ClinVar for MedGen (Select 6708) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26277901.	NM_001386393.1(PANK2):c.1009G>T (p.Asp337Tyr) GRCh37: Chr20:3893208 GRCh38: Chr20:3912561	PANK2	D11Y, D156Y, D337Y, D447Y	Pigmentary pallidal degeneration	Likely pathogenic	criteria provided, single submitter
Select item 26275072.	NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile) GRCh37: Chr20:3891459 GRCh38: Chr20:3910812	PANK2	K115I, K296I, K406I	Pigmentary pallidal degeneration	Uncertain significance	criteria provided, single submitter
Select item 25856133.	NM_001386393.1(PANK2):c.1248_1256del (p.Asn417_Ile419del) GRCh37: Chr20:3899357-3899365 GRCh38: Chr20:3918710-3918718	PANK2		Pigmentary pallidal degeneration	Uncertain significance	criteria provided, single submitter
Select item 25854854.	NM_001386393.1(PANK2):c.652-2A>G GRCh37: Chr20:3891222 GRCh38: Chr20:3910575	PANK2		Pigmentary pallidal degeneration	Likely pathogenic	criteria provided, single submitter
Select item 25854455.	NM_001386393.1(PANK2):c.1207-11G>A GRCh37: Chr20:3899307 GRCh38: Chr20:3918660	PANK2		Pigmentary pallidal degeneration	Uncertain significance	criteria provided, single submitter
Select item 25854396.	NM_001386393.1(PANK2):c.498_499del (p.Cys166fs) GRCh37: Chr20:3888768-3888769 GRCh38: Chr20:3908121-3908122	PANK2	C166fs, C276fs	Pigmentary pallidal degeneration	Likely pathogenic	criteria provided, single submitter
Select item 25785557.	NM_001386393.1(PANK2):c.1129G>A (p.Glu377Lys) GRCh37: Chr20:3897620 GRCh38: Chr20:3916973	PANK2	E196K, E377K, E487K, E51K	Pigmentary pallidal degeneration, Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	Pathogenic (Sep 8, 2023)	criteria provided, single submitter
Select item 25061088.	NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn) GRCh37: Chr20:3897663 GRCh38: Chr20:3917016	PANK2	I210N, I391N, I501N, I65N	Pigmentary pallidal degeneration	Pathogenic (May 12, 2023)	criteria provided, single submitter
Select item 25028769.	NM_001386393.1(PANK2):c.1189del (p.Met397fs) GRCh37: Chr20:3897679 GRCh38: Chr20:3917032	PANK2	M216fs, M397fs, M507fs, M71fs	Pigmentary pallidal degeneration	Likely pathogenic	criteria provided, single submitter
Select item 250082210.	NM_001386393.1(PANK2):c.325G>A (p.Gly109Ser) GRCh37: Chr20:3888599 GRCh38: Chr20:3907952	PANK2	G109S, G219S	Pigmentary pallidal degeneration	Likely pathogenic (Jan 14, 2022)	criteria provided, single submitter
Select item 244430411.	NM_001386393.1(PANK2):c.1171_1174dup (p.Gly392fs) GRCh37: Chr20:3897661-3897662 GRCh38: Chr20:3917014-3917015	PANK2	G211fs, G392fs, G502fs, G66fs	Pigmentary pallidal degeneration	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244423412.	NM_001386393.1(PANK2):c.632T>G (p.Phe211Cys) GRCh37: Chr20:3888906 GRCh38: Chr20:3908259	PANK2	F211C, F30C, F321C	Pigmentary pallidal degeneration	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 242743713.	NC_000020.10:g.(?_3869748)_(3893301_?)dup GRCh37: Chr20:3869748-3893301	PANK2		Pigmentary pallidal degeneration	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 242743614.	NC_000020.10:g.(?_3891204)_(3893301_?)del GRCh37: Chr20:3891204-3893301	PANK2		Pigmentary pallidal degeneration	Pathogenic (Dec 22, 2021)	criteria provided, single submitter
Select item 242743515.	NC_000020.10:g.(?_3869748)_(3891497_?)del GRCh37: Chr20:3869748-3891497	PANK2		Pigmentary pallidal degeneration	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 242743416.	NC_000020.10:g.(?_3888553)_(3888945_?)del GRCh37: Chr20:3888553-3888945	PANK2		Pigmentary pallidal degeneration	Pathogenic (Nov 19, 2021)	criteria provided, single submitter
Select item 242285517.	NC_000020.10:g.(?_1959939)_(6760201_?)dup GRCh37: Chr20:1959939-6760201	ADAM33, ADISSP, ADRA1D, AP5S1, ATRN, AVP, BMP2, C20orf141, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, DDRGK1, DNAAF9, EBF4, FASTKD5, FERMT1, GFRA4, GNRH2, GPCPD1, HSPA12B, IDH3B, ITPA, LRRN4, LZTS3, MAVS, MCM8, MIR103A2, MIR1292, MRPS26, NOP56, OXT, PANK2, PCED1A, PCNA, PCNA-AS1, PDYN, PRND, PRNP, PROKR2, PTPRA, RASSF2, RNF24, SHLD1, SIGLEC1, SLC23A2, SLC4A11, SMOX, SNRPB, SPEF1, STK35, TGM3, TGM6, TMC2, TMEM230, TMEM239, TRMT6, UBOX5, VPS16, ZNF343		Pigmentary pallidal degeneration, Huntington disease-like 1	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 220230718.	NM_001386393.1(PANK2):c.99C>T (p.Ser33=) GRCh37: Chr20:3870176 GRCh38: Chr20:3889529	LOC130065345, PANK2		Pigmentary pallidal degeneration	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 220146519.	NM_153638.4(PANK2):c.14G>A (p.Gly5Glu) GRCh37: Chr20:3869761 GRCh38: Chr20:3889114	PANK2	G5E	Pigmentary pallidal degeneration	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 219982820.	NM_001386393.1(PANK2):c.1333-16G>T GRCh37: Chr20:3903875 GRCh38: Chr20:3923228	PANK2		Pigmentary pallidal degeneration	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 219947621.	NM_001386393.1(PANK2):c.905+10A>T GRCh37: Chr20:3891487 GRCh38: Chr20:3910840	PANK2		Pigmentary pallidal degeneration	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 219938322.	NM_001386393.1(PANK2):c.-40T>G GRCh37: Chr20:3870038 GRCh38: Chr20:3889391	LOC130065345, PANK2		Pigmentary pallidal degeneration	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 219713423.	NM_001386393.1(PANK2):c.119A>G (p.Gln40Arg) GRCh37: Chr20:3870196 GRCh38: Chr20:3889549	LOC130065345, PANK2	Q150R, Q40R	Pigmentary pallidal degeneration, Inborn genetic diseases	Uncertain significance (Jul 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219420324.	NM_153638.4(PANK2):c.129C>T (p.Pro43=) GRCh37: Chr20:3869876 GRCh38: Chr20:3889229	PANK2		Pigmentary pallidal degeneration	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 219232325.	NM_001386393.1(PANK2):c.1201A>G (p.Asn401Asp) GRCh37: Chr20:3897692 GRCh38: Chr20:3917045	PANK2	N75D, N220D, N401D, N511D	Pigmentary pallidal degeneration	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 218808026.	NM_001386393.1(PANK2):c.1071T>C (p.Ala357=) GRCh37: Chr20:3893270 GRCh38: Chr20:3912623	PANK2		Pigmentary pallidal degeneration	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 218706027.	NM_001386393.1(PANK2):c.141_155dup (p.Pro52_Leu53insArgArgGlnGluPro) GRCh37: Chr20:3870217-3870218 GRCh38: Chr20:3889570-3889571	LOC130065345, PANK2		Pigmentary pallidal degeneration	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 217954928.	NM_153638.4(PANK2):c.38G>A (p.Trp13Ter) GRCh37: Chr20:3869785 GRCh38: Chr20:3889138	PANK2	W13*	Pigmentary pallidal degeneration	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 216691829.	NM_001386393.1(PANK2):c.299-14del GRCh37: Chr20:3888555 GRCh38: Chr20:3907908	PANK2		Pigmentary pallidal degeneration	Benign (Sep 2, 2022)	criteria provided, single submitter
Select item 216469530.	NM_153638.4(PANK2):c.209G>C (p.Gly70Ala) GRCh37: Chr20:3869956 GRCh38: Chr20:3889309	LOC130065345, PANK2	G70A	Pigmentary pallidal degeneration, Inborn genetic diseases	Uncertain significance (Mar 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215845731.	NM_001386393.1(PANK2):c.33G>A (p.Leu11=) GRCh37: Chr20:3870110 GRCh38: Chr20:3889463	PANK2, LOC130065345		Pigmentary pallidal degeneration	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 215781032.	NM_001386393.1(PANK2):c.47G>A (p.Gly16Glu) GRCh37: Chr20:3870124 GRCh38: Chr20:3889477	LOC130065345, PANK2	G126E, G16E	Pigmentary pallidal degeneration	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 215652333.	NM_153638.4(PANK2):c.118C>T (p.Leu40Phe) GRCh37: Chr20:3869865 GRCh38: Chr20:3889218	PANK2	L40F	Pigmentary pallidal degeneration	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 215287234.	NM_153638.4(PANK2):c.30C>T (p.Arg10=) GRCh37: Chr20:3869777 GRCh38: Chr20:3889130	PANK2		Pigmentary pallidal degeneration	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 215012235.	NM_001386393.1(PANK2):c.-29C>G GRCh37: Chr20:3870049 GRCh38: Chr20:3889402	LOC130065345, PANK2	A101G	Pigmentary pallidal degeneration	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 214991436.	NM_153638.4(PANK2):c.66G>A (p.Gly22=) GRCh37: Chr20:3869813 GRCh38: Chr20:3889166	PANK2		Pigmentary pallidal degeneration	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 214960737.	NM_001386393.1(PANK2):c.731T>G (p.Phe244Cys) GRCh37: Chr20:3891303 GRCh38: Chr20:3910656	PANK2	F354C, F244C, F63C	Pigmentary pallidal degeneration	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 214955338.	NM_001386393.1(PANK2):c.-31T>G GRCh37: Chr20:3870047 GRCh38: Chr20:3889400	LOC130065345, PANK2		Pigmentary pallidal degeneration	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 214473839.	NM_001386393.1(PANK2):c.1332+17G>A GRCh37: Chr20:3899460 GRCh38: Chr20:3918813	PANK2		Pigmentary pallidal degeneration	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 214415440.	NM_001386393.1(PANK2):c.108G>A (p.Ser36=) GRCh37: Chr20:3870185 GRCh38: Chr20:3889538	LOC130065345, PANK2		Pigmentary pallidal degeneration	Likely benign (Apr 27, 2022)	criteria provided, single submitter
Select item 214137141.	NM_001386393.1(PANK2):c.-22G>C GRCh37: Chr20:3870056 GRCh38: Chr20:3889409	LOC130065345, PANK2	E103D	Pigmentary pallidal degeneration	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 214111042.	NM_153638.4(PANK2):c.58T>C (p.Ser20Pro) GRCh37: Chr20:3869805 GRCh38: Chr20:3889158	PANK2	S20P	Pigmentary pallidal degeneration	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 214002643.	NM_001386393.1(PANK2):c.695T>C (p.Leu232Ser) GRCh37: Chr20:3891267 GRCh38: Chr20:3910620	PANK2	L232S, L51S, L342S	Pigmentary pallidal degeneration	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 213832644.	NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr) GRCh37: Chr20:3897585 GRCh38: Chr20:3916938	PANK2	M184T, M365T, M39T, M475T	Pigmentary pallidal degeneration	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 213832545.	NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter) GRCh37: Chr20:3891457 GRCh38: Chr20:3910810	PANK2	Y295, Y114, Y405*	Pigmentary pallidal degeneration	Pathogenic (Jun 16, 2022)	criteria provided, single submitter
Select item 213113346.	NM_001386393.1(PANK2):c.1111C>G (p.Arg371Gly) GRCh37: Chr20:3897602 GRCh38: Chr20:3916955	PANK2	R371G, R481G, R45G, R190G	Pigmentary pallidal degeneration	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 213089047.	NM_001386393.1(PANK2):c.652-16T>A GRCh37: Chr20:3891208 GRCh38: Chr20:3910561	PANK2		Pigmentary pallidal degeneration	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 212225548.	NM_001386393.1(PANK2):c.1285G>T (p.Asp429Tyr) GRCh37: Chr20:3899396 GRCh38: Chr20:3918749	PANK2	D429Y, D539Y, D103Y, D248Y	Pigmentary pallidal degeneration	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 209865149.	NM_001386393.1(PANK2):c.1143A>C (p.Arg381Ser) GRCh37: Chr20:3897634 GRCh38: Chr20:3916987	PANK2	R200S, R381S, R55S, R491S	Pigmentary pallidal degeneration	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209787350.	NM_001386393.1(PANK2):c.116A>G (p.Glu39Gly) GRCh37: Chr20:3870193 GRCh38: Chr20:3889546	LOC130065345, PANK2	E39G, E149G	Pigmentary pallidal degeneration	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 208394151.	NM_001386393.1(PANK2):c.651+7A>G GRCh37: Chr20:3888932 GRCh38: Chr20:3908285	PANK2	I330V	Pigmentary pallidal degeneration	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 208212652.	NM_001386393.1(PANK2):c.802G>T (p.Asp268Tyr) GRCh37: Chr20:3891374 GRCh38: Chr20:3910727	PANK2	D378Y, D268Y, D87Y	Pigmentary pallidal degeneration	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 208059953.	NM_001386393.1(PANK2):c.451A>G (p.Thr151Ala) GRCh37: Chr20:3888725 GRCh38: Chr20:3908078	PANK2	T261A, T151A	Pigmentary pallidal degeneration	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 207623654.	NM_001386393.1(PANK2):c.946A>G (p.Thr316Ala) GRCh37: Chr20:3893145 GRCh38: Chr20:3912498	PANK2	T135A, T316A, T426A	Pigmentary pallidal degeneration	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 207564155.	NM_001386393.1(PANK2):c.1333-29_1333-8del GRCh37: Chr20:3903860-3903881 GRCh38: Chr20:3923213-3923234	PANK2		Pigmentary pallidal degeneration	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 207332756.	NM_001386393.1(PANK2):c.-11G>A GRCh37: Chr20:3870067 GRCh38: Chr20:3889420	LOC130065345, PANK2	R107K	Pigmentary pallidal degeneration	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 205430057.	NM_001386393.1(PANK2):c.989G>A (p.Arg330His) GRCh37: Chr20:3893188 GRCh38: Chr20:3912541	PANK2	R330H, R149H, R440H, R4H	Inborn genetic diseases, Pigmentary pallidal degeneration	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205160558.	NM_001386393.1(PANK2):c.783G>A (p.Lys261=) GRCh37: Chr20:3891355 GRCh38: Chr20:3910708	PANK2		Pigmentary pallidal degeneration	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 204734159.	NM_001386393.1(PANK2):c.502_503delinsAC (p.Arg168Thr) GRCh37: Chr20:3888776-3888777 GRCh38: Chr20:3908129-3908130	PANK2	R168T, R278T	Pigmentary pallidal degeneration	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 204299160.	NM_001386393.1(PANK2):c.157C>T (p.Leu53=) GRCh37: Chr20:3870234 GRCh38: Chr20:3889587	LOC130065345, PANK2		Pigmentary pallidal degeneration	Likely benign (Nov 23, 2020)	criteria provided, single submitter
Select item 204248361.	NM_001386393.1(PANK2):c.1380G>A (p.Pro460=) GRCh37: Chr20:3903938 GRCh38: Chr20:3923291	PANK2		Pigmentary pallidal degeneration	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 204087162.	NM_001386393.1(PANK2):c.906-21_906-19del GRCh37: Chr20:3893083-3893085 GRCh38: Chr20:3912436-3912438	PANK2		Pigmentary pallidal degeneration	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 204024563.	NM_153638.4(PANK2):c.280C>A (p.Arg94Ser) GRCh37: Chr20:3870027 GRCh38: Chr20:3889380	LOC130065345, PANK2	R94S	Pigmentary pallidal degeneration	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 203831264.	NM_001386393.1(PANK2):c.776C>G (p.Ser259Cys) GRCh37: Chr20:3891348 GRCh38: Chr20:3910701	PANK2	S369C, S259C, S78C	Pigmentary pallidal degeneration	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 203030365.	NM_001386393.1(PANK2):c.141G>T (p.Gly47=) GRCh37: Chr20:3870218 GRCh38: Chr20:3889571	LOC130065345, PANK2		Pigmentary pallidal degeneration	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 202047266.	NM_001386393.1(PANK2):c.522T>C (p.Phe174=) GRCh37: Chr20:3888796 GRCh38: Chr20:3908149	PANK2		Pigmentary pallidal degeneration	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 201209467.	NM_001386393.1(PANK2):c.1152G>C (p.Leu384Phe) GRCh37: Chr20:3897643 GRCh38: Chr20:3916996	PANK2	L384F, L58F, L494F, L203F	Pigmentary pallidal degeneration	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 201070368.	NM_001386393.1(PANK2):c.636G>A (p.Glu212=) GRCh37: Chr20:3888910 GRCh38: Chr20:3908263	PANK2		Pigmentary pallidal degeneration	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 200894869.	NM_001386393.1(PANK2):c.1097T>A (p.Met366Lys) GRCh37: Chr20:3897588 GRCh38: Chr20:3916941	PANK2	M476K, M40K, M366K, M185K	Pigmentary pallidal degeneration	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 200812870.	NM_001386393.1(PANK2):c.710T>C (p.Leu237Ser) GRCh37: Chr20:3891282 GRCh38: Chr20:3910635	PANK2	L237S, L56S, L347S	Pigmentary pallidal degeneration	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 200545271.	NM_001386393.1(PANK2):c.73C>T (p.Arg25Cys) GRCh37: Chr20:3870150 GRCh38: Chr20:3889503	LOC130065345, PANK2	R135C, R25C	Pigmentary pallidal degeneration	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 200108172.	NM_001386393.1(PANK2):c.-3A>C GRCh37: Chr20:3870075 GRCh38: Chr20:3889428	LOC130065345, PANK2	T110P	Pigmentary pallidal degeneration	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 199820273.	NM_001386393.1(PANK2):c.425T>A (p.Leu142Gln) GRCh37: Chr20:3888699 GRCh38: Chr20:3908052	PANK2	L142Q, L252Q	Pigmentary pallidal degeneration	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 199811374.	NM_001386393.1(PANK2):c.1100G>A (p.Ser367Asn) GRCh37: Chr20:3897591 GRCh38: Chr20:3916944	PANK2	S186N, S41N, S477N, S367N	Pigmentary pallidal degeneration	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 198819675.	NM_153638.4(PANK2):c.219A>G (p.Pro73=) GRCh37: Chr20:3869966 GRCh38: Chr20:3889319	LOC130065345, PANK2		Pigmentary pallidal degeneration	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 198679876.	NM_001386393.1(PANK2):c.1206+19_1206+22del GRCh37: Chr20:3897713-3897716 GRCh38: Chr20:3917066-3917069	PANK2		Pigmentary pallidal degeneration	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 198495177.	NM_001386393.1(PANK2):c.838A>G (p.Ile280Val) GRCh37: Chr20:3891410 GRCh38: Chr20:3910763	PANK2	I99V, I280V, I390V	Pigmentary pallidal degeneration	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 198078278.	NM_001386393.1(PANK2):c.1368G>A (p.Leu456=) GRCh37: Chr20:3903926 GRCh38: Chr20:3923279	PANK2		Pigmentary pallidal degeneration	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 196877479.	NM_001386393.1(PANK2):c.1083-5C>T GRCh37: Chr20:3897569 GRCh38: Chr20:3916922	PANK2		Pigmentary pallidal degeneration	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 196867980.	NM_153638.4(PANK2):c.99G>A (p.Arg33=) GRCh37: Chr20:3869846 GRCh38: Chr20:3889199	PANK2		Pigmentary pallidal degeneration	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 196763981.	NM_001386393.1(PANK2):c.236C>T (p.Ser79Phe) GRCh37: Chr20:3870313 GRCh38: Chr20:3889666	LOC130065345, PANK2	S79F, S189F	Pigmentary pallidal degeneration	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 196739782.	NM_001386393.1(PANK2):c.503G>A (p.Arg168His) GRCh37: Chr20:3888777 GRCh38: Chr20:3908130	PANK2	R278H, R168H	Pigmentary pallidal degeneration	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 196253483.	NM_001386393.1(PANK2):c.298+3_298+6del GRCh37: Chr20:3870376-3870379 GRCh38: Chr20:3889729-3889732	LOC130065345, PANK2		Pigmentary pallidal degeneration	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 196135884.	NM_001386393.1(PANK2):c.422A>G (p.Tyr141Cys) GRCh37: Chr20:3888696 GRCh38: Chr20:3908049	PANK2	Y141C, Y251C	Pigmentary pallidal degeneration	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 195237385.	NM_001386393.1(PANK2):c.252C>T (p.Thr84=) GRCh37: Chr20:3870329 GRCh38: Chr20:3889682	LOC130065345, PANK2		Pigmentary pallidal degeneration	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 195221686.	NM_001386393.1(PANK2):c.394G>C (p.Val132Leu) GRCh37: Chr20:3888668 GRCh38: Chr20:3908021	PANK2	V242L, V132L	Pigmentary pallidal degeneration	Uncertain significance (Mar 7, 2022)	criteria provided, single submitter
Select item 194651987.	NM_001386393.1(PANK2):c.652A>G (p.Ile218Val) GRCh37: Chr20:3891224 GRCh38: Chr20:3910577	PANK2	I218V, I328V, I37V	Pigmentary pallidal degeneration	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 194118388.	NM_153638.4(PANK2):c.117C>A (p.Thr39=) GRCh37: Chr20:3869864 GRCh38: Chr20:3889217	PANK2		Pigmentary pallidal degeneration	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 193736289.	NM_001386393.1(PANK2):c.298+18C>T GRCh37: Chr20:3870393 GRCh38: Chr20:3889746	LOC130065345, PANK2		Pigmentary pallidal degeneration	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 193398190.	NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter) GRCh37: Chr20:3903928 GRCh38: Chr20:3923281	PANK2	L567, L131, L276, L457	Pigmentary pallidal degeneration	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 193232891.	NM_001386393.1(PANK2):c.-16G>A GRCh37: Chr20:3870062 GRCh38: Chr20:3889415	LOC130065345, PANK2		Pigmentary pallidal degeneration	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 193163192.	NM_001386393.1(PANK2):c.1275A>G (p.Ala425=) GRCh37: Chr20:3899386 GRCh38: Chr20:3918739	PANK2		Pigmentary pallidal degeneration	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 192585993.	NM_001386393.1(PANK2):c.676C>T (p.Leu226=) GRCh37: Chr20:3891248 GRCh38: Chr20:3910601	PANK2		Pigmentary pallidal degeneration	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 191451394.	NM_153638.4(PANK2):c.172C>T (p.Pro58Ser) GRCh37: Chr20:3869919 GRCh38: Chr20:3889272	LOC130065345, PANK2	P58S	Pigmentary pallidal degeneration	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 190215895.	NM_001386393.1(PANK2):c.1195G>A (p.Ala399Thr) GRCh37: Chr20:3897686 GRCh38: Chr20:3917039	PANK2	A218T, A399T, A73T, A509T	Pigmentary pallidal degeneration	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 187852996.	NM_001386393.1(PANK2):c.1188A>T (p.Arg396Ser) GRCh37: Chr20:3897679 GRCh38: Chr20:3917032	PANK2	R215S, R396S, R506S, R70S	Pigmentary pallidal degeneration	Uncertain significance	criteria provided, single submitter
Select item 187851897.	NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs) GRCh37: Chr20:3870292-3870293 GRCh38: Chr20:3889645-3889646	LOC130065345, PANK2	R183fs, R73fs	Pigmentary pallidal degeneration, not provided	Pathogenic (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 181030098.	NM_001386393.1(PANK2):c.713A>T (p.Tyr238Phe) GRCh37: Chr20:3891285 GRCh38: Chr20:3910638	PANK2	Y238F, Y348F, Y57F	Pigmentary pallidal degeneration	not provided	no assertion provided
Select item 180487699.	NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr) GRCh37: Chr20:3891357 GRCh38: Chr20:3910710	PANK2	C262Y, C372Y, C81Y	Pigmentary pallidal degeneration	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 1719190100.	NM_001386393.1(PANK2):c.317T>A (p.Leu106Gln) GRCh37: Chr20:3888591 GRCh38: Chr20:3907944	PANK2	L106Q, L216Q	Pigmentary pallidal degeneration	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter

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