Human	1	name
156270976	CV2136523	single nucleotide variant	NM_018941.4(CLN8):c.359C>T (p.Ala120Val)	Neuronal ceroid lipofuscinosis [RCV003009263]	uncertain significance	8	1771413	1771413	Human	1	name
156021676	CV2142766	single nucleotide variant	NM_018941.4(CLN8):c.731T>C (p.Ile244Thr)	Neuronal ceroid lipofuscinosis [RCV002998705]	uncertain significance	8	1780437	1780437	Human	1	name
155945368	CV2154701	single nucleotide variant	NM_018941.4(CLN8):c.709G>C (p.Gly237Arg)	Neuronal ceroid lipofuscinosis [RCV003014527]	likely pathogenic	8	1780415	1780415	Human	1	name
156046016	CV2157814	single nucleotide variant	NM_018941.4(CLN8):c.322A>G (p.Thr108Ala)	Neuronal ceroid lipofuscinosis [RCV003019234]	uncertain significance	8	1771376	1771376	Human	1	name
156333461	CV2186602	single nucleotide variant	NM_018941.4(CLN8):c.573G>C (p.Lys191Asn)	Neuronal ceroid lipofuscinosis [RCV003063829]	uncertain significance	8	1780279	1780279	Human	1	name
11347088	CV240336	single nucleotide variant	NM_018941.4(CLN8):c.788G>A (p.Trp263Ter)	Neuronal ceroid lipofuscinosis [RCV000230938]	pathogenic\|uncertain significance	8	1780494	1780494	Human	1	name
401738556	CV2711973	single nucleotide variant	NM_018941.4(CLN8):c.353A>G (p.Asn118Ser)	Inborn genetic diseases [RCV003291912]	uncertain significance	8	1771407	1771407	Human	1	name
401783808	CV2720453	single nucleotide variant	NM_018941.4(CLN8):c.801G>T (p.Gln267His)	Inborn genetic diseases [RCV003309955]	uncertain significance	8	1780507	1780507	Human	1	name
401919575	CV2794895	single nucleotide variant	NM_018941.4(CLN8):c.447C>A (p.Cys149Ter)	Neuronal ceroid lipofuscinosis 8 [RCV003388644]	pathogenic	8	1771501	1771501	Human	1	name , alternate_id
401924371	CV2795145	single nucleotide variant	NM_018941.4(CLN8):c.607T>C (p.Cys203Arg)	Neuronal ceroid lipofuscinosis 8 [RCV003388919]	likely pathogenic	8	1780313	1780313	Human	1	name , alternate_id
404989452	CV2849832	single nucleotide variant	NM_018941.4(CLN8):c.601T>A (p.Phe201Ile)	Neuronal ceroid lipofuscinosis 8 [RCV004364875]\|not provided [RCV003490574]	uncertain significance	8	1780307	1780307	Human	1	name , alternate_id
405073561	CV2857084	single nucleotide variant	NM_018941.4(CLN8):c.530G>A (p.Trp177Ter)	Neuronal ceroid lipofuscinosis [RCV003533876]	pathogenic	8	1771584	1771584	Human	1	name
405058857	CV2920779	single nucleotide variant	NM_018941.4(CLN8):c.627C>G (p.Tyr209Ter)	Neuronal ceroid lipofuscinosis [RCV003531840]	pathogenic	8	1780333	1780333	Human	1	name
405002949	CV2989177	single nucleotide variant	NM_018941.4(CLN8):c.377T>A (p.Leu126Ter)	Neuronal ceroid lipofuscinosis [RCV003648286]	pathogenic	8	1771431	1771431	Human	1	name
405852816	CV3393242	single nucleotide variant	NM_018941.4(CLN8):c.757A>G (p.Lys253Glu)	Seizure [RCV004545972]	likely pathogenic	8	1780463	1780463	Human	2	name
407476054	CV3494836	single nucleotide variant	NM_018941.4(CLN8):c.508A>T (p.Thr170Ser)	not specified [RCV004690737]	uncertain significance	8	1771562	1771562	Human		name
597647308	CV3656837	single nucleotide variant	NM_018941.4(CLN8):c.752A>G (p.His251Arg)	Inborn genetic diseases [RCV004973980]	uncertain significance	8	1780458	1780458	Human	1	name
597735706	CV3722624	single nucleotide variant	NM_018941.4(CLN8):c.609C>A (p.Cys203Ter)	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV005051599]	likely pathogenic	8	1780315	1780315	Human	1	name , alternate_id
597833650	CV3735658	single nucleotide variant	NM_018941.4(CLN8):c.784G>A (p.Asp262Asn)	not provided [RCV005063520]	uncertain significance	8	1780490	1780490	Human		name
597900459	CV3771227	single nucleotide variant	NM_018941.4(CLN8):c.805G>A (p.Glu269Lys)	Neuronal ceroid lipofuscinosis [RCV005112192]	uncertain significance	8	1780511	1780511	Human	1	name
597887966	CV3839144	single nucleotide variant	NM_018941.4(CLN8):c.551G>A (p.Trp184Ter)	Neuronal ceroid lipofuscinosis [RCV005179229]	pathogenic	8	1780257	1780257	Human	1	name
597891574	CV3856600	single nucleotide variant	NM_018941.4(CLN8):c.620T>G (p.Leu207Arg)	Neuronal ceroid lipofuscinosis [RCV005200666]\|not specified [RCV005407411]	likely pathogenic\|uncertain significance	8	1780326	1780326	Human	1	name
12901936	CV407354	single nucleotide variant	NM_018941.4(CLN8):c.386G>A (p.Arg129Gln)	Neuronal ceroid lipofuscinosis 8 [RCV001835816]\|Neuronal ceroid lipofuscinosis [RCV000698635]\|not provided [RCV000485902]	uncertain significance	8	1771440	1771440	Human	2	name , alternate_id
12898534	CV407355	single nucleotide variant	NM_018941.4(CLN8):c.399G>T (p.Leu133Phe)	Neuronal ceroid lipofuscinosis 8 [RCV001833609]\|Neuronal ceroid lipofuscinosis [RCV002525804]\|not provided [RCV000478132]	uncertain significance	8	1771453	1771453	Human	2	name , alternate_id
12895094	CV407356	single nucleotide variant	NM_018941.4(CLN8):c.464C>A (p.Ala155Asp)	not provided [RCV000485243]	likely pathogenic	8	1771518	1771518	Human		name
12899136	CV407357	single nucleotide variant	NM_018941.4(CLN8):c.796G>A (p.Ala266Thr)	Inborn genetic diseases [RCV003278837]\|Neuronal ceroid lipofuscinosis 8 [RCV001273356]\|Neuronal ceroid lipofuscinosis [RCV001851272]\|not provided [RCV000479521]	likely benign\|uncertain significance	8	1780502	1780502	Human	3	name , alternate_id
12902409	CV407358	single nucleotide variant	NM_018941.4(CLN8):c.845G>A (p.Arg282Gln)	Neuronal ceroid lipofuscinosis 8 [RCV001273358]\|Neuronal ceroid lipofuscinosis [RCV000798347]\|not provided [RCV000487024]	uncertain significance	8	1780551	1780551	Human	2	name , alternate_id
13487641	CV444259	single nucleotide variant	NM_018941.4(CLN8):c.358G>A (p.Ala120Thr)	not provided [RCV000523300]	uncertain significance	8	1771412	1771412	Human		name
13488521	CV444260	single nucleotide variant	NM_018941.4(CLN8):c.545C>T (p.Ala182Val)	Inborn genetic diseases [RCV002527616]\|Neuronal ceroid lipofuscinosis 8 [RCV001829498]\|Neuronal ceroid lipofuscinosis [RCV000691963]\|not provided [RCV000523588]\|not specified [RCV003387869]	uncertain significance	8	1780251	1780251	Human	3	name , alternate_id
13472975	CV444261	single nucleotide variant	NM_018941.4(CLN8):c.619C>G (p.Leu207Val)	Inborn genetic diseases [RCV002367739]\|Neuronal ceroid lipofuscinosis 8 [RCV001834700]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV004799215]\|Neuronal ceroid lipofuscinosis [RCV000550094]\|not provided [RCV000519268]	uncertain significance	8	1780325	1780325	Human	4	name , alternate_id
13475531	CV458349	single nucleotide variant	NM_018941.4(CLN8):c.721C>G (p.Leu241Val)	Neuronal ceroid lipofuscinosis 8 [RCV001829565]\|Neuronal ceroid lipofuscinosis [RCV000548756]	uncertain significance	8	1780427	1780427	Human	2	name , alternate_id
13497880	CV458656	single nucleotide variant	NM_018941.4(CLN8):c.823G>C (p.Glu275Gln)	Neuronal ceroid lipofuscinosis 8 [RCV001273357]\|Neuronal ceroid lipofuscinosis [RCV000538894]	uncertain significance	8	1780529	1780529	Human	2	name , alternate_id
13615331	CV523713	single nucleotide variant	NM_018941.4(CLN8):c.697C>G (p.Leu233Val)	Inborn genetic diseases [RCV003372777]\|Neuronal ceroid lipofuscinosis 8 [RCV001273355]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV002492959]\|Neuronal ceroid lipofuscinosis [RCV000632700]\|not provided [RCV003313116]	uncertain significance	8	1780403	1780403	Human	4	name , alternate_id
13615323	CV523977	single nucleotide variant	NM_018941.4(CLN8):c.614T>C (p.Met205Thr)	Neuronal ceroid lipofuscinosis 8 [RCV001270093]\|Neuronal ceroid lipofuscinosis [RCV000632692]\|not provided [RCV000728988]	uncertain significance	8	1780320	1780320	Human	2	name , alternate_id
13705796	CV536746	single nucleotide variant	NM_018941.4(CLN8):c.339C>G (p.Phe113Leu)	not provided [RCV000658366]	uncertain significance	8	1771393	1771393	Human		name
13705405	CV536747	single nucleotide variant	NM_018941.4(CLN8):c.485C>A (p.Thr162Asn)	not provided [RCV000657927]	uncertain significance	8	1771539	1771539	Human		name
13786106	CV544403	single nucleotide variant	NM_018941.4(CLN8):c.681T>A (p.Tyr227Ter)	Neuronal ceroid lipofuscinosis 8 [RCV000672582]	uncertain significance	8	1780387	1780387	Human	1	name , alternate_id
13790153	CV544404	single nucleotide variant	NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)	Neuronal ceroid lipofuscinosis 8 [RCV000674890]\|Neuronal ceroid lipofuscinosis [RCV002544675]	pathogenic\|likely pathogenic	8	1780469	1780469	Human	2	name , alternate_id
13789492	CV544698	single nucleotide variant	NM_018941.4(CLN8):c.306G>A (p.Trp102Ter)	Neuronal ceroid lipofuscinosis 8 [RCV000666024]	likely pathogenic	8	1771360	1771360	Human	1	name , alternate_id
13788963	CV544700	single nucleotide variant	NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)	Neuronal ceroid lipofuscinosis 8 [RCV000674248]\|Neuronal ceroid lipofuscinosis [RCV001381243]	pathogenic\|likely pathogenic	8	1771452	1771452	Human	2	name , alternate_id
13785875	CV544749	single nucleotide variant	NM_018941.4(CLN8):c.312G>A (p.Trp104Ter)	Neuronal ceroid lipofuscinosis 8 [RCV000672329]\|Neuronal ceroid lipofuscinosis [RCV001855577]	pathogenic\|likely pathogenic	8	1771366	1771366	Human	2	name , alternate_id
13788407	CV544753	single nucleotide variant	NM_018941.4(CLN8):c.611G>A (p.Arg204His)	Neuronal ceroid lipofuscinosis 8 [RCV000673946]\|Neuronal ceroid lipofuscinosis [RCV001045975]	likely pathogenic\|uncertain significance	8	1780317	1780317	Human	2	name , alternate_id
13803079	CV564960	single nucleotide variant	NM_018941.4(CLN8):c.331A>G (p.Thr111Ala)	Neuronal ceroid lipofuscinosis 8 [RCV001825392]\|Neuronal ceroid lipofuscinosis [RCV000704924]	uncertain significance	8	1771385	1771385	Human	2	name , alternate_id
13802964	CV564961	single nucleotide variant	NM_018941.4(CLN8):c.832G>A (p.Gly278Arg)	Neuronal ceroid lipofuscinosis 8 [RCV001830520]\|Neuronal ceroid lipofuscinosis [RCV000694020]	uncertain significance	8	1780538	1780538	Human	2	name , alternate_id
13808959	CV577055	single nucleotide variant	NM_018941.4(CLN8):c.347T>C (p.Phe116Ser)	not provided [RCV000711265]	uncertain significance	8	1771401	1771401	Human		name
13830629	CV579571	single nucleotide variant	NM_018941.4(CLN8):c.700T>A (p.Phe234Ile)	Inborn genetic diseases [RCV002318223]	uncertain significance	8	1780406	1780406	Human	1	name
14723660	CV637016	single nucleotide variant	NM_018941.4(CLN8):c.471C>G (p.His157Gln)	Neuronal ceroid lipofuscinosis [RCV000798057]	uncertain significance	8	1771525	1771525	Human	1	name
14719404	CV637017	single nucleotide variant	NM_018941.4(CLN8):c.598A>T (p.Met200Leu)	Neuronal ceroid lipofuscinosis [RCV000812591]	uncertain significance	8	1780304	1780304	Human	1	name
14716451	CV637018	single nucleotide variant	NM_018941.4(CLN8):c.682C>G (p.Leu228Val)	Neuronal ceroid lipofuscinosis [RCV000811577]	uncertain significance	8	1780388	1780388	Human	1	name
8617434	CV71345	single nucleotide variant	NM_018941.4(CLN8):c.320T>G (p.Ile107Ser)	Neuronal ceroid lipofuscinosis 8 [RCV000050119]	likely pathogenic	8	1771374	1771374	Human	1	name , alternate_id
8617435	CV71346	single nucleotide variant	NM_018941.4(CLN8):c.415C>T (p.His139Tyr)	Neuronal ceroid lipofuscinosis 8 [RCV000050120]\|Neuronal ceroid lipofuscinosis [RCV002513703]	likely pathogenic\|uncertain significance	8	1771469	1771469	Human	2	name , alternate_id
8617436	CV71347	single nucleotide variant	NM_018941.4(CLN8):c.464C>T (p.Ala155Val)	Neuronal ceroid lipofuscinosis 8 [RCV000050121]	likely pathogenic	8	1771518	1771518	Human	1	name , alternate_id
8617438	CV71349	single nucleotide variant	NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)	Inborn genetic diseases [RCV002514269]\|Neuronal ceroid lipofuscinosis 8 [RCV000050123]\|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [RCV002483067]\|Neuronal ceroid lipofuscinosis [RCV001377678]	pathogenic\|likely pathogenic	8	1771527	1771527	Human	4	name , alternate_id
8617440	CV71351	single nucleotide variant	NM_018941.4(CLN8):c.509C>T (p.Thr170Met)	Neuronal ceroid lipofuscinosis 8 [RCV000050125]\|not provided [RCV001753470]\|not specified [RCV003387747]	likely pathogenic\|uncertain significance	8	1771563	1771563	Human	1	name , alternate_id
8617442	CV71353	single nucleotide variant	NM_018941.4(CLN8):c.581A>G (p.Gln194Arg)	Neuronal ceroid lipofuscinosis 8 [RCV000050127]	likely pathogenic	8	1780287	1780287	Human	1	name , alternate_id
8617443	CV71354	single nucleotide variant	NM_018941.4(CLN8):c.611G>T (p.Arg204Leu)	Neuronal ceroid lipofuscinosis 8 [RCV000050128]\|Neuronal ceroid lipofuscinosis [RCV000632701]\|not specified [RCV002222375]	likely pathogenic\|uncertain significance	8	1780317	1780317	Human	2	name , alternate_id
8617445	CV71356	single nucleotide variant	NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)	Neuronal ceroid lipofuscinosis 8 [RCV000050130]\|Neuronal ceroid lipofuscinosis [RCV001221743]\|not provided [RCV000711267]\|not specified [RCV001804787]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	8	1780367	1780367	Human	2	name , alternate_id
8617447	CV71358	single nucleotide variant	NM_018941.4(CLN8):c.766C>G (p.Gln256Glu)	Neuronal ceroid lipofuscinosis 8 [RCV000050132]	likely pathogenic	8	1780472	1780472	Human	1	name , alternate_id
21067546	CV790791	single nucleotide variant	NM_018941.4(CLN8):c.473A>C (p.Tyr158Ser)	Neuronal ceroid lipofuscinosis [RCV000988029]	likely pathogenic	8	1771527	1771527	Human	1	name
26900880	CV834530	single nucleotide variant	NM_018941.4(CLN8):c.303C>G (p.Asn101Lys)	Neuronal ceroid lipofuscinosis 8 [RCV001836074]\|Neuronal ceroid lipofuscinosis [RCV001040958]	uncertain significance	8	1771357	1771357	Human	2	name , alternate_id
26905030	CV834531	single nucleotide variant	NM_018941.4(CLN8):c.311G>A (p.Trp104Ter)	Neuronal ceroid lipofuscinosis [RCV001057047]	pathogenic	8	1771365	1771365	Human	1	name
26905548	CV834532	single nucleotide variant	NM_018941.4(CLN8):c.332C>T (p.Thr111Met)	Neuronal ceroid lipofuscinosis 8 [RCV001827373]\|Neuronal ceroid lipofuscinosis [RCV001058812]	uncertain significance	8	1771386	1771386	Human	2	name , alternate_id
26901928	CV834533	single nucleotide variant	NM_018941.4(CLN8):c.411C>G (p.Ile137Met)	Neuronal ceroid lipofuscinosis 8 [RCV001832430]\|Neuronal ceroid lipofuscinosis [RCV001045066]	uncertain significance	8	1771465	1771465	Human	2	name , alternate_id
26906023	CV834534	single nucleotide variant	NM_018941.4(CLN8):c.485C>G (p.Thr162Ser)	Neuronal ceroid lipofuscinosis [RCV001060693]\|not provided [RCV005411653]	uncertain significance	8	1771539	1771539	Human	1	name
26904509	CV834535	single nucleotide variant	NM_018941.4(CLN8):c.499G>A (p.Glu167Lys)	Neuronal ceroid lipofuscinosis [RCV001054575]	uncertain significance	8	1771553	1771553	Human	1	name
26904120	CV834536	single nucleotide variant	NM_018941.4(CLN8):c.523G>A (p.Val175Ile)	Neuronal ceroid lipofuscinosis 8 [RCV001832480]\|Neuronal ceroid lipofuscinosis [RCV001052230]\|not provided [RCV001772259]	likely benign\|uncertain significance	8	1771577	1771577	Human	2	name , alternate_id
26904124	CV834537	single nucleotide variant	NM_018941.4(CLN8):c.523G>C (p.Val175Leu)	Neuronal ceroid lipofuscinosis [RCV001052245]	uncertain significance	8	1771577	1771577	Human	1	name
26904783	CV834538	single nucleotide variant	NM_018941.4(CLN8):c.550T>G (p.Trp184Gly)	Neuronal ceroid lipofuscinosis [RCV001055695]	uncertain significance	8	1780256	1780256	Human	1	name
26900695	CV834539	single nucleotide variant	NM_018941.4(CLN8):c.560C>G (p.Ser187Cys)	Neuronal ceroid lipofuscinosis [RCV001040331]	uncertain significance	8	1780266	1780266	Human	1	name
26902358	CV834540	single nucleotide variant	NM_018941.4(CLN8):c.571A>C (p.Lys191Gln)	Neuronal ceroid lipofuscinosis [RCV001046748]	uncertain significance	8	1780277	1780277	Human	1	name
26899962	CV834541	single nucleotide variant	NM_018941.4(CLN8):c.586C>G (p.Leu196Val)	Neuronal ceroid lipofuscinosis [RCV001038038]	uncertain significance	8	1780292	1780292	Human	1	name
26905964	CV834542	single nucleotide variant	NM_018941.4(CLN8):c.598A>G (p.Met200Val)	Neuronal ceroid lipofuscinosis 8 [RCV001827381]\|Neuronal ceroid lipofuscinosis [RCV001060394]	uncertain significance	8	1780304	1780304	Human	2	name , alternate_id
38472401	CV925137	single nucleotide variant	NM_018941.4(CLN8):c.323C>T (p.Thr108Met)	Inborn genetic diseases [RCV002322040]\|Neuronal ceroid lipofuscinosis 8 [RCV001828711]\|Neuronal ceroid lipofuscinosis [RCV001214815]	uncertain significance	8	1771377	1771377	Human	3	name , alternate_id
38456540	CV925139	single nucleotide variant	NM_018941.4(CLN8):c.616G>T (p.Val206Phe)	Neuronal ceroid lipofuscinosis [RCV001217680]	uncertain significance	8	1780322	1780322	Human	1	name
38457702	CV925140	single nucleotide variant	NM_018941.4(CLN8):c.716C>T (p.Ala239Val)	Inborn genetic diseases [RCV004032412]\|Neuronal ceroid lipofuscinosis 8 [RCV001828763]\|Neuronal ceroid lipofuscinosis [RCV001221238]	uncertain significance	8	1780422	1780422	Human	3	name , alternate_id
38470910	CV934231	single nucleotide variant	NM_018941.4(CLN8):c.582G>C (p.Gln194His)	Neuronal ceroid lipofuscinosis [RCV001209773]	uncertain significance	8	1780288	1780288	Human	1	name
38471260	CV934232	single nucleotide variant	NM_018941.4(CLN8):c.667G>C (p.Val223Leu)	Neuronal ceroid lipofuscinosis [RCV001210578]	uncertain significance	8	1780373	1780373	Human	1	name
38460277	CV945997	single nucleotide variant	NM_018941.4(CLN8):c.306G>C (p.Trp102Cys)	Neuronal ceroid lipofuscinosis [RCV001227420]	uncertain significance	8	1771360	1771360	Human	1	name
38463033	CV945999	single nucleotide variant	NM_018941.4(CLN8):c.776A>T (p.Asn259Ile)	Neuronal ceroid lipofuscinosis [RCV001233622]	uncertain significance	8	1780482	1780482	Human	1	name
38469543	CV955382	single nucleotide variant	NM_018941.4(CLN8):c.585G>C (p.Trp195Cys)	Neuronal ceroid lipofuscinosis 8 [RCV001830040]\|Neuronal ceroid lipofuscinosis [RCV001248481]	uncertain significance	8	1780291	1780291	Human	2	name , alternate_id
40906115	CV978457	single nucleotide variant	NM_018941.4(CLN8):c.371C>A (p.Ser124Tyr)	Neuronal ceroid lipofuscinosis 8 [RCV001279443]\|Neuronal ceroid lipofuscinosis [RCV001363688]	uncertain significance	8	1771425	1771425	Human	2	name , alternate_id
40906116	CV978458	single nucleotide variant	NM_018941.4(CLN8):c.382T>C (p.Phe128Leu)	Neuronal ceroid lipofuscinosis 8 [RCV001279444]\|Neuronal ceroid lipofuscinosis [RCV001349934]	uncertain significance	8	1771436	1771436	Human	2	name , alternate_id
40906117	CV978459	single nucleotide variant	NM_018941.4(CLN8):c.631A>G (p.Met211Val)	Neuronal ceroid lipofuscinosis 8 [RCV001279445]\|not specified [RCV003331098]	uncertain significance	8	1780337	1780337	Human	1	name , alternate_id
40906118	CV978460	single nucleotide variant	NM_018941.4(CLN8):c.812A>G (p.Lys271Arg)	Inborn genetic diseases [RCV004978233]\|Neuronal ceroid lipofuscinosis 8 [RCV001279446]	uncertain significance	8	1780518	1780518	Human	2	name , alternate_id
126728812	CV992715	single nucleotide variant	NM_018941.4(CLN8):c.503T>C (p.Met168Thr)	Neuronal ceroid lipofuscinosis [RCV001303465]	uncertain significance	8	1771557	1771557	Human	1	name
126743020	CV992716	single nucleotide variant	NM_018941.4(CLN8):c.781G>A (p.Val261Met)	Neuronal ceroid lipofuscinosis 8 [RCV001835396]\|Neuronal ceroid lipofuscinosis [RCV001296125]	uncertain significance	8	1780487	1780487	Human	2	name , alternate_id
156117169	CV2086541	duplication	NM_018941.4(CLN8):c.109_112dup (p.Val38fs)	Neuronal ceroid lipofuscinosis [RCV002871121]	pathogenic	8	1771161	1771162	Human	1	name
156209905	CV2042513	deletion	NM_018941.4(CLN8):c.678_687del (p.Tyr227fs)	Neuronal ceroid lipofuscinosis [RCV002766555]	pathogenic	8	1780380	1780389	Human	1	name
156387286	CV2122090	duplication	NM_018941.4(CLN8):c.474_477dup (p.Ala160fs)	Neuronal ceroid lipofuscinosis [RCV002943581]	pathogenic	8	1771524	1771525	Human	1	name
8617431	CV71342	deletion	NM_018941.4(CLN8):c.181_183del (p.Lys61del)	Neuronal ceroid lipofuscinosis 8 [RCV000050116]	pathogenic\|likely pathogenic	8	1771233	1771235	Human	1	name , alternate_id
8617441	CV71352	microsatellite	NM_018941.4(CLN8):c.562_563del (p.Leu188fs)	Neuronal ceroid lipofuscinosis 8 [RCV000050126]\|Neuronal ceroid lipofuscinosis [RCV001385516]	pathogenic\|likely pathogenic	8	1780265	1780266	Human		name , alternate_id
8617444	CV71355	microsatellite	NM_018941.4(CLN8):c.634TGG[1] (p.Trp213del)	Neuronal ceroid lipofuscinosis 8 [RCV000050129]	likely pathogenic	8	1780339	1780341	Human		name , alternate_id
38459156	CV925138	duplication	NM_018941.4(CLN8):c.593_596dup (p.Met200fs)	Neuronal ceroid lipofuscinosis 8 [RCV002250732]\|Neuronal ceroid lipofuscinosis [RCV001224910]	pathogenic\|likely pathogenic	8	1780297	1780298	Human	2	name , alternate_id
38464317	CV945998	deletion	NM_018941.4(CLN8):c.429_432del (p.Phe143fs)	Neuronal ceroid lipofuscinosis [RCV001236145]	pathogenic	8	1771480	1771483	Human	1	name
151842316	CV1418224	duplication	NM_018941.4(CLN8):c.859dup (p.Ter287LeuextTer?)	Neuronal ceroid lipofuscinosis [RCV001902995]	uncertain significance	8	1780564	1780565	Human	1	name
405073662	CV2853856	deletion	NM_018941.4(CLN8):c.68_76del (p.Ile23_Ser25del)	Neuronal ceroid lipofuscinosis [RCV003533885]	pathogenic	8	1771121	1771129	Human	1	name
12849415	CV364214	duplication	NM_024120.5(NDUFAF5):c.264-3dup	not provided [RCV000429552]\|not specified [RCV005238978]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	20	13788577	13788578	Human		alternate_id
616933875	CV4011846	deletion	NC_000008.10:g.(?_1711954)_(1734737_?)del	Neuronal ceroid lipofuscinosis 8 [RCV005408395]	pathogenic				Human	1	alternate_id

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