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 25785551.	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 25061082.	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 25028763.	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 25008224.	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 24443045.	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 24442346.	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 24274377.	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 24274368.	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 24274359.	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 242743410.	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 242285511.	NC_000020.10:g.(?_1959939)_(6760201_?)dup GRCh37: Chr20:1959939-6760201	PROKR2, C20orf141, PCNA, FASTKD5, TRMT6, DNAAF9, PCED1A, PANK2, RASSF2, PRND, MIR1292, MCM8, EBF4, TMC2, CENPB, OXT, CDS2, SLC4A11, ITPA, SHLD1, SLC23A2, CHGB, PCNA-AS1, ADRA1D, DDRGK1, PDYN, UBOX5, TGM6, SNRPB, CRLS1, FERMT1, MRPS26, GPCPD1, SPEF1, TMEM239, BMP2, LRRN4, LZTS3, MIR103A2, PRNP, MAVS, AP5S1, NOP56, HSPA12B, RNF24, STK35, ZNF343, VPS16, TGM3, AVP, PTPRA, SIGLEC1, ATRN, CDC25B, IDH3B, GNRH2, SMOX, CPXM1, GFRA4, TMEM230, ADAM33, ADISSP		Huntington disease-like 1, Pigmentary pallidal degeneration	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 220230712.	NM_001386393.1(PANK2):c.99C>T (p.Ser33=) GRCh37: Chr20:3870176 GRCh38: Chr20:3889529	PANK2		Pigmentary pallidal degeneration	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 220146513.	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 219982814.	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 219947615.	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 219938316.	NM_001386393.1(PANK2):c.-40T>G GRCh37: Chr20:3870038 GRCh38: Chr20:3889391	PANK2		Pigmentary pallidal degeneration	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 219713417.	NM_001386393.1(PANK2):c.119A>G (p.Gln40Arg) GRCh37: Chr20:3870196 GRCh38: Chr20:3889549	PANK2	Q150R, Q40R	Inborn genetic diseases, Pigmentary pallidal degeneration	Uncertain significance (Jul 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219420318.	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 219232319.	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 218808020.	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 218706021.	NM_001386393.1(PANK2):c.141_155dup (p.Pro52_Leu53insArgArgGlnGluPro) GRCh37: Chr20:3870217-3870218 GRCh38: Chr20:3889570-3889571	PANK2		Pigmentary pallidal degeneration	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 217954922.	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 216691823.	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 216469524.	NM_153638.4(PANK2):c.209G>C (p.Gly70Ala) GRCh37: Chr20:3869956 GRCh38: Chr20:3889309	PANK2	G70A	Pigmentary pallidal degeneration, Inborn genetic diseases	Uncertain significance (Mar 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215845725.	NM_001386393.1(PANK2):c.33G>A (p.Leu11=) GRCh37: Chr20:3870110 GRCh38: Chr20:3889463	PANK2		Pigmentary pallidal degeneration	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 215781026.	NM_001386393.1(PANK2):c.47G>A (p.Gly16Glu) GRCh37: Chr20:3870124 GRCh38: Chr20:3889477	PANK2	G126E, G16E	Pigmentary pallidal degeneration	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 215652327.	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 215287228.	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 215012229.	NM_001386393.1(PANK2):c.-29C>G GRCh37: Chr20:3870049 GRCh38: Chr20:3889402	PANK2	A101G	Pigmentary pallidal degeneration	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 214991430.	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 214960731.	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 214955332.	NM_001386393.1(PANK2):c.-31T>G GRCh37: Chr20:3870047 GRCh38: Chr20:3889400	PANK2		Pigmentary pallidal degeneration	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 214473833.	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 214415434.	NM_001386393.1(PANK2):c.108G>A (p.Ser36=) GRCh37: Chr20:3870185 GRCh38: Chr20:3889538	PANK2		Pigmentary pallidal degeneration	Likely benign (Apr 27, 2022)	criteria provided, single submitter
Select item 214137135.	NM_001386393.1(PANK2):c.-22G>C GRCh37: Chr20:3870056 GRCh38: Chr20:3889409	PANK2	E103D	Pigmentary pallidal degeneration	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 214111036.	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 214002637.	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 213832638.	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 213832539.	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 213113340.	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 213089041.	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 212225542.	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 209865143.	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 209787344.	NM_001386393.1(PANK2):c.116A>G (p.Glu39Gly) GRCh37: Chr20:3870193 GRCh38: Chr20:3889546	PANK2	E39G, E149G	Pigmentary pallidal degeneration	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 208394145.	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 208212646.	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 208059947.	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 207623648.	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 207564149.	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 207332750.	NM_001386393.1(PANK2):c.-11G>A GRCh37: Chr20:3870067 GRCh38: Chr20:3889420	PANK2	R107K	Pigmentary pallidal degeneration	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 205430051.	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 205160552.	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 204734153.	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 204299154.	NM_001386393.1(PANK2):c.157C>T (p.Leu53=) GRCh37: Chr20:3870234 GRCh38: Chr20:3889587	PANK2		Pigmentary pallidal degeneration	Likely benign (Nov 23, 2020)	criteria provided, single submitter
Select item 204248355.	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 204087156.	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 204024557.	NM_153638.4(PANK2):c.280C>A (p.Arg94Ser) GRCh37: Chr20:3870027 GRCh38: Chr20:3889380	PANK2	R94S	Pigmentary pallidal degeneration	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 203831258.	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 203030359.	NM_001386393.1(PANK2):c.141G>T (p.Gly47=) GRCh37: Chr20:3870218 GRCh38: Chr20:3889571	PANK2		Pigmentary pallidal degeneration	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 202047260.	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 201209461.	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 201070362.	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 200894863.	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 200812864.	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 200545265.	NM_001386393.1(PANK2):c.73C>T (p.Arg25Cys) GRCh37: Chr20:3870150 GRCh38: Chr20:3889503	PANK2	R135C, R25C	Pigmentary pallidal degeneration	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 200108166.	NM_001386393.1(PANK2):c.-3A>C GRCh37: Chr20:3870075 GRCh38: Chr20:3889428	PANK2	T110P	Pigmentary pallidal degeneration	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 199820267.	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 199811368.	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 198819669.	NM_153638.4(PANK2):c.219A>G (p.Pro73=) GRCh37: Chr20:3869966 GRCh38: Chr20:3889319	PANK2		Pigmentary pallidal degeneration	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 198679870.	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 198495171.	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 198078272.	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 196877473.	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 196867974.	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 196763975.	NM_001386393.1(PANK2):c.236C>T (p.Ser79Phe) GRCh37: Chr20:3870313 GRCh38: Chr20:3889666	PANK2	S79F, S189F	Pigmentary pallidal degeneration	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 196739776.	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 196253477.	NM_001386393.1(PANK2):c.298+3_298+6del GRCh37: Chr20:3870376-3870379 GRCh38: Chr20:3889729-3889732	PANK2		Pigmentary pallidal degeneration	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 196135878.	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 195237379.	NM_001386393.1(PANK2):c.252C>T (p.Thr84=) GRCh37: Chr20:3870329 GRCh38: Chr20:3889682	PANK2		Pigmentary pallidal degeneration	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 195221680.	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 194651981.	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 194118382.	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 193736283.	NM_001386393.1(PANK2):c.298+18C>T GRCh37: Chr20:3870393 GRCh38: Chr20:3889746	PANK2		Pigmentary pallidal degeneration	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 193398184.	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 193232885.	NM_001386393.1(PANK2):c.-16G>A GRCh37: Chr20:3870062 GRCh38: Chr20:3889415	PANK2		Pigmentary pallidal degeneration	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 193163186.	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 192585987.	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 191451388.	NM_153638.4(PANK2):c.172C>T (p.Pro58Ser) GRCh37: Chr20:3869919 GRCh38: Chr20:3889272	PANK2	P58S	Pigmentary pallidal degeneration	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 190215889.	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 187852990.	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 187851891.	NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs) GRCh37: Chr20:3870292-3870293 GRCh38: Chr20:3889645-3889646	PANK2	R183fs, R73fs	not provided, Pigmentary pallidal degeneration	Pathogenic (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 181030092.	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 180487693.	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 171919094.	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
Select item 170182995.	NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg) GRCh37: Chr20:3888699 GRCh38: Chr20:3908052	PANK2	L142R, L252R	Pigmentary pallidal degeneration	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169602596.	NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter) GRCh37: Chr20:3891236 GRCh38: Chr20:3910589	PANK2	Q222, Q332, Q41*	Pigmentary pallidal degeneration	Pathogenic (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169057697.	NM_001386393.1(PANK2):c.40A>G (p.Met14Val) GRCh37: Chr20:3870117 GRCh38: Chr20:3889470	PANK2	M124V, M14V	Pigmentary pallidal degeneration, See cases	Uncertain significance (Mar 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166809498.	NM_001386393.1(PANK2):c.291G>A (p.Lys97=) GRCh37: Chr20:3870368 GRCh38: Chr20:3889721	PANK2		Pigmentary pallidal degeneration, Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration, Pigmentary pallidal degeneration	Likely benign (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166660499.	NM_001386393.1(PANK2):c.600C>G (p.Val200=) GRCh37: Chr20:3888874 GRCh38: Chr20:3908227	PANK2		Pigmentary pallidal degeneration	Likely benign (Aug 25, 2021)	criteria provided, single submitter
Select item 1664684100.	NM_001386393.1(PANK2):c.905+18C>T GRCh37: Chr20:3891495 GRCh38: Chr20:3910848	PANK2		Pigmentary pallidal degeneration	Likely benign (Dec 22, 2020)	criteria provided, single submitter

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