Prickle1 Variant Search Result - Rat Genome Database

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637 records found for search term Prickle1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11665106	CV317071	single nucleotide variant	NM_153026.3(PRICKLE1):c.*70G>A	Progressive myoclonus epilepsy with ataxia [RCV000366149]	uncertain significance	12	42459739	42459739	Human		name , alternate_id
11664970	CV324798	single nucleotide variant	NM_153026.3(PRICKLE1):c.*91T>C	not provided [RCV001715696]	benign	12	42459718	42459718	Human		name
11665180	CV324802	single nucleotide variant	NM_153026.3(PRICKLE1):c.*46G>C	Progressive myoclonus epilepsy with ataxia [RCV000402161]	uncertain significance	12	42459763	42459763	Human		name , alternate_id
11664998	CV324815	single nucleotide variant	NM_153026.3(PRICKLE1):c.-33G>A	Progressive myoclonus epilepsy with ataxia [RCV000316719]	uncertain significance	12	42472549	42472549	Human		name , alternate_id
11665082	CV330934	single nucleotide variant	NM_153026.3(PRICKLE1):c.-40G>A	not specified [RCV000444215]	likely benign\|uncertain significance	12	42472556	42472556	Human		name
596943748	CV3544364	single nucleotide variant	NM_153026.3(PRICKLE1):c.-11C>A	not specified [RCV004800844]	uncertain significance	12	42472527	42472527	Human		name
13525334	CV504426	single nucleotide variant	NM_153026.3(PRICKLE1):c.-14A>G	not specified [RCV000603018]	likely benign	12	42472530	42472530	Human		name
11665035	CV317064	single nucleotide variant	NM_153026.3(PRICKLE1):c.*715G>T	Progressive myoclonus epilepsy with ataxia [RCV000333117]	uncertain significance	12	42459094	42459094	Human		name , alternate_id
11665178	CV317070	single nucleotide variant	NM_153026.3(PRICKLE1):c.*142G>A	Epilepsy, progressive myoclonic, 1B [RCV000401110]	uncertain significance	12	42459667	42459667	Human	1	name
11665134	CV317082	single nucleotide variant	NM_153026.3(PRICKLE1):c.-181G>A	not provided [RCV001648958]	benign\|likely benign	12	42589597	42589597	Human		name
11664878	CV324775	single nucleotide variant	NM_153026.3(PRICKLE1):c.*897G>A	Progressive myoclonus epilepsy with ataxia [RCV000268931]	uncertain significance	12	42458912	42458912	Human		name , alternate_id
11665068	CV324780	deletion	NM_153026.3(PRICKLE1):c.*552del	Epilepsy, progressive myoclonic, 1B [RCV000348402]\|not provided [RCV004693107]	uncertain significance	12	42459257	42459257	Human	1	name
11664915	CV324781	single nucleotide variant	NM_153026.3(PRICKLE1):c.*527G>T	Progressive myoclonus epilepsy with ataxia [RCV000280817]	benign	12	42459282	42459282	Human		name , alternate_id
11665041	CV324796	single nucleotide variant	NM_153026.3(PRICKLE1):c.*430C>G	Progressive myoclonus epilepsy with ataxia [RCV000335739]	uncertain significance	12	42459379	42459379	Human		name , alternate_id
11665015	CV324821	single nucleotide variant	NM_153026.3(PRICKLE1):c.-142G>A	Progressive myoclonus epilepsy with ataxia [RCV000324742]	uncertain significance	12	42589558	42589558	Human		name , alternate_id
11665150	CV324835	single nucleotide variant	NM_153026.3(PRICKLE1):c.-213G>C	Progressive myoclonus epilepsy with ataxia [RCV000384325]	uncertain significance	12	42589629	42589629	Human		name , alternate_id
11665063	CV324837	single nucleotide variant	NM_153026.3(PRICKLE1):c.-246G>A	Progressive myoclonus epilepsy with ataxia [RCV000344996]	uncertain significance	12	42589662	42589662	Human		name , alternate_id
11665144	CV330901	single nucleotide variant	NM_153026.3(PRICKLE1):c.*983C>A	Progressive myoclonus epilepsy with ataxia [RCV000382088]	uncertain significance	12	42458826	42458826	Human		name , alternate_id
11665156	CV330902	single nucleotide variant	NM_153026.3(PRICKLE1):c.*614G>A	Epilepsy, progressive myoclonic, 1B [RCV000387647]	uncertain significance	12	42459195	42459195	Human	1	name
11665131	CV330903	single nucleotide variant	NM_153026.3(PRICKLE1):c.*546A>C	Progressive myoclonus epilepsy with ataxia [RCV000375291]	uncertain significance	12	42459263	42459263	Human		name , alternate_id
11665175	CV330905	single nucleotide variant	NM_153026.3(PRICKLE1):c.*398G>T	Progressive myoclonus epilepsy with ataxia [RCV000397917]	likely benign	12	42459411	42459411	Human		name , alternate_id
11664934	CV330909	single nucleotide variant	NM_153026.3(PRICKLE1):c.*261T>C	not provided [RCV001715893]	benign	12	42459548	42459548	Human		name
11665024	CV330938	single nucleotide variant	NM_153026.3(PRICKLE1):c.-204G>A	Progressive myoclonus epilepsy with ataxia [RCV000328207]	uncertain significance	12	42589620	42589620	Human		name , alternate_id
11664936	CV330939	single nucleotide variant	NM_153026.3(PRICKLE1):c.-238C>G	Progressive myoclonus epilepsy with ataxia [RCV000287623]	uncertain significance	12	42589654	42589654	Human		name , alternate_id
11664955	CV330941	single nucleotide variant	NM_153026.3(PRICKLE1):c.-287C>G	Progressive myoclonus epilepsy with ataxia [RCV000295947]	uncertain significance	12	42589703	42589703	Human		name , alternate_id
11665057	CV332408	single nucleotide variant	NM_153026.3(PRICKLE1):c.*233C>T	Progressive myoclonus epilepsy with ataxia [RCV000341703]	uncertain significance	12	42459576	42459576	Human		name , alternate_id
11664926	CV332425	single nucleotide variant	NM_153026.3(PRICKLE1):c.-190C>G	Progressive myoclonus epilepsy with ataxia [RCV000284907]	likely benign	12	42589606	42589606	Human		name , alternate_id
126915047	CV1047941	single nucleotide variant	NM_153026.3(PRICKLE1):c.384+3G>A	Epilepsy, progressive myoclonic, 1B [RCV001359759]	uncertain significance	12	42469447	42469447	Human	1	name
127312649	CV1143474	single nucleotide variant	NM_153026.3(PRICKLE1):c.588+8A>G	Epilepsy, progressive myoclonic, 1B [RCV001501978]	likely benign	12	42468618	42468618	Human	1	name
127290747	CV1143476	single nucleotide variant	NM_153026.3(PRICKLE1):c.385-7T>C	Epilepsy, progressive myoclonic, 1B [RCV001496057]	likely benign	12	42468836	42468836	Human	1	name
152157991	CV1639496	single nucleotide variant	NM_153026.3(PRICKLE1):c.589-9T>G	Epilepsy, progressive myoclonic, 1B [RCV002180415]	likely benign	12	42466389	42466389	Human	1	name
155964146	CV1881940	single nucleotide variant	NM_153026.3(PRICKLE1):c.588+6A>C	Epilepsy, progressive myoclonic, 1B [RCV003074842]	uncertain significance	12	42468620	42468620	Human	1	name
156325068	CV2054050	single nucleotide variant	NM_153026.3(PRICKLE1):c.775+3A>G	Epilepsy, progressive myoclonic, 1B [RCV002810341]	uncertain significance	12	42466191	42466191	Human	1	name
155912735	CV2153427	duplication	NM_153026.3(PRICKLE1):c.132+3dup	Epilepsy, progressive myoclonic, 1B [RCV003012373]	uncertain significance	12	42472381	42472382	Human	1	name
405076259	CV2878002	single nucleotide variant	NM_153026.3(PRICKLE1):c.133-9C>G	Epilepsy, progressive myoclonic, 1B [RCV003524178]	likely benign	12	42470368	42470368	Human	1	name
11664877	CV317050	single nucleotide variant	NM_153026.3(PRICKLE1):c.*1292T>C	Progressive myoclonus epilepsy with ataxia [RCV000268448]	uncertain significance	12	42458517	42458517	Human		name , alternate_id
11665090	CV317052	single nucleotide variant	NM_153026.3(PRICKLE1):c.*1218G>A	Progressive myoclonus epilepsy with ataxia [RCV000359556]	uncertain significance	12	42458591	42458591	Human		name , alternate_id
11664887	CV317053	single nucleotide variant	NM_153026.3(PRICKLE1):c.*1047C>T	Progressive myoclonus epilepsy with ataxia [RCV000272379]	uncertain significance	12	42458762	42458762	Human		name , alternate_id
11665020	CV324774	single nucleotide variant	NM_153026.3(PRICKLE1):c.*1044C>T	Progressive myoclonus epilepsy with ataxia [RCV000327417]	uncertain significance	12	42458765	42458765	Human		name , alternate_id
11665080	CV330900	single nucleotide variant	NM_153026.3(PRICKLE1):c.*1394G>A	Progressive myoclonus epilepsy with ataxia [RCV000353885]	benign	12	42458415	42458415	Human	2	name , alternate_id
11665080	CV330900	single nucleotide variant	NM_153026.3(PRICKLE1):c.*1394G>A	Progressive myoclonus epilepsy with ataxia [RCV000353885]	benign	12	42458415	42458416	Human	2	name , alternate_id
11664978	CV332405	single nucleotide variant	NM_153026.3(PRICKLE1):c.*1283G>T	Progressive myoclonus epilepsy with ataxia [RCV000304797]	benign	12	42458526	42458526	Human		name , alternate_id
13540570	CV504864	single nucleotide variant	NM_153026.3(PRICKLE1):c.246+7T>C	not specified [RCV000614884]	likely benign	12	42470239	42470239	Human		name
14705180	CV652323	single nucleotide variant	NM_153026.3(PRICKLE1):c.588+5A>C	Epilepsy, progressive myoclonic, 1B [RCV000800065]	uncertain significance	12	42468621	42468621	Human	1	name
15113471	CV776041	deletion	NM_153026.3(PRICKLE1):c.133-5del	Epilepsy, progressive myoclonic, 1B [RCV001495797]	likely benign	12	42470364	42470364	Human	1	name
28910960	CV859967	single nucleotide variant	NM_153026.3(PRICKLE1):c.384+6C>A	Epilepsy, progressive myoclonic, 1B [RCV002554867]\|not provided [RCV001093219]	uncertain significance	12	42469444	42469444	Human	1	name
150419790	CV1194674	single nucleotide variant	NM_153026.3(PRICKLE1):c.132+57T>C	not provided [RCV001569838]	likely benign	12	42472328	42472328	Human		name
150445282	CV1261172	single nucleotide variant	NM_153026.3(PRICKLE1):c.384+81G>C	not provided [RCV001679846]	benign	12	42469369	42469369	Human		name
150535711	CV1311996	single nucleotide variant	NM_153026.3(PRICKLE1):c.775+48G>A	not provided [RCV001779807]	likely benign	12	42466146	42466146	Human		name
8692539	CV142508	single nucleotide variant	NM_153026.3(PRICKLE1):c.775+20G>A	Epilepsy, progressive myoclonic, 1B [RCV002055758]\|not specified [RCV000127605]	benign\|likely benign	12	42466174	42466174	Human	1	name
8692543	CV142512	single nucleotide variant	NM_153026.3(PRICKLE1):c.-49+19C>T	not specified [RCV000127611]	benign	12	42589446	42589446	Human		name
152065087	CV1535934	single nucleotide variant	NM_153026.3(PRICKLE1):c.384+17C>G	Epilepsy, progressive myoclonic, 1B [RCV002168532]	likely benign	12	42469433	42469433	Human	1	name
152047724	CV1569525	duplication	NM_153026.3(PRICKLE1):c.588+10dup	Epilepsy, progressive myoclonic, 1B [RCV002126844]	benign	12	42468615	42468616	Human	1	name
152131272	CV1631102	single nucleotide variant	NM_153026.3(PRICKLE1):c.246+11A>T	Epilepsy, progressive myoclonic, 1B [RCV002119119]	likely benign	12	42470235	42470235	Human	1	name
152161900	CV1635650	single nucleotide variant	NM_153026.3(PRICKLE1):c.385-20T>G	Epilepsy, progressive myoclonic, 1B [RCV002203576]	likely benign	12	42468849	42468849	Human	1	name
152030353	CV1661429	single nucleotide variant	NM_153026.3(PRICKLE1):c.588+11G>C	Epilepsy, progressive myoclonic, 1B [RCV002124303]	likely benign	12	42468615	42468615	Human	1	name
156436127	CV1937346	single nucleotide variant	NM_153026.3(PRICKLE1):c.246+20G>T	Epilepsy, progressive myoclonic, 1B [RCV003105211]	likely benign	12	42470226	42470226	Human	1	name
156441518	CV1944180	single nucleotide variant	NM_153026.3(PRICKLE1):c.132+18C>T	Epilepsy, progressive myoclonic, 1B [RCV003111845]	likely benign	12	42472367	42472367	Human	1	name
10396670	CV202692	single nucleotide variant	NM_153026.3(PRICKLE1):c.1639+3A>G	Epilepsy, progressive myoclonic, 1B [RCV001435784]\|not specified [RCV000188728]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	42464392	42464392	Human	1	name
156115159	CV2136389	single nucleotide variant	NM_153026.3(PRICKLE1):c.1640-9C>G	Epilepsy, progressive myoclonic, 1B [RCV003002755]	likely benign	12	42460674	42460674	Human	1	name
156001981	CV2179138	deletion	NM_153026.3(PRICKLE1):c.132+20del	Epilepsy, progressive myoclonic, 1B [RCV003034821]	likely benign	12	42472365	42472365	Human	1	name
405054386	CV2887654	single nucleotide variant	NM_153026.3(PRICKLE1):c.132+20A>G	Epilepsy, progressive myoclonic, 1B [RCV003522374]	likely benign	12	42472365	42472365	Human	1	name
405079020	CV2940447	single nucleotide variant	NM_153026.3(PRICKLE1):c.384+11C>T	Epilepsy, progressive myoclonic, 1B [RCV003633777]	likely benign	12	42469439	42469439	Human	1	name
405079553	CV2948990	single nucleotide variant	NM_153026.3(PRICKLE1):c.588+17C>T	Epilepsy, progressive myoclonic, 1B [RCV003633873]	likely benign	12	42468609	42468609	Human	1	name
12847906	CV373047	single nucleotide variant	NM_153026.3(PRICKLE1):c.775+19C>T	not specified [RCV000444334]	likely benign	12	42466175	42466175	Human		name
12838809	CV373273	single nucleotide variant	NM_153026.3(PRICKLE1):c.133-16A>C	not specified [RCV000427642]	likely benign	12	42470375	42470375	Human		name
12847491	CV375119	single nucleotide variant	NM_153026.3(PRICKLE1):c.588+17C>A	not specified [RCV000443582]	likely benign	12	42468609	42468609	Human		name
597871879	CV3768415	single nucleotide variant	NM_153026.3(PRICKLE1):c.247-20C>T	Epilepsy, progressive myoclonic, 1B [RCV005122794]	likely benign	12	42469607	42469607	Human	1	name
13468345	CV462957	single nucleotide variant	NM_153026.3(PRICKLE1):c.1640-7C>T	Epilepsy, progressive myoclonic, 1B [RCV000544457]	likely benign	12	42460672	42460672	Human	1	name
13541867	CV504157	single nucleotide variant	NM_153026.3(PRICKLE1):c.776-16A>G	Epilepsy, progressive myoclonic, 1B [RCV005091709]\|not specified [RCV000616744]	likely benign	12	42465274	42465274	Human	1	name
13526121	CV504160	single nucleotide variant	NM_153026.3(PRICKLE1):c.588+18C>T	Epilepsy, progressive myoclonic, 1B [RCV002060644]\|not specified [RCV000603696]	likely benign	12	42468608	42468608	Human	1	name
13541048	CV504161	single nucleotide variant	NM_153026.3(PRICKLE1):c.247-10T>C	not specified [RCV000615592]	likely benign	12	42469597	42469597	Human		name
13526723	CV504859	single nucleotide variant	NM_153026.3(PRICKLE1):c.776-14C>T	Epilepsy, progressive myoclonic, 1B [RCV002528726]\|not specified [RCV000604521]	likely benign	12	42465272	42465272	Human	1	name
13541209	CV504861	deletion	NM_153026.3(PRICKLE1):c.588+10del	Epilepsy, progressive myoclonic, 1B [RCV001482985]\|not specified [RCV000615834]	likely benign	12	42468616	42468616	Human	1	name
13618376	CV527157	single nucleotide variant	NM_153026.3(PRICKLE1):c.1639+5G>A	Epilepsy, progressive myoclonic, 1B [RCV000646040]	uncertain significance	12	42464390	42464390	Human	1	name
13828368	CV579816	single nucleotide variant	NM_153026.3(PRICKLE1):c.1639+4C>T	Epilepsy, progressive myoclonic, 1B [RCV002534533]\|not specified [RCV004026846]	uncertain significance	12	42464391	42464391	Human	1	name
14717173	CV666580	single nucleotide variant	NM_153026.3(PRICKLE1):c.775+35T>C	not provided [RCV000829979]	benign	12	42466159	42466159	Human		name
14728915	CV666595	single nucleotide variant	NM_153026.3(PRICKLE1):c.588+61A>T	not provided [RCV000834987]	likely benign	12	42468565	42468565	Human		name
14726264	CV666695	single nucleotide variant	NM_153026.3(PRICKLE1):c.133-75G>T	not provided [RCV000833793]	likely benign	12	42470434	42470434	Human		name
150424761	CV1184699	single nucleotide variant	NM_153026.3(PRICKLE1):c.132+180A>G	not provided [RCV001557091]	likely benign	12	42472205	42472205	Human		name
150495559	CV1205037	single nucleotide variant	NM_153026.3(PRICKLE1):c.775+216G>A	not provided [RCV001593529]	likely benign	12	42465978	42465978	Human		name
150514065	CV1210841	deletion	NM_153026.3(PRICKLE1):c.133-289del	not provided [RCV001598882]	benign	12	42470648	42470648	Human		name
150470164	CV1243280	single nucleotide variant	NM_153026.3(PRICKLE1):c.247-127C>T	not provided [RCV001650801]	benign	12	42469714	42469714	Human		name
150477196	CV1251978	single nucleotide variant	NM_153026.3(PRICKLE1):c.-49+129G>C	not provided [RCV001672177]	benign	12	42589336	42589336	Human		name
150437530	CV1262322	single nucleotide variant	NM_153026.3(PRICKLE1):c.133-284G>A	not provided [RCV001678680]	benign	12	42470643	42470643	Human		name
151876557	CV1344919	single nucleotide variant	NM_153026.3(PRICKLE1):c.1640-14G>A	Epilepsy, progressive myoclonic, 1B [RCV001999009]	uncertain significance	12	42460679	42460679	Human	1	name
152152581	CV1664515	single nucleotide variant	NM_153026.3(PRICKLE1):c.1640-20T>A	Epilepsy, progressive myoclonic, 1B [RCV002158411]	likely benign	12	42460685	42460685	Human	1	name
156088544	CV2170745	single nucleotide variant	NM_153026.3(PRICKLE1):c.1640-12C>T	Epilepsy, progressive myoclonic, 1B [RCV003038133]	likely benign	12	42460677	42460677	Human	1	name
11665000	CV332416	single nucleotide variant	NM_153026.3(PRICKLE1):c.1639+15G>T	Epilepsy, progressive myoclonic, 1B [RCV003525168]	likely benign\|uncertain significance	12	42464380	42464380	Human	1	name
12836910	CV375110	single nucleotide variant	NM_153026.3(PRICKLE1):c.1640-11C>T	not specified [RCV000424245]	likely benign	12	42460676	42460676	Human		name
14709796	CV665932	single nucleotide variant	NM_153026.3(PRICKLE1):c.246+247C>T	not provided [RCV000827521]	benign	12	42469999	42469999	Human		name
14710749	CV665937	single nucleotide variant	NM_153026.3(PRICKLE1):c.132+313G>A	not provided [RCV000827803]	benign	12	42472072	42472072	Human	2	name
14710749	CV665937	single nucleotide variant	NM_153026.3(PRICKLE1):c.132+313G>A	not provided [RCV000827803]	benign	12	42472072	42472073	Human	2	name
14709793	CV665952	single nucleotide variant	NM_153026.3(PRICKLE1):c.132+122T>C	not provided [RCV000827520]	benign	12	42472263	42472263	Human		name
14707371	CV666587	single nucleotide variant	NM_153026.3(PRICKLE1):c.588+123C>G	not provided [RCV000826820]	benign	12	42468503	42468503	Human		name
14733433	CV666599	single nucleotide variant	NM_153026.3(PRICKLE1):c.246+230C>T	not provided [RCV000837091]	likely benign	12	42470016	42470016	Human		name
14733431	CV666600	single nucleotide variant	NM_153026.3(PRICKLE1):c.-48-137G>T	not provided [RCV000837090]	likely benign	12	42472701	42472701	Human		name
14714321	CV666601	single nucleotide variant	NM_153026.3(PRICKLE1):c.-48-293C>T	not provided [RCV000828999]	benign	12	42472857	42472857	Human		name
14719359	CV666691	single nucleotide variant	NM_153026.3(PRICKLE1):c.776-258C>G	not provided [RCV000830739]	likely benign	12	42465516	42465516	Human		name
14733429	CV666697	single nucleotide variant	NM_153026.3(PRICKLE1):c.-48-204G>A	not provided [RCV000837089]	likely benign	12	42472768	42472768	Human		name
14723366	CV666924	single nucleotide variant	NM_153026.3(PRICKLE1):c.1639+60A>C	not provided [RCV000832502]	benign	12	42464335	42464335	Human		name
14712873	CV666930	single nucleotide variant	NM_153026.3(PRICKLE1):c.775+257G>A	not provided [RCV000828559]	benign	12	42465937	42465937	Human		name
14727327	CV666933	single nucleotide variant	NM_153026.3(PRICKLE1):c.385-119A>C	not provided [RCV000834264]	benign	12	42468948	42468948	Human		name
14733643	CV666940	single nucleotide variant	NM_153026.3(PRICKLE1):c.247-207A>T	not provided [RCV000837187]	likely benign	12	42469794	42469794	Human		name
14746207	CV666947	single nucleotide variant	NM_153026.3(PRICKLE1):c.-48-343C>T	not provided [RCV000844195]	benign	12	42472907	42472907	Human		name
407572699	CV3497184	single nucleotide variant	NM_153026.3(PRICKLE1):c.1639+903C>A	not provided [RCV004699004]	uncertain significance	12	42463492	42463492	Human		name
407572705	CV3497190	single nucleotide variant	NM_153026.3(PRICKLE1):c.1639+462C>G	not provided [RCV004699010]	uncertain significance	12	42463933	42463933	Human		name
14719860	CV665927	single nucleotide variant	NM_153026.3(PRICKLE1):c.1640-256C>G	not provided [RCV000830967]	likely benign	12	42460921	42460921	Human		name
14707373	CV665929	single nucleotide variant	NM_153026.3(PRICKLE1):c.1639+168G>C	not provided [RCV000826821]	benign	12	42464227	42464227	Human		name
150339650	CV1167557	single nucleotide variant	NM_153026.3(PRICKLE1):c.-48-11001C>T	not provided [RCV001534416]	benign	12	42483565	42483565	Human		name
150482676	CV1244313	single nucleotide variant	NM_153026.3(PRICKLE1):c.-48-10607G>A	not provided [RCV001653161]	likely benign	12	42483171	42483171	Human		name
150515612	CV1285600	single nucleotide variant	NM_153026.3(PRICKLE1):c.-48-10599C>A	not provided [RCV001723053]	benign	12	42483163	42483163	Human		name
150521048	CV1290807	single nucleotide variant	NM_153026.3(PRICKLE1):c.-48-10897G>A	not provided [RCV001732461]	likely benign	12	42483461	42483461	Human		name
153349416	CV1693273	single nucleotide variant	NM_153026.3(PRICKLE1):c.-48-11145G>T	not provided [RCV002275818]	likely benign	12	42483709	42483709	Human		name
11664950	CV317066	deletion	NM_153026.3(PRICKLE1):c.594_595del	Epilepsy, progressive myoclonic, 1B [RCV000293506]	uncertain significance	12	42459214	42459215	Human	1	name
11665158	CV317084	duplication	NM_153026.3(PRICKLE1):c.-279_-277dup	Epilepsy, progressive myoclonic, 1B [RCV000387899]	uncertain significance	12	42589692	42589693	Human	1	name
39456379	CV965582	single nucleotide variant	NM_153026.3(PRICKLE1):c.-48-11193G>A	Epilepsy, progressive myoclonic, 1B [RCV004799263]	uncertain significance	12	42483757	42483757	Human	1	name
152159661	CV1589869	deletion	NM_153026.3(PRICKLE1):c.133-7_133-5del	Epilepsy, progressive myoclonic, 1B [RCV002203213]	likely benign	12	42470364	42470366	Human	1	name
10397245	CV202709	deletion	NM_153026.3(PRICKLE1):c.8del (p.Leu3fs)	Epilepsy, progressive myoclonic, 1B [RCV001852493]\|not specified [RCV000188752]	uncertain significance	12	42472509	42472509	Human	1	name
11664875	CV324820	microsatellite	NM_153026.3(PRICKLE1):c.-122CGCAGCCC[3]	Epilepsy, progressive myoclonic, 1B [RCV000267373]	likely benign	12	42589522	42589523	Human		name
12900578	CV408654	deletion	NM_153026.3(PRICKLE1):c.775+9_775+18del	Epilepsy, progressive myoclonic, 1B [RCV001455006]\|not specified [RCV000482680]	likely benign	12	42466176	42466185	Human	1	name
126916934	CV1047944	single nucleotide variant	NM_153026.3(PRICKLE1):c.3G>A (p.Met1Ile)	Epilepsy, progressive myoclonic, 1B [RCV001371785]	uncertain significance	12	42472514	42472514	Human	1	name
150340197	CV1168266	microsatellite	NM_153026.3(PRICKLE1):c.1640-234CAAAA[2]	not provided [RCV001535100]	likely benign	12	42460885	42460889	Human		name
152099402	CV1627255	single nucleotide variant	NM_153026.3(PRICKLE1):c.88T>C (p.Leu30=)	Epilepsy, progressive myoclonic, 1B [RCV002095311]	likely benign	12	42472429	42472429	Human	1	name
156048598	CV2144427	single nucleotide variant	NM_153026.3(PRICKLE1):c.51G>A (p.Gln17=)	Epilepsy, progressive myoclonic, 1B [RCV002999795]	likely benign	12	42472466	42472466	Human	1	name
12839735	CV375126	single nucleotide variant	NM_153026.3(PRICKLE1):c.60C>A (p.Ser20=)	Epilepsy, progressive myoclonic, 1B [RCV000863001]\|PRICKLE1-related disorder [RCV003959874]\|not specified [RCV000429382]	likely benign	12	42472457	42472457	Human	2	name , trait , alternate_id
13538153	CV504869	single nucleotide variant	NM_153026.3(PRICKLE1):c.36G>A (p.Leu12=)	Epilepsy, progressive myoclonic, 1B [RCV003633521]\|not specified [RCV000611411]	likely benign	12	42472481	42472481	Human	1	name
15150137	CV687993	single nucleotide variant	NM_153026.3(PRICKLE1):c.99C>T (p.Tyr33=)	Epilepsy, progressive myoclonic, 1B [RCV000866991]	likely benign	12	42472418	42472418	Human	1	name
8643416	CV102399	single nucleotide variant	NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=)	Epilepsy, progressive myoclonic, 1B [RCV001083947]\|PRICKLE1-related disorder [RCV003905071]\|not provided [RCV000082657]\|not specified [RCV000186653]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	12	42472403	42472403	Human	2	name , trait , alternate_id
127300524	CV1122603	single nucleotide variant	NM_153026.3(PRICKLE1):c.202C>A (p.Arg68=)	Epilepsy, progressive myoclonic, 1B [RCV001453917]	likely benign	12	42470290	42470290	Human	1	name
127329251	CV1122604	single nucleotide variant	NM_153026.3(PRICKLE1):c.189C>T (p.Pro63=)	Epilepsy, progressive myoclonic, 1B [RCV001470066]\|not specified [RCV004037099]	likely benign	12	42470303	42470303	Human	1	name
151877507	CV1361435	single nucleotide variant	NM_153026.3(PRICKLE1):c.162G>A (p.Glu54=)	Epilepsy, progressive myoclonic, 1B [RCV001926008]	likely benign\|uncertain significance	12	42470330	42470330	Human	1	name
8692536	CV142505	single nucleotide variant	NM_153026.3(PRICKLE1):c.108C>T (p.Val36=)	Epilepsy, progressive myoclonic, 1B [RCV000263882]\|PRICKLE1-related disorder [RCV003894987]\|not provided [RCV001200583]\|not specified [RCV000175984]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	42472409	42472409	Human	2	name , trait , alternate_id
8692537	CV142506	single nucleotide variant	NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=)	Epilepsy, progressive myoclonic, 1B [RCV000356326]\|not provided [RCV002510787]\|not specified [RCV000186654]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	42470315	42470315	Human	1	name
156065201	CV1925881	single nucleotide variant	NM_153026.3(PRICKLE1):c.156A>G (p.Leu52=)	Epilepsy, progressive myoclonic, 1B [RCV002621078]	likely benign	12	42470336	42470336	Human	1	name
10396676	CV202706	single nucleotide variant	NM_153026.3(PRICKLE1):c.132G>A (p.Gln44=)	Epilepsy, progressive myoclonic, 1B [RCV000646037]\|not provided [RCV000188735]	uncertain significance	12	42472385	42472385	Human	1	name
10396674	CV202708	single nucleotide variant	NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val)	Epilepsy, progressive myoclonic, 1B [RCV000646044]\|not provided [RCV000188733]\|not specified [RCV004020283]	uncertain significance	12	42472492	42472492	Human	1	name
156032623	CV2142161	single nucleotide variant	NM_153026.3(PRICKLE1):c.10G>A (p.Glu4Lys)	Epilepsy, progressive myoclonic, 1B [RCV002976670]\|not specified [RCV004065169]	uncertain significance	12	42472507	42472507	Human	1	name
404977593	CV2850859	single nucleotide variant	NM_153026.3(PRICKLE1):c.14T>C (p.Met5Thr)	Epilepsy, progressive myoclonic, 1B [RCV003486207]	uncertain significance	12	42472503	42472503	Human	1	name
405059169	CV2929774	single nucleotide variant	NM_153026.3(PRICKLE1):c.174T>G (p.Pro58=)	Epilepsy, progressive myoclonic, 1B [RCV003522799]	likely benign	12	42470318	42470318	Human	1	name
405072958	CV3042334	single nucleotide variant	NM_153026.3(PRICKLE1):c.234A>C (p.Pro78=)	Epilepsy, progressive myoclonic, 1B [RCV003633269]	likely benign	12	42470258	42470258	Human	1	name
597899004	CV3782848	single nucleotide variant	NM_153026.3(PRICKLE1):c.192A>G (p.Gly64=)	Epilepsy, progressive myoclonic, 1B [RCV005126868]	likely benign	12	42470300	42470300	Human	1	name
597974170	CV3821128	single nucleotide variant	NM_153026.3(PRICKLE1):c.255T>C (p.Tyr85=)	Epilepsy, progressive myoclonic, 1B [RCV005168449]	likely benign	12	42469579	42469579	Human	1	name
13618386	CV527693	single nucleotide variant	NM_153026.3(PRICKLE1):c.276G>A (p.Glu92=)	Epilepsy, progressive myoclonic, 1B [RCV000646047]\|not specified [RCV004025694]	likely benign	12	42469558	42469558	Human	1	name
13618388	CV527695	single nucleotide variant	NM_153026.3(PRICKLE1):c.249A>G (p.Val83=)	Epilepsy, progressive myoclonic, 1B [RCV000646050]	likely benign	12	42469585	42469585	Human	1	name
13618385	CV527697	single nucleotide variant	NM_153026.3(PRICKLE1):c.198G>A (p.Lys66=)	Epilepsy, progressive myoclonic, 1B [RCV000646046]	likely benign	12	42470294	42470294	Human	1	name
15131395	CV760203	deletion	NM_153026.3(PRICKLE1):c.1639+8_1639+20del	Epilepsy, progressive myoclonic, 1B [RCV001463540]	likely benign	12	42464375	42464387	Human	1	name
15134333	CV769117	single nucleotide variant	NM_153026.3(PRICKLE1):c.108C>G (p.Val36=)	Epilepsy, progressive myoclonic, 1B [RCV001448405]	likely benign	12	42472409	42472409	Human	1	name
126725244	CV995206	single nucleotide variant	NM_153026.3(PRICKLE1):c.27G>A (p.Met9Ile)	Epilepsy, progressive myoclonic, 1B [RCV001302507]	uncertain significance	12	42472490	42472490	Human	1	name
126737901	CV1030941	single nucleotide variant	NM_153026.3(PRICKLE1):c.50A>C (p.Gln17Pro)	Epilepsy, progressive myoclonic, 1B [RCV001350411]\|not specified [RCV004847812]	uncertain significance	12	42472467	42472467	Human	1	name
127239829	CV1079396	single nucleotide variant	NM_153026.3(PRICKLE1):c.864G>A (p.Leu288=)	Epilepsy, progressive myoclonic, 1B [RCV001392808]	likely benign	12	42465170	42465170	Human	1	name
127235041	CV1079397	single nucleotide variant	NM_153026.3(PRICKLE1):c.720T>C (p.Cys240=)	Epilepsy, progressive myoclonic, 1B [RCV001396551]	likely benign	12	42466249	42466249	Human	1	name
127261985	CV1079398	single nucleotide variant	NM_153026.3(PRICKLE1):c.372T>C (p.Ala124=)	Epilepsy, progressive myoclonic, 1B [RCV001402537]	likely benign	12	42469462	42469462	Human	1	name
127246797	CV1101142	single nucleotide variant	NM_153026.3(PRICKLE1):c.825G>A (p.Thr275=)	Epilepsy, progressive myoclonic, 1B [RCV001424573]	likely benign	12	42465209	42465209	Human	1	name
127274777	CV1101143	single nucleotide variant	NM_153026.3(PRICKLE1):c.804C>T (p.Asp268=)	Epilepsy, progressive myoclonic, 1B [RCV001442987]	likely benign	12	42465230	42465230	Human	1	name
127292530	CV1122601	single nucleotide variant	NM_153026.3(PRICKLE1):c.939T>C (p.His313=)	Epilepsy, progressive myoclonic, 1B [RCV001476325]	likely benign	12	42465095	42465095	Human	1	name
127305385	CV1122602	single nucleotide variant	NM_153026.3(PRICKLE1):c.933C>T (p.Asp311=)	Epilepsy, progressive myoclonic, 1B [RCV001455247]	likely benign	12	42465101	42465101	Human	1	name
127325756	CV1143475	single nucleotide variant	NM_153026.3(PRICKLE1):c.489G>A (p.Glu163=)	Epilepsy, progressive myoclonic, 1B [RCV001506096]	likely benign	12	42468725	42468725	Human	1	name
8660434	CV135475	single nucleotide variant	NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=)	Epilepsy, progressive myoclonic, 1B [RCV000314185]\|not provided [RCV004707982]\|not specified [RCV000118055]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	42468629	42468629	Human	1	name
8660435	CV135476	single nucleotide variant	NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=)	Epilepsy, progressive myoclonic, 1B [RCV000228816]\|not provided [RCV004706536]\|not specified [RCV000118056]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	12	42466225	42466225	Human	1	name
151850039	CV1355297	single nucleotide variant	NM_153026.3(PRICKLE1):c.540C>T (p.Gly180=)	Epilepsy, progressive myoclonic, 1B [RCV001957856]	likely benign\|uncertain significance	12	42468674	42468674	Human	1	name
8692538	CV142507	single nucleotide variant	NM_153026.3(PRICKLE1):c.471C>T (p.Val157=)	Epilepsy, progressive myoclonic, 1B [RCV000646053]\|not specified [RCV000127602]	benign\|likely benign	12	42468743	42468743	Human	1	name
8692540	CV142509	single nucleotide variant	NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=)	Epilepsy, progressive myoclonic, 1B [RCV000469177]\|not provided [RCV001705918]\|not specified [RCV000180006]	benign\|likely benign	12	42465080	42465080	Human	1	name
8692541	CV142510	single nucleotide variant	NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=)	Epilepsy, progressive myoclonic, 1B [RCV000291960]\|PRICKLE1-related disorder [RCV003945138]\|not provided [RCV003326353]\|not specified [RCV000127607]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	42465080	42465080	Human	2	name , trait , alternate_id
152105214	CV1536670	single nucleotide variant	NM_153026.3(PRICKLE1):c.669G>A (p.Thr223=)	Epilepsy, progressive myoclonic, 1B [RCV002173621]\|not specified [RCV004046415]	likely benign	12	42466300	42466300	Human	1	name
152080562	CV1550142	single nucleotide variant	NM_153026.3(PRICKLE1):c.702C>T (p.Asp234=)	Epilepsy, progressive myoclonic, 1B [RCV002192968]	likely benign	12	42466267	42466267	Human	1	name
152084904	CV1554973	single nucleotide variant	NM_153026.3(PRICKLE1):c.612A>C (p.Thr204=)	Epilepsy, progressive myoclonic, 1B [RCV002211910]	likely benign	12	42466357	42466357	Human	1	name
152077527	CV1560836	single nucleotide variant	NM_153026.3(PRICKLE1):c.399A>C (p.Ile133=)	Epilepsy, progressive myoclonic, 1B [RCV002112309]	likely benign	12	42468815	42468815	Human	1	name
152170349	CV1592386	single nucleotide variant	NM_153026.3(PRICKLE1):c.936C>T (p.Val312=)	Epilepsy, progressive myoclonic, 1B [RCV002161741]	likely benign	12	42465098	42465098	Human	1	name
152144212	CV1651630	single nucleotide variant	NM_153026.3(PRICKLE1):c.522T>C (p.Asp174=)	Epilepsy, progressive myoclonic, 1B [RCV002138571]	likely benign	12	42468692	42468692	Human	1	name
155744911	CV1806373	single nucleotide variant	NM_153026.3(PRICKLE1):c.531T>A (p.Ile177=)	Epilepsy, progressive myoclonic, 1B [RCV005096768]\|not specified [RCV004052396]	likely benign	12	42468683	42468683	Human	1	name
156364702	CV1895686	single nucleotide variant	NM_153026.3(PRICKLE1):c.991C>A (p.Arg331=)	Epilepsy, progressive myoclonic, 1B [RCV003091968]	likely benign	12	42465043	42465043	Human	1	name
155974439	CV2062669	single nucleotide variant	NM_153026.3(PRICKLE1):c.55A>G (p.Ser19Gly)	Epilepsy, progressive myoclonic, 1B [RCV002842224]	uncertain significance	12	42472462	42472462	Human	1	name
156136417	CV2165695	single nucleotide variant	NM_153026.3(PRICKLE1):c.327G>A (p.Leu109=)	Epilepsy, progressive myoclonic, 1B [RCV003022368]	likely benign	12	42469507	42469507	Human	1	name
156083238	CV2184306	single nucleotide variant	NM_153026.3(PRICKLE1):c.391T>C (p.Leu131=)	Epilepsy, progressive myoclonic, 1B [RCV003054102]	likely benign	12	42468823	42468823	Human	1	name
11347989	CV241553	single nucleotide variant	NM_153026.3(PRICKLE1):c.47G>A (p.Cys16Tyr)	Epilepsy, progressive myoclonic, 1B [RCV000233986]\|Intellectual disability [RCV001252360]	uncertain significance	12	42472470	42472470	Human	3	name
405075579	CV2874043	single nucleotide variant	NM_153026.3(PRICKLE1):c.774T>C (p.Ile258=)	Epilepsy, progressive myoclonic, 1B [RCV003524135]	uncertain significance	12	42466195	42466195	Human	1	name
405092626	CV3134582	single nucleotide variant	NM_153026.3(PRICKLE1):c.673C>T (p.Leu225=)	Epilepsy, progressive myoclonic, 1B [RCV003834928]	likely benign	12	42466296	42466296	Human	1	name
11665120	CV324811	single nucleotide variant	NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=)	Epilepsy, progressive myoclonic, 1B [RCV000371267]\|not specified [RCV000440016]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	42468779	42468779	Human	1	name
12834645	CV373044	single nucleotide variant	NM_153026.3(PRICKLE1):c.915G>A (p.Thr305=)	Epilepsy, progressive myoclonic, 1B [RCV001475005]\|PRICKLE1-related disorder [RCV003897870]\|not provided [RCV000864497]\|not specified [RCV004022354]	likely benign	12	42465119	42465119	Human	2	name , trait , alternate_id
12833506	CV375114	single nucleotide variant	NM_153026.3(PRICKLE1):c.819C>T (p.His273=)	Epilepsy, progressive myoclonic, 1B [RCV001399237]\|not specified [RCV000418634]	likely benign	12	42465215	42465215	Human	1	name
597934364	CV3777037	single nucleotide variant	NM_153026.3(PRICKLE1):c.762T>C (p.Cys254=)	Epilepsy, progressive myoclonic, 1B [RCV005117196]	likely benign	12	42466207	42466207	Human	1	name
597907928	CV3806049	single nucleotide variant	NM_153026.3(PRICKLE1):c.627C>T (p.Arg209=)	Epilepsy, progressive myoclonic, 1B [RCV005153807]	likely benign	12	42466342	42466342	Human	1	name
597974205	CV3821151	single nucleotide variant	NM_153026.3(PRICKLE1):c.942C>T (p.Ala314=)	Epilepsy, progressive myoclonic, 1B [RCV005168472]	likely benign	12	42465092	42465092	Human	1	name
597958200	CV3848981	single nucleotide variant	NM_153026.3(PRICKLE1):c.555A>G (p.Glu185=)	Epilepsy, progressive myoclonic, 1B [RCV005191982]	likely benign	12	42468659	42468659	Human	1	name
597938395	CV3852795	single nucleotide variant	NM_153026.3(PRICKLE1):c.915G>T (p.Thr305=)	Epilepsy, progressive myoclonic, 1B [RCV005187195]	likely benign	12	42465119	42465119	Human	1	name
12889032	CV398986	single nucleotide variant	NM_153026.3(PRICKLE1):c.444T>G (p.Gly148=)	Epilepsy, progressive myoclonic, 1B [RCV001505789]	likely benign	12	42468770	42468770	Human	1	name
13489134	CV462171	single nucleotide variant	NM_153026.3(PRICKLE1):c.480G>A (p.Thr160=)	Epilepsy, progressive myoclonic, 1B [RCV000555187]\|not specified [RCV000609509]	likely benign	12	42468734	42468734	Human	1	name
13489319	CV462455	single nucleotide variant	NM_153026.3(PRICKLE1):c.861T>C (p.Ser287=)	Epilepsy, progressive myoclonic, 1B [RCV000532850]\|not provided [RCV001729637]	likely benign	12	42465173	42465173	Human	1	name
13483523	CV462459	deletion	NM_153026.3(PRICKLE1):c.139del (p.Leu47fs)	Epilepsy, progressive myoclonic, 1B [RCV000529906]	uncertain significance	12	42470353	42470353	Human	1	name
13480691	CV463101	single nucleotide variant	NM_153026.3(PRICKLE1):c.498C>G (p.Val166=)	Epilepsy, progressive myoclonic, 1B [RCV000528635]	likely benign	12	42468716	42468716	Human	1	name
13536277	CV504158	single nucleotide variant	NM_153026.3(PRICKLE1):c.684G>A (p.Gln228=)	not specified [RCV000608767]	likely benign	12	42466285	42466285	Human		name
13618390	CV527178	single nucleotide variant	NM_153026.3(PRICKLE1):c.423C>T (p.Phe141=)	Epilepsy, progressive myoclonic, 1B [RCV000646051]	likely benign	12	42468791	42468791	Human	1	name
13819694	CV568050	single nucleotide variant	NM_153026.3(PRICKLE1):c.72T>G (p.Asp24Glu)	Epilepsy, progressive myoclonic, 1B [RCV000694485]	uncertain significance	12	42472445	42472445	Human	1	name
15189836	CV725087	single nucleotide variant	NM_153026.3(PRICKLE1):c.447G>A (p.Val149=)	Epilepsy, progressive myoclonic, 1B [RCV001424257]	likely benign	12	42468767	42468767	Human	1	name
126761172	CV995205	single nucleotide variant	NM_153026.3(PRICKLE1):c.43G>A (p.Gly15Ser)	Epilepsy, progressive myoclonic, 1B [RCV001309523]	uncertain significance	12	42472474	42472474	Human	1	name
8643417	CV102400	single nucleotide variant	NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=)	Epilepsy, progressive myoclonic, 1B [RCV001517089]\|not provided [RCV000712846]\|not specified [RCV000082658]	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	12	42460403	42460403	Human	2	name
8643417	CV102400	single nucleotide variant	NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=)	Epilepsy, progressive myoclonic, 1B [RCV001517089]\|not provided [RCV000712846]\|not specified [RCV000082658]	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	12	42460403	42460404	Human	2	name
8643418	CV102401	single nucleotide variant	NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=)	Epilepsy, progressive myoclonic, 1B [RCV000363709]\|PRICKLE1-related disorder [RCV003915105]\|not provided [RCV004703232]\|not specified [RCV000082659]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	42460001	42460001	Human	2	name , trait , alternate_id
126775081	CV1030940	single nucleotide variant	NM_153026.3(PRICKLE1):c.251G>A (p.Arg84Gln)	Epilepsy, progressive myoclonic, 1B [RCV001347969]\|not specified [RCV004847810]	uncertain significance	12	42469583	42469583	Human	1	name
126922610	CV1047942	single nucleotide variant	NM_153026.3(PRICKLE1):c.178G>A (p.Val60Ile)	Epilepsy, progressive myoclonic, 1B [RCV001364870]	uncertain significance	12	42470314	42470314	Human	1	name
126920290	CV1047943	single nucleotide variant	NM_153026.3(PRICKLE1):c.163G>A (p.Glu55Lys)	Epilepsy, progressive myoclonic, 1B [RCV001362790]	uncertain significance	12	42470329	42470329	Human	1	name
127269745	CV1079392	single nucleotide variant	NM_153026.3(PRICKLE1):c.2487T>C (p.Ile829=)	Epilepsy, progressive myoclonic, 1B [RCV001404791]	likely benign	12	42459818	42459818	Human	1	name
127281783	CV1079393	single nucleotide variant	NM_153026.3(PRICKLE1):c.2472G>A (p.Lys824=)	Epilepsy, progressive myoclonic, 1B [RCV001410687]	likely benign	12	42459833	42459833	Human	1	name
127230464	CV1079394	single nucleotide variant	NM_153026.3(PRICKLE1):c.2382T>C (p.Tyr794=)	Epilepsy, progressive myoclonic, 1B [RCV001394686]	likely benign	12	42459923	42459923	Human	1	name
127258196	CV1079395	single nucleotide variant	NM_153026.3(PRICKLE1):c.2029A>C (p.Arg677=)	Epilepsy, progressive myoclonic, 1B [RCV001401647]	likely benign	12	42460276	42460276	Human	1	name
127279939	CV1101138	single nucleotide variant	NM_153026.3(PRICKLE1):c.1977C>T (p.Arg659=)	Epilepsy, progressive myoclonic, 1B [RCV001446089]	likely benign	12	42460328	42460328	Human	1	name
127266219	CV1101139	single nucleotide variant	NM_153026.3(PRICKLE1):c.1953G>C (p.Pro651=)	Epilepsy, progressive myoclonic, 1B [RCV001440188]	likely benign	12	42460352	42460352	Human	1	name
127238900	CV1101140	single nucleotide variant	NM_153026.3(PRICKLE1):c.1944G>A (p.Arg648=)	Epilepsy, progressive myoclonic, 1B [RCV001433868]	likely benign	12	42460361	42460361	Human	1	name
127275244	CV1101141	single nucleotide variant	NM_153026.3(PRICKLE1):c.1059G>A (p.Ser353=)	Epilepsy, progressive myoclonic, 1B [RCV001432238]	likely benign	12	42464975	42464975	Human	1	name
127301064	CV1122599	single nucleotide variant	NM_153026.3(PRICKLE1):c.2403A>T (p.Pro801=)	Epilepsy, progressive myoclonic, 1B [RCV001454044]	likely benign	12	42459902	42459902	Human	1	name
127299551	CV1122600	single nucleotide variant	NM_153026.3(PRICKLE1):c.2109G>C (p.Leu703=)	Epilepsy, progressive myoclonic, 1B [RCV001478221]	likely benign	12	42460196	42460196	Human	1	name
127297917	CV1143467	single nucleotide variant	NM_153026.3(PRICKLE1):c.1770G>A (p.Arg590=)	Epilepsy, progressive myoclonic, 1B [RCV001497877]	likely benign	12	42460535	42460535	Human	1	name
127309760	CV1143468	single nucleotide variant	NM_153026.3(PRICKLE1):c.1596T>C (p.Ser532=)	Epilepsy, progressive myoclonic, 1B [RCV001480972]	likely benign	12	42464438	42464438	Human	1	name
127327271	CV1143469	single nucleotide variant	NM_153026.3(PRICKLE1):c.1533T>C (p.His511=)	Epilepsy, progressive myoclonic, 1B [RCV001506523]\|not specified [RCV004037858]	likely benign	12	42464501	42464501	Human	1	name
127317007	CV1143470	single nucleotide variant	NM_153026.3(PRICKLE1):c.1341C>T (p.Asn447=)	Epilepsy, progressive myoclonic, 1B [RCV001503235]	likely benign	12	42464693	42464693	Human	1	name
127337070	CV1143471	single nucleotide variant	NM_153026.3(PRICKLE1):c.1311T>C (p.Ile437=)	Epilepsy, progressive myoclonic, 1B [RCV001492591]	likely benign	12	42464723	42464723	Human	1	name
127287971	CV1143472	single nucleotide variant	NM_153026.3(PRICKLE1):c.1242T>C (p.Tyr414=)	Epilepsy, progressive myoclonic, 1B [RCV001495057]	likely benign	12	42464792	42464792	Human	1	name
127328706	CV1143473	single nucleotide variant	NM_153026.3(PRICKLE1):c.1107C>T (p.Asp369=)	Epilepsy, progressive myoclonic, 1B [RCV001486920]	likely benign	12	42464927	42464927	Human	1	name
8660429	CV135470	single nucleotide variant	NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=)	Epilepsy, progressive myoclonic, 1B [RCV001517090]\|not provided [RCV000712845]\|not specified [RCV000118050]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	42460406	42460406	Human	1	name
151821448	CV1385091	single nucleotide variant	NM_153026.3(PRICKLE1):c.199C>A (p.His67Asn)	Epilepsy, progressive myoclonic, 1B [RCV001975769]	uncertain significance	12	42470293	42470293	Human	1	name
151857613	CV1408133	single nucleotide variant	NM_153026.3(PRICKLE1):c.266T>A (p.Leu89Ter)	Epilepsy, progressive myoclonic, 1B [RCV001883518]	uncertain significance	12	42469568	42469568	Human	1	name
8692542	CV142511	single nucleotide variant	NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=)	Epilepsy, progressive myoclonic, 1B [RCV000286507]\|PRICKLE1-related disorder [RCV003965064]\|not provided [RCV000723996]\|not specified [RCV000186655]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	42464573	42464573	Human	2	name , trait , alternate_id
151744069	CV1427975	single nucleotide variant	NM_153026.3(PRICKLE1):c.237T>G (p.His79Gln)	Epilepsy, progressive myoclonic, 1B [RCV001926764]	uncertain significance	12	42470255	42470255	Human	1	name
151762251	CV1456020	single nucleotide variant	NM_153026.3(PRICKLE1):c.124C>T (p.Pro42Ser)	Epilepsy, progressive myoclonic, 1B [RCV002044418]	uncertain significance	12	42472393	42472393	Human	1	name
151719961	CV1491429	single nucleotide variant	NM_153026.3(PRICKLE1):c.162G>T (p.Glu54Asp)	Epilepsy, progressive myoclonic, 1B [RCV002003512]	uncertain significance	12	42470330	42470330	Human	1	name
152116097	CV1540918	single nucleotide variant	NM_153026.3(PRICKLE1):c.1851A>T (p.Pro617=)	Epilepsy, progressive myoclonic, 1B [RCV002197415]	likely benign	12	42460454	42460454	Human	1	name
152165554	CV1556870	single nucleotide variant	NM_153026.3(PRICKLE1):c.1092A>G (p.Ser364=)	Epilepsy, progressive myoclonic, 1B [RCV002181759]	likely benign	12	42464942	42464942	Human	1	name
152060836	CV1559257	single nucleotide variant	NM_153026.3(PRICKLE1):c.1908T>C (p.Asp636=)	Epilepsy, progressive myoclonic, 1B [RCV002167981]	likely benign	12	42460397	42460397	Human	1	name
152155068	CV1560908	single nucleotide variant	NM_153026.3(PRICKLE1):c.1600C>A (p.Arg534=)	Epilepsy, progressive myoclonic, 1B [RCV002102821]	likely benign	12	42464434	42464434	Human	1	name
152132311	CV1578553	single nucleotide variant	NM_153026.3(PRICKLE1):c.2229G>A (p.Leu743=)	Epilepsy, progressive myoclonic, 1B [RCV002155705]	likely benign	12	42460076	42460076	Human	1	name
152154274	CV1579450	single nucleotide variant	NM_153026.3(PRICKLE1):c.2388T>C (p.Asp796=)	Epilepsy, progressive myoclonic, 1B [RCV002158637]	likely benign	12	42459917	42459917	Human	1	name
152132875	CV1585155	single nucleotide variant	NM_153026.3(PRICKLE1):c.1230T>C (p.Asp410=)	Epilepsy, progressive myoclonic, 1B [RCV002083107]	likely benign	12	42464804	42464804	Human	1	name
152038155	CV1625029	single nucleotide variant	NM_153026.3(PRICKLE1):c.1971G>A (p.Arg657=)	Epilepsy, progressive myoclonic, 1B [RCV002205931]	likely benign	12	42460334	42460334	Human	1	name
9693239	CV177978	single nucleotide variant	NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=)	Epilepsy, progressive myoclonic, 1B [RCV000276079]\|not provided [RCV000723814]\|not specified [RCV000188730]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	42460043	42460043	Human	1	name
155702322	CV1788431	single nucleotide variant	NM_153026.3(PRICKLE1):c.1132C>T (p.Leu378=)	not specified [RCV004048932]	likely benign	12	42464902	42464902	Human		name
155676832	CV1829425	single nucleotide variant	NM_153026.3(PRICKLE1):c.1029A>C (p.Ala343=)	Epilepsy, progressive myoclonic, 1B [RCV003523132]\|not specified [RCV004058725]	likely benign	12	42465005	42465005	Human	1	name
155682618	CV1839820	single nucleotide variant	NM_153026.3(PRICKLE1):c.1977C>G (p.Arg659=)	not specified [RCV004061620]	likely benign	12	42460328	42460328	Human		name
156219331	CV1879134	single nucleotide variant	NM_153026.3(PRICKLE1):c.1035G>A (p.Gln345=)	Epilepsy, progressive myoclonic, 1B [RCV003058864]	likely benign	12	42464999	42464999	Human	1	name
156327353	CV1880941	single nucleotide variant	NM_153026.3(PRICKLE1):c.202C>T (p.Arg68Trp)	Epilepsy, progressive myoclonic, 1B [RCV003063482]	uncertain significance	12	42470290	42470290	Human	1	name
156354916	CV1894718	single nucleotide variant	NM_153026.3(PRICKLE1):c.1404G>A (p.Gln468=)	Epilepsy, progressive myoclonic, 1B [RCV003091271]	likely benign	12	42464630	42464630	Human	1	name
155953313	CV1896457	single nucleotide variant	NM_153026.3(PRICKLE1):c.1879A>C (p.Arg627=)	Epilepsy, progressive myoclonic, 1B [RCV003095448]	likely benign	12	42460426	42460426	Human	1	name
155959273	CV1900133	single nucleotide variant	NM_153026.3(PRICKLE1):c.1800A>G (p.Ser600=)	Epilepsy, progressive myoclonic, 1B [RCV003095757]	likely benign	12	42460505	42460505	Human	1	name
156371398	CV1905417	single nucleotide variant	NM_153026.3(PRICKLE1):c.2406A>G (p.Pro802=)	Epilepsy, progressive myoclonic, 1B [RCV003092462]	likely benign	12	42459899	42459899	Human	1	name
156305336	CV1933762	single nucleotide variant	NM_153026.3(PRICKLE1):c.1678T>C (p.Leu560=)	Epilepsy, progressive myoclonic, 1B [RCV002629462]	likely benign	12	42460627	42460627	Human	1	name
10053098	CV195781	single nucleotide variant	NM_153026.3(PRICKLE1):c.1248G>A (p.Thr416=)	Epilepsy, progressive myoclonic, 1B [RCV001471879]\|not provided [RCV000724374]\|not specified [RCV000192786]	likely benign\|uncertain significance	12	42464786	42464786	Human	1	name
10397966	CV202705	single nucleotide variant	NM_153026.3(PRICKLE1):c.241A>C (p.Asn81His)	Epilepsy, progressive myoclonic, 1B [RCV001365836]\|not specified [RCV004689664]	uncertain significance	12	42470251	42470251	Human	1	name
10396675	CV202707	single nucleotide variant	NM_153026.3(PRICKLE1):c.113C>T (p.Pro38Leu)	Epilepsy, progressive myoclonic, 1B [RCV001088362]\|not provided [RCV000188734]\|not specified [RCV004020284]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	42472404	42472404	Human	1	name
155975062	CV2031884	single nucleotide variant	NM_153026.3(PRICKLE1):c.2115C>T (p.Thr705=)	Epilepsy, progressive myoclonic, 1B [RCV002755063]	likely benign	12	42460190	42460190	Human	1	name
156087032	CV2034134	single nucleotide variant	NM_153026.3(PRICKLE1):c.1653T>C (p.Asp551=)	Epilepsy, progressive myoclonic, 1B [RCV002760811]	likely benign	12	42460652	42460652	Human	1	name
156311522	CV2063447	single nucleotide variant	NM_153026.3(PRICKLE1):c.2091C>G (p.Pro697=)	Epilepsy, progressive myoclonic, 1B [RCV002834150]	likely benign	12	42460214	42460214	Human	1	name
155921411	CV2073722	single nucleotide variant	NM_153026.3(PRICKLE1):c.220T>A (p.Tyr74Asn)	Epilepsy, progressive myoclonic, 1B [RCV002838334]	uncertain significance	12	42470272	42470272	Human	1	name
156106895	CV2089189	single nucleotide variant	NM_153026.3(PRICKLE1):c.1362G>A (p.Glu454=)	Epilepsy, progressive myoclonic, 1B [RCV002848290]	likely benign	12	42464672	42464672	Human	1	name
156237998	CV2090288	deletion	NM_153026.3(PRICKLE1):c.458del (p.Pro153fs)	Epilepsy, progressive myoclonic, 1B [RCV002894807]	uncertain significance	12	42468756	42468756	Human	1	name
156325664	CV2098262	single nucleotide variant	NM_153026.3(PRICKLE1):c.1281C>T (p.Leu427=)	Epilepsy, progressive myoclonic, 1B [RCV002899613]	likely benign	12	42464753	42464753	Human	1	name
156190146	CV2098954	single nucleotide variant	NM_153026.3(PRICKLE1):c.1608G>T (p.Ser536=)	Epilepsy, progressive myoclonic, 1B [RCV002917422]	likely benign	12	42464426	42464426	Human	1	name
156126781	CV2112375	single nucleotide variant	NM_153026.3(PRICKLE1):c.1884C>G (p.Pro628=)	Epilepsy, progressive myoclonic, 1B [RCV002928036]	likely benign	12	42460421	42460421	Human	1	name
156390397	CV2122431	single nucleotide variant	NM_153026.3(PRICKLE1):c.1824G>T (p.Leu608=)	Epilepsy, progressive myoclonic, 1B [RCV002943840]	likely benign	12	42460481	42460481	Human	1	name
155993123	CV2147731	single nucleotide variant	NM_153026.3(PRICKLE1):c.274G>A (p.Glu92Lys)	Epilepsy, progressive myoclonic, 1B [RCV003016925]	uncertain significance	12	42469560	42469560	Human	1	name
156188855	CV2148576	single nucleotide variant	NM_153026.3(PRICKLE1):c.1866C>G (p.Ser622=)	Epilepsy, progressive myoclonic, 1B [RCV003005937]	likely benign	12	42460439	42460439	Human	1	name
155969104	CV2152414	single nucleotide variant	NM_153026.3(PRICKLE1):c.1050C>T (p.Leu350=)	Epilepsy, progressive myoclonic, 1B [RCV003015846]	likely benign	12	42464984	42464984	Human	1	name
156116617	CV2182972	single nucleotide variant	NM_153026.3(PRICKLE1):c.154T>G (p.Leu52Val)	Epilepsy, progressive myoclonic, 1B [RCV003039150]	uncertain significance	12	42470338	42470338	Human	1	name
11347468	CV241552	single nucleotide variant	NM_153026.3(PRICKLE1):c.2316G>A (p.Ser772=)	Epilepsy, progressive myoclonic, 1B [RCV000232246]\|PRICKLE1-related disorder [RCV003939900]\|not specified [RCV004020897]	likely benign\|uncertain significance	12	42459989	42459989	Human	2	name , trait , alternate_id
405073806	CV2866392	single nucleotide variant	NM_153026.3(PRICKLE1):c.1323G>A (p.Glu441=)	Epilepsy, progressive myoclonic, 1B [RCV003524015]	likely benign	12	42464711	42464711	Human	1	name
405076397	CV2874312	single nucleotide variant	NM_153026.3(PRICKLE1):c.1260C>T (p.Leu420=)	Epilepsy, progressive myoclonic, 1B [RCV003524187]	likely benign	12	42464774	42464774	Human	1	name
405077177	CV2874980	single nucleotide variant	NM_153026.3(PRICKLE1):c.1875A>G (p.Gln625=)	Epilepsy, progressive myoclonic, 1B [RCV003524244]	likely benign	12	42460430	42460430	Human	1	name
405068292	CV2900646	single nucleotide variant	NM_153026.3(PRICKLE1):c.2406A>T (p.Pro802=)	Epilepsy, progressive myoclonic, 1B [RCV003523637]	likely benign	12	42459899	42459899	Human	1	name
404988130	CV2918183	single nucleotide variant	NM_153026.3(PRICKLE1):c.1557T>C (p.Asp519=)	Epilepsy, progressive myoclonic, 1B [RCV003524759]	likely benign	12	42464477	42464477	Human	1	name
405060077	CV2933777	single nucleotide variant	NM_153026.3(PRICKLE1):c.191G>A (p.Gly64Glu)	Epilepsy, progressive myoclonic, 1B [RCV003522892]	uncertain significance	12	42470301	42470301	Human	1	name
405073503	CV3042990	single nucleotide variant	NM_153026.3(PRICKLE1):c.2118C>T (p.Pro706=)	Epilepsy, progressive myoclonic, 1B [RCV003633285]	likely benign	12	42460187	42460187	Human	1	name
405074847	CV3047745	single nucleotide variant	NM_153026.3(PRICKLE1):c.1095C>A (p.Gly365=)	Epilepsy, progressive myoclonic, 1B [RCV003633383]	likely benign	12	42464939	42464939	Human	1	name
405266814	CV3213231	single nucleotide variant	NM_153026.3(PRICKLE1):c.1440G>A (p.Leu480=)	PRICKLE1-related disorder [RCV003969370]	likely benign	12	42464594	42464594	Human		name , trait , alternate_id
405670309	CV3378093	single nucleotide variant	NM_153026.3(PRICKLE1):c.136C>A (p.Gln46Lys)	not specified [RCV004515018]	uncertain significance	12	42470356	42470356	Human		name
12845104	CV372287	single nucleotide variant	NM_153026.3(PRICKLE1):c.2127T>C (p.Tyr709=)	not specified [RCV000439208]	likely benign	12	42460178	42460178	Human		name
12842140	CV373027	single nucleotide variant	NM_153026.3(PRICKLE1):c.1869G>A (p.Lys623=)	Epilepsy, progressive myoclonic, 1B [RCV000862564]\|not provided [RCV004703975]\|not specified [RCV000433882]	benign\|likely benign	12	42460436	42460436	Human	1	name
12847006	CV373033	single nucleotide variant	NM_153026.3(PRICKLE1):c.1647G>A (p.Ser549=)	Epilepsy, progressive myoclonic, 1B [RCV000865603]\|PRICKLE1-related disorder [RCV003972578]\|not provided [RCV003392236]\|not specified [RCV000442718]	benign\|likely benign	12	42460658	42460658	Human	2	name , trait , alternate_id
12850377	CV373035	single nucleotide variant	NM_153026.3(PRICKLE1):c.1629C>T (p.Ser543=)	Epilepsy, progressive myoclonic, 1B [RCV000862773]\|PRICKLE1-related disorder [RCV003950364]\|not specified [RCV000433467]	likely benign	12	42464405	42464405	Human	2	name , trait , alternate_id
12836066	CV373037	single nucleotide variant	NM_153026.3(PRICKLE1):c.1176T>C (p.Phe392=)	Epilepsy, progressive myoclonic, 1B [RCV000476233]\|not specified [RCV000422763]	benign\|likely benign	12	42464858	42464858	Human	1	name
12843503	CV373251	single nucleotide variant	NM_153026.3(PRICKLE1):c.2064T>C (p.Asn688=)	Epilepsy, progressive myoclonic, 1B [RCV000474118]\|PRICKLE1-related disorder [RCV003959926]\|not specified [RCV000436335]	likely benign	12	42460241	42460241	Human	2	name , trait , alternate_id
12843562	CV373255	single nucleotide variant	NM_153026.3(PRICKLE1):c.1563G>A (p.Leu521=)	Epilepsy, progressive myoclonic, 1B [RCV002062676]\|PRICKLE1-related disorder [RCV003897884]\|not specified [RCV000436437]	likely benign	12	42464471	42464471	Human	2	name , trait , alternate_id
12844386	CV373260	single nucleotide variant	NM_153026.3(PRICKLE1):c.1359C>T (p.Thr453=)	Epilepsy, progressive myoclonic, 1B [RCV002065014]\|not specified [RCV000437900]	likely benign	12	42464675	42464675	Human	1	name
597838978	CV3736955	single nucleotide variant	NM_153026.3(PRICKLE1):c.1996A>C (p.Arg666=)	Epilepsy, progressive myoclonic, 1B [RCV005064435]	likely benign	12	42460309	42460309	Human	1	name
597928616	CV3749159	single nucleotide variant	NM_153026.3(PRICKLE1):c.1386T>C (p.Leu462=)	Epilepsy, progressive myoclonic, 1B [RCV005075615]	likely benign	12	42464648	42464648	Human	1	name
12846665	CV375095	single nucleotide variant	NM_153026.3(PRICKLE1):c.2205C>T (p.Ala735=)	not specified [RCV000442072]	likely benign	12	42460100	42460100	Human		name
12839811	CV375109	single nucleotide variant	NM_153026.3(PRICKLE1):c.2193C>T (p.Tyr731=)	Epilepsy, progressive myoclonic, 1B [RCV000862648]\|not specified [RCV000429522]	likely benign	12	42460112	42460112	Human	1	name
12834154	CV375113	single nucleotide variant	NM_153026.3(PRICKLE1):c.1023G>C (p.Arg341=)	not specified [RCV000419866]	likely benign	12	42465011	42465011	Human		name
597910057	CV3782075	single nucleotide variant	NM_153026.3(PRICKLE1):c.1998G>A (p.Arg666=)	Epilepsy, progressive myoclonic, 1B [RCV005128567]	likely benign	12	42460307	42460307	Human	1	name
597879281	CV3786860	single nucleotide variant	NM_153026.3(PRICKLE1):c.1059G>T (p.Ser353=)	Epilepsy, progressive myoclonic, 1B [RCV005123936]	likely benign	12	42464975	42464975	Human	1	name
597918619	CV3789767	single nucleotide variant	NM_153026.3(PRICKLE1):c.2073A>G (p.Thr691=)	Epilepsy, progressive myoclonic, 1B [RCV005129862]	likely benign	12	42460232	42460232	Human	1	name
597965475	CV3797179	single nucleotide variant	NM_153026.3(PRICKLE1):c.2400T>C (p.Ser800=)	Epilepsy, progressive myoclonic, 1B [RCV005140138]	likely benign	12	42459905	42459905	Human	1	name
597973626	CV3820615	single nucleotide variant	NM_153026.3(PRICKLE1):c.2421C>A (p.Thr807=)	Epilepsy, progressive myoclonic, 1B [RCV005168132]	likely benign	12	42459884	42459884	Human	1	name
597891262	CV3836026	single nucleotide variant	NM_153026.3(PRICKLE1):c.1590G>A (p.Glu530=)	Epilepsy, progressive myoclonic, 1B [RCV005179799]	likely benign	12	42464444	42464444	Human	1	name
597913776	CV3851043	single nucleotide variant	NM_153026.3(PRICKLE1):c.1050C>G (p.Leu350=)	Epilepsy, progressive myoclonic, 1B [RCV005204011]	likely benign	12	42464984	42464984	Human	1	name
597900257	CV3854997	single nucleotide variant	NM_153026.3(PRICKLE1):c.2304C>T (p.Ser768=)	Epilepsy, progressive myoclonic, 1B [RCV005201906]	likely benign	12	42460001	42460001	Human	1	name
12888557	CV399456	single nucleotide variant	NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=)	Epilepsy, progressive myoclonic, 1B [RCV000471128]\|not provided [RCV000828448]\|not specified [RCV004023027]	likely benign	12	42459866	42459866	Human	1	name
12899561	CV408655	single nucleotide variant	NM_153026.3(PRICKLE1):c.101C>T (p.Ala34Val)	Epilepsy, progressive myoclonic, 1B [RCV002526984]\|not provided [RCV000480478]	uncertain significance	12	42472416	42472416	Human	1	name
12898760	CV408656	single nucleotide variant	NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr)	Epilepsy, progressive myoclonic, 1B [RCV001865431]\|Self-limited epilepsy with centrotemporal spikes [RCV000656032]\|not provided [RCV000478636]	pathogenic\|uncertain significance	12	42472417	42472417	Human	3	name
13495487	CV462445	single nucleotide variant	NM_153026.3(PRICKLE1):c.1989T>C (p.Phe663=)	Epilepsy, progressive myoclonic, 1B [RCV000537172]	likely benign	12	42460316	42460316	Human	1	name
13524034	CV493092	single nucleotide variant	NM_153026.3(PRICKLE1):c.2043C>T (p.Ser681=)	not provided [RCV000593751]	uncertain significance	12	42460262	42460262	Human		name
13531212	CV503868	single nucleotide variant	NM_153026.3(PRICKLE1):c.2091C>T (p.Pro697=)	Epilepsy, progressive myoclonic, 1B [RCV002063221]\|not specified [RCV000606395]	likely benign	12	42460214	42460214	Human	1	name
13540737	CV504156	single nucleotide variant	NM_153026.3(PRICKLE1):c.2265C>T (p.Tyr755=)	Epilepsy, progressive myoclonic, 1B [RCV001478505]\|not specified [RCV000615129]	likely benign	12	42460040	42460040	Human	1	name
13535175	CV504422	single nucleotide variant	NM_153026.3(PRICKLE1):c.2310C>T (p.Ser770=)	not specified [RCV000602158]	likely benign	12	42459995	42459995	Human		name
13541462	CV504424	single nucleotide variant	NM_153026.3(PRICKLE1):c.2178G>A (p.Gln726=)	Epilepsy, progressive myoclonic, 1B [RCV000983557]\|not provided [RCV003389818]\|not specified [RCV000616193]	likely benign	12	42460127	42460127	Human	1	name
13526255	CV504856	single nucleotide variant	NM_153026.3(PRICKLE1):c.1497A>G (p.Glu499=)	Epilepsy, progressive myoclonic, 1B [RCV003522996]\|not specified [RCV000603893]	likely benign	12	42464537	42464537	Human	1	name
13618387	CV527669	single nucleotide variant	NM_153026.3(PRICKLE1):c.1686T>G (p.Ser562=)	Epilepsy, progressive myoclonic, 1B [RCV000646048]	likely benign	12	42460619	42460619	Human	1	name
13618392	CV527688	single nucleotide variant	NM_153026.3(PRICKLE1):c.1284T>C (p.Phe428=)	Epilepsy, progressive myoclonic, 1B [RCV000646052]	likely benign	12	42464750	42464750	Human	1	name
14710410	CV641132	single nucleotide variant	NM_153026.3(PRICKLE1):c.206T>C (p.Ile69Thr)	Epilepsy, progressive myoclonic, 1B [RCV000793113]\|not specified [RCV004586926]	uncertain significance	12	42470286	42470286	Human	1	name
14709806	CV666944	insertion	NM_153026.3(PRICKLE1):c.247-248_247-247insG	not provided [RCV000827523]	benign	12	42469834	42469835	Human		name
15147837	CV687989	single nucleotide variant	NM_153026.3(PRICKLE1):c.2202C>T (p.Tyr734=)	Epilepsy, progressive myoclonic, 1B [RCV000866544]\|not specified [RCV004027672]	likely benign	12	42460103	42460103	Human	1	name
15153002	CV687990	single nucleotide variant	NM_153026.3(PRICKLE1):c.1608G>A (p.Ser536=)	Epilepsy, progressive myoclonic, 1B [RCV000867557]	likely benign	12	42464426	42464426	Human	1	name
15143380	CV687991	single nucleotide variant	NM_153026.3(PRICKLE1):c.1449T>C (p.Ser483=)	Epilepsy, progressive myoclonic, 1B [RCV000865722]	likely benign	12	42464585	42464585	Human	1	name
15146813	CV687992	single nucleotide variant	NM_153026.3(PRICKLE1):c.1440G>C (p.Leu480=)	Epilepsy, progressive myoclonic, 1B [RCV001414763]	likely benign	12	42464594	42464594	Human	1	name
15171424	CV769114	single nucleotide variant	NM_153026.3(PRICKLE1):c.2475C>G (p.Gly825=)	Epilepsy, progressive myoclonic, 1B [RCV002544404]	likely benign	12	42459830	42459830	Human	1	name
15144642	CV769115	single nucleotide variant	NM_153026.3(PRICKLE1):c.2160G>A (p.Glu720=)	Epilepsy, progressive myoclonic, 1B [RCV000944446]	likely benign	12	42460145	42460145	Human	1	name
15109823	CV769116	single nucleotide variant	NM_153026.3(PRICKLE1):c.1623A>T (p.Ala541=)	Epilepsy, progressive myoclonic, 1B [RCV001445772]	likely benign	12	42464411	42464411	Human	1	name
15116148	CV784385	single nucleotide variant	NM_153026.3(PRICKLE1):c.1629C>A (p.Ser543=)	Epilepsy, progressive myoclonic, 1B [RCV001409163]	likely benign	12	42464405	42464405	Human	1	name
15124949	CV784386	single nucleotide variant	NM_153026.3(PRICKLE1):c.1470C>A (p.Gly490=)	Epilepsy, progressive myoclonic, 1B [RCV001406079]	likely benign	12	42464564	42464564	Human	1	name
26915384	CV839926	single nucleotide variant	NM_153026.3(PRICKLE1):c.214C>G (p.Leu72Val)	Epilepsy, progressive myoclonic, 1B [RCV001041322]	uncertain significance	12	42470278	42470278	Human	1	name
38491873	CV926629	deletion	NM_153026.3(PRICKLE1):c.473del (p.Cys158fs)	Epilepsy, progressive myoclonic, 1B [RCV001223145]	uncertain significance	12	42468741	42468741	Human	1	name
38466724	CV936122	single nucleotide variant	NM_153026.3(PRICKLE1):c.205A>G (p.Ile69Val)	Epilepsy, progressive myoclonic, 1B [RCV001201906]	uncertain significance	12	42470287	42470287	Human	1	name
40815115	CV970960	single nucleotide variant	NM_153026.3(PRICKLE1):c.128A>G (p.Glu43Gly)	Epilepsy, progressive myoclonic, 1B [RCV001262445]	likely pathogenic\|uncertain significance	12	42472389	42472389	Human	1	name
126760370	CV995199	single nucleotide variant	NM_153026.3(PRICKLE1):c.1443C>T (p.Gly481=)	Epilepsy, progressive myoclonic, 1B [RCV001299774]\|not specified [RCV004036151]	likely benign\|uncertain significance	12	42464591	42464591	Human	1	name
126732625	CV995202	duplication	NM_153026.3(PRICKLE1):c.949dup (p.Ser317fs)	Epilepsy, progressive myoclonic, 1B [RCV001304116]	uncertain significance	12	42465084	42465085	Human	1	name
126730293	CV995204	single nucleotide variant	NM_153026.3(PRICKLE1):c.250C>T (p.Arg84Trp)	Epilepsy, progressive myoclonic, 1B [RCV001303710]	uncertain significance	12	42469584	42469584	Human	1	name
126754432	CV1010436	single nucleotide variant	NM_153026.3(PRICKLE1):c.641A>C (p.Lys214Thr)	Epilepsy, progressive myoclonic, 1B [RCV001327508]	uncertain significance	12	42466328	42466328	Human	1	name
126771738	CV1030936	single nucleotide variant	NM_153026.3(PRICKLE1):c.689A>G (p.Tyr230Cys)	Epilepsy, progressive myoclonic, 1B [RCV001345215]	uncertain significance	12	42466280	42466280	Human	1	name
126735020	CV1030937	single nucleotide variant	NM_153026.3(PRICKLE1):c.586G>A (p.Glu196Lys)	Epilepsy, progressive myoclonic, 1B [RCV001350035]	uncertain significance	12	42468628	42468628	Human	1	name
126766261	CV1030938	single nucleotide variant	NM_153026.3(PRICKLE1):c.415G>A (p.Ala139Thr)	Epilepsy, progressive myoclonic, 1B [RCV001342354]	uncertain significance	12	42468799	42468799	Human	1	name
126763907	CV1030939	single nucleotide variant	NM_153026.3(PRICKLE1):c.352T>C (p.Ser118Pro)	Epilepsy, progressive myoclonic, 1B [RCV001341460]	uncertain significance	12	42469482	42469482	Human	1	name
126910212	CV1047939	single nucleotide variant	NM_153026.3(PRICKLE1):c.656T>C (p.Leu219Pro)	Epilepsy, progressive myoclonic, 1B [RCV001368814]	uncertain significance	12	42466313	42466313	Human	1	name
126908028	CV1047940	single nucleotide variant	NM_153026.3(PRICKLE1):c.568C>T (p.Arg190Trp)	Epilepsy, progressive myoclonic, 1B [RCV001367506]	uncertain significance	12	42468646	42468646	Human	1	name
150545585	CV1315775	single nucleotide variant	NM_153026.3(PRICKLE1):c.910A>C (p.Lys304Gln)	Epilepsy, progressive myoclonic, 1B [RCV002034614]\|not provided [RCV001784106]	uncertain significance	12	42465124	42465124	Human	1	name
151847228	CV1339233	single nucleotide variant	NM_153026.3(PRICKLE1):c.997A>G (p.Ser333Gly)	Epilepsy, progressive myoclonic, 1B [RCV001995494]	uncertain significance	12	42465037	42465037	Human	1	name
8660432	CV135473	single nucleotide variant	NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr)	Epilepsy, progressive myoclonic, 1B [RCV000313184]\|Self-limited epilepsy with centrotemporal spikes [RCV000656031]\|not provided [RCV004707980]\|not specified [RCV000118053]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	12	42469464	42469464	Human	3	name
8660433	CV135474	single nucleotide variant	NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala)	Epilepsy, progressive myoclonic, 1B [RCV000400769]\|PRICKLE1-related disorder [RCV003925152]\|not provided [RCV004707981]\|not specified [RCV000118054]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	12	42469460	42469460	Human	2	name , trait , alternate_id
151841070	CV1361215	single nucleotide variant	NM_153026.3(PRICKLE1):c.739T>C (p.Tyr247His)	Epilepsy, progressive myoclonic, 1B [RCV001881358]	uncertain significance	12	42466230	42466230	Human	1	name
151813492	CV1367849	single nucleotide variant	NM_153026.3(PRICKLE1):c.857C>A (p.Ala286Asp)	Epilepsy, progressive myoclonic, 1B [RCV001878504]	uncertain significance	12	42465177	42465177	Human	1	name
151714161	CV1379782	single nucleotide variant	NM_153026.3(PRICKLE1):c.986A>G (p.Asp329Gly)	Epilepsy, progressive myoclonic, 1B [RCV001964889]	uncertain significance	12	42465048	42465048	Human	1	name
151837189	CV1383204	single nucleotide variant	NM_153026.3(PRICKLE1):c.778G>A (p.Val260Met)	Epilepsy, progressive myoclonic, 1B [RCV001935679]	uncertain significance	12	42465256	42465256	Human	1	name
151889714	CV1394547	single nucleotide variant	NM_153026.3(PRICKLE1):c.820G>C (p.Ala274Pro)	Epilepsy, progressive myoclonic, 1B [RCV001888239]	uncertain significance	12	42465214	42465214	Human	1	name
151713372	CV1394779	single nucleotide variant	NM_153026.3(PRICKLE1):c.406G>A (p.Gly136Ser)	Epilepsy, progressive myoclonic, 1B [RCV001889844]	uncertain significance	12	42468808	42468808	Human	1	name
151746191	CV1402678	single nucleotide variant	NM_153026.3(PRICKLE1):c.499G>A (p.Asp167Asn)	Epilepsy, progressive myoclonic, 1B [RCV001912447]	uncertain significance	12	42468715	42468715	Human	1	name
151791084	CV1402908	single nucleotide variant	NM_153026.3(PRICKLE1):c.439C>T (p.Pro147Ser)	Epilepsy, progressive myoclonic, 1B [RCV001898187]	uncertain significance	12	42468775	42468775	Human	1	name
151825080	CV1404174	single nucleotide variant	NM_153026.3(PRICKLE1):c.431G>T (p.Arg144Leu)	Epilepsy, progressive myoclonic, 1B [RCV001976109]	uncertain significance	12	42468783	42468783	Human	1	name
151743109	CV1405155	single nucleotide variant	NM_153026.3(PRICKLE1):c.604G>A (p.Glu202Lys)	Epilepsy, progressive myoclonic, 1B [RCV001947296]	uncertain significance	12	42466365	42466365	Human	1	name
151729516	CV1410139	single nucleotide variant	NM_153026.3(PRICKLE1):c.773T>C (p.Ile258Thr)	Epilepsy, progressive myoclonic, 1B [RCV001910717]	uncertain significance	12	42466196	42466196	Human	1	name
151721315	CV1421006	single nucleotide variant	NM_153026.3(PRICKLE1):c.987C>G (p.Asp329Glu)	Epilepsy, progressive myoclonic, 1B [RCV002040122]	uncertain significance	12	42465047	42465047	Human	1	name
151760583	CV1497263	single nucleotide variant	NM_153026.3(PRICKLE1):c.446T>C (p.Val149Ala)	Epilepsy, progressive myoclonic, 1B [RCV001987222]	uncertain significance	12	42468768	42468768	Human	1	name
8556718	CV17322	single nucleotide variant	NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)	Epilepsy, progressive myoclonic, 1B [RCV000002373]\|not provided [RCV000431708]	pathogenic\|likely pathogenic	12	42469523	42469523	Human	1	name
9693668	CV178388	single nucleotide variant	NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met)	Epilepsy, progressive myoclonic, 1B [RCV000157058]\|PRICKLE1-related disorder [RCV004754322]\|not provided [RCV000725886]\|not specified [RCV003330514]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	42465210	42465210	Human	2	name , trait , alternate_id
155663745	CV1785783	single nucleotide variant	NM_153026.3(PRICKLE1):c.337A>G (p.Thr113Ala)	not specified [RCV004047868]	uncertain significance	12	42469497	42469497	Human		name
155803565	CV1858127	single nucleotide variant	NM_153026.3(PRICKLE1):c.845C>T (p.Ala282Val)	not provided [RCV002462436]	uncertain significance	12	42465189	42465189	Human		name
156406790	CV1891351	single nucleotide variant	NM_153026.3(PRICKLE1):c.817C>T (p.His273Tyr)	Epilepsy, progressive myoclonic, 1B [RCV003070498]	uncertain significance	12	42465217	42465217	Human	1	name
10052595	CV195041	single nucleotide variant	NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val)	Epilepsy, progressive myoclonic, 1B [RCV000475800]\|not provided [RCV000179021]\|not specified [RCV004020136]	uncertain significance	12	42468780	42468780	Human	1	name
156135443	CV1977236	single nucleotide variant	NM_153026.3(PRICKLE1):c.764G>A (p.Gly255Glu)	Epilepsy, progressive myoclonic, 1B [RCV002593643]\|not specified [RCV004065597]	uncertain significance	12	42466205	42466205	Human	1	name
156104335	CV2008307	single nucleotide variant	NM_153026.3(PRICKLE1):c.772A>G (p.Ile258Val)	Epilepsy, progressive myoclonic, 1B [RCV002695423]	uncertain significance	12	42466197	42466197	Human	1	name
10396677	CV202700	single nucleotide variant	NM_153026.3(PRICKLE1):c.910A>G (p.Lys304Glu)	not provided [RCV000188740]	uncertain significance	12	42465124	42465124	Human		name
10397962	CV202701	single nucleotide variant	NM_153026.3(PRICKLE1):c.713T>C (p.Phe238Ser)	Epilepsy, progressive myoclonic, 1B [RCV001857643]\|not provided [RCV000188739]	uncertain significance	12	42466256	42466256	Human	1	name
10397961	CV202702	single nucleotide variant	NM_153026.2(PRICKLE1):c.427T>G (p.Ser143Ala)	not provided [RCV000188737]	likely pathogenic	12	42468787	42468787	Human		name
10397960	CV202703	single nucleotide variant	NM_153026.3(PRICKLE1):c.425C>T (p.Ala142Val)	not provided [RCV000188736]	uncertain significance	12	42468789	42468789	Human		name
10396669	CV202704	single nucleotide variant	NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val)	Epilepsy, progressive myoclonic, 1B [RCV000525462]\|PRICKLE1-related disorder [RCV003407689]\|not provided [RCV000188726]\|not specified [RCV004020281]	likely benign\|uncertain significance	12	42468823	42468823	Human	2	name , trait , alternate_id
156269666	CV2059772	single nucleotide variant	NM_153026.3(PRICKLE1):c.838T>G (p.Ser280Ala)	Epilepsy, progressive myoclonic, 1B [RCV002806615]	uncertain significance	12	42465196	42465196	Human	1	name
155942008	CV2114966	single nucleotide variant	NM_153026.3(PRICKLE1):c.718T>A (p.Cys240Ser)	Epilepsy, progressive myoclonic, 1B [RCV002904534]	uncertain significance	12	42466251	42466251	Human	1	name
156367025	CV2130727	single nucleotide variant	NM_153026.3(PRICKLE1):c.740A>G (p.Tyr247Cys)	Epilepsy, progressive myoclonic, 1B [RCV002967379]	uncertain significance	12	42466229	42466229	Human	1	name
156311639	CV2164143	single nucleotide variant	NM_153026.3(PRICKLE1):c.746A>C (p.Glu249Ala)	Epilepsy, progressive myoclonic, 1B [RCV003046063]	uncertain significance	12	42466223	42466223	Human	1	name
156207149	CV2179400	single nucleotide variant	NM_153026.3(PRICKLE1):c.341T>C (p.Ile114Thr)	Epilepsy, progressive myoclonic, 1B [RCV003024667]	uncertain significance	12	42469493	42469493	Human	1	name
156045601	CV2186423	single nucleotide variant	NM_153026.3(PRICKLE1):c.611C>T (p.Thr204Ile)	Epilepsy, progressive myoclonic, 1B [RCV003036729]	uncertain significance	12	42466358	42466358	Human	1	name
156171829	CV2188230	single nucleotide variant	NM_153026.3(PRICKLE1):c.399A>G (p.Ile133Met)	Epilepsy, progressive myoclonic, 1B [RCV003041056]	uncertain significance	12	42468815	42468815	Human	1	name
155964505	CV2308391	single nucleotide variant	NM_153026.3(PRICKLE1):c.469G>T (p.Val157Phe)	not specified [RCV004164865]	uncertain significance	12	42468745	42468745	Human		name
11642310	CV270850	single nucleotide variant	NM_153026.3(PRICKLE1):c.920G>A (p.Ser307Asn)	not provided [RCV000371660]	uncertain significance	12	42465114	42465114	Human		name
404989850	CV2882512	single nucleotide variant	NM_153026.3(PRICKLE1):c.373G>A (p.Val125Met)	Epilepsy, progressive myoclonic, 1B [RCV003524903]	benign	12	42469461	42469461	Human	1	name
11665176	CV330914	single nucleotide variant	NM_153026.3(PRICKLE1):c.649T>C (p.Cys217Arg)	Epilepsy, progressive myoclonic, 1B [RCV000398777]\|not provided [RCV003884458]	uncertain significance	12	42466320	42466320	Human	1	name
405670324	CV3378096	single nucleotide variant	NM_153026.3(PRICKLE1):c.539G>T (p.Gly180Val)	not specified [RCV004515021]	uncertain significance	12	42468675	42468675	Human		name
407465261	CV3464269	single nucleotide variant	NM_153026.3(PRICKLE1):c.889C>A (p.Gln297Lys)	not specified [RCV004660163]	uncertain significance	12	42465145	42465145	Human		name
408382560	CV3525684	single nucleotide variant	NM_153026.3(PRICKLE1):c.820G>A (p.Ala274Thr)	not specified [RCV004766594]	uncertain significance	12	42465214	42465214	Human		name
597748710	CV3581379	single nucleotide variant	NM_153026.3(PRICKLE1):c.859T>G (p.Ser287Ala)	not specified [RCV004846105]	uncertain significance	12	42465175	42465175	Human		name
597858334	CV3755827	single nucleotide variant	NM_153026.3(PRICKLE1):c.310C>T (p.Arg104Trp)	Epilepsy, progressive myoclonic, 1B [RCV005088978]	uncertain significance	12	42469524	42469524	Human	1	name
598180252	CV3904371	single nucleotide variant	NM_153026.3(PRICKLE1):c.670G>A (p.Val224Ile)	not specified [RCV005264992]	uncertain significance	12	42466299	42466299	Human		name
8568546	CV39686	single nucleotide variant	NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His)	Epilepsy, progressive myoclonic, 1B [RCV000023707]\|not provided [RCV000188738]\|not specified [RCV004018670]	pathogenic\|uncertain significance	12	42468783	42468783	Human	1	name
12884047	CV399142	single nucleotide variant	NM_153026.3(PRICKLE1):c.992G>A (p.Arg331Gln)	Epilepsy, progressive myoclonic, 1B [RCV000462752]\|not provided [RCV005243236]\|not specified [RCV004022810]	uncertain significance	12	42465042	42465042	Human	1	name
12882725	CV399143	single nucleotide variant	NM_153026.3(PRICKLE1):c.424G>A (p.Ala142Thr)	Epilepsy, progressive myoclonic, 1B [RCV000460208]\|not specified [RCV004847744]	uncertain significance	12	42468790	42468790	Human	1	name
13474110	CV444996	single nucleotide variant	NM_153026.3(PRICKLE1):c.853A>C (p.Lys285Gln)	Epilepsy, progressive myoclonic, 1B [RCV000792650]\|not provided [RCV000519556]	uncertain significance	12	42465181	42465181	Human	1	name
13486664	CV462164	single nucleotide variant	NM_153026.3(PRICKLE1):c.776G>A (p.Gly259Asp)	Epilepsy, progressive myoclonic, 1B [RCV000553848]	uncertain significance	12	42465258	42465258	Human	1	name
13500282	CV462174	single nucleotide variant	NM_153026.3(PRICKLE1):c.400A>C (p.Asn134His)	Epilepsy, progressive myoclonic, 1B [RCV000540316]	uncertain significance	12	42468814	42468814	Human	1	name
13497956	CV463097	single nucleotide variant	NM_153026.3(PRICKLE1):c.625C>T (p.Arg209Cys)	Epilepsy, progressive myoclonic, 1B [RCV000538936]\|not specified [RCV004024092]	uncertain significance	12	42466344	42466344	Human	1	name
13518391	CV491613	single nucleotide variant	NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser)	Epilepsy, progressive myoclonic, 1B [RCV001219523]\|Intellectual disability [RCV001252362]\|not provided [RCV000597357]\|not specified [RCV004024783]	likely benign\|uncertain significance	12	42466266	42466266	Human	3	name
13515629	CV493645	single nucleotide variant	NM_153026.3(PRICKLE1):c.808C>A (p.Gln270Lys)	Epilepsy, progressive myoclonic, 1B [RCV001225021]\|not provided [RCV000594518]	uncertain significance	12	42465226	42465226	Human	1	name
13618377	CV527436	single nucleotide variant	NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met)	Epilepsy, progressive myoclonic, 1B [RCV000646041]\|not provided [RCV000712848]	uncertain significance	12	42466301	42466301	Human	1	name
13809639	CV565476	single nucleotide variant	NM_153026.3(PRICKLE1):c.448T>C (p.Cys150Arg)	Epilepsy, progressive myoclonic, 1B [RCV000687860]	uncertain significance	12	42468766	42468766	Human	1	name
13813391	CV566836	single nucleotide variant	NM_153026.3(PRICKLE1):c.743C>T (p.Ala248Val)	Epilepsy, progressive myoclonic, 1B [RCV000704334]	uncertain significance	12	42466226	42466226	Human	1	name
13814975	CV568044	single nucleotide variant	NM_153026.3(PRICKLE1):c.509A>G (p.Tyr170Cys)	Epilepsy, progressive myoclonic, 1B [RCV000691257]	uncertain significance	12	42468705	42468705	Human	1	name
13828811	CV579820	single nucleotide variant	NM_153026.3(PRICKLE1):c.699G>T (p.Lys233Asn)	Epilepsy, progressive myoclonic, 1B [RCV000814211]\|not specified [RCV004026858]	uncertain significance	12	42466270	42466270	Human	1	name
13830579	CV580083	single nucleotide variant	NM_153026.3(PRICKLE1):c.857C>T (p.Ala286Val)	not specified [RCV004026910]	uncertain significance	12	42465177	42465177	Human		name
14733950	CV641130	single nucleotide variant	NM_153026.3(PRICKLE1):c.914C>T (p.Thr305Met)	Epilepsy, progressive myoclonic, 1B [RCV000818913]\|not specified [RCV004028996]	uncertain significance	12	42465120	42465120	Human	1	name
14740079	CV641131	single nucleotide variant	NM_153026.3(PRICKLE1):c.445G>A (p.Val149Met)	Epilepsy, progressive myoclonic, 1B [RCV000805203]\|not specified [RCV004028210]	uncertain significance	12	42468769	42468769	Human	1	name
21067494	CV793423	single nucleotide variant	NM_153026.3(PRICKLE1):c.626G>A (p.Arg209His)	Epilepsy, progressive myoclonic, 1B [RCV001228290]\|not provided [RCV000992701]\|not specified [RCV004659284]	uncertain significance	12	42466343	42466343	Human	1	name
26921904	CV839917	single nucleotide variant	NM_153026.3(PRICKLE1):c.977G>A (p.Arg326Gln)	Epilepsy, progressive myoclonic, 1B [RCV001061411]	uncertain significance	12	42465057	42465057	Human	1	name
26892074	CV839918	single nucleotide variant	NM_153026.3(PRICKLE1):c.805G>A (p.Gly269Arg)	Epilepsy, progressive myoclonic, 1B [RCV001046747]\|not specified [RCV004031450]	uncertain significance	12	42465229	42465229	Human	1	name
26890764	CV839919	single nucleotide variant	NM_153026.3(PRICKLE1):c.706C>T (p.Arg236Cys)	Epilepsy, progressive myoclonic, 1B [RCV001067985]	uncertain significance	12	42466263	42466263	Human	1	name
26917494	CV839920	single nucleotide variant	NM_153026.3(PRICKLE1):c.601G>A (p.Asp201Asn)	Epilepsy, progressive myoclonic, 1B [RCV001042675]\|not specified [RCV004031294]	uncertain significance	12	42466368	42466368	Human	1	name
26889941	CV839921	single nucleotide variant	NM_153026.3(PRICKLE1):c.479C>T (p.Thr160Met)	Epilepsy, progressive myoclonic, 1B [RCV001067652]	uncertain significance	12	42468735	42468735	Human	1	name
26922466	CV839922	single nucleotide variant	NM_153026.3(PRICKLE1):c.433G>A (p.Ala145Thr)	Epilepsy, progressive myoclonic, 1B [RCV001062128]	uncertain significance	12	42468781	42468781	Human	1	name
26915217	CV839923	single nucleotide variant	NM_153026.3(PRICKLE1):c.428C>T (p.Ser143Phe)	Epilepsy, progressive myoclonic, 1B [RCV001041195]	uncertain significance	12	42468786	42468786	Human	1	name
26912792	CV839924	single nucleotide variant	NM_153026.3(PRICKLE1):c.356G>C (p.Arg119Thr)	Epilepsy, progressive myoclonic, 1B [RCV001039630]	uncertain significance	12	42469478	42469478	Human	1	name
26914602	CV839925	single nucleotide variant	NM_153026.3(PRICKLE1):c.319G>C (p.Glu107Gln)	Epilepsy, progressive myoclonic, 1B [RCV001055081]	uncertain significance	12	42469515	42469515	Human	1	name
38485345	CV926628	single nucleotide variant	NM_153026.3(PRICKLE1):c.707G>T (p.Arg236Leu)	Epilepsy, progressive myoclonic, 1B [RCV001219832]	uncertain significance	12	42466262	42466262	Human	1	name
38474776	CV926630	single nucleotide variant	NM_153026.3(PRICKLE1):c.461C>T (p.Ser154Phe)	Epilepsy, progressive myoclonic, 1B [RCV001214887]	uncertain significance	12	42468753	42468753	Human	1	name
38488300	CV936121	single nucleotide variant	NM_153026.3(PRICKLE1):c.430C>T (p.Arg144Cys)	Epilepsy, progressive myoclonic, 1B [RCV001209687]	uncertain significance	12	42468784	42468784	Human	1	name
38480456	CV948017	single nucleotide variant	NM_153026.3(PRICKLE1):c.898A>C (p.Ile300Leu)	Epilepsy, progressive myoclonic, 1B [RCV001234716]	uncertain significance	12	42465136	42465136	Human	1	name
38478890	CV948019	single nucleotide variant	NM_153026.3(PRICKLE1):c.320A>C (p.Glu107Ala)	Epilepsy, progressive myoclonic, 1B [RCV001234082]	uncertain significance	12	42469514	42469514	Human	1	name
38499472	CV956871	single nucleotide variant	NM_153026.3(PRICKLE1):c.364A>G (p.Met122Val)	Epilepsy, progressive myoclonic, 1B [RCV001244675]\|not specified [RCV004847789]	uncertain significance	12	42469470	42469470	Human	1	name
126756546	CV995203	single nucleotide variant	NM_153026.3(PRICKLE1):c.590T>C (p.Ile197Thr)	Epilepsy, progressive myoclonic, 1B [RCV001308144]	uncertain significance	12	42466379	42466379	Human	1	name
126773297	CV1010431	single nucleotide variant	NM_153026.3(PRICKLE1):c.2245A>C (p.Asn749His)	Epilepsy, progressive myoclonic, 1B [RCV001324250]	uncertain significance	12	42460060	42460060	Human	1	name
126734103	CV1010432	single nucleotide variant	NM_153026.3(PRICKLE1):c.2081A>G (p.Lys694Arg)	Epilepsy, progressive myoclonic, 1B [RCV001313510]	uncertain significance	12	42460224	42460224	Human	1	name
126772525	CV1010433	single nucleotide variant	NM_153026.3(PRICKLE1):c.1869G>C (p.Lys623Asn)	Epilepsy, progressive myoclonic, 1B [RCV001323804]	uncertain significance	12	42460436	42460436	Human	1	name
126756687	CV1010434	single nucleotide variant	NM_153026.3(PRICKLE1):c.1477A>C (p.Ser493Arg)	Epilepsy, progressive myoclonic, 1B [RCV001317266]	uncertain significance	12	42464557	42464557	Human	1	name
126744007	CV1010435	single nucleotide variant	NM_153026.3(PRICKLE1):c.1208A>G (p.Glu403Gly)	Epilepsy, progressive myoclonic, 1B [RCV001325703]	uncertain significance	12	42464826	42464826	Human	1	name
126764955	CV1030925	single nucleotide variant	NM_153026.3(PRICKLE1):c.2458A>C (p.Lys820Gln)	Epilepsy, progressive myoclonic, 1B [RCV001341849]	uncertain significance	12	42459847	42459847	Human	1	name
126730801	CV1030926	single nucleotide variant	NM_153026.3(PRICKLE1):c.2446A>G (p.Lys816Glu)	Epilepsy, progressive myoclonic, 1B [RCV001349322]	uncertain significance	12	42459859	42459859	Human	1	name
126771589	CV1030927	single nucleotide variant	NM_153026.3(PRICKLE1):c.2425C>G (p.Gln809Glu)	Epilepsy, progressive myoclonic, 1B [RCV001345134]	uncertain significance	12	42459880	42459880	Human	1	name
126765204	CV1030928	single nucleotide variant	NM_153026.3(PRICKLE1):c.2311G>A (p.Asp771Asn)	Epilepsy, progressive myoclonic, 1B [RCV001341941]\|not specified [RCV005057298]	uncertain significance	12	42459994	42459994	Human	1	name
126774586	CV1030929	single nucleotide variant	NM_153026.3(PRICKLE1):c.2225G>T (p.Gly742Val)	Epilepsy, progressive myoclonic, 1B [RCV001347396]	uncertain significance	12	42460080	42460080	Human	1	name
126756203	CV1030930	single nucleotide variant	NM_153026.3(PRICKLE1):c.2044C>T (p.Arg682Cys)	Epilepsy, progressive myoclonic, 1B [RCV001339214]\|not provided [RCV004590339]\|not specified [RCV003331122]	uncertain significance	12	42460261	42460261	Human	1	name
126739528	CV1030932	single nucleotide variant	NM_153026.3(PRICKLE1):c.1772G>C (p.Ser591Thr)	Epilepsy, progressive myoclonic, 1B [RCV001350619]\|not specified [RCV004036629]	uncertain significance	12	42460533	42460533	Human	1	name
126774802	CV1030933	single nucleotide variant	NM_153026.3(PRICKLE1):c.1543C>T (p.Gln515Ter)	Epilepsy, progressive myoclonic, 1B [RCV001347645]	uncertain significance	12	42464491	42464491	Human	1	name
126745594	CV1030934	single nucleotide variant	NM_153026.3(PRICKLE1):c.1330A>G (p.Ile444Val)	Epilepsy, progressive myoclonic, 1B [RCV001351420]	uncertain significance	12	42464704	42464704	Human	1	name
126741944	CV1030935	single nucleotide variant	NM_153026.3(PRICKLE1):c.1103A>G (p.Asp368Gly)	Epilepsy, progressive myoclonic, 1B [RCV001350946]	uncertain significance	12	42464931	42464931	Human	1	name
126922695	CV1047933	single nucleotide variant	NM_153026.3(PRICKLE1):c.2255T>C (p.Leu752Pro)	Epilepsy, progressive myoclonic, 1B [RCV001364972]	uncertain significance	12	42460050	42460050	Human	1	name
126922960	CV1047934	single nucleotide variant	NM_153026.3(PRICKLE1):c.2122A>G (p.Asn708Asp)	Epilepsy, progressive myoclonic, 1B [RCV001365299]	uncertain significance	12	42460183	42460183	Human	1	name
126919730	CV1047935	single nucleotide variant	NM_153026.3(PRICKLE1):c.1681T>C (p.Tyr561His)	Epilepsy, progressive myoclonic, 1B [RCV001362463]	uncertain significance	12	42460624	42460624	Human	1	name
126918973	CV1047936	single nucleotide variant	NM_153026.3(PRICKLE1):c.1406C>G (p.Ser469Cys)	Epilepsy, progressive myoclonic, 1B [RCV001362031]	uncertain significance	12	42464628	42464628	Human	1	name
126919609	CV1047937	single nucleotide variant	NM_153026.3(PRICKLE1):c.1313G>C (p.Arg438Pro)	Epilepsy, progressive myoclonic, 1B [RCV001362390]	uncertain significance	12	42464721	42464721	Human	1	name
126909740	CV1047938	single nucleotide variant	NM_153026.3(PRICKLE1):c.1012A>G (p.Lys338Glu)	Epilepsy, progressive myoclonic, 1B [RCV001368627]\|not provided [RCV004692657]	uncertain significance	12	42465022	42465022	Human	1	name
150453443	CV1203801	single nucleotide variant	NM_153026.3(PRICKLE1):c.2021G>A (p.Arg674His)	Epilepsy, progressive myoclonic, 1B [RCV001591757]	uncertain significance	12	42460284	42460284	Human	1	name
150545620	CV1315798	single nucleotide variant	NM_153026.3(PRICKLE1):c.1725G>T (p.Glu575Asp)	See cases [RCV001784129]	uncertain significance	12	42460580	42460580	Human		name
151877894	CV1337728	single nucleotide variant	NM_153026.3(PRICKLE1):c.2423C>T (p.Pro808Leu)	Epilepsy, progressive myoclonic, 1B [RCV001926053]	uncertain significance	12	42459882	42459882	Human	1	name
151877813	CV1342384	single nucleotide variant	NM_153026.3(PRICKLE1):c.1833G>C (p.Glu611Asp)	Epilepsy, progressive myoclonic, 1B [RCV001961261]	uncertain significance	12	42460472	42460472	Human	1	name
151732269	CV1351184	single nucleotide variant	NM_153026.3(PRICKLE1):c.1194G>T (p.Glu398Asp)	Epilepsy, progressive myoclonic, 1B [RCV002004909]	uncertain significance	12	42464840	42464840	Human	1	name
151802318	CV1351976	single nucleotide variant	NM_153026.3(PRICKLE1):c.2156G>T (p.Arg719Leu)	Epilepsy, progressive myoclonic, 1B [RCV002048095]	uncertain significance	12	42460149	42460149	Human	1	name
151830762	CV1354142	single nucleotide variant	NM_153026.3(PRICKLE1):c.1779G>T (p.Glu593Asp)	Epilepsy, progressive myoclonic, 1B [RCV001880288]	uncertain significance	12	42460526	42460526	Human	1	name
8660430	CV135471	single nucleotide variant	NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala)	Epilepsy, progressive myoclonic, 1B [RCV001085376]\|PRICKLE1-related disorder [RCV003945056]\|not provided [RCV000118051]\|not specified [RCV000186656]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	12	42460234	42460234	Human	2	name , trait , alternate_id
8660431	CV135472	single nucleotide variant	NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser)	Epilepsy, progressive myoclonic, 1B [RCV000333507]\|not provided [RCV001573093]\|not specified [RCV000118052]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	42460069	42460069	Human	1	name
151750429	CV1357472	single nucleotide variant	NM_153026.3(PRICKLE1):c.1978G>A (p.Val660Ile)	Epilepsy, progressive myoclonic, 1B [RCV001872201]\|not specified [RCV004039685]	uncertain significance	12	42460327	42460327	Human	1	name
151803026	CV1364647	single nucleotide variant	NM_153026.3(PRICKLE1):c.1942C>T (p.Arg648Trp)	Epilepsy, progressive myoclonic, 1B [RCV001991125]\|not provided [RCV003992597]	uncertain significance	12	42460363	42460363	Human	1	name
151778585	CV1370745	single nucleotide variant	NM_153026.3(PRICKLE1):c.1952C>T (p.Pro651Leu)	Epilepsy, progressive myoclonic, 1B [RCV001864751]	uncertain significance	12	42460353	42460353	Human	1	name
151747083	CV1371318	single nucleotide variant	NM_153026.3(PRICKLE1):c.1956G>T (p.Met652Ile)	Epilepsy, progressive myoclonic, 1B [RCV001947721]	uncertain significance	12	42460349	42460349	Human	1	name
151837304	CV1371573	single nucleotide variant	NM_153026.3(PRICKLE1):c.2413C>G (p.Leu805Val)	Epilepsy, progressive myoclonic, 1B [RCV001921122]	uncertain significance	12	42459892	42459892	Human	1	name
151870279	CV1375436	single nucleotide variant	NM_153026.3(PRICKLE1):c.1021C>T (p.Arg341Trp)	Epilepsy, progressive myoclonic, 1B [RCV001960330]	uncertain significance	12	42465013	42465013	Human	1	name
151879647	CV1388293	single nucleotide variant	NM_153026.3(PRICKLE1):c.1058C>T (p.Ser353Leu)	Epilepsy, progressive myoclonic, 1B [RCV001982346]	uncertain significance	12	42464976	42464976	Human	1	name
151711876	CV1396647	single nucleotide variant	NM_153026.3(PRICKLE1):c.1271A>G (p.Asp424Gly)	Epilepsy, progressive myoclonic, 1B [RCV001889555]	uncertain significance	12	42464763	42464763	Human	1	name
151723661	CV1425112	single nucleotide variant	NM_153026.3(PRICKLE1):c.1124T>C (p.Leu375Ser)	Epilepsy, progressive myoclonic, 1B [RCV001891451]	uncertain significance	12	42464910	42464910	Human	1	name
151739202	CV1437553	single nucleotide variant	NM_153026.3(PRICKLE1):c.2360G>A (p.Arg787Gln)	Epilepsy, progressive myoclonic, 1B [RCV001870849]	uncertain significance	12	42459945	42459945	Human	1	name
151816967	CV1441084	single nucleotide variant	NM_153026.3(PRICKLE1):c.2120A>G (p.Asp707Gly)	Epilepsy, progressive myoclonic, 1B [RCV001933766]	uncertain significance	12	42460185	42460185	Human	1	name
151722623	CV1442591	single nucleotide variant	NM_153026.3(PRICKLE1):c.1258C>T (p.Leu420Phe)	Epilepsy, progressive myoclonic, 1B [RCV002040289]	uncertain significance	12	42464776	42464776	Human	1	name
151793155	CV1467608	single nucleotide variant	NM_153026.3(PRICKLE1):c.1192G>C (p.Glu398Gln)	Epilepsy, progressive myoclonic, 1B [RCV001931612]	uncertain significance	12	42464842	42464842	Human	1	name
151779739	CV1467696	single nucleotide variant	NM_153026.3(PRICKLE1):c.1474G>A (p.Ala492Thr)	Epilepsy, progressive myoclonic, 1B [RCV001971969]\|not specified [RCV004041982]	uncertain significance	12	42464560	42464560	Human	1	name
151888781	CV1468477	single nucleotide variant	NM_153026.3(PRICKLE1):c.2218G>T (p.Asp740Tyr)	Epilepsy, progressive myoclonic, 1B [RCV002001154]	uncertain significance	12	42460087	42460087	Human	1	name
151837026	CV1469734	single nucleotide variant	NM_153026.3(PRICKLE1):c.2459A>G (p.Lys820Arg)	Epilepsy, progressive myoclonic, 1B [RCV001880904]	uncertain significance	12	42459846	42459846	Human	1	name
151801047	CV1475058	single nucleotide variant	NM_153026.3(PRICKLE1):c.1688T>C (p.Leu563Pro)	Epilepsy, progressive myoclonic, 1B [RCV001952930]	uncertain significance	12	42460617	42460617	Human	1	name
151883619	CV1476647	single nucleotide variant	NM_153026.3(PRICKLE1):c.1646C>T (p.Ser549Leu)	Epilepsy, progressive myoclonic, 1B [RCV001886976]	uncertain significance	12	42460659	42460659	Human	1	name
151805648	CV1482115	single nucleotide variant	NM_153026.3(PRICKLE1):c.1943G>A (p.Arg648Gln)	Epilepsy, progressive myoclonic, 1B [RCV002048382]	uncertain significance	12	42460362	42460362	Human	1	name
151815767	CV1485632	single nucleotide variant	NM_153026.3(PRICKLE1):c.2465G>T (p.Gly822Val)	Epilepsy, progressive myoclonic, 1B [RCV002029407]	uncertain significance	12	42459840	42459840	Human	1	name
151875918	CV1487114	single nucleotide variant	NM_153026.3(PRICKLE1):c.1219G>A (p.Glu407Lys)	Epilepsy, progressive myoclonic, 1B [RCV001907061]	uncertain significance	12	42464815	42464815	Human	1	name
151813388	CV1492060	single nucleotide variant	NM_153026.3(PRICKLE1):c.1154C>T (p.Thr385Ile)	Epilepsy, progressive myoclonic, 1B [RCV002029193]	uncertain significance	12	42464880	42464880	Human	1	name
151873924	CV1493418	single nucleotide variant	NM_153026.3(PRICKLE1):c.2021G>C (p.Arg674Pro)	Epilepsy, progressive myoclonic, 1B [RCV001906831]	uncertain significance	12	42460284	42460284	Human	1	name
151823863	CV1494363	single nucleotide variant	NM_153026.3(PRICKLE1):c.2024G>A (p.Arg675His)	Epilepsy, progressive myoclonic, 1B [RCV001955029]	uncertain significance	12	42460281	42460281	Human	1	name
151809387	CV1500931	single nucleotide variant	NM_153026.3(PRICKLE1):c.1613A>C (p.Asp538Ala)	Epilepsy, progressive myoclonic, 1B [RCV001974626]	uncertain significance	12	42464421	42464421	Human	1	name
153303874	CV1686501	single nucleotide variant	NM_153026.3(PRICKLE1):c.2266G>A (p.Gly756Ser)	not provided [RCV002261935]	uncertain significance	12	42460039	42460039	Human		name
155703793	CV1771239	single nucleotide variant	NM_153026.3(PRICKLE1):c.1109C>A (p.Thr370Asn)	Epilepsy, progressive myoclonic, 1B [RCV002295740]	uncertain significance	12	42464925	42464925	Human	1	name
155699008	CV1777375	single nucleotide variant	NM_153026.3(PRICKLE1):c.1213C>G (p.Pro405Ala)	Epilepsy, progressive myoclonic, 1B [RCV002295498]	uncertain significance	12	42464821	42464821	Human	1	name
155730341	CV1828628	single nucleotide variant	NM_153026.3(PRICKLE1):c.1752C>A (p.Asn584Lys)	not specified [RCV004061297]	uncertain significance	12	42460553	42460553	Human		name
155732595	CV1835405	single nucleotide variant	NM_153026.3(PRICKLE1):c.1888C>A (p.Gln630Lys)	not specified [RCV004060191]	uncertain significance	12	42460417	42460417	Human		name
155722668	CV1836348	single nucleotide variant	NM_153026.3(PRICKLE1):c.1031A>G (p.Asp344Gly)	not specified [RCV004058923]	uncertain significance	12	42465003	42465003	Human		name
155687934	CV1840815	single nucleotide variant	NM_153026.3(PRICKLE1):c.2183C>T (p.Ala728Val)	not specified [RCV004061150]	uncertain significance	12	42460122	42460122	Human		name
155710271	CV1844016	single nucleotide variant	NM_153026.3(PRICKLE1):c.2145T>A (p.Asn715Lys)	Epilepsy, progressive myoclonic, 1B [RCV003101081]\|not specified [RCV004061007]	uncertain significance	12	42460160	42460160	Human	1	name
156149728	CV1878882	single nucleotide variant	NM_153026.3(PRICKLE1):c.1230T>A (p.Asp410Glu)	Epilepsy, progressive myoclonic, 1B [RCV003056486]	uncertain significance	12	42464804	42464804	Human	1	name
156296806	CV1894398	single nucleotide variant	NM_153026.3(PRICKLE1):c.1032T>G (p.Asp344Glu)	Epilepsy, progressive myoclonic, 1B [RCV003087728]	uncertain significance	12	42465002	42465002	Human	1	name
156138101	CV1902252	single nucleotide variant	NM_153026.3(PRICKLE1):c.1345G>T (p.Val449Phe)	Epilepsy, progressive myoclonic, 1B [RCV003082095]	uncertain significance	12	42464689	42464689	Human	1	name
156203837	CV1905758	single nucleotide variant	NM_153026.3(PRICKLE1):c.2054A>G (p.Asn685Ser)	Epilepsy, progressive myoclonic, 1B [RCV003084318]	uncertain significance	12	42460251	42460251	Human	1	name
156418468	CV1911150	single nucleotide variant	NM_153026.3(PRICKLE1):c.1858A>G (p.Arg620Gly)	Epilepsy, progressive myoclonic, 1B [RCV002611663]	uncertain significance	12	42460447	42460447	Human	1	name
156417172	CV1915712	single nucleotide variant	NM_153026.3(PRICKLE1):c.1799C>T (p.Ser600Leu)	Epilepsy, progressive myoclonic, 1B [RCV002610577]	uncertain significance	12	42460506	42460506	Human	1	name
156443829	CV1941098	single nucleotide variant	NM_153026.3(PRICKLE1):c.2420C>T (p.Thr807Ile)	Epilepsy, progressive myoclonic, 1B [RCV003114738]	uncertain significance	12	42459885	42459885	Human	1	name
156445122	CV1945189	single nucleotide variant	NM_153026.3(PRICKLE1):c.2218G>A (p.Asp740Asn)	Epilepsy, progressive myoclonic, 1B [RCV003116059]	uncertain significance	12	42460087	42460087	Human	1	name
10053099	CV195782	single nucleotide variant	NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg)	Epilepsy, progressive myoclonic, 1B [RCV000475911]\|not provided [RCV000180007]\|not specified [RCV004658978]	uncertain significance	12	42464599	42464599	Human	1	name
10053300	CV196078	single nucleotide variant	NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe)	Epilepsy, progressive myoclonic, 1B [RCV000525823]\|Intellectual disability [RCV001252361]\|Self-limited epilepsy with centrotemporal spikes [RCV000656030]\|not provided [RCV000712847]\|not specified [RCV004020166]	pathogenic\|likely benign\|uncertain significance	12	42460089	42460089	Human	5	name
10053301	CV196079	single nucleotide variant	NM_153026.3(PRICKLE1):c.2002T>A (p.Ser668Thr)	not provided [RCV000180379]	uncertain significance	12	42460303	42460303	Human		name
10053302	CV196080	single nucleotide variant	NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln)	Epilepsy, progressive myoclonic, 1B [RCV000796891]\|not provided [RCV000724229]\|not specified [RCV000188749]	uncertain significance	12	42460200	42460200	Human	1	name
156343980	CV1981737	single nucleotide variant	NM_153026.3(PRICKLE1):c.2111A>T (p.Tyr704Phe)	Epilepsy, progressive myoclonic, 1B [RCV002631578]	uncertain significance	12	42460194	42460194	Human	1	name
156395763	CV1985119	single nucleotide variant	NM_153026.3(PRICKLE1):c.1660A>C (p.Asn554His)	Epilepsy, progressive myoclonic, 1B [RCV002635463]\|not specified [RCV004066604]	uncertain significance	12	42460645	42460645	Human	1	name
156230132	CV2002361	single nucleotide variant	NM_153026.3(PRICKLE1):c.1767C>G (p.His589Gln)	Epilepsy, progressive myoclonic, 1B [RCV002667548]	uncertain significance	12	42460538	42460538	Human	1	name
156085979	CV2008767	single nucleotide variant	NM_153026.3(PRICKLE1):c.1640G>A (p.Gly547Glu)	Epilepsy, progressive myoclonic, 1B [RCV002706147]	uncertain significance	12	42460665	42460665	Human	1	name
156200284	CV2024516	single nucleotide variant	NM_153026.3(PRICKLE1):c.2050G>A (p.Asp684Asn)	Epilepsy, progressive myoclonic, 1B [RCV002711377]	uncertain significance	12	42460255	42460255	Human	1	name
10396673	CV202684	single nucleotide variant	NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser)	Epilepsy, progressive myoclonic, 1B [RCV000306724]\|not provided [RCV000725954]\|not specified [RCV000188732]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	42459901	42459901	Human	1	name
10396672	CV202685	single nucleotide variant	NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys)	Epilepsy, progressive myoclonic, 1B [RCV000536124]\|not provided [RCV000188731]\|not specified [RCV004020282]	likely benign\|uncertain significance	12	42460036	42460036	Human	1	name
10396684	CV202686	single nucleotide variant	NM_153026.3(PRICKLE1):c.2224G>A (p.Gly742Ser)	Epilepsy, progressive myoclonic, 1B [RCV001222774]\|not provided [RCV000188751]	uncertain significance	12	42460081	42460081	Human	1	name
10397965	CV202687	single nucleotide variant	NM_153026.3(PRICKLE1):c.2167G>A (p.Ala723Thr)	not provided [RCV000188750]	uncertain significance	12	42460138	42460138	Human		name
10396686	CV202688	single nucleotide variant	NM_153026.3(PRICKLE1):c.2155C>T (p.Arg719Trp)	Epilepsy, progressive myoclonic, 1B [RCV000689074]	uncertain significance	12	42460150	42460150	Human	1	name
10396671	CV202689	single nucleotide variant	NM_153026.3(PRICKLE1):c.1985A>G (p.Asn662Ser)	Epilepsy, progressive myoclonic, 1B [RCV001041255]\|not specified [RCV000188729]	likely benign\|uncertain significance	12	42460320	42460320	Human	1	name
10396685	CV202690	single nucleotide variant	NM_153026.3(PRICKLE1):c.1888C>G (p.Gln630Glu)	Epilepsy, progressive myoclonic, 1B [RCV000375035]\|not provided [RCV000188754]	likely benign\|uncertain significance	12	42460417	42460417	Human	1	name
10396683	CV202691	single nucleotide variant	NM_153026.3(PRICKLE1):c.1676C>T (p.Ser559Leu)	Epilepsy, progressive myoclonic, 1B [RCV001852492]\|not provided [RCV000188748]	uncertain significance	12	42460629	42460629	Human	1	name
10396682	CV202693	single nucleotide variant	NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser)	Epilepsy, progressive myoclonic, 1B [RCV000467028]\|not provided [RCV000188747]\|not specified [RCV004020288]	uncertain significance	12	42464487	42464487	Human	1	name
10397964	CV202694	single nucleotide variant	NM_153026.3(PRICKLE1):c.1516G>A (p.Ala506Thr)	Epilepsy, progressive myoclonic, 1B [RCV001857644]\|not provided [RCV000188746]	uncertain significance	12	42464518	42464518	Human	1	name
10396681	CV202695	single nucleotide variant	NM_153026.3(PRICKLE1):c.1505T>G (p.Leu502Arg)	Epilepsy, progressive myoclonic, 1B [RCV001338855]\|not specified [RCV004020287]	uncertain significance	12	42464529	42464529	Human	1	name
10396680	CV202696	single nucleotide variant	NM_153026.3(PRICKLE1):c.1360G>A (p.Glu454Lys)	Epilepsy, progressive myoclonic, 1B [RCV000560400]\|not provided [RCV000188744]\|not specified [RCV004020286]	likely benign\|uncertain significance	12	42464674	42464674	Human	1	name
10396679	CV202697	single nucleotide variant	NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg)	Epilepsy, progressive myoclonic, 1B [RCV000698134]\|not provided [RCV000731193]\|not specified [RCV004020285]	uncertain significance	12	42464812	42464812	Human	1	name
10397963	CV202698	single nucleotide variant	NM_153026.3(PRICKLE1):c.1198G>C (p.Glu400Gln)	not provided [RCV000188742]	uncertain significance	12	42464836	42464836	Human		name
10396678	CV202699	single nucleotide variant	NM_153026.3(PRICKLE1):c.1145G>A (p.Arg382Lys)	Epilepsy, progressive myoclonic, 1B [RCV000800273]\|not provided [RCV000712844]\|not specified [RCV000188741]	uncertain significance	12	42464889	42464889	Human	1	name
156023773	CV2040864	single nucleotide variant	NM_153026.3(PRICKLE1):c.2116C>T (p.Pro706Ser)	Epilepsy, progressive myoclonic, 1B [RCV002795711]	uncertain significance	12	42460189	42460189	Human	1	name
156041336	CV2044080	single nucleotide variant	NM_153026.3(PRICKLE1):c.1736A>G (p.Asn579Ser)	Epilepsy, progressive myoclonic, 1B [RCV002781504]	uncertain significance	12	42460569	42460569	Human	1	name
155908024	CV2052476	single nucleotide variant	NM_153026.3(PRICKLE1):c.1304T>C (p.Met435Thr)	Epilepsy, progressive myoclonic, 1B [RCV002837500]	uncertain significance	12	42464730	42464730	Human	1	name
156091847	CV2054509	single nucleotide variant	NM_153026.3(PRICKLE1):c.1424A>G (p.Gln475Arg)	Epilepsy, progressive myoclonic, 1B [RCV002824217]	uncertain significance	12	42464610	42464610	Human	1	name
156380084	CV2060720	single nucleotide variant	NM_153026.3(PRICKLE1):c.1302G>T (p.Glu434Asp)	Epilepsy, progressive myoclonic, 1B [RCV002815021]	uncertain significance	12	42464732	42464732	Human	1	name
156322124	CV2067661	single nucleotide variant	NM_153026.3(PRICKLE1):c.1299T>A (p.Asn433Lys)	Epilepsy, progressive myoclonic, 1B [RCV002834774]	uncertain significance	12	42464735	42464735	Human	1	name
156039288	CV2097910	single nucleotide variant	NM_153026.3(PRICKLE1):c.1276A>G (p.Ser426Gly)	Epilepsy, progressive myoclonic, 1B [RCV002885747]	uncertain significance	12	42464758	42464758	Human	1	name
155943386	CV2130040	single nucleotide variant	NM_153026.3(PRICKLE1):c.2031A>T (p.Arg677Ser)	Epilepsy, progressive myoclonic, 1B [RCV002971437]	uncertain significance	12	42460274	42460274	Human	1	name
156363523	CV2130412	single nucleotide variant	NM_153026.3(PRICKLE1):c.1613A>G (p.Asp538Gly)	Epilepsy, progressive myoclonic, 1B [RCV002967133]	uncertain significance	12	42464421	42464421	Human	1	name
156159871	CV2136710	single nucleotide variant	NM_153026.3(PRICKLE1):c.1036T>C (p.Cys346Arg)	Epilepsy, progressive myoclonic, 1B [RCV003005020]	uncertain significance	12	42464998	42464998	Human	1	name
156094505	CV2139460	single nucleotide variant	NM_153026.3(PRICKLE1):c.1970G>A (p.Arg657Gln)	Epilepsy, progressive myoclonic, 1B [RCV002979739]	uncertain significance	12	42460335	42460335	Human	1	name
155929803	CV2155752	single nucleotide variant	NM_153026.3(PRICKLE1):c.1346T>C (p.Val449Ala)	Epilepsy, progressive myoclonic, 1B [RCV003013574]	uncertain significance	12	42464688	42464688	Human	1	name
156257842	CV2204614	single nucleotide variant	NM_153026.3(PRICKLE1):c.1160T>C (p.Phe387Ser)	not specified [RCV004081722]	uncertain significance	12	42464874	42464874	Human		name
156032247	CV2259552	single nucleotide variant	NM_153026.3(PRICKLE1):c.2263T>C (p.Tyr755His)	not specified [RCV004122738]	uncertain significance	12	42460042	42460042	Human		name
156370414	CV2263536	single nucleotide variant	NM_153026.3(PRICKLE1):c.1864T>C (p.Ser622Pro)	not specified [RCV004133765]	uncertain significance	12	42460441	42460441	Human		name
11637226	CV265444	single nucleotide variant	NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln)	Epilepsy, progressive myoclonic, 1B [RCV000692133]\|not provided [RCV000724353]\|not specified [RCV000281320]	uncertain significance	12	42464433	42464433	Human	1	name
11642862	CV266262	single nucleotide variant	NM_153026.3(PRICKLE1):c.2275G>A (p.Asp759Asn)	not provided [RCV000382170]	uncertain significance	12	42460030	42460030	Human		name
11639793	CV269130	single nucleotide variant	NM_153026.3(PRICKLE1):c.1922G>A (p.Gly641Glu)	Epilepsy, progressive myoclonic, 1B [RCV001208102]\|not provided [RCV000327055]	uncertain significance	12	42460383	42460383	Human	1	name
401775309	CV2710516	single nucleotide variant	NM_153026.3(PRICKLE1):c.1619T>C (p.Leu540Ser)	not specified [RCV004319443]	uncertain significance	12	42464415	42464415	Human		name
11644226	CV273748	single nucleotide variant	NM_153026.3(PRICKLE1):c.2027G>A (p.Arg676Gln)	Epilepsy, progressive myoclonic, 1B [RCV001850451]\|not provided [RCV000408271]\|not specified [RCV004021280]	uncertain significance	12	42460278	42460278	Human	1	name
11641620	CV274079	single nucleotide variant	NM_153026.3(PRICKLE1):c.2288G>A (p.Cys763Tyr)	not provided [RCV000358745]	uncertain significance	12	42460017	42460017	Human		name
401865185	CV2768699	single nucleotide variant	NM_153026.3(PRICKLE1):c.1762C>G (p.Leu588Val)	not specified [RCV004344544]	uncertain significance	12	42460543	42460543	Human		name
401895915	CV2769624	single nucleotide variant	NM_153026.3(PRICKLE1):c.2056G>A (p.Ala686Thr)	not specified [RCV004351267]	uncertain significance	12	42460249	42460249	Human		name
401936432	CV2803238	single nucleotide variant	NM_153026.3(PRICKLE1):c.2245A>T (p.Asn749Tyr)	PRICKLE1-related disorder [RCV003414367]	uncertain significance	12	42460060	42460060	Human		name , trait , alternate_id
404977595	CV2850860	single nucleotide variant	NM_153026.3(PRICKLE1):c.2053A>G (p.Asn685Asp)	Epilepsy, progressive myoclonic, 1B [RCV003486208]	uncertain significance	12	42460252	42460252	Human	1	name
405079935	CV2949573	single nucleotide variant	NM_153026.3(PRICKLE1):c.2020C>T (p.Arg674Cys)	Epilepsy, progressive myoclonic, 1B [RCV003633907]	uncertain significance	12	42460285	42460285	Human	1	name
405160262	CV3125024	single nucleotide variant	NM_153026.3(PRICKLE1):c.2401C>T (p.Pro801Ser)	Epilepsy, progressive myoclonic, 1B [RCV003818295]	uncertain significance	12	42459904	42459904	Human	1	name
11665173	CV317072	single nucleotide variant	NM_153026.3(PRICKLE1):c.1072T>G (p.Tyr358Asp)	Progressive myoclonus epilepsy with ataxia [RCV000397049]	uncertain significance	12	42464962	42464962	Human		name , alternate_id
405281679	CV3224273	single nucleotide variant	NM_153026.3(PRICKLE1):c.2287T>A (p.Cys763Ser)	not provided [RCV003988655]	not provided	12	42460018	42460018	Human		name
11665108	CV324804	single nucleotide variant	NM_153026.3(PRICKLE1):c.2212A>G (p.Thr738Ala)	Progressive myoclonus epilepsy with ataxia [RCV000367059]	uncertain significance	12	42460093	42460093	Human		name , alternate_id
11665051	CV324807	single nucleotide variant	NM_153026.3(PRICKLE1):c.1225G>A (p.Ala409Thr)	Epilepsy, progressive myoclonic, 1B [RCV001325936]	uncertain significance	12	42464809	42464809	Human	1	name
405670314	CV3378094	single nucleotide variant	NM_153026.3(PRICKLE1):c.1372A>C (p.Asn458His)	not specified [RCV004515019]	uncertain significance	12	42464662	42464662	Human		name
405670319	CV3378095	single nucleotide variant	NM_153026.3(PRICKLE1):c.2303C>T (p.Ser768Phe)	not specified [RCV004515020]	uncertain significance	12	42460002	42460002	Human		name
407512978	CV3464268	single nucleotide variant	NM_153026.3(PRICKLE1):c.2363C>T (p.Pro788Leu)	not specified [RCV004648610]	uncertain significance	12	42459942	42459942	Human		name
408385452	CV3520130	single nucleotide variant	NM_153026.3(PRICKLE1):c.1809T>A (p.Cys603Ter)	not provided [RCV004759951]	uncertain significance	12	42460496	42460496	Human		name
596947160	CV3548710	single nucleotide variant	NM_153026.3(PRICKLE1):c.2242A>G (p.Met748Val)	not provided [RCV004811034]	uncertain significance	12	42460063	42460063	Human		name
12739014	CV360943	single nucleotide variant	NM_153026.3(PRICKLE1):c.2359C>T (p.Arg787Trp)	Epilepsy, progressive myoclonic, 1B [RCV001055366]\|Seizure [RCV000415096]\|not specified [RCV005260041]	uncertain significance	12	42459946	42459946	Human	3	name
12849644	CV364004	single nucleotide variant	NM_153026.3(PRICKLE1):c.2037A>C (p.Arg679Ser)	not provided [RCV000433520]	uncertain significance	12	42460268	42460268	Human		name
598180239	CV3904369	single nucleotide variant	NM_153026.3(PRICKLE1):c.2344C>T (p.Pro782Ser)	not specified [RCV005264990]	uncertain significance	12	42459961	42459961	Human		name
598180245	CV3904370	single nucleotide variant	NM_153026.3(PRICKLE1):c.2072C>G (p.Thr691Arg)	not specified [RCV005264991]	uncertain significance	12	42460233	42460233	Human		name
598180264	CV3904373	single nucleotide variant	NM_153026.3(PRICKLE1):c.1766A>T (p.His589Leu)	not specified [RCV005264994]	uncertain significance	12	42460539	42460539	Human		name
598180269	CV3904374	single nucleotide variant	NM_153026.3(PRICKLE1):c.2189T>A (p.Leu730His)	not specified [RCV005264995]	uncertain significance	12	42460116	42460116	Human		name
8568547	CV39687	single nucleotide variant	NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His)	Epilepsy, progressive myoclonic, 1B [RCV000023708]	pathogenic	12	42464620	42464620	Human	1	name
12881220	CV398985	single nucleotide variant	NM_153026.3(PRICKLE1):c.1299T>G (p.Asn433Lys)	Epilepsy, progressive myoclonic, 1B [RCV000457443]	uncertain significance	12	42464735	42464735	Human	1	name
12900589	CV408652	single nucleotide variant	NM_153026.3(PRICKLE1):c.2330A>G (p.Tyr777Cys)	not provided [RCV000482708]	uncertain significance	12	42459975	42459975	Human		name
12899334	CV408653	single nucleotide variant	NM_153026.3(PRICKLE1):c.1243A>G (p.Met415Val)	Epilepsy, progressive myoclonic, 1B [RCV001055726]\|not provided [RCV000479983]\|not specified [RCV004023122]	uncertain significance	12	42464791	42464791	Human	1	name
13472347	CV444995	single nucleotide variant	NM_153026.3(PRICKLE1):c.1444G>A (p.Asp482Asn)	Epilepsy, progressive myoclonic, 1B [RCV001232568]\|not provided [RCV000519106]	uncertain significance	12	42464590	42464590	Human	1	name
13481774	CV462162	single nucleotide variant	NM_153026.3(PRICKLE1):c.2473G>A (p.Gly825Ser)	Epilepsy, progressive myoclonic, 1B [RCV000551581]	uncertain significance	12	42459832	42459832	Human	1	name
13494735	CV462449	single nucleotide variant	NM_153026.3(PRICKLE1):c.1655G>A (p.Gly552Glu)	Epilepsy, progressive myoclonic, 1B [RCV000559131]	uncertain significance	12	42460650	42460650	Human	1	name
13486420	CV462452	single nucleotide variant	NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln)	Epilepsy, progressive myoclonic, 1B [RCV000531254]\|not specified [RCV004024091]	uncertain significance	12	42465030	42465030	Human	1	name
13472470	CV462950	single nucleotide variant	NM_153026.3(PRICKLE1):c.2097C>A (p.Asp699Glu)	Epilepsy, progressive myoclonic, 1B [RCV000547364]	uncertain significance	12	42460208	42460208	Human	1	name
13491075	CV462966	single nucleotide variant	NM_153026.3(PRICKLE1):c.1621G>T (p.Ala541Ser)	Epilepsy, progressive myoclonic, 1B [RCV000533960]	uncertain significance	12	42464413	42464413	Human	1	name
13468696	CV463087	single nucleotide variant	NM_153026.3(PRICKLE1):c.1600C>T (p.Arg534Trp)	Epilepsy, progressive myoclonic, 1B [RCV000544669]	uncertain significance	12	42464434	42464434	Human	1	name
13469897	CV463095	single nucleotide variant	NM_153026.3(PRICKLE1):c.1247C>T (p.Thr416Met)	Epilepsy, progressive myoclonic, 1B [RCV000545733]	uncertain significance	12	42464787	42464787	Human	1	name
13618379	CV527150	single nucleotide variant	NM_153026.3(PRICKLE1):c.2175C>G (p.Ile725Met)	Epilepsy, progressive myoclonic, 1B [RCV000646042]	uncertain significance	12	42460130	42460130	Human	1	name
13618374	CV527172	single nucleotide variant	NM_153026.3(PRICKLE1):c.1648G>A (p.Val550Met)	Epilepsy, progressive myoclonic, 1B [RCV000646039]	uncertain significance	12	42460657	42460657	Human	1	name
13618383	CV527418	single nucleotide variant	NM_153026.3(PRICKLE1):c.2089C>T (p.Pro697Ser)	Epilepsy, progressive myoclonic, 1B [RCV000646045]	uncertain significance	12	42460216	42460216	Human	1	name
13618381	CV527428	single nucleotide variant	NM_153026.3(PRICKLE1):c.2012A>T (p.His671Leu)	Epilepsy, progressive myoclonic, 1B [RCV000646043]	uncertain significance	12	42460293	42460293	Human	1	name
13618373	CV527664	single nucleotide variant	NM_153026.3(PRICKLE1):c.2431G>A (p.Gly811Ser)	Epilepsy, progressive myoclonic, 1B [RCV000646038]	uncertain significance	12	42459874	42459874	Human	1	name
13618394	CV527666	single nucleotide variant	NM_153026.3(PRICKLE1):c.2194G>A (p.Gly732Arg)	Epilepsy, progressive myoclonic, 1B [RCV000646055]\|not provided [RCV001536679]	likely benign	12	42460111	42460111	Human	1	name
13705480	CV536844	single nucleotide variant	NM_153026.3(PRICKLE1):c.1960G>A (p.Glu654Lys)	not provided [RCV000658028]	uncertain significance	12	42460345	42460345	Human		name
13821950	CV565474	single nucleotide variant	NM_153026.3(PRICKLE1):c.1609A>G (p.Met537Val)	Epilepsy, progressive myoclonic, 1B [RCV000696604]	uncertain significance	12	42464425	42464425	Human	1	name
13811917	CV566835	single nucleotide variant	NM_153026.3(PRICKLE1):c.1412T>C (p.Met471Thr)	Epilepsy, progressive myoclonic, 1B [RCV000689083]\|not specified [RCV004026314]	uncertain significance	12	42464622	42464622	Human	1	name
13822427	CV568043	single nucleotide variant	NM_153026.3(PRICKLE1):c.2324A>G (p.Glu775Gly)	Epilepsy, progressive myoclonic, 1B [RCV000697300]	uncertain significance	12	42459981	42459981	Human	1	name
13815232	CV571851	single nucleotide variant	NM_153026.3(PRICKLE1):c.2380T>C (p.Tyr794His)	Epilepsy, progressive myoclonic, 1B [RCV000691453]	uncertain significance	12	42459925	42459925	Human	1	name
13820846	CV576153	single nucleotide variant	NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu)	Epilepsy, progressive myoclonic, 1B [RCV001861946]\|not provided [RCV000709928]	uncertain significance\|not provided	12	42464641	42464641	Human	1	name
13829109	CV579810	single nucleotide variant	NM_153026.3(PRICKLE1):c.2104C>T (p.Arg702Trp)	Epilepsy, progressive myoclonic, 1B [RCV001068620]\|not specified [RCV004026866]	uncertain significance	12	42460201	42460201	Human	1	name
13830509	CV580080	single nucleotide variant	NM_153026.3(PRICKLE1):c.1438C>G (p.Leu480Val)	Epilepsy, progressive myoclonic, 1B [RCV001316026]\|Inborn genetic diseases [RCV002317627]	uncertain significance	12	42464596	42464596	Human	2	name
13830618	CV580082	single nucleotide variant	NM_153026.3(PRICKLE1):c.1118G>A (p.Arg373Gln)	Epilepsy, progressive myoclonic, 1B [RCV001351432]\|not specified [RCV004026912]	uncertain significance	12	42464916	42464916	Human	1	name
13837119	CV588404	single nucleotide variant	NM_153026.3(PRICKLE1):c.1318A>G (p.Ser440Gly)	not provided [RCV000733425]	uncertain significance	12	42464716	42464716	Human		name
13837481	CV588771	single nucleotide variant	NM_153026.3(PRICKLE1):c.1942C>G (p.Arg648Gly)	Epilepsy, progressive myoclonic, 1B [RCV001320316]\|not provided [RCV000733911]	uncertain significance	12	42460363	42460363	Human	1	name
14725396	CV641127	single nucleotide variant	NM_153026.3(PRICKLE1):c.1771A>G (p.Ser591Gly)	Epilepsy, progressive myoclonic, 1B [RCV000798791]	uncertain significance	12	42460534	42460534	Human	1	name
14723468	CV641128	single nucleotide variant	NM_153026.3(PRICKLE1):c.1255C>T (p.Leu419Phe)	Epilepsy, progressive myoclonic, 1B [RCV000814359]	uncertain significance	12	42464779	42464779	Human	1	name
14744582	CV641129	single nucleotide variant	NM_153026.3(PRICKLE1):c.1022G>A (p.Arg341Gln)	Epilepsy, progressive myoclonic, 1B [RCV000824200]	uncertain significance	12	42465012	42465012	Human	1	name
15040446	CV680105	single nucleotide variant	NM_153026.3(PRICKLE1):c.1682A>T (p.Tyr561Phe)	Fetal akinesia deformation sequence 1 [RCV000855498]	uncertain significance	12	42460623	42460623	Human	3	name
21067492	CV793422	single nucleotide variant	NM_153026.3(PRICKLE1):c.1324C>T (p.His442Tyr)	not provided [RCV000992700]	uncertain significance	12	42464710	42464710	Human		name
8627269	CV82413	single nucleotide variant	NM_153026.3(PRICKLE1):c.1607C>T (p.Ser536Leu)	Epilepsy, progressive myoclonic, 1B [RCV000560200]	uncertain significance\|not provided	12	42464427	42464427	Human	1	name
26901626	CV839904	single nucleotide variant	NM_153026.3(PRICKLE1):c.2192A>G (p.Tyr731Cys)	Epilepsy, progressive myoclonic, 1B [RCV001035713]\|not specified [RCV004847768]	uncertain significance	12	42460113	42460113	Human	1	name
26887876	CV839905	single nucleotide variant	NM_153026.3(PRICKLE1):c.2026C>T (p.Arg676Trp)	Epilepsy, progressive myoclonic, 1B [RCV001045044]	uncertain significance	12	42460279	42460279	Human	1	name
26906554	CV839906	single nucleotide variant	NM_153026.3(PRICKLE1):c.1899T>G (p.Phe633Leu)	Epilepsy, progressive myoclonic, 1B [RCV001051790]	uncertain significance	12	42460406	42460406	Human	1	name
26907601	CV839907	single nucleotide variant	NM_153026.3(PRICKLE1):c.1826C>T (p.Pro609Leu)	Epilepsy, progressive myoclonic, 1B [RCV001038043]	uncertain significance	12	42460479	42460479	Human	1	name
26886058	CV839908	single nucleotide variant	NM_153026.3(PRICKLE1):c.1807T>C (p.Cys603Arg)	Epilepsy, progressive myoclonic, 1B [RCV001043949]	uncertain significance	12	42460498	42460498	Human	1	name
26923668	CV839909	single nucleotide variant	NM_153026.3(PRICKLE1):c.1631A>G (p.Asn544Ser)	Epilepsy, progressive myoclonic, 1B [RCV001064418]	uncertain significance	12	42464403	42464403	Human	1	name
26915036	CV839910	single nucleotide variant	NM_153026.3(PRICKLE1):c.1541C>T (p.Thr514Ile)	Epilepsy, progressive myoclonic, 1B [RCV001041079]	uncertain significance	12	42464493	42464493	Human	1	name
26913600	CV839911	single nucleotide variant	NM_153026.3(PRICKLE1):c.1522G>C (p.Gly508Arg)	Epilepsy, progressive myoclonic, 1B [RCV001054349]	uncertain significance	12	42464512	42464512	Human	1	name
26912234	CV839912	single nucleotide variant	NM_153026.3(PRICKLE1):c.1520C>T (p.Ser507Leu)	Epilepsy, progressive myoclonic, 1B [RCV001053327]	uncertain significance	12	42464514	42464514	Human	1	name
26904561	CV839913	single nucleotide variant	NM_153026.3(PRICKLE1):c.1342A>T (p.Met448Leu)	Epilepsy, progressive myoclonic, 1B [RCV001050893]	uncertain significance	12	42464692	42464692	Human	1	name
26899027	CV839914	single nucleotide variant	NM_153026.3(PRICKLE1):c.1330A>C (p.Ile444Leu)	Epilepsy, progressive myoclonic, 1B [RCV001034862]	uncertain significance	12	42464704	42464704	Human	1	name
26919105	CV839915	single nucleotide variant	NM_153026.3(PRICKLE1):c.1288C>T (p.Pro430Ser)	Epilepsy, progressive myoclonic, 1B [RCV001058606]	uncertain significance	12	42464746	42464746	Human	1	name
28904751	CV859966	single nucleotide variant	NM_153026.3(PRICKLE1):c.1108A>G (p.Thr370Ala)	not provided [RCV001093218]	uncertain significance	12	42464926	42464926	Human		name
38485290	CV926623	single nucleotide variant	NM_153026.3(PRICKLE1):c.2156G>A (p.Arg719Gln)	Epilepsy, progressive myoclonic, 1B [RCV001219793]	uncertain significance	12	42460149	42460149	Human	1	name
38491074	CV926624	single nucleotide variant	NM_153026.3(PRICKLE1):c.2126A>G (p.Tyr709Cys)	Epilepsy, progressive myoclonic, 1B [RCV001222586]	uncertain significance	12	42460179	42460179	Human	1	name
38474003	CV926625	single nucleotide variant	NM_153026.3(PRICKLE1):c.1954A>G (p.Met652Val)	Epilepsy, progressive myoclonic, 1B [RCV001214557]	uncertain significance	12	42460351	42460351	Human	1	name
38477619	CV926626	single nucleotide variant	NM_153026.3(PRICKLE1):c.1358C>A (p.Thr453Asn)	Epilepsy, progressive myoclonic, 1B [RCV001216223]	uncertain significance	12	42464676	42464676	Human	1	name
38491174	CV926627	single nucleotide variant	NM_153026.3(PRICKLE1):c.1298A>G (p.Asn433Ser)	Epilepsy, progressive myoclonic, 1B [RCV001222653]	uncertain significance	12	42464736	42464736	Human	1	name
38486950	CV936113	single nucleotide variant	NM_153026.3(PRICKLE1):c.2422C>A (p.Pro808Thr)	Epilepsy, progressive myoclonic, 1B [RCV001209118]	uncertain significance	12	42459883	42459883	Human	1	name
38474640	CV936114	single nucleotide variant	NM_153026.3(PRICKLE1):c.2297C>T (p.Ser766Phe)	Epilepsy, progressive myoclonic, 1B [RCV001203905]	uncertain significance	12	42460008	42460008	Human	1	name
38460738	CV936115	single nucleotide variant	NM_153026.3(PRICKLE1):c.2163C>G (p.Ile721Met)	Epilepsy, progressive myoclonic, 1B [RCV001211885]	uncertain significance	12	42460142	42460142	Human	1	name
38469516	CV936117	single nucleotide variant	NM_153026.3(PRICKLE1):c.1568G>A (p.Cys523Tyr)	Epilepsy, progressive myoclonic, 1B [RCV001202429]\|not specified [RCV004033535]	uncertain significance	12	42464466	42464466	Human	1	name
38473721	CV936118	single nucleotide variant	NM_153026.3(PRICKLE1):c.1425G>T (p.Gln475His)	Epilepsy, progressive myoclonic, 1B [RCV001203545]	uncertain significance	12	42464609	42464609	Human	1	name
38481890	CV936119	single nucleotide variant	NM_153026.3(PRICKLE1):c.1165A>G (p.Ser389Gly)	Epilepsy, progressive myoclonic, 1B [RCV001207032]	uncertain significance	12	42464869	42464869	Human	1	name
38464752	CV936120	single nucleotide variant	NM_153026.3(PRICKLE1):c.1137T>A (p.Ser379Arg)	Epilepsy, progressive myoclonic, 1B [RCV001212538]	uncertain significance	12	42464897	42464897	Human	1	name
38466661	CV948013	single nucleotide variant	NM_153026.3(PRICKLE1):c.2276A>G (p.Asp759Gly)	Epilepsy, progressive myoclonic, 1B [RCV001230327]	uncertain significance	12	42460029	42460029	Human	1	name
38489784	CV948015	single nucleotide variant	NM_153026.3(PRICKLE1):c.1511A>G (p.His504Arg)	Epilepsy, progressive myoclonic, 1B [RCV001238564]	uncertain significance	12	42464523	42464523	Human	1	name
38482856	CV948016	single nucleotide variant	NM_153026.3(PRICKLE1):c.1060C>T (p.Pro354Ser)	Epilepsy, progressive myoclonic, 1B [RCV001235700]	uncertain significance	12	42464974	42464974	Human	1	name
38499163	CV956868	single nucleotide variant	NM_153026.3(PRICKLE1):c.2249G>A (p.Arg750Gln)	Epilepsy, progressive myoclonic, 1B [RCV001244276]	uncertain significance	12	42460056	42460056	Human	1	name
38495078	CV956870	single nucleotide variant	NM_153026.3(PRICKLE1):c.1327T>C (p.Trp443Arg)	Epilepsy, progressive myoclonic, 1B [RCV001241718]	uncertain significance	12	42464707	42464707	Human	1	name
126740919	CV995192	single nucleotide variant	NM_153026.3(PRICKLE1):c.2266G>C (p.Gly756Arg)	Epilepsy, progressive myoclonic, 1B [RCV001305340]	uncertain significance	12	42460039	42460039	Human	1	name
126743997	CV995193	single nucleotide variant	NM_153026.3(PRICKLE1):c.2107C>G (p.Leu703Val)	Epilepsy, progressive myoclonic, 1B [RCV001296272]	uncertain significance	12	42460198	42460198	Human	1	name
126758548	CV995194	single nucleotide variant	NM_153026.3(PRICKLE1):c.2045G>A (p.Arg682His)	Epilepsy, progressive myoclonic, 1B [RCV001299220]\|not provided [RCV001760345]	uncertain significance	12	42460260	42460260	Human	1	name
126761069	CV995195	single nucleotide variant	NM_153026.3(PRICKLE1):c.1919A>G (p.Asn640Ser)	Epilepsy, progressive myoclonic, 1B [RCV001299981]	uncertain significance	12	42460386	42460386	Human	1	name
126746095	CV995196	single nucleotide variant	NM_153026.3(PRICKLE1):c.1868A>G (p.Lys623Arg)	Epilepsy, progressive myoclonic, 1B [RCV001296532]	uncertain significance	12	42460437	42460437	Human	1	name
126739925	CV995197	single nucleotide variant	NM_153026.3(PRICKLE1):c.1788G>T (p.Lys596Asn)	Epilepsy, progressive myoclonic, 1B [RCV001295687]	uncertain significance	12	42460517	42460517	Human	1	name
126730725	CV995198	single nucleotide variant	NM_153026.3(PRICKLE1):c.1595G>A (p.Ser532Asn)	Epilepsy, progressive myoclonic, 1B [RCV001294250]\|not specified [RCV004035600]	uncertain significance	12	42464439	42464439	Human	1	name
126757910	CV995200	single nucleotide variant	NM_153026.3(PRICKLE1):c.1240T>C (p.Tyr414His)	Epilepsy, progressive myoclonic, 1B [RCV001299030]	uncertain significance	12	42464794	42464794	Human	1	name
126737823	CV995201	single nucleotide variant	NM_153026.3(PRICKLE1):c.1173A>C (p.Glu391Asp)	Epilepsy, progressive myoclonic, 1B [RCV001295406]	uncertain significance	12	42464861	42464861	Human	1	name
126772081	CV1010437	microsatellite	NM_153026.3(PRICKLE1):c.287_288del (p.Glu96fs)	Epilepsy, progressive myoclonic, 1B [RCV001323532]	uncertain significance	12	42469546	42469547	Human		name
13818870	CV565465	microsatellite	NM_153026.3(PRICKLE1):c.2272GAT[2] (p.Asp760del)	Epilepsy, progressive myoclonic, 1B [RCV000693995]	uncertain significance	12	42460025	42460027	Human		name
13833190	CV584419	microsatellite	NM_153026.3(PRICKLE1):c.1699GAG[1] (p.Glu568del)	not provided [RCV000728370]	uncertain significance	12	42460601	42460603	Human		name
38458183	CV948018	insertion	NM_153026.3(PRICKLE1):c.379_380insT (p.Glu127fs)	Epilepsy, progressive myoclonic, 1B [RCV001228841]	uncertain significance	12	42469454	42469455	Human	1	name
151790354	CV1370434	deletion	NM_153026.3(PRICKLE1):c.1714_1715del (p.Glu572fs)	Epilepsy, progressive myoclonic, 1B [RCV001972992]	uncertain significance	12	42460590	42460591	Human	1	name
38497394	CV948014	duplication	NM_153026.3(PRICKLE1):c.1571_1573dup (p.Leu524dup)	Epilepsy, progressive myoclonic, 1B [RCV001227036]	uncertain significance	12	42464460	42464461	Human	1	name
156210725	CV2170828	indel	NM_153026.3(PRICKLE1):c.758_759delinsAA (p.Thr253Lys)	Epilepsy, progressive myoclonic, 1B [RCV003042320]	uncertain significance	12	42466210	42466211	Human		name
38457434	CV956869	indel	NM_153026.3(PRICKLE1):c.1985_1996delinsG (p.Asn662fs)	Epilepsy, progressive myoclonic, 1B [RCV001246060]	uncertain significance	12	42460309	42460320	Human		name
155742716	CV1777376	indel	NM_153026.3(PRICKLE1):c.1901_1902delinsGC (p.Ser634Cys)	Epilepsy, progressive myoclonic, 1B [RCV002302937]	uncertain significance	12	42460403	42460404	Human		name
26922189	CV839916	indel	NM_153026.3(PRICKLE1):c.1088_1089delinsAT (p.Leu363His)	Epilepsy, progressive myoclonic, 1B [RCV001061677]	uncertain significance	12	42464945	42464946	Human		name
38488484	CV936116	indel	NM_153026.3(PRICKLE1):c.2141_2142delinsTT (p.Gln714Leu)	Epilepsy, progressive myoclonic, 1B [RCV001209771]	uncertain significance	12	42460163	42460164	Human		name
151888586	CV1517171	deletion	NM_153026.3(PRICKLE1):c.2195_2203del (p.Gly732_Tyr734del)	Epilepsy, progressive myoclonic, 1B [RCV002038431]	uncertain significance	12	42460102	42460110	Human	1	name
12883560	CV399457	indel	NM_153026.3(PRICKLE1):c.1413_1414delinsTC (p.Met471_Tyr472delinsIleHis)	Epilepsy, progressive myoclonic, 1B [RCV000461836]	uncertain significance	12	42464620	42464621	Human		name
126744697	CV986500	duplication	NC_000012.11:g.(?_42853591)_(42866338_?)dup	Progressive myoclonus epilepsy with ataxia [RCV001305879]	uncertain significance				Human		alternate_id

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