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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Basal Ganglia Diseases (D001480)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Movement Disorders (D009069)
Parent Node: Neuroaxonal Dystrophies (D019150)
..Starting node ..Pantothenate Kinase-Associated Neurodegeneration (D006211)
Child Nodes:
........Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration (C564603)
Sister Nodes:
..Hunter Carpenter Macdonald syndrome (C536071)
..Karak Syndrome (C548029)
..NBIA2B (C565699)
..Neuroaxonal dystrophy renal tubular acidosis (C537386)
..Neurodegeneration Due To Cerebral Folate Transport Deficiency (C567791)
..Neurodegeneration with brain iron accumulation (NBIA) (C538421) 2
..Neuroferritinopathy (C548080)
..Osteopetrosis and infantile neuroaxonal dystrophy (C536055)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Schindler Disease, Type I (C536631)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9463

Name:

Pantothenate Kinase-Associated Neurodegeneration

Definition:

A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)

Alternative IDs:

DO:DOID:3981|OMIM:234200

ParentIDs:

MESH:D001480|MESH:D009069|MESH:D019150|MESH:D020271

TreeNumbers:

C10.228.140.079.800 |C10.228.140.744.320 |C10.228.662.575 |C10.574.500.700 |C16.320.400.650

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D006211
MeSH: D006211
OMIM: 234200;
MSeqDR :
Genes: PANK2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007256	Abnormal pyramidal signs
3	HP:0001760	Abnormality of the foot
4	HP:0001927	Acanthocytosis
5	HP:0002304	Akinesia
6	HP:0001251	Ataxia
7	HP:0000643	Blepharospasm
8	HP:0002067	Bradykinesia
9	HP:0007313	Cerebral degeneration
10	HP:0001266	Choreoathetosis
11	HP:0003199	Decreased muscle mass
12	HP:0000726	Dementia NAMDC: Dementia
13	HP:0000716	Depressivity NAMDC: Depression
14	HP:0001260	Dysarthria NAMDC: Dysarthria
15	HP:0002015	Dysphagia NAMDC: Dysphagia
16	HP:0001618	Dysphonia
17	HP:0002454	Eye of the tiger anomaly of globus pallidus
18	HP:0000658	Eyelid apraxia
19	HP:0000273	Facial grimacing
20	HP:0008872	Feeding difficulties in infancy
21	HP:0001288	Gait disturbance
22	HP:0002283	Global brain atrophy
23	HP:0001263	Global developmental delay NAMDC: Mental retardation
24	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
25	HP:0000752	Hyperactivity
26	HP:0000953	Hyperpigmentation of the skin
27	HP:0100034	Motor tics
28	HP:0003198	Myopathy NAMDC: Myopathy
29	HP:0002180	Neurodegeneration
30	HP:0008770	Obsessive-compulsive trait
31	HP:0000648	Optic atrophy
32	HP:0002310	Orofacial dyskinesia
33	HP:0001300	Parkinsonism NAMDC: Parkinsonism
34	HP:0000580	Pigmentary retinopathy NAMDC: Pigmentary retinopathy
35	HP:0003678	Rapidly progressive
36	HP:0000546	Retinal degeneration
37	HP:0002063	Rigidity
38	HP:0001257	Spasticity NAMDC: Spasticity
39	HP:0001337	Tremor
40	HP:0000020	Urinary incontinence

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000020.10:g.(?_1959939)_(6760201_?)dup	-1	covers 62 genes, none of which curated to show dos	Uncertain significance	-1	RCV003110989\|RCV003122285;	N	MONDO:MONDO:0011299,MedGen:C1864112,OMIM:603218, Orphanet:157941\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	1959939	6760201		-
NC_000020.11:g.3863511_3918336del	-1	MAVS;MIR103A2;PANK2	Pathogenic	-1	RCV001250201;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3844158	3898983	-1	-
NC_000020.11:g.(?_3889081)_(3912654_?)del	80025	PANK2	Pathogenic	-1	RCV000631207;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869728	3893301		-	C0018523 234200 Pigmentary pallidal degeneration;
NM_153638.4(PANK2):c.-11G>A	80025	PANK2	Benign/Likely benign	rs71647826	RCV000365190\|RCV000365814\|RCV000675586;	N	MedGen:CN169374\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3869737	3869737	20:g.3869737G>A	ClinGen:CA9750451	CN517202 not provided;
NC_000020.10:g.(?_3869748)_(3891497_?)del	80025	PANK2	Pathogenic	-1	RCV003113764;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869748	3891497		-
NC_000020.10:g.(?_3869748)_(3893301_?)dup	80025	PANK2	Uncertain significance	-1	RCV003113766;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869748	3893301		-
NM_153638.4(PANK2):c.9G>T (p.Arg3Ser)	80025	PANK2	Uncertain significance	rs1211425299	RCV000687659\|RCV002544786;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MeSH:D030342,MedGen:C0950123	20	3869756	3869756	NC_000020.10:g.3869756G>T	-	C0018523 234200 Pigmentary pallidal degeneration;
NM_153638.4(PANK2):c.12C>T (p.Leu4_Gly5=)	80025	PANK2	Conflicting interpretations of pathogenicity	rs774784800	RCV000278980\|RCV001454628;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869759	3869759	20:g.3869759C>T	ClinGen:CA9750454	CN169374 not specified;
NM_153638.4(PANK2):c.14G>A (p.Gly5Glu)	80025	PANK2	Uncertain significance	-1	RCV002629673;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869761	3869761	NC_000020.10:g.3869761G>A	-
NM_153638.4(PANK2):c.30C>T (p.Arg10_Val11=)	80025	PANK2	Likely benign	-1	RCV003085376;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869777	3869777	NC_000020.10:g.3869777C>T	-
NM_153638.4(PANK2):c.31G>A (p.Val11Ile)	80025	PANK2	Uncertain significance	rs886044063	RCV000345784\|RCV001859692;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869778	3869778	20:g.3869778G>A	ClinGen:CA10606301	CN169374 not specified;
NM_153638.4(PANK2):c.34C>T (p.His12Tyr)	80025	PANK2	Likely benign	rs374286033	RCV001203887;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869781	3869781	20:g.3869781C>T	-
NM_153638.4(PANK2):c.42_67del (p.Ala15fs)	80025	PANK2	Conflicting interpretations of pathogenicity	rs760822872	RCV000479319\|RCV001731712;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869784	3869809	NC_000020.10:g.3869789_3869814del	ClinGen:CA9750459
NM_153638.4(PANK2):c.37T>C (p.Trp13Arg)	80025	PANK2	Uncertain significance	rs971003044	RCV000800323;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869784	3869784	20:g.3869784T>C	-
NM_153638.4(PANK2):c.38G>A (p.Trp13Ter)	80025	PANK2	Uncertain significance	-1	RCV002599153;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869785	3869785	NC_000020.10:g.3869785G>A	-
NM_153638.4(PANK2):c.48G>A (p.Pro16_Pro17=)	80025	PANK2	Likely benign	-1	RCV002096888;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869795	3869795	3869795	-
NM_153638.4(PANK2):c.54A>G (p.Ser18_Leu19=)	80025	PANK2	Conflicting interpretations of pathogenicity	rs886056650	RCV000383282;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869801	3869801	20:g.3869801A>G	ClinGen:CA10643832	C0018523 234200 Pigmentary pallidal degeneration;
NM_153638.4(PANK2):c.55C>T (p.Leu19Phe)	80025	PANK2	Uncertain significance	-1	RCV001927977;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869802	3869802	3869802	-
NM_153638.4(PANK2):c.58T>C (p.Ser20Pro)	80025	PANK2	Uncertain significance	-1	RCV003056792;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869805	3869805	NC_000020.10:g.3869805T>C	-
NM_153638.4(PANK2):c.66G>T (p.Gly22_Leu23=)	80025	PANK2	Likely benign	-1	RCV001485158;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869813	3869813	3869813	-
NM_153638.4(PANK2):c.66G>A (p.Gly22_Leu23=)	80025	PANK2	Likely benign	-1	RCV003083289;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869813	3869813	NC_000020.10:g.3869813G>A	-
NM_153638.4(PANK2):c.79C>A (p.Leu27Ile)	80025	PANK2	Uncertain significance	-1	RCV002038366;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869826	3869826	3869826	-
NM_153638.4(PANK2):c.95C>T (p.Thr32Ile)	80025	PANK2	Uncertain significance	-1	RCV001870953\|RCV002551084;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MeSH:D030342,MedGen:C0950123	20	3869842	3869842	3869842	-
NM_153638.4(PANK2):c.96C>T (p.Thr32_Arg33=)	80025	PANK2	Conflicting interpretations of pathogenicity	rs398124549	RCV000082680\|RCV002514447;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869843	3869843	20:g.3869843C>T	ClinGen:CA224202	CN169374 not specified;
NM_153638.4(PANK2):c.99G>A (p.Arg33_Ile34=)	80025	PANK2	Likely benign	-1	RCV002711973;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869846	3869846	NC_000020.10:g.3869846G>A	-
NM_153638.4(PANK2):c.104C>T (p.Pro35Leu)	80025	PANK2	Uncertain significance	rs769505139	RCV001138861;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869851	3869851	20:g.3869851C>T	-
NM_153638.4(PANK2):c.113C>A (p.Thr38Asn)	80025	PANK2	Uncertain significance	-1	RCV001962311;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869860	3869860	3869860	-
NM_153638.4(PANK2):c.114C>T (p.Thr38_Thr39=)	80025	PANK2	Likely benign	-1	RCV002108478;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869861	3869861	3869861	-
NM_153638.4(PANK2):c.117C>A (p.Thr39_Leu40=)	80025	PANK2	Likely benign	-1	RCV002643010;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869864	3869864	NC_000020.10:g.3869864C>A	-
NM_153638.4(PANK2):c.118C>T (p.Leu40Phe)	80025	PANK2	Uncertain significance	-1	RCV003075506;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869865	3869865	NC_000020.10:g.3869865C>T	-
NM_153638.4(PANK2):c.126del (p.Arg44fs)	80025	PANK2	Uncertain significance	rs1600474748	RCV000796539;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869873	3869873	20:g.3869873_3869873del	-
NM_153638.4(PANK2):c.129C>T (p.Pro43_Arg44=)	80025	PANK2	Likely benign	-1	RCV002647355;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869876	3869876	NC_000020.10:g.3869876C>T	-
NM_153638.4(PANK2):c.131G>T (p.Arg44Leu)	80025	PANK2	Uncertain significance	rs200253730	RCV000371598\|RCV001859667;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869878	3869878	20:g.3869878G>T	ClinGen:CA9750494	CN169374 not specified;
NM_153638.4(PANK2):c.137A>T (p.Asp46Val)	80025	PANK2	Benign/Likely benign	rs148036492	RCV000488345\|RCV001081909\|RCV002282169;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN169374	20	3869884	3869884	20:g.3869884A>T	ClinGen:CA9750496	CN517202 not provided;
NM_153638.4(PANK2):c.159C>T (p.Gly53_Thr54=)	80025	PANK2	Conflicting interpretations of pathogenicity	rs1485088384	RCV000997738\|RCV001858861;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869906	3869906	20:g.3869906C>T	-
NM_153638.4(PANK2):c.160A>G (p.Thr54Ala)	80025	PANK2	Uncertain significance	-1	RCV002050642;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869907	3869907	3869907	-
NM_153638.4(PANK2):c.172C>T (p.Pro58Ser)	80025	PANK2	Uncertain significance	-1	RCV002597612;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869919	3869919	NC_000020.10:g.3869919C>T	-
NM_153638.4(PANK2):c.187C>T (p.Pro63Ser)	80025	PANK2	Uncertain significance	-1	RCV001911636;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869934	3869934	3869934	-
NM_153638.4(PANK2):c.200A>C (p.Glu67Ala)	80025	PANK2	Uncertain significance	-1	RCV002039959;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869947	3869947	3869947	-
NM_153638.4(PANK2):c.209G>C (p.Gly70Ala)	80025	PANK2	Uncertain significance	-1	RCV003082235;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869956	3869956	NC_000020.10:g.3869956G>C	-
NM_153638.4(PANK2):c.219A>G (p.Pro73_Ala74=)	80025	PANK2	Likely benign	-1	RCV002790324;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869966	3869966	NC_000020.10:g.3869966A>G	-
NM_153638.4(PANK2):c.239C>T (p.Pro80Leu)	80025	PANK2	Uncertain significance	-1	RCV001925254;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869986	3869986	3869986	-
NM_153638.4(PANK2):c.245G>A (p.Arg82His)	80025	PANK2	Uncertain significance	-1	RCV001974516;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3869992	3869992	3869992	-
NM_153638.4(PANK2):c.272C>T (p.Pro91Leu)	80025	PANK2	Uncertain significance	rs757651957	RCV000293560;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870019	3870019	20:g.3870019C>T	ClinGen:CA10652502	C0018523 234200 Pigmentary pallidal degeneration;
NM_153638.4(PANK2):c.272C>G (p.Pro91Arg)	80025	PANK2	Uncertain significance	rs757651957	RCV001301748;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870019	3870019	3870019	-
NM_153638.4(PANK2):c.276G>A (p.Arg92_Ala93=)	80025	PANK2	Benign/Likely benign	rs142832849	RCV000513379\|RCV000517643\|RCV001085459;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870023	3870023	20:g.3870023G>A	ClinGen:CA9750520	CN517202 not provided;
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)	80025	PANK2	Conflicting interpretations of pathogenicity	rs199680057	RCV000359501\|RCV001141449;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870027	3870027	20:g.3870027C>G	ClinGen:CA9750523	CN169374 not specified;
NM_153638.4(PANK2):c.280C>A (p.Arg94Ser)	80025	PANK2	Uncertain significance	-1	RCV002886329;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870027	3870027	NC_000020.10:g.3870027C>A	-
NM_153638.4(PANK2):c.281G>C (p.Arg94Pro)	80025	PANK2	Benign/Likely benign	rs71647827	RCV000348430\|RCV000712503;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3870028	3870028	20:g.3870028G>C	ClinGen:CA9750525,UniProtKB:Q9BZ23#VAR_054484	C0018523 234200 Pigmentary pallidal degeneration;
NM_153638.4(PANK2):c.283C>A (p.Leu95Ile)	80025	PANK2	Uncertain significance	rs558404718	RCV001141450\|RCV001310446;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3870030	3870030	20:g.3870030C>A	-
NM_153638.4(PANK2):c.283C>T (p.Leu95Phe)	80025	PANK2	Uncertain significance	rs558404718	RCV001316830\|RCV001573141;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3870030	3870030	3870030	-
NM_153638.4(PANK2):c.285C>T (p.Leu95_Cys96=)	80025	PANK2	Likely benign	-1	RCV002107613;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870032	3870032	3870032	-
NM_001386393.1(PANK2):c.-40T>C	80025	PANK2	Likely benign	rs555683860	RCV000981545;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870038	3870038	20:g.3870038T>C	-
NM_001386393.1(PANK2):c.-40T>G	80025	PANK2	Likely benign	-1	RCV002624860;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870038	3870038	NC_000020.10:g.3870038T>G	-
NM_001386393.1(PANK2):c.-32C>T	80025	PANK2	Uncertain significance	-1	RCV001954610;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870046	3870046	3870046	-
NM_001386393.1(PANK2):c.-31T>G	80025	PANK2	Likely benign	-1	RCV003065539;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870047	3870047	NC_000020.10:g.3870047T>G	-
NM_001386393.1(PANK2):c.-29C>T	80025	PANK2	Uncertain significance	rs573948434	RCV001141451;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870049	3870049	20:g.3870049C>T	-
NM_001386393.1(PANK2):c.-29C>G	80025	PANK2	Uncertain significance	-1	RCV003067411;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870049	3870049	NC_000020.10:g.3870049C>G	-
NM_001386393.1(PANK2):c.-28C>T	80025	PANK2	Conflicting interpretations of pathogenicity	rs544239478	RCV001141452;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870050	3870050	20:g.3870050C>T	-
NM_001386393.1(PANK2):c.-22G>C	80025	PANK2	Uncertain significance	-1	RCV003060350;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870056	3870056	NC_000020.10:g.3870056G>C	-
NM_001386393.1(PANK2):c.-21G>T	80025	PANK2	Pathogenic/Likely pathogenic	rs780551883	RCV000357905\|RCV002469097;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870057	3870057	20:g.3870057G>T	ClinGen:CA10604867	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.-21G>A	80025	PANK2	Uncertain significance	-1	RCV001911311;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870057	3870057	3870057	-
NM_001386393.1(PANK2):c.-20A>C	80025	PANK2	Uncertain significance	-1	RCV001922807;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870058	3870058	3870058	-
NM_001386393.1(PANK2):c.-16G>A	80025	PANK2	Likely benign	-1	RCV002622508;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870062	3870062	NC_000020.10:g.3870062G>A	-
NM_001386393.1(PANK2):c.-11G>A	80025	PANK2	Uncertain significance	-1	RCV002971798;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870067	3870067	NC_000020.10:g.3870067G>A	-
NM_001386393.1(PANK2):c.-10G>A	80025	PANK2	Uncertain significance	rs771710781	RCV001141453;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870068	3870068	20:g.3870068G>A	-
NM_001386393.1(PANK2):c.-5C>T	80025	PANK2	Uncertain significance	rs746763863	RCV000678821\|RCV001861861;	N	MedGen:CN169374\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870073	3870073	20:g.3870073C>T	-	CN169374 not specified;
NM_001386393.1(PANK2):c.-3A>C	80025	PANK2	Uncertain significance	-1	RCV002810892;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870075	3870075	NC_000020.10:g.3870075A>C	-
NM_001386393.1(PANK2):c.2T>A	80025	PANK2	Benign/Likely benign	rs71647828	RCV000173580\|RCV000401983\|RCV000675587;	N	MedGen:CN169374\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3870079	3870079	20:g.3870079T>A	ClinGen:CA200628,UniProtKB:Q9BZ23#VAR_015152	CN517202 not provided;
NM_001386393.1(PANK2):c.5G>A (p.Gly2Glu)	80025	PANK2	Uncertain significance	-1	RCV001653001\|RCV001903934;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870082	3870082	3870082	-
NM_001386393.1(PANK2):c.7G>A (p.Gly3Ser)	80025	PANK2	Uncertain significance	-1	RCV001941151;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870084	3870084	3870084	-
NM_001386393.1(PANK2):c.8G>T (p.Gly3Val)	80025	PANK2	Uncertain significance	rs1268207892	RCV001317637;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870085	3870085	3870085	-
NM_001386393.1(PANK2):c.11T>C (p.Leu4Ser)	80025	PANK2	Uncertain significance	rs2090073827	RCV001143294;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870088	3870088	20:g.3870088T>C	-
NM_001386393.1(PANK2):c.17G>C (p.Gly6Ala)	80025	PANK2	Uncertain significance	-1	RCV001876362\|RCV002547915;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MeSH:D030342,MedGen:C0950123	20	3870094	3870094	3870094	-
NM_001386393.1(PANK2):c.18G>A (p.Gly6=)	80025	PANK2	Conflicting interpretations of pathogenicity	rs750766653	RCV000893261;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870095	3870095	20:g.3870095G>A	-
NM_001386393.1(PANK2):c.20G>A (p.Arg7Gln)	80025	PANK2	Uncertain significance	rs911560228	RCV001319285;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870097	3870097	3870097	-
NM_001386393.1(PANK2):c.21_22delinsTT (p.Gln8Ter)	80025	PANK2	Uncertain significance	-1	RCV001988385;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870098	3870099	3870098	-
NM_001386393.1(PANK2):c.25C>T (p.Arg9Ter)	80025	PANK2	Uncertain significance	rs944348405	RCV001216862\|RCV001529170;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3870102	3870102	20:g.3870102C>T	-
NM_001386393.1(PANK2):c.25C>G (p.Arg9Gly)	80025	PANK2	Uncertain significance	-1	RCV002027676;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870102	3870102	3870102	-
NM_001386393.1(PANK2):c.33G>A (p.Leu11_Leu12=)	80025	PANK2	Likely benign	-1	RCV003093545;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870110	3870110	NC_000020.10:g.3870110G>A	-
NM_001386393.1(PANK2):c.37C>T (p.Arg13Trp)	80025	PANK2	Uncertain significance	-1	RCV002042536;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870114	3870114	3870114	-
NM_001386393.1(PANK2):c.39G>A (p.Arg13=)	80025	PANK2	Likely benign	rs1327793374	RCV002539397;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870116	3870116	20:g.3870116G>A	-
NM_001386393.1(PANK2):c.40A>G (p.Met14Val)	80025	PANK2	Uncertain significance	-1	RCV002252994\|RCV003094116;	N	\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870117	3870117	3870117	-
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala)	80025	PANK2	Benign	rs3737084	RCV000082679\|RCV000313320\|RCV000675588\|RCV001787900;	N	MedGen:CN169374\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202\|MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855	20	3870124	3870124	20:g.3870124G>C	ClinGen:CA149584,UniProtKB:Q9BZ23#VAR_015153	CN517202 not provided;
NM_001386393.1(PANK2):c.47G>A (p.Gly16Glu)	80025	PANK2	Likely benign	-1	RCV003078287;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870124	3870124	NC_000020.10:g.3870124G>A	-
NM_001386393.1(PANK2):c.49G>A (p.Gly17Ser)	80025	PANK2	Uncertain significance	-1	RCV001877381;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870126	3870126	3870126	-
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val)	80025	PANK2	Benign/Likely benign	rs528149001	RCV000393838\|RCV000631203\|RCV001697650;	N	MedGen:CN169374\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3870127	3870127	20:g.3870127G>T	ClinGen:CA9750566	CN169374 not specified;
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln)	80025	PANK2	Conflicting interpretations of pathogenicity	rs546381069	RCV000631205\|RCV002282271;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN169374	20	3870130	3870130	20:g.3870130G>A	ClinGen:CA9750569	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.54G>C (p.Arg18=)	80025	PANK2	Uncertain significance	rs930563925	RCV001143295;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870131	3870131	20:g.3870131G>C	-
NM_001386393.1(PANK2):c.55C>T (p.Leu19Phe)	80025	PANK2	Likely benign	-1	RCV001905248;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870132	3870132	3870132	-
NM_001386393.1(PANK2):c.55C>G (p.Leu19Val)	80025	PANK2	Uncertain significance	-1	RCV001941442;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870132	3870132	3870132	-
NM_001386393.1(PANK2):c.66C>T (p.Pro22=)	80025	PANK2	Uncertain significance	rs754198411	RCV001143296;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870143	3870143	20:g.3870143C>T	-
NM_001386393.1(PANK2):c.67A>G (p.Met23Val)	80025	PANK2	Pathogenic	-1	RCV001420152;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870144	3870144	3870144	-
NM_001386393.1(PANK2):c.67A>C (p.Met23Leu)	80025	PANK2	Uncertain significance	-1	RCV002001728;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870144	3870144	3870144	-
NM_001386393.1(PANK2):c.73C>T (p.Arg25Cys)	80025	PANK2	Uncertain significance	-1	RCV002821036;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870150	3870150	NC_000020.10:g.3870150C>T	-
NM_001386393.1(PANK2):c.78C>A (p.His26Gln)	80025	PANK2	Uncertain significance	-1	RCV001997206;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870155	3870155	3870155	-
NM_001386393.1(PANK2):c.99C>T (p.Ser33_Val34=)	80025	PANK2	Likely benign	-1	RCV002647925;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870176	3870176	NC_000020.10:g.3870176C>T	-
NM_001386393.1(PANK2):c.100G>T (p.Val34Phe)	80025	PANK2	Uncertain significance	-1	RCV002006688;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870177	3870177	3870177	-
NM_001386393.1(PANK2):c.108G>C (p.Ser36=)	80025	PANK2	Likely benign	rs1037083433	RCV000905896\|RCV002275175;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3870185	3870185	20:g.3870185G>C	-
NM_001386393.1(PANK2):c.108G>A (p.Ser36_Ala37=)	80025	PANK2	Likely benign	-1	RCV003053262;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870185	3870185	NC_000020.10:g.3870185G>A	-
NM_001386393.1(PANK2):c.115G>T (p.Glu39Ter)	80025	PANK2	Pathogenic	rs528889529	RCV001206525;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870192	3870192	20:g.3870192G>T	-
NM_001386393.1(PANK2):c.115G>A (p.Glu39Lys)	80025	PANK2	Uncertain significance	-1	RCV001925178;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870192	3870192	3870192	-
NM_001386393.1(PANK2):c.116A>G (p.Glu39Gly)	80025	PANK2	Uncertain significance	-1	RCV003019024;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870193	3870193	NC_000020.10:g.3870193A>G	-
NM_001386393.1(PANK2):c.118C>A (p.Gln40Lys)	80025	PANK2	Uncertain significance	-1	RCV001919460;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870195	3870195	3870195	-
NM_001386393.1(PANK2):c.119A>G (p.Gln40Arg)	80025	PANK2	Uncertain significance	-1	RCV002624715\|RCV002651265;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870196	3870196	NC_000020.10:g.3870196A>G	-
NM_001386393.1(PANK2):c.132C>T (p.Asp44=)	80025	PANK2	Benign	rs781106176	RCV000676173\|RCV001519497;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870209	3870209	NC_000020.10:g.3870209C>T	-	CN517202 not provided;
NM_001386393.1(PANK2):c.133C>T (p.Pro45Ser)	80025	PANK2	Uncertain significance	-1	RCV001962777;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870210	3870210	3870210	-
NM_001386393.1(PANK2):c.141_155dup (p.Pro52_Leu53insArgArgGlnGluPro)	80025	PANK2	Uncertain significance	-1	RCV002623427;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870217	3870218	NC_000020.10:g.3870218_3870232dup	-
NM_001386393.1(PANK2):c.141G>T (p.Gly47_Arg48=)	80025	PANK2	Likely benign	-1	RCV002881259;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870218	3870218	NC_000020.10:g.3870218G>T	-
NM_001386393.1(PANK2):c.142C>G (p.Arg48Gly)	80025	PANK2	Uncertain significance	rs1416234460	RCV000690316;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870219	3870219	NC_000020.10:g.3870219C>G	-	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.157C>T (p.Leu53_Arg54=)	80025	PANK2	Likely benign	-1	RCV002908353;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870234	3870234	NC_000020.10:g.3870234C>T	-
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs)	80025	PANK2	Pathogenic/Likely pathogenic	rs755653150	RCV000598553\|RCV000990270\|RCV002506443;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855; MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870251	3870258	20:g.3870251_3870258del	ClinGen:CA9750591	CN517202 not provided;
NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr)	80025	PANK2	Uncertain significance	rs1568550594	RCV000732725\|RCV001855692;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870253	3870254	NC_000020.10:g.3870253_3870254delinsCT	-
NM_001386393.1(PANK2):c.180G>A (p.Ala60=)	80025	PANK2	Likely benign	-1	RCV002101967;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870257	3870257	3870257	-
NM_001386393.1(PANK2):c.182C>T (p.Ser61Leu)	80025	PANK2	Uncertain significance	-1	RCV001930068;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870259	3870259	3870259	-
NM_001386393.1(PANK2):c.183G>T (p.Ser61=)	80025	PANK2	Likely benign	-1	RCV002180025;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870260	3870260	3870260	-
NM_001386393.1(PANK2):c.189C>G (p.Pro63=)	80025	PANK2	Benign/Likely benign	rs71647829	RCV000335556\|RCV000676174;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3870266	3870266	20:g.3870266C>G	ClinGen:CA9750595	CN517202 not provided;
NM_001386393.1(PANK2):c.189C>T (p.Pro63=)	80025	PANK2	Likely benign	-1	RCV002161224;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870266	3870266	3870266	-
NM_001386393.1(PANK2):c.198G>A (p.Gly66=)	80025	PANK2	Likely benign	rs751025789	RCV002547253;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870275	3870275	20:g.3870275G>A	-
NM_001386393.1(PANK2):c.201C>T (p.Ala67=)	80025	PANK2	Likely benign	rs756936934	RCV000675589\|RCV002532169;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870278	3870278	20:g.3870278C>T	-	CN517202 not provided;
NM_001386393.1(PANK2):c.201C>A (p.Ala67=)	80025	PANK2	Likely benign	-1	RCV002081291;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870278	3870278	3870278	-
NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter)	80025	PANK2	Pathogenic	rs137852969	RCV000004823;	Y	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870280	3870280	20:g.3870280C>A	ClinGen:CA253224,OMIM:606157.0015	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.203C>T (p.Ser68Leu)	80025	PANK2	Uncertain significance	rs137852969	RCV001338030;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870280	3870280	3870280	-
NM_001386393.1(PANK2):c.204G>C (p.Ser68=)	80025	PANK2	Likely benign	-1	RCV002150164;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870281	3870281	3870281	-
NM_001386393.1(PANK2):c.207T>A (p.Ala69=)	80025	PANK2	Likely benign	-1	RCV002035768;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870284	3870284	3870284	-
NM_001386393.1(PANK2):c.215C>A (p.Thr72Lys)	80025	PANK2	Uncertain significance	rs755932521	RCV000810780;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870292	3870292	20:g.3870292C>A	-
NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs)	80025	PANK2	Pathogenic	-1	RCV002510609\|RCV003138286;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3870292	3870293	NC_000020.10:g.3870292_3870293insA	-
NM_001386393.1(PANK2):c.233G>C (p.Gly78Ala)	80025	PANK2	Uncertain significance	rs1380924374	RCV000798597;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870310	3870310	20:g.3870310G>C	-
NM_001386393.1(PANK2):c.233G>T (p.Gly78Val)	80025	PANK2	Uncertain significance	-1	RCV001933574;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870310	3870310	3870310	-
NM_001386393.1(PANK2):c.236C>T (p.Ser79Phe)	80025	PANK2	Uncertain significance	-1	RCV002726898;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870313	3870313	NC_000020.10:g.3870313C>T	-
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer)	80025	PANK2	Pathogenic/Likely pathogenic	rs1600477446	RCV000990271\|RCV002245821\|RCV002252289;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855; MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|	20	3870316	3870317	20:g.3870316_3870317del	-
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)	80025	PANK2	Pathogenic	rs137852960	RCV000004809;	Y	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870317	3870317	20:g.3870317C>G	ClinGen:CA253209,OMIM:606157.0003	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.243del (p.Ser81fs)	80025	PANK2	Pathogenic	rs916725028	RCV001049500\|RCV001268830;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3870320	3870320	20:g.3870320_3870320del	-
NM_001386393.1(PANK2):c.252C>T (p.Thr84_Ser85=)	80025	PANK2	Likely benign	-1	RCV002676927;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870329	3870329	NC_000020.10:g.3870329C>T	-
NM_001386393.1(PANK2):c.255G>T (p.Ser85=)	80025	PANK2	Conflicting interpretations of pathogenicity	rs375741383	RCV000952180\|RCV002462235;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3870332	3870332	20:g.3870332G>T	-
NM_001386393.1(PANK2):c.255G>A (p.Ser85=)	80025	PANK2	Uncertain significance	rs375741383	RCV001136716;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870332	3870332	20:g.3870332G>A	-
NM_001386393.1(PANK2):c.258C>G (p.Val86=)	80025	PANK2	Conflicting interpretations of pathogenicity	rs746054643	RCV000912721;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870335	3870335	20:g.3870335C>G	-
NM_001386393.1(PANK2):c.275A>G (p.Glu92Gly)	80025	PANK2	Uncertain significance	-1	RCV001916391;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870352	3870352	3870352	-
NM_001386393.1(PANK2):c.291G>A (p.Lys97=)	80025	PANK2	Likely benign	-1	RCV002191600\|RCV002505868;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850; MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855	20	3870368	3870368	3870368	-
NM_001386393.1(PANK2):c.294G>A (p.Arg98=)	80025	PANK2	Conflicting interpretations of pathogenicity	rs1443740202	RCV000591482\|RCV002062067;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870371	3870371	20:g.3870371G>A	ClinGen:CA509428107	CN169374 not specified;
NM_001386393.1(PANK2):c.298+2dup	80025	PANK2	Uncertain significance	-1	RCV001529730\|RCV002568878;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870376	3870377	3870376	-
NM_001386393.1(PANK2):c.298+3_298+6del	80025	PANK2	Uncertain significance	-1	RCV002735127;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870376	3870379	NC_000020.10:g.3870378_3870381del	-
NM_001386393.1(PANK2):c.298+10C>T	80025	PANK2	Conflicting interpretations of pathogenicity	rs755815669	RCV001136717;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870385	3870385	20:g.3870385C>T	-
NM_001386393.1(PANK2):c.298+15G>C	80025	PANK2	Conflicting interpretations of pathogenicity	rs566953264	RCV000391971;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870390	3870390	20:g.3870390G>C	ClinGen:CA9750620	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.298+18C>T	80025	PANK2	Likely benign	-1	RCV002627647;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3870393	3870393	NC_000020.10:g.3870393C>T	-
NC_000020.10:g.(?_3888553)_(3888945_?)del	80025	PANK2	Pathogenic	-1	RCV003113763;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888553	3888945		-
NM_001386393.1(PANK2):c.299-14del	80025	PANK2	Benign	-1	RCV003080324;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888555	3888555	NC_000020.10:g.3888559del	-
NM_001386393.1(PANK2):c.299-9C>G	80025	PANK2	Likely benign	-1	RCV001934431;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888564	3888564	3888564	-
GRCh37/hg19 20p13(chr20:3888573-3888925)	80025	PANK2	Pathogenic	-1	RCV001004091;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888573	3888925		-
NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu)	80025	PANK2	Conflicting interpretations of pathogenicity	rs762879569	RCV000493982\|RCV000631200;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888588	3888588	20:g.3888588G>A	ClinGen:CA9750673	CN517202 not provided;
NM_001386393.1(PANK2):c.317dup (p.Asp107fs)	80025	PANK2	Pathogenic	-1	RCV001965392;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888590	3888591	3888590	-
NM_001386393.1(PANK2):c.317T>A (p.Leu106Gln)	80025	PANK2	Uncertain significance	-1	RCV002301950;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888591	3888591	3888591	-
NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu)	80025	PANK2	Uncertain significance	-1	RCV001806316;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888596	3888596	3888596	-
NM_001386393.1(PANK2):c.324C>T (p.Ile108=)	80025	PANK2	Likely benign	-1	RCV002219402;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888598	3888598	3888598	-
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys)	80025	PANK2	Pathogenic	rs1555787646	RCV000544004\|RCV002466529;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3888624	3888624	20:g.3888624A>G	ClinGen:CA408112247	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser)	80025	PANK2	Pathogenic	-1	RCV001379451;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888627	3888627	3888627	-
NM_001386393.1(PANK2):c.358C>T (p.Pro120Ser)	80025	PANK2	Uncertain significance	-1	RCV001964656;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888632	3888632	3888632	-
NM_001386393.1(PANK2):c.367A>G (p.Ile123Val)	80025	PANK2	Uncertain significance	-1	RCV001992611;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888641	3888641	3888641	-
NM_001386393.1(PANK2):c.369C>A (p.Ile123=)	80025	PANK2	Likely benign	-1	RCV002109633;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888643	3888643	3888643	-
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala)	80025	PANK2	Uncertain significance	rs137852965	RCV000004814\|RCV001851655;	Y	MedGen:C2751506\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888644	3888644	20:g.3888644A>G	UniProtKB:Q9BZ23#VAR_015155,OMIM:606157.0008,ClinGen:CA116921	C2751506 Neurodegeneration with brain iron accumulation 1, atypical;
NM_001386393.1(PANK2):c.383A>G (p.Glu128Gly)	80025	PANK2	Uncertain significance	rs2090413830	RCV001201697;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888657	3888657	20:g.3888657A>G	-
NM_001386393.1(PANK2):c.384A>G (p.Glu128=)	80025	PANK2	Likely benign	rs1168477276	RCV000631204\|RCV001289111;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3888658	3888658	NC_000020.10:g.3888658A>G	ClinGen:CA509422270	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.394G>C (p.Val132Leu)	80025	PANK2	Uncertain significance	-1	RCV002695238;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888668	3888668	NC_000020.10:g.3888668G>C	-
NM_001386393.1(PANK2):c.415_495dup (p.Arg139_Leu165dup)	80025	PANK2	Uncertain significance	rs1568569482	RCV001216578;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888688	3888689	20:g.3888688_3888689insCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTG	-
NM_001386393.1(PANK2):c.422A>G (p.Tyr141Cys)	80025	PANK2	Uncertain significance	-1	RCV002720653;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888696	3888696	NC_000020.10:g.3888696A>G	-
NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg)	80025	PANK2	Uncertain significance	-1	RCV002277633;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888699	3888699	3888699	-
NM_001386393.1(PANK2):c.425T>A (p.Leu142Gln)	80025	PANK2	Uncertain significance	-1	RCV002810292;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888699	3888699	NC_000020.10:g.3888699T>A	-
NM_001386393.1(PANK2):c.434A>G (p.Asn145Ser)	80025	PANK2	Uncertain significance	-1	RCV002050620\|RCV002543491;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MeSH:D030342,MedGen:C0950123	20	3888708	3888708	3888708	-
NM_001386393.1(PANK2):c.440_441insCT (p.Tyr148fs)	80025	PANK2	Pathogenic	-1	RCV001999812;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888714	3888715	3888714	-
NM_001386393.1(PANK2):c.451A>G (p.Thr151Ala)	80025	PANK2	Uncertain significance	-1	RCV003002047;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888725	3888725	NC_000020.10:g.3888725A>G	-
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp)	80025	PANK2	Likely pathogenic	rs137852961	RCV000004810\|RCV002460885;	Y	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3888734	3888734	20:g.3888734C>T	ClinGen:CA253211,UniProtKB:Q9BZ23#VAR_015156,OMIM:606157.0004	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)	80025	PANK2	Conflicting interpretations of pathogenicity	rs368682034	RCV001268386\|RCV002252354\|RCV002537709;	N	MedGen:CN517202\|\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888735	3888735	20:g.3888735G>A	-
NM_001386393.1(PANK2):c.466G>A (p.Val156Met)	80025	PANK2	Uncertain significance	rs753145257	RCV000584963\|RCV001853955;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888740	3888740	20:g.3888740G>A	ClinGen:CA9750697	CN517202 not provided;
NM_001386393.1(PANK2):c.474C>T (p.Leu158=)	80025	PANK2	Likely benign	-1	RCV001422044;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888748	3888748	3888748	-
NM_001386393.1(PANK2):c.475G>A (p.Glu159Lys)	80025	PANK2	Uncertain significance	rs778263915	RCV000808841;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888749	3888749	20:g.3888749G>A	-
NM_001386393.1(PANK2):c.489G>A (p.Leu163=)	80025	PANK2	Benign/Likely benign	rs71647837	RCV000675591\|RCV001079817;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888763	3888763	NC_000020.10:g.3888763G>A	-	CN517202 not provided;
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs)	80025	PANK2	Pathogenic	rs750440690	RCV001069094;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888765	3888766	20:g.3888765_3888766del	-
NM_001386393.1(PANK2):c.502_503delinsAC (p.Arg168Thr)	80025	PANK2	Uncertain significance	-1	RCV002926823;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888776	3888777	NC_000020.10:g.3888776_3888777delinsAC	-
NM_001386393.1(PANK2):c.503G>A (p.Arg168His)	80025	PANK2	Uncertain significance	-1	RCV002722010;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888777	3888777	NC_000020.10:g.3888777G>A	-
NM_001386393.1(PANK2):c.506A>G (p.Lys169Arg)	80025	PANK2	Uncertain significance	-1	RCV001368328;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888780	3888780	3888780	-
NM_001386393.1(PANK2):c.519C>A (p.His173Gln)	80025	PANK2	Uncertain significance	-1	RCV001991576;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888793	3888793	3888793	-
NM_001386393.1(PANK2):c.521_525dup (p.Arg176fs)	80025	PANK2	Pathogenic	rs1600534514	RCV000822290;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888794	3888795	20:g.3888794_3888795insTTATA	-
NM_001386393.1(PANK2):c.522T>C (p.Phe174_Ile175=)	80025	PANK2	Likely benign	-1	RCV002866089;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888796	3888796	NC_000020.10:g.3888796T>C	-
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys)	80025	PANK2	Pathogenic	rs137852962	RCV000004811;	Y	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888800	3888800	20:g.3888800C>T	ClinGen:CA253212,UniProtKB:Q9BZ23#VAR_015159,OMIM:606157.0005	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.566G>A (p.Gly189Asp)	80025	PANK2	Uncertain significance	-1	RCV001906588;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888840	3888840	3888840	-
NM_001386393.1(PANK2):c.579del (p.Phe194fs)	80025	PANK2	Pathogenic	rs1568569941	RCV000703387;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888853	3888853	20:g.3888853_3888853del	-	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.585G>A (p.Ser195=)	80025	PANK2	Likely benign	-1	RCV002202940;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888859	3888859	3888859	-
NM_001386393.1(PANK2):c.600_606del (p.Phe201fs)	80025	PANK2	Pathogenic	rs879253712	RCV000004806;	Y	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888871	3888877	NC_000020.10:g.3888871_3888877delTGTCTTT	ClinGen:CA10575486,OMIM:606157.0001	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.600C>G (p.Val200=)	80025	PANK2	Likely benign	-1	RCV002186389;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888874	3888874	3888874	-
NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter)	80025	PANK2	Pathogenic	rs1555787799	RCV000500586;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888880	3888880	20:g.3888880T>A	ClinGen:CA408112916	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.618T>G (p.Gly206=)	80025	PANK2	Likely benign	-1	RCV002105314;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888892	3888892	3888892	-
NM_001386393.1(PANK2):c.624G>A (p.Ala208=)	80025	PANK2	Benign/Likely benign	rs78631398	RCV000300446\|RCV002510879;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3888898	3888898	NC_000020.10:g.3888898G>A	ClinGen:CA9750725	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.624G>T (p.Ala208=)	80025	PANK2	Likely benign	-1	RCV002173509;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888898	3888898	3888898	-
NM_001386393.1(PANK2):c.629A>G (p.Lys210Arg)	80025	PANK2	Uncertain significance	-1	RCV002005730;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888903	3888903	3888903	-
NM_001386393.1(PANK2):c.636G>A (p.Glu212_Gln213=)	80025	PANK2	Likely benign	-1	RCV002851097;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888910	3888910	NC_000020.10:g.3888910G>A	-
NM_001386393.1(PANK2):c.651+3A>G	80025	PANK2	Conflicting interpretations of pathogenicity	rs1131691472	RCV000494403\|RCV001851354;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888928	3888928	20:g.3888928A>G	ClinGen:CA645369748	CN517202 not provided;
NM_001386393.1(PANK2):c.651+3A>C	80025	PANK2	Uncertain significance	-1	RCV002025022;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888928	3888928	3888928	-
NM_001386393.1(PANK2):c.651+7A>G	80025	PANK2	Likely benign	-1	RCV003009303;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888932	3888932	NC_000020.10:g.3888932A>G	-
NM_001386393.1(PANK2):c.651+9T>C	80025	PANK2	Likely benign	-1	RCV002177484;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3888934	3888934	3888934	-
NC_000020.10:g.(?_3891204)_(3893301_?)del	80025	PANK2	Pathogenic	-1	RCV003113765;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891204	3893301		-
NM_001386393.1(PANK2):c.652-18A>C	80025	PANK2	Benign	-1	RCV002176419;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891206	3891206	3891206	-
NM_001386393.1(PANK2):c.652-16T>A	80025	PANK2	Likely benign	-1	RCV003047926;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891208	3891208	NC_000020.10:g.3891208T>A	-
NM_001386393.1(PANK2):c.652-1G>C	80025	PANK2	Pathogenic	-1	RCV001975059;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891223	3891223	3891223	-
NM_001386393.1(PANK2):c.652A>G (p.Ile218Val)	80025	PANK2	Uncertain significance	-1	RCV002658962;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891224	3891224	NC_000020.10:g.3891224A>G	-
NM_001386393.1(PANK2):c.655G>T (p.Gly219Cys)	80025	PANK2	Uncertain significance	-1	RCV002017114;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891227	3891227	3891227	-
NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter)	80025	PANK2	Pathogenic	-1	RCV002266168;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891236	3891236	3891236	-
NM_001386393.1(PANK2):c.676C>T (p.Leu226_Asp227=)	80025	PANK2	Likely benign	-1	RCV002604921;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891248	3891248	NC_000020.10:g.3891248C>T	-
NM_001386393.1(PANK2):c.694T>C (p.Leu232=)	80025	PANK2	Conflicting interpretations of pathogenicity	rs143090515	RCV000936057\|RCV001138964;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891266	3891266	20:g.3891266T>C	-
NM_001386393.1(PANK2):c.695T>C (p.Leu232Ser)	80025	PANK2	Uncertain significance	-1	RCV003070979;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891267	3891267	NC_000020.10:g.3891267T>C	-
NM_001386393.1(PANK2):c.701A>C (p.Lys234Thr)	80025	PANK2	Uncertain significance	-1	RCV002016145\|RCV002548124;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MeSH:D030342,MedGen:C0950123	20	3891273	3891273	3891273	-
NM_001386393.1(PANK2):c.706A>G (p.Ile236Val)	80025	PANK2	Uncertain significance	-1	RCV001359273;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891278	3891278	3891278	-
NM_001386393.1(PANK2):c.710T>C (p.Leu237Ser)	80025	PANK2	Uncertain significance	-1	RCV002816501;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891282	3891282	NC_000020.10:g.3891282T>C	-
NM_001386393.1(PANK2):c.713A>T (p.Tyr238Phe)	80025	PANK2	not provided	-1	RCV002509004;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891285	3891285	NC_000020.10:g.3891285A>T	-
NM_001386393.1(PANK2):c.717T>C (p.Ile239=)	80025	PANK2	Conflicting interpretations of pathogenicity	rs1742717583	RCV001138965;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891289	3891289	20:g.3891289T>C	-
NM_001386393.1(PANK2):c.726C>T (p.Val242=)	80025	PANK2	Likely benign	-1	RCV002104174;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891298	3891298	3891298	-
NM_001386393.1(PANK2):c.728G>A (p.Gly243Glu)	80025	PANK2	Uncertain significance	-1	RCV002001273;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891300	3891300	3891300	-
NM_001386393.1(PANK2):c.731T>G (p.Phe244Cys)	80025	PANK2	Uncertain significance	-1	RCV003071658;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891303	3891303	NC_000020.10:g.3891303T>G	-
NM_001386393.1(PANK2):c.734A>G (p.Asn245Ser)	80025	PANK2	Uncertain significance	rs746484727	RCV000685837;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891306	3891306	20:g.3891306A>G	-	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)	80025	PANK2	Pathogenic/Likely pathogenic	rs754521581	RCV000990272;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891312	3891312	20:g.3891312G>C	-
NM_001386393.1(PANK2):c.744A>C (p.Ser248=)	80025	PANK2	Conflicting interpretations of pathogenicity	rs778370524	RCV000376324\|RCV002519282;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891316	3891316	20:g.3891316A>C	ClinGen:CA9750763	CN169374 not specified;
NM_001386393.1(PANK2):c.752A>G (p.Tyr251Cys)	80025	PANK2	Uncertain significance	rs1568572918	RCV000697750;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891324	3891324	20:g.3891324A>G	-	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.755_758del (p.Tyr252fs)	80025	PANK2	Pathogenic	rs1600542260	RCV000995828;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891325	3891328	20:g.3891325_3891328del	-
NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter)	80025	PANK2	Pathogenic	rs1600542275	RCV000995829;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891328	3891328	20:g.3891328C>A	-
NM_001386393.1(PANK2):c.765C>G (p.Asn255Lys)	80025	PANK2	Uncertain significance	rs1427550015	RCV000692561;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891337	3891337	20:g.3891337C>G	-	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.767del (p.Pro256fs)	80025	PANK2	Pathogenic	rs753400880	RCV000684919;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891337	3891337	20:g.3891337_3891337del	-	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr)	80025	PANK2	Likely pathogenic	-1	RCV001420153;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891338	3891338	3891338	-
NM_001386393.1(PANK2):c.766C>G (p.Pro256Ala)	80025	PANK2	Uncertain significance	-1	RCV001922286;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891338	3891338	3891338	-
NM_001386393.1(PANK2):c.769G>T (p.Ala257Ser)	80025	PANK2	Uncertain significance	rs1568572979	RCV000687658\|RCV002544785;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MeSH:D030342,MedGen:C0950123	20	3891341	3891341	20:g.3891341G>T	-	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.776C>G (p.Ser259Cys)	80025	PANK2	Uncertain significance	-1	RCV002890660;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891348	3891348	NC_000020.10:g.3891348C>G	-
NM_001386393.1(PANK2):c.780A>G (p.Glu260=)	80025	PANK2	Conflicting interpretations of pathogenicity	rs375501114	RCV000345334\|RCV001405934;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891352	3891352	20:g.3891352A>G	ClinGen:CA9750769	CN169374 not specified;
NM_001386393.1(PANK2):c.783G>A (p.Lys261_Cys262=)	80025	PANK2	Likely benign	-1	RCV002927380;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891355	3891355	NC_000020.10:g.3891355G>A	-
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr)	80025	PANK2	Conflicting interpretations of pathogenicity	rs149907912	RCV002468953;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891357	3891357	NC_000020.10:g.3891357G>A	-
NM_001386393.1(PANK2):c.802G>T (p.Asp268Tyr)	80025	PANK2	Uncertain significance	-1	RCV002979895;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891374	3891374	NC_000020.10:g.3891374G>T	-
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly)	80025	PANK2	Conflicting interpretations of pathogenicity	rs562740927	RCV000490498\|RCV000892134\|RCV002229192;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202\|MedGen:CN169374	20	3891375	3891375	20:g.3891375A>G	ClinGen:CA9750773	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.815C>T (p.Pro272Leu)	80025	PANK2	Uncertain significance	-1	RCV002005825;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891387	3891387	3891387	-
NM_001386393.1(PANK2):c.816G>A (p.Pro272=)	80025	PANK2	Likely benign	-1	RCV001398086;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891388	3891388	3891388	-
NM_001386393.1(PANK2):c.832dup (p.Val278fs)	80025	PANK2	Pathogenic	rs2090456897	RCV001215748;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891402	3891403	20:g.3891402_3891403insG	-
NM_001386393.1(PANK2):c.838A>G (p.Ile280Val)	80025	PANK2	Uncertain significance	-1	RCV002756943;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891410	3891410	NC_000020.10:g.3891410A>G	-
NM_001386393.1(PANK2):c.845C>T (p.Ser282Leu)	80025	PANK2	Uncertain significance	-1	RCV001890260;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891417	3891417	3891417	-
NM_001386393.1(PANK2):c.846_847del (p.Gly283_Val284insTer)	80025	PANK2	Pathogenic	rs778550409	RCV000529253\|RCV003128624;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3891418	3891419	NC_000020.10:g.3891418_3891419del	ClinGen:CA9750781	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.854G>A (p.Ser285Asn)	80025	PANK2	Uncertain significance	-1	RCV001995817;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891426	3891426	3891426	-
NM_001386393.1(PANK2):c.865G>C (p.Val289Leu)	80025	PANK2	Uncertain significance	-1	RCV001912368;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891437	3891437	3891437	-
NM_001386393.1(PANK2):c.868T>C (p.Tyr290His)	80025	PANK2	Uncertain significance	-1	RCV001896748;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891440	3891440	3891440	-
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile)	80025	PANK2	Pathogenic	rs752078407	RCV000803081\|RCV001815438;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3891453	3891453	20:g.3891453A>T	-
NM_001386393.1(PANK2):c.882T>G (p.Asn294Lys)	80025	PANK2	Uncertain significance	-1	RCV001997854;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891454	3891454	3891454	-
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp)	80025	PANK2	Conflicting interpretations of pathogenicity	rs1288629241	RCV001289540;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891455	3891455	3891455	-
NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter)	80025	PANK2	Pathogenic	-1	RCV003050551;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891457	3891457	NC_000020.10:g.3891457C>G	-
NM_001386393.1(PANK2):c.887A>G (p.Lys296Arg)	80025	PANK2	Uncertain significance	-1	RCV002013887;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891459	3891459	3891459	-
NM_001386393.1(PANK2):c.905+1G>T	80025	PANK2	Pathogenic	rs1135401789	RCV000496161;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891478	3891478	20:g.3891478G>T	ClinGen:CA408115849	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.905+1G>C	80025	PANK2	Pathogenic	rs1135401789	RCV001331812;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891478	3891478	3891478	-
NM_001386393.1(PANK2):c.905+10A>T	80025	PANK2	Likely benign	-1	RCV002624930;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891487	3891487	NC_000020.10:g.3891487A>T	-
NM_001386393.1(PANK2):c.905+14A>T	80025	PANK2	Likely benign	-1	RCV002184973;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891491	3891491	3891491	-
NM_001386393.1(PANK2):c.905+18C>T	80025	PANK2	Likely benign	-1	RCV002200896;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3891495	3891495	3891495	-
NM_001386393.1(PANK2):c.906-99_929del	80025	PANK2	Pathogenic	-1	RCV001954573;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893002	3893124	3893001	-
NM_001386393.1(PANK2):c.906-21_906-19del	80025	PANK2	Likely benign	-1	RCV002912757;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893083	3893085	NC_000020.10:g.3893084_3893086del	-
NM_001386393.1(PANK2):c.906-4A>C	80025	PANK2	Likely benign	-1	RCV002217416;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893101	3893101	3893101	-
NM_001386393.1(PANK2):c.906-2A>C	80025	PANK2	Pathogenic	rs1261714833	RCV000631201;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893103	3893103	NC_000020.10:g.3893103A>C	ClinGen:CA408117112	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs)	80025	PANK2	Pathogenic/Likely pathogenic	rs1555788619	RCV000631202;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893118	3893119	NC_000020.10:g.3893119_3893120dup	ClinGen:CA658799322	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.927del (p.Phe309fs)	80025	PANK2	Pathogenic	rs1568574931	RCV000694769;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893120	3893120	20:g.3893120_3893120del	-	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.923T>G (p.Phe308Cys)	80025	PANK2	Uncertain significance	-1	RCV001901524;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893122	3893122	3893122	-
NM_001386393.1(PANK2):c.932T>G (p.Leu311Arg)	80025	PANK2	Uncertain significance	-1	RCV001981220;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893131	3893131	3893131	-
NM_001386393.1(PANK2):c.944T>C (p.Leu315Pro)	80025	PANK2	Pathogenic	-1	RCV001935746;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893143	3893143	3893143	-
NM_001386393.1(PANK2):c.946A>G (p.Thr316Ala)	80025	PANK2	Uncertain significance	-1	RCV002979174;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893145	3893145	NC_000020.10:g.3893145A>G	-
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr)	80025	PANK2	Uncertain significance	rs1012947103	RCV000678589\|RCV000733234\|RCV001357487;	N	MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000, Orphanet:65\|MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893152	3893152	NC_000020.10:g.3893152G>A	-	C0339527 Leber congenital amaurosis;
NM_001386393.1(PANK2):c.958A>G (p.Thr320Ala)	80025	PANK2	Uncertain significance	-1	RCV001924514\|RCV002552857;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MeSH:D030342,MedGen:C0950123	20	3893157	3893157	3893157	-
NM_001386393.1(PANK2):c.960T>C (p.Thr320=)	80025	PANK2	Benign	rs149583615	RCV000516536\|RCV000945335\|RCV001520010;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893159	3893159	20:g.3893159T>C	ClinGen:CA9750814	CN169374 not specified;
NM_001386393.1(PANK2):c.971C>A (p.Ala324Asp)	80025	PANK2	Uncertain significance	-1	RCV001984739;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893170	3893170	3893170	-
NM_001386393.1(PANK2):c.978A>G (p.Glu326=)	80025	PANK2	Likely benign	-1	RCV002072523;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893177	3893177	3893177	-
NM_001386393.1(PANK2):c.987del (p.Arg330fs)	80025	PANK2	Pathogenic	rs544616523	RCV000678590\|RCV001861860;	N	Human Phenotype Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970, Orphanet:1872\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893186	3893186	NC_000020.10:g.3893186del	-	C4085590 Cone-rod dystrophy;
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)	80025	PANK2	Uncertain significance	rs201329683	RCV000355680\|RCV002523160;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MeSH:D030342,MedGen:C0950123	20	3893187	3893187	NC_000020.10:g.3893187C>T	ClinGen:CA9750815	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.989G>A (p.Arg330His)	80025	PANK2	Uncertain significance	-1	RCV002927888\|RCV002927887;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893188	3893188	NC_000020.10:g.3893188G>A	-
NM_001386393.1(PANK2):c.1002C>G (p.Thr334=)	80025	PANK2	Likely benign	-1	RCV001499365;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893201	3893201	3893201	-
NM_001386393.1(PANK2):c.1010A>G (p.Asp337Gly)	80025	PANK2	Uncertain significance	rs1568575238	RCV000695445;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893209	3893209	NC_000020.10:g.3893209A>G	-	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter)	80025	PANK2	Pathogenic	rs1250997630	RCV000826147;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893220	3893220	20:g.3893220C>T	-
NM_001386393.1(PANK2):c.1024G>T (p.Asp342Tyr)	80025	PANK2	Likely pathogenic	rs1568575271	RCV000702793;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893223	3893223	NC_000020.10:g.3893223G>T	-	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly)	80025	PANK2	Conflicting interpretations of pathogenicity	rs763496520	RCV001215749\|RCV003132279;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3893224	3893224	20:g.3893224A>G	-
NM_001386393.1(PANK2):c.1038G>A (p.Gly346=)	80025	PANK2	Likely benign	-1	RCV001503448;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893237	3893237	3893237	-
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=)	80025	PANK2	Conflicting interpretations of pathogenicity	rs564606657	RCV001138966;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893264	3893264	20:g.3893264C>G	-
NM_001386393.1(PANK2):c.1068G>T (p.Trp356Cys)	80025	PANK2	Uncertain significance	-1	RCV001894352;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893267	3893267	3893267	-
NM_001386393.1(PANK2):c.1071T>C (p.Ala357_Val358=)	80025	PANK2	Likely benign	-1	RCV002616255;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893270	3893270	NC_000020.10:g.3893270T>C	-
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn)	80025	PANK2	Pathogenic	rs137852963	RCV000004812;	Y	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893281	3893281	20:g.3893281G>A	ClinGen:CA253213,UniProtKB:Q9BZ23#VAR_015165,OMIM:606157.0006	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.1082+1G>C	80025	PANK2	Likely pathogenic	rs1600548506	RCV000808102;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3893282	3893282	20:g.3893282G>C	-
NM_001386393.1(PANK2):c.1083-20T>C	80025	PANK2	Likely benign	-1	RCV002085225;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897554	3897554	3897554	-
NM_001386393.1(PANK2):c.1083-14_1083-9dup	80025	PANK2	Benign	rs10679953	RCV000082678\|RCV000302058\|RCV000675594;	N	MedGen:CN169374\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3897559	3897560	20:g.3897559_3897560insTTCCCC	ClinGen:CA149583	CN517202 not provided;
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT	80025	PANK2	Benign/Likely benign	rs1555789541	RCV000265618\|RCV000675593;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3897559	3897560	NC_000020.10:g.3897560_3897561insCCCCCT	ClinGen:CA9750857	CN517202 not provided;
NM_001386393.1(PANK2):c.1083-3_1083-2del	80025	PANK2	Conflicting interpretations of pathogenicity	rs760705943	RCV000953836\|RCV001479527\|RCV002271601;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN169374	20	3897569	3897570	20:g.3897569_3897570del	-
NM_001386393.1(PANK2):c.1083-5C>T	80025	PANK2	Likely benign	-1	RCV002712047;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897569	3897569	NC_000020.10:g.3897569C>T	-
NM_001386393.1(PANK2):c.1083-4A>C	80025	PANK2	Conflicting interpretations of pathogenicity	rs562997544	RCV001310447\|RCV001413996;	N	MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897570	3897570	3897570	-
NM_001386393.1(PANK2):c.1083-1G>T	80025	PANK2	Pathogenic/Likely pathogenic	rs148987163	RCV000004821\|RCV000004820\|RCV002247248\|RCV002512774;	Y	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	3897573	3897573	20:g.3897573G>T	ClinGen:CA10575487,OMIM:606157.0013	C1846582 607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;
NM_001386393.1(PANK2):c.1086del (p.Phe362fs)	80025	PANK2	Pathogenic	-1	RCV001905178;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897575	3897575	3897574	-
NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr)	80025	PANK2	Pathogenic	-1	RCV003064597;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897585	3897585	NC_000020.10:g.3897585T>C	-
NM_001386393.1(PANK2):c.1096_1099del (p.Met366fs)	80025	PANK2	Pathogenic	rs1555789557	RCV000578477;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897587	3897590	NC_000020.10:g.3897587_3897590del	ClinGen:CA658684233	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.1097T>A (p.Met366Lys)	80025	PANK2	Uncertain significance	-1	RCV002829018;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897588	3897588	NC_000020.10:g.3897588T>A	-
NM_001386393.1(PANK2):c.1100G>A (p.Ser367Asn)	80025	PANK2	Uncertain significance	-1	RCV002810224;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897591	3897591	NC_000020.10:g.3897591G>A	-
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)	80025	PANK2	Uncertain significance	rs559623184	RCV001003627\|RCV001138967\|RCV001772184\|RCV002479198;	N	Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850; M	20	3897593	3897593	20:g.3897593A>G	-
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter)	80025	PANK2	Pathogenic	rs137852968	RCV000004818\|RCV000821698\|RCV001003628;	N	MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421	20	3897602	3897602	20:g.3897602C>T	ClinGen:CA253216,OMIM:606157.0011	C1846582 607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;
NM_001386393.1(PANK2):c.1111C>G (p.Arg371Gly)	80025	PANK2	Uncertain significance	-1	RCV003052367;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897602	3897602	NC_000020.10:g.3897602C>G	-
NM_001386393.1(PANK2):c.1112_1114del (p.Arg371_Glu372delinsGln)	80025	PANK2	Pathogenic/Likely pathogenic	rs766251466	RCV000004822\|RCV001574642;	Y	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3897603	3897605	NC_000020.10:g.3897603_3897605del	ClinGen:CA9750869,OMIM:606157.0014	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro)	80025	PANK2	Uncertain significance	rs1241995212	RCV000714591\|RCV000714592;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855	20	3897603	3897603	NC_000020.10:g.3897603G>C	-
NM_001386393.1(PANK2):c.1143A>C (p.Arg381Ser)	80025	PANK2	Uncertain significance	-1	RCV003031052;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897634	3897634	NC_000020.10:g.3897634A>C	-
NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser)	80025	PANK2	Likely pathogenic	rs111863748	RCV000990273;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897642	3897642	20:g.3897642T>C	-
NM_001386393.1(PANK2):c.1152G>C (p.Leu384Phe)	80025	PANK2	Uncertain significance	-1	RCV002856156;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897643	3897643	NC_000020.10:g.3897643G>C	-
NM_001386393.1(PANK2):c.1160T>C (p.Ile387Thr)	80025	PANK2	Uncertain significance	rs2090571848	RCV001294292;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897651	3897651	3897651	-
NM_001386393.1(PANK2):c.1167C>T (p.Asn389=)	80025	PANK2	Likely benign	-1	RCV002007431;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897658	3897658	3897658	-
NM_001386393.1(PANK2):c.1188A>T (p.Arg396Ser)	80025	PANK2	Uncertain significance	-1	RCV002510620;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897679	3897679	NC_000020.10:g.3897679A>T	-
NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu)	80025	PANK2	Uncertain significance	rs146902739	RCV001138968;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897680	3897680	20:g.3897680A>C	-
NM_001386393.1(PANK2):c.1195G>A (p.Ala399Thr)	80025	PANK2	Uncertain significance	-1	RCV002580072;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897686	3897686	NC_000020.10:g.3897686G>A	-
NM_001386393.1(PANK2):c.1201A>G (p.Asn401Asp)	80025	PANK2	Uncertain significance	-1	RCV002643703;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897692	3897692	NC_000020.10:g.3897692A>G	-
NM_001386393.1(PANK2):c.1206+19_1206+22del	80025	PANK2	Likely benign	-1	RCV002770786;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3897713	3897716	NC_000020.10:g.3897716_3897719del	-
NM_001386393.1(PANK2):c.1207-12dup	80025	PANK2	Benign	-1	RCV002136918;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899299	3899300	3899299	-
NM_001386393.1(PANK2):c.1207-17T>C	80025	PANK2	Likely benign	-1	RCV002156343;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899301	3899301	3899301	-
NM_001386393.1(PANK2):c.1207-11G>C	80025	PANK2	Likely benign	-1	RCV002107939;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899307	3899307	3899307	-
NM_001386393.1(PANK2):c.1207-3C>G	80025	PANK2	Conflicting interpretations of pathogenicity	rs370766524	RCV000803694;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899315	3899315	20:g.3899315C>G	-
NM_001386393.1(PANK2):c.1216C>G (p.Gln406Glu)	80025	PANK2	Uncertain significance	-1	RCV001979593;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899327	3899327	3899327	-
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)	80025	PANK2	Pathogenic	rs137852959	RCV000004807\|RCV000004808\|RCV000132732\|RCV000190815\|RCV000224470\|RCV001588799\|RCV002496261;	Y	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:C2751506\|MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D01	20	3899342	3899342	20:g.3899342G>A	ClinGen:CA116915,UniProtKB:Q9BZ23#VAR_015168,OMIM:606157.0002	C1846582 607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)	80025	PANK2	Pathogenic	rs137852967	RCV000004816\|RCV000004817\|RCV000132733\|RCV001310448\|RCV002512773;	Y	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:C2751506\|MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	3899364	3899364	20:g.3899364C>T	ClinGen:CA116923,UniProtKB:Q9BZ23#VAR_015169,OMIM:606157.0010	C1846582 607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val)	80025	PANK2	Pathogenic	rs761156912	RCV000796153;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899366	3899366	20:g.3899366A>G	-
NM_001386393.1(PANK2):c.1263G>A (p.Met421Ile)	80025	PANK2	Uncertain significance	rs1600571977	RCV000801618;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899374	3899374	20:g.3899374G>A	-
NM_001386393.1(PANK2):c.1265G>A (p.Arg422Gln)	80025	PANK2	Uncertain significance	-1	RCV002025673;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899376	3899376	3899376	-
NM_001386393.1(PANK2):c.1275A>G (p.Ala425_Tyr426=)	80025	PANK2	Likely benign	-1	RCV002646064;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899386	3899386	NC_000020.10:g.3899386A>G	-
NM_001386393.1(PANK2):c.1285G>T (p.Asp429Tyr)	80025	PANK2	Uncertain significance	-1	RCV003053958;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899396	3899396	NC_000020.10:g.3899396G>T	-
NM_001386393.1(PANK2):c.1309A>G (p.Lys437Glu)	80025	PANK2	Uncertain significance	-1	RCV001823508;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899420	3899420	3899420	-
NM_001386393.1(PANK2):c.1318T>C (p.Phe440Leu)	80025	PANK2	Uncertain significance	-1	RCV001988767;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899429	3899429	3899429	-
NM_001386393.1(PANK2):c.1322C>T (p.Ser441Leu)	80025	PANK2	Uncertain significance	-1	RCV001989494;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899433	3899433	3899433	-
NM_001386393.1(PANK2):c.1323G>A (p.Ser441=)	80025	PANK2	Likely benign	rs776868989	RCV001315039;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899434	3899434	3899434	-
NM_001386393.1(PANK2):c.1332+10C>T	80025	PANK2	Likely benign	-1	RCV002133305;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899453	3899453	3899453	-
NM_001386393.1(PANK2):c.1332+16C>A	80025	PANK2	Benign	-1	RCV002122652;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899459	3899459	3899459	-
NM_001386393.1(PANK2):c.1332+17G>A	80025	PANK2	Likely benign	-1	RCV003071087;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899460	3899460	NC_000020.10:g.3899460G>A	-
NM_001386393.1(PANK2):c.1332+20G>A	80025	PANK2	Likely benign	-1	RCV002081298;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3899463	3899463	3899463	-
NM_001386393.1(PANK2):c.1333-29_1333-8del	80025	PANK2	Uncertain significance	-1	RCV002967881;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3903860	3903881	NC_000020.10:g.3903862_3903883del	-
NM_001386393.1(PANK2):c.1333-16G>T	80025	PANK2	Likely benign	-1	RCV002640674;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3903875	3903875	NC_000020.10:g.3903875G>T	-
NM_001386393.1(PANK2):c.1333-12A>G	80025	PANK2	Likely benign	-1	RCV002183994;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3903879	3903879	3903879	-
NM_001386393.1(PANK2):c.1336T>C (p.Tyr446His)	80025	PANK2	Uncertain significance	rs2090674561	RCV001215873;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3903894	3903894	20:g.3903894T>C	-
NM_001386393.1(PANK2):c.1352_1371del (p.Gly451fs)	80025	PANK2	Pathogenic	rs2090674600	RCV001056669;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3903901	3903920	20:g.3903901_3903920del	-
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr)	80025	PANK2	Uncertain significance	rs886056652	RCV000361496;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3903912	3903912	NC_000020.10:g.3903912G>A	ClinGen:CA10649679	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.1368G>A (p.Leu456_Leu457=)	80025	PANK2	Likely benign	-1	RCV002761602;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3903926	3903926	NC_000020.10:g.3903926G>A	-
NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter)	80025	PANK2	Uncertain significance	-1	RCV002627364;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3903928	3903928	NC_000020.10:g.3903928T>A	-
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu)	80025	PANK2	Conflicting interpretations of pathogenicity	rs41279408	RCV000690887\|RCV000764234\|RCV001815429;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850; MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855\|MedGen:CN517202	20	3903937	3903937	NC_000020.10:g.3903937C>T	-	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.1380G>A (p.Pro460_Ter461=)	80025	PANK2	Likely benign	-1	RCV002895568;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3903938	3903938	NC_000020.10:g.3903938G>A	-
NM_001386393.1(PANK2):c.*40G>C	80025	PANK2	Likely pathogenic	rs1131692166	RCV000495834;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3903981	3903981	20:g.3903981G>C	ClinGen:CA645372658	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.*63dup	80025	PANK2	Likely benign	rs143725982	RCV000266858;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3903997	3903998	NC_000020.10:g.3904004dupT	ClinGen:CA10649680	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.*218A>G	80025	PANK2	Benign/Likely benign	rs71647860	RCV000326588\|RCV001590987;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850\|MedGen:CN517202	20	3904159	3904159	NC_000020.10:g.3904159A>G	ClinGen:CA10643834	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.*376A>G	80025	PANK2	Uncertain significance	rs746515620	RCV000381177;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3904317	3904317	NC_000020.10:g.3904317A>G	ClinGen:CA10652504	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.*382C>T	80025	PANK2	Uncertain significance	rs71647861	RCV000272663;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3904323	3904323	NC_000020.10:g.3904323C>T	ClinGen:CA10649683	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.*391C>G	80025	PANK2	Uncertain significance	rs1273989006	RCV001141566;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3904332	3904332	20:g.3904332C>G	-
NM_001386393.1(PANK2):c.*407A>G	80025	PANK2	Uncertain significance	rs886056654	RCV000327941;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3904348	3904348	NC_000020.10:g.3904348A>G	ClinGen:CA10652506	C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.*468T>C	80025	PANK2	Uncertain significance	rs541731517	RCV001141567;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3904409	3904409	20:g.3904409T>C	-
NM_001386393.1(PANK2):c.*534A>G	80025	PANK2	Uncertain significance	rs780398812	RCV001141568;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3904475	3904475	20:g.3904475A>G	-
NM_001386393.1(PANK2):c.*541C>T	80025	PANK2	Uncertain significance	rs886056655	RCV000387153;	N	MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850	20	3904482	3904482	NC_000020.10:g.3904482C>T	ClinGen:CA10653107	C0018523 234200 Pigmentary pallidal degeneration;

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