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
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:Degeneration, Pigmentary Pallidal |Dystrophies, Juvenile-Onset Neuroaxonal |Dystrophy, Juvenile-Onset Neuroaxonal |Hallervorden Spatz Disease |Hallervorden-Spatz Disease |Hallervorden Spatz Syndrome |Hallervorden-Spatz Syndrome |Juvenile-Onset Neuroaxonal Dystr
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: D006211
MeSH: D006211
OMIM: 234200;
MSeqDR LSDB:  
Genes: PANK2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0007256Abnormal pyramidal signs
3 HP:0001760Abnormality of the foot
4 HP:0001927Acanthocytosis
5 HP:0002304Akinesia
6 HP:0001251Ataxia
7 HP:0000643Blepharospasm
8 HP:0002067Bradykinesia
9 HP:0007313Cerebral degeneration
10 HP:0001266Choreoathetosis
11 HP:0003199Decreased muscle mass
12 HP:0000726Dementia
NAMDC:  Dementia
13 HP:0000716Depressivity
NAMDC:  Depression
14 HP:0001260Dysarthria
NAMDC:  Dysarthria
15 HP:0002015Dysphagia
NAMDC:  Dysphagia
16 HP:0001618Dysphonia
17 HP:0002454Eye of the tiger anomaly of globus pallidus
18 HP:0000658Eyelid apraxia
19 HP:0000273Facial grimacing
20 HP:0008872Feeding difficulties in infancy
21 HP:0001288Gait disturbance
22 HP:0002283Global brain atrophy
23 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
24 HP:0001263Global developmental delay
NAMDC:  Mental retardation
25 HP:0000752Hyperactivity
26 HP:0000953Hyperpigmentation of the skin
27 HP:0100034Motor tics
28 HP:0003198Myopathy
NAMDC:  Myopathy
29 HP:0002180Neurodegeneration
30 HP:0008770Obsessive-compulsive trait
31 HP:0000648Optic atrophy
32 HP:0002310Orofacial dyskinesia
33 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
34 HP:0000580Pigmentary retinopathy
NAMDC:  Pigmentary retinopathy
35 HP:0003678Rapidly progressive
36 HP:0000546Retinal degeneration
37 HP:0002063Rigidity
38 HP:0001257Spasticity
NAMDC:  Spasticity
39 HP:0001337Tremor
40 HP:0000020Urinary incontinence
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000020.10:g.(?_1959939)_(6760201_?)dup-1covers 62 genes, none of which curated to show dosUncertain significance-1RCV003110989|RCV003122285; NMONDO:MONDO:0011299,MedGen:C1864112,OMIM:603218, Orphanet:157941|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502019599396760201-
NC_000020.11:g.3863511_3918336del-1MAVS;MIR103A2;PANK2Pathogenic-1RCV001250201; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038441583898983-1-
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)-1MIR103A2;MIR103B2;PANK2Pathogenic137852967RCV000004816|RCV000004817|RCV000132733|RCV001310448|RCV002512773; YMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C2751506|MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855|MedGen:C3661900|MeSH:D030342,MedGen:C0950123203899364389936420:g.3899364C>TClinGen:CA116923,UniProtKB:Q9BZ23#VAR_015169,OMIM:606157.0010C1846582 607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;
NC_000020.11:g.(?_3889081)_(3912654_?)del80025PANK2Pathogenic-1RCV000631207; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038697283893301-C0018523 234200 Pigmentary pallidal degeneration;
NM_153638.4(PANK2):c.-11G>A80025PANK2Benign/Likely benign71647826RCV000365190|RCV000365814|RCV000675586; NMedGen:CN169374|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C3661900203869737386973720:g.3869737G>AClinGen:CA9750451CN517202 not provided;
NC_000020.10:g.(?_3869748)_(3891497_?)del80025PANK2Pathogenic-1RCV003113764; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038697483891497-
NC_000020.10:g.(?_3869748)_(3893301_?)dup80025PANK2Uncertain significance-1RCV003113766; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038697483893301-
NM_153638.4(PANK2):c.9G>T (p.Arg3Ser)80025PANK2Uncertain significance1211425299RCV000687659|RCV002544786; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MeSH:D030342,MedGen:C09501232038697563869756NC_000020.10:g.3869756G>T-C0018523 234200 Pigmentary pallidal degeneration;
NM_153638.4(PANK2):c.12C>T (p.Leu4=)80025PANK2Conflicting interpretations of pathogenicity774784800RCV000278980|RCV001454628; NMedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038697593869759ClinGen:CA9750454CN169374 not specified;
NM_153638.4(PANK2):c.14G>A (p.Gly5Glu)80025PANK2Uncertain significance-1RCV002629673; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038697613869761NC_000020.10:g.3869761G>A-
NM_153638.4(PANK2):c.30C>T (p.Arg10=)80025PANK2Likely benign-1RCV003085376; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038697773869777-
NM_153638.4(PANK2):c.31G>A (p.Val11Ile)80025PANK2Uncertain significance886044063RCV000345784|RCV001859692; NMedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203869778386977820:g.3869778G>AClinGen:CA10606301CN169374 not specified;
NM_153638.4(PANK2):c.34C>T (p.His12Tyr)80025PANK2Likely benign374286033RCV001203887; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203869781386978120:g.3869781C>T-
NM_153638.4(PANK2):c.42_67del (p.Ala15fs)80025PANK2Conflicting interpretations of pathogenicity760822872RCV000479319|RCV001731712; NMedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038697843869809NC_000020.10:g.3869789_3869814delClinGen:CA9750459
NM_153638.4(PANK2):c.37T>C (p.Trp13Arg)80025PANK2Uncertain significance971003044RCV000800323; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203869784386978420:g.3869784T>C-
NM_153638.4(PANK2):c.38G>A (p.Trp13Ter)80025PANK2Uncertain significance-1RCV002599153; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038697853869785NC_000020.10:g.3869785G>A-
NM_153638.4(PANK2):c.48G>A (p.Pro16=)80025PANK2Likely benign982359150RCV002096888; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038697953869795-
NM_153638.4(PANK2):c.54A>G (p.Ser18=)80025PANK2Conflicting interpretations of pathogenicity886056650RCV000383282; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038698013869801ClinGen:CA10643832C0018523 234200 Pigmentary pallidal degeneration;
NM_153638.4(PANK2):c.55C>T (p.Leu19Phe)80025PANK2Uncertain significance1568549056RCV001927977; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020386980238698023869802-
NM_153638.4(PANK2):c.58T>C (p.Ser20Pro)80025PANK2Uncertain significance-1RCV003056792; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038698053869805NC_000020.10:g.3869805T>C-
NM_153638.4(PANK2):c.66G>T (p.Gly22=)80025PANK2Likely benign144707315RCV001485158; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038698133869813-
NM_153638.4(PANK2):c.66G>A (p.Gly22=)80025PANK2Likely benign-1RCV003083289; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038698133869813-
NM_153638.4(PANK2):c.79C>A (p.Leu27Ile)80025PANK2Uncertain significance1427393180RCV002038366; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020386982638698263869826-
NM_153638.4(PANK2):c.95C>T (p.Thr32Ile)80025PANK2Uncertain significance530609127RCV001870953|RCV002551084; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MeSH:D030342,MedGen:C095012320386984238698423869842-
NM_153638.4(PANK2):c.96C>T (p.Thr32=)80025PANK2Conflicting interpretations of pathogenicity398124549RCV000082680|RCV002514447; NMedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038698433869843ClinGen:CA224202CN169374 not specified;
NM_153638.4(PANK2):c.99G>A (p.Arg33=)80025PANK2Likely benign-1RCV002711973; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038698463869846-
NM_153638.4(PANK2):c.104C>T (p.Pro35Leu)80025PANK2Uncertain significance769505139RCV001138861; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203869851386985120:g.3869851C>T-
NM_153638.4(PANK2):c.113C>A (p.Thr38Asn)80025PANK2Uncertain significance1426406978RCV001962311; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020386986038698603869860-
NM_153638.4(PANK2):c.114C>T (p.Thr38=)80025PANK2Likely benign200506776RCV002108478; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038698613869861-
NM_153638.4(PANK2):c.117C>A (p.Thr39=)80025PANK2Likely benign-1RCV002643010; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038698643869864-
NM_153638.4(PANK2):c.118C>T (p.Leu40Phe)80025PANK2Uncertain significance-1RCV003075506; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038698653869865NC_000020.10:g.3869865C>T-
NM_153638.4(PANK2):c.126del (p.Arg44fs)80025PANK2Uncertain significance1600474748RCV000796539; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203869873386987320:g.3869873_3869873del-
NM_153638.4(PANK2):c.129C>T (p.Pro43=)80025PANK2Likely benign-1RCV002647355; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038698763869876-
NM_153638.4(PANK2):c.131G>T (p.Arg44Leu)80025PANK2Uncertain significance200253730RCV000371598|RCV001859667; NMedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203869878386987820:g.3869878G>TClinGen:CA9750494CN169374 not specified;
NM_153638.4(PANK2):c.137A>T (p.Asp46Val)80025PANK2Benign/Likely benign148036492RCV000488345|RCV001081909|RCV002282169; NMedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN169374203869884386988420:g.3869884A>TClinGen:CA9750496CN517202 not provided;
NM_153638.4(PANK2):c.159C>T (p.Gly53=)80025PANK2Conflicting interpretations of pathogenicity1485088384RCV000997738|RCV001858861; NMedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038699063869906-
NM_153638.4(PANK2):c.160A>G (p.Thr54Ala)80025PANK2Uncertain significance2146803538RCV002050642; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020386990738699073869907-
NM_153638.4(PANK2):c.172C>T (p.Pro58Ser)80025PANK2Uncertain significance-1RCV002597612; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038699193869919NC_000020.10:g.3869919C>T-
NM_153638.4(PANK2):c.187C>T (p.Pro63Ser)80025PANK2Uncertain significance1452787032RCV001911636; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020386993438699343869934-
NM_153638.4(PANK2):c.200A>C (p.Glu67Ala)80025PANK2Uncertain significance2146803693RCV002039959; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020386994738699473869947-
NM_153638.4(PANK2):c.209G>C (p.Gly70Ala)80025PANK2Uncertain significance-1RCV003082235|RCV003274228; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MeSH:D030342,MedGen:C09501232038699563869956NC_000020.10:g.3869956G>C-
NM_153638.4(PANK2):c.219A>G (p.Pro73=)80025PANK2Likely benign-1RCV002790324; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038699663869966-
NM_153638.4(PANK2):c.239C>T (p.Pro80Leu)80025PANK2Uncertain significance752820848RCV001925254; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020386998638699863869986-
NM_153638.4(PANK2):c.245G>A (p.Arg82His)80025PANK2Uncertain significance995058151RCV001974516; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020386999238699923869992-
NM_153638.4(PANK2):c.272C>T (p.Pro91Leu)80025PANK2Uncertain significance757651957RCV000293560; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870019387001920:g.3870019C>TClinGen:CA10652502C0018523 234200 Pigmentary pallidal degeneration;
NM_153638.4(PANK2):c.272C>G (p.Pro91Arg)80025PANK2Uncertain significance757651957RCV001301748; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387001938700193870019-
NM_153638.4(PANK2):c.276G>A (p.Arg92=)80025PANK2Benign/Likely benign142832849RCV000513379|RCV000517643|RCV001085459; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038700233870023ClinGen:CA9750520CN517202 not provided;
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)80025PANK2Conflicting interpretations of pathogenicity199680057RCV000359501|RCV001141449; NMedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870027387002720:g.3870027C>GClinGen:CA9750523CN169374 not specified;
NM_153638.4(PANK2):c.280C>A (p.Arg94Ser)80025PANK2Uncertain significance-1RCV002886329; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038700273870027NC_000020.10:g.3870027C>A-
NM_153638.4(PANK2):c.281G>C (p.Arg94Pro)80025PANK2Benign/Likely benign71647827RCV000348430|RCV000712503; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C3661900203870028387002820:g.3870028G>CClinGen:CA9750525,UniProtKB:Q9BZ23#VAR_054484C0018523 234200 Pigmentary pallidal degeneration;
NM_153638.4(PANK2):c.283C>A (p.Leu95Ile)80025PANK2Uncertain significance558404718RCV001141450|RCV001310446; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C3661900203870030387003020:g.3870030C>A-
NM_153638.4(PANK2):c.283C>T (p.Leu95Phe)80025PANK2Uncertain significance558404718RCV001316830|RCV001573141; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C366190020387003038700303870030-
NM_153638.4(PANK2):c.285C>T (p.Leu95=)80025PANK2Likely benign573252413RCV002107613; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038700323870032-
NM_001386393.1(PANK2):c.-40T>C80025PANK2Likely benign555683860RCV000981545; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870038387003820:g.3870038T>C-
NM_001386393.1(PANK2):c.-40T>G80025PANK2Likely benign-1RCV002624860; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038700383870038NC_000020.10:g.3870038T>G-
NM_001386393.1(PANK2):c.-32C>T80025PANK2Uncertain significance1441505244RCV001954610; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387004638700463870046-
NM_001386393.1(PANK2):c.-31T>G80025PANK2Likely benign-1RCV003065539; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038700473870047NC_000020.10:g.3870047T>G-
NM_001386393.1(PANK2):c.-29C>T80025PANK2Uncertain significance573948434RCV001141451; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870049387004920:g.3870049C>T-
NM_001386393.1(PANK2):c.-29C>G80025PANK2Uncertain significance-1RCV003067411; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038700493870049NC_000020.10:g.3870049C>G-
NM_001386393.1(PANK2):c.-28C>T80025PANK2Conflicting interpretations of pathogenicity544239478RCV001141452; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870050387005020:g.3870050C>T-
NM_001386393.1(PANK2):c.-22G>C80025PANK2Uncertain significance-1RCV003060350; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038700563870056NC_000020.10:g.3870056G>C-
NM_001386393.1(PANK2):c.-21G>T80025PANK2Pathogenic/Likely pathogenic780551883RCV000357905|RCV002469097; NMedGen:CN517202|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870057387005720:g.3870057G>TClinGen:CA10604867C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.-21G>A80025PANK2Uncertain significance780551883RCV001911311; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387005738700573870057-
NM_001386393.1(PANK2):c.-20A>C80025PANK2Uncertain significance748780222RCV001922807; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387005838700583870058-
NM_001386393.1(PANK2):c.-16G>A80025PANK2Likely benign-1RCV002622508; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038700623870062NC_000020.10:g.3870062G>A-
NM_001386393.1(PANK2):c.-11G>A80025PANK2Uncertain significance-1RCV002971798; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038700673870067NC_000020.10:g.3870067G>A-
NM_001386393.1(PANK2):c.-10G>A80025PANK2Uncertain significance771710781RCV001141453; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870068387006820:g.3870068G>A-
NM_001386393.1(PANK2):c.-5C>T80025PANK2Uncertain significance746763863RCV000678821|RCV001861861; NMedGen:CN169374|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870073387007320:g.3870073C>T-CN169374 not specified;
NM_001386393.1(PANK2):c.-3A>C80025PANK2Uncertain significance-1RCV002810892; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038700753870075NC_000020.10:g.3870075A>C-
NM_001386393.1(PANK2):c.2T>A80025PANK2Benign/Likely benign71647828RCV000173580|RCV000401983|RCV000675587; NMedGen:CN169374|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C3661900203870079387007920:g.3870079T>AClinGen:CA200628,UniProtKB:Q9BZ23#VAR_015152CN517202 not provided;
NM_001386393.1(PANK2):c.5G>A (p.Gly2Glu)80025PANK2Uncertain significance774558831RCV001653001|RCV001903934; NMedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387008238700823870082-
NM_001386393.1(PANK2):c.7G>A (p.Gly3Ser)80025PANK2Uncertain significance1432572102RCV001941151; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387008438700843870084-
NM_001386393.1(PANK2):c.8G>T (p.Gly3Val)80025PANK2Uncertain significance1268207892RCV001317637; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387008538700853870085-
NM_001386393.1(PANK2):c.11T>C (p.Leu4Ser)80025PANK2Uncertain significance2090073827RCV001143294; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870088387008820:g.3870088T>C-
NM_001386393.1(PANK2):c.17G>C (p.Gly6Ala)80025PANK2Uncertain significance767712182RCV001876362|RCV002547915; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MeSH:D030342,MedGen:C095012320387009438700943870094-
NM_001386393.1(PANK2):c.18G>A (p.Gly6=)80025PANK2Conflicting interpretations of pathogenicity750766653RCV000893261; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870095387009520:g.3870095G>A-
NM_001386393.1(PANK2):c.20G>A (p.Arg7Gln)80025PANK2Uncertain significance911560228RCV001319285; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387009738700973870097-
NM_001386393.1(PANK2):c.21_22delinsTT (p.Gln8Ter)80025PANK2Uncertain significance2146804492RCV001988385; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387009838700993870098-
NM_001386393.1(PANK2):c.25C>T (p.Arg9Ter)80025PANK2Uncertain significance944348405RCV001216862|RCV001529170; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN517202203870102387010220:g.3870102C>T-
NM_001386393.1(PANK2):c.25C>G (p.Arg9Gly)80025PANK2Uncertain significance944348405RCV002027676; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387010238701023870102-
NM_001386393.1(PANK2):c.33G>A (p.Leu11=)80025PANK2Likely benign-1RCV003093545; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038701103870110-
NM_001386393.1(PANK2):c.37C>T (p.Arg13Trp)80025PANK2Uncertain significance752138761RCV002042536; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387011438701143870114-
NM_001386393.1(PANK2):c.39G>A (p.Arg13=)80025PANK2Likely benign1327793374RCV002539397; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870116387011620:g.3870116G>A-
NM_001386393.1(PANK2):c.40A>G (p.Met14Val)80025PANK2Uncertain significance1368727421RCV002252994|RCV003094116; N|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387011738701173870117-
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala)80025PANK2Benign3737084RCV000082679|RCV000313320|RCV000675588|RCV001787900; NMedGen:CN169374|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C3661900|MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855203870124387012420:g.3870124G>CClinGen:CA149584,UniProtKB:Q9BZ23#VAR_015153CN517202 not provided;
NM_001386393.1(PANK2):c.47G>A (p.Gly16Glu)80025PANK2Likely benign-1RCV003078287; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038701243870124NC_000020.10:g.3870124G>A-
NM_001386393.1(PANK2):c.49G>A (p.Gly17Ser)80025PANK2Uncertain significance1214737069RCV001877381; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387012638701263870126-
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val)80025PANK2Benign/Likely benign528149001RCV000393838|RCV000631203|RCV001697650; NMedGen:CN169374|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C3661900203870127387012720:g.3870127G>TClinGen:CA9750566CN169374 not specified;
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln)80025PANK2Conflicting interpretations of pathogenicity546381069RCV000631205|RCV002282271; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN169374203870130387013020:g.3870130G>AClinGen:CA9750569C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.54G>C (p.Arg18=)80025PANK2Uncertain significance930563925RCV001143295; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870131387013120:g.3870131G>C-
NM_001386393.1(PANK2):c.55C>T (p.Leu19Phe)80025PANK2Likely benign772205776RCV001905248; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387013238701323870132-
NM_001386393.1(PANK2):c.55C>G (p.Leu19Val)80025PANK2Uncertain significance772205776RCV001941442; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387013238701323870132-
NM_001386393.1(PANK2):c.66C>T (p.Pro22=)80025PANK2Uncertain significance754198411RCV001143296; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870143387014320:g.3870143C>T-
NM_001386393.1(PANK2):c.67A>G (p.Met23Val)80025PANK2Pathogenic2146804825RCV001420152; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387014438701443870144-
NM_001386393.1(PANK2):c.67A>C (p.Met23Leu)80025PANK2Uncertain significance2146804825RCV002001728; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387014438701443870144-
NM_001386393.1(PANK2):c.73C>T (p.Arg25Cys)80025PANK2Uncertain significance-1RCV002821036; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038701503870150NC_000020.10:g.3870150C>T-
NM_001386393.1(PANK2):c.78C>A (p.His26Gln)80025PANK2Uncertain significance2090076533RCV001997206; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387015538701553870155-
NM_001386393.1(PANK2):c.99C>T (p.Ser33=)80025PANK2Likely benign-1RCV002647925; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038701763870176-
NM_001386393.1(PANK2):c.100G>T (p.Val34Phe)80025PANK2Uncertain significance547164263RCV002006688; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387017738701773870177-
NM_001386393.1(PANK2):c.108G>C (p.Ser36=)80025PANK2Likely benign1037083433RCV000905896|RCV002275175; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C3661900203870185387018520:g.3870185G>C-
NM_001386393.1(PANK2):c.108G>A (p.Ser36=)80025PANK2Likely benign-1RCV003053262; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038701853870185-
NM_001386393.1(PANK2):c.115G>T (p.Glu39Ter)80025PANK2Pathogenic528889529RCV001206525; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870192387019220:g.3870192G>T-
NM_001386393.1(PANK2):c.115G>A (p.Glu39Lys)80025PANK2Uncertain significance528889529RCV001925178; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387019238701923870192-
NM_001386393.1(PANK2):c.116A>G (p.Glu39Gly)80025PANK2Uncertain significance-1RCV003019024; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038701933870193NC_000020.10:g.3870193A>G-
NM_001386393.1(PANK2):c.118C>A (p.Gln40Lys)80025PANK2Uncertain significance1421161193RCV001919460; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387019538701953870195-
NM_001386393.1(PANK2):c.119A>G (p.Gln40Arg)80025PANK2Uncertain significance-1RCV002624715|RCV002651265; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038701963870196NC_000020.10:g.3870196A>G-
NM_001386393.1(PANK2):c.132C>T (p.Asp44=)80025PANK2Benign781106176RCV000676173|RCV001519497; NMedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038702093870209NC_000020.10:g.3870209C>T-CN517202 not provided;
NM_001386393.1(PANK2):c.133C>T (p.Pro45Ser)80025PANK2Uncertain significance745590703RCV001962777; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387021038702103870210-
NM_001386393.1(PANK2):c.141_155dup (p.Pro52_Leu53insArgArgGlnGluPro)80025PANK2Uncertain significance-1RCV002623427; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038702173870218NC_000020.10:g.3870218_3870232dup-
NM_001386393.1(PANK2):c.141G>T (p.Gly47=)80025PANK2Likely benign-1RCV002881259; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038702183870218-
NM_001386393.1(PANK2):c.142C>G (p.Arg48Gly)80025PANK2Uncertain significance1416234460RCV000690316; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038702193870219NC_000020.10:g.3870219C>G-C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.157C>T (p.Leu53=)80025PANK2Likely benign-1RCV002908353; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038702343870234-
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs)80025PANK2Pathogenic/Likely pathogenic755653150RCV000598553|RCV000990270|RCV002506443; NMedGen:CN517202|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:157855203870251387025820:g.3870251_3870258delClinGen:CA9750591CN517202 not provided;
NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr)80025PANK2Uncertain significance1568550594RCV000732725|RCV001855692; NMedGen:CN517202|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038702533870254NC_000020.10:g.3870253_3870254delinsCT-
NM_001386393.1(PANK2):c.180G>A (p.Ala60=)80025PANK2Likely benign1167325149RCV002101967; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387025738702573870257-
NM_001386393.1(PANK2):c.182C>T (p.Ser61Leu)80025PANK2Uncertain significance1375502090RCV001930068; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387025938702593870259-
NM_001386393.1(PANK2):c.183G>T (p.Ser61=)80025PANK2Likely benign966862550RCV002180025; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387026038702603870260-
NM_001386393.1(PANK2):c.189C>G (p.Pro63=)80025PANK2Benign/Likely benign71647829RCV000335556|RCV000676174; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C3661900203870266387026620:g.3870266C>GClinGen:CA9750595CN517202 not provided;
NM_001386393.1(PANK2):c.189C>T (p.Pro63=)80025PANK2Likely benign71647829RCV002161224; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387026638702663870266-
NM_001386393.1(PANK2):c.198G>A (p.Gly66=)80025PANK2Likely benign751025789RCV002547253; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870275387027520:g.3870275G>A-
NM_001386393.1(PANK2):c.201C>T (p.Ala67=)80025PANK2Likely benign756936934RCV000675589|RCV002532169; NMedGen:CN517202|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870278387027820:g.3870278C>T-CN517202 not provided;
NM_001386393.1(PANK2):c.201C>A (p.Ala67=)80025PANK2Likely benign756936934RCV002081291; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387027838702783870278-
NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter)80025PANK2Pathogenic137852969RCV000004823; YMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870280387028020:g.3870280C>AClinGen:CA253224,OMIM:606157.0015C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.203C>T (p.Ser68Leu)80025PANK2Uncertain significance137852969RCV001338030|RCV003331121; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN16937420387028038702803870280-
NM_001386393.1(PANK2):c.204G>C (p.Ser68=)80025PANK2Likely benign767219073RCV002150164; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387028138702813870281-
NM_001386393.1(PANK2):c.207T>A (p.Ala69=)80025PANK2Likely benign750266345RCV002035768; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387028438702843870284-
NM_001386393.1(PANK2):c.215C>A (p.Thr72Lys)80025PANK2Uncertain significance755932521RCV000810780; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870292387029220:g.3870292C>A-
NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs)80025PANK2Pathogenic-1RCV002510609|RCV003138286; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN5172022038702923870293NC_000020.10:g.3870292_3870293insA-
NM_001386393.1(PANK2):c.233G>C (p.Gly78Ala)80025PANK2Uncertain significance1380924374RCV000798597; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870310387031020:g.3870310G>C-
NM_001386393.1(PANK2):c.233G>T (p.Gly78Val)80025PANK2Uncertain significance1380924374RCV001933574|RCV003355663; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MeSH:D030342,MedGen:C095012320387031038703103870310-
NM_001386393.1(PANK2):c.236C>T (p.Ser79Phe)80025PANK2Uncertain significance-1RCV002726898; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038703133870313NC_000020.10:g.3870313C>T-
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer)80025PANK2Pathogenic/Likely pathogenic1600477446RCV000990271|RCV002245821|RCV002252289; NMONDO: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|203870316387031720:g.3870316_3870317del-
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)80025PANK2Pathogenic137852960RCV000004809; YMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870317387031720:g.3870317C>GClinGen:CA253209,OMIM:606157.0003C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.243del (p.Ser81fs)80025PANK2Pathogenic916725028RCV001049500|RCV001268830; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN517202203870320387032020:g.3870320_3870320del-
NM_001386393.1(PANK2):c.252C>T (p.Thr84=)80025PANK2Likely benign-1RCV002676927; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038703293870329-
NM_001386393.1(PANK2):c.255G>T (p.Ser85=)80025PANK2Conflicting interpretations of pathogenicity375741383RCV000952180|RCV002462235; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C3661900203870332387033220:g.3870332G>T-
NM_001386393.1(PANK2):c.255G>A (p.Ser85=)80025PANK2Uncertain significance375741383RCV001136716; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870332387033220:g.3870332G>A-
NM_001386393.1(PANK2):c.258C>G (p.Val86=)80025PANK2Conflicting interpretations of pathogenicity746054643RCV000912721; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870335387033520:g.3870335C>G-
NM_001386393.1(PANK2):c.275A>G (p.Glu92Gly)80025PANK2Uncertain significance775816922RCV001916391; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387035238703523870352-
NM_001386393.1(PANK2):c.291G>A (p.Lys97=)80025PANK2Likely benign764439399RCV002191600|RCV002505868; NMONDO: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:15785520387036838703683870368-
NM_001386393.1(PANK2):c.294G>A (p.Arg98=)80025PANK2Conflicting interpretations of pathogenicity1443740202RCV000591482|RCV002062067; NMedGen:CN517202|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870371387037120:g.3870371G>AClinGen:CA509428107CN169374 not specified;
NM_001386393.1(PANK2):c.298+2dup80025PANK2Uncertain significance1309365137RCV001529730|RCV002568878; NMedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020387037638703773870376-
NM_001386393.1(PANK2):c.298+3_298+6del80025PANK2Uncertain significance-1RCV002735127; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038703763870379NC_000020.10:g.3870378_3870381del-
NM_001386393.1(PANK2):c.298+10C>T80025PANK2Conflicting interpretations of pathogenicity755815669RCV001136717; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870385387038520:g.3870385C>T-
NM_001386393.1(PANK2):c.298+15G>C80025PANK2Conflicting interpretations of pathogenicity566953264RCV000391971; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203870390387039020:g.3870390G>CClinGen:CA9750620C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.298+18C>T80025PANK2Likely benign-1RCV002627647; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038703933870393NC_000020.10:g.3870393C>T-
NC_000020.10:g.(?_3888553)_(3888945_?)del80025PANK2Pathogenic-1RCV003113763; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038885533888945-
NM_001386393.1(PANK2):c.299-14del80025PANK2Benign-1RCV003080324; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038885553888555NC_000020.10:g.3888559del-
NM_001386393.1(PANK2):c.299-9C>G80025PANK2Likely benign2090412291RCV001934431; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388856438885643888564-
GRCh37/hg19 20p13(chr20:3888573-3888925)80025PANK2Pathogenic-1RCV001004091; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038885733888925-
NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu)80025PANK2Conflicting interpretations of pathogenicity762879569RCV000493982|RCV000631200; NMedGen:CN517202|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203888588388858820:g.3888588G>AClinGen:CA9750673CN517202 not provided;
NM_001386393.1(PANK2):c.317dup (p.Asp107fs)80025PANK2Pathogenic2146859220RCV001965392; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388859038885913888590-
NM_001386393.1(PANK2):c.317T>A (p.Leu106Gln)80025PANK2Uncertain significance-1RCV002301950; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388859138885913888591-
NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu)80025PANK2Uncertain significance188211202RCV001806316; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388859638885963888596-
NM_001386393.1(PANK2):c.324C>T (p.Ile108=)80025PANK2Likely benign756145631RCV002219402; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388859838885983888598-
NM_001386393.1(PANK2):c.325G>A (p.Gly109Ser)80025PANK2Likely pathogenic-1RCV003226007; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038885993888599-
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys)80025PANK2Pathogenic1555787646RCV000544004|RCV002466529; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN517202203888624388862420:g.3888624A>GClinGen:CA408112247C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser)80025PANK2Pathogenic1360807330RCV001379451; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388862738886273888627-
NM_001386393.1(PANK2):c.358C>T (p.Pro120Ser)80025PANK2Uncertain significance2146859332RCV001964656; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388863238886323888632-
NM_001386393.1(PANK2):c.367A>G (p.Ile123Val)80025PANK2Uncertain significance2146859343RCV001992611; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388864138886413888641-
NM_001386393.1(PANK2):c.369C>A (p.Ile123=)80025PANK2Likely benign150594400RCV002109633; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388864338886433888643-
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala)80025PANK2Uncertain significance137852965RCV000004814|RCV001851655|RCV003234892; YMedGen:C2751506|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN169374203888644388864420:g.3888644A>GClinGen:CA116921,UniProtKB:Q9BZ23#VAR_015155,OMIM:606157.0008C2751506 Neurodegeneration with brain iron accumulation 1, atypical;
NM_001386393.1(PANK2):c.383A>G (p.Glu128Gly)80025PANK2Uncertain significance2090413830RCV001201697; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203888657388865720:g.3888657A>G-
NM_001386393.1(PANK2):c.384A>G (p.Glu128=)80025PANK2Likely benign1168477276RCV000631204|RCV001289111; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN5172022038886583888658NC_000020.10:g.3888658A>GClinGen:CA509422270C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.394G>C (p.Val132Leu)80025PANK2Uncertain significance-1RCV002695238; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038886683888668NC_000020.10:g.3888668G>C-
NM_001386393.1(PANK2):c.415_495dup (p.Arg139_Leu165dup)80025PANK2Uncertain significance1568569482RCV001216578; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203888688388868920:g.3888688_3888689insCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTG-
NM_001386393.1(PANK2):c.422A>G (p.Tyr141Cys)80025PANK2Uncertain significance-1RCV002720653; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038886963888696NC_000020.10:g.3888696A>G-
NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg)80025PANK2Uncertain significance2146859529RCV002277633; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388869938886993888699-
NM_001386393.1(PANK2):c.425T>A (p.Leu142Gln)80025PANK2Uncertain significance-1RCV002810292; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038886993888699NC_000020.10:g.3888699T>A-
NM_001386393.1(PANK2):c.434A>G (p.Asn145Ser)80025PANK2Uncertain significance143474105RCV002050620|RCV002543491; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MeSH:D030342,MedGen:C095012320388870838887083888708-
NM_001386393.1(PANK2):c.440_441insCT (p.Tyr148fs)80025PANK2Pathogenic1375490128RCV001999812; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388871438887153888714-
NM_001386393.1(PANK2):c.451A>G (p.Thr151Ala)80025PANK2Uncertain significance-1RCV003002047; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038887253888725NC_000020.10:g.3888725A>G-
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp)80025PANK2Likely pathogenic137852961RCV000004810|RCV002460885; YMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN517202203888734388873420:g.3888734C>TClinGen:CA253211,UniProtKB:Q9BZ23#VAR_015156,OMIM:606157.0004C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)80025PANK2Conflicting interpretations of pathogenicity368682034RCV001268386|RCV002252354|RCV002537709; NMedGen:CN517202||MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203888735388873520:g.3888735G>A-
NM_001386393.1(PANK2):c.466G>A (p.Val156Met)80025PANK2Uncertain significance753145257RCV000584963|RCV001853955; NMedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203888740388874020:g.3888740G>AClinGen:CA9750697CN517202 not provided;
NM_001386393.1(PANK2):c.474C>T (p.Leu158=)80025PANK2Likely benign572915908RCV001422044; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388874838887483888748-
NM_001386393.1(PANK2):c.475G>A (p.Glu159Lys)80025PANK2Uncertain significance778263915RCV000808841; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203888749388874920:g.3888749G>A-
NM_001386393.1(PANK2):c.489G>A (p.Leu163=)80025PANK2Benign/Likely benign71647837RCV000675591|RCV001079817; NMedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038887633888763NC_000020.10:g.3888763G>A-CN517202 not provided;
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs)80025PANK2Pathogenic750440690RCV001069094; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203888765388876620:g.3888765_3888766del-
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs)80025PANK2Likely pathogenic-1RCV003338055; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038887683888769-
NM_001386393.1(PANK2):c.502_503delinsAC (p.Arg168Thr)80025PANK2Uncertain significance-1RCV002926823; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038887763888777NC_000020.10:g.3888776_3888777delinsAC-
NM_001386393.1(PANK2):c.503G>A (p.Arg168His)80025PANK2Uncertain significance-1RCV002722010; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038887773888777NC_000020.10:g.3888777G>A-
NM_001386393.1(PANK2):c.506A>G (p.Lys169Arg)80025PANK2Uncertain significance975735144RCV001368328|RCV003227032; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C366190020388878038887803888780-
NM_001386393.1(PANK2):c.519C>A (p.His173Gln)80025PANK2Uncertain significance2090416889RCV001991576; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388879338887933888793-
NM_001386393.1(PANK2):c.521_525dup (p.Arg176fs)80025PANK2Pathogenic1600534514RCV000822290; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203888794388879520:g.3888794_3888795insTTATA-
NM_001386393.1(PANK2):c.522T>C (p.Phe174=)80025PANK2Likely benign-1RCV002866089; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038887963888796-
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys)80025PANK2Pathogenic137852962RCV000004811; YMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203888800388880020:g.3888800C>TClinGen:CA253212,UniProtKB:Q9BZ23#VAR_015159,OMIM:606157.0005C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.566G>A (p.Gly189Asp)80025PANK2Uncertain significance975841680RCV001906588; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388884038888403888840-
NM_001386393.1(PANK2):c.579del (p.Phe194fs)80025PANK2Pathogenic1568569941RCV000703387; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203888853388885320:g.3888853_3888853del-C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.585G>A (p.Ser195=)80025PANK2Likely benign751910368RCV002202940; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388885938888593888859-
NM_001386393.1(PANK2):c.600_606del (p.Phe201fs)80025PANK2Pathogenic879253712RCV000004806; YMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038888713888877NC_000020.10:g.3888871_3888877delTGTCTTTClinGen:CA10575486,OMIM:606157.0001C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.600C>G (p.Val200=)80025PANK2Likely benign778032232RCV002186389; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388887438888743888874-
NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter)80025PANK2Pathogenic1555787799RCV000500586; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203888880388888020:g.3888880T>AClinGen:CA408112916C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.618T>G (p.Gly206=)80025PANK2Likely benign755691919RCV002105314; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388889238888923888892-
NM_001386393.1(PANK2):c.624G>A (p.Ala208=)80025PANK2Benign/Likely benign78631398RCV000300446|RCV002510879; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C36619002038888983888898NC_000020.10:g.3888898G>AClinGen:CA9750725C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.624G>T (p.Ala208=)80025PANK2Likely benign78631398RCV002173509; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388889838888983888898-
NM_001386393.1(PANK2):c.629A>G (p.Lys210Arg)80025PANK2Uncertain significance1159023197RCV002005730; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388890338889033888903-
NM_001386393.1(PANK2):c.632T>G (p.Phe211Cys)80025PANK2Uncertain significance-1RCV003153032; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038889063888906-
NM_001386393.1(PANK2):c.636G>A (p.Glu212=)80025PANK2Likely benign-1RCV002851097; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038889103888910-
NM_001386393.1(PANK2):c.651+3A>G80025PANK2Conflicting interpretations of pathogenicity1131691472RCV000494403|RCV001851354; NMedGen:CN517202|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203888928388892820:g.3888928A>GClinGen:CA645369748CN517202 not provided;
NM_001386393.1(PANK2):c.651+3A>C80025PANK2Uncertain significance1131691472RCV002025022; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388892838889283888928-
NM_001386393.1(PANK2):c.651+7A>G80025PANK2Likely benign-1RCV003009303; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038889323888932NC_000020.10:g.3888932A>G-
NM_001386393.1(PANK2):c.651+9T>C80025PANK2Likely benign1194885027RCV002177484; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020388893438889343888934-
NC_000020.10:g.(?_3891204)_(3893301_?)del80025PANK2Pathogenic-1RCV003113765; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038912043893301-
NM_001386393.1(PANK2):c.652-18A>C80025PANK2Benign200451247RCV002176419; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389120638912063891206-
NM_001386393.1(PANK2):c.652-16T>A80025PANK2Likely benign-1RCV003047926; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038912083891208NC_000020.10:g.3891208T>A-
NM_001386393.1(PANK2):c.652-2A>G80025PANK2Likely pathogenic-1RCV003338101; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038912223891222-
NM_001386393.1(PANK2):c.652-1G>C80025PANK2Pathogenic2146866687RCV001975059; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389122338912233891223-
NM_001386393.1(PANK2):c.652A>G (p.Ile218Val)80025PANK2Uncertain significance-1RCV002658962; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038912243891224NC_000020.10:g.3891224A>G-
NM_001386393.1(PANK2):c.655G>T (p.Gly219Cys)80025PANK2Uncertain significance2146866714RCV002017114; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389122738912273891227-
NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter)80025PANK2Pathogenic777414421RCV002266168; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389123638912363891236-
NM_001386393.1(PANK2):c.676C>T (p.Leu226=)80025PANK2Likely benign-1RCV002604921; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038912483891248-
NM_001386393.1(PANK2):c.694T>C (p.Leu232=)80025PANK2Conflicting interpretations of pathogenicity143090515RCV001138964; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203891266389126620:g.3891266T>C-
NM_001386393.1(PANK2):c.695T>C (p.Leu232Ser)80025PANK2Uncertain significance-1RCV003070979; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038912673891267NC_000020.10:g.3891267T>C-
NM_001386393.1(PANK2):c.701A>C (p.Lys234Thr)80025PANK2Uncertain significance774676518RCV002016145|RCV002548124; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MeSH:D030342,MedGen:C095012320389127338912733891273-
NM_001386393.1(PANK2):c.706A>G (p.Ile236Val)80025PANK2Uncertain significance2090454168RCV001359273|RCV003320830; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C366190020389127838912783891278-
NM_001386393.1(PANK2):c.710T>C (p.Leu237Ser)80025PANK2Uncertain significance-1RCV002816501; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038912823891282NC_000020.10:g.3891282T>C-
NM_001386393.1(PANK2):c.713A>T (p.Tyr238Phe)80025PANK2not provided-1RCV002509004; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038912853891285NC_000020.10:g.3891285A>T-
NM_001386393.1(PANK2):c.717T>C (p.Ile239=)80025PANK2Conflicting interpretations of pathogenicity1742717583RCV001138965; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203891289389128920:g.3891289T>C-
NM_001386393.1(PANK2):c.726C>T (p.Val242=)80025PANK2Likely benign375227097RCV002104174; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389129838912983891298-
NM_001386393.1(PANK2):c.728G>A (p.Gly243Glu)80025PANK2Uncertain significance2146866985RCV002001273; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389130038913003891300-
NM_001386393.1(PANK2):c.731T>G (p.Phe244Cys)80025PANK2Uncertain significance-1RCV003071658; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038913033891303NC_000020.10:g.3891303T>G-
NM_001386393.1(PANK2):c.734A>G (p.Asn245Ser)80025PANK2Uncertain significance746484727RCV000685837; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203891306389130620:g.3891306A>G-C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp)80025PANK2Pathogenic753376100RCV000414787|RCV001196627|RCV003401407; YHuman Phenotype Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746|MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203891311389131120:g.3891311C>TClinGen:CA9750761C0027746 Neurodegeneration;
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)80025PANK2Pathogenic/Likely pathogenic754521581RCV000990272|RCV003151260; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN517202203891312389131220:g.3891312G>C-
NM_001386393.1(PANK2):c.744A>C (p.Ser248=)80025PANK2Conflicting interpretations of pathogenicity778370524RCV000376324|RCV002519282; NMedGen:CN517202|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203891316389131620:g.3891316A>CClinGen:CA9750763CN169374 not specified;
NM_001386393.1(PANK2):c.752A>G (p.Tyr251Cys)80025PANK2Uncertain significance1568572918RCV000697750; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203891324389132420:g.3891324A>G-C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.755_758del (p.Tyr252fs)80025PANK2Pathogenic1600542260RCV000995828; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203891325389132820:g.3891325_3891328del-
NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter)80025PANK2Pathogenic1600542275RCV000995829; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203891328389132820:g.3891328C>A-
NM_001386393.1(PANK2):c.765C>G (p.Asn255Lys)80025PANK2Uncertain significance1427550015RCV000692561; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203891337389133720:g.3891337C>G-C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.767del (p.Pro256fs)80025PANK2Pathogenic753400880RCV000684919; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203891337389133720:g.3891337_3891337del-C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr)80025PANK2Likely pathogenic777624606RCV001420153; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389133838913383891338-
NM_001386393.1(PANK2):c.766C>G (p.Pro256Ala)80025PANK2Uncertain significance777624606RCV001922286; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389133838913383891338-
NM_001386393.1(PANK2):c.769G>T (p.Ala257Ser)80025PANK2Uncertain significance1568572979RCV000687658|RCV002544785; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MeSH:D030342,MedGen:C0950123203891341389134120:g.3891341G>T-C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.776C>G (p.Ser259Cys)80025PANK2Uncertain significance-1RCV002890660; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038913483891348NC_000020.10:g.3891348C>G-
NM_001386393.1(PANK2):c.780A>G (p.Glu260=)80025PANK2Conflicting interpretations of pathogenicity375501114RCV000345334|RCV001405934; NMedGen:CN517202|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203891352389135220:g.3891352A>GClinGen:CA9750769CN169374 not specified;
NM_001386393.1(PANK2):c.783G>A (p.Lys261=)80025PANK2Likely benign-1RCV002927380; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038913553891355-
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr)80025PANK2Conflicting interpretations of pathogenicity149907912RCV002468953; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038913573891357NC_000020.10:g.3891357G>A-
NM_001386393.1(PANK2):c.802G>T (p.Asp268Tyr)80025PANK2Uncertain significance-1RCV002979895; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038913743891374NC_000020.10:g.3891374G>T-
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly)80025PANK2Conflicting interpretations of pathogenicity562740927RCV000490498|RCV002229192; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN169374203891375389137520:g.3891375A>GClinGen:CA9750773C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.815C>T (p.Pro272Leu)80025PANK2Uncertain significance368002284RCV002005825; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389138738913873891387-
NM_001386393.1(PANK2):c.816G>A (p.Pro272=)80025PANK2Likely benign772119893RCV001398086; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389138838913883891388-
NM_001386393.1(PANK2):c.832dup (p.Val278fs)80025PANK2Pathogenic2090456897RCV001215748; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203891402389140320:g.3891402_3891403insG-
NM_001386393.1(PANK2):c.838A>G (p.Ile280Val)80025PANK2Uncertain significance-1RCV002756943; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038914103891410NC_000020.10:g.3891410A>G-
NM_001386393.1(PANK2):c.845C>T (p.Ser282Leu)80025PANK2Uncertain significance2090457090RCV001890260; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389141738914173891417-
NM_001386393.1(PANK2):c.846_847del (p.Gly283_Val284insTer)80025PANK2Pathogenic778550409RCV000529253|RCV003128624; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN5172022038914183891419NC_000020.10:g.3891418_3891419delClinGen:CA9750781C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.854G>A (p.Ser285Asn)80025PANK2Uncertain significance2146867465RCV001995817; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389142638914263891426-
NM_001386393.1(PANK2):c.865G>C (p.Val289Leu)80025PANK2Uncertain significance1011938873RCV001912368; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389143738914373891437-
NM_001386393.1(PANK2):c.868T>C (p.Tyr290His)80025PANK2Uncertain significance1183615976RCV001896748; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389144038914403891440-
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile)80025PANK2Pathogenic/Likely pathogenic752078407RCV000803081|RCV001815438; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN517202203891453389145320:g.3891453A>T-
NM_001386393.1(PANK2):c.882T>G (p.Asn294Lys)80025PANK2Uncertain significance758080048RCV001997854|RCV003319498; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C366190020389145438914543891454-
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp)80025PANK2Conflicting interpretations of pathogenicity1288629241RCV001289540; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389145538914553891455-
NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter)80025PANK2Pathogenic-1RCV003050551; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038914573891457NC_000020.10:g.3891457C>G-
NM_001386393.1(PANK2):c.887A>G (p.Lys296Arg)80025PANK2Uncertain significance763608502RCV002013887; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389145938914593891459-
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)80025PANK2Uncertain significance-1RCV003388770; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038914593891459-
NM_001386393.1(PANK2):c.905+1G>T80025PANK2Pathogenic1135401789RCV000496161; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203891478389147820:g.3891478G>TClinGen:CA408115849C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.905+1G>C80025PANK2Pathogenic1135401789RCV001331812; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389147838914783891478-
NM_001386393.1(PANK2):c.905+10A>T80025PANK2Likely benign-1RCV002624930; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038914873891487NC_000020.10:g.3891487A>T-
NM_001386393.1(PANK2):c.905+14A>T80025PANK2Likely benign745860566RCV002184973; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389149138914913891491-
NM_001386393.1(PANK2):c.905+18C>T80025PANK2Likely benign2146867647RCV002200896; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389149538914953891495-
NM_001386393.1(PANK2):c.906-99_929del80025PANK2Pathogenic2146872050RCV001954573; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389300238931243893001-
NM_001386393.1(PANK2):c.906-21_906-19del80025PANK2Likely benign-1RCV002912757; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038930833893085NC_000020.10:g.3893084_3893086del-
NM_001386393.1(PANK2):c.906-4A>C80025PANK2Likely benign761546373RCV002217416; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389310138931013893101-
NM_001386393.1(PANK2):c.906-2A>C80025PANK2Pathogenic1261714833RCV000631201; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038931033893103NC_000020.10:g.3893103A>CClinGen:CA408117112C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs)80025PANK2Pathogenic/Likely pathogenic1555788619RCV000631202; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038931183893119NC_000020.10:g.3893119_3893120dupClinGen:CA658799322C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.927del (p.Phe309fs)80025PANK2Pathogenic1568574931RCV000694769; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203893120389312020:g.3893120_3893120del-C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.923T>G (p.Phe308Cys)80025PANK2Uncertain significance2146872412RCV001901524; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389312238931223893122-
NM_001386393.1(PANK2):c.932T>G (p.Leu311Arg)80025PANK2Uncertain significance2146872437RCV001981220; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389313138931313893131-
NM_001386393.1(PANK2):c.944T>C (p.Leu315Pro)80025PANK2Pathogenic2146872522RCV001935746; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389314338931433893143-
NM_001386393.1(PANK2):c.946A>G (p.Thr316Ala)80025PANK2Uncertain significance-1RCV002979174; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038931453893145NC_000020.10:g.3893145A>G-
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr)80025PANK2Uncertain significance1012947103RCV000678589|RCV000733234|RCV001357487; NMONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000, Orphanet:65|MedGen:CN517202|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038931523893152NC_000020.10:g.3893152G>A-C0339527 Leber congenital amaurosis;
NM_001386393.1(PANK2):c.958A>G (p.Thr320Ala)80025PANK2Uncertain significance748901841RCV001924514|RCV002552857; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MeSH:D030342,MedGen:C095012320389315738931573893157-
NM_001386393.1(PANK2):c.960T>C (p.Thr320=)80025PANK2Benign149583615RCV000516536|RCV001520010; NMedGen:CN169374|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203893159389315920:g.3893159T>CClinGen:CA9750814CN169374 not specified;
NM_001386393.1(PANK2):c.971C>A (p.Ala324Asp)80025PANK2Uncertain significance1031848408RCV001984739; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389317038931703893170-
NM_001386393.1(PANK2):c.978A>G (p.Glu326=)80025PANK2Likely benign1427408420RCV002072523; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389317738931773893177-
NM_001386393.1(PANK2):c.987del (p.Arg330fs)80025PANK2Pathogenic544616523RCV000678590|RCV001861860; NHuman Phenotype Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970, Orphanet:1872|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038931863893186NC_000020.10:g.3893186del-C4085590 Cone-rod dystrophy;
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)80025PANK2Uncertain significance201329683RCV000355680|RCV002523160; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MeSH:D030342,MedGen:C09501232038931873893187NC_000020.10:g.3893187C>TClinGen:CA9750815C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.989G>A (p.Arg330His)80025PANK2Uncertain significance-1RCV002927888|RCV002927887; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038931883893188NC_000020.10:g.3893188G>A-
NM_001386393.1(PANK2):c.1002C>G (p.Thr334=)80025PANK2Likely benign2146872723RCV001499365; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389320138932013893201-
NM_001386393.1(PANK2):c.1009G>T (p.Asp337Tyr)80025PANK2Likely pathogenic-1RCV003389134; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038932083893208-
NM_001386393.1(PANK2):c.1010A>G (p.Asp337Gly)80025PANK2Uncertain significance1568575238RCV000695445|RCV003442036; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C36619002038932093893209NC_000020.10:g.3893209A>G-C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter)80025PANK2Pathogenic/Likely pathogenic1250997630RCV000826147|RCV003320762; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN517202203893220389322020:g.3893220C>T-
NM_001386393.1(PANK2):c.1024G>T (p.Asp342Tyr)80025PANK2Likely pathogenic1568575271RCV000702793; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038932233893223NC_000020.10:g.3893223G>T-C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly)80025PANK2Conflicting interpretations of pathogenicity763496520RCV001215749|RCV003132279; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C3661900203893224389322420:g.3893224A>G-
NM_001386393.1(PANK2):c.1038G>A (p.Gly346=)80025PANK2Likely benign768111750RCV001503448; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389323738932373893237-
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=)80025PANK2Conflicting interpretations of pathogenicity564606657RCV001138966; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203893264389326420:g.3893264C>G-
NM_001386393.1(PANK2):c.1068G>T (p.Trp356Cys)80025PANK2Uncertain significance767222898RCV001894352; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389326738932673893267-
NM_001386393.1(PANK2):c.1071T>C (p.Ala357=)80025PANK2Likely benign-1RCV002616255; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038932703893270-
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn)80025PANK2Likely pathogenic137852963RCV000004812; YMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203893281389328120:g.3893281G>AClinGen:CA253213,UniProtKB:Q9BZ23#VAR_015165,OMIM:606157.0006C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.1082+1G>C80025PANK2Likely pathogenic1600548506RCV000808102; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203893282389328220:g.3893282G>C-
NM_001386393.1(PANK2):c.1083-20T>C80025PANK2Likely benign767566162RCV002085225; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389755438975543897554-
NM_001386393.1(PANK2):c.1083-14_1083-9dup80025PANK2Benign10679953RCV000082678|RCV000302058|RCV000675594; NMedGen:CN169374|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN517202203897559389756020:g.3897559_3897560insTTCCCCClinGen:CA149583CN517202 not provided;
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT80025PANK2Benign/Likely benign1555789541RCV000265618|RCV000675593; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN5172022038975593897560NC_000020.10:g.3897560_3897561insCCCCCTClinGen:CA9750857CN517202 not provided;
NM_001386393.1(PANK2):c.1083-3_1083-2del80025PANK2Conflicting interpretations of pathogenicity760705943RCV001479527|RCV002271601; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN169374203897569389757020:g.3897569_3897570del-
NM_001386393.1(PANK2):c.1083-5C>T80025PANK2Likely benign-1RCV002712047; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038975693897569NC_000020.10:g.3897569C>T-
NM_001386393.1(PANK2):c.1083-4A>C80025PANK2Conflicting interpretations of pathogenicity562997544RCV001310447|RCV001413996; NMedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389757038975703897570-
NM_001386393.1(PANK2):c.1083-1G>T80025PANK2Pathogenic/Likely pathogenic148987163RCV000004821|RCV000004820|RCV002247248|RCV002512774; YMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855|MedGen:CN517202|MeSH:D030342,MedGen:C0950123203897573389757320:g.3897573G>TClinGen:CA10575487,OMIM:606157.0013C1846582 607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;
NM_001386393.1(PANK2):c.1086del (p.Phe362fs)80025PANK2Pathogenic2146887806RCV001905178; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389757538975753897574-
NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr)80025PANK2Pathogenic-1RCV003064597; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038975853897585NC_000020.10:g.3897585T>C-
NM_001386393.1(PANK2):c.1096_1099del (p.Met366fs)80025PANK2Pathogenic1555789557RCV000578477; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038975873897590NC_000020.10:g.3897587_3897590delClinGen:CA658684233C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.1097T>A (p.Met366Lys)80025PANK2Uncertain significance-1RCV002829018; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038975883897588NC_000020.10:g.3897588T>A-
NM_001386393.1(PANK2):c.1100G>A (p.Ser367Asn)80025PANK2Uncertain significance-1RCV002810224; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038975913897591NC_000020.10:g.3897591G>A-
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)80025PANK2Conflicting interpretations of pathogenicity559623184RCV001003627|RCV001138967|RCV001772184|RCV002479198; NHuman Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C3661900|MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:157855; M203897593389759320:g.3897593A>G-
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter)80025PANK2Pathogenic137852968RCV000004818|RCV000821698|RCV001003628; NMONDO: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:C0013421203897602389760220:g.3897602C>TClinGen:CA253216,OMIM:606157.0011C1846582 607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;
NM_001386393.1(PANK2):c.1111C>G (p.Arg371Gly)80025PANK2Uncertain significance-1RCV003052367; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038976023897602NC_000020.10:g.3897602C>G-
NM_001386393.1(PANK2):c.1112_1114del (p.Arg371_Glu372delinsGln)80025PANK2Pathogenic/Likely pathogenic766251466RCV000004822|RCV001574642; YMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN5172022038976033897605NC_000020.10:g.3897603_3897605delClinGen:CA9750869,OMIM:606157.0014C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro)80025PANK2Uncertain significance1241995212RCV000714591|RCV000714592; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:1578552038976033897603NC_000020.10:g.3897603G>C-
NM_001386393.1(PANK2):c.1112G>A (p.Arg371Gln)80025PANK2Uncertain significance1241995212RCV002240129|RCV003388625; NMedGen:CN169374|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389760338976033897603-
NM_001386393.1(PANK2):c.1129G>A (p.Glu377Lys)80025PANK2Pathogenic-1RCV003326731; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850; MONDO:MONDO:0011798,MedGen:C1846582,OMIM:607236, Orphanet:1578552038976203897620-
NM_001386393.1(PANK2):c.1143A>C (p.Arg381Ser)80025PANK2Uncertain significance-1RCV003031052; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038976343897634NC_000020.10:g.3897634A>C-
NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser)80025PANK2Likely pathogenic111863748RCV000990273; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203897642389764220:g.3897642T>C-
NM_001386393.1(PANK2):c.1152G>C (p.Leu384Phe)80025PANK2Uncertain significance-1RCV002856156; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038976433897643NC_000020.10:g.3897643G>C-
NM_001386393.1(PANK2):c.1160T>C (p.Ile387Thr)80025PANK2Uncertain significance2090571848RCV001294292; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389765138976513897651-
NM_001386393.1(PANK2):c.1167C>T (p.Asn389=)80025PANK2Likely benign776309099RCV002007431; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389765838976583897658-
NM_001386393.1(PANK2):c.1171_1174dup (p.Gly392fs)80025PANK2Pathogenic-1RCV003153102; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038976613897662-
NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)80025PANK2Pathogenic-1RCV003236339; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038976633897663-
NM_001386393.1(PANK2):c.1188A>T (p.Arg396Ser)80025PANK2Uncertain significance-1RCV002510620; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038976793897679NC_000020.10:g.3897679A>T-
NM_001386393.1(PANK2):c.1189del (p.Met397fs)80025PANK2Likely pathogenic-1RCV003229534; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038976793897679-
NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu)80025PANK2Uncertain significance146902739RCV001138968; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203897680389768020:g.3897680A>C-
NM_001386393.1(PANK2):c.1195G>A (p.Ala399Thr)80025PANK2Uncertain significance-1RCV002580072; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038976863897686NC_000020.10:g.3897686G>A-
NM_001386393.1(PANK2):c.1196C>T (p.Ala399Val)80025PANK2Likely pathogenic-1RCV003455851; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038976873897687-
NM_001386393.1(PANK2):c.1201A>G (p.Asn401Asp)80025PANK2Uncertain significance-1RCV002643703; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038976923897692NC_000020.10:g.3897692A>G-
NM_001386393.1(PANK2):c.1206+19_1206+22del80025PANK2Likely benign-1RCV002770786; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038977133897716NC_000020.10:g.3897716_3897719del-
NM_001386393.1(PANK2):c.1207-12dup80025PANK2Benign1252234662RCV002136918; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389929938993003899299-
NM_001386393.1(PANK2):c.1207-17T>C80025PANK2Likely benign1483932495RCV002156343; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389930138993013899301-
NM_001386393.1(PANK2):c.1207-11G>C80025PANK2Likely benign753139032RCV002107939; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389930738993073899307-
NM_001386393.1(PANK2):c.1207-11G>A80025PANK2Uncertain significance-1RCV003338061; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038993073899307-
NM_001386393.1(PANK2):c.1207-3C>G80025PANK2Conflicting interpretations of pathogenicity370766524RCV000803694|RCV003233854; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN517202203899315389931520:g.3899315C>G-
NM_001386393.1(PANK2):c.1216C>G (p.Gln406Glu)80025PANK2Uncertain significance1183095944RCV001979593; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389932738993273899327-
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)80025PANK2Pathogenic137852959RCV000004807|RCV000004808|RCV000132732|RCV000190815|RCV000224470|RCV001588799|RCV002496261; YMONDO: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:D01203899342389934220:g.3899342G>AClinGen:CA116915,UniProtKB:Q9BZ23#VAR_015168,OMIM:606157.0002C1846582 607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;
NM_001386393.1(PANK2):c.1248_1256del (p.Asn417_Ile419del)80025PANK2Uncertain significance-1RCV003338230; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038993573899365-
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val)80025PANK2Conflicting interpretations of pathogenicity761156912RCV000796153|RCV003155314; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:CN169374203899366389936620:g.3899366A>G-
NM_001386393.1(PANK2):c.1263G>A (p.Met421Ile)80025PANK2Uncertain significance1600571977RCV000801618; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203899374389937420:g.3899374G>A-
NM_001386393.1(PANK2):c.1265G>A (p.Arg422Gln)80025PANK2Uncertain significance371369186RCV002025673; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389937638993763899376-
NM_001386393.1(PANK2):c.1275A>G (p.Ala425=)80025PANK2Likely benign-1RCV002646064; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038993863899386-
NM_001386393.1(PANK2):c.1285G>T (p.Asp429Tyr)80025PANK2Uncertain significance-1RCV003053958; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038993963899396NC_000020.10:g.3899396G>T-
NM_001386393.1(PANK2):c.1309A>G (p.Lys437Glu)80025PANK2Uncertain significance2146893030RCV001823508; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389942038994203899420-
NM_001386393.1(PANK2):c.1318T>C (p.Phe440Leu)80025PANK2Uncertain significance138402319RCV001988767; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389942938994293899429-
NM_001386393.1(PANK2):c.1322C>T (p.Ser441Leu)80025PANK2Uncertain significance967346135RCV001989494; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389943338994333899433-
NM_001386393.1(PANK2):c.1323G>A (p.Ser441=)80025PANK2Likely benign776868989RCV001315039; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389943438994343899434-
NM_001386393.1(PANK2):c.1332+10C>T80025PANK2Likely benign775900554RCV002133305; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389945338994533899453-
NM_001386393.1(PANK2):c.1332+16C>A80025PANK2Benign142997448RCV002122652; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389945938994593899459-
NM_001386393.1(PANK2):c.1332+17G>A80025PANK2Likely benign-1RCV003071087; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502038994603899460NC_000020.10:g.3899460G>A-
NM_001386393.1(PANK2):c.1332+20G>A80025PANK2Likely benign762399308RCV002081298; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020389946338994633899463-
NM_001386393.1(PANK2):c.1333-29_1333-8del80025PANK2Uncertain significance-1RCV002967881; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502039038603903881NC_000020.10:g.3903862_3903883del-
NM_001386393.1(PANK2):c.1333-16G>T80025PANK2Likely benign-1RCV002640674; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502039038753903875NC_000020.10:g.3903875G>T-
NM_001386393.1(PANK2):c.1333-12A>G80025PANK2Likely benign749532706RCV002183994; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:15785020390387939038793903879-
NM_001386393.1(PANK2):c.1336T>C (p.Tyr446His)80025PANK2Uncertain significance2090674561RCV001215873; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203903894390389420:g.3903894T>C-
NM_001386393.1(PANK2):c.1352_1371del (p.Gly451fs)80025PANK2Pathogenic2090674600RCV001056669; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203903901390392020:g.3903901_3903920del-
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr)80025PANK2Uncertain significance886056652RCV000361496; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502039039123903912NC_000020.10:g.3903912G>AClinGen:CA10649679C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.1368G>A (p.Leu456=)80025PANK2Likely benign-1RCV002761602; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502039039263903926-
NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter)80025PANK2Uncertain significance-1RCV002627364; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502039039283903928NC_000020.10:g.3903928T>A-
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu)80025PANK2Conflicting interpretations of pathogenicity41279408RCV000690887|RCV000764234|RCV001815429; NMONDO: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|MedGen:C36619002039039373903937NC_000020.10:g.3903937C>T-C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.1380G>A (p.Pro460=)80025PANK2Likely benign-1RCV002895568; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502039039383903938-
NM_001386393.1(PANK2):c.1383A>G (p.Ter461Trp)80025PANK2Uncertain significance-1RCV003448723; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502039039413903941-
NM_001386393.1(PANK2):c.*40G>C80025PANK2Likely pathogenic1131692166RCV000495834; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203903981390398120:g.3903981G>CClinGen:CA645372658C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.*63dup80025PANK2Likely benign143725982RCV000266858; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502039039973903998NC_000020.10:g.3904004dupTClinGen:CA10649680C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.*218A>G80025PANK2Benign/Likely benign71647860RCV000326588|RCV001590987; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850|MedGen:C36619002039041593904159NC_000020.10:g.3904159A>GClinGen:CA10643834C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.*376A>G80025PANK2Uncertain significance746515620RCV000381177; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502039043173904317NC_000020.10:g.3904317A>GClinGen:CA10652504C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.*382C>T80025PANK2Uncertain significance71647861RCV000272663; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502039043233904323NC_000020.10:g.3904323C>TClinGen:CA10649683C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.*391C>G80025PANK2Uncertain significance1273989006RCV001141566; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203904332390433220:g.3904332C>G-
NM_001386393.1(PANK2):c.*407A>G80025PANK2Uncertain significance886056654RCV000327941; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502039043483904348NC_000020.10:g.3904348A>GClinGen:CA10652506C0018523 234200 Pigmentary pallidal degeneration;
NM_001386393.1(PANK2):c.*468T>C80025PANK2Uncertain significance541731517RCV001141567; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203904409390440920:g.3904409T>C-
NM_001386393.1(PANK2):c.*534A>G80025PANK2Uncertain significance780398812RCV001141568; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:157850203904475390447520:g.3904475A>G-
NM_001386393.1(PANK2):c.*541C>T80025PANK2Uncertain significance886056655RCV000387153; NMONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200, Orphanet:1578502039044823904482NC_000020.10:g.3904482C>TClinGen:CA10653107C0018523 234200 Pigmentary pallidal degeneration;
MSeqDR Portal