Pank2 Variant Search Result - Rat Genome Database

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741 records found for search term Pank2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405277935	CV3205640	single nucleotide variant	NM_153638.4(PANK2):c.-4G>T	PANK2-related disorder [RCV003959774]	likely benign	20	3889097	3889097	Human		name , trait , alternate_id
150424702	CV1185551	single nucleotide variant	NM_153638.4(PANK2):c.-22G>C	not provided [RCV001557010]	likely benign	20	3889079	3889079	Human		name
150427303	CV1188848	single nucleotide variant	NM_153638.4(PANK2):c.-53G>A	not provided [RCV001560748]	likely benign	20	3889048	3889048	Human		name
11595013	CV272020	single nucleotide variant	NM_153638.4(PANK2):c.-11G>A	Pigmentary pallidal degeneration [RCV000365814]\|not provided [RCV000675586]\|not specified [RCV000365190]	benign\|likely benign	20	3889090	3889090	Human	1	name
150418412	CV1195489	single nucleotide variant	NM_153638.4(PANK2):c.-138G>A	not provided [RCV001569206]	likely benign	20	3888963	3888963	Human		name
10049608	CV190670	single nucleotide variant	NM_001386393.1(PANK2):c.2T>A	Pigmentary pallidal degeneration [RCV000401983]\|not provided [RCV000675587]\|not specified [RCV000173580]	benign\|likely benign	20	3889432	3889432	Human	1	name
150551193	CV1297232	single nucleotide variant	NM_001386393.1(PANK2):c.-2C>T	not provided [RCV001766914]	uncertain significance	20	3889429	3889429	Human		name
156335048	CV2057721	single nucleotide variant	NM_001386393.1(PANK2):c.-3A>C	Pigmentary pallidal degeneration [RCV002810892]	uncertain significance	20	3889428	3889428	Human	1	name
405065906	CV2945644	single nucleotide variant	NM_001386393.1(PANK2):c.-7T>C	Pigmentary pallidal degeneration [RCV003611800]	likely benign	20	3889424	3889424	Human	1	name
405060157	CV3033445	single nucleotide variant	NM_001386393.1(PANK2):c.-4G>C	Pigmentary pallidal degeneration [RCV003611252]	likely benign	20	3889427	3889427	Human	1	name
405758694	CV3364042	single nucleotide variant	NM_001386393.1(PANK2):c.-3A>G	Inborn genetic diseases [RCV004500243]	likely benign	20	3889428	3889428	Human	1	name
597650494	CV3730500	single nucleotide variant	NM_001386393.1(PANK2):c.*7C>A	not provided [RCV005000789]	uncertain significance	20	3923301	3923301	Human		name
13796100	CV551745	single nucleotide variant	NM_001386393.1(PANK2):c.-5C>T	Inborn genetic diseases [RCV004649262]\|Pigmentary pallidal degeneration [RCV001861861]\|not specified [RCV000678821]	uncertain significance	20	3889426	3889426	Human	2	name
150422060	CV1181855	single nucleotide variant	NM_001386393.1(PANK2):c.*39G>A	not provided [RCV001552312]	likely benign	20	3923333	3923333	Human		name
151851190	CV1365816	single nucleotide variant	NM_001386393.1(PANK2):c.-20A>C	Pigmentary pallidal degeneration [RCV001922807]	uncertain significance	20	3889411	3889411	Human	1	name
151819421	CV1386837	single nucleotide variant	NM_001386393.1(PANK2):c.-32C>T	Pigmentary pallidal degeneration [RCV001954610]	uncertain significance	20	3889399	3889399	Human	1	name
151735218	CV1440625	single nucleotide variant	NM_001386393.1(PANK2):c.-21G>A	Pigmentary pallidal degeneration [RCV001911311]\|not provided [RCV003481178]	uncertain significance	20	3889410	3889410	Human	1	name
155641503	CV1707008	single nucleotide variant	NM_001386393.1(PANK2):c.-23A>C	not provided [RCV002287938]	uncertain significance	20	3889408	3889408	Human		name
156260776	CV1872362	single nucleotide variant	NM_001386393.1(PANK2):c.-22G>C	Pigmentary pallidal degeneration [RCV003060350]	uncertain significance	20	3889409	3889409	Human	1	name
156359955	CV1874071	single nucleotide variant	NM_001386393.1(PANK2):c.-31T>G	Pigmentary pallidal degeneration [RCV003065539]	likely benign	20	3889400	3889400	Human	1	name
156384081	CV1881588	single nucleotide variant	NM_001386393.1(PANK2):c.-29C>G	Pigmentary pallidal degeneration [RCV003067411]	uncertain significance	20	3889402	3889402	Human	1	name
156175577	CV1927650	single nucleotide variant	NM_001386393.1(PANK2):c.-40T>G	Pigmentary pallidal degeneration [RCV002624860]	likely benign	20	3889391	3889391	Human	1	name
156109239	CV1988627	single nucleotide variant	NM_001386393.1(PANK2):c.-16G>A	Pigmentary pallidal degeneration [RCV002622508]	likely benign	20	3889415	3889415	Human	1	name
155949780	CV2123415	single nucleotide variant	NM_001386393.1(PANK2):c.-11G>A	Pigmentary pallidal degeneration [RCV002971798]	uncertain significance	20	3889420	3889420	Human	1	name
11581152	CV268908	single nucleotide variant	NM_001386393.1(PANK2):c.-21G>T	Pigmentary pallidal degeneration [RCV002469097]\|not provided [RCV000357905]	pathogenic\|likely pathogenic	20	3889410	3889410	Human	1	name
402468773	CV2876936	single nucleotide variant	NM_001386393.1(PANK2):c.-28C>G	Pigmentary pallidal degeneration [RCV003503939]	likely benign	20	3889403	3889403	Human	1	name
405066317	CV2942462	single nucleotide variant	NM_001386393.1(PANK2):c.-28C>A	Pigmentary pallidal degeneration [RCV003611829]	likely benign	20	3889403	3889403	Human	1	name
405073449	CV3070797	single nucleotide variant	NM_001386393.1(PANK2):c.-37C>G	Pigmentary pallidal degeneration [RCV003612329]	likely benign	20	3889394	3889394	Human	1	name
405230583	CV3153903	single nucleotide variant	NM_001386393.1(PANK2):c.-13A>G	Pigmentary pallidal degeneration [RCV003848771]	likely benign	20	3889418	3889418	Human	1	name
405758687	CV3364041	single nucleotide variant	NM_001386393.1(PANK2):c.-24G>C	Inborn genetic diseases [RCV004500242]	uncertain significance	20	3889407	3889407	Human	1	name
11645674	CV345214	duplication	NM_001386393.1(PANK2):c.*63dup	Pigmentary pallidal degeneration [RCV000266858]	likely benign	20	3923350	3923351	Human	1	name
596926399	CV3539820	single nucleotide variant	NM_001386393.1(PANK2):c.-36T>G	not provided [RCV004790811]	uncertain significance	20	3889395	3889395	Human		name
598259089	CV4005772	single nucleotide variant	NM_001386393.1(PANK2):c.-34G>C	Inborn genetic diseases [RCV005386413]	uncertain significance	20	3889397	3889397	Human	1	name
13208050	CV424266	single nucleotide variant	NM_001386393.1(PANK2):c.*40G>C	Pigmentary pallidal degeneration [RCV000495834]	likely pathogenic	20	3923334	3923334	Human	1	name
15133394	CV786373	single nucleotide variant	NM_001386393.1(PANK2):c.-40T>C	Pigmentary pallidal degeneration [RCV000981545]	likely benign	20	3889391	3889391	Human	1	name
28897066	CV886074	single nucleotide variant	NM_001386393.1(PANK2):c.-29C>T	Pigmentary pallidal degeneration [RCV001141451]	uncertain significance	20	3889402	3889402	Human	1	name
28897069	CV886075	single nucleotide variant	NM_001386393.1(PANK2):c.-28C>T	PANK2-related disorder [RCV003953517]\|Pigmentary pallidal degeneration [RCV001141452]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	3889403	3889403	Human	2	name , trait , alternate_id
28897072	CV886076	single nucleotide variant	NM_001386393.1(PANK2):c.-10G>A	Pigmentary pallidal degeneration [RCV001141453]	conflicting interpretations of pathogenicity\|uncertain significance	20	3889421	3889421	Human	1	name
11619517	CV335391	single nucleotide variant	NM_001386393.1(PANK2):c.*218A>G	Pigmentary pallidal degeneration [RCV000326588]\|not provided [RCV001590987]	benign\|likely benign	20	3923512	3923512	Human	1	name
11626920	CV345217	single nucleotide variant	NM_001386393.1(PANK2):c.*382C>T	Pigmentary pallidal degeneration [RCV000272663]\|not provided [RCV004694601]	uncertain significance	20	3923676	3923676	Human	1	name
11631540	CV349949	single nucleotide variant	NM_001386393.1(PANK2):c.*376A>G	Pigmentary pallidal degeneration [RCV000381177]	uncertain significance	20	3923670	3923670	Human	1	name
11655714	CV349952	single nucleotide variant	NM_001386393.1(PANK2):c.*407A>G	Pigmentary pallidal degeneration [RCV000327941]	uncertain significance	20	3923701	3923701	Human	1	name
11662542	CV350967	single nucleotide variant	NM_001386393.1(PANK2):c.*541C>T	Pigmentary pallidal degeneration [RCV000387153]	uncertain significance	20	3923835	3923835	Human	1	name
28897385	CV886084	single nucleotide variant	NM_001386393.1(PANK2):c.*391C>G	Pigmentary pallidal degeneration [RCV001141566]	uncertain significance	20	3923685	3923685	Human	1	name
28897389	CV886085	single nucleotide variant	NM_001386393.1(PANK2):c.*468T>C	Pigmentary pallidal degeneration [RCV001141567]	uncertain significance	20	3923762	3923762	Human	1	name
28897481	CV886086	single nucleotide variant	NM_001386393.1(PANK2):c.*534A>G	Pigmentary pallidal degeneration [RCV001141568]	uncertain significance	20	3923828	3923828	Human	1	name
126726160	CV1018695	single nucleotide variant	NM_001386393.1(PANK2):c.905+1G>C	Pigmentary pallidal degeneration [RCV001331812]	pathogenic	20	3910831	3910831	Human	1	name
150334588	CV1164560	duplication	NM_001386393.1(PANK2):c.298+2dup	Pigmentary pallidal degeneration [RCV002568878]\|not provided [RCV001529730]	uncertain significance	20	3889729	3889730	Human	1	name
151824093	CV1349525	single nucleotide variant	NM_001386393.1(PANK2):c.299-9C>G	Pigmentary pallidal degeneration [RCV001934431]	likely benign\|uncertain significance	20	3907917	3907917	Human	1	name
151767337	CV1367306	single nucleotide variant	NM_001386393.1(PANK2):c.651+3A>C	Pigmentary pallidal degeneration [RCV002025022]	uncertain significance	20	3908281	3908281	Human	1	name
151814048	CV1491098	single nucleotide variant	NM_001386393.1(PANK2):c.652-1G>C	Pigmentary pallidal degeneration [RCV001975059]	pathogenic	20	3910576	3910576	Human	1	name
152136471	CV1537675	single nucleotide variant	NM_001386393.1(PANK2):c.651+9T>C	Pigmentary pallidal degeneration [RCV002177484]	likely benign	20	3908287	3908287	Human	1	name
152126010	CV1646286	single nucleotide variant	NM_001386393.1(PANK2):c.906-4A>C	Pigmentary pallidal degeneration [RCV002217416]	likely benign	20	3912454	3912454	Human	1	name
156272064	CV2136600	single nucleotide variant	NM_001386393.1(PANK2):c.651+7A>G	Pigmentary pallidal degeneration [RCV003009303]	likely benign	20	3908285	3908285	Human	1	name
401855628	CV2753046	single nucleotide variant	NM_001386393.1(PANK2):c.652-2A>G	Pigmentary pallidal degeneration [RCV003338101]	likely pathogenic	20	3910575	3910575	Human	1	name
405130100	CV2905507	single nucleotide variant	NM_001386393.1(PANK2):c.299-1G>A	Pigmentary pallidal degeneration [RCV003502041]	likely pathogenic	20	3907925	3907925	Human	1	name
405084446	CV2994055	single nucleotide variant	NM_001386393.1(PANK2):c.298+9T>C	Pigmentary pallidal degeneration [RCV003613212]	likely benign	20	3889737	3889737	Human	1	name
405167008	CV3125721	single nucleotide variant	NM_001386393.1(PANK2):c.299-6A>G	Pigmentary pallidal degeneration [RCV003818804]	likely benign	20	3907920	3907920	Human	1	name
405050900	CV3150949	single nucleotide variant	NM_001386393.1(PANK2):c.652-7A>G	Pigmentary pallidal degeneration [RCV003849553]	likely benign	20	3910570	3910570	Human	1	name
405213619	CV3169895	single nucleotide variant	NM_001386393.1(PANK2):c.906-8A>C	Pigmentary pallidal degeneration [RCV003862499]	likely benign	20	3912450	3912450	Human	1	name
407574654	CV3499665	single nucleotide variant	NM_001386393.1(PANK2):c.298+5G>C	Pigmentary pallidal degeneration [RCV005023655]\|not provided [RCV004720158]	likely pathogenic\|uncertain significance	20	3889733	3889733	Human	1	name
408366570	CV3512165	single nucleotide variant	NM_001386393.1(PANK2):c.298+3A>G	PANK2-related disorder [RCV004756831]	likely benign	20	3889731	3889731	Human		name , trait , alternate_id
597897637	CV3827313	single nucleotide variant	NM_001386393.1(PANK2):c.298+7G>A	Pigmentary pallidal degeneration [RCV005172584]	likely benign	20	3889735	3889735	Human	1	name
616939384	CV4015718	single nucleotide variant	NM_001386393.1(PANK2):c.298+2T>C	Pigmentary pallidal degeneration [RCV005413230]	likely pathogenic	20	3889730	3889730	Human	1	name
12913908	CV422318	single nucleotide variant	NM_001386393.1(PANK2):c.651+3A>G	Pigmentary pallidal degeneration [RCV001851354]\|not provided [RCV000494403]	pathogenic\|likely pathogenic\|uncertain significance	20	3908281	3908281	Human	1	name
13210908	CV424671	single nucleotide variant	NM_001386393.1(PANK2):c.905+1G>T	Pigmentary pallidal degeneration [RCV000496161]	pathogenic	20	3910831	3910831	Human	1	name
13613469	CV533598	single nucleotide variant	NM_001386393.1(PANK2):c.906-2A>C	Pigmentary pallidal degeneration [RCV000631201]	pathogenic	20	3912456	3912456	Human	1	name
40887358	CV974192	single nucleotide variant	NM_001386393.1(PANK2):c.651+1G>C	Inborn genetic diseases [RCV001266901]	likely pathogenic	20	3908279	3908279	Human	1	name
40889883	CV975552	single nucleotide variant	NM_001386393.1(PANK2):c.906-1G>A	not provided [RCV001268387]	likely pathogenic	20	3912457	3912457	Human		name
126734927	CV1001160	single nucleotide variant	NM_001386393.1(PANK2):c.1083-4A>C	Pigmentary pallidal degeneration [RCV001413996]\|not provided [RCV001310447]	likely benign\|uncertain significance	20	3916923	3916923	Human	1	name
150331356	CV1169862	single nucleotide variant	NM_001386393.1(PANK2):c.298+30C>G	not provided [RCV001536442]	benign	20	3889758	3889758	Human		name
150331159	CV1169863	single nucleotide variant	NM_001386393.1(PANK2):c.905+99A>C	not provided [RCV001536366]	benign	20	3910929	3910929	Human		name
150433998	CV1204238	single nucleotide variant	NM_001386393.1(PANK2):c.651+82C>T	not provided [RCV001581987]	likely benign	20	3908360	3908360	Human		name
150496806	CV1208646	single nucleotide variant	NM_001386393.1(PANK2):c.651+62A>C	not provided [RCV001593862]	likely benign	20	3908340	3908340	Human		name
8586446	CV121048	single nucleotide variant	NM_024960.4(PANK2):c.-246+9227C>T	Lung cancer [RCV000101568]	uncertain significance	20	3898131	3898131	Human		name
150484575	CV1263209	single nucleotide variant	NM_001386393.1(PANK2):c.298+34C>T	not provided [RCV001686609]	benign	20	3889762	3889762	Human		name
150484713	CV1273963	single nucleotide variant	NM_001386393.1(PANK2):c.298+35C>T	not provided [RCV001698555]	benign	20	3889763	3889763	Human		name
150463658	CV1276257	single nucleotide variant	NM_001386393.1(PANK2):c.298+42C>A	not provided [RCV001710202]\|not specified [RCV004598117]	benign	20	3889770	3889770	Human		name
152127992	CV1554306	single nucleotide variant	NM_001386393.1(PANK2):c.652-18A>C	Pigmentary pallidal degeneration [RCV002176419]\|not provided [RCV004717889]	benign	20	3910559	3910559	Human	1	name
152143573	CV1557047	single nucleotide variant	NM_001386393.1(PANK2):c.905+18C>T	Pigmentary pallidal degeneration [RCV002200896]	likely benign	20	3910848	3910848	Human	1	name
152025899	CV1586611	single nucleotide variant	NM_001386393.1(PANK2):c.905+14A>T	Pigmentary pallidal degeneration [RCV002184973]	likely benign	20	3910844	3910844	Human	1	name
152037976	CV1669202	single nucleotide variant	NM_001386393.1(PANK2):c.651+84A>G	not provided [RCV002224254]	uncertain significance	20	3908362	3908362	Human		name
156093761	CV1895760	deletion	NM_001386393.1(PANK2):c.299-14del	Pigmentary pallidal degeneration [RCV003080324]	benign	20	3907908	3907908	Human	1	name
156177603	CV1924322	single nucleotide variant	NM_001386393.1(PANK2):c.905+10A>T	Pigmentary pallidal degeneration [RCV002624930]	likely benign	20	3910840	3910840	Human	1	name
8558150	CV19598	single nucleotide variant	NM_001386393.1(PANK2):c.1083-1G>T	Inborn genetic diseases [RCV002512774]\|Pigmentary pallidal degeneration [RCV000004821]\|not provided [RCV002247248]	pathogenic\|likely pathogenic	20	3916926	3916926	Human	2	name
156257332	CV2003982	single nucleotide variant	NM_001386393.1(PANK2):c.298+18C>T	Pigmentary pallidal degeneration [RCV002627647]	likely benign	20	3889746	3889746	Human	1	name
156218527	CV2028782	single nucleotide variant	NM_001386393.1(PANK2):c.1083-5C>T	Pigmentary pallidal degeneration [RCV002712047]	likely benign	20	3916922	3916922	Human	1	name
156344314	CV2186185	single nucleotide variant	NM_001386393.1(PANK2):c.652-16T>A	Pigmentary pallidal degeneration [RCV003047926]	likely benign	20	3910561	3910561	Human	1	name
402468468	CV2868843	single nucleotide variant	NM_001386393.1(PANK2):c.1206+9A>G	Pigmentary pallidal degeneration [RCV003503833]	likely benign	20	3917059	3917059	Human	1	name
402470093	CV2882536	single nucleotide variant	NM_001386393.1(PANK2):c.652-11T>C	Pigmentary pallidal degeneration [RCV003504300]	likely benign	20	3910566	3910566	Human	1	name
402470278	CV2882886	single nucleotide variant	NM_001386393.1(PANK2):c.298+11C>T	Pigmentary pallidal degeneration [RCV003504349]	likely benign	20	3889739	3889739	Human	1	name
402470120	CV2892756	single nucleotide variant	NM_001386393.1(PANK2):c.652-15C>T	Pigmentary pallidal degeneration [RCV003504307]	likely benign	20	3910562	3910562	Human	1	name
402469328	CV2930172	single nucleotide variant	NM_001386393.1(PANK2):c.906-12T>G	Pigmentary pallidal degeneration [RCV003504066]	likely benign	20	3912446	3912446	Human	1	name
405065997	CV2938778	deletion	NM_001386393.1(PANK2):c.298+11del	Pigmentary pallidal degeneration [RCV003611806]	likely benign	20	3889738	3889738	Human	1	name
405065212	CV2940807	single nucleotide variant	NM_001386393.1(PANK2):c.298+13T>A	Pigmentary pallidal degeneration [RCV003611746]	likely benign	20	3889741	3889741	Human	1	name
405065721	CV2941497	single nucleotide variant	NM_001386393.1(PANK2):c.1333-8T>C	Pigmentary pallidal degeneration [RCV003611785]	likely benign	20	3923236	3923236	Human	1	name
405066216	CV2945956	single nucleotide variant	NM_001386393.1(PANK2):c.905+10A>G	Pigmentary pallidal degeneration [RCV003611822]	likely benign	20	3910840	3910840	Human	1	name
405082805	CV2991826	single nucleotide variant	NM_001386393.1(PANK2):c.298+12G>C	Pigmentary pallidal degeneration [RCV003613081]	likely benign	20	3889740	3889740	Human	1	name
405086818	CV3007160	single nucleotide variant	NM_001386393.1(PANK2):c.651+19A>G	Pigmentary pallidal degeneration [RCV003613401]	likely benign	20	3908297	3908297	Human	1	name
405058356	CV3024404	single nucleotide variant	NM_001386393.1(PANK2):c.1083-1G>A	Pigmentary pallidal degeneration [RCV003611135]	pathogenic	20	3916926	3916926	Human	1	name
405057316	CV3026112	single nucleotide variant	NM_001386393.1(PANK2):c.1333-4T>A	Pigmentary pallidal degeneration [RCV003611017]	likely benign	20	3923240	3923240	Human	1	name
405058321	CV3027643	single nucleotide variant	NM_001386393.1(PANK2):c.651+16C>G	Pigmentary pallidal degeneration [RCV003611132]	likely benign	20	3908294	3908294	Human	1	name
405062093	CV3044525	single nucleotide variant	NM_001386393.1(PANK2):c.906-12T>A	Pigmentary pallidal degeneration [RCV003611421]	likely benign	20	3912446	3912446	Human	1	name
405068455	CV3048842	single nucleotide variant	NM_001386393.1(PANK2):c.1207-5C>T	Pigmentary pallidal degeneration [RCV003611982]	likely benign	20	3918666	3918666	Human	1	name
405069288	CV3059915	single nucleotide variant	NM_001386393.1(PANK2):c.1332+8G>C	Pigmentary pallidal degeneration [RCV003612039]	likely benign	20	3918804	3918804	Human	1	name
405072273	CV3066442	single nucleotide variant	NM_001386393.1(PANK2):c.652-18A>G	Pigmentary pallidal degeneration [RCV003612243]	likely benign	20	3910559	3910559	Human	1	name
405071218	CV3067995	single nucleotide variant	NM_001386393.1(PANK2):c.298+12G>T	Pigmentary pallidal degeneration [RCV003612103]	likely benign	20	3889740	3889740	Human	1	name
405081914	CV3072350	single nucleotide variant	NM_001386393.1(PANK2):c.906-13T>G	Pigmentary pallidal degeneration [RCV003612998]	likely benign	20	3912445	3912445	Human	1	name
405074481	CV3076702	single nucleotide variant	NM_001386393.1(PANK2):c.298+20C>T	Pigmentary pallidal degeneration [RCV003612398]	likely benign	20	3889748	3889748	Human	1	name
405089769	CV3138213	single nucleotide variant	NM_001386393.1(PANK2):c.652-14T>C	Pigmentary pallidal degeneration [RCV003834731]	likely benign	20	3910563	3910563	Human	1	name
405221152	CV3157873	single nucleotide variant	NM_001386393.1(PANK2):c.652-19C>T	Pigmentary pallidal degeneration [RCV003863565]	likely benign	20	3910558	3910558	Human	1	name
405215657	CV3160668	single nucleotide variant	NM_001386393.1(PANK2):c.1207-6G>A	Pigmentary pallidal degeneration [RCV003862730]	likely benign	20	3918665	3918665	Human	1	name
405204690	CV3165487	single nucleotide variant	NM_001386393.1(PANK2):c.906-19T>A	Pigmentary pallidal degeneration [RCV003861153]	likely benign	20	3912439	3912439	Human	1	name
405194854	CV3167700	single nucleotide variant	NM_001386393.1(PANK2):c.299-12T>G	Pigmentary pallidal degeneration [RCV003860106]	likely benign	20	3907914	3907914	Human	1	name
402484833	CV3171295	single nucleotide variant	NM_001386393.1(PANK2):c.652-12A>G	Pigmentary pallidal degeneration [RCV003876322]	likely benign	20	3910565	3910565	Human	1	name
405240718	CV3176793	single nucleotide variant	NM_001386393.1(PANK2):c.299-12T>C	Pigmentary pallidal degeneration [RCV003867231]	likely benign	20	3907914	3907914	Human	1	name
11631886	CV350959	single nucleotide variant	NM_001386393.1(PANK2):c.298+15G>C	Pigmentary pallidal degeneration [RCV000391971]	conflicting interpretations of pathogenicity\|uncertain significance	20	3889743	3889743	Human	1	name
597843439	CV3769181	single nucleotide variant	NM_001386393.1(PANK2):c.905+16A>C	Pigmentary pallidal degeneration [RCV005118676]	likely benign	20	3910846	3910846	Human	1	name
13786842	CV549801	single nucleotide variant	NM_001386393.1(PANK2):c.298+24C>A	not provided [RCV000675590]	benign\|likely benign	20	3889752	3889752	Human		name
13786848	CV549803	single nucleotide variant	NM_001386393.1(PANK2):c.905+22C>T	not provided [RCV000675592]	benign\|likely benign	20	3910852	3910852	Human		name
14717551	CV653126	single nucleotide variant	NM_001386393.1(PANK2):c.1082+1G>C	Pigmentary pallidal degeneration [RCV000808102]	likely pathogenic	20	3912635	3912635	Human	1	name
14716385	CV653551	single nucleotide variant	NM_001386393.1(PANK2):c.1207-3C>G	Pigmentary pallidal degeneration [RCV000803694]\|not provided [RCV003233854]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	20	3918668	3918668	Human	1	name
28882756	CV887459	single nucleotide variant	NM_001386393.1(PANK2):c.298+10C>T	Pigmentary pallidal degeneration [RCV001136717]	conflicting interpretations of pathogenicity\|uncertain significance	20	3889738	3889738	Human	1	name
150335401	CV1173347	single nucleotide variant	NM_001386393.1(PANK2):c.298+309C>T	not provided [RCV001540544]	benign	20	3890037	3890037	Human		name
150333552	CV1173348	single nucleotide variant	NM_001386393.1(PANK2):c.651+199A>G	not provided [RCV001539552]	benign	20	3908477	3908477	Human		name
150429345	CV1188849	single nucleotide variant	NM_001386393.1(PANK2):c.905+200G>A	not provided [RCV001563475]	likely benign	20	3911030	3911030	Human		name
150411946	CV1192235	single nucleotide variant	NM_001386393.1(PANK2):c.299-250C>T	not provided [RCV001566771]	likely benign	20	3907676	3907676	Human		name
150446465	CV1201729	single nucleotide variant	NM_001386393.1(PANK2):c.1332+73G>A	not provided [RCV001584597]	likely benign	20	3918869	3918869	Human		name
150459139	CV1202880	single nucleotide variant	NM_001386393.1(PANK2):c.298+100A>G	not provided [RCV001586533]	likely benign	20	3889828	3889828	Human		name
150441210	CV1205314	duplication	NM_001386393.1(PANK2):c.1083-13dup	not provided [RCV001585214]\|not specified [RCV001699822]	benign\|likely benign	20	3916906	3916907	Human		name
150488540	CV1208271	single nucleotide variant	NM_001386393.1(PANK2):c.299-158T>C	not provided [RCV001592131]	likely benign	20	3907768	3907768	Human		name
150469678	CV1209189	single nucleotide variant	NM_001386393.1(PANK2):c.299-325G>T	not provided [RCV001588300]	likely benign	20	3907601	3907601	Human		name
150510842	CV1210594	single nucleotide variant	NM_001386393.1(PANK2):c.906-219A>G	not provided [RCV001597773]	benign	20	3912239	3912239	Human		name
150500715	CV1213210	duplication	NM_001386393.1(PANK2):c.652-270dup	not provided [RCV001594622]	benign	20	3910295	3910296	Human		name
150436511	CV1249707	single nucleotide variant	NM_001386393.1(PANK2):c.299-236A>G	not provided [RCV001665621]	benign	20	3907690	3907690	Human		name
152027721	CV1520997	single nucleotide variant	NM_001386393.1(PANK2):c.1083-20T>C	Pigmentary pallidal degeneration [RCV002085225]	likely benign	20	3916907	3916907	Human	1	name
152119051	CV1522505	single nucleotide variant	NM_001386393.1(PANK2):c.1332+20G>A	Pigmentary pallidal degeneration [RCV002081298]	likely benign	20	3918816	3918816	Human	1	name
152131012	CV1523658	duplication	NM_001386393.1(PANK2):c.1207-12dup	Pigmentary pallidal degeneration [RCV002136918]	benign	20	3918652	3918653	Human	1	name
152137651	CV1580455	single nucleotide variant	NM_001386393.1(PANK2):c.1207-17T>C	Pigmentary pallidal degeneration [RCV002156343]	likely benign	20	3918654	3918654	Human	1	name
152101295	CV1610979	single nucleotide variant	NM_001386393.1(PANK2):c.1332+10C>T	Pigmentary pallidal degeneration [RCV002133305]	likely benign	20	3918806	3918806	Human	1	name
152042526	CV1621716	single nucleotide variant	NM_001386393.1(PANK2):c.1207-11G>C	Pigmentary pallidal degeneration [RCV002107939]	likely benign	20	3918660	3918660	Human	1	name
152157666	CV1630606	single nucleotide variant	NM_001386393.1(PANK2):c.1332+16C>A	Pigmentary pallidal degeneration [RCV002122652]\|not provided [RCV004717877]	benign	20	3918812	3918812	Human	1	name
152172896	CV1641769	single nucleotide variant	NM_001386393.1(PANK2):c.1333-12A>G	Pigmentary pallidal degeneration [RCV002183994]	likely benign	20	3923232	3923232	Human	1	name
152037983	CV1669203	single nucleotide variant	NM_001386393.1(PANK2):c.905+252T>C	not provided [RCV002224255]	uncertain significance	20	3911082	3911082	Human		name
156407969	CV1873140	single nucleotide variant	NM_001386393.1(PANK2):c.1332+17G>A	Pigmentary pallidal degeneration [RCV003071087]	likely benign	20	3918813	3918813	Human	1	name
156130015	CV1924675	single nucleotide variant	NM_001386393.1(PANK2):c.1333-16G>T	Pigmentary pallidal degeneration [RCV002640674]	likely benign	20	3923228	3923228	Human	1	name
401855588	CV2753006	single nucleotide variant	NM_001386393.1(PANK2):c.1207-11G>A	Pigmentary pallidal degeneration [RCV003338061]	uncertain significance	20	3918660	3918660	Human	1	name
402465137	CV2855240	single nucleotide variant	NM_001386393.1(PANK2):c.1083-16T>G	Pigmentary pallidal degeneration [RCV003502929]	likely benign	20	3916911	3916911	Human	1	name
402464854	CV2858141	single nucleotide variant	NM_001386393.1(PANK2):c.1206+11A>G	Pigmentary pallidal degeneration [RCV003502860]	likely benign	20	3917061	3917061	Human	1	name
402468754	CV2880531	single nucleotide variant	NM_001386393.1(PANK2):c.1083-13T>C	Pigmentary pallidal degeneration [RCV003503934]	likely benign	20	3916914	3916914	Human	1	name
405133090	CV2897537	single nucleotide variant	NM_001386393.1(PANK2):c.1332+16C>T	Pigmentary pallidal degeneration [RCV003502355]	likely benign	20	3918812	3918812	Human	1	name
405067779	CV2961835	single nucleotide variant	NM_001386393.1(PANK2):c.1082+20C>T	Pigmentary pallidal degeneration [RCV003611938]	likely benign	20	3912654	3912654	Human	1	name
405085361	CV3012233	single nucleotide variant	NM_001386393.1(PANK2):c.1207-16T>C	Pigmentary pallidal degeneration [RCV003613279]	likely benign	20	3918655	3918655	Human	1	name
405084926	CV3014845	single nucleotide variant	NM_001386393.1(PANK2):c.1083-18T>C	Pigmentary pallidal degeneration [RCV003613246]	likely benign	20	3916909	3916909	Human	1	name
405061244	CV3050380	single nucleotide variant	NM_001386393.1(PANK2):c.1083-12C>T	Pigmentary pallidal degeneration [RCV003611351]	likely benign	20	3916915	3916915	Human	1	name
405070212	CV3058226	single nucleotide variant	NM_001386393.1(PANK2):c.1207-20C>A	Pigmentary pallidal degeneration [RCV003612127]	likely benign	20	3918651	3918651	Human	1	name
405070167	CV3061398	deletion	NM_001386393.1(PANK2):c.1082+19del	Pigmentary pallidal degeneration [RCV003612124]	likely benign	20	3912652	3912652	Human	1	name
405082145	CV3077740	single nucleotide variant	NM_001386393.1(PANK2):c.1206+11A>C	Pigmentary pallidal degeneration [RCV003613019]	likely benign	20	3917061	3917061	Human	1	name
405184537	CV3124185	single nucleotide variant	NM_001386393.1(PANK2):c.1332+14T>G	Pigmentary pallidal degeneration [RCV003820383]	likely benign	20	3918810	3918810	Human	1	name
405193667	CV3167585	single nucleotide variant	NM_001386393.1(PANK2):c.1082+11A>G	Pigmentary pallidal degeneration [RCV003859991]	likely benign	20	3912645	3912645	Human	1	name
405250271	CV3180686	deletion	NM_001386393.1(PANK2):c.1083-13del	Pigmentary pallidal degeneration [RCV003869963]	benign	20	3916907	3916907	Human	1	name
597840447	CV3767690	deletion	NM_001386393.1(PANK2):c.1207-12del	Pigmentary pallidal degeneration [RCV005114491]	benign	20	3918653	3918653	Human	1	name
597871353	CV3816571	single nucleotide variant	NM_001386393.1(PANK2):c.1332+16C>G	Pigmentary pallidal degeneration [RCV005146144]	likely benign	20	3918812	3918812	Human	1	name
616933594	CV4013526	single nucleotide variant	NM_001386393.1(PANK2):c.651+633C>T	Pigmentary pallidal degeneration [RCV005411088]	pathogenic	20	3908911	3908911	Human	1	name
15119402	CV776776	single nucleotide variant	NM_001386393.1(PANK2):c.1083-10C>T	Pigmentary pallidal degeneration [RCV003502579]	likely benign	20	3916917	3916917	Human	1	name
150505005	CV1211513	single nucleotide variant	NM_001386393.1(PANK2):c.1206+264C>T	not provided [RCV001595678]	benign	20	3917314	3917314	Human		name
150455015	CV1220392	duplication	NM_001386393.1(PANK2):c.1207-300dup	not provided [RCV001612485]	benign	20	3918362	3918363	Human		name
150449889	CV1254038	single nucleotide variant	NM_001386393.1(PANK2):c.1333-257C>T	not provided [RCV001667675]	benign	20	3922987	3922987	Human		name
150451717	CV1254863	single nucleotide variant	NM_001386393.1(PANK2):c.1332+300G>A	not provided [RCV001667922]	benign	20	3919096	3919096	Human		name
150460528	CV1264187	single nucleotide variant	NM_001386393.1(PANK2):c.1332+197G>A	not provided [RCV001682103]	benign	20	3918993	3918993	Human		name
150484567	CV1280501	single nucleotide variant	NM_001386393.1(PANK2):c.1082+109A>G	not provided [RCV001715408]	benign	20	3912743	3912743	Human		name
405029969	CV3030320	single nucleotide variant	NM_153638.4(PANK2):c.7A>C (p.Arg3=)	Pigmentary pallidal degeneration [RCV003611096]	likely benign	20	3889107	3889107	Human	1	name
405030005	CV3042082	single nucleotide variant	NM_153638.4(PANK2):c.9G>A (p.Arg3=)	Pigmentary pallidal degeneration [RCV003611262]	likely benign	20	3889109	3889109	Human	1	name
616933597	CV4013523	single nucleotide variant	NM_001386393.1(PANK2):c.299-6383A>G	Pigmentary pallidal degeneration [RCV005411085]	pathogenic	20	3901543	3901543	Human	1	name
11637098	CV271021	single nucleotide variant	NM_153638.4(PANK2):c.12C>T (p.Leu4=)	Pigmentary pallidal degeneration [RCV001454628]\|not provided [RCV000278980]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	3889112	3889112	Human	1	name
405030938	CV3010626	single nucleotide variant	NM_153638.4(PANK2):c.12C>G (p.Leu4=)	Pigmentary pallidal degeneration [RCV003613396]	likely benign	20	3889112	3889112	Human	1	name
405030091	CV3054025	single nucleotide variant	NM_153638.4(PANK2):c.18C>T (p.Pro6=)	Pigmentary pallidal degeneration [RCV003611374]	likely benign	20	3889118	3889118	Human	1	name
405030409	CV3072050	single nucleotide variant	NM_153638.4(PANK2):c.24C>T (p.His8=)	Pigmentary pallidal degeneration [RCV003612463]	likely benign	20	3889124	3889124	Human	1	name
405078182	CV3156234	microsatellite	NM_001386393.1(PANK2):c.1082+12TG[4]	Pigmentary pallidal degeneration [RCV003851292]	likely benign	20	3912645	3912646	Human		name
8643438	CV102421	single nucleotide variant	NM_153638.4(PANK2):c.96C>T (p.Thr32=)	Pigmentary pallidal degeneration [RCV002514447]\|not provided [RCV000082680]	likely benign\|uncertain significance	20	3889196	3889196	Human	1	name
127323117	CV1149444	single nucleotide variant	NM_153638.4(PANK2):c.66G>T (p.Gly22=)	Pigmentary pallidal degeneration [RCV001485158]	likely benign	20	3889166	3889166	Human	1	name
151819024	CV1390658	deletion	NM_001386393.1(PANK2):c.906-99_929del	Pigmentary pallidal degeneration [RCV001954573]	pathogenic	20	3912355	3912477	Human	1	name
152047395	CV1634715	single nucleotide variant	NM_153638.4(PANK2):c.48G>A (p.Pro16=)	Pigmentary pallidal degeneration [RCV002096888]	likely benign	20	3889148	3889148	Human	1	name
156172853	CV1881380	single nucleotide variant	NM_153638.4(PANK2):c.66G>A (p.Gly22=)	Pigmentary pallidal degeneration [RCV003083289]	likely benign	20	3889166	3889166	Human	1	name
156231290	CV1885133	single nucleotide variant	NM_153638.4(PANK2):c.30C>T (p.Arg10=)	PANK2-related disorder [RCV003943753]\|Pigmentary pallidal degeneration [RCV003085376]	likely benign	20	3889130	3889130	Human	2	name , trait , alternate_id
156216493	CV2028687	single nucleotide variant	NM_153638.4(PANK2):c.99G>A (p.Arg33=)	Pigmentary pallidal degeneration [RCV002711973]	likely benign	20	3889199	3889199	Human	1	name
329350709	CV2476857	single nucleotide variant	NM_153638.4(PANK2):c.69A>C (p.Leu23=)	not provided [RCV003223089]	likely benign	20	3889169	3889169	Human		name
402483123	CV2899683	single nucleotide variant	NM_153638.4(PANK2):c.69A>G (p.Leu23=)	Pigmentary pallidal degeneration [RCV003502117]	likely benign	20	3889169	3889169	Human	1	name
405031957	CV2953493	single nucleotide variant	NM_153638.4(PANK2):c.81C>G (p.Leu27=)	Pigmentary pallidal degeneration [RCV003611871]	likely benign	20	3889181	3889181	Human	1	name
405030184	CV3051807	single nucleotide variant	NM_153638.4(PANK2):c.84C>T (p.Phe28=)	Pigmentary pallidal degeneration [RCV003611460]	likely benign	20	3889184	3889184	Human	1	name
405031923	CV3055986	single nucleotide variant	NM_153638.4(PANK2):c.42G>A (p.Ala14=)	Pigmentary pallidal degeneration [RCV003611994]	likely benign	20	3889142	3889142	Human	1	name
405031423	CV3070301	single nucleotide variant	NM_153638.4(PANK2):c.45G>A (p.Ala15=)	Pigmentary pallidal degeneration [RCV003612276]	likely benign	20	3889145	3889145	Human	1	name
402519614	CV3175360	single nucleotide variant	NM_153638.4(PANK2):c.66G>C (p.Gly22=)	Pigmentary pallidal degeneration [RCV003879643]	likely benign	20	3889166	3889166	Human	1	name
11662133	CV335385	single nucleotide variant	NM_153638.4(PANK2):c.54A>G (p.Ser18=)	Pigmentary pallidal degeneration [RCV000383282]	conflicting interpretations of pathogenicity\|uncertain significance	20	3889154	3889154	Human	1	name
597856126	CV3851775	single nucleotide variant	NM_153638.4(PANK2):c.36T>C (p.His12=)	Pigmentary pallidal degeneration [RCV005206243]	likely benign	20	3889136	3889136	Human	1	name
13809225	CV575096	single nucleotide variant	NM_153638.4(PANK2):c.9G>T (p.Arg3Ser)	Inborn genetic diseases [RCV002544786]\|Pigmentary pallidal degeneration [RCV000687659]	uncertain significance	20	3889109	3889109	Human	2	name
152048744	CV1561558	single nucleotide variant	NM_153638.4(PANK2):c.114C>T (p.Thr38=)	Pigmentary pallidal degeneration [RCV002108478]	likely benign	20	3889214	3889214	Human	1	name
152048623	CV1608836	single nucleotide variant	NM_153638.4(PANK2):c.285C>T (p.Leu95=)	Pigmentary pallidal degeneration [RCV002107613]	likely benign	20	3889385	3889385	Human	1	name
156294811	CV1922986	single nucleotide variant	NM_153638.4(PANK2):c.129C>T (p.Pro43=)	Pigmentary pallidal degeneration [RCV002647355]	likely benign	20	3889229	3889229	Human	1	name
156309424	CV1925001	single nucleotide variant	NM_153638.4(PANK2):c.14G>A (p.Gly5Glu)	Pigmentary pallidal degeneration [RCV002629673]	uncertain significance	20	3889114	3889114	Human	1	name
156180561	CV2001344	single nucleotide variant	NM_153638.4(PANK2):c.117C>A (p.Thr39=)	Pigmentary pallidal degeneration [RCV002643010]	likely benign	20	3889217	3889217	Human	1	name
156015682	CV2010182	deletion	NM_001386393.1(PANK2):c.298+3_298+6del	Pigmentary pallidal degeneration [RCV002735127]	uncertain significance	20	3889729	3889732	Human	1	name
156213093	CV2037044	single nucleotide variant	NM_153638.4(PANK2):c.219A>G (p.Pro73=)	Pigmentary pallidal degeneration [RCV002790324]	likely benign	20	3889319	3889319	Human	1	name
402483636	CV2871108	single nucleotide variant	NM_153638.4(PANK2):c.243G>T (p.Ala81=)	Pigmentary pallidal degeneration [RCV003503674]	likely benign	20	3889343	3889343	Human	1	name
402483626	CV2874438	single nucleotide variant	NM_153638.4(PANK2):c.252C>T (p.Arg84=)	Pigmentary pallidal degeneration [RCV003503666]	likely benign	20	3889352	3889352	Human	1	name
402483645	CV2874714	single nucleotide variant	NM_153638.4(PANK2):c.189G>A (p.Pro63=)	Pigmentary pallidal degeneration [RCV003503705]	likely benign	20	3889289	3889289	Human	1	name
402483666	CV2878901	single nucleotide variant	NM_153638.4(PANK2):c.273G>C (p.Pro91=)	Pigmentary pallidal degeneration [RCV003503796]	likely benign	20	3889373	3889373	Human	1	name
402483806	CV2890468	single nucleotide variant	NM_153638.4(PANK2):c.222C>G (p.Ala74=)	Pigmentary pallidal degeneration [RCV003504435]	likely benign	20	3889322	3889322	Human	1	name
402483131	CV2903759	single nucleotide variant	NM_153638.4(PANK2):c.123C>T (p.Ser41=)	Pigmentary pallidal degeneration [RCV003502280]	likely benign	20	3889223	3889223	Human	1	name
402483415	CV2913715	single nucleotide variant	NM_153638.4(PANK2):c.108C>T (p.Ser36=)	Pigmentary pallidal degeneration [RCV003502996]	likely benign	20	3889208	3889208	Human	1	name
405066173	CV2945814	single nucleotide variant	NM_001386393.1(PANK2):c.9C>T (p.Gly3=)	Pigmentary pallidal degeneration [RCV003611819]	likely benign	20	3889439	3889439	Human	1	name
405030578	CV2977331	single nucleotide variant	NM_153638.4(PANK2):c.264C>T (p.Gly88=)	Pigmentary pallidal degeneration [RCV003612738]	likely benign	20	3889364	3889364	Human	1	name
405083299	CV2992583	single nucleotide variant	NM_001386393.1(PANK2):c.6G>C (p.Gly2=)	Pigmentary pallidal degeneration [RCV003613120]	likely benign	20	3889436	3889436	Human	1	name
405030710	CV3001229	single nucleotide variant	NM_153638.4(PANK2):c.213G>C (p.Pro71=)	Pigmentary pallidal degeneration [RCV003612966]	likely benign	20	3889313	3889313	Human	1	name
405030063	CV3043797	single nucleotide variant	NM_153638.4(PANK2):c.114C>A (p.Thr38=)	Pigmentary pallidal degeneration [RCV003611365]	likely benign	20	3889214	3889214	Human	1	name
405031847	CV3065149	single nucleotide variant	NM_153638.4(PANK2):c.153C>T (p.Asp51=)	Pigmentary pallidal degeneration [RCV003612146]	likely benign	20	3889253	3889253	Human	1	name
405070675	CV3068898	single nucleotide variant	NM_001386393.1(PANK2):c.6G>A (p.Gly2=)	Pigmentary pallidal degeneration [RCV003612159]\|not provided [RCV005255770]	likely benign\|uncertain significance	20	3889436	3889436	Human	1	name
405031186	CV3070406	single nucleotide variant	NM_153638.4(PANK2):c.141C>T (p.Ser47=)	Pigmentary pallidal degeneration [RCV003612280]	likely benign	20	3889241	3889241	Human	1	name
405031797	CV3075361	single nucleotide variant	NM_153638.4(PANK2):c.273G>A (p.Pro91=)	Pigmentary pallidal degeneration [RCV003612259]	likely benign	20	3889373	3889373	Human	1	name
405212449	CV3127504	single nucleotide variant	NM_153638.4(PANK2):c.126G>T (p.Pro42=)	Pigmentary pallidal degeneration [RCV003823552]	likely benign	20	3889226	3889226	Human	1	name
405074789	CV3156103	single nucleotide variant	NM_153638.4(PANK2):c.258A>C (p.Gly86=)	Pigmentary pallidal degeneration [RCV003851161]	likely benign	20	3889358	3889358	Human	1	name
405194690	CV3167682	single nucleotide variant	NM_153638.4(PANK2):c.148T>C (p.Leu50=)	Pigmentary pallidal degeneration [RCV003860088]	likely benign	20	3889248	3889248	Human	1	name
402484043	CV3171225	deletion	NM_001386393.1(PANK2):c.652-9_652-5del	Pigmentary pallidal degeneration [RCV003876252]	likely benign	20	3910565	3910569	Human	1	name
402467045	CV3177837	single nucleotide variant	NM_153638.4(PANK2):c.105C>T (p.Pro35=)	Pigmentary pallidal degeneration [RCV003873275]	likely benign	20	3889205	3889205	Human	1	name
597842461	CV3743508	single nucleotide variant	NM_153638.4(PANK2):c.120C>T (p.Leu40=)	Pigmentary pallidal degeneration [RCV005060858]	likely benign	20	3889220	3889220	Human	1	name
597850695	CV3799529	single nucleotide variant	NM_153638.4(PANK2):c.222C>A (p.Ala74=)	Pigmentary pallidal degeneration [RCV005150196]	likely benign	20	3889322	3889322	Human	1	name
597852878	CV3824641	single nucleotide variant	NM_153638.4(PANK2):c.274A>C (p.Arg92=)	Pigmentary pallidal degeneration [RCV005173680]	likely benign	20	3889374	3889374	Human	1	name
598242794	CV3894362	single nucleotide variant	NM_153638.4(PANK2):c.126G>C (p.Pro42=)	not provided [RCV005257605]	likely benign	20	3889226	3889226	Human		name
13446184	CV438204	single nucleotide variant	NM_153638.4(PANK2):c.276G>A (p.Arg92=)	Pigmentary pallidal degeneration [RCV001085459]\|not provided [RCV000513379]\|not specified [RCV000517643]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	3889376	3889376	Human	1	name
21068119	CV797982	single nucleotide variant	NM_153638.4(PANK2):c.159C>T (p.Gly53=)	Pigmentary pallidal degeneration [RCV001858861]\|not provided [RCV000997738]	likely benign\|uncertain significance	20	3889259	3889259	Human	1	name
150543142	CV1315110	duplication	NM_001386393.1(PANK2):c.8dup (p.Leu5fs)	Pigmentary pallidal degeneration [RCV005055022]\|not provided [RCV001782566]	likely pathogenic	20	3889432	3889433	Human	1	name
151773329	CV1352572	single nucleotide variant	NM_153638.4(PANK2):c.95C>T (p.Thr32Ile)	Inborn genetic diseases [RCV002551084]\|Pigmentary pallidal degeneration [RCV001870953]\|not provided [RCV005416561]	uncertain significance	20	3889195	3889195	Human	2	name
151803583	CV1513450	single nucleotide variant	NM_153638.4(PANK2):c.55C>T (p.Leu19Phe)	Pigmentary pallidal degeneration [RCV001927977]	uncertain significance	20	3889155	3889155	Human	1	name
151721010	CV1517001	single nucleotide variant	NM_153638.4(PANK2):c.79C>A (p.Leu27Ile)	Inborn genetic diseases [RCV004956180]\|Pigmentary pallidal degeneration [RCV002038366]	uncertain significance	20	3889179	3889179	Human	2	name
156158154	CV1872101	single nucleotide variant	NM_153638.4(PANK2):c.58T>C (p.Ser20Pro)	Pigmentary pallidal degeneration [RCV003056792]	uncertain significance	20	3889158	3889158	Human	1	name
156300624	CV1916069	single nucleotide variant	NM_153638.4(PANK2):c.38G>A (p.Trp13Ter)	Pigmentary pallidal degeneration [RCV002599153]\|Retinal dystrophy [RCV004818226]	pathogenic\|uncertain significance	20	3889138	3889138	Human	3	name
156390885	CV2383532	single nucleotide variant	NM_153638.4(PANK2):c.76C>T (p.Leu26Phe)	Inborn genetic diseases [RCV002724711]	uncertain significance	20	3889176	3889176	Human	1	name
11640878	CV273265	single nucleotide variant	NM_153638.4(PANK2):c.31G>A (p.Val11Ile)	Pigmentary pallidal degeneration [RCV001859692]\|not provided [RCV000345784]	uncertain significance	20	3889131	3889131	Human	1	name
402483774	CV2892406	single nucleotide variant	NM_153638.4(PANK2):c.89G>C (p.Arg30Pro)	Pigmentary pallidal degeneration [RCV003504252]	likely benign	20	3889189	3889189	Human	1	name
405132778	CV2907450	single nucleotide variant	NM_001386393.1(PANK2):c.27A>T (p.Arg9=)	Pigmentary pallidal degeneration [RCV003502323]	likely benign	20	3889457	3889457	Human	1	name
405059077	CV3037997	single nucleotide variant	NM_001386393.1(PANK2):c.27A>G (p.Arg9=)	Pigmentary pallidal degeneration [RCV003611192]	likely benign	20	3889457	3889457	Human	1	name
405223483	CV3158423	single nucleotide variant	NM_001386393.1(PANK2):c.15C>T (p.Leu5=)	Pigmentary pallidal degeneration [RCV003863919]	likely benign	20	3889445	3889445	Human	1	name
597698869	CV3571175	single nucleotide variant	NM_153638.4(PANK2):c.74G>T (p.Arg25Leu)	Inborn genetic diseases [RCV004956877]	uncertain significance	20	3889174	3889174	Human	1	name
597887919	CV3809510	single nucleotide variant	NM_001386393.1(PANK2):c.15C>G (p.Leu5=)	Pigmentary pallidal degeneration [RCV005162235]	likely benign	20	3889445	3889445	Human	1	name
598259092	CV4005775	single nucleotide variant	NM_153638.4(PANK2):c.86T>G (p.Leu29Arg)	Inborn genetic diseases [RCV005386415]	uncertain significance	20	3889186	3889186	Human	1	name
616935496	CV4016076	single nucleotide variant	NM_153638.4(PANK2):c.59C>T (p.Ser20Phe)	not provided [RCV005414942]	uncertain significance	20	3889159	3889159	Human		name
14715365	CV648661	single nucleotide variant	NM_153638.4(PANK2):c.37T>C (p.Trp13Arg)	Inborn genetic diseases [RCV004028022]\|Pigmentary pallidal degeneration [RCV000800323]	uncertain significance	20	3889137	3889137	Human	2	name
14714408	CV648662	deletion	NM_153638.4(PANK2):c.126del (p.Arg44fs)	Pigmentary pallidal degeneration [RCV000796539]	pathogenic\|uncertain significance	20	3889226	3889226	Human	1	name
15106345	CV728650	single nucleotide variant	NM_001386393.1(PANK2):c.18G>A (p.Gly6=)	Pigmentary pallidal degeneration [RCV000893261]	likely benign\|conflicting interpretations of pathogenicity	20	3889448	3889448	Human	1	name
21067076	CV793838	single nucleotide variant	NM_153638.4(PANK2):c.61T>C (p.Ser21Pro)	not provided [RCV000992501]	uncertain significance	20	3889161	3889161	Human		name
38474597	CV938973	single nucleotide variant	NM_153638.4(PANK2):c.34C>T (p.His12Tyr)	Inborn genetic diseases [RCV004033593]\|Pigmentary pallidal degeneration [RCV001203887]\|not specified [RCV003994233]	likely benign\|uncertain significance	20	3889134	3889134	Human	2	name
126735503	CV1014126	single nucleotide variant	NM_153638.4(PANK2):c.283C>T (p.Leu95Phe)	Pigmentary pallidal degeneration [RCV001316830]\|not provided [RCV001573141]	likely benign\|uncertain significance	20	3889383	3889383	Human	1	name
126735594	CV1014127	single nucleotide variant	NM_001386393.1(PANK2):c.8G>T (p.Gly3Val)	Pigmentary pallidal degeneration [RCV001317637]	uncertain significance	20	3889438	3889438	Human	1	name
150481737	CV1244155	single nucleotide variant	NM_001386393.1(PANK2):c.5G>A (p.Gly2Glu)	Inborn genetic diseases [RCV004039552]\|Pigmentary pallidal degeneration [RCV001903934]\|not provided [RCV001653001]	uncertain significance	20	3889435	3889435	Human	2	name
151795200	CV1379089	single nucleotide variant	NM_153638.4(PANK2):c.187C>T (p.Pro63Ser)	Pigmentary pallidal degeneration [RCV001911636]\|not provided [RCV004793584]	uncertain significance	20	3889287	3889287	Human	1	name
151802066	CV1392602	single nucleotide variant	NM_153638.4(PANK2):c.239C>T (p.Pro80Leu)	Pigmentary pallidal degeneration [RCV001925254]	uncertain significance	20	3889339	3889339	Human	1	name
151820420	CV1405168	single nucleotide variant	NM_153638.4(PANK2):c.113C>A (p.Thr38Asn)	Pigmentary pallidal degeneration [RCV001962311]	uncertain significance	20	3889213	3889213	Human	1	name
151721445	CV1420778	single nucleotide variant	NM_153638.4(PANK2):c.200A>C (p.Glu67Ala)	Pigmentary pallidal degeneration [RCV002039959]	uncertain significance	20	3889300	3889300	Human	1	name
151725569	CV1466034	single nucleotide variant	NM_153638.4(PANK2):c.160A>G (p.Thr54Ala)	Pigmentary pallidal degeneration [RCV002050642]	uncertain significance	20	3889260	3889260	Human	1	name
151881755	CV1484336	single nucleotide variant	NM_001386393.1(PANK2):c.7G>A (p.Gly3Ser)	Pigmentary pallidal degeneration [RCV001941151]	uncertain significance	20	3889437	3889437	Human	1	name
151826257	CV1500720	single nucleotide variant	NM_153638.4(PANK2):c.245G>A (p.Arg82His)	Inborn genetic diseases [RCV005382292]\|Pigmentary pallidal degeneration [RCV001974516]	uncertain significance	20	3889345	3889345	Human	2	name
156384254	CV1883439	single nucleotide variant	NM_001386393.1(PANK2):c.33G>A (p.Leu11=)	Pigmentary pallidal degeneration [RCV003093545]\|not provided [RCV005242302]	likely benign	20	3889463	3889463	Human	1	name
155977899	CV1886194	single nucleotide variant	NM_153638.4(PANK2):c.118C>T (p.Leu40Phe)	Pigmentary pallidal degeneration [RCV003075506]	uncertain significance	20	3889218	3889218	Human	1	name
156141927	CV1898600	single nucleotide variant	NM_153638.4(PANK2):c.209G>C (p.Gly70Ala)	Inborn genetic diseases [RCV003274228]\|Pigmentary pallidal degeneration [RCV003082235]	uncertain significance	20	3889309	3889309	Human	2	name
156306687	CV1931430	single nucleotide variant	NM_001386393.1(PANK2):c.99C>T (p.Ser33=)	Pigmentary pallidal degeneration [RCV002647925]	likely benign	20	3889529	3889529	Human	1	name
156255557	CV1977321	single nucleotide variant	NM_153638.4(PANK2):c.172C>T (p.Pro58Ser)	Inborn genetic diseases [RCV004958616]\|Pigmentary pallidal degeneration [RCV002597612]	uncertain significance	20	3889272	3889272	Human	2	name
156082743	CV2098764	deletion	NM_001386393.1(PANK2):c.906-21_906-19del	Pigmentary pallidal degeneration [RCV002912757]	likely benign	20	3912436	3912438	Human	1	name
156056046	CV2102016	single nucleotide variant	NM_153638.4(PANK2):c.280C>A (p.Arg94Ser)	Pigmentary pallidal degeneration [RCV002886329]	uncertain significance	20	3889380	3889380	Human	1	name
155991760	CV2276628	single nucleotide variant	NM_153638.4(PANK2):c.207T>G (p.Phe69Leu)	Inborn genetic diseases [RCV002864571]	uncertain significance	20	3889307	3889307	Human	1	name
329349957	CV2438540	single nucleotide variant	NM_153638.4(PANK2):c.251G>A (p.Arg84His)	Inborn genetic diseases [RCV003197597]	uncertain significance	20	3889351	3889351	Human	1	name
329350711	CV2476858	single nucleotide variant	NM_153638.4(PANK2):c.283C>G (p.Leu95Val)	not provided [RCV003223090]	uncertain significance	20	3889383	3889383	Human		name
11642250	CV271745	single nucleotide variant	NM_153638.4(PANK2):c.131G>T (p.Arg44Leu)	Pigmentary pallidal degeneration [RCV001859667]\|not provided [RCV000371598]	uncertain significance	20	3889231	3889231	Human	1	name
11641593	CV274190	single nucleotide variant	NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)	PANK2-related disorder [RCV003957511]\|Pigmentary pallidal degeneration [RCV001141449]\|not provided [RCV000359501]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	3889380	3889380	Human	2	name , trait , alternate_id
401961980	CV2844551	single nucleotide variant	NM_153638.4(PANK2):c.227C>T (p.Ser76Leu)	not provided [RCV003480347]	uncertain significance	20	3889327	3889327	Human		name
402468105	CV2875127	deletion	NM_001386393.1(PANK2):c.906-18_906-15del	Pigmentary pallidal degeneration [RCV003503758]	likely benign	20	3912438	3912441	Human	1	name
405130953	CV2895796	single nucleotide variant	NM_001386393.1(PANK2):c.90C>A (p.Ser30=)	Pigmentary pallidal degeneration [RCV003502131]	likely benign	20	3889520	3889520	Human	1	name
405133109	CV2897564	single nucleotide variant	NM_001386393.1(PANK2):c.63G>C (p.Ala21=)	Pigmentary pallidal degeneration [RCV003502357]	likely benign	20	3889493	3889493	Human	1	name
405130664	CV2902176	single nucleotide variant	NM_001386393.1(PANK2):c.96C>T (p.Thr32=)	Pigmentary pallidal degeneration [RCV003502102]	likely benign	20	3889526	3889526	Human	1	name
402465951	CV2914908	single nucleotide variant	NM_001386393.1(PANK2):c.30G>A (p.Leu10=)	Pigmentary pallidal degeneration [RCV003503143]	likely benign	20	3889460	3889460	Human	1	name
402465712	CV2916792	single nucleotide variant	NM_001386393.1(PANK2):c.60C>T (p.Gly20=)	Pigmentary pallidal degeneration [RCV003503083]	likely benign	20	3889490	3889490	Human	1	name
405064679	CV2946832	single nucleotide variant	NM_001386393.1(PANK2):c.39G>T (p.Arg13=)	Pigmentary pallidal degeneration [RCV003611701]	likely benign	20	3889469	3889469	Human	1	name
405066130	CV2949053	single nucleotide variant	NM_001386393.1(PANK2):c.87T>G (p.Ala29=)	Pigmentary pallidal degeneration [RCV003611816]	likely benign	20	3889517	3889517	Human	1	name
405081223	CV2997845	single nucleotide variant	NM_001386393.1(PANK2):c.81C>T (p.Gly27=)	Pigmentary pallidal degeneration [RCV003612939]	likely benign	20	3889511	3889511	Human	1	name
405086145	CV3009760	single nucleotide variant	NM_001386393.1(PANK2):c.63G>A (p.Ala21=)	Pigmentary pallidal degeneration [RCV003613345]	likely benign	20	3889493	3889493	Human	1	name
405057923	CV3026751	single nucleotide variant	NM_001386393.1(PANK2):c.45A>C (p.Gly15=)	Pigmentary pallidal degeneration [RCV003611071]	likely benign	20	3889475	3889475	Human	1	name
405072569	CV3072810	single nucleotide variant	NM_001386393.1(PANK2):c.34C>T (p.Leu12=)	Pigmentary pallidal degeneration [RCV003612266]	likely benign	20	3889464	3889464	Human	1	name
405072409	CV3078227	single nucleotide variant	NM_001386393.1(PANK2):c.57C>T (p.Leu19=)	Pigmentary pallidal degeneration [RCV003612252]	likely benign	20	3889487	3889487	Human	1	name
405206826	CV3161980	single nucleotide variant	NM_001386393.1(PANK2):c.93C>T (p.Ala31=)	Pigmentary pallidal degeneration [RCV003861474]	likely benign	20	3889523	3889523	Human	1	name
11621403	CV335386	single nucleotide variant	NM_153638.4(PANK2):c.281G>C (p.Arg94Pro)	Pigmentary pallidal degeneration [RCV000348430]\|not provided [RCV000712503]	benign\|likely benign	20	3889381	3889381	Human	1	name
405758699	CV3364043	single nucleotide variant	NM_001386393.1(PANK2):c.5G>C (p.Gly2Ala)	Inborn genetic diseases [RCV004500244]	uncertain significance	20	3889435	3889435	Human	1	name
11627996	CV349946	single nucleotide variant	NM_153638.4(PANK2):c.272C>T (p.Pro91Leu)	Pigmentary pallidal degeneration [RCV000293560]	uncertain significance	20	3889372	3889372	Human	1	name
597698875	CV3571176	single nucleotide variant	NM_153638.4(PANK2):c.260G>C (p.Arg87Thr)	Inborn genetic diseases [RCV004956878]	uncertain significance	20	3889360	3889360	Human	1	name
12906040	CV413598	single nucleotide variant	NM_153638.4(PANK2):c.137A>T (p.Asp46Val)	Pigmentary pallidal degeneration [RCV001081909]\|not provided [RCV000488345]\|not specified [RCV002282169]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	3889237	3889237	Human	1	name
15100618	CV728651	single nucleotide variant	NM_001386393.1(PANK2):c.39G>A (p.Arg13=)	Pigmentary pallidal degeneration [RCV002539397]	likely benign	20	3889469	3889469	Human	1	name
15188284	CV778594	microsatellite	NM_001386393.1(PANK2):c.1083-3_1083-2del	PANK2-related disorder [RCV003970758]\|Pigmentary pallidal degeneration [RCV001479527]\|not specified [RCV002271601]	likely benign\|uncertain significance	20	3916922	3916923	Human		name , trait , alternate_id
28889904	CV886072	single nucleotide variant	NM_153638.4(PANK2):c.104C>T (p.Pro35Leu)	Pigmentary pallidal degeneration [RCV001138861]	uncertain significance	20	3889204	3889204	Human	1	name
28897061	CV886073	single nucleotide variant	NM_153638.4(PANK2):c.283C>A (p.Leu95Ile)	Pigmentary pallidal degeneration [RCV001141450]\|not provided [RCV001310446]	uncertain significance	20	3889383	3889383	Human	1	name
28901733	CV886078	single nucleotide variant	NM_001386393.1(PANK2):c.54G>C (p.Arg18=)	Pigmentary pallidal degeneration [RCV001143295]	conflicting interpretations of pathogenicity\|uncertain significance	20	3889484	3889484	Human	1	name
28901736	CV886079	single nucleotide variant	NM_001386393.1(PANK2):c.66C>T (p.Pro22=)	Pigmentary pallidal degeneration [RCV001143296]	conflicting interpretations of pathogenicity\|uncertain significance	20	3889496	3889496	Human	1	name
126734577	CV999002	single nucleotide variant	NM_153638.4(PANK2):c.272C>G (p.Pro91Arg)	Pigmentary pallidal degeneration [RCV001301748]	uncertain significance	20	3889372	3889372	Human	1	name
126735686	CV1014128	single nucleotide variant	NM_001386393.1(PANK2):c.20G>A (p.Arg7Gln)	Pigmentary pallidal degeneration [RCV001319285]	uncertain significance	20	3889450	3889450	Human	1	name
8643436	CV102419	duplication	NM_001386393.1(PANK2):c.1083-14_1083-9dup	Pigmentary pallidal degeneration [RCV000302058]\|not provided [RCV000675594]\|not specified [RCV000082678]	benign	20	3916912	3916913	Human	1	name
151796303	CV1356015	single nucleotide variant	NM_001386393.1(PANK2):c.25C>G (p.Arg9Gly)	Pigmentary pallidal degeneration [RCV002027676]	uncertain significance	20	3889455	3889455	Human	1	name
151789401	CV1434473	single nucleotide variant	NM_001386393.1(PANK2):c.17G>C (p.Gly6Ala)	Inborn genetic diseases [RCV002547915]\|Pigmentary pallidal degeneration [RCV001876362]	uncertain significance	20	3889447	3889447	Human	2	name
151871817	CV1437091	single nucleotide variant	NM_001386393.1(PANK2):c.207T>A (p.Ala69=)	Pigmentary pallidal degeneration [RCV002035768]	likely benign\|uncertain significance	20	3889637	3889637	Human	1	name
152118998	CV1522491	single nucleotide variant	NM_001386393.1(PANK2):c.201C>A (p.Ala67=)	Pigmentary pallidal degeneration [RCV002081291]\|not provided [RCV004704718]	likely benign	20	3889631	3889631	Human	1	name
152168751	CV1548150	single nucleotide variant	NM_001386393.1(PANK2):c.189C>T (p.Pro63=)	Pigmentary pallidal degeneration [RCV002161224]	likely benign	20	3889619	3889619	Human	1	name
152069561	CV1569959	single nucleotide variant	NM_001386393.1(PANK2):c.291G>A (p.Lys97=)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV002505868]\|Pigmentary pallidal degeneration [RCV002191600]	likely benign	20	3889721	3889721	Human	1	name
152087704	CV1574117	single nucleotide variant	NM_001386393.1(PANK2):c.204G>C (p.Ser68=)	PANK2-related disorder [RCV003895847]\|Pigmentary pallidal degeneration [RCV002150164]	likely benign	20	3889634	3889634	Human	2	name , trait , alternate_id
152149251	CV1593135	single nucleotide variant	NM_001386393.1(PANK2):c.180G>A (p.Ala60=)	Pigmentary pallidal degeneration [RCV002101967]	likely benign	20	3889610	3889610	Human	1	name
152155097	CV1658061	single nucleotide variant	NM_001386393.1(PANK2):c.183G>T (p.Ser61=)	Pigmentary pallidal degeneration [RCV002180025]	likely benign	20	3889613	3889613	Human	1	name
156058651	CV1876059	single nucleotide variant	NM_001386393.1(PANK2):c.108G>A (p.Ser36=)	Pigmentary pallidal degeneration [RCV003053262]\|not provided [RCV003883867]	likely benign	20	3889538	3889538	Human	1	name
156371335	CV2007785	single nucleotide variant	NM_001386393.1(PANK2):c.252C>T (p.Thr84=)	Pigmentary pallidal degeneration [RCV002676927]	likely benign	20	3889682	3889682	Human	1	name
155966011	CV2085650	single nucleotide variant	NM_001386393.1(PANK2):c.141G>T (p.Gly47=)	Pigmentary pallidal degeneration [RCV002881259]	likely benign	20	3889571	3889571	Human	1	name
155995302	CV2095715	single nucleotide variant	NM_001386393.1(PANK2):c.157C>T (p.Leu53=)	Pigmentary pallidal degeneration [RCV002908353]	likely benign	20	3889587	3889587	Human	1	name
155908690	CV2130989	deletion	NM_001386393.1(PANK2):c.1333-29_1333-8del	Pigmentary pallidal degeneration [RCV002967881]	uncertain significance	20	3923213	3923234	Human	1	name
401829657	CV2743906	single nucleotide variant	NM_001386393.1(PANK2):c.273C>G (p.Val91=)	Pigmentary pallidal degeneration [RCV003502724]\|not provided [RCV003327083]	likely benign	20	3889703	3889703	Human	1	name
402468535	CV2869358	single nucleotide variant	NM_001386393.1(PANK2):c.195C>G (p.Val65=)	Pigmentary pallidal degeneration [RCV003503876]	likely benign	20	3889625	3889625	Human	1	name
402470064	CV2886039	single nucleotide variant	NM_001386393.1(PANK2):c.243C>T (p.Ser81=)	Pigmentary pallidal degeneration [RCV003504291]	likely benign	20	3889673	3889673	Human	1	name
402470344	CV2889674	single nucleotide variant	NM_001386393.1(PANK2):c.234C>G (p.Gly78=)	Pigmentary pallidal degeneration [RCV003504369]	likely benign	20	3889664	3889664	Human	1	name
402469628	CV2891505	single nucleotide variant	NM_001386393.1(PANK2):c.280C>T (p.Leu94=)	Pigmentary pallidal degeneration [RCV003504147]	likely benign	20	3889710	3889710	Human	1	name
405131662	CV2896309	single nucleotide variant	NM_001386393.1(PANK2):c.186G>T (p.Val62=)	Pigmentary pallidal degeneration [RCV003502203]	likely benign	20	3889616	3889616	Human	1	name
405133227	CV2908013	single nucleotide variant	NM_001386393.1(PANK2):c.273C>T (p.Val91=)	Pigmentary pallidal degeneration [RCV003502370]	likely benign	20	3889703	3889703	Human	1	name
405133404	CV2912251	single nucleotide variant	NM_001386393.1(PANK2):c.279C>T (p.Ser93=)	Pigmentary pallidal degeneration [RCV003502390]	likely benign	20	3889709	3889709	Human	1	name
402466118	CV2918148	single nucleotide variant	NM_001386393.1(PANK2):c.198G>T (p.Gly66=)	Pigmentary pallidal degeneration [RCV003503214]	likely benign	20	3889628	3889628	Human	1	name
402466935	CV2923181	single nucleotide variant	NM_001386393.1(PANK2):c.192G>T (p.Ala64=)	Pigmentary pallidal degeneration [RCV003503408]	likely benign	20	3889622	3889622	Human	1	name
402466666	CV2931768	single nucleotide variant	NM_001386393.1(PANK2):c.129G>C (p.Gly43=)	Pigmentary pallidal degeneration [RCV003503336]	likely benign	20	3889559	3889559	Human	1	name
405064425	CV2946487	single nucleotide variant	NM_001386393.1(PANK2):c.261C>T (p.Ser87=)	Pigmentary pallidal degeneration [RCV003611681]	likely benign	20	3889691	3889691	Human	1	name
405068236	CV2962433	single nucleotide variant	NM_001386393.1(PANK2):c.186G>A (p.Val62=)	Pigmentary pallidal degeneration [RCV003611967]	likely benign	20	3889616	3889616	Human	1	name
405076800	CV2963880	single nucleotide variant	NM_001386393.1(PANK2):c.126C>T (p.Ala42=)	Pigmentary pallidal degeneration [RCV003612556]	likely benign	20	3889556	3889556	Human	1	name
405080589	CV2989712	single nucleotide variant	NM_001386393.1(PANK2):c.183G>A (p.Ser61=)	Pigmentary pallidal degeneration [RCV003612878]	likely benign	20	3889613	3889613	Human	1	name
405087475	CV3024803	single nucleotide variant	NM_001386393.1(PANK2):c.204G>T (p.Ser68=)	Pigmentary pallidal degeneration [RCV003613455]	likely benign	20	3889634	3889634	Human	1	name
405058001	CV3026994	single nucleotide variant	NM_001386393.1(PANK2):c.216G>A (p.Thr72=)	Pigmentary pallidal degeneration [RCV003611078]	likely benign	20	3889646	3889646	Human	1	name
405057621	CV3029820	single nucleotide variant	NM_001386393.1(PANK2):c.192G>A (p.Ala64=)	Pigmentary pallidal degeneration [RCV003611041]	likely benign	20	3889622	3889622	Human	1	name
405059429	CV3030313	single nucleotide variant	NM_001386393.1(PANK2):c.192G>C (p.Ala64=)	Pigmentary pallidal degeneration [RCV003611095]	likely benign	20	3889622	3889622	Human	1	name
405058953	CV3032357	single nucleotide variant	NM_001386393.1(PANK2):c.105G>T (p.Ser35=)	Pigmentary pallidal degeneration [RCV003611183]	likely benign	20	3889535	3889535	Human	1	name
405060667	CV3034289	single nucleotide variant	NM_001386393.1(PANK2):c.102C>G (p.Val34=)	Pigmentary pallidal degeneration [RCV003611298]	likely benign	20	3889532	3889532	Human	1	name
405068796	CV3052398	duplication	NM_001386393.1(PANK2):c.1082+9_1082+10dup	Pigmentary pallidal degeneration [RCV003612005]	likely benign	20	3912642	3912643	Human	1	name
405069744	CV3057790	single nucleotide variant	NM_001386393.1(PANK2):c.240C>T (p.Tyr80=)	Pigmentary pallidal degeneration [RCV003612096]	likely benign	20	3889670	3889670	Human	1	name
405070249	CV3063740	single nucleotide variant	NM_001386393.1(PANK2):c.246C>T (p.Gly82=)	Pigmentary pallidal degeneration [RCV003612061]	likely benign	20	3889676	3889676	Human	1	name
405070889	CV3065327	single nucleotide variant	NM_001386393.1(PANK2):c.165C>T (p.Arg55=)	Pigmentary pallidal degeneration [RCV003612174]	likely benign	20	3889595	3889595	Human	1	name
405073467	CV3070817	single nucleotide variant	NM_001386393.1(PANK2):c.145C>A (p.Arg49=)	Pigmentary pallidal degeneration [RCV003612330]	likely benign	20	3889575	3889575	Human	1	name
405075194	CV3072192	single nucleotide variant	NM_001386393.1(PANK2):c.171G>C (p.Ala57=)	Pigmentary pallidal degeneration [RCV003612470]	likely benign	20	3889601	3889601	Human	1	name
405037598	CV3130918	single nucleotide variant	NM_001386393.1(PANK2):c.252C>A (p.Thr84=)	Pigmentary pallidal degeneration [RCV003831136]	likely benign	20	3889682	3889682	Human	1	name
402485795	CV3171384	single nucleotide variant	NM_001386393.1(PANK2):c.270C>T (p.Arg90=)	Pigmentary pallidal degeneration [RCV003876411]	likely benign	20	3889700	3889700	Human	1	name
405260430	CV3204097	single nucleotide variant	NM_001386393.1(PANK2):c.117G>A (p.Glu39=)	PANK2-related disorder [RCV003943968]	likely benign	20	3889547	3889547	Human		name , trait , alternate_id
11629862	CV345210	single nucleotide variant	NM_001386393.1(PANK2):c.189C>G (p.Pro63=)	Pigmentary pallidal degeneration [RCV000335556]\|not provided [RCV000676174]	benign\|likely benign	20	3889619	3889619	Human	1	name
597651864	CV3720736	deletion	NM_001386393.1(PANK2):c.31del (p.Leu11fs)	Pigmentary pallidal degeneration [RCV005026932]	likely pathogenic	20	3889461	3889461	Human	1	name
597862348	CV3798879	single nucleotide variant	NM_001386393.1(PANK2):c.195C>T (p.Val65=)	Pigmentary pallidal degeneration [RCV005136453]	likely benign	20	3889625	3889625	Human	1	name
12893541	CV410752	deletion	NM_153638.4(PANK2):c.42_67del (p.Ala15fs)	Pigmentary pallidal degeneration [RCV001731712]\|not provided [RCV000479319]	likely pathogenic\|conflicting interpretations of pathogenicity	20	3889137	3889162	Human	1	name
13522237	CV491799	single nucleotide variant	NM_001386393.1(PANK2):c.294G>A (p.Arg98=)	Pigmentary pallidal degeneration [RCV002062067]\|not provided [RCV000591482]	likely benign\|uncertain significance	20	3889724	3889724	Human	1	name
13786838	CV549800	single nucleotide variant	NM_001386393.1(PANK2):c.201C>T (p.Ala67=)	Pigmentary pallidal degeneration [RCV002532169]\|not provided [RCV000675589]	likely benign	20	3889631	3889631	Human	1	name
13788140	CV550096	single nucleotide variant	NM_001386393.1(PANK2):c.132C>T (p.Asp44=)	Pigmentary pallidal degeneration [RCV001519497]\|not provided [RCV000676173]	benign\|likely benign	20	3889562	3889562	Human	1	name
15190039	CV705481	single nucleotide variant	NM_001386393.1(PANK2):c.198G>A (p.Gly66=)	Pigmentary pallidal degeneration [RCV002547253]	likely benign	20	3889628	3889628	Human	1	name
15182286	CV705482	single nucleotide variant	NM_001386393.1(PANK2):c.255G>T (p.Ser85=)	Pigmentary pallidal degeneration [RCV000952180]\|not provided [RCV002462235]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	3889685	3889685	Human	1	name
15173807	CV742400	single nucleotide variant	NM_001386393.1(PANK2):c.108G>C (p.Ser36=)	Pigmentary pallidal degeneration [RCV000905896]\|not provided [RCV002275175]	likely benign	20	3889538	3889538	Human	1	name
15200018	CV757516	single nucleotide variant	NM_001386393.1(PANK2):c.258C>G (p.Val86=)	Pigmentary pallidal degeneration [RCV000912721]	likely benign\|conflicting interpretations of pathogenicity	20	3889688	3889688	Human	1	name
28901729	CV886077	single nucleotide variant	NM_001386393.1(PANK2):c.11T>C (p.Leu4Ser)	Pigmentary pallidal degeneration [RCV001143294]	uncertain significance	20	3889441	3889441	Human	1	name
28882752	CV886080	single nucleotide variant	NM_001386393.1(PANK2):c.255G>A (p.Ser85=)	Pigmentary pallidal degeneration [RCV001136716]	conflicting interpretations of pathogenicity\|uncertain significance	20	3889685	3889685	Human	1	name
38478973	CV929179	single nucleotide variant	NM_001386393.1(PANK2):c.25C>T (p.Arg9Ter)	Pigmentary pallidal degeneration [RCV001216862]\|not provided [RCV001529170]	pathogenic\|uncertain significance	20	3889455	3889455	Human	1	name
8643437	CV102420	single nucleotide variant	NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV001787900]\|Pigmentary pallidal degeneration [RCV000313320]\|not provided [RCV000675588]\|not specified [RCV000082679]	benign	20	3889477	3889477	Human	1	name
127241883	CV1085335	single nucleotide variant	NM_001386393.1(PANK2):c.816G>A (p.Pro272=)	Pigmentary pallidal degeneration [RCV001398086]	likely benign	20	3910741	3910741	Human	1	name
127261087	CV1086993	single nucleotide variant	NM_001386393.1(PANK2):c.67A>G (p.Met23Val)	Pigmentary pallidal degeneration [RCV001420152]\|not specified [RCV004526850]	pathogenic\|uncertain significance	20	3889497	3889497	Human	1	name
127234443	CV1107037	single nucleotide variant	NM_001386393.1(PANK2):c.474C>T (p.Leu158=)	Pigmentary pallidal degeneration [RCV001422044]	likely benign	20	3908101	3908101	Human	1	name
150486521	CV1251370	duplication	NM_001386393.1(PANK2):c.652-271_652-270dup	not provided [RCV001674041]	benign	20	3910295	3910296	Human		name
151801119	CV1378726	single nucleotide variant	NM_001386393.1(PANK2):c.49G>A (p.Gly17Ser)	Pigmentary pallidal degeneration [RCV001877381]	uncertain significance	20	3889479	3889479	Human	1	name
151860760	CV1386075	single nucleotide variant	NM_001386393.1(PANK2):c.55C>T (p.Leu19Phe)	Pigmentary pallidal degeneration [RCV001905248]	likely benign\|uncertain significance	20	3889485	3889485	Human	1	name
151744088	CV1408596	single nucleotide variant	NM_001386393.1(PANK2):c.37C>T (p.Arg13Trp)	Inborn genetic diseases [RCV004956108]\|Pigmentary pallidal degeneration [RCV002042536]	uncertain significance	20	3889467	3889467	Human	2	name
151861652	CV1423434	single nucleotide variant	NM_001386393.1(PANK2):c.78C>A (p.His26Gln)	Pigmentary pallidal degeneration [RCV001997206]	uncertain significance	20	3889508	3889508	Human	1	name
151709850	CV1433372	single nucleotide variant	NM_001386393.1(PANK2):c.67A>C (p.Met23Leu)	Pigmentary pallidal degeneration [RCV002001728]	uncertain significance	20	3889497	3889497	Human	1	name
151883132	CV1475046	single nucleotide variant	NM_001386393.1(PANK2):c.55C>G (p.Leu19Val)	Pigmentary pallidal degeneration [RCV001941442]	uncertain significance	20	3889485	3889485	Human	1	name
152158018	CV1542149	single nucleotide variant	NM_001386393.1(PANK2):c.585G>A (p.Ser195=)	Pigmentary pallidal degeneration [RCV002202940]	likely benign	20	3908212	3908212	Human	1	name
152163112	CV1561170	single nucleotide variant	NM_001386393.1(PANK2):c.726C>T (p.Val242=)	Pigmentary pallidal degeneration [RCV002104174]	likely benign	20	3910651	3910651	Human	1	name
152030153	CV1568915	single nucleotide variant	NM_001386393.1(PANK2):c.600C>G (p.Val200=)	Pigmentary pallidal degeneration [RCV002186389]	likely benign	20	3908227	3908227	Human	1	name
152052240	CV1617377	single nucleotide variant	NM_001386393.1(PANK2):c.978A>G (p.Glu326=)	Pigmentary pallidal degeneration [RCV002072523]	likely benign	20	3912530	3912530	Human	1	name
152104319	CV1624657	single nucleotide variant	NM_001386393.1(PANK2):c.624G>T (p.Ala208=)	Pigmentary pallidal degeneration [RCV002173509]	likely benign	20	3908251	3908251	Human	1	name
152141261	CV1625268	single nucleotide variant	NM_001386393.1(PANK2):c.324C>T (p.Ile108=)	Pigmentary pallidal degeneration [RCV002219402]	likely benign	20	3907951	3907951	Human	1	name
152028665	CV1655339	single nucleotide variant	NM_001386393.1(PANK2):c.618T>G (p.Gly206=)	Pigmentary pallidal degeneration [RCV002105314]	likely benign	20	3908245	3908245	Human	1	name
152056703	CV1656441	single nucleotide variant	NM_001386393.1(PANK2):c.369C>A (p.Ile123=)	Pigmentary pallidal degeneration [RCV002109633]	likely benign	20	3907996	3907996	Human	1	name
153000343	CV1682984	single nucleotide variant	NM_001386393.1(PANK2):c.40A>G (p.Met14Val)	Pigmentary pallidal degeneration [RCV003094116]\|See cases [RCV002252994]	uncertain significance	20	3889470	3889470	Human	1	name
156035252	CV1890115	single nucleotide variant	NM_001386393.1(PANK2):c.47G>A (p.Gly16Glu)	Pigmentary pallidal degeneration [RCV003078287]	likely benign	20	3889477	3889477	Human	1	name
156393712	CV1983460	single nucleotide variant	NM_001386393.1(PANK2):c.676C>T (p.Leu226=)	Pigmentary pallidal degeneration [RCV002604921]	likely benign	20	3910601	3910601	Human	1	name
156291393	CV2047244	deletion	NM_001386393.1(PANK2):c.1206+19_1206+22del	Pigmentary pallidal degeneration [RCV002770786]	likely benign	20	3917066	3917069	Human	1	name
156030335	CV2052216	single nucleotide variant	NM_001386393.1(PANK2):c.73C>T (p.Arg25Cys)	Pigmentary pallidal degeneration [RCV002821036]	uncertain significance	20	3889503	3889503	Human	1	name
156157851	CV2063493	single nucleotide variant	NM_001386393.1(PANK2):c.636G>A (p.Glu212=)	Pigmentary pallidal degeneration [RCV002851097]	likely benign	20	3908263	3908263	Human	1	name
156010662	CV2079656	single nucleotide variant	NM_001386393.1(PANK2):c.522T>C (p.Phe174=)	Pigmentary pallidal degeneration [RCV002866089]	likely benign	20	3908149	3908149	Human	1	name
156109860	CV2108195	single nucleotide variant	NM_001386393.1(PANK2):c.783G>A (p.Lys261=)	Pigmentary pallidal degeneration [RCV002927380]	likely benign	20	3910708	3910708	Human	1	name
11643485	CV270080	single nucleotide variant	NM_001386393.1(PANK2):c.50G>T (p.Gly17Val)	PANK2-related disorder [RCV003947905]\|Pigmentary pallidal degeneration [RCV000631203]\|not provided [RCV001697650]\|not specified [RCV000393838]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	3889480	3889480	Human	2	name , trait , alternate_id
11642476	CV271455	single nucleotide variant	NM_001386393.1(PANK2):c.744A>C (p.Ser248=)	Pigmentary pallidal degeneration [RCV002519282]\|not provided [RCV000376324]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	3910669	3910669	Human	1	name
11640794	CV272615	single nucleotide variant	NM_001386393.1(PANK2):c.780A>G (p.Glu260=)	Pigmentary pallidal degeneration [RCV001405934]\|not provided [RCV000345334]	likely benign\|uncertain significance	20	3910705	3910705	Human	1	name
402465177	CV2861806	single nucleotide variant	NM_001386393.1(PANK2):c.696G>A (p.Leu232=)	Pigmentary pallidal degeneration [RCV003502940]	likely benign	20	3910621	3910621	Human	1	name
402468425	CV2872031	single nucleotide variant	NM_001386393.1(PANK2):c.348A>T (p.Val116=)	Pigmentary pallidal degeneration [RCV003503820]	likely benign	20	3907975	3907975	Human	1	name
402468777	CV2872720	single nucleotide variant	NM_001386393.1(PANK2):c.465C>T (p.Asp155=)	Pigmentary pallidal degeneration [RCV003503861]	likely benign	20	3908092	3908092	Human	1	name
402468036	CV2878467	single nucleotide variant	NM_001386393.1(PANK2):c.774T>C (p.Asp258=)	Pigmentary pallidal degeneration [RCV003503738]	likely benign	20	3910699	3910699	Human	1	name
402469451	CV2880905	single nucleotide variant	NM_001386393.1(PANK2):c.675A>G (p.Lys225=)	Pigmentary pallidal degeneration [RCV003504099]	likely benign	20	3910600	3910600	Human	1	name
402469750	CV2881802	single nucleotide variant	NM_001386393.1(PANK2):c.714C>T (p.Tyr238=)	Pigmentary pallidal degeneration [RCV003504180]	likely benign	20	3910639	3910639	Human	1	name
402470470	CV2883582	single nucleotide variant	NM_001386393.1(PANK2):c.444T>C (p.Tyr148=)	Pigmentary pallidal degeneration [RCV003504401]	likely benign	20	3908071	3908071	Human	1	name
402470474	CV2883583	single nucleotide variant	NM_001386393.1(PANK2):c.450T>C (p.Ser150=)	Pigmentary pallidal degeneration [RCV003504402]	likely benign	20	3908077	3908077	Human	1	name
402470621	CV2886796	single nucleotide variant	NM_001386393.1(PANK2):c.813T>C (p.Asn271=)	Pigmentary pallidal degeneration [RCV003504379]	likely benign	20	3910738	3910738	Human	1	name
405130985	CV2895819	single nucleotide variant	NM_001386393.1(PANK2):c.52C>G (p.Arg18Gly)	Pigmentary pallidal degeneration [RCV003502134]	likely benign	20	3889482	3889482	Human	1	name
405133119	CV2897625	single nucleotide variant	NM_001386393.1(PANK2):c.747G>A (p.Gln249=)	Pigmentary pallidal degeneration [RCV003502358]	likely benign	20	3910672	3910672	Human	1	name
405131749	CV2906593	single nucleotide variant	NM_001386393.1(PANK2):c.327T>G (p.Gly109=)	Pigmentary pallidal degeneration [RCV003502212]	likely benign	20	3907954	3907954	Human	1	name
402466431	CV2910896	single nucleotide variant	NM_001386393.1(PANK2):c.336G>T (p.Leu112=)	Pigmentary pallidal degeneration [RCV003503196]	likely benign	20	3907963	3907963	Human	1	name
405132992	CV2911896	single nucleotide variant	NM_001386393.1(PANK2):c.819T>C (p.Tyr273=)	Pigmentary pallidal degeneration [RCV003502345]	likely benign	20	3910744	3910744	Human	1	name
405134068	CV2919031	single nucleotide variant	NM_001386393.1(PANK2):c.876A>G (p.Lys292=)	Pigmentary pallidal degeneration [RCV003502457]	likely benign	20	3910801	3910801	Human	1	name
402466609	CV2922251	single nucleotide variant	NM_001386393.1(PANK2):c.891G>T (p.Arg297=)	Pigmentary pallidal degeneration [RCV003503321]	likely benign	20	3910816	3910816	Human	1	name
402468876	CV2929901	single nucleotide variant	NM_001386393.1(PANK2):c.381A>G (p.Glu127=)	Pigmentary pallidal degeneration [RCV003503966]	likely benign	20	3908008	3908008	Human	1	name
402469339	CV2930271	single nucleotide variant	NM_001386393.1(PANK2):c.609C>A (p.Ala203=)	Pigmentary pallidal degeneration [RCV003504069]	likely benign	20	3908236	3908236	Human	1	name
405065761	CV2938470	deletion	NM_001386393.1(PANK2):c.225del (p.Arg76fs)	Pigmentary pallidal degeneration [RCV003611789]	pathogenic	20	3889655	3889655	Human	1	name
405065878	CV2945347	single nucleotide variant	NM_001386393.1(PANK2):c.858C>T (p.Ile286=)	Pigmentary pallidal degeneration [RCV003611798]	likely benign	20	3910783	3910783	Human	1	name
405066245	CV2946039	single nucleotide variant	NM_001386393.1(PANK2):c.951C>T (p.Gly317=)	Pigmentary pallidal degeneration [RCV003611824]	likely benign	20	3912503	3912503	Human	1	name
405076119	CV2967191	single nucleotide variant	NM_001386393.1(PANK2):c.597T>G (p.Thr199=)	Pigmentary pallidal degeneration [RCV003612533]	likely benign	20	3908224	3908224	Human	1	name
405077742	CV2972156	single nucleotide variant	NM_001386393.1(PANK2):c.369C>T (p.Ile123=)	Pigmentary pallidal degeneration [RCV003612632]	likely benign	20	3907996	3907996	Human	1	name
405079877	CV2978360	single nucleotide variant	NM_001386393.1(PANK2):c.873C>A (p.Ser291=)	Pigmentary pallidal degeneration [RCV003612821]	likely benign	20	3910798	3910798	Human	1	name
405081104	CV2980331	single nucleotide variant	NM_001386393.1(PANK2):c.339C>T (p.Val113=)	Pigmentary pallidal degeneration [RCV003612927]	likely benign	20	3907966	3907966	Human	1	name
405081404	CV2990895	single nucleotide variant	NM_001386393.1(PANK2):c.441T>G (p.Ala147=)	Pigmentary pallidal degeneration [RCV003612954]	likely benign	20	3908068	3908068	Human	1	name
405083095	CV3002570	single nucleotide variant	NM_001386393.1(PANK2):c.723A>G (p.Ser241=)	Pigmentary pallidal degeneration [RCV003613105]	likely benign	20	3910648	3910648	Human	1	name
405085548	CV3005482	single nucleotide variant	NM_001386393.1(PANK2):c.336G>A (p.Leu112=)	Pigmentary pallidal degeneration [RCV003613295]	likely benign	20	3907963	3907963	Human	1	name
405085851	CV3005828	single nucleotide variant	NM_001386393.1(PANK2):c.345G>A (p.Leu115=)	Pigmentary pallidal degeneration [RCV003613319]	likely benign	20	3907972	3907972	Human	1	name
405086409	CV3010072	deletion	NM_001386393.1(PANK2):c.262del (p.Arg88fs)	Pigmentary pallidal degeneration [RCV003613368]	pathogenic	20	3889690	3889690	Human	1	name
405086369	CV3016558	single nucleotide variant	NM_001386393.1(PANK2):c.759T>C (p.Phe253=)	Pigmentary pallidal degeneration [RCV003613364]	likely benign	20	3910684	3910684	Human	1	name
405059337	CV3030535	single nucleotide variant	NM_001386393.1(PANK2):c.387G>A (p.Glu129=)	Pigmentary pallidal degeneration [RCV003611104]	likely benign	20	3908014	3908014	Human	1	name
405059101	CV3038053	single nucleotide variant	NM_001386393.1(PANK2):c.493C>T (p.Leu165=)	Pigmentary pallidal degeneration [RCV003611194]	likely benign	20	3908120	3908120	Human	1	name
405071188	CV3067985	single nucleotide variant	NM_001386393.1(PANK2):c.348A>G (p.Val116=)	Pigmentary pallidal degeneration [RCV003612101]	likely benign	20	3907975	3907975	Human	1	name
405070398	CV3068756	single nucleotide variant	NM_001386393.1(PANK2):c.47G>T (p.Gly16Val)	Pigmentary pallidal degeneration [RCV003612140]	likely benign	20	3889477	3889477	Human	1	name
405073207	CV3075816	single nucleotide variant	NM_001386393.1(PANK2):c.750C>T (p.Cys250=)	Pigmentary pallidal degeneration [RCV003612311]	likely benign	20	3910675	3910675	Human	1	name
405073009	CV3078838	single nucleotide variant	NM_001386393.1(PANK2):c.987T>C (p.Ser329=)	Pigmentary pallidal degeneration [RCV003612297]	likely benign	20	3912539	3912539	Human	1	name
404976906	CV3123658	single nucleotide variant	NM_001386393.1(PANK2):c.849G>A (p.Gly283=)	Pigmentary pallidal degeneration [RCV003825084]	likely benign	20	3910774	3910774	Human	1	name
405185203	CV3124252	single nucleotide variant	NM_001386393.1(PANK2):c.687A>G (p.Leu229=)	Pigmentary pallidal degeneration [RCV003820451]	likely benign	20	3910612	3910612	Human	1	name
405122804	CV3126208	single nucleotide variant	NM_001386393.1(PANK2):c.477G>A (p.Glu159=)	Pigmentary pallidal degeneration [RCV003814960]	likely benign	20	3908104	3908104	Human	1	name
405061052	CV3129546	single nucleotide variant	NM_001386393.1(PANK2):c.738A>G (p.Gly246=)	Pigmentary pallidal degeneration [RCV003832815]	likely benign	20	3910663	3910663	Human	1	name
405106085	CV3139900	single nucleotide variant	NM_001386393.1(PANK2):c.873C>G (p.Ser291=)	Pigmentary pallidal degeneration [RCV003835311]	likely benign	20	3910798	3910798	Human	1	name
405252415	CV3177959	single nucleotide variant	NM_001386393.1(PANK2):c.951C>G (p.Gly317=)	Pigmentary pallidal degeneration [RCV003870739]	likely benign	20	3912503	3912503	Human	1	name
11617026	CV335388	single nucleotide variant	NM_001386393.1(PANK2):c.624G>A (p.Ala208=)	PANK2-related disorder [RCV003910314]\|Pigmentary pallidal degeneration [RCV000300446]\|not provided [RCV002510879]	benign\|likely benign\|uncertain significance	20	3908251	3908251	Human	2	name , trait , alternate_id
405758705	CV3364044	single nucleotide variant	NM_001386393.1(PANK2):c.46G>A (p.Gly16Arg)	Inborn genetic diseases [RCV004500245]	uncertain significance	20	3889476	3889476	Human	1	name
407479425	CV3466414	single nucleotide variant	NM_001386393.1(PANK2):c.42G>A (p.Met14Ile)	Inborn genetic diseases [RCV004664130]	uncertain significance	20	3889472	3889472	Human	1	name
597702840	CV3571174	single nucleotide variant	NM_001386393.1(PANK2):c.64C>G (p.Pro22Ala)	Inborn genetic diseases [RCV004956876]	uncertain significance	20	3889494	3889494	Human	1	name
597888170	CV3739225	single nucleotide variant	NM_001386393.1(PANK2):c.843C>T (p.Gly281=)	Pigmentary pallidal degeneration [RCV005070772]	likely benign	20	3910768	3910768	Human	1	name
597840495	CV3767773	single nucleotide variant	NM_001386393.1(PANK2):c.478C>T (p.Leu160=)	Pigmentary pallidal degeneration [RCV005114574]	likely benign	20	3908105	3908105	Human	1	name
597912765	CV3836706	single nucleotide variant	NM_001386393.1(PANK2):c.609C>T (p.Ala203=)	Pigmentary pallidal degeneration [RCV005187726]	likely benign	20	3908236	3908236	Human	1	name
597921961	CV3857763	single nucleotide variant	NM_001386393.1(PANK2):c.618T>C (p.Gly206=)	Pigmentary pallidal degeneration [RCV005196710]	likely benign	20	3908245	3908245	Human	1	name
598236759	CV3893462	single nucleotide variant	NM_001386393.1(PANK2):c.97T>G (p.Ser33Ala)	not provided [RCV005256195]	uncertain significance	20	3889527	3889527	Human		name
13478027	CV442290	single nucleotide variant	NM_001386393.1(PANK2):c.960T>C (p.Thr320=)	Pigmentary pallidal degeneration [RCV001520010]\|not provided [RCV003884590]\|not specified [RCV000516536]	benign\|likely benign	20	3912512	3912512	Human	1	name
13613475	CV534079	single nucleotide variant	NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln)	Pigmentary pallidal degeneration [RCV000631205]\|not specified [RCV002282271]	likely benign\|conflicting interpretations of pathogenicity	20	3889483	3889483	Human	1	name
13613473	CV534087	single nucleotide variant	NM_001386393.1(PANK2):c.384A>G (p.Glu128=)	Pigmentary pallidal degeneration [RCV000631204]\|not provided [RCV001289111]	likely benign	20	3908011	3908011	Human	1	name
13786845	CV549802	single nucleotide variant	NM_001386393.1(PANK2):c.489G>A (p.Leu163=)	PANK2-related disorder [RCV004756007]\|Pigmentary pallidal degeneration [RCV001079817]\|not provided [RCV000675591]	benign\|likely benign	20	3908116	3908116	Human	2	name , trait , alternate_id
15202762	CV773101	single nucleotide variant	NM_001386393.1(PANK2):c.694T>C (p.Leu232=)	Pigmentary pallidal degeneration [RCV001138964]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	3910619	3910619	Human	1	name
26900265	CV848385	deletion	NM_001386393.1(PANK2):c.243del (p.Ser81fs)	Pigmentary pallidal degeneration [RCV001049500]\|not provided [RCV001268830]	pathogenic	20	3889673	3889673	Human	1	name
28890231	CV886081	single nucleotide variant	NM_001386393.1(PANK2):c.717T>C (p.Ile239=)	Pigmentary pallidal degeneration [RCV001138965]	conflicting interpretations of pathogenicity\|uncertain significance	20	3910642	3910642	Human	1	name
126734935	CV1001161	single nucleotide variant	NM_001386393.1(PANK2):c.1281T>C (p.Ala427=)	not provided [RCV001310449]	likely benign	20	3918745	3918745	Human		name
126735366	CV1014129	single nucleotide variant	NM_001386393.1(PANK2):c.1323G>A (p.Ser441=)	Pigmentary pallidal degeneration [RCV001315039]	likely benign\|uncertain significance	20	3918787	3918787	Human	1	name
126734515	CV1021988	single nucleotide variant	NM_001386393.1(PANK2):c.238T>A (p.Tyr80Asn)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV001334624]	uncertain significance	20	3889668	3889668	Human	1	name
126750366	CV1034694	single nucleotide variant	NM_001386393.1(PANK2):c.203C>T (p.Ser68Leu)	Pigmentary pallidal degeneration [RCV001338030]\|not specified [RCV003331121]	uncertain significance	20	3889633	3889633	Human	1	name
127303301	CV1149445	single nucleotide variant	NM_001386393.1(PANK2):c.1002C>G (p.Thr334=)	Pigmentary pallidal degeneration [RCV001499365]	likely benign	20	3912554	3912554	Human	1	name
127317652	CV1149446	single nucleotide variant	NM_001386393.1(PANK2):c.1038G>A (p.Gly346=)	Pigmentary pallidal degeneration [RCV001503448]	likely benign	20	3912590	3912590	Human	1	name
150478761	CV1240555	insertion	NM_001386393.1(PANK2):c.652-273_652-272insG	not provided [RCV001652430]	benign	20	3910304	3910305	Human		name
151717122	CV1346314	duplication	NM_001386393.1(PANK2):c.317dup (p.Asp107fs)	Pigmentary pallidal degeneration [RCV001965392]	pathogenic	20	3907943	3907944	Human	1	name
151776979	CV1411568	single nucleotide variant	NM_001386393.1(PANK2):c.182C>T (p.Ser61Leu)	Pigmentary pallidal degeneration [RCV001930068]	uncertain significance	20	3889612	3889612	Human	1	name
151819880	CV1416065	single nucleotide variant	NM_001386393.1(PANK2):c.118C>A (p.Gln40Lys)	Pigmentary pallidal degeneration [RCV001919460]	uncertain significance	20	3889548	3889548	Human	1	name
151749243	CV1430304	single nucleotide variant	NM_001386393.1(PANK2):c.100G>T (p.Val34Phe)	Pigmentary pallidal degeneration [RCV002006688]	uncertain significance	20	3889530	3889530	Human	1	name
151886519	CV1435758	single nucleotide variant	NM_001386393.1(PANK2):c.133C>T (p.Pro45Ser)	Pigmentary pallidal degeneration [RCV001962777]	uncertain significance	20	3889563	3889563	Human	1	name
151756995	CV1438627	single nucleotide variant	NM_001386393.1(PANK2):c.1167C>T (p.Asn389=)	Pigmentary pallidal degeneration [RCV002007431]	likely benign	20	3917011	3917011	Human	1	name
151814932	CV1444573	single nucleotide variant	NM_001386393.1(PANK2):c.233G>T (p.Gly78Val)	Inborn genetic diseases [RCV003355663]\|Pigmentary pallidal degeneration [RCV001933574]	uncertain significance	20	3889663	3889663	Human	2	name
151870770	CV1477063	single nucleotide variant	NM_001386393.1(PANK2):c.115G>A (p.Glu39Lys)	Pigmentary pallidal degeneration [RCV001925178]	uncertain significance	20	3889545	3889545	Human	1	name
151786645	CV1513640	single nucleotide variant	NM_001386393.1(PANK2):c.275A>G (p.Glu92Gly)	Pigmentary pallidal degeneration [RCV001916391]	uncertain significance	20	3889705	3889705	Human	1	name
155951640	CV1921994	single nucleotide variant	NM_001386393.1(PANK2):c.1071T>C (p.Ala357=)	Pigmentary pallidal degeneration [RCV002616255]	likely benign	20	3912623	3912623	Human	1	name
156171239	CV1930193	single nucleotide variant	NM_001386393.1(PANK2):c.119A>G (p.Gln40Arg)	Inborn genetic diseases [RCV002624715]\|Pigmentary pallidal degeneration [RCV002651265]	uncertain significance	20	3889549	3889549	Human	2	name
8558140	CV19588	single nucleotide variant	NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)	Pigmentary pallidal degeneration [RCV000004809]	pathogenic	20	3889670	3889670	Human	1	name
8558152	CV19600	single nucleotide variant	NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter)	Pigmentary pallidal degeneration [RCV000004823]	pathogenic	20	3889633	3889633	Human	1	name
156256341	CV1981895	single nucleotide variant	NM_001386393.1(PANK2):c.1275A>G (p.Ala425=)	Pigmentary pallidal degeneration [RCV002646064]	likely benign	20	3918739	3918739	Human	1	name
155912359	CV2021738	single nucleotide variant	NM_001386393.1(PANK2):c.236C>T (p.Ser79Phe)	Pigmentary pallidal degeneration [RCV002726898]	uncertain significance	20	3889666	3889666	Human	1	name
156108652	CV2038653	single nucleotide variant	NM_001386393.1(PANK2):c.1368G>A (p.Leu456=)	Pigmentary pallidal degeneration [RCV002761602]	likely benign	20	3923279	3923279	Human	1	name
156260723	CV2099075	single nucleotide variant	NM_001386393.1(PANK2):c.1380G>A (p.Pro460=)	Pigmentary pallidal degeneration [RCV002895568]	likely benign	20	3923291	3923291	Human	1	name
156040095	CV2146729	single nucleotide variant	NM_001386393.1(PANK2):c.116A>G (p.Glu39Gly)	Pigmentary pallidal degeneration [RCV003019024]	uncertain significance	20	3889546	3889546	Human	1	name
156063303	CV2240140	single nucleotide variant	NM_001386393.1(PANK2):c.167G>C (p.Arg56Pro)	Inborn genetic diseases [RCV002782737]	uncertain significance	20	3889597	3889597	Human	1	name
401938013	CV2797397	single nucleotide variant	NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)	PANK2-related disorder [RCV003417114]\|Pigmentary pallidal degeneration [RCV003502731]	pathogenic	20	3889534	3889534	Human	2	name , trait , alternate_id
401930356	CV2827087	single nucleotide variant	NM_001386393.1(PANK2):c.1254G>C (p.Thr418=)	not provided [RCV003440338]	likely benign	20	3918718	3918718	Human		name
402475546	CV2852376	insertion	NM_153638.4(PANK2):c.68_69insTG (p.His24fs)	Pigmentary pallidal degeneration [RCV003486497]	pathogenic	20	3889168	3889169	Human	1	name
402467628	CV2856855	single nucleotide variant	NM_001386393.1(PANK2):c.1122C>G (p.Val374=)	Pigmentary pallidal degeneration [RCV003503600]	likely benign	20	3916966	3916966	Human	1	name
402468284	CV2868276	single nucleotide variant	NM_001386393.1(PANK2):c.1035A>T (p.Gly345=)	Pigmentary pallidal degeneration [RCV003503781]	likely benign	20	3912587	3912587	Human	1	name
402469744	CV2881596	single nucleotide variant	NM_001386393.1(PANK2):c.1380G>T (p.Pro460=)	Pigmentary pallidal degeneration [RCV003504178]	likely benign	20	3923291	3923291	Human	1	name
402469410	CV2884108	single nucleotide variant	NM_001386393.1(PANK2):c.118C>T (p.Gln40Ter)	Pigmentary pallidal degeneration [RCV003504088]	pathogenic	20	3889548	3889548	Human	1	name
402469999	CV2889128	single nucleotide variant	NM_001386393.1(PANK2):c.1257C>T (p.Ile419=)	Pigmentary pallidal degeneration [RCV003504274]	likely benign	20	3918721	3918721	Human	1	name
405131544	CV2900231	single nucleotide variant	NM_001386393.1(PANK2):c.1329C>T (p.His443=)	Pigmentary pallidal degeneration [RCV003502191]	likely benign	20	3918793	3918793	Human	1	name
402466871	CV2926631	single nucleotide variant	NM_001386393.1(PANK2):c.1057C>T (p.Leu353=)	Pigmentary pallidal degeneration [RCV003503394]	likely benign	20	3912609	3912609	Human	1	name
402469322	CV2933906	single nucleotide variant	NM_001386393.1(PANK2):c.1119T>C (p.Ala373=)	Pigmentary pallidal degeneration [RCV003504064]	likely benign	20	3916963	3916963	Human	1	name
405067554	CV2961449	single nucleotide variant	NM_001386393.1(PANK2):c.1278T>C (p.Tyr426=)	Pigmentary pallidal degeneration [RCV003611921]	likely benign	20	3918742	3918742	Human	1	name
405068154	CV2962092	single nucleotide variant	NM_001386393.1(PANK2):c.1008G>A (p.Val336=)	Pigmentary pallidal degeneration [RCV003611962]	likely benign	20	3912560	3912560	Human	1	name
405079776	CV2985435	single nucleotide variant	NM_001386393.1(PANK2):c.1140C>G (p.Ala380=)	Pigmentary pallidal degeneration [RCV003612813]	likely benign	20	3916984	3916984	Human	1	name
405085481	CV3005276	single nucleotide variant	NM_001386393.1(PANK2):c.1041C>T (p.Asp347=)	Pigmentary pallidal degeneration [RCV003613290]	likely benign	20	3912593	3912593	Human	1	name
405087527	CV3021389	single nucleotide variant	NM_001386393.1(PANK2):c.1170C>T (p.Asn390=)	Pigmentary pallidal degeneration [RCV003613459]	likely benign	20	3917014	3917014	Human	1	name
405060378	CV3039503	duplication	NM_001386393.1(PANK2):c.604dup (p.Cys202fs)	Pigmentary pallidal degeneration [RCV003611272]	pathogenic	20	3908227	3908228	Human	1	name
405062752	CV3048584	single nucleotide variant	NM_001386393.1(PANK2):c.1080A>C (p.Ser360=)	Pigmentary pallidal degeneration [RCV003611476]	likely benign	20	3912632	3912632	Human	1	name
405072812	CV3070522	single nucleotide variant	NM_001386393.1(PANK2):c.1026T>C (p.Asp342=)	Pigmentary pallidal degeneration [RCV003612284]	likely benign	20	3912578	3912578	Human	1	name
405081766	CV3077631	single nucleotide variant	NM_001386393.1(PANK2):c.1314A>G (p.Ala438=)	Pigmentary pallidal degeneration [RCV003612986]	likely benign	20	3918778	3918778	Human	1	name
405074307	CV3079703	single nucleotide variant	NM_001386393.1(PANK2):c.1254G>A (p.Thr418=)	Pigmentary pallidal degeneration [RCV003612387]	likely benign	20	3918718	3918718	Human	1	name
405758717	CV3364046	single nucleotide variant	NM_001386393.1(PANK2):c.143G>C (p.Arg48Pro)	Inborn genetic diseases [RCV004500247]	uncertain significance	20	3889573	3889573	Human	1	name
405758723	CV3364047	single nucleotide variant	NM_001386393.1(PANK2):c.253T>C (p.Ser85Pro)	Inborn genetic diseases [RCV004500248]	uncertain significance	20	3889683	3889683	Human	1	name
405758730	CV3364048	single nucleotide variant	NM_001386393.1(PANK2):c.290A>C (p.Lys97Thr)	Inborn genetic diseases [RCV004500249]	uncertain significance	20	3889720	3889720	Human	1	name
407517950	CV3466415	single nucleotide variant	NM_001386393.1(PANK2):c.284G>A (p.Arg95Lys)	Inborn genetic diseases [RCV004650835]	uncertain significance	20	3889714	3889714	Human	1	name
597651872	CV3720738	deletion	NM_001386393.1(PANK2):c.494del (p.Leu165fs)	Pigmentary pallidal degeneration [RCV005026933]	likely pathogenic	20	3908121	3908121	Human	1	name
597876153	CV3805007	single nucleotide variant	NM_001386393.1(PANK2):c.1074G>A (p.Val358=)	Pigmentary pallidal degeneration [RCV005151269]	likely benign	20	3912626	3912626	Human	1	name
598123104	CV3890201	single nucleotide variant	NM_001386393.1(PANK2):c.266A>G (p.Gln89Arg)	not provided [RCV005250720]	uncertain significance	20	3889696	3889696	Human		name
13796283	CV551592	deletion	NM_001386393.1(PANK2):c.987del (p.Arg330fs)	Cone-rod dystrophy [RCV000678590]\|Pigmentary pallidal degeneration [RCV001861860]	pathogenic	20	3912539	3912539	Human	4	name
13811961	CV571214	deletion	NM_001386393.1(PANK2):c.579del (p.Phe194fs)	Pigmentary pallidal degeneration [RCV000703387]	pathogenic	20	3908206	3908206	Human	1	name
13820163	CV571232	deletion	NM_001386393.1(PANK2):c.927del (p.Phe309fs)	Pigmentary pallidal degeneration [RCV000694769]	pathogenic	20	3912473	3912473	Human	1	name
13813669	CV572887	single nucleotide variant	NM_001386393.1(PANK2):c.142C>G (p.Arg48Gly)	Pigmentary pallidal degeneration [RCV000690316]	uncertain significance	20	3889572	3889572	Human	1	name
13803461	CV575097	deletion	NM_001386393.1(PANK2):c.767del (p.Pro256fs)	Pigmentary pallidal degeneration [RCV000684919]	pathogenic	20	3910690	3910690	Human	1	name
14718263	CV648663	single nucleotide variant	NM_001386393.1(PANK2):c.215C>A (p.Thr72Lys)	Inborn genetic diseases [RCV004028706]\|Pigmentary pallidal degeneration [RCV000810780]	uncertain significance	20	3889645	3889645	Human	2	name
14714893	CV648664	single nucleotide variant	NM_001386393.1(PANK2):c.233G>C (p.Gly78Ala)	Pigmentary pallidal degeneration [RCV000798597]	uncertain significance	20	3889663	3889663	Human	1	name
28890235	CV886082	single nucleotide variant	NM_001386393.1(PANK2):c.1065C>G (p.Gly355=)	Pigmentary pallidal degeneration [RCV001138966]\|not provided [RCV005241428]	conflicting interpretations of pathogenicity\|uncertain significance	20	3912617	3912617	Human	1	name
38476644	CV929181	duplication	NM_001386393.1(PANK2):c.832dup (p.Val278fs)	Pigmentary pallidal degeneration [RCV001215748]	pathogenic	20	3910755	3910756	Human	1	name
38480681	CV938974	single nucleotide variant	NM_001386393.1(PANK2):c.115G>T (p.Glu39Ter)	Pigmentary pallidal degeneration [RCV001206525]	pathogenic	20	3889545	3889545	Human	1	name
126726158	CV1018694	single nucleotide variant	NM_001386393.1(PANK2):c.767C>T (p.Pro256Leu)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV001331811]	uncertain significance	20	3910692	3910692	Human	1	name
126909248	CV1051711	single nucleotide variant	NM_001386393.1(PANK2):c.506A>G (p.Lys169Arg)	Inborn genetic diseases [RCV004656572]\|Pigmentary pallidal degeneration [RCV001368328]\|not provided [RCV003227032]	uncertain significance	20	3908133	3908133	Human	2	name
126913696	CV1051712	single nucleotide variant	NM_001386393.1(PANK2):c.706A>G (p.Ile236Val)	Pigmentary pallidal degeneration [RCV001359273]\|not provided [RCV003320830]	uncertain significance	20	3910631	3910631	Human	1	name
127255850	CV1056611	single nucleotide variant	NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser)	Pigmentary pallidal degeneration [RCV001379451]	pathogenic\|likely pathogenic	20	3907980	3907980	Human	1	name
127261090	CV1086994	single nucleotide variant	NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr)	Pigmentary pallidal degeneration [RCV001420153]	likely pathogenic	20	3910691	3910691	Human	1	name
150422480	CV1181854	single nucleotide variant	NM_001386393.1(PANK2):c.737G>A (p.Gly246Glu)	not provided [RCV001552698]	uncertain significance	20	3910662	3910662	Human		name
150409205	CV1192236	duplication	NM_001386393.1(PANK2):c.1207-301_1207-300dup	not provided [RCV001565590]	likely benign	20	3918362	3918363	Human		name
150453662	CV1203863	single nucleotide variant	NM_001386393.1(PANK2):c.938G>T (p.Cys313Phe)	Inborn genetic diseases [RCV002571157]\|Retinitis pigmentosa [RCV001591812]	uncertain significance	20	3912490	3912490	Human	3	name
150546348	CV1313698	single nucleotide variant	NM_001386393.1(PANK2):c.682G>T (p.Glu228Ter)	Pigmentary pallidal degeneration [RCV003992549]\|not provided [RCV001784796]	pathogenic	20	3910607	3910607	Human	1	name
151351451	CV1323460	single nucleotide variant	NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu)	Pigmentary pallidal degeneration [RCV001806316]	uncertain significance	20	3907949	3907949	Human	1	name
151353337	CV1326429	single nucleotide variant	NM_001386393.1(PANK2):c.584C>T (p.Ser195Leu)	not provided [RCV001816302]	likely pathogenic	20	3908211	3908211	Human		name
151866981	CV1342370	single nucleotide variant	NM_001386393.1(PANK2):c.882T>G (p.Asn294Lys)	Pigmentary pallidal degeneration [RCV001997854]\|not provided [RCV003319498]	uncertain significance	20	3910807	3910807	Human	1	name
151808251	CV1362731	single nucleotide variant	NM_001386393.1(PANK2):c.519C>A (p.His173Gln)	Pigmentary pallidal degeneration [RCV001991576]	uncertain significance	20	3908146	3908146	Human	1	name
151837824	CV1383350	single nucleotide variant	NM_001386393.1(PANK2):c.944T>C (p.Leu315Pro)	Pigmentary pallidal degeneration [RCV001935746]	pathogenic	20	3912496	3912496	Human	1	name
151860212	CV1389805	deletion	NM_001386393.1(PANK2):c.1086del (p.Phe362fs)	Pigmentary pallidal degeneration [RCV001905178]	pathogenic	20	3916928	3916928	Human	1	name
151715515	CV1434832	single nucleotide variant	NM_001386393.1(PANK2):c.845C>T (p.Ser282Leu)	Pigmentary pallidal degeneration [RCV001890260]	uncertain significance	20	3910770	3910770	Human	1	name
151847641	CV1439700	single nucleotide variant	NM_001386393.1(PANK2):c.701A>C (p.Lys234Thr)	Inborn genetic diseases [RCV002548124]\|Pigmentary pallidal degeneration [RCV002016145]	uncertain significance	20	3910626	3910626	Human	2	name
151712970	CV1441169	single nucleotide variant	NM_001386393.1(PANK2):c.358C>T (p.Pro120Ser)	Pigmentary pallidal degeneration [RCV001964656]	uncertain significance	20	3907985	3907985	Human	1	name
151826513	CV1442950	single nucleotide variant	NM_001386393.1(PANK2):c.887A>G (p.Lys296Arg)	Pigmentary pallidal degeneration [RCV002013887]	uncertain significance	20	3910812	3910812	Human	1	name
151740087	CV1455285	single nucleotide variant	NM_001386393.1(PANK2):c.629A>G (p.Lys210Arg)	Pigmentary pallidal degeneration [RCV002005730]	uncertain significance	20	3908256	3908256	Human	1	name
151741088	CV1455406	single nucleotide variant	NM_001386393.1(PANK2):c.815C>T (p.Pro272Leu)	Pigmentary pallidal degeneration [RCV002005825]	uncertain significance	20	3910740	3910740	Human	1	name
151775419	CV1463586	single nucleotide variant	NM_001386393.1(PANK2):c.868T>C (p.Tyr290His)	Pigmentary pallidal degeneration [RCV001896748]	uncertain significance	20	3910793	3910793	Human	1	name
151849835	CV1464801	single nucleotide variant	NM_001386393.1(PANK2):c.854G>A (p.Ser285Asn)	Pigmentary pallidal degeneration [RCV001995817]	uncertain significance	20	3910779	3910779	Human	1	name
151829882	CV1465960	single nucleotide variant	NM_001386393.1(PANK2):c.434A>G (p.Asn145Ser)	Inborn genetic diseases [RCV002543491]\|Pigmentary pallidal degeneration [RCV002050620]	uncertain significance	20	3908061	3908061	Human	2	name
151889352	CV1468633	single nucleotide variant	NM_001386393.1(PANK2):c.728G>A (p.Gly243Glu)	Pigmentary pallidal degeneration [RCV002001273]	uncertain significance	20	3910653	3910653	Human	1	name
151827999	CV1479892	single nucleotide variant	NM_001386393.1(PANK2):c.923T>G (p.Phe308Cys)	Pigmentary pallidal degeneration [RCV001901524]	uncertain significance	20	3912475	3912475	Human	1	name
151871832	CV1480565	single nucleotide variant	NM_001386393.1(PANK2):c.566G>A (p.Gly189Asp)	Pigmentary pallidal degeneration [RCV001906588]	uncertain significance	20	3908193	3908193	Human	1	name
151819331	CV1490365	single nucleotide variant	NM_001386393.1(PANK2):c.367A>G (p.Ile123Val)	Pigmentary pallidal degeneration [RCV001992611]	uncertain significance	20	3907994	3907994	Human	1	name
151855406	CV1501893	single nucleotide variant	NM_001386393.1(PANK2):c.655G>T (p.Gly219Cys)	Pigmentary pallidal degeneration [RCV002017114]	uncertain significance	20	3910580	3910580	Human	1	name
151745488	CV1502576	single nucleotide variant	NM_001386393.1(PANK2):c.865G>C (p.Val289Leu)	Pigmentary pallidal degeneration [RCV001912368]	uncertain significance	20	3910790	3910790	Human	1	name
151736145	CV1507091	single nucleotide variant	NM_001386393.1(PANK2):c.971C>A (p.Ala324Asp)	Pigmentary pallidal degeneration [RCV001984739]	uncertain significance	20	3912523	3912523	Human	1	name
151865209	CV1509741	single nucleotide variant	NM_001386393.1(PANK2):c.958A>G (p.Thr320Ala)	Inborn genetic diseases [RCV002552857]\|Pigmentary pallidal degeneration [RCV001924514]	uncertain significance	20	3912510	3912510	Human	2	name
151847237	CV1513226	single nucleotide variant	NM_001386393.1(PANK2):c.766C>G (p.Pro256Ala)	Pigmentary pallidal degeneration [RCV001922286]	uncertain significance	20	3910691	3910691	Human	1	name
151870391	CV1515608	single nucleotide variant	NM_001386393.1(PANK2):c.932T>G (p.Leu311Arg)	Pigmentary pallidal degeneration [RCV001981220]	uncertain significance	20	3912484	3912484	Human	1	name
153305318	CV1688434	single nucleotide variant	NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter)	Pigmentary pallidal degeneration [RCV002266168]	pathogenic	20	3910589	3910589	Human	1	name
153346814	CV1694217	single nucleotide variant	NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg)	Pigmentary pallidal degeneration [RCV002277633]	uncertain significance	20	3908052	3908052	Human	1	name
155736620	CV1774494	single nucleotide variant	NM_001386393.1(PANK2):c.317T>A (p.Leu106Gln)	Pigmentary pallidal degeneration [RCV002301950]	uncertain significance	20	3907944	3907944	Human	1	name
155800362	CV1861891	single nucleotide variant	NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr)	Pigmentary pallidal degeneration [RCV002468953]	likely pathogenic\|conflicting interpretations of pathogenicity	20	3910710	3910710	Human	1	name
156189729	CV1867301	single nucleotide variant	NM_001386393.1(PANK2):c.713A>T (p.Tyr238Phe)	Inborn genetic diseases [RCV004064275]\|Pigmentary pallidal degeneration [RCV002509004]\|not provided [RCV004790216]	uncertain significance\|not provided	20	3910638	3910638	Human	2	name
156381859	CV1868479	single nucleotide variant	NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter)	Pigmentary pallidal degeneration [RCV003050551]	pathogenic	20	3910810	3910810	Human	1	name
156407705	CV1868858	single nucleotide variant	NM_001386393.1(PANK2):c.695T>C (p.Leu232Ser)	Pigmentary pallidal degeneration [RCV003070979]	uncertain significance	20	3910620	3910620	Human	1	name
156409402	CV1874125	single nucleotide variant	NM_001386393.1(PANK2):c.731T>G (p.Phe244Cys)	Pigmentary pallidal degeneration [RCV003071658]	uncertain significance	20	3910656	3910656	Human	1	name
10448301	CV189162	single nucleotide variant	NM_001386393.1(PANK2):c.962T>C (p.Phe321Ser)	Retinitis pigmentosa [RCV000201489]	pathogenic	20	3912514	3912514	Human	2	name
8558141	CV19589	single nucleotide variant	NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp)	Pigmentary pallidal degeneration [RCV000004810]\|not provided [RCV002460885]	pathogenic\|likely pathogenic	20	3908087	3908087	Human	1	name
8558142	CV19590	single nucleotide variant	NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys)	Pigmentary pallidal degeneration [RCV000004811]	pathogenic\|likely pathogenic	20	3908153	3908153	Human	1	name
8558144	CV19592	single nucleotide variant	NM_001386393.1(PANK2):c.721T>C (p.Ser241Pro)	Pigmentary pallidal degeneration [RCV003985014]	pathogenic	20	3910646	3910646	Human	1	name
8558145	CV19593	single nucleotide variant	NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala)	Pigmentary pallidal degeneration [RCV001851655]\|not specified [RCV003234892]	pathogenic\|likely pathogenic\|uncertain significance	20	3907997	3907997	Human	1	name
8558146	CV19594	single nucleotide variant	NM_001386393.1(PANK2):c.502C>T (p.Arg168Cys)	Pigmentary pallidal degeneration [RCV003985015]\|not provided [RCV001753400]\|not specified [RCV005237353]	pathogenic\|uncertain significance	20	3908129	3908129	Human	1	name
8558149	CV19597	single nucleotide variant	NM_001386393.1(PANK2):c.980T>C (p.Met327Thr)	Pigmentary pallidal degeneration [RCV003984799]	pathogenic	20	3912532	3912532	Human	1	name
156039035	CV1998926	single nucleotide variant	NM_001386393.1(PANK2):c.652A>G (p.Ile218Val)	Pigmentary pallidal degeneration [RCV002658962]\|not provided [RCV004790234]	uncertain significance	20	3910577	3910577	Human	1	name
156099156	CV2007628	single nucleotide variant	NM_001386393.1(PANK2):c.394G>C (p.Val132Leu)	Pigmentary pallidal degeneration [RCV002695238]	uncertain significance	20	3908021	3908021	Human	1	name
156357770	CV2020204	single nucleotide variant	NM_001386393.1(PANK2):c.422A>G (p.Tyr141Cys)	Pigmentary pallidal degeneration [RCV002720653]	uncertain significance	20	3908049	3908049	Human	1	name
156377073	CV2024825	single nucleotide variant	NM_001386393.1(PANK2):c.503G>A (p.Arg168His)	Pigmentary pallidal degeneration [RCV002722010]	uncertain significance	20	3908130	3908130	Human	1	name
156016064	CV2046704	single nucleotide variant	NM_001386393.1(PANK2):c.838A>G (p.Ile280Val)	Pigmentary pallidal degeneration [RCV002756943]	uncertain significance	20	3910763	3910763	Human	1	name
156324317	CV2053983	single nucleotide variant	NM_001386393.1(PANK2):c.425T>A (p.Leu142Gln)	Pigmentary pallidal degeneration [RCV002810292]	uncertain significance	20	3908052	3908052	Human	1	name
155955651	CV2069940	single nucleotide variant	NM_001386393.1(PANK2):c.710T>C (p.Leu237Ser)	Pigmentary pallidal degeneration [RCV002816501]	uncertain significance	20	3910635	3910635	Human	1	name
156151250	CV2101381	single nucleotide variant	NM_001386393.1(PANK2):c.776C>G (p.Ser259Cys)	Pigmentary pallidal degeneration [RCV002890660]	uncertain significance	20	3910701	3910701	Human	1	name
156122838	CV2112182	single nucleotide variant	NM_001386393.1(PANK2):c.989G>A (p.Arg330His)	Inborn genetic diseases [RCV002927888]\|Pigmentary pallidal degeneration [RCV002927887]	uncertain significance	20	3912541	3912541	Human	2	name
156096575	CV2132072	single nucleotide variant	NM_001386393.1(PANK2):c.451A>G (p.Thr151Ala)	Pigmentary pallidal degeneration [RCV003002047]	uncertain significance	20	3908078	3908078	Human	1	name
156098687	CV2136080	single nucleotide variant	NM_001386393.1(PANK2):c.802G>T (p.Asp268Tyr)	Pigmentary pallidal degeneration [RCV002979895]	uncertain significance	20	3910727	3910727	Human	1	name
156078431	CV2141908	single nucleotide variant	NM_001386393.1(PANK2):c.946A>G (p.Thr316Ala)	Pigmentary pallidal degeneration [RCV002979174]	uncertain significance	20	3912498	3912498	Human	1	name
156254511	CV2209649	single nucleotide variant	NM_001386393.1(PANK2):c.539A>G (p.His180Arg)	Inborn genetic diseases [RCV002702649]	uncertain significance	20	3908166	3908166	Human	1	name
156026764	CV2242386	single nucleotide variant	NM_001386393.1(PANK2):c.955A>C (p.Thr319Pro)	Inborn genetic diseases [RCV002757768]	uncertain significance	20	3912507	3912507	Human	1	name
12907452	CV227411	single nucleotide variant	NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly)	Pigmentary pallidal degeneration [RCV000490498]\|not provided [RCV005420769]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	3910728	3910728	Human	1	name
243052657	CV2417967	single nucleotide variant	NM_001386393.1(PANK2):c.632T>G (p.Phe211Cys)	Pigmentary pallidal degeneration [RCV003153032]	uncertain significance	20	3908259	3908259	Human	1	name
329350269	CV2421623	single nucleotide variant	NM_001386393.1(PANK2):c.464A>T (p.Asp155Val)	not provided [RCV003159325]	uncertain significance	20	3908091	3908091	Human		name
329846468	CV2523719	single nucleotide variant	NM_001386393.1(PANK2):c.325G>A (p.Gly109Ser)	Pigmentary pallidal degeneration [RCV003226007]	likely pathogenic	20	3907952	3907952	Human	1	name
329848347	CV2667992	deletion	NM_001386393.1(PANK2):c.1189del (p.Met397fs)	Pigmentary pallidal degeneration [RCV003229534]	likely pathogenic	20	3917032	3917032	Human	1	name
329955128	CV2671069	single nucleotide variant	NM_001386393.1(PANK2):c.457A>T (p.Ile153Phe)	not specified [RCV003236340]	uncertain significance	20	3908084	3908084	Human		name
401734728	CV2709591	single nucleotide variant	NM_001386393.1(PANK2):c.593A>G (p.His198Arg)	Inborn genetic diseases [RCV003272699]	uncertain significance	20	3908220	3908220	Human	1	name
401796795	CV2739770	single nucleotide variant	NM_001386393.1(PANK2):c.665A>T (p.Gln222Leu)	not provided [RCV003319731]	uncertain significance	20	3910590	3910590	Human		name
401797262	CV2742094	single nucleotide variant	NM_001386393.1(PANK2):c.568A>G (p.Arg190Gly)	not specified [RCV003324272]	uncertain significance	20	3908195	3908195	Human		name
401895272	CV2786311	single nucleotide variant	NM_001386393.1(PANK2):c.400A>C (p.Ser134Arg)	Inborn genetic diseases [RCV003372340]	uncertain significance	20	3908027	3908027	Human	1	name
401920091	CV2795024	single nucleotide variant	NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)	Pigmentary pallidal degeneration [RCV003388770]	conflicting interpretations of pathogenicity\|uncertain significance	20	3910812	3910812	Human	1	name
401924751	CV2805103	single nucleotide variant	NM_001386393.1(PANK2):c.416G>C (p.Arg139Pro)	not specified [RCV003404922]	uncertain significance	20	3908043	3908043	Human		name
402468305	CV2868407	single nucleotide variant	NM_001386393.1(PANK2):c.431C>T (p.Ser144Phe)	Pigmentary pallidal degeneration [RCV003503787]	uncertain significance	20	3908058	3908058	Human	1	name
402470526	CV2893834	single nucleotide variant	NM_001386393.1(PANK2):c.308G>A (p.Trp103Ter)	Pigmentary pallidal degeneration [RCV003504416]	pathogenic	20	3907935	3907935	Human	1	name
405130109	CV2905508	single nucleotide variant	NM_001386393.1(PANK2):c.445G>A (p.Gly149Arg)	Pigmentary pallidal degeneration [RCV003502042]	likely pathogenic	20	3908072	3908072	Human	1	name
405130119	CV2905510	single nucleotide variant	NM_001386393.1(PANK2):c.635A>G (p.Glu212Gly)	Pigmentary pallidal degeneration [RCV003502043]	pathogenic\|likely pathogenic	20	3908262	3908262	Human	1	name
405130128	CV2905511	single nucleotide variant	NM_001386393.1(PANK2):c.636G>T (p.Glu212Asp)	Pigmentary pallidal degeneration [RCV003502044]	pathogenic\|likely pathogenic	20	3908263	3908263	Human	1	name
405080887	CV2989999	single nucleotide variant	NM_001386393.1(PANK2):c.526C>G (p.Arg176Gly)	Pigmentary pallidal degeneration [RCV003612903]	uncertain significance	20	3908153	3908153	Human	1	name
405072586	CV3072819	single nucleotide variant	NM_001386393.1(PANK2):c.393A>C (p.Glu131Asp)	Pigmentary pallidal degeneration [RCV003612267]	uncertain significance	20	3908020	3908020	Human	1	name
405080047	CV3166719	single nucleotide variant	NM_001386393.1(PANK2):c.817T>C (p.Tyr273His)	Pigmentary pallidal degeneration [RCV003851493]	likely pathogenic\|uncertain significance	20	3910742	3910742	Human	1	name
405758669	CV3364038	single nucleotide variant	NM_001386393.1(PANK2):c.823C>A (p.Leu275Met)	Inborn genetic diseases [RCV004500239]	uncertain significance	20	3910748	3910748	Human	1	name
405758674	CV3364039	single nucleotide variant	NM_001386393.1(PANK2):c.877G>A (p.Asp293Asn)	Inborn genetic diseases [RCV004500240]	uncertain significance	20	3910802	3910802	Human	1	name
405866571	CV3400983	duplication	NM_001386393.1(PANK2):c.1267dup (p.Leu423fs)	Pigmentary pallidal degeneration [RCV004577098]	likely pathogenic	20	3918730	3918731	Human	1	name
596944587	CV3408952	single nucleotide variant	NM_001386393.1(PANK2):c.535A>G (p.Thr179Ala)	Optic atrophy [RCV004817605]	uncertain significance	20	3908162	3908162	Human	2	name
11630652	CV350963	single nucleotide variant	NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)	Inborn genetic diseases [RCV002523160]\|Pigmentary pallidal degeneration [RCV000355680]	conflicting interpretations of pathogenicity\|uncertain significance	20	3912540	3912540	Human	2	name
597647228	CV3551572	single nucleotide variant	NM_001386393.1(PANK2):c.754T>A (p.Tyr252Asn)	Pigmentary pallidal degeneration [RCV004819949]	uncertain significance	20	3910679	3910679	Human	1	name
597702849	CV3571177	single nucleotide variant	NM_001386393.1(PANK2):c.949G>C (p.Gly317Arg)	Inborn genetic diseases [RCV004956879]	uncertain significance	20	3912501	3912501	Human	1	name
12741906	CV361063	single nucleotide variant	NM_001386393.1(PANK2):c.564G>A (p.Met188Ile)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV001196626]\|Neurodegeneration [RCV000415370]	pathogenic	20	3908191	3908191	Human	3	name
12739070	CV361064	single nucleotide variant	NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV001196627]\|Neurodegeneration [RCV000414787]\|Pigmentary pallidal degeneration [RCV003401407]	pathogenic	20	3910664	3910664	Human	4	name
597651901	CV3720742	duplication	NM_001386393.1(PANK2):c.1302dup (p.Gln435fs)	Pigmentary pallidal degeneration [RCV005026936]	likely pathogenic	20	3918762	3918763	Human	1	name
597921298	CV3860511	single nucleotide variant	NM_001386393.1(PANK2):c.673A>G (p.Lys225Glu)	Pigmentary pallidal degeneration [RCV005196039]	pathogenic	20	3910598	3910598	Human	1	name
598123428	CV3884862	single nucleotide variant	NM_001386393.1(PANK2):c.838A>T (p.Ile280Phe)	Pigmentary pallidal degeneration [RCV005238471]	pathogenic	20	3910763	3910763	Human	1	name
598124915	CV3885471	single nucleotide variant	NM_001386393.1(PANK2):c.862G>A (p.Ala288Thr)	not specified [RCV005240049]	uncertain significance	20	3910787	3910787	Human		name
598184957	CV4005774	single nucleotide variant	NM_001386393.1(PANK2):c.472C>T (p.Leu158Phe)	Inborn genetic diseases [RCV005395532]	uncertain significance	20	3908099	3908099	Human	1	name
616933321	CV4013504	single nucleotide variant	NM_001386393.1(PANK2):c.442T>C (p.Tyr148His)	Pigmentary pallidal degeneration [RCV005411066]	likely pathogenic	20	3908069	3908069	Human	1	name
616933605	CV4013515	single nucleotide variant	NM_001386393.1(PANK2):c.535A>T (p.Thr179Ser)	Pigmentary pallidal degeneration [RCV005411077]	likely pathogenic	20	3908162	3908162	Human	1	name
616933595	CV4013525	single nucleotide variant	NM_001386393.1(PANK2):c.736G>T (p.Gly246Ter)	Pigmentary pallidal degeneration [RCV005411087]	pathogenic	20	3910661	3910661	Human	1	name
12913569	CV422317	single nucleotide variant	NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu)	Pigmentary pallidal degeneration [RCV000631200]\|not provided [RCV000493982]	likely pathogenic\|uncertain significance	20	3907941	3907941	Human	1	name
13213897	CV431003	single nucleotide variant	NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter)	Pigmentary pallidal degeneration [RCV000500586]	pathogenic\|likely pathogenic	20	3908233	3908233	Human	1	name
13464817	CV471386	single nucleotide variant	NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys)	Pigmentary pallidal degeneration [RCV000544004]\|not provided [RCV002466529]	pathogenic	20	3907977	3907977	Human	1	name
13518630	CV486280	single nucleotide variant	NM_001386393.1(PANK2):c.466G>A (p.Val156Met)	Pigmentary pallidal degeneration [RCV001853955]\|not provided [RCV000584963]	uncertain significance	20	3908093	3908093	Human	1	name
13796285	CV551591	single nucleotide variant	NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr)	Leber congenital amaurosis [RCV000678589]\|Pigmentary pallidal degeneration [RCV001357487]\|not provided [RCV000733234]	uncertain significance	20	3912505	3912505	Human	2	name
13805674	CV571220	single nucleotide variant	NM_001386393.1(PANK2):c.734A>G (p.Asn245Ser)	Pigmentary pallidal degeneration [RCV000685837]	likely pathogenic\|uncertain significance	20	3910659	3910659	Human	1	name
13801324	CV571222	single nucleotide variant	NM_001386393.1(PANK2):c.752A>G (p.Tyr251Cys)	Pigmentary pallidal degeneration [RCV000697750]	uncertain significance	20	3910677	3910677	Human	1	name
13816790	CV571224	single nucleotide variant	NM_001386393.1(PANK2):c.765C>G (p.Asn255Lys)	Pigmentary pallidal degeneration [RCV000692561]\|not provided [RCV005004370]	uncertain significance	20	3910690	3910690	Human	1	name
13809223	CV571231	single nucleotide variant	NM_001386393.1(PANK2):c.769G>T (p.Ala257Ser)	Inborn genetic diseases [RCV002544785]\|Pigmentary pallidal degeneration [RCV000687658]	uncertain significance	20	3910694	3910694	Human	2	name
14717754	CV648665	single nucleotide variant	NM_001386393.1(PANK2):c.475G>A (p.Glu159Lys)	Pigmentary pallidal degeneration [RCV000808841]	uncertain significance	20	3908102	3908102	Human	1	name
14716225	CV648667	single nucleotide variant	NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile)	Pigmentary pallidal degeneration [RCV000803081]\|not provided [RCV001815438]	pathogenic\|likely pathogenic	20	3910806	3910806	Human	1	name
21073177	CV791981	single nucleotide variant	NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)	Pigmentary pallidal degeneration [RCV000990272]\|not provided [RCV003151260]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	20	3910665	3910665	Human	1	name
21068121	CV797983	single nucleotide variant	NM_001386393.1(PANK2):c.920C>G (p.Thr307Ser)	not provided [RCV000997739]	uncertain significance	20	3912472	3912472	Human		name
21075013	CV798764	single nucleotide variant	NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter)	Pigmentary pallidal degeneration [RCV000995829]	pathogenic	20	3910681	3910681	Human	1	name
25319996	CV806072	deletion	NM_001386393.1(PANK2):c.1184del (p.Ala395fs)	not provided [RCV001009106]	pathogenic	20	3917028	3917028	Human		name
38465292	CV938975	single nucleotide variant	NM_001386393.1(PANK2):c.383A>G (p.Glu128Gly)	Pigmentary pallidal degeneration [RCV001201697]	uncertain significance	20	3908010	3908010	Human	1	name
40889882	CV975551	single nucleotide variant	NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)	Pigmentary pallidal degeneration [RCV002537709]\|not provided [RCV001268386]	pathogenic\|likely pathogenic\|uncertain significance	20	3908088	3908088	Human	1	name
41407305	CV983456	single nucleotide variant	NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp)	Pigmentary pallidal degeneration [RCV001289540]	pathogenic\|conflicting interpretations of pathogenicity	20	3910808	3910808	Human	1	name
126734941	CV1001162	single nucleotide variant	NM_001386393.1(PANK2):c.1286A>G (p.Asp429Gly)	not provided [RCV001310450]	uncertain significance	20	3918750	3918750	Human		name
150534924	CV1311693	single nucleotide variant	NM_001386393.1(PANK2):c.1277A>G (p.Tyr426Cys)	Pigmentary pallidal degeneration [RCV003502606]\|not specified [RCV001779503]	pathogenic\|uncertain significance	20	3918741	3918741	Human	1	name
151661893	CV1330097	single nucleotide variant	NM_001386393.1(PANK2):c.1309A>G (p.Lys437Glu)	Pigmentary pallidal degeneration [RCV001823508]	uncertain significance	20	3918773	3918773	Human	1	name
151776854	CV1342648	single nucleotide variant	NM_001386393.1(PANK2):c.1318T>C (p.Phe440Leu)	Pigmentary pallidal degeneration [RCV001988767]	uncertain significance	20	3918782	3918782	Human	1	name
151785121	CV1344776	single nucleotide variant	NM_001386393.1(PANK2):c.1322C>T (p.Ser441Leu)	Pigmentary pallidal degeneration [RCV001989494]	uncertain significance	20	3918786	3918786	Human	1	name
151856532	CV1347701	single nucleotide variant	NM_001386393.1(PANK2):c.1216C>G (p.Gln406Glu)	Pigmentary pallidal degeneration [RCV001979593]	uncertain significance	20	3918680	3918680	Human	1	name
151751233	CV1357172	single nucleotide variant	NM_001386393.1(PANK2):c.1068G>T (p.Trp356Cys)	Pigmentary pallidal degeneration [RCV001894352]	uncertain significance	20	3912620	3912620	Human	1	name
151774430	CV1424148	single nucleotide variant	NM_001386393.1(PANK2):c.1265G>A (p.Arg422Gln)	Inborn genetic diseases [RCV004046089]\|Pigmentary pallidal degeneration [RCV002025673]	uncertain significance	20	3918729	3918729	Human	2	name
152985488	CV1675303	single nucleotide variant	NM_001386393.1(PANK2):c.1112G>A (p.Arg371Gln)	Pigmentary pallidal degeneration [RCV003388625]\|not specified [RCV002240129]	uncertain significance	20	3916956	3916956	Human	1	name
155803742	CV1858308	single nucleotide variant	NM_001386393.1(PANK2):c.1006G>A (p.Val336Met)	not provided [RCV002462617]	uncertain significance	20	3912558	3912558	Human		name
155796492	CV1861876	single nucleotide variant	NM_001386393.1(PANK2):c.1009G>A (p.Asp337Asn)	not specified [RCV002470158]	uncertain significance	20	3912561	3912561	Human		name
156347524	CV1868480	single nucleotide variant	NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr)	Pigmentary pallidal degeneration [RCV003064597]	pathogenic	20	3916938	3916938	Human	1	name
156203004	CV1925822	single nucleotide variant	NM_001386393.1(PANK2):c.1201A>G (p.Asn401Asp)	Pigmentary pallidal degeneration [RCV002643703]	uncertain significance	20	3917045	3917045	Human	1	name
155912073	CV1935291	single nucleotide variant	NM_001386393.1(PANK2):c.1188A>T (p.Arg396Ser)	Pigmentary pallidal degeneration [RCV002510620]	uncertain significance	20	3917032	3917032	Human	1	name
156332410	CV1954198	single nucleotide variant	NM_001386393.1(PANK2):c.1195G>A (p.Ala399Thr)	Pigmentary pallidal degeneration [RCV002580072]	uncertain significance	20	3917039	3917039	Human	1	name
8558139	CV19587	single nucleotide variant	NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV000132732]\|Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV002496261]\|Inborn genetic diseases [RCV000190815]\|Pigmentary pallidal degeneration [RCV000004807] ... (more) \|Retinitis pigmentosa [RCV001588799]\|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [RCV004766980]\|not provided [RCV000224470]	pathogenic\|likely pathogenic	20	3918695	3918695	Human	6	name
8558143	CV19591	single nucleotide variant	NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn)	Pigmentary pallidal degeneration [RCV000004812]	pathogenic\|likely pathogenic	20	3912634	3912634	Human	1	name
8558147	CV19595	single nucleotide variant	NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV000132733]\|Inborn genetic diseases [RCV002512773]\|PANK2-related disorder [RCV004755710]\|Pigmentary pallidal degeneration [RCV000004816]\|not provided [RCV001310448]	pathogenic\|likely pathogenic	20	3918717	3918717	Human	3	name , trait , alternate_id
8558148	CV19596	single nucleotide variant	NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter)	Dystonic disorder [RCV001003628]\|Pigmentary pallidal degeneration [RCV000821698]	pathogenic	20	3916955	3916955	Human	3	name
156248217	CV1988985	single nucleotide variant	NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter)	Pigmentary pallidal degeneration [RCV002627364]	uncertain significance	20	3923281	3923281	Human	1	name
156323306	CV2053894	single nucleotide variant	NM_001386393.1(PANK2):c.1100G>A (p.Ser367Asn)	Pigmentary pallidal degeneration [RCV002810224]	uncertain significance	20	3916944	3916944	Human	1	name
156203225	CV2063021	single nucleotide variant	NM_001386393.1(PANK2):c.1097T>A (p.Met366Lys)	Pigmentary pallidal degeneration [RCV002829018]	uncertain significance	20	3916941	3916941	Human	1	name
156274091	CV2067471	single nucleotide variant	NM_001386393.1(PANK2):c.1152G>C (p.Leu384Phe)	Pigmentary pallidal degeneration [RCV002856156]	uncertain significance	20	3916996	3916996	Human	1	name
156353467	CV2157847	single nucleotide variant	NM_001386393.1(PANK2):c.1143A>C (p.Arg381Ser)	Pigmentary pallidal degeneration [RCV003031052]	uncertain significance	20	3916987	3916987	Human	1	name
156078858	CV2173680	single nucleotide variant	NM_001386393.1(PANK2):c.1285G>T (p.Asp429Tyr)	Pigmentary pallidal degeneration [RCV003053958]	uncertain significance	20	3918749	3918749	Human	1	name
156401644	CV2191268	single nucleotide variant	NM_001386393.1(PANK2):c.1111C>G (p.Arg371Gly)	Pigmentary pallidal degeneration [RCV003052367]	uncertain significance	20	3916955	3916955	Human	1	name
155916004	CV2336067	single nucleotide variant	NM_001386393.1(PANK2):c.1121T>C (p.Val374Ala)	Inborn genetic diseases [RCV002968692]	uncertain significance	20	3916965	3916965	Human	1	name
243051766	CV2417736	single nucleotide variant	NM_001386393.1(PANK2):c.1258G>A (p.Ala420Thr)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV003152655]	pathogenic	20	3918722	3918722	Human	1	name
329364777	CV2443851	single nucleotide variant	NM_001386393.1(PANK2):c.1001C>A (p.Thr334Asn)	Inborn genetic diseases [RCV003206914]\|not provided [RCV004790504]	uncertain significance	20	3912553	3912553	Human	1	name
329399343	CV2446811	single nucleotide variant	NM_001386393.1(PANK2):c.1049G>A (p.Arg350Lys)	Inborn genetic diseases [RCV003196626]	uncertain significance	20	3912601	3912601	Human	1	name
329954700	CV2670629	single nucleotide variant	NM_001386393.1(PANK2):c.1376T>G (p.Ile459Ser)	not provided [RCV003235897]	uncertain significance	20	3923287	3923287	Human		name
329955127	CV2671068	single nucleotide variant	NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)	Pigmentary pallidal degeneration [RCV003236339]	pathogenic	20	3917016	3917016	Human	1	name
401829055	CV2743555	single nucleotide variant	NM_001386393.1(PANK2):c.1129G>A (p.Glu377Lys)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV003326731]	pathogenic	20	3916973	3916973	Human	1	name
401859922	CV2794430	single nucleotide variant	NM_001386393.1(PANK2):c.1352G>A (p.Gly451Glu)	not provided [RCV003387598]	uncertain significance	20	3923263	3923263	Human		name
401917422	CV2795301	single nucleotide variant	NM_001386393.1(PANK2):c.1009G>T (p.Asp337Tyr)	Pigmentary pallidal degeneration [RCV003389134]	likely pathogenic	20	3912561	3912561	Human	1	name
401914158	CV2830578	single nucleotide variant	NM_001386393.1(PANK2):c.1061C>G (p.Pro354Arg)	Pigmentary pallidal degeneration [RCV003502735]\|not provided [RCV003442316]	pathogenic\|likely pathogenic	20	3912613	3912613	Human	1	name
401940312	CV2839165	single nucleotide variant	NM_001386393.1(PANK2):c.1383A>G (p.Ter461Trp)	Pigmentary pallidal degeneration [RCV003448723]	uncertain significance	20	3923294	3923294	Human	1	name
401941745	CV2839494	single nucleotide variant	NM_001386393.1(PANK2):c.1196C>T (p.Ala399Val)	Pigmentary pallidal degeneration [RCV003455851]	likely pathogenic	20	3917040	3917040	Human	1	name
405130138	CV2905512	single nucleotide variant	NM_001386393.1(PANK2):c.1139C>T (p.Ala380Val)	Pigmentary pallidal degeneration [RCV003502045]	likely pathogenic	20	3916983	3916983	Human	1	name
405130146	CV2905513	single nucleotide variant	NM_001386393.1(PANK2):c.1145C>T (p.Ala382Val)	Pigmentary pallidal degeneration [RCV003502046]	pathogenic	20	3916989	3916989	Human	1	name
405130158	CV2905514	single nucleotide variant	NM_001386393.1(PANK2):c.1172T>C (p.Ile391Thr)	Pigmentary pallidal degeneration [RCV003502047]	pathogenic	20	3917016	3917016	Human	1	name
405130168	CV2905515	single nucleotide variant	NM_001386393.1(PANK2):c.1184C>A (p.Ala395Glu)	Pigmentary pallidal degeneration [RCV003502048]	likely pathogenic	20	3917028	3917028	Human	1	name
405130178	CV2905516	single nucleotide variant	NM_001386393.1(PANK2):c.1264C>T (p.Arg422Trp)	Pigmentary pallidal degeneration [RCV003502049]	likely pathogenic	20	3918728	3918728	Human	1	name
405130187	CV2905517	single nucleotide variant	NM_001386393.1(PANK2):c.1330G>A (p.Glu444Lys)	Pigmentary pallidal degeneration [RCV003502050]	likely pathogenic	20	3918794	3918794	Human	1	name
405066043	CV2938950	single nucleotide variant	NM_001386393.1(PANK2):c.1357C>T (p.Leu453Phe)	Pigmentary pallidal degeneration [RCV003611809]	likely pathogenic	20	3923268	3923268	Human	1	name
405082725	CV2995303	single nucleotide variant	NM_001386393.1(PANK2):c.1025A>C (p.Asp342Ala)	Pigmentary pallidal degeneration [RCV003613074]	likely pathogenic	20	3912577	3912577	Human	1	name
405058367	CV3024405	single nucleotide variant	NM_001386393.1(PANK2):c.1358T>A (p.Leu453His)	Pigmentary pallidal degeneration [RCV003611136]	pathogenic	20	3923269	3923269	Human	1	name
405214449	CV3164398	single nucleotide variant	NM_001386393.1(PANK2):c.1025A>T (p.Asp342Val)	Pigmentary pallidal degeneration [RCV003862633]	likely pathogenic	20	3912577	3912577	Human	1	name
405853369	CV3392699	single nucleotide variant	NM_001386393.1(PANK2):c.1253C>G (p.Thr418Arg)	Pigmentary pallidal degeneration [RCV005023561]\|not specified [RCV004526424]	likely pathogenic\|uncertain significance	20	3918717	3918717	Human	1	name
405854446	CV3393057	single nucleotide variant	NM_001386393.1(PANK2):c.1151T>G (p.Leu384Trp)	not specified [RCV004527214]	uncertain significance	20	3916995	3916995	Human		name
11659794	CV345213	single nucleotide variant	NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr)	Pigmentary pallidal degeneration [RCV000361496]	uncertain significance	20	3923265	3923265	Human	1	name
596920700	CV3534151	single nucleotide variant	NM_001386393.1(PANK2):c.1358T>C (p.Leu453Pro)	Pigmentary pallidal degeneration [RCV004783370]	likely pathogenic	20	3923269	3923269	Human	1	name
596941887	CV3543903	duplication	NM_001386393.1(PANK2):c.84_100dup (p.Val34fs)	Pigmentary pallidal degeneration [RCV004799893]	pathogenic	20	3889512	3889513	Human	1	name
597651891	CV3720741	single nucleotide variant	NM_001386393.1(PANK2):c.1169A>T (p.Asn390Ile)	Pigmentary pallidal degeneration [RCV005026935]	likely pathogenic	20	3917013	3917013	Human	1	name
616933823	CV4011789	single nucleotide variant	NM_001386393.1(PANK2):c.1136T>C (p.Leu379Pro)	not specified [RCV005408338]	uncertain significance	20	3916980	3916980	Human		name
616933598	CV4013522	single nucleotide variant	NM_001386393.1(PANK2):c.1180A>G (p.Ile394Val)	Pigmentary pallidal degeneration [RCV005411084]	likely pathogenic	20	3917024	3917024	Human	1	name
13786855	CV549805	single nucleotide variant	NM_001386393.1(PANK2):c.1163C>T (p.Thr388Ile)	not provided [RCV000675595]	uncertain significance	20	3917007	3917007	Human		name
13810854	CV573499	single nucleotide variant	NM_001386393.1(PANK2):c.1024G>T (p.Asp342Tyr)	Pigmentary pallidal degeneration [RCV000702793]	likely pathogenic\|uncertain significance	20	3912576	3912576	Human	1	name
13821129	CV575098	single nucleotide variant	NM_001386393.1(PANK2):c.1010A>G (p.Asp337Gly)	Pigmentary pallidal degeneration [RCV000695445]\|not provided [RCV003442036]	uncertain significance	20	3912562	3912562	Human	1	name
13814452	CV575099	single nucleotide variant	NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV000764234]\|Pigmentary pallidal degeneration [RCV000690887]\|not provided [RCV001815429]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	20	3923290	3923290	Human	1	name
13827524	CV578574	single nucleotide variant	NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV000714592]\|Pigmentary pallidal degeneration [RCV000714591]	conflicting interpretations of pathogenicity\|uncertain significance	20	3916956	3916956	Human	1	name
14714369	CV648668	single nucleotide variant	NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val)	Pigmentary pallidal degeneration [RCV000796153]\|not provided [RCV004792478]	pathogenic\|likely pathogenic\|uncertain significance	20	3918719	3918719	Human	1	name
14715825	CV648669	single nucleotide variant	NM_001386393.1(PANK2):c.1263G>A (p.Met421Ile)	Pigmentary pallidal degeneration [RCV000801618]	uncertain significance	20	3918727	3918727	Human	1	name
14705396	CV654901	single nucleotide variant	NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter)	Pigmentary pallidal degeneration [RCV000826147]\|not provided [RCV003320762]	pathogenic\|likely pathogenic	20	3912573	3912573	Human	1	name
21073179	CV791982	single nucleotide variant	NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser)	Pigmentary pallidal degeneration [RCV000990273]	likely pathogenic	20	3916995	3916995	Human	1	name
21404678	CV801198	single nucleotide variant	NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)	Dystonic disorder [RCV001003627]\|Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV002479198]\|Pigmentary pallidal degeneration [RCV001138967]\|not provided [RCV001772184]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	20	3916946	3916946	Human	3	name
28890241	CV886083	single nucleotide variant	NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu)	Inborn genetic diseases [RCV004659358]\|Pigmentary pallidal degeneration [RCV001138968]\|not provided [RCV004761938]	uncertain significance	20	3917033	3917033	Human	2	name
38476647	CV929182	single nucleotide variant	NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly)	Pigmentary pallidal degeneration [RCV001215749]\|not provided [RCV003132279]	pathogenic\|likely pathogenic\|uncertain significance	20	3912577	3912577	Human	1	name
38476893	CV929183	single nucleotide variant	NM_001386393.1(PANK2):c.1336T>C (p.Tyr446His)	Pigmentary pallidal degeneration [RCV001215873]	likely pathogenic\|uncertain significance	20	3923247	3923247	Human	1	name
126734012	CV999003	single nucleotide variant	NM_001386393.1(PANK2):c.1160T>C (p.Ile387Thr)	Pigmentary pallidal degeneration [RCV001294292]	uncertain significance	20	3917004	3917004	Human	1	name
405130088	CV2905506	deletion	NM_001386393.1(PANK2):c.185_197del (p.Val62fs)	Pigmentary pallidal degeneration [RCV003502040]	pathogenic	20	3889610	3889622	Human	1	name
405084765	CV3008018	deletion	NM_001386393.1(PANK2):c.189_201del (p.Ala64fs)	Pigmentary pallidal degeneration [RCV003613234]	pathogenic	20	3889616	3889628	Human	1	name
405215733	CV3160747	insertion	NM_001386393.1(PANK2):c.1083-9_1083-8insTTCCCT	Pigmentary pallidal degeneration [RCV003862809]	likely benign	20	3916918	3916919	Human	1	name
13520339	CV495744	deletion	NM_001386393.1(PANK2):c.175_182del (p.Ser59fs)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV002506443]\|Pigmentary pallidal degeneration [RCV000990270]\|not provided [RCV000598553]	pathogenic\|likely pathogenic	20	3889604	3889611	Human	1	name
13804582	CV551627	deletion	NM_153638.2(PANK2):c.(?_-6)_(1662+1_1663-1)del	Cone-rod dystrophy [RCV000678588]	pathogenic	20	3889095	3918797	Human	3	name
40889913	CV975550	deletion	NM_001386393.1(PANK2):c.209_231del (p.Glu70fs)	not provided [RCV001268431]	pathogenic	20	3889636	3889658	Human		name
155911972	CV1935280	insertion	NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs)	Pigmentary pallidal degeneration [RCV002510609]\|Retinal dystrophy [RCV004817041]\|not provided [RCV003138286]	pathogenic	20	3889645	3889646	Human	3	name
8558138	CV19586	deletion	NM_001386393.1(PANK2):c.600_606del (p.Phe201fs)	Pigmentary pallidal degeneration [RCV000004806]	pathogenic	20	3908224	3908230	Human	1	name
401855582	CV2753000	microsatellite	NM_001386393.1(PANK2):c.498_499del (p.Cys166fs)	Pigmentary pallidal degeneration [RCV003338055]	pathogenic\|likely pathogenic	20	3908121	3908122	Human		name
402469673	CV2888164	insertion	NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCT	Pigmentary pallidal degeneration [RCV003504159]	likely benign	20	3916912	3916913	Human	1	name
405082641	CV2998598	deletion	NM_001386393.1(PANK2):c.949_961del (p.Gly317fs)	Pigmentary pallidal degeneration [RCV003613067]	pathogenic	20	3912500	3912512	Human	1	name
405144764	CV3155812	deletion	NM_001386393.1(PANK2):c.371_380del (p.Thr124fs)	Pigmentary pallidal degeneration [RCV003855854]	pathogenic	20	3907997	3908006	Human	1	name
597651882	CV3720740	duplication	NM_001386393.1(PANK2):c.953_954dup (p.Thr319fs)	Pigmentary pallidal degeneration [RCV005026934]	likely pathogenic	20	3912503	3912504	Human	1	name
12894412	CV410753	microsatellite	NM_001386393.1(PANK2):c.940CTT[1] (p.Leu315del)	Pigmentary pallidal degeneration [RCV003502530]\|not provided [RCV000482738]	pathogenic\|likely pathogenic	20	3912491	3912493	Human		name
13613471	CV534089	duplication	NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs)	Pigmentary pallidal degeneration [RCV000631202]	pathogenic\|likely pathogenic	20	3912471	3912472	Human	1	name
14702157	CV648666	duplication	NM_001386393.1(PANK2):c.521_525dup (p.Arg176fs)	Pigmentary pallidal degeneration [RCV000822290]	pathogenic	20	3908147	3908148	Human	1	name
21075012	CV798763	deletion	NM_001386393.1(PANK2):c.755_758del (p.Tyr252fs)	Pigmentary pallidal degeneration [RCV000995828]\|not provided [RCV005243443]	pathogenic	20	3910678	3910681	Human	1	name
26893620	CV848386	microsatellite	NM_001386393.1(PANK2):c.493_494del (p.Leu165fs)	Pigmentary pallidal degeneration [RCV001069094]	pathogenic\|likely pathogenic	20	3908118	3908119	Human		name
11645488	CV350965	insertion	NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT	Pigmentary pallidal degeneration [RCV000265618]\|not provided [RCV000675593]	benign\|likely benign	20	3916912	3916913	Human	1	name
151882350	CV1364164	insertion	NM_001386393.1(PANK2):c.440_441insCT (p.Tyr148fs)	Pigmentary pallidal degeneration [RCV001999812]	pathogenic	20	3908067	3908068	Human	1	name
151772614	CV1367154	indel	NM_001386393.1(PANK2):c.21_22delinsTT (p.Gln8Ter)	Pigmentary pallidal degeneration [RCV001988385]	uncertain significance	20	3889451	3889452	Human		name
243052880	CV2418037	duplication	NM_001386393.1(PANK2):c.1171_1174dup (p.Gly392fs)	Pigmentary pallidal degeneration [RCV003153102]	pathogenic	20	3917014	3917015	Human	1	name
405075227	CV3072226	deletion	NM_001386393.1(PANK2):c.1261_1262del (p.Met421fs)	Pigmentary pallidal degeneration [RCV003612472]	pathogenic	20	3918725	3918726	Human	1	name
597651910	CV3720743	duplication	NM_001386393.1(PANK2):c.1324_1330dup (p.Glu444fs)	Pigmentary pallidal degeneration [RCV005026937]	likely pathogenic	20	3918785	3918786	Human	1	name
13509361	CV404597	deletion	NM_001386393.1(PANK2):c.1096_1099del (p.Met366fs)	Pigmentary pallidal degeneration [RCV000578477]	pathogenic	20	3916940	3916943	Human	1	name
26916940	CV848387	deletion	NM_001386393.1(PANK2):c.1352_1371del (p.Gly451fs)	Pigmentary pallidal degeneration [RCV001056669]	pathogenic\|likely pathogenic	20	3923254	3923273	Human	1	name
13836567	CV587842	indel	NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr)	Pigmentary pallidal degeneration [RCV001855692]\|not provided [RCV000732725]	uncertain significance	20	3889606	3889607	Human		name
40890203	CV975553	insertion	NM_001386393.1(PANK2):c.1245_1246insTA (p.Ile416Ter)	not provided [RCV001268835]	likely pathogenic	20	3918708	3918709	Human		name
156094981	CV2114284	indel	NM_001386393.1(PANK2):c.502_503delinsAC (p.Arg168Thr)	Pigmentary pallidal degeneration [RCV002926823]	uncertain significance	20	3908129	3908130	Human		name
405131165	CV2906117	deletion	NM_001386393.1(PANK2):c.806del (p.Asp268_Leu269insTer)	Pigmentary pallidal degeneration [RCV003502152]	pathogenic	20	3910729	3910729	Human	1	name
38478394	CV929180	duplication	NM_001386393.1(PANK2):c.415_495dup (p.Arg139_Leu165dup)	Pigmentary pallidal degeneration [RCV001216578]	uncertain significance	20	3908041	3908042	Human	1	name
401855732	CV2753174	deletion	NM_001386393.1(PANK2):c.1248_1256del (p.Asn417_Ile419del)	Pigmentary pallidal degeneration [RCV003338230]	uncertain significance	20	3918710	3918718	Human	1	name
616933596	CV4013524	deletion	NM_001386393.1(PANK2):c.849_850del (p.Gly283_Val284insTer)	Pigmentary pallidal degeneration [RCV005411086]	pathogenic	20	3910772	3910773	Human	1	name
13498523	CV470368	deletion	NM_001386393.1(PANK2):c.846_847del (p.Gly283_Val284insTer)	Pigmentary pallidal degeneration [RCV000529253]\|not provided [RCV003128624]	pathogenic	20	3910771	3910772	Human	1	name
21073175	CV791980	deletion	NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV002245821]\|Pigmentary pallidal degeneration [RCV000990271]\|See cases [RCV002252289]	pathogenic\|likely pathogenic	20	3889669	3889670	Human	1	name
402465406	CV2909176	deletion	NM_001386393.1(PANK2):c.1090_1096del (p.Gly363_Asn364insTer)	Pigmentary pallidal degeneration [RCV003503001]	pathogenic	20	3916932	3916938	Human	1	name
616933599	CV4013521	deletion	NM_001386393.1(PANK2):c.1085_1088del (p.Ser361_Phe362insTer)	Pigmentary pallidal degeneration [RCV005411083]	pathogenic	20	3916929	3916932	Human	1	name
8558151	CV19599	deletion	NM_001386393.1(PANK2):c.1112_1114del (p.Arg371_Glu372delinsGln)	Pigmentary pallidal degeneration [RCV000004822]\|not provided [RCV001574642]	pathogenic\|likely pathogenic	20	3916956	3916958	Human	1	name
156134245	CV1914469	duplication	NM_001386393.1(PANK2):c.141_155dup (p.Pro52_Leu53insArgArgGlnGluPro)	Pigmentary pallidal degeneration [RCV002623427]	uncertain significance	20	3889570	3889571	Human	1	name
243055087	CV2408512	indel	NM_001386393.1(PANK2):c.1030_1055delinsATGGAGCC (p.Tyr344_Gly352delinsMetGluPro)	not provided [RCV003131876]	uncertain significance	20	3912582	3912607	Human		name

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