Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)	SNV Germline	Chr20:3918695	Pathogenic	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Pigmentary pallidal degeneration Inborn genetic diseases Condition: not provided Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Retinitis pigmentosa Pigmentary pallidal degeneration Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA116915	rs_137852959	19 SubmittersRCV000132732 RCV000004807 RCV000190815 RCV000224470 RCV004766980 RCV001588799 RCV002496261
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)	SNV Germline	Chr20:3889670	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA253209	rs_137852960	5 SubmittersRCV000004809
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp)	SNV Germline	Chr20:3908087	Pathogenic/Likely pathogenic	Pigmentary pallidal degeneration Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253211	rs_137852961	5 SubmittersRCV000004810 RCV002460885
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys)	SNV Germline	Chr20:3908153	Pathogenic/Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA253212	rs_137852962	3 SubmittersRCV000004811
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn)	SNV Germline	Chr20:3912634	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA253213	rs_137852963	2 SubmittersRCV000004812
NM_001386393.1(PANK2):c.721T>C (p.Ser241Pro)	SNV Germline	Chr20:3910646	Pathogenic	Pigmentary pallidal degeneration	No Assertion Criteria Provided	CA116918	rs_137852964	1 SubmittersRCV003985014
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala)	SNV Germline	Chr20:3907997	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration not specified	Criteria Provided Conflicting Classifications	CA116921	rs_137852965	4 SubmittersRCV001851655 RCV003234892
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter)	SNV Germline	Chr20:3916955	Pathogenic	Pigmentary pallidal degeneration Dystonic disorder	Criteria Provided Single Submitter	CA253216	rs_137852968	4 SubmittersRCV000821698 RCV001003628
NM_001386393.1(PANK2):c.980T>C (p.Met327Thr)	SNV Germline	Chr20:3912532	Pathogenic	Pigmentary pallidal degeneration	No Assertion Criteria Provided	CA253220	rs_28939088	1 SubmittersRCV003984799
NM_001386393.1(PANK2):c.1083-1G>T	SNV Germline	Chr20:3916926	Pathogenic/Likely pathogenic	Pigmentary pallidal degeneration Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10575487	rs_148987163	5 SubmittersRCV000004821 RCV002247248 RCV002512774
NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter)	SNV Germline	Chr20:3889633	Pathogenic	Pigmentary pallidal degeneration	No Assertion Criteria Provided	CA253224	rs_137852969	1 SubmittersRCV000004823
NM_153638.4(PANK2):c.96C>T (p.Thr32=)	SNV Germline	Chr20:3889196	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA224202	rs_398124549	2 SubmittersRCV000082680 RCV002514447
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly)	SNV Germline	Chr20:3910728	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration Condition: not provided	Criteria Provided Conflicting Classifications	CA9750773	rs_562740927	6 SubmittersRCV000490498 RCV005420769
NM_001386393.1(PANK2):c.-21G>T	SNV Germline	Chr20:3889410	Pathogenic/Likely pathogenic	Condition: not provided Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA10604867	rs_780551883	2 SubmittersRCV000357905 RCV002469097
NM_153638.4(PANK2):c.12C>T (p.Leu4=)	SNV Germline	Chr20:3889112	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA9750454	rs_774784800	3 SubmittersRCV000278980 RCV001454628
NM_001386393.1(PANK2):c.744A>C (p.Ser248=)	SNV Germline	Chr20:3910669	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA9750763	rs_778370524	3 SubmittersRCV000376324 RCV002519282
NM_001386393.1(PANK2):c.780A>G (p.Glu260=)	SNV Germline	Chr20:3910705	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA9750769	rs_375501114	2 SubmittersRCV000345334 RCV001405934
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)	SNV Germline	Chr20:3889380	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary pallidal degeneration PANK2-related disorder	Criteria Provided Conflicting Classifications	CA9750523	rs_199680057	5 SubmittersRCV000359501 RCV001141449 RCV003957511
NM_153638.4(PANK2):c.54A>G (p.Ser18=)	SNV Germline	Chr20:3889154	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA10643832	rs_886056650	2 SubmittersRCV000383282
NM_001386393.1(PANK2):c.298+15G>C	SNV Germline	Chr20:3889743	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA9750620	rs_566953264	2 SubmittersRCV000391971
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)	SNV Germline	Chr20:3912540	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9750815	rs_201329683	3 SubmittersRCV000355680 RCV002523160
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp)	SNV Germline	Chr20:3910664	Pathogenic	Neurodegeneration Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA9750761	rs_753376100	4 SubmittersRCV000414787 RCV001196627 RCV003401407
NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu)	SNV Germline	Chr20:3907941	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary pallidal degeneration not specified	Criteria Provided Conflicting Classifications	CA9750673	rs_762879569	3 SubmittersRCV000493982 RCV000631200 RCV005431705
NM_001386393.1(PANK2):c.651+3A>G	SNV Germline	Chr20:3908281	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA645369748	rs_1131691472	2 SubmittersRCV000494403 RCV001851354
NM_001386393.1(PANK2):c.*40G>C	SNV Germline	Chr20:3923334	Likely pathogenic	Pigmentary pallidal degeneration	No Assertion Criteria Provided	CA645372658	rs_1131692166	1 SubmittersRCV000495834
NM_001386393.1(PANK2):c.905+1G>T	SNV Germline	Chr20:3910831	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408115849	rs_1135401789	1 SubmittersRCV000496161
NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter)	SNV Germline	Chr20:3908233	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408112916	rs_1555787799	1 SubmittersRCV000500586
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys)	SNV Germline	Chr20:3907977	Pathogenic	Pigmentary pallidal degeneration Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA408112247	rs_1555787646	5 SubmittersRCV000544004 RCV002466529
NM_001386393.1(PANK2):c.294G>A (p.Arg98=)	SNV Germline	Chr20:3889724	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA509428107	rs_1443740202	2 SubmittersRCV000591482 RCV002062067
NM_001386393.1(PANK2):c.906-2A>C	SNV Germline	Chr20:3912456	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408117112	rs_1261714833	1 SubmittersRCV000631201
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln)	SNV Germline	Chr20:3889483	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration not specified	Criteria Provided Conflicting Classifications	CA9750569	rs_546381069	3 SubmittersRCV000631205 RCV002282271
NM_001386393.1(PANK2):c.734A>G (p.Asn245Ser)	SNV Germline	Chr20:3910659	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA9750760	rs_746484727	3 SubmittersRCV000685837
NM_001386393.1(PANK2):c.1024G>T (p.Asp342Tyr)	SNV Germline	Chr20:3912576	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408117737	rs_1568575271	1 SubmittersRCV000702793
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu)	SNV Germline	Chr20:3923290	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Pigmentary pallidal degeneration Condition: not provided	Criteria Provided Conflicting Classifications	CA9750964	rs_41279408	5 SubmittersRCV000690887 RCV000764234 RCV001815429
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro)	SNV Germline	Chr20:3916956	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	Criteria Provided Conflicting Classifications	CA408119285	rs_1241995212	3 SubmittersRCV000714591 RCV000714592
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile)	SNV Germline	Chr20:3910806	Pathogenic/Likely pathogenic	Pigmentary pallidal degeneration Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9750785	rs_752078407	6 SubmittersRCV000803081 RCV001815438
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val)	SNV Germline	Chr20:3918719	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration Condition: not provided	Criteria Provided Conflicting Classifications	CA9750929	rs_761156912	3 SubmittersRCV000796153 RCV004792478
NM_001386393.1(PANK2):c.1082+1G>C	SNV Germline	Chr20:3912635	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA408118080	rs_1600548506	3 SubmittersRCV000808102
NM_001386393.1(PANK2):c.1207-3C>G	SNV Germline	Chr20:3918668	Pathogenic/Likely pathogenic	Pigmentary pallidal degeneration Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA311040017	rs_370766524	3 SubmittersRCV000803694 RCV003233854
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter)	SNV Germline	Chr20:3912573	Pathogenic	Condition: not provided Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA408117730	rs_1250997630	4 SubmittersRCV003320762 RCV000826147
NM_001386393.1(PANK2):c.255G>T (p.Ser85=)	SNV Germline	Chr20:3889685	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration Condition: not provided	Criteria Provided Conflicting Classifications	CA9750609	rs_375741383	3 SubmittersRCV000952180 RCV002462235
NM_001386393.1(PANK2):c.18G>A (p.Gly6=)	SNV Germline	Chr20:3889448	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA9750555	rs_750766653	2 SubmittersRCV000893261
NM_001386393.1(PANK2):c.258C>G (p.Val86=)	SNV Germline	Chr20:3889688	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA9750610	rs_746054643	2 SubmittersRCV000912721
NM_001386393.1(PANK2):c.694T>C (p.Leu232=)	SNV Germline	Chr20:3910619	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA9750754	rs_143090515	2 SubmittersRCV001138964
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)	SNV Germline	Chr20:3910665	Pathogenic/Likely pathogenic	Pigmentary pallidal degeneration Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA311035065	rs_754521581	5 SubmittersRCV000990272 RCV003151260
NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser)	SNV Unknown	Chr20:3916995	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA311038836	rs_111863748	1 SubmittersRCV000990273
NM_153638.4(PANK2):c.159C>T (p.Gly53=)	SNV Germline	Chr20:3889259	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA509565720	rs_1485088384	2 SubmittersRCV000997738 RCV001858861
NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter)	SNV Germline	Chr20:3910681	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408114960	rs_1600542275	1 SubmittersRCV000995829
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)	SNV Germline	Chr20:3916946	Conflicting classifications of pathogenicity	Dystonic disorder Pigmentary pallidal degeneration Pigmentary pallidal degeneration Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Condition: not provided	Criteria Provided Conflicting Classifications	CA9750867	rs_559623184	7 SubmittersRCV001003627 RCV001138967 RCV002479198 RCV001772184
NM_001386393.1(PANK2):c.-28C>T	SNV Germline	Chr20:3889403	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration PANK2-related disorder	Criteria Provided Conflicting Classifications	CA9750537	rs_544239478	3 SubmittersRCV001141452 RCV003953517
NM_001386393.1(PANK2):c.-10G>A	SNV Germline	Chr20:3889421	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA9750545	rs_771710781	2 SubmittersRCV001141453
NM_001386393.1(PANK2):c.54G>C (p.Arg18=)	SNV Germline	Chr20:3889484	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA311088837	rs_930563925	2 SubmittersRCV001143295
NM_001386393.1(PANK2):c.66C>T (p.Pro22=)	SNV Germline	Chr20:3889496	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA9750574	rs_754198411	2 SubmittersRCV001143296
NM_001386393.1(PANK2):c.255G>A (p.Ser85=)	SNV Germline	Chr20:3889685	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA509566352	rs_375741383	2 SubmittersRCV001136716
NM_001386393.1(PANK2):c.717T>C (p.Ile239=)	SNV Germline	Chr20:3910642	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA509422740	rs_1742717583	2 SubmittersRCV001138965
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=)	SNV Germline	Chr20:3912617	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration Condition: not provided	Criteria Provided Conflicting Classifications	CA9750824	rs_564606657	3 SubmittersRCV001138966 RCV005241428
NM_001386393.1(PANK2):c.298+10C>T	SNV Germline	Chr20:3889738	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA9750619	rs_755815669	2 SubmittersRCV001136717
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly)	SNV Germline	Chr20:3912577	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration Condition: not provided	Criteria Provided Conflicting Classifications	CA9750821	rs_763496520	4 SubmittersRCV001215749 RCV003132279
NM_001386393.1(PANK2):c.1336T>C (p.Tyr446His)	SNV Germline	Chr20:3923247	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408122660	rs_2090674561	1 SubmittersRCV001215873
NM_153638.4(PANK2):c.34C>T (p.His12Tyr)	SNV Germline	Chr20:3889134	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9750457	rs_374286033	3 SubmittersRCV001203887 RCV003994233 RCV004033593
NM_001386393.1(PANK2):c.115G>T (p.Glu39Ter)	SNV Germline	Chr20:3889545	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA311088882	rs_528889529	1 SubmittersRCV001206525
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)	SNV Germline	Chr20:3908088	Pathogenic/Likely pathogenic	Condition: not provided Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA9750696	rs_368682034	4 SubmittersRCV001268386 RCV002537709
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp)	SNV Germline	Chr20:3910808	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA408115694	rs_1288629241	2 SubmittersRCV001289540
NM_001386393.1(PANK2):c.1083-4A>C	SNV Germline	Chr20:3916923	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA9750863	rs_562997544	2 SubmittersRCV001310447 RCV001413996
NM_001386393.1(PANK2):c.905+1G>C	SNV Germline	Chr20:3910831	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA408115847	rs_1135401789	2 SubmittersRCV001331812
NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser)	SNV Germline	Chr20:3907980	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408112255	rs_1360807330	1 SubmittersRCV001379451
NM_001386393.1(PANK2):c.67A>G (p.Met23Val)	SNV Germline	Chr20:3889497	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration not specified	Criteria Provided Conflicting Classifications	CA408140876	rs_2146804825	2 SubmittersRCV001420152 RCV004526850
NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr)	SNV Germline	Chr20:3910691	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408115029	rs_777624606	1 SubmittersRCV001420153
NM_001386393.1(PANK2):c.1277A>G (p.Tyr426Cys)	SNV Germline	Chr20:3918741	Conflicting classifications of pathogenicity	not specified Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA408120575	rs_1193865095	2 SubmittersRCV001779503 RCV003502606
NM_001386393.1(PANK2):c.682G>T (p.Glu228Ter)	SNV Germline	Chr20:3910607	Pathogenic	Condition: not provided Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA408114501	rs_2146866795	2 SubmittersRCV001784796 RCV003992549
NM_153638.4(PANK2):c.187C>T (p.Pro63Ser)	SNV Germline	Chr20:3889287	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA408139511	rs_1452787032	3 SubmittersRCV001911636 RCV004793584 RCV005465581
NM_001386393.1(PANK2):c.944T>C (p.Leu315Pro)	SNV Germline	Chr20:3912496	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408117348	rs_2146872522	1 SubmittersRCV001935746
NM_001386393.1(PANK2):c.55C>T (p.Leu19Phe)	SNV Germline	Chr20:3889485	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9750571	rs_772205776	2 SubmittersRCV001905248 RCV005465544
NM_001386393.1(PANK2):c.652-1G>C	SNV Germline	Chr20:3910576	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408114325	rs_2146866687	1 SubmittersRCV001975059
NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter)	SNV Germline	Chr20:3910589	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA408114379	rs_777414421	2 SubmittersRCV002266168
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr)	SNV Germline	Chr20:3910710	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA9750770	rs_149907912	2 SubmittersRCV002468953
NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter)	SNV Germline	Chr20:3910810	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408115709	rs_1258656410	1 SubmittersRCV003050551
NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr)	SNV Germline	Chr20:3916938	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408119242	rs_2515521969	1 SubmittersRCV003064597
NM_001386393.1(PANK2):c.325G>A (p.Gly109Ser)	SNV Germline	Chr20:3907952	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408112198	rs_1209839076	1 SubmittersRCV003226007
NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)	SNV Germline	Chr20:3917016	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA408119415	rs_775459398	2 SubmittersRCV003236339
NM_001386393.1(PANK2):c.1129G>A (p.Glu377Lys)	SNV Germline	Chr20:3916973	Pathogenic	Pigmentary pallidal degeneration Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	Criteria Provided Single Submitter	CA408119323	rs_2515522322	1 SubmittersRCV003326731
NM_001386393.1(PANK2):c.652-2A>G	SNV Germline	Chr20:3910575	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408114320	rs_2515498921	1 SubmittersRCV003338101
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)	SNV Germline	Chr20:3910812	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA408115727	rs_763608502	2 SubmittersRCV003388770
NM_001386393.1(PANK2):c.1009G>T (p.Asp337Tyr)	SNV Germline	Chr20:3912561	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408117659	rs_2515506277	1 SubmittersRCV003389134
NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)	SNV Germline	Chr20:3889534	Pathogenic	Pigmentary pallidal degeneration PANK2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA9750579	rs_777111649	2 SubmittersRCV003502731 RCV003417114
NM_001386393.1(PANK2):c.1061C>G (p.Pro354Arg)	SNV Germline	Chr20:3912613	Pathogenic/Likely pathogenic	Condition: not provided Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA408117961	rs_2515506542	2 SubmittersRCV003442316 RCV003502735
NM_001386393.1(PANK2):c.1196C>T (p.Ala399Val)	SNV Unknown	Chr20:3917040	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408119528	rs_1230118868	1 SubmittersRCV003455851
NM_001386393.1(PANK2):c.118C>T (p.Gln40Ter)	SNV Germline	Chr20:3889548	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408141216	rs_1421161193	1 SubmittersRCV003504088
NM_001386393.1(PANK2):c.308G>A (p.Trp103Ter)	SNV Germline	Chr20:3907935	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408112118	rs_1350217989	1 SubmittersRCV003504416
NM_001386393.1(PANK2):c.299-1G>A	SNV Germline	Chr20:3907925	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA408112069	rs_2515489381	2 SubmittersRCV003502041
NM_001386393.1(PANK2):c.445G>A (p.Gly149Arg)	SNV Germline	Chr20:3908072	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408112461	rs_2515490171	1 SubmittersRCV003502042
NM_001386393.1(PANK2):c.635A>G (p.Glu212Gly)	SNV Germline	Chr20:3908262	Pathogenic/Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA9750727	rs_768230831	2 SubmittersRCV003502043
NM_001386393.1(PANK2):c.636G>T (p.Glu212Asp)	SNV Germline	Chr20:3908263	Pathogenic/Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA311034304	rs_974575417	2 SubmittersRCV003502044
NM_001386393.1(PANK2):c.1139C>T (p.Ala380Val)	SNV Germline	Chr20:3916983	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408119348	rs_2090571332	1 SubmittersRCV003502045
NM_001386393.1(PANK2):c.1145C>T (p.Ala382Val)	SNV Germline	Chr20:3916989	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408119361	rs_1254386724	1 SubmittersRCV003502046
NM_001386393.1(PANK2):c.1172T>C (p.Ile391Thr)	SNV Germline	Chr20:3917016	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA9750877	rs_775459398	1 SubmittersRCV003502047
NM_001386393.1(PANK2):c.1184C>A (p.Ala395Glu)	SNV Germline	Chr20:3917028	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408119466	rs_2515522711	1 SubmittersRCV003502048
NM_001386393.1(PANK2):c.1264C>T (p.Arg422Trp)	SNV Germline	Chr20:3918728	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA408120515	rs_2090601656	2 SubmittersRCV003502049
NM_001386393.1(PANK2):c.1330G>A (p.Glu444Lys)	SNV Germline	Chr20:3918794	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408120898	rs_1328306876	1 SubmittersRCV003502050
NM_001386393.1(PANK2):c.1357C>T (p.Leu453Phe)	SNV Germline	Chr20:3923268	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA311043200	rs_905986782	1 SubmittersRCV003611809
NM_001386393.1(PANK2):c.1025A>C (p.Asp342Ala)	SNV Germline	Chr20:3912577	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA311035732	rs_763496520	1 SubmittersRCV003613074
NM_001386393.1(PANK2):c.1083-1G>A	SNV Germline	Chr20:3916926	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408119212	rs_148987163	1 SubmittersRCV003611135
NM_001386393.1(PANK2):c.1358T>A (p.Leu453His)	SNV Germline	Chr20:3923269	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408122816	rs_1324077575	1 SubmittersRCV003611136
NM_001386393.1(PANK2):c.6G>A (p.Gly2=)	SNV Germline	Chr20:3889436	Conflicting classifications of pathogenicity	Pigmentary pallidal degeneration Condition: not provided	Criteria Provided Conflicting Classifications	CA509566445	rs_1337186041	2 SubmittersRCV003612159 RCV005255770
NM_001386393.1(PANK2):c.1025A>T (p.Asp342Val)	SNV Germline	Chr20:3912577	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408117743	rs_763496520	1 SubmittersRCV003862633
NM_001386393.1(PANK2):c.817T>C (p.Tyr273His)	SNV Germline	Chr20:3910742	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter	CA408115236	rs_2515500101	1 SubmittersRCV003851493
NM_001386393.1(PANK2):c.1253C>G (p.Thr418Arg)	SNV Germline	Chr20:3918717	Conflicting classifications of pathogenicity	not specified Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications	CA408120453	rs_137852967	2 SubmittersRCV004526424 RCV005023561
NM_001386393.1(PANK2):c.298+5G>C	SNV Germline	Chr20:3889733	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary pallidal degeneration	Criteria Provided Conflicting Classifications			2 SubmittersRCV004720158 RCV005023655
NM_001386393.1(PANK2):c.1358T>C (p.Leu453Pro)	SNV Germline	Chr20:3923269	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter			1 SubmittersRCV004783370
NM_001386393.1(PANK2):c.1169A>T (p.Asn390Ile)	SNV Germline	Chr20:3917013	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter			1 SubmittersRCV005026935
NM_001386393.1(PANK2):c.673A>G (p.Lys225Glu)	SNV Germline	Chr20:3910598	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter			1 SubmittersRCV005196039
NM_001386393.1(PANK2):c.838A>T (p.Ile280Phe)	SNV Germline	Chr20:3910763	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter			1 SubmittersRCV005238471
NM_001386393.1(PANK2):c.442T>C (p.Tyr148His)	SNV Germline	Chr20:3908069	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter			1 SubmittersRCV005411066
NM_001386393.1(PANK2):c.535A>T (p.Thr179Ser)	SNV Germline	Chr20:3908162	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter			1 SubmittersRCV005411077
NM_001386393.1(PANK2):c.1180A>G (p.Ile394Val)	SNV Germline	Chr20:3917024	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter			1 SubmittersRCV005411084
NM_001386393.1(PANK2):c.299-6383A>G	SNV Germline	Chr20:3901543	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter			1 SubmittersRCV005411085
NM_001386393.1(PANK2):c.736G>T (p.Gly246Ter)	SNV Germline	Chr20:3910661	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter			1 SubmittersRCV005411087
NM_001386393.1(PANK2):c.651+633C>T	SNV Germline	Chr20:3908911	Pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter			1 SubmittersRCV005411088
NM_001386393.1(PANK2):c.298+2T>C	SNV Germline	Chr20:3889730	Likely pathogenic	Pigmentary pallidal degeneration	Criteria Provided Single Submitter			1 SubmittersRCV005413230

NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)

SNV
Germline

Chr20:3918695

Pathogenic

Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Pigmentary pallidal degeneration
Inborn genetic diseases
Condition: not provided
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Retinitis pigmentosa
Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA116915

rs_137852959

19 SubmittersRCV000132732 RCV000004807 RCV000190815 RCV000224470 RCV004766980 RCV001588799 RCV002496261

NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)

SNV
Germline

Chr20:3889670

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA253209

rs_137852960

5 SubmittersRCV000004809

NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp)

SNV
Germline

Chr20:3908087

Pathogenic/Likely pathogenic

Pigmentary pallidal degeneration
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253211

rs_137852961

5 SubmittersRCV000004810 RCV002460885

NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys)

SNV
Germline

Chr20:3908153

Pathogenic/Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA253212

rs_137852962

3 SubmittersRCV000004811

NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn)

SNV
Germline

Chr20:3912634

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA253213

rs_137852963

2 SubmittersRCV000004812

NM_001386393.1(PANK2):c.721T>C (p.Ser241Pro)

SNV
Germline

Chr20:3910646

Pathogenic

Pigmentary pallidal degeneration

No Assertion Criteria Provided

CA116918

rs_137852964

1 SubmittersRCV003985014

NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala)

SNV
Germline

Chr20:3907997

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
not specified

Criteria Provided
Conflicting Classifications

CA116921

rs_137852965

4 SubmittersRCV001851655 RCV003234892

NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter)

SNV
Germline

Chr20:3916955

Pathogenic

Pigmentary pallidal degeneration
Dystonic disorder

Criteria Provided
Single Submitter

CA253216

rs_137852968

4 SubmittersRCV000821698 RCV001003628

NM_001386393.1(PANK2):c.980T>C (p.Met327Thr)

SNV
Germline

Chr20:3912532

Pathogenic

Pigmentary pallidal degeneration

No Assertion Criteria Provided

CA253220

rs_28939088

1 SubmittersRCV003984799

NM_001386393.1(PANK2):c.1083-1G>T

SNV
Germline

Chr20:3916926

Pathogenic/Likely pathogenic

Pigmentary pallidal degeneration
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10575487

rs_148987163

5 SubmittersRCV000004821 RCV002247248 RCV002512774

NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter)

SNV
Germline

Chr20:3889633

Pathogenic

Pigmentary pallidal degeneration

No Assertion Criteria Provided

CA253224

rs_137852969

1 SubmittersRCV000004823

NM_153638.4(PANK2):c.96C>T (p.Thr32=)

SNV
Germline

Chr20:3889196

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA224202

rs_398124549

2 SubmittersRCV000082680 RCV002514447

NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly)

SNV
Germline

Chr20:3910728

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9750773

rs_562740927

6 SubmittersRCV000490498 RCV005420769

NM_001386393.1(PANK2):c.-21G>T

SNV
Germline

Chr20:3889410

Pathogenic/Likely pathogenic

Condition: not provided
Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA10604867

rs_780551883

2 SubmittersRCV000357905 RCV002469097

NM_153638.4(PANK2):c.12C>T (p.Leu4=)

SNV
Germline

Chr20:3889112

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA9750454

rs_774784800

3 SubmittersRCV000278980 RCV001454628

NM_001386393.1(PANK2):c.744A>C (p.Ser248=)

SNV
Germline

Chr20:3910669

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA9750763

rs_778370524

3 SubmittersRCV000376324 RCV002519282

NM_001386393.1(PANK2):c.780A>G (p.Glu260=)

SNV
Germline

Chr20:3910705

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA9750769

rs_375501114

2 SubmittersRCV000345334 RCV001405934

NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)

SNV
Germline

Chr20:3889380

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary pallidal degeneration
PANK2-related disorder

Criteria Provided
Conflicting Classifications

CA9750523

rs_199680057

5 SubmittersRCV000359501 RCV001141449 RCV003957511

NM_153638.4(PANK2):c.54A>G (p.Ser18=)

SNV
Germline

Chr20:3889154

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA10643832

rs_886056650

2 SubmittersRCV000383282

NM_001386393.1(PANK2):c.298+15G>C

SNV
Germline

Chr20:3889743

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA9750620

rs_566953264

2 SubmittersRCV000391971

NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)

SNV
Germline

Chr20:3912540

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9750815

rs_201329683

3 SubmittersRCV000355680 RCV002523160

NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp)

SNV
Germline

Chr20:3910664

Pathogenic

Neurodegeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA9750761

rs_753376100

4 SubmittersRCV000414787 RCV001196627 RCV003401407

NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu)

SNV
Germline

Chr20:3907941

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary pallidal degeneration
not specified

Criteria Provided
Conflicting Classifications

CA9750673

rs_762879569

3 SubmittersRCV000493982 RCV000631200 RCV005431705

NM_001386393.1(PANK2):c.651+3A>G

SNV
Germline

Chr20:3908281

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA645369748

rs_1131691472

2 SubmittersRCV000494403 RCV001851354

NM_001386393.1(PANK2):c.*40G>C

SNV
Germline

Chr20:3923334

Likely pathogenic

Pigmentary pallidal degeneration

No Assertion Criteria Provided

CA645372658

rs_1131692166

1 SubmittersRCV000495834

NM_001386393.1(PANK2):c.905+1G>T

SNV
Germline

Chr20:3910831

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408115849

rs_1135401789

1 SubmittersRCV000496161

NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter)

SNV
Germline

Chr20:3908233

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408112916

rs_1555787799

1 SubmittersRCV000500586

NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys)

SNV
Germline

Chr20:3907977

Pathogenic

Pigmentary pallidal degeneration
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA408112247

rs_1555787646

5 SubmittersRCV000544004 RCV002466529

NM_001386393.1(PANK2):c.294G>A (p.Arg98=)

SNV
Germline

Chr20:3889724

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA509428107

rs_1443740202

2 SubmittersRCV000591482 RCV002062067

NM_001386393.1(PANK2):c.906-2A>C

SNV
Germline

Chr20:3912456

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408117112

rs_1261714833

1 SubmittersRCV000631201

NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln)

SNV
Germline

Chr20:3889483

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
not specified

Criteria Provided
Conflicting Classifications

CA9750569

rs_546381069

3 SubmittersRCV000631205 RCV002282271

NM_001386393.1(PANK2):c.734A>G (p.Asn245Ser)

SNV
Germline

Chr20:3910659

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA9750760

rs_746484727

3 SubmittersRCV000685837

NM_001386393.1(PANK2):c.1024G>T (p.Asp342Tyr)

SNV
Germline

Chr20:3912576

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408117737

rs_1568575271

1 SubmittersRCV000702793

NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu)

SNV
Germline

Chr20:3923290

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Pigmentary pallidal degeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9750964

rs_41279408

5 SubmittersRCV000690887 RCV000764234 RCV001815429

NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro)

SNV
Germline

Chr20:3916956

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

Criteria Provided
Conflicting Classifications

CA408119285

rs_1241995212

3 SubmittersRCV000714591 RCV000714592

NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile)

SNV
Germline

Chr20:3910806

Pathogenic/Likely pathogenic

Pigmentary pallidal degeneration
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9750785

rs_752078407

6 SubmittersRCV000803081 RCV001815438

NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val)

SNV
Germline

Chr20:3918719

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9750929

rs_761156912

3 SubmittersRCV000796153 RCV004792478

NM_001386393.1(PANK2):c.1082+1G>C

SNV
Germline

Chr20:3912635

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA408118080

rs_1600548506

3 SubmittersRCV000808102

NM_001386393.1(PANK2):c.1207-3C>G

SNV
Germline

Chr20:3918668

Pathogenic/Likely pathogenic

Pigmentary pallidal degeneration
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA311040017

rs_370766524

3 SubmittersRCV000803694 RCV003233854

NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter)

SNV
Germline

Chr20:3912573

Pathogenic

Condition: not provided
Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA408117730

rs_1250997630

4 SubmittersRCV003320762 RCV000826147

NM_001386393.1(PANK2):c.255G>T (p.Ser85=)

SNV
Germline

Chr20:3889685

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9750609

rs_375741383

3 SubmittersRCV000952180 RCV002462235

NM_001386393.1(PANK2):c.18G>A (p.Gly6=)

SNV
Germline

Chr20:3889448

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA9750555

rs_750766653

2 SubmittersRCV000893261

NM_001386393.1(PANK2):c.258C>G (p.Val86=)

SNV
Germline

Chr20:3889688

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA9750610

rs_746054643

2 SubmittersRCV000912721

NM_001386393.1(PANK2):c.694T>C (p.Leu232=)

SNV
Germline

Chr20:3910619

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA9750754

rs_143090515

2 SubmittersRCV001138964

NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)

SNV
Germline

Chr20:3910665

Pathogenic/Likely pathogenic

Pigmentary pallidal degeneration
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA311035065

rs_754521581

5 SubmittersRCV000990272 RCV003151260

NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser)

SNV
Unknown

Chr20:3916995

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA311038836

rs_111863748

1 SubmittersRCV000990273

NM_153638.4(PANK2):c.159C>T (p.Gly53=)

SNV
Germline

Chr20:3889259

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA509565720

rs_1485088384

2 SubmittersRCV000997738 RCV001858861

NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter)

SNV
Germline

Chr20:3910681

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408114960

rs_1600542275

1 SubmittersRCV000995829

NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)

SNV
Germline

Chr20:3916946

Conflicting classifications of pathogenicity

Dystonic disorder
Pigmentary pallidal degeneration
Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9750867

rs_559623184

7 SubmittersRCV001003627 RCV001138967 RCV002479198 RCV001772184

NM_001386393.1(PANK2):c.-28C>T

SNV
Germline

Chr20:3889403

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
PANK2-related disorder

Criteria Provided
Conflicting Classifications

CA9750537

rs_544239478

3 SubmittersRCV001141452 RCV003953517

NM_001386393.1(PANK2):c.-10G>A

SNV
Germline

Chr20:3889421

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA9750545

rs_771710781

2 SubmittersRCV001141453

NM_001386393.1(PANK2):c.54G>C (p.Arg18=)

SNV
Germline

Chr20:3889484

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA311088837

rs_930563925

2 SubmittersRCV001143295

NM_001386393.1(PANK2):c.66C>T (p.Pro22=)

SNV
Germline

Chr20:3889496

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA9750574

rs_754198411

2 SubmittersRCV001143296

NM_001386393.1(PANK2):c.255G>A (p.Ser85=)

SNV
Germline

Chr20:3889685

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA509566352

rs_375741383

2 SubmittersRCV001136716

NM_001386393.1(PANK2):c.717T>C (p.Ile239=)

SNV
Germline

Chr20:3910642

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA509422740

rs_1742717583

2 SubmittersRCV001138965

NM_001386393.1(PANK2):c.1065C>G (p.Gly355=)

SNV
Germline

Chr20:3912617

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9750824

rs_564606657

3 SubmittersRCV001138966 RCV005241428

NM_001386393.1(PANK2):c.298+10C>T

SNV
Germline

Chr20:3889738

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA9750619

rs_755815669

2 SubmittersRCV001136717

NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly)

SNV
Germline

Chr20:3912577

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9750821

rs_763496520

4 SubmittersRCV001215749 RCV003132279

NM_001386393.1(PANK2):c.1336T>C (p.Tyr446His)

SNV
Germline

Chr20:3923247

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408122660

rs_2090674561

1 SubmittersRCV001215873

NM_153638.4(PANK2):c.34C>T (p.His12Tyr)

SNV
Germline

Chr20:3889134

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9750457

rs_374286033

3 SubmittersRCV001203887 RCV003994233 RCV004033593

NM_001386393.1(PANK2):c.115G>T (p.Glu39Ter)

SNV
Germline

Chr20:3889545

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA311088882

rs_528889529

1 SubmittersRCV001206525

NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)

SNV
Germline

Chr20:3908088

Pathogenic/Likely pathogenic

Condition: not provided
Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA9750696

rs_368682034

4 SubmittersRCV001268386 RCV002537709

NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp)

SNV
Germline

Chr20:3910808

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA408115694

rs_1288629241

2 SubmittersRCV001289540

NM_001386393.1(PANK2):c.1083-4A>C

SNV
Germline

Chr20:3916923

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA9750863

rs_562997544

2 SubmittersRCV001310447 RCV001413996

NM_001386393.1(PANK2):c.905+1G>C

SNV
Germline

Chr20:3910831

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA408115847

rs_1135401789

2 SubmittersRCV001331812

NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser)

SNV
Germline

Chr20:3907980

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408112255

rs_1360807330

1 SubmittersRCV001379451

NM_001386393.1(PANK2):c.67A>G (p.Met23Val)

SNV
Germline

Chr20:3889497

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
not specified

Criteria Provided
Conflicting Classifications

CA408140876

rs_2146804825

2 SubmittersRCV001420152 RCV004526850

NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr)

SNV
Germline

Chr20:3910691

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408115029

rs_777624606

1 SubmittersRCV001420153

NM_001386393.1(PANK2):c.1277A>G (p.Tyr426Cys)

SNV
Germline

Chr20:3918741

Conflicting classifications of pathogenicity

not specified
Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA408120575

rs_1193865095

2 SubmittersRCV001779503 RCV003502606

NM_001386393.1(PANK2):c.682G>T (p.Glu228Ter)

SNV
Germline

Chr20:3910607

Pathogenic

Condition: not provided
Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA408114501

rs_2146866795

2 SubmittersRCV001784796 RCV003992549

NM_153638.4(PANK2):c.187C>T (p.Pro63Ser)

SNV
Germline

Chr20:3889287

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA408139511

rs_1452787032

3 SubmittersRCV001911636 RCV004793584 RCV005465581

NM_001386393.1(PANK2):c.944T>C (p.Leu315Pro)

SNV
Germline

Chr20:3912496

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408117348

rs_2146872522

1 SubmittersRCV001935746

NM_001386393.1(PANK2):c.55C>T (p.Leu19Phe)

SNV
Germline

Chr20:3889485

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9750571

rs_772205776

2 SubmittersRCV001905248 RCV005465544

NM_001386393.1(PANK2):c.652-1G>C

SNV
Germline

Chr20:3910576

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408114325

rs_2146866687

1 SubmittersRCV001975059

NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter)

SNV
Germline

Chr20:3910589

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA408114379

rs_777414421

2 SubmittersRCV002266168

NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr)

SNV
Germline

Chr20:3910710

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA9750770

rs_149907912

2 SubmittersRCV002468953

NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter)

SNV
Germline

Chr20:3910810

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408115709

rs_1258656410

1 SubmittersRCV003050551

NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr)

SNV
Germline

Chr20:3916938

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408119242

rs_2515521969

1 SubmittersRCV003064597

NM_001386393.1(PANK2):c.325G>A (p.Gly109Ser)

SNV
Germline

Chr20:3907952

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408112198

rs_1209839076

1 SubmittersRCV003226007

NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)

SNV
Germline

Chr20:3917016

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA408119415

rs_775459398

2 SubmittersRCV003236339

NM_001386393.1(PANK2):c.1129G>A (p.Glu377Lys)

SNV
Germline

Chr20:3916973

Pathogenic

Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

Criteria Provided
Single Submitter

CA408119323

rs_2515522322

1 SubmittersRCV003326731

NM_001386393.1(PANK2):c.652-2A>G

SNV
Germline

Chr20:3910575

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408114320

rs_2515498921

1 SubmittersRCV003338101

NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)

SNV
Germline

Chr20:3910812

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA408115727

rs_763608502

2 SubmittersRCV003388770

NM_001386393.1(PANK2):c.1009G>T (p.Asp337Tyr)

SNV
Germline

Chr20:3912561

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408117659

rs_2515506277

1 SubmittersRCV003389134

NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)

SNV
Germline

Chr20:3889534

Pathogenic

Pigmentary pallidal degeneration
PANK2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA9750579

rs_777111649

2 SubmittersRCV003502731 RCV003417114

NM_001386393.1(PANK2):c.1061C>G (p.Pro354Arg)

SNV
Germline

Chr20:3912613

Pathogenic/Likely pathogenic

Condition: not provided
Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA408117961

rs_2515506542

2 SubmittersRCV003442316 RCV003502735

NM_001386393.1(PANK2):c.1196C>T (p.Ala399Val)

SNV
Unknown

Chr20:3917040

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408119528

rs_1230118868

1 SubmittersRCV003455851

NM_001386393.1(PANK2):c.118C>T (p.Gln40Ter)

SNV
Germline

Chr20:3889548

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408141216

rs_1421161193

1 SubmittersRCV003504088

NM_001386393.1(PANK2):c.308G>A (p.Trp103Ter)

SNV
Germline

Chr20:3907935

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408112118

rs_1350217989

1 SubmittersRCV003504416

NM_001386393.1(PANK2):c.299-1G>A

SNV
Germline

Chr20:3907925

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA408112069

rs_2515489381

2 SubmittersRCV003502041

NM_001386393.1(PANK2):c.445G>A (p.Gly149Arg)

SNV
Germline

Chr20:3908072

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408112461

rs_2515490171

1 SubmittersRCV003502042

NM_001386393.1(PANK2):c.635A>G (p.Glu212Gly)

SNV
Germline

Chr20:3908262

Pathogenic/Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA9750727

rs_768230831

2 SubmittersRCV003502043

NM_001386393.1(PANK2):c.636G>T (p.Glu212Asp)

SNV
Germline

Chr20:3908263

Pathogenic/Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA311034304

rs_974575417

2 SubmittersRCV003502044

NM_001386393.1(PANK2):c.1139C>T (p.Ala380Val)

SNV
Germline

Chr20:3916983

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408119348

rs_2090571332

1 SubmittersRCV003502045

NM_001386393.1(PANK2):c.1145C>T (p.Ala382Val)

SNV
Germline

Chr20:3916989

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408119361

rs_1254386724

1 SubmittersRCV003502046

NM_001386393.1(PANK2):c.1172T>C (p.Ile391Thr)

SNV
Germline

Chr20:3917016

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA9750877

rs_775459398

1 SubmittersRCV003502047

NM_001386393.1(PANK2):c.1184C>A (p.Ala395Glu)

SNV
Germline

Chr20:3917028

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408119466

rs_2515522711

1 SubmittersRCV003502048

NM_001386393.1(PANK2):c.1264C>T (p.Arg422Trp)

SNV
Germline

Chr20:3918728

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA408120515

rs_2090601656

2 SubmittersRCV003502049

NM_001386393.1(PANK2):c.1330G>A (p.Glu444Lys)

SNV
Germline

Chr20:3918794

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408120898

rs_1328306876

1 SubmittersRCV003502050

NM_001386393.1(PANK2):c.1357C>T (p.Leu453Phe)

SNV
Germline

Chr20:3923268

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA311043200

rs_905986782

1 SubmittersRCV003611809

NM_001386393.1(PANK2):c.1025A>C (p.Asp342Ala)

SNV
Germline

Chr20:3912577

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA311035732

rs_763496520

1 SubmittersRCV003613074

NM_001386393.1(PANK2):c.1083-1G>A

SNV
Germline

Chr20:3916926

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408119212

rs_148987163

1 SubmittersRCV003611135

NM_001386393.1(PANK2):c.1358T>A (p.Leu453His)

SNV
Germline

Chr20:3923269

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408122816

rs_1324077575

1 SubmittersRCV003611136

NM_001386393.1(PANK2):c.6G>A (p.Gly2=)

SNV
Germline

Chr20:3889436

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA509566445

rs_1337186041

2 SubmittersRCV003612159 RCV005255770

NM_001386393.1(PANK2):c.1025A>T (p.Asp342Val)

SNV
Germline

Chr20:3912577

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408117743

rs_763496520

1 SubmittersRCV003862633

NM_001386393.1(PANK2):c.817T>C (p.Tyr273His)

SNV
Germline

Chr20:3910742

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

CA408115236

rs_2515500101

1 SubmittersRCV003851493

NM_001386393.1(PANK2):c.1253C>G (p.Thr418Arg)

SNV
Germline

Chr20:3918717

Conflicting classifications of pathogenicity

not specified
Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

CA408120453

rs_137852967

2 SubmittersRCV004526424 RCV005023561

NM_001386393.1(PANK2):c.298+5G>C

SNV
Germline

Chr20:3889733

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary pallidal degeneration

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004720158 RCV005023655

NM_001386393.1(PANK2):c.1358T>C (p.Leu453Pro)

SNV
Germline

Chr20:3923269

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

1 SubmittersRCV004783370

NM_001386393.1(PANK2):c.1169A>T (p.Asn390Ile)

SNV
Germline

Chr20:3917013

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

1 SubmittersRCV005026935

NM_001386393.1(PANK2):c.673A>G (p.Lys225Glu)

SNV
Germline

Chr20:3910598

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

1 SubmittersRCV005196039

NM_001386393.1(PANK2):c.838A>T (p.Ile280Phe)

SNV
Germline

Chr20:3910763

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

1 SubmittersRCV005238471

NM_001386393.1(PANK2):c.442T>C (p.Tyr148His)

SNV
Germline

Chr20:3908069

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

1 SubmittersRCV005411066

NM_001386393.1(PANK2):c.535A>T (p.Thr179Ser)

SNV
Germline

Chr20:3908162

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

1 SubmittersRCV005411077

NM_001386393.1(PANK2):c.1180A>G (p.Ile394Val)

SNV
Germline

Chr20:3917024

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

1 SubmittersRCV005411084

NM_001386393.1(PANK2):c.299-6383A>G

SNV
Germline

Chr20:3901543

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

1 SubmittersRCV005411085

NM_001386393.1(PANK2):c.736G>T (p.Gly246Ter)

SNV
Germline

Chr20:3910661

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

1 SubmittersRCV005411087

NM_001386393.1(PANK2):c.651+633C>T

SNV
Germline

Chr20:3908911

Pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

1 SubmittersRCV005411088

NM_001386393.1(PANK2):c.298+2T>C

SNV
Germline

Chr20:3889730

Likely pathogenic

Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

1 SubmittersRCV005413230