PANK2 (pantothenate kinase 2) - Rat Genome Database

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Gene: PANK2 (pantothenate kinase 2) Homo sapiens
Analyze
Symbol: PANK2
Name: pantothenate kinase 2
RGD ID: 1313038
HGNC Page HGNC:15894
Description: Enables pantothenate kinase activity. Involved in angiogenesis and regulation of lipid metabolic process. Located in cytosol; mitochondrial intermembrane space; and nucleus. Implicated in pantothenate kinase-associated neurodegeneration.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C20orf48; FLJ17232; Hallervorden-Spatz syndrome; HARP; hPanK2; HSS; MGC15053; NBIA1; pantothenate kinase 2, mitochondrial; pantothenate kinase-associated neurodegeneration; pantothenic acid kinase 2; PKAN
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38203,888,781 - 3,929,887 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl203,888,839 - 3,929,887 (+)EnsemblGRCh38hg38GRCh38
GRCh37203,869,428 - 3,910,534 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36203,817,486 - 3,852,502 (+)NCBINCBI36Build 36hg18NCBI36
Build 34203,818,456 - 3,852,501NCBI
Celera203,931,353 - 3,966,375 (+)NCBICelera
Cytogenetic Map20p13NCBI
HuRef203,818,171 - 3,853,155 (+)NCBIHuRef
CHM1_1203,869,486 - 3,904,501 (+)NCBICHM1_1
T2T-CHM13v2.0203,919,717 - 3,960,811 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IDA,IEA)
membrane  (IEA)
mitochondrial intermembrane space  (IDA,IEA,ISO,TAS)
mitochondrion  (HTP,IDA,IEA,ISO,NAS)
nucleus  (IBA,IDA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal posturing  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of the tongue  (IAGP)
Acanthocytosis  (IAGP)
Akinesia  (IAGP)
Aspiration pneumonia  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Blepharospasm  (IAGP)
Blindness  (IAGP)
Bradykinesia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral degeneration  (IAGP)
Childhood onset  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Clumsiness  (IAGP)
Cognitive impairment  (IAGP)
Compulsive behaviors  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Cough  (IAGP)
Decreased muscle mass  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dysphonia  (IAGP)
Dystonia  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Emotional lability  (IAGP)
Eye of the tiger anomaly of globus pallidus  (IAGP)
Eyelid apraxia  (IAGP)
Facial grimacing  (IAGP)
Feeding difficulties in infancy  (IAGP)
Focal dystonia  (IAGP)
Frequent falls  (IAGP)
Gait disturbance  (IAGP)
Generalized dystonia  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Hyperactivity  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Impulsivity  (IAGP)
Inability to walk  (IAGP)
Increased susceptibility to fractures  (IAGP)
Inertia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Iron accumulation in brain  (IAGP)
Irritability  (IAGP)
Juvenile onset  (IAGP)
Limb dystonia  (IAGP)
Loss of ambulation  (IAGP)
Mask-like facies  (IAGP)
Mental deterioration  (IAGP)
Motor tics  (IAGP)
Muscle stiffness  (IAGP)
Myopathy  (IAGP)
Neurodegeneration  (IAGP)
Obsessive-compulsive trait  (IAGP)
Opisthotonus  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Orofacial dyskinesia  (IAGP)
Oromandibular dystonia  (IAGP)
Palilalia  (IAGP)
Parkinsonism  (IAGP)
Phonic tics  (IAGP)
Pigmentary retinopathy  (IAGP)
Poor coordination  (IAGP)
Psychosis  (IAGP)
Rapidly progressive  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Retinopathy  (IAGP)
Rigidity  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Spasticity  (IAGP)
Tip-toe gait  (IAGP)
Tongue atrophy  (IAGP)
Tremor  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Urinary incontinence  (IAGP)
Violent behavior  (IAGP)
Weight loss  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Zhou B, etal., Nat Genet 2001 Aug;28(4):345-9.
Additional References at PubMed
PMID:2981478   PMID:8944032   PMID:11780052   PMID:12058097   PMID:12477932   PMID:12554685   PMID:14639680   PMID:14702039   PMID:14743358   PMID:15105273   PMID:15161933   PMID:15390030  
PMID:15465096   PMID:15659606   PMID:15747360   PMID:15793782   PMID:15843062   PMID:15911822   PMID:16240131   PMID:16272150   PMID:16437574   PMID:16450344   PMID:16962235   PMID:17101457  
PMID:17242360   PMID:17353931   PMID:17631502   PMID:17825826   PMID:17903678   PMID:18006953   PMID:18029348   PMID:18074375   PMID:18239249   PMID:19224615   PMID:20006850   PMID:20301334  
PMID:20301663   PMID:20551478   PMID:20603201   PMID:20721927   PMID:20877624   PMID:20925075   PMID:21198414   PMID:21442655   PMID:21873635   PMID:22103354   PMID:22221393   PMID:22692681  
PMID:22930366   PMID:23116688   PMID:23152917   PMID:23166001   PMID:23447832   PMID:24348190   PMID:24655737   PMID:24689511   PMID:25110003   PMID:25668476   PMID:25915509   PMID:26288249  
PMID:26496610   PMID:26547561   PMID:27173435   PMID:27516453   PMID:27815806   PMID:28113101   PMID:28189602   PMID:28514442   PMID:28680084   PMID:28821231   PMID:28863176   PMID:29117863  
PMID:29346117   PMID:29642163   PMID:29987050   PMID:30141000   PMID:30221726   PMID:30226968   PMID:31088771   PMID:31452512   PMID:31615875   PMID:31980649   PMID:32460013   PMID:32705819  
PMID:32814053   PMID:33043782   PMID:33961781   PMID:34800366   PMID:35204826   PMID:35246191   PMID:35256949   PMID:35271311   PMID:36215168   PMID:36931259   PMID:37046296   PMID:37121191  
PMID:37904482   PMID:38506547  


Genomics

Comparative Map Data
PANK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38203,888,781 - 3,929,887 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl203,888,839 - 3,929,887 (+)EnsemblGRCh38hg38GRCh38
GRCh37203,869,428 - 3,910,534 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36203,817,486 - 3,852,502 (+)NCBINCBI36Build 36hg18NCBI36
Build 34203,818,456 - 3,852,501NCBI
Celera203,931,353 - 3,966,375 (+)NCBICelera
Cytogenetic Map20p13NCBI
HuRef203,818,171 - 3,853,155 (+)NCBIHuRef
CHM1_1203,869,486 - 3,904,501 (+)NCBICHM1_1
T2T-CHM13v2.0203,919,717 - 3,960,811 (+)NCBIT2T-CHM13v2.0
Pank2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392131,103,928 - 131,141,108 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2131,104,415 - 131,141,108 (+)EnsemblGRCm39 Ensembl
GRCm382131,262,008 - 131,299,188 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2131,262,495 - 131,299,188 (+)EnsemblGRCm38mm10GRCm38
MGSCv372131,088,236 - 131,124,924 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362130,953,941 - 130,988,132 (+)NCBIMGSCv36mm8
Celera2132,488,862 - 132,525,361 (+)NCBICelera
Cytogenetic Map2F1NCBI
cM Map263.31NCBI
Pank2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83138,936,448 - 138,974,196 (+)NCBIGRCr8
mRatBN7.23118,483,382 - 118,519,551 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3118,483,444 - 118,518,320 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3122,377,611 - 122,412,651 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03130,977,021 - 131,011,891 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03128,633,718 - 128,668,758 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03123,807,911 - 123,841,797 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3123,807,952 - 123,841,797 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03130,303,253 - 130,340,189 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43118,970,527 - 119,004,728 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13118,874,080 - 118,910,207 (+)NCBI
Celera3117,291,291 - 117,326,233 (+)NCBICelera
Cytogenetic Map3q36NCBI
Pank2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541514,723,087 - 14,751,423 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541514,722,951 - 14,752,493 (+)NCBIChiLan1.0ChiLan1.0
PANK2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2214,851,394 - 4,886,600 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1204,848,256 - 4,883,409 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0203,924,054 - 3,959,393 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1203,723,211 - 3,757,748 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl203,723,211 - 3,757,748 (+)Ensemblpanpan1.1panPan2
PANK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12417,461,406 - 17,475,248 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2417,463,447 - 17,490,360 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2417,289,857 - 17,319,601 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02417,878,250 - 17,908,675 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2417,881,208 - 17,908,663 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12417,473,257 - 17,503,635 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02417,585,849 - 17,614,588 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02417,912,622 - 17,942,441 (-)NCBIUU_Cfam_GSD_1.0
Pank2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640166,353,587 - 166,381,146 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648514,785,467 - 14,811,117 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648514,785,050 - 14,804,258 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PANK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1731,798,785 - 31,828,496 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11731,797,604 - 31,844,301 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21736,139,594 - 36,169,170 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PANK2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1234,577,859 - 34,612,258 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl234,578,207 - 34,611,987 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660719,839,672 - 9,873,822 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pank2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247414,966,260 - 5,007,207 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247414,966,136 - 5,025,465 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PANK2
617 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001386393.1(PANK2):c.960T>C (p.Thr320=) single nucleotide variant Pigmentary pallidal degeneration [RCV001520010]|not provided [RCV003884590]|not specified [RCV000516536] Chr20:3912512 [GRCh38]
Chr20:3893159 [GRCh37]
Chr20:20p13		 benign|likely benign
NM_001386393.1(PANK2):c.600_606del (p.Phe201fs) deletion Pigmentary pallidal degeneration [RCV000004806] Chr20:3908224..3908230 [GRCh38]
Chr20:3888871..3888877 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) single nucleotide variant Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV000132732]|Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV002496261]|Inborn genetic diseases [RCV000190815]|Pigmentary pallidal degeneration [RCV000004807]|Retinitis pigmentosa [RCV001588799]|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [RCV004766980]|not provided [RCV000224470] Chr20:3918695 [GRCh38]
Chr20:3899342 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter) single nucleotide variant Pigmentary pallidal degeneration [RCV000004809] Chr20:3889670 [GRCh38]
Chr20:3870317 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp) single nucleotide variant Pigmentary pallidal degeneration [RCV000004810]|not provided [RCV002460885] Chr20:3908087 [GRCh38]
Chr20:3888734 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys) single nucleotide variant Pigmentary pallidal degeneration [RCV000004811] Chr20:3908153 [GRCh38]
Chr20:3888800 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn) single nucleotide variant Pigmentary pallidal degeneration [RCV000004812] Chr20:3912634 [GRCh38]
Chr20:3893281 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.721T>C (p.Ser241Pro) single nucleotide variant Pigmentary pallidal degeneration [RCV003985014] Chr20:3910646 [GRCh38]
Chr20:3891293 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala) single nucleotide variant Pigmentary pallidal degeneration [RCV001851655]|not specified [RCV003234892] Chr20:3907997 [GRCh38]
Chr20:3888644 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic|uncertain significance
NM_001386393.1(PANK2):c.502C>T (p.Arg168Cys) single nucleotide variant Pigmentary pallidal degeneration [RCV003985015]|not provided [RCV001753400] Chr20:3908129 [GRCh38]
Chr20:3888776 [GRCh37]
Chr20:20p13		 pathogenic|uncertain significance
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) single nucleotide variant Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV000132733]|Inborn genetic diseases [RCV002512773]|PANK2-related disorder [RCV004755710]|Pigmentary pallidal degeneration [RCV000004816]|not provided [RCV001310448] Chr20:3918717 [GRCh38]
Chr20:3899364 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter) single nucleotide variant Dystonic disorder [RCV001003628]|Pigmentary pallidal degeneration [RCV000821698] Chr20:3916955 [GRCh38]
Chr20:3897602 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.980T>C (p.Met327Thr) single nucleotide variant Pigmentary pallidal degeneration [RCV003984799] Chr20:3912532 [GRCh38]
Chr20:3893179 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1083-1G>T single nucleotide variant Inborn genetic diseases [RCV002512774]|Pigmentary pallidal degeneration [RCV000004821]|not provided [RCV002247248] Chr20:3916926 [GRCh38]
Chr20:3897573 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.1112_1114del (p.Arg371_Glu372delinsGln) deletion Pigmentary pallidal degeneration [RCV000004822]|not provided [RCV001574642] Chr20:3916956..3916958 [GRCh38]
Chr20:3897603..3897605 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter) single nucleotide variant Pigmentary pallidal degeneration [RCV000004823] Chr20:3889633 [GRCh38]
Chr20:3870280 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1096_1099del (p.Met366fs) deletion Pigmentary pallidal degeneration [RCV000578477] Chr20:3916940..3916943 [GRCh38]
Chr20:3897587..3897590 [GRCh37]
Chr20:20p13		 pathogenic
NM_024960.4(PANK2):c.-246+9227C>T single nucleotide variant Lung cancer [RCV000101568] Chr20:3898131 [GRCh38]
Chr20:3878778 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:2911664-4017687)x3 copy number gain See cases [RCV000052759] Chr20:2911664..4017687 [GRCh38]
Chr20:2892310..3998334 [GRCh37]
Chr20:2840310..3946334 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p13(chr20:3059231-4187716)x3 copy number gain See cases [RCV000052998] Chr20:3059231..4187716 [GRCh38]
Chr20:3039877..4168363 [GRCh37]
Chr20:2987877..4116363 [NCBI36]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1083-14_1083-9dup duplication Pigmentary pallidal degeneration [RCV000302058]|not provided [RCV000675594]|not specified [RCV000082678] Chr20:3916912..3916913 [GRCh38]
Chr20:3897559..3897560 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala) single nucleotide variant Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV001787900]|Pigmentary pallidal degeneration [RCV000313320]|not provided [RCV000675588]|not specified [RCV000082679] Chr20:3889477 [GRCh38]
Chr20:3870124 [GRCh37]
Chr20:20p13		 benign
NM_153638.4(PANK2):c.96C>T (p.Thr32=) single nucleotide variant Pigmentary pallidal degeneration [RCV002514447]|not provided [RCV000082680] Chr20:3889196 [GRCh38]
Chr20:3869843 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_001386393.1(PANK2):c.962T>C (p.Phe321Ser) single nucleotide variant Retinitis pigmentosa [RCV000201489] Chr20:3912514 [GRCh38]
Chr20:3893161 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.767C>T (p.Pro256Leu) single nucleotide variant Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV001331811] Chr20:3910692 [GRCh38]
Chr20:3891339 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.2T>A single nucleotide variant Pigmentary pallidal degeneration [RCV000401983]|not provided [RCV000675587]|not specified [RCV000173580] Chr20:3889432 [GRCh38]
Chr20:3870079 [GRCh37]
Chr20:20p13		 benign|likely benign
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p13(chr20:3510905-3891967)x3 copy number gain See cases [RCV000135606] Chr20:3510905..3891967 [GRCh38]
Chr20:3491552..3872614 [GRCh37]
Chr20:3439552..3820614 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 copy number gain See cases [RCV000139597] Chr20:80093..6386012 [GRCh38]
Chr20:60734..6366659 [GRCh37]
Chr20:8734..6314659 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 copy number gain See cases [RCV000141348] Chr20:84402..6159078 [GRCh38]
Chr20:65043..6139725 [GRCh37]
Chr20:13043..6087725 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3 copy number gain See cases [RCV000142285] Chr20:80927..5447679 [GRCh38]
Chr20:61568..5428325 [GRCh37]
Chr20:9568..5376325 [NCBI36]
Chr20:20p13-12.3		 uncertain significance
GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3 copy number gain See cases [RCV000142917] Chr20:1269303..8626911 [GRCh38]
Chr20:1249947..8607558 [GRCh37]
Chr20:1197947..8555558 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23		 pathogenic
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys) single nucleotide variant Pigmentary pallidal degeneration [RCV000544004]|not provided [RCV002466529] Chr20:3907977 [GRCh38]
Chr20:3888624 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3 copy number gain See cases [RCV000239772] Chr20:121521..5564937 [GRCh37]
Chr20:20p13-12.3		 pathogenic
NM_001386393.1(PANK2):c.752A>G (p.Tyr251Cys) single nucleotide variant Pigmentary pallidal degeneration [RCV000697750] Chr20:3910677 [GRCh38]
Chr20:3891324 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.-21G>T single nucleotide variant Pigmentary pallidal degeneration [RCV002469097]|not provided [RCV000357905] Chr20:3889410 [GRCh38]
Chr20:3870057 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1		 pathogenic
NM_001386393.1(PANK2):c.624G>A (p.Ala208=) single nucleotide variant PANK2-related disorder [RCV003910314]|Pigmentary pallidal degeneration [RCV000300446]|not provided [RCV002510879] Chr20:3908251 [GRCh38]
Chr20:3888898 [GRCh37]
Chr20:20p13		 benign|likely benign|uncertain significance
NM_153638.4(PANK2):c.-11G>A single nucleotide variant Pigmentary pallidal degeneration [RCV000365814]|not provided [RCV000675586]|not specified [RCV000365190] Chr20:3889090 [GRCh38]
Chr20:3869737 [GRCh37]
Chr20:20p13		 benign|likely benign
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys) single nucleotide variant Inborn genetic diseases [RCV002523160]|Pigmentary pallidal degeneration [RCV000355680] Chr20:3912540 [GRCh38]
Chr20:3893187 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.*382C>T single nucleotide variant Pigmentary pallidal degeneration [RCV000272663]|not provided [RCV004694601] Chr20:3923676 [GRCh38]
Chr20:3904323 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.744A>C (p.Ser248=) single nucleotide variant Pigmentary pallidal degeneration [RCV002519282]|not provided [RCV000376324] Chr20:3910669 [GRCh38]
Chr20:3891316 [GRCh37]
Chr20:20p13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.780A>G (p.Glu260=) single nucleotide variant Pigmentary pallidal degeneration [RCV001405934]|not provided [RCV000345334] Chr20:3910705 [GRCh38]
Chr20:3891352 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_001386393.1(PANK2):c.*218A>G single nucleotide variant Pigmentary pallidal degeneration [RCV000326588]|not provided [RCV001590987] Chr20:3923512 [GRCh38]
Chr20:3904159 [GRCh37]
Chr20:20p13		 benign|likely benign
NM_153638.4(PANK2):c.281G>C (p.Arg94Pro) single nucleotide variant Pigmentary pallidal degeneration [RCV000348430]|not provided [RCV000712503] Chr20:3889381 [GRCh38]
Chr20:3870028 [GRCh37]
Chr20:20p13		 benign|likely benign
NM_153638.4(PANK2):c.31G>A (p.Val11Ile) single nucleotide variant Pigmentary pallidal degeneration [RCV001859692]|not provided [RCV000345784] Chr20:3889131 [GRCh38]
Chr20:3869778 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.12C>T (p.Leu4=) single nucleotide variant Pigmentary pallidal degeneration [RCV001454628]|not provided [RCV000278980] Chr20:3889112 [GRCh38]
Chr20:3869759 [GRCh37]
Chr20:20p13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.*376A>G single nucleotide variant Pigmentary pallidal degeneration [RCV000381177] Chr20:3923670 [GRCh38]
Chr20:3904317 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.189C>G (p.Pro63=) single nucleotide variant Pigmentary pallidal degeneration [RCV000335556]|not provided [RCV000676174] Chr20:3889619 [GRCh38]
Chr20:3870266 [GRCh37]
Chr20:20p13		 benign|likely benign
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val) single nucleotide variant PANK2-related disorder [RCV003947905]|Pigmentary pallidal degeneration [RCV000631203]|not provided [RCV001697650]|not specified [RCV000393838] Chr20:3889480 [GRCh38]
Chr20:3870127 [GRCh37]
Chr20:20p13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_153638.4(PANK2):c.272C>T (p.Pro91Leu) single nucleotide variant Pigmentary pallidal degeneration [RCV000293560] Chr20:3889372 [GRCh38]
Chr20:3870019 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.298+15G>C single nucleotide variant Pigmentary pallidal degeneration [RCV000391971] Chr20:3889743 [GRCh38]
Chr20:3870390 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly) single nucleotide variant PANK2-related disorder [RCV003957511]|Pigmentary pallidal degeneration [RCV001141449]|not provided [RCV000359501] Chr20:3889380 [GRCh38]
Chr20:3870027 [GRCh37]
Chr20:20p13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT insertion Pigmentary pallidal degeneration [RCV000265618]|not provided [RCV000675593] Chr20:3916912..3916913 [GRCh38]
Chr20:3897559..3897560 [GRCh37]
Chr20:20p13		 benign|likely benign
NM_001386393.1(PANK2):c.*63dup duplication Pigmentary pallidal degeneration [RCV000266858] Chr20:3923350..3923351 [GRCh38]
Chr20:3903997..3903998 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.131G>T (p.Arg44Leu) single nucleotide variant Pigmentary pallidal degeneration [RCV001859667]|not provided [RCV000371598] Chr20:3889231 [GRCh38]
Chr20:3869878 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly) single nucleotide variant Pigmentary pallidal degeneration [RCV000490498]|not specified [RCV002229192] Chr20:3910728 [GRCh38]
Chr20:3891375 [GRCh37]
Chr20:20p13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.-23A>C single nucleotide variant not provided [RCV002287938] Chr20:3889408 [GRCh38]
Chr20:3870055 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) single nucleotide variant Pigmentary pallidal degeneration [RCV001081909]|not provided [RCV000488345]|not specified [RCV002282169] Chr20:3889237 [GRCh38]
Chr20:3869884 [GRCh37]
Chr20:20p13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153638.4(PANK2):c.54A>G (p.Ser18=) single nucleotide variant Pigmentary pallidal degeneration [RCV000383282] Chr20:3889154 [GRCh38]
Chr20:3869801 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.*541C>T single nucleotide variant Pigmentary pallidal degeneration [RCV000387153] Chr20:3923835 [GRCh38]
Chr20:3904482 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.*407A>G single nucleotide variant Pigmentary pallidal degeneration [RCV000327941] Chr20:3923701 [GRCh38]
Chr20:3904348 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr) single nucleotide variant Pigmentary pallidal degeneration [RCV000361496] Chr20:3923265 [GRCh38]
Chr20:3903912 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs) deletion Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV002506443]|Pigmentary pallidal degeneration [RCV000990270]|not provided [RCV000598553] Chr20:3889604..3889611 [GRCh38]
Chr20:3870251..3870258 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.466G>A (p.Val156Met) single nucleotide variant Pigmentary pallidal degeneration [RCV001853955]|not provided [RCV000584963] Chr20:3908093 [GRCh38]
Chr20:3888740 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu) single nucleotide variant Inborn genetic diseases [RCV004659358]|Pigmentary pallidal degeneration [RCV001138968]|not provided [RCV004761938] Chr20:3917033 [GRCh38]
Chr20:3897680 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.294G>A (p.Arg98=) single nucleotide variant Pigmentary pallidal degeneration [RCV002062067]|not provided [RCV000591482] Chr20:3889724 [GRCh38]
Chr20:3870371 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_153638.4(PANK2):c.251G>A (p.Arg84His) single nucleotide variant Inborn genetic diseases [RCV003197597] Chr20:3889351 [GRCh38]
Chr20:3869998 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.564G>A (p.Met188Ile) single nucleotide variant Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV001196626]|Neurodegeneration [RCV000415370] Chr20:3908191 [GRCh38]
Chr20:3888838 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr) indel Pigmentary pallidal degeneration [RCV001855692]|not provided [RCV000732725] Chr20:3889606..3889607 [GRCh38]
Chr20:3870253..3870254 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp) single nucleotide variant Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV001196627]|Neurodegeneration [RCV000414787]|Pigmentary pallidal degeneration [RCV003401407] Chr20:3910664 [GRCh38]
Chr20:3891311 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-4914872)x3 copy number gain See cases [RCV000446883] Chr20:61568..4914872 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:3857650-3900324) copy number loss Abnormal esophagus morphology [RCV000416787] Chr20:3857650..3900324 [GRCh37]
Chr20:20p13		 likely benign
GRCh37/hg19 20p13(chr20:61568-4904599)x3 copy number gain See cases [RCV000448397] Chr20:61568..4904599 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21		 pathogenic
NM_001386393.1(PANK2):c.940CTT[1] (p.Leu315del) microsatellite Pigmentary pallidal degeneration [RCV003502530]|not provided [RCV000482738] Chr20:3912491..3912493 [GRCh38]
Chr20:3893138..3893140 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_153638.4(PANK2):c.42_67del (p.Ala15fs) deletion Pigmentary pallidal degeneration [RCV001731712]|not provided [RCV000479319] Chr20:3889137..3889162 [GRCh38]
Chr20:3869784..3869809 [GRCh37]
Chr20:20p13		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001386393.1(PANK2):c.905+1G>T single nucleotide variant Pigmentary pallidal degeneration [RCV000496161] Chr20:3910831 [GRCh38]
Chr20:3891478 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3 copy number gain See cases [RCV000510531] Chr20:213423..5483406 [GRCh37]
Chr20:20p13-12.3		 uncertain significance
NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter) single nucleotide variant Pigmentary pallidal degeneration [RCV000500586] Chr20:3908233 [GRCh38]
Chr20:3888880 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu) single nucleotide variant Pigmentary pallidal degeneration [RCV000631200]|not provided [RCV000493982] Chr20:3907941 [GRCh38]
Chr20:3888588 [GRCh37]
Chr20:20p13		 likely pathogenic|uncertain significance
GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1 copy number loss See cases [RCV000511897] Chr20:2463101..8185680 [GRCh37]
Chr20:20p13-12.3		 pathogenic
NM_001386393.1(PANK2):c.651+3A>G single nucleotide variant Pigmentary pallidal degeneration [RCV001851354]|not provided [RCV000494403] Chr20:3908281 [GRCh38]
Chr20:3888928 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 20p13(chr20:2802218-4019837)x1 copy number loss See cases [RCV000511017] Chr20:2802218..4019837 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.*40G>C single nucleotide variant Pigmentary pallidal degeneration [RCV000495834] Chr20:3923334 [GRCh38]
Chr20:3903981 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13(chr20:3838806-4649690)x3 copy number gain See cases [RCV000511143] Chr20:3838806..4649690 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NC_000020.11:g.(?_3889081)_(3912654_?)del deletion Pigmentary pallidal degeneration [RCV000631207] Chr20:3889081..3912654 [GRCh38]
Chr20:3869728..3893301 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs) duplication Pigmentary pallidal degeneration [RCV000631202] Chr20:3912471..3912472 [GRCh38]
Chr20:3893118..3893119 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.384A>G (p.Glu128=) single nucleotide variant Pigmentary pallidal degeneration [RCV000631204]|not provided [RCV001289111] Chr20:3908011 [GRCh38]
Chr20:3888658 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln) single nucleotide variant Pigmentary pallidal degeneration [RCV000631205]|not specified [RCV002282271] Chr20:3889483 [GRCh38]
Chr20:3870130 [GRCh37]
Chr20:20p13		 likely benign|conflicting interpretations of pathogenicity
NM_001386393.1(PANK2):c.846_847del (p.Gly283_Val284insTer) deletion Pigmentary pallidal degeneration [RCV000529253]|not provided [RCV003128624] Chr20:3910771..3910772 [GRCh38]
Chr20:3891418..3891419 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.906-2A>C single nucleotide variant Pigmentary pallidal degeneration [RCV000631201] Chr20:3912456 [GRCh38]
Chr20:3893103 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2		 likely pathogenic
NM_153638.4(PANK2):c.276G>A (p.Arg92=) single nucleotide variant Pigmentary pallidal degeneration [RCV001085459]|not provided [RCV000513379]|not specified [RCV000517643] Chr20:3889376 [GRCh38]
Chr20:3870023 [GRCh37]
Chr20:20p13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.767del (p.Pro256fs) deletion Pigmentary pallidal degeneration [RCV000684919] Chr20:3910690 [GRCh38]
Chr20:3891337 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.298+24C>A single nucleotide variant not provided [RCV000675590] Chr20:3889752 [GRCh38]
Chr20:3870399 [GRCh37]
Chr20:20p13		 benign|likely benign
NM_001386393.1(PANK2):c.489G>A (p.Leu163=) single nucleotide variant PANK2-related disorder [RCV004756007]|Pigmentary pallidal degeneration [RCV001079817]|not provided [RCV000675591] Chr20:3908116 [GRCh38]
Chr20:3888763 [GRCh37]
Chr20:20p13		 benign|likely benign
NM_001386393.1(PANK2):c.132C>T (p.Asp44=) single nucleotide variant Pigmentary pallidal degeneration [RCV001519497]|not provided [RCV000676173] Chr20:3889562 [GRCh38]
Chr20:3870209 [GRCh37]
Chr20:20p13		 benign|likely benign
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro) single nucleotide variant Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV000714592]|Pigmentary pallidal degeneration [RCV000714591] Chr20:3916956 [GRCh38]
Chr20:3897603 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.201C>T (p.Ala67=) single nucleotide variant Pigmentary pallidal degeneration [RCV002532169]|not provided [RCV000675589] Chr20:3889631 [GRCh38]
Chr20:3870278 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.905+22C>T single nucleotide variant not provided [RCV000675592] Chr20:3910852 [GRCh38]
Chr20:3891499 [GRCh37]
Chr20:20p13		 benign|likely benign
NM_001386393.1(PANK2):c.1163C>T (p.Thr388Ile) single nucleotide variant not provided [RCV000675595] Chr20:3917007 [GRCh38]
Chr20:3897654 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.2:c.(?_-6)_(1662+1_1663-1)del deletion Cone-rod dystrophy [RCV000678588] Chr20:20p13 pathogenic
NM_001386393.1(PANK2):c.-5C>T single nucleotide variant Inborn genetic diseases [RCV004649262]|Pigmentary pallidal degeneration [RCV001861861]|not specified [RCV000678821] Chr20:3889426 [GRCh38]
Chr20:3870073 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.987del (p.Arg330fs) deletion Cone-rod dystrophy [RCV000678590]|Pigmentary pallidal degeneration [RCV001861860] Chr20:3912539 [GRCh38]
Chr20:3893186 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr) single nucleotide variant Leber congenital amaurosis [RCV000678589]|Pigmentary pallidal degeneration [RCV001357487]|not provided [RCV000733234] Chr20:3912505 [GRCh38]
Chr20:3893152 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1 copy number loss not provided [RCV000684134] Chr20:3092739..17091453 [GRCh37]
Chr20:20p13-12.1		 pathogenic
NM_001386393.1(PANK2):c.1024G>T (p.Asp342Tyr) single nucleotide variant Pigmentary pallidal degeneration [RCV000702793] Chr20:3912576 [GRCh38]
Chr20:3893223 [GRCh37]
Chr20:20p13		 likely pathogenic|uncertain significance
NM_001386393.1(PANK2):c.734A>G (p.Asn245Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV000685837] Chr20:3910659 [GRCh38]
Chr20:3891306 [GRCh37]
Chr20:20p13		 likely pathogenic|uncertain significance
NM_001386393.1(PANK2):c.927del (p.Phe309fs) deletion Pigmentary pallidal degeneration [RCV000694769] Chr20:3912473 [GRCh38]
Chr20:3893120 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.142C>G (p.Arg48Gly) single nucleotide variant Pigmentary pallidal degeneration [RCV000690316] Chr20:3889572 [GRCh38]
Chr20:3870219 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.769G>T (p.Ala257Ser) single nucleotide variant Inborn genetic diseases [RCV002544785]|Pigmentary pallidal degeneration [RCV000687658] Chr20:3910694 [GRCh38]
Chr20:3891341 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.9G>T (p.Arg3Ser) single nucleotide variant Inborn genetic diseases [RCV002544786]|Pigmentary pallidal degeneration [RCV000687659] Chr20:3889109 [GRCh38]
Chr20:3869756 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu) single nucleotide variant Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV000764234]|Pigmentary pallidal degeneration [RCV000690887]|not provided [RCV001815429] Chr20:3923290 [GRCh38]
Chr20:3903937 [GRCh37]
Chr20:20p13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_153638.2(PANK2):c.(?_-6)_(1662+1_1663-1)del deletion Cone-rod dystrophy [RCV000678588] Chr20:3889095..3918797 [GRCh38]
Chr20:3869742..3899444 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.579del (p.Phe194fs) deletion Pigmentary pallidal degeneration [RCV000703387] Chr20:3908206 [GRCh38]
Chr20:3888853 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.765C>G (p.Asn255Lys) single nucleotide variant Pigmentary pallidal degeneration [RCV000692561] Chr20:3910690 [GRCh38]
Chr20:3891337 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1010A>G (p.Asp337Gly) single nucleotide variant Pigmentary pallidal degeneration [RCV000695445]|not provided [RCV003442036] Chr20:3912562 [GRCh38]
Chr20:3893209 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_001386393.1(PANK2):c.18G>A (p.Gly6=) single nucleotide variant Pigmentary pallidal degeneration [RCV000893261] Chr20:3889448 [GRCh38]
Chr20:3870095 [GRCh37]
Chr20:20p13		 likely benign|conflicting interpretations of pathogenicity
NM_001386393.1(PANK2):c.651+199A>G single nucleotide variant not provided [RCV001539552] Chr20:3908477 [GRCh38]
Chr20:3889124 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.299-236A>G single nucleotide variant not provided [RCV001665621] Chr20:3907690 [GRCh38]
Chr20:3888337 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.1333-257C>T single nucleotide variant not provided [RCV001667675] Chr20:3922987 [GRCh38]
Chr20:3903634 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.298+100A>G single nucleotide variant not provided [RCV001586533] Chr20:3889828 [GRCh38]
Chr20:3870475 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.-138G>A single nucleotide variant not provided [RCV001569206] Chr20:3888963 [GRCh38]
Chr20:3869610 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1207-301_1207-300dup duplication not provided [RCV001565590] Chr20:3918362..3918363 [GRCh38]
Chr20:3899009..3899010 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.108G>C (p.Ser36=) single nucleotide variant Pigmentary pallidal degeneration [RCV000905896]|not provided [RCV002275175] Chr20:3889538 [GRCh38]
Chr20:3870185 [GRCh37]
Chr20:20p13		 likely benign
GRCh37/hg19 20p13(chr20:2806498-4007381)x1 copy number loss not provided [RCV001007072] Chr20:2806498..4007381 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.755_758del (p.Tyr252fs) deletion Pigmentary pallidal degeneration [RCV000995828] Chr20:3910678..3910681 [GRCh38]
Chr20:3891325..3891328 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter) single nucleotide variant Pigmentary pallidal degeneration [RCV000995829] Chr20:3910681 [GRCh38]
Chr20:3891328 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.-40T>C single nucleotide variant Pigmentary pallidal degeneration [RCV000981545] Chr20:3889391 [GRCh38]
Chr20:3870038 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.198G>A (p.Gly66=) single nucleotide variant Pigmentary pallidal degeneration [RCV002547253] Chr20:3889628 [GRCh38]
Chr20:3870275 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.61T>C (p.Ser21Pro) single nucleotide variant not provided [RCV000992501] Chr20:3889161 [GRCh38]
Chr20:3869808 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.521_525dup (p.Arg176fs) duplication Pigmentary pallidal degeneration [RCV000822290] Chr20:3908147..3908148 [GRCh38]
Chr20:3888794..3888795 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter) single nucleotide variant Pigmentary pallidal degeneration [RCV000826147]|not provided [RCV003320762] Chr20:3912573 [GRCh38]
Chr20:3893220 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.475G>A (p.Glu159Lys) single nucleotide variant Pigmentary pallidal degeneration [RCV000808841] Chr20:3908102 [GRCh38]
Chr20:3888749 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:3844173-4031301)x3 copy number gain not provided [RCV000848440] Chr20:3844173..4031301 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.126del (p.Arg44fs) deletion Pigmentary pallidal degeneration [RCV000796539] Chr20:3889226 [GRCh38]
Chr20:3869873 [GRCh37]
Chr20:20p13		 pathogenic|uncertain significance
GRCh37/hg19 20p13(chr20:3796763-3896539)x3 copy number gain not provided [RCV000846347] Chr20:3796763..3896539 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1207-3C>G single nucleotide variant Pigmentary pallidal degeneration [RCV000803694]|not provided [RCV003233854] Chr20:3918668 [GRCh38]
Chr20:3899315 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.255G>A (p.Ser85=) single nucleotide variant Pigmentary pallidal degeneration [RCV001136716] Chr20:3889685 [GRCh38]
Chr20:3870332 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.233G>C (p.Gly78Ala) single nucleotide variant Pigmentary pallidal degeneration [RCV000798597] Chr20:3889663 [GRCh38]
Chr20:3870310 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1263G>A (p.Met421Ile) single nucleotide variant Pigmentary pallidal degeneration [RCV000801618] Chr20:3918727 [GRCh38]
Chr20:3899374 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.215C>A (p.Thr72Lys) single nucleotide variant Inborn genetic diseases [RCV004028706]|Pigmentary pallidal degeneration [RCV000810780] Chr20:3889645 [GRCh38]
Chr20:3870292 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val) single nucleotide variant Pigmentary pallidal degeneration [RCV000796153]|not provided [RCV004792478]|not specified [RCV003155314] Chr20:3918719 [GRCh38]
Chr20:3899366 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic|uncertain significance
NM_153638.4(PANK2):c.37T>C (p.Trp13Arg) single nucleotide variant Inborn genetic diseases [RCV004028022]|Pigmentary pallidal degeneration [RCV000800323] Chr20:3889137 [GRCh38]
Chr20:3869784 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile) single nucleotide variant Pigmentary pallidal degeneration [RCV000803081]|not provided [RCV001815438] Chr20:3910806 [GRCh38]
Chr20:3891453 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.1082+1G>C single nucleotide variant Pigmentary pallidal degeneration [RCV000808102] Chr20:3912635 [GRCh38]
Chr20:3893282 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.717T>C (p.Ile239=) single nucleotide variant Pigmentary pallidal degeneration [RCV001138965] Chr20:3910642 [GRCh38]
Chr20:3891289 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 20p13(chr20:3838806-3898983)x1 copy number loss not provided [RCV000848202] Chr20:3838806..3898983 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.920C>G (p.Thr307Ser) single nucleotide variant not provided [RCV000997739] Chr20:3912472 [GRCh38]
Chr20:3893119 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer) deletion Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV002245821]|Pigmentary pallidal degeneration [RCV000990271]|See cases [RCV002252289] Chr20:3889669..3889670 [GRCh38]
Chr20:3870316..3870317 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.25C>T (p.Arg9Ter) single nucleotide variant Pigmentary pallidal degeneration [RCV001216862]|not provided [RCV001529170] Chr20:3889455 [GRCh38]
Chr20:3870102 [GRCh37]
Chr20:20p13		 pathogenic|uncertain significance
NM_153638.4(PANK2):c.34C>T (p.His12Tyr) single nucleotide variant Inborn genetic diseases [RCV004033593]|Pigmentary pallidal degeneration [RCV001203887]|not specified [RCV003994233] Chr20:3889134 [GRCh38]
Chr20:3869781 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro) single nucleotide variant Pigmentary pallidal degeneration [RCV000990272]|not provided [RCV003151260] Chr20:3910665 [GRCh38]
Chr20:3891312 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001386393.1(PANK2):c.593A>G (p.His198Arg) single nucleotide variant Inborn genetic diseases [RCV003272699] Chr20:3908220 [GRCh38]
Chr20:3888867 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.299-325G>T single nucleotide variant not provided [RCV001588300] Chr20:3907601 [GRCh38]
Chr20:3888248 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.-53G>A single nucleotide variant not provided [RCV001560748] Chr20:3889048 [GRCh38]
Chr20:3869695 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.-22G>C single nucleotide variant not provided [RCV001557010] Chr20:3889079 [GRCh38]
Chr20:3869726 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.651+62A>C single nucleotide variant not provided [RCV001593862] Chr20:3908340 [GRCh38]
Chr20:3888987 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.652-273_652-272insG insertion not provided [RCV001652430] Chr20:3910304..3910305 [GRCh38]
Chr20:3890951..3890952 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.67A>C (p.Met23Leu) single nucleotide variant Pigmentary pallidal degeneration [RCV002001728] Chr20:3889497 [GRCh38]
Chr20:3870144 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1083-10C>T single nucleotide variant Pigmentary pallidal degeneration [RCV003502579] Chr20:3916917 [GRCh38]
Chr20:3897564 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.255G>T (p.Ser85=) single nucleotide variant Pigmentary pallidal degeneration [RCV000952180]|not provided [RCV002462235] Chr20:3889685 [GRCh38]
Chr20:3870332 [GRCh37]
Chr20:20p13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001386393.1(PANK2):c.39G>A (p.Arg13=) single nucleotide variant Pigmentary pallidal degeneration [RCV002539397] Chr20:3889469 [GRCh38]
Chr20:3870116 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1083-3_1083-2del microsatellite PANK2-related disorder [RCV003970758]|Pigmentary pallidal degeneration [RCV001479527]|not specified [RCV002271601] Chr20:3916922..3916923 [GRCh38]
Chr20:3897569..3897570 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_001386393.1(PANK2):c.415_495dup (p.Arg139_Leu165dup) duplication Pigmentary pallidal degeneration [RCV001216578] Chr20:3908041..3908042 [GRCh38]
Chr20:3888688..3888689 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs) microsatellite Pigmentary pallidal degeneration [RCV001069094] Chr20:3908118..3908119 [GRCh38]
Chr20:3888765..3888766 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.54G>C (p.Arg18=) single nucleotide variant Pigmentary pallidal degeneration [RCV001143295] Chr20:3889484 [GRCh38]
Chr20:3870131 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_153638.4(PANK2):c.159C>T (p.Gly53=) single nucleotide variant Pigmentary pallidal degeneration [RCV001858861]|not provided [RCV000997738] Chr20:3889259 [GRCh38]
Chr20:3869906 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_001386393.1(PANK2):c.258C>G (p.Val86=) single nucleotide variant Pigmentary pallidal degeneration [RCV000912721] Chr20:3889688 [GRCh38]
Chr20:3870335 [GRCh37]
Chr20:20p13		 likely benign|conflicting interpretations of pathogenicity
NM_001386393.1(PANK2):c.694T>C (p.Leu232=) single nucleotide variant Pigmentary pallidal degeneration [RCV001138964] Chr20:3910619 [GRCh38]
Chr20:3891266 [GRCh37]
Chr20:20p13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.298+2dup duplication Pigmentary pallidal degeneration [RCV002568878]|not provided [RCV001529730] Chr20:3889729..3889730 [GRCh38]
Chr20:3870376..3870377 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.905+200G>A single nucleotide variant not provided [RCV001563475] Chr20:3911030 [GRCh38]
Chr20:3891677 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV000990273] Chr20:3916995 [GRCh38]
Chr20:3897642 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.*39G>A single nucleotide variant not provided [RCV001552312] Chr20:3923333 [GRCh38]
Chr20:3903980 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1206+264C>T single nucleotide variant not provided [RCV001595678] Chr20:3917314 [GRCh38]
Chr20:3897961 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.737G>A (p.Gly246Glu) single nucleotide variant not provided [RCV001552698] Chr20:3910662 [GRCh38]
Chr20:3891309 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.299-250C>T single nucleotide variant not provided [RCV001566771] Chr20:3907676 [GRCh38]
Chr20:3888323 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1376T>G (p.Ile459Ser) single nucleotide variant not provided [RCV003235897] Chr20:3923287 [GRCh38]
Chr20:3903934 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1		 pathogenic
NM_001386393.1(PANK2):c.906-219A>G single nucleotide variant not provided [RCV001597773] Chr20:3912239 [GRCh38]
Chr20:3892886 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.5G>A (p.Gly2Glu) single nucleotide variant Inborn genetic diseases [RCV004039552]|Pigmentary pallidal degeneration [RCV001903934]|not provided [RCV001653001] Chr20:3889435 [GRCh38]
Chr20:3870082 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1184del (p.Ala395fs) deletion not provided [RCV001009106] Chr20:3917028 [GRCh38]
Chr20:3897675 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.652-270dup duplication not provided [RCV001594622] Chr20:3910295..3910296 [GRCh38]
Chr20:3890942..3890943 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.299-158T>C single nucleotide variant not provided [RCV001592131] Chr20:3907768 [GRCh38]
Chr20:3888415 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.298+35C>T single nucleotide variant not provided [RCV001698555] Chr20:3889763 [GRCh38]
Chr20:3870410 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.-28C>T single nucleotide variant PANK2-related disorder [RCV003953517]|Pigmentary pallidal degeneration [RCV001141452] Chr20:3889403 [GRCh38]
Chr20:3870050 [GRCh37]
Chr20:20p13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.-10G>A single nucleotide variant Pigmentary pallidal degeneration [RCV001141453] Chr20:3889421 [GRCh38]
Chr20:3870068 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.*468T>C single nucleotide variant Pigmentary pallidal degeneration [RCV001141567] Chr20:3923762 [GRCh38]
Chr20:3904409 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.11T>C (p.Leu4Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV001143294] Chr20:3889441 [GRCh38]
Chr20:3870088 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.104C>T (p.Pro35Leu) single nucleotide variant Pigmentary pallidal degeneration [RCV001138861] Chr20:3889204 [GRCh38]
Chr20:3869851 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.298+42C>A single nucleotide variant not provided [RCV001710202]|not specified [RCV004598117] Chr20:3889770 [GRCh38]
Chr20:3870417 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=) single nucleotide variant Pigmentary pallidal degeneration [RCV001138966] Chr20:3912617 [GRCh38]
Chr20:3893264 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.243del (p.Ser81fs) deletion Pigmentary pallidal degeneration [RCV001049500]|not provided [RCV001268830] Chr20:3889673 [GRCh38]
Chr20:3870320 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1332+73G>A single nucleotide variant not provided [RCV001584597] Chr20:3918869 [GRCh38]
Chr20:3899516 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.938G>T (p.Cys313Phe) single nucleotide variant Inborn genetic diseases [RCV002571157]|Retinitis pigmentosa [RCV001591812] Chr20:3912490 [GRCh38]
Chr20:3893137 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1207-300dup duplication not provided [RCV001612485] Chr20:3918362..3918363 [GRCh38]
Chr20:3899009..3899010 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.1083-13dup duplication not provided [RCV001585214]|not specified [RCV001699822] Chr20:3916906..3916907 [GRCh38]
Chr20:3897553..3897554 [GRCh37]
Chr20:20p13		 benign|likely benign
GRCh37/hg19 20p13(chr20:3888573-3888925) copy number loss Pigmentary pallidal degeneration [RCV001004091] Chr20:3888573..3888925 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.298+309C>T single nucleotide variant not provided [RCV001540544] Chr20:3890037 [GRCh38]
Chr20:3870684 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) single nucleotide variant Dystonic disorder [RCV001003627]|Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV002479198]|Pigmentary pallidal degeneration [RCV001138967]|not provided [RCV001772184] Chr20:3916946 [GRCh38]
Chr20:3897593 [GRCh37]
Chr20:20p13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001386393.1(PANK2):c.832dup (p.Val278fs) duplication Pigmentary pallidal degeneration [RCV001215748] Chr20:3910755..3910756 [GRCh38]
Chr20:3891402..3891403 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.115G>T (p.Glu39Ter) single nucleotide variant Pigmentary pallidal degeneration [RCV001206525] Chr20:3889545 [GRCh38]
Chr20:3870192 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.383A>G (p.Glu128Gly) single nucleotide variant Pigmentary pallidal degeneration [RCV001201697] Chr20:3908010 [GRCh38]
Chr20:3888657 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1352_1371del (p.Gly451fs) deletion Pigmentary pallidal degeneration [RCV001056669] Chr20:3923254..3923273 [GRCh38]
Chr20:3903901..3903920 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.298+10C>T single nucleotide variant Pigmentary pallidal degeneration [RCV001136717] Chr20:3889738 [GRCh38]
Chr20:3870385 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
NM_153638.4(PANK2):c.283C>A (p.Leu95Ile) single nucleotide variant Pigmentary pallidal degeneration [RCV001141450]|not provided [RCV001310446] Chr20:3889383 [GRCh38]
Chr20:3870030 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.-29C>T single nucleotide variant Pigmentary pallidal degeneration [RCV001141451] Chr20:3889402 [GRCh38]
Chr20:3870049 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.*534A>G single nucleotide variant Pigmentary pallidal degeneration [RCV001141568] Chr20:3923828 [GRCh38]
Chr20:3904475 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.*391C>G single nucleotide variant Pigmentary pallidal degeneration [RCV001141566] Chr20:3923685 [GRCh38]
Chr20:3904332 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly) single nucleotide variant Pigmentary pallidal degeneration [RCV001215749]|not provided [RCV003132279] Chr20:3912577 [GRCh38]
Chr20:3893224 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic|uncertain significance
NM_001386393.1(PANK2):c.66C>T (p.Pro22=) single nucleotide variant Pigmentary pallidal degeneration [RCV001143296] Chr20:3889496 [GRCh38]
Chr20:3870143 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1336T>C (p.Tyr446His) single nucleotide variant Pigmentary pallidal degeneration [RCV001215873] Chr20:3923247 [GRCh38]
Chr20:3903894 [GRCh37]
Chr20:20p13		 likely pathogenic|uncertain significance
GRCh37/hg19 20p13(chr20:2802218-4010802)x3 copy number gain not provided [RCV001258752] Chr20:2802218..4010802 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.905+1G>C single nucleotide variant Pigmentary pallidal degeneration [RCV001331812] Chr20:3910831 [GRCh38]
Chr20:3891478 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:3092739-4939933)x3 copy number gain not provided [RCV001258903] Chr20:3092739..4939933 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:3116478-4199486)x3 copy number gain not provided [RCV001258904] Chr20:3116478..4199486 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln) single nucleotide variant Pigmentary pallidal degeneration [RCV002537709]|not provided [RCV001268386] Chr20:3908088 [GRCh38]
Chr20:3888735 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic|uncertain significance
NM_001386393.1(PANK2):c.906-1G>A single nucleotide variant not provided [RCV001268387] Chr20:3912457 [GRCh38]
Chr20:3893104 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.1245_1246insTA (p.Ile416Ter) insertion not provided [RCV001268835] Chr20:3918708..3918709 [GRCh38]
Chr20:3899355..3899356 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.209_231del (p.Glu70fs) deletion not provided [RCV001268431] Chr20:3889636..3889658 [GRCh38]
Chr20:3870283..3870305 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.651+1G>C single nucleotide variant Inborn genetic diseases [RCV001266901] Chr20:3908279 [GRCh38]
Chr20:3888926 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp) single nucleotide variant Pigmentary pallidal degeneration [RCV001289540] Chr20:3910808 [GRCh38]
Chr20:3891455 [GRCh37]
Chr20:20p13		 pathogenic|conflicting interpretations of pathogenicity
NM_001386393.1(PANK2):c.203C>T (p.Ser68Leu) single nucleotide variant Pigmentary pallidal degeneration [RCV001338030]|not specified [RCV003331121] Chr20:3889633 [GRCh38]
Chr20:3870280 [GRCh37]
Chr20:20p13		 uncertain significance
NC_000020.10:g.(?_3190178)_(3903961_?)dup duplication Inosine triphosphatase deficiency [RCV001363028] Chr20:3190178..3903961 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1160T>C (p.Ile387Thr) single nucleotide variant Pigmentary pallidal degeneration [RCV001294292] Chr20:3917004 [GRCh38]
Chr20:3897651 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.474C>T (p.Leu158=) single nucleotide variant Pigmentary pallidal degeneration [RCV001422044] Chr20:3908101 [GRCh38]
Chr20:3888748 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.272C>G (p.Pro91Arg) single nucleotide variant Pigmentary pallidal degeneration [RCV001301748] Chr20:3889372 [GRCh38]
Chr20:3870019 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1083-4A>C single nucleotide variant Pigmentary pallidal degeneration [RCV001413996]|not provided [RCV001310447] Chr20:3916923 [GRCh38]
Chr20:3897570 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_001386393.1(PANK2):c.298+30C>G single nucleotide variant not provided [RCV001536442] Chr20:3889758 [GRCh38]
Chr20:3870405 [GRCh37]
Chr20:20p13		 benign
NM_153638.4(PANK2):c.283C>T (p.Leu95Phe) single nucleotide variant Pigmentary pallidal degeneration [RCV001316830]|not provided [RCV001573141] Chr20:3889383 [GRCh38]
Chr20:3870030 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_001386393.1(PANK2):c.20G>A (p.Arg7Gln) single nucleotide variant Pigmentary pallidal degeneration [RCV001319285] Chr20:3889450 [GRCh38]
Chr20:3870097 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.706A>G (p.Ile236Val) single nucleotide variant Pigmentary pallidal degeneration [RCV001359273]|not provided [RCV003320830] Chr20:3910631 [GRCh38]
Chr20:3891278 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.238T>A (p.Tyr80Asn) single nucleotide variant Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV001334624] Chr20:3889668 [GRCh38]
Chr20:3870315 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1323G>A (p.Ser441=) single nucleotide variant Pigmentary pallidal degeneration [RCV001315039] Chr20:3918787 [GRCh38]
Chr20:3899434 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_001386393.1(PANK2):c.506A>G (p.Lys169Arg) single nucleotide variant Inborn genetic diseases [RCV004656572]|Pigmentary pallidal degeneration [RCV001368328]|not provided [RCV003227032] Chr20:3908133 [GRCh38]
Chr20:3888780 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1281T>C (p.Ala427=) single nucleotide variant not provided [RCV001310449] Chr20:3918745 [GRCh38]
Chr20:3899392 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1286A>G (p.Asp429Gly) single nucleotide variant not provided [RCV001310450] Chr20:3918750 [GRCh38]
Chr20:3899397 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.8G>T (p.Gly3Val) single nucleotide variant Pigmentary pallidal degeneration [RCV001317637] Chr20:3889438 [GRCh38]
Chr20:3870085 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr) single nucleotide variant Pigmentary pallidal degeneration [RCV001420153] Chr20:3910691 [GRCh38]
Chr20:3891338 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.298+34C>T single nucleotide variant not provided [RCV001686609] Chr20:3889762 [GRCh38]
Chr20:3870409 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.651+82C>T single nucleotide variant not provided [RCV001581987] Chr20:3908360 [GRCh38]
Chr20:3889007 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1082+109A>G single nucleotide variant not provided [RCV001715408] Chr20:3912743 [GRCh38]
Chr20:3893390 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.1332+197G>A single nucleotide variant not provided [RCV001682103] Chr20:3918993 [GRCh38]
Chr20:3899640 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.652-271_652-270dup duplication not provided [RCV001674041] Chr20:3910295..3910296 [GRCh38]
Chr20:3890942..3890943 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.1332+300G>A single nucleotide variant not provided [RCV001667922] Chr20:3919096 [GRCh38]
Chr20:3899743 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.1038G>A (p.Gly346=) single nucleotide variant Pigmentary pallidal degeneration [RCV001503448] Chr20:3912590 [GRCh38]
Chr20:3893237 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1002C>G (p.Thr334=) single nucleotide variant Pigmentary pallidal degeneration [RCV001499365] Chr20:3912554 [GRCh38]
Chr20:3893201 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.816G>A (p.Pro272=) single nucleotide variant Pigmentary pallidal degeneration [RCV001398086] Chr20:3910741 [GRCh38]
Chr20:3891388 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.66G>T (p.Gly22=) single nucleotide variant Pigmentary pallidal degeneration [RCV001485158] Chr20:3889166 [GRCh38]
Chr20:3869813 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.67A>G (p.Met23Val) single nucleotide variant Pigmentary pallidal degeneration [RCV001420152]|not specified [RCV004526850] Chr20:3889497 [GRCh38]
Chr20:3870144 [GRCh37]
Chr20:20p13		 pathogenic|uncertain significance
NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV001379451] Chr20:3907980 [GRCh38]
Chr20:3888627 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.905+99A>C single nucleotide variant not provided [RCV001536366] Chr20:3910929 [GRCh38]
Chr20:3891576 [GRCh37]
Chr20:20p13		 benign
NC_000020.11:g.3863511_3918336del deletion Pigmentary pallidal degeneration [RCV001250201] Chr20:3844158..3898983 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:2802218-4010802)x3 copy number gain See cases [RCV002285060] Chr20:2802218..4010802 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg) single nucleotide variant Pigmentary pallidal degeneration [RCV002277633] Chr20:3908052 [GRCh38]
Chr20:3888699 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1112G>A (p.Arg371Gln) single nucleotide variant Pigmentary pallidal degeneration [RCV003388625]|not specified [RCV002240129] Chr20:3916956 [GRCh38]
Chr20:3897603 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.8dup (p.Leu5fs) duplication not provided [RCV001782566] Chr20:3889432..3889433 [GRCh38]
Chr20:3870079..3870080 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.40A>G (p.Met14Val) single nucleotide variant Pigmentary pallidal degeneration [RCV003094116]|See cases [RCV002252994] Chr20:3889470 [GRCh38]
Chr20:3870117 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.-2C>T single nucleotide variant not provided [RCV001766914] Chr20:3889429 [GRCh38]
Chr20:3870076 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.682G>T (p.Glu228Ter) single nucleotide variant Pigmentary pallidal degeneration [RCV003992549]|not provided [RCV001784796] Chr20:3910607 [GRCh38]
Chr20:3891254 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.584C>T (p.Ser195Leu) single nucleotide variant not provided [RCV001816302] Chr20:3908211 [GRCh38]
Chr20:3888858 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.1277A>G (p.Tyr426Cys) single nucleotide variant Pigmentary pallidal degeneration [RCV003502606]|not specified [RCV001779503] Chr20:3918741 [GRCh38]
Chr20:3899388 [GRCh37]
Chr20:20p13		 pathogenic|uncertain significance
NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu) single nucleotide variant Pigmentary pallidal degeneration [RCV001806316] Chr20:3907949 [GRCh38]
Chr20:3888596 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.182C>T (p.Ser61Leu) single nucleotide variant Pigmentary pallidal degeneration [RCV001930068] Chr20:3889612 [GRCh38]
Chr20:3870259 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.95C>T (p.Thr32Ile) single nucleotide variant Inborn genetic diseases [RCV002551084]|Pigmentary pallidal degeneration [RCV001870953] Chr20:3889195 [GRCh38]
Chr20:3869842 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.868T>C (p.Tyr290His) single nucleotide variant Pigmentary pallidal degeneration [RCV001896748] Chr20:3910793 [GRCh38]
Chr20:3891440 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.651+3A>C single nucleotide variant Pigmentary pallidal degeneration [RCV002025022] Chr20:3908281 [GRCh38]
Chr20:3888928 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.815C>T (p.Pro272Leu) single nucleotide variant Pigmentary pallidal degeneration [RCV002005825] Chr20:3910740 [GRCh38]
Chr20:3891387 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.21_22delinsTT (p.Gln8Ter) indel Pigmentary pallidal degeneration [RCV001988385] Chr20:3889451..3889452 [GRCh38]
Chr20:3870098..3870099 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.-21G>A single nucleotide variant Pigmentary pallidal degeneration [RCV001911311]|not provided [RCV003481178] Chr20:3889410 [GRCh38]
Chr20:3870057 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1265G>A (p.Arg422Gln) single nucleotide variant Inborn genetic diseases [RCV004046089]|Pigmentary pallidal degeneration [RCV002025673] Chr20:3918729 [GRCh38]
Chr20:3899376 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1318T>C (p.Phe440Leu) single nucleotide variant Pigmentary pallidal degeneration [RCV001988767] Chr20:3918782 [GRCh38]
Chr20:3899429 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.358C>T (p.Pro120Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV001964656] Chr20:3907985 [GRCh38]
Chr20:3888632 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.971C>A (p.Ala324Asp) single nucleotide variant Pigmentary pallidal degeneration [RCV001984739] Chr20:3912523 [GRCh38]
Chr20:3893170 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.160A>G (p.Thr54Ala) single nucleotide variant Pigmentary pallidal degeneration [RCV002050642] Chr20:3889260 [GRCh38]
Chr20:3869907 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1309A>G (p.Lys437Glu) single nucleotide variant Pigmentary pallidal degeneration [RCV001823508] Chr20:3918773 [GRCh38]
Chr20:3899420 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.629A>G (p.Lys210Arg) single nucleotide variant Pigmentary pallidal degeneration [RCV002005730] Chr20:3908256 [GRCh38]
Chr20:3888903 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.37C>T (p.Arg13Trp) single nucleotide variant Pigmentary pallidal degeneration [RCV002042536] Chr20:3889467 [GRCh38]
Chr20:3870114 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.100G>T (p.Val34Phe) single nucleotide variant Pigmentary pallidal degeneration [RCV002006688] Chr20:3889530 [GRCh38]
Chr20:3870177 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1068G>T (p.Trp356Cys) single nucleotide variant Pigmentary pallidal degeneration [RCV001894352] Chr20:3912620 [GRCh38]
Chr20:3893267 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.845C>T (p.Ser282Leu) single nucleotide variant Pigmentary pallidal degeneration [RCV001890260] Chr20:3910770 [GRCh38]
Chr20:3891417 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.317dup (p.Asp107fs) duplication Pigmentary pallidal degeneration [RCV001965392] Chr20:3907943..3907944 [GRCh38]
Chr20:3888590..3888591 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.865G>C (p.Val289Leu) single nucleotide variant Pigmentary pallidal degeneration [RCV001912368] Chr20:3910790 [GRCh38]
Chr20:3891437 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1167C>T (p.Asn389=) single nucleotide variant Pigmentary pallidal degeneration [RCV002007431] Chr20:3917011 [GRCh38]
Chr20:3897658 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.200A>C (p.Glu67Ala) single nucleotide variant Pigmentary pallidal degeneration [RCV002039959] Chr20:3889300 [GRCh38]
Chr20:3869947 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.79C>A (p.Leu27Ile) single nucleotide variant Pigmentary pallidal degeneration [RCV002038366] Chr20:3889179 [GRCh38]
Chr20:3869826 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.440_441insCT (p.Tyr148fs) insertion Pigmentary pallidal degeneration [RCV001999812] Chr20:3908067..3908068 [GRCh38]
Chr20:3888714..3888715 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.728G>A (p.Gly243Glu) single nucleotide variant Pigmentary pallidal degeneration [RCV002001273] Chr20:3910653 [GRCh38]
Chr20:3891300 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.958A>G (p.Thr320Ala) single nucleotide variant Inborn genetic diseases [RCV002552857]|Pigmentary pallidal degeneration [RCV001924514] Chr20:3912510 [GRCh38]
Chr20:3893157 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.55C>G (p.Leu19Val) single nucleotide variant Pigmentary pallidal degeneration [RCV001941442] Chr20:3889485 [GRCh38]
Chr20:3870132 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.7G>A (p.Gly3Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV001941151] Chr20:3889437 [GRCh38]
Chr20:3870084 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.25C>G (p.Arg9Gly) single nucleotide variant Pigmentary pallidal degeneration [RCV002027676] Chr20:3889455 [GRCh38]
Chr20:3870102 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1086del (p.Phe362fs) deletion Pigmentary pallidal degeneration [RCV001905178] Chr20:3916928 [GRCh38]
Chr20:3897575 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.133C>T (p.Pro45Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV001962777] Chr20:3889563 [GRCh38]
Chr20:3870210 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.652-1G>C single nucleotide variant Pigmentary pallidal degeneration [RCV001975059] Chr20:3910576 [GRCh38]
Chr20:3891223 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.434A>G (p.Asn145Ser) single nucleotide variant Inborn genetic diseases [RCV002543491]|Pigmentary pallidal degeneration [RCV002050620] Chr20:3908061 [GRCh38]
Chr20:3888708 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.906-99_929del deletion Pigmentary pallidal degeneration [RCV001954573] Chr20:3912355..3912477 [GRCh38]
Chr20:3893002..3893124 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.118C>A (p.Gln40Lys) single nucleotide variant Pigmentary pallidal degeneration [RCV001919460] Chr20:3889548 [GRCh38]
Chr20:3870195 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.-20A>C single nucleotide variant Pigmentary pallidal degeneration [RCV001922807] Chr20:3889411 [GRCh38]
Chr20:3870058 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.49G>A (p.Gly17Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV001877381] Chr20:3889479 [GRCh38]
Chr20:3870126 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.766C>G (p.Pro256Ala) single nucleotide variant Pigmentary pallidal degeneration [RCV001922286] Chr20:3910691 [GRCh38]
Chr20:3891338 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.701A>C (p.Lys234Thr) single nucleotide variant Inborn genetic diseases [RCV002548124]|Pigmentary pallidal degeneration [RCV002016145] Chr20:3910626 [GRCh38]
Chr20:3891273 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.655G>T (p.Gly219Cys) single nucleotide variant Pigmentary pallidal degeneration [RCV002017114] Chr20:3910580 [GRCh38]
Chr20:3891227 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.932T>G (p.Leu311Arg) single nucleotide variant Pigmentary pallidal degeneration [RCV001981220] Chr20:3912484 [GRCh38]
Chr20:3893131 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.55C>T (p.Leu19Phe) single nucleotide variant Pigmentary pallidal degeneration [RCV001905248] Chr20:3889485 [GRCh38]
Chr20:3870132 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_001386393.1(PANK2):c.115G>A (p.Glu39Lys) single nucleotide variant Pigmentary pallidal degeneration [RCV001925178] Chr20:3889545 [GRCh38]
Chr20:3870192 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.367A>G (p.Ile123Val) single nucleotide variant Pigmentary pallidal degeneration [RCV001992611] Chr20:3907994 [GRCh38]
Chr20:3888641 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.854G>A (p.Ser285Asn) single nucleotide variant Pigmentary pallidal degeneration [RCV001995817] Chr20:3910779 [GRCh38]
Chr20:3891426 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.78C>A (p.His26Gln) single nucleotide variant Pigmentary pallidal degeneration [RCV001997206] Chr20:3889508 [GRCh38]
Chr20:3870155 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.882T>G (p.Asn294Lys) single nucleotide variant Pigmentary pallidal degeneration [RCV001997854]|not provided [RCV003319498] Chr20:3910807 [GRCh38]
Chr20:3891454 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.207T>A (p.Ala69=) single nucleotide variant Pigmentary pallidal degeneration [RCV002035768] Chr20:3889637 [GRCh38]
Chr20:3870284 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_001386393.1(PANK2):c.566G>A (p.Gly189Asp) single nucleotide variant Pigmentary pallidal degeneration [RCV001906588] Chr20:3908193 [GRCh38]
Chr20:3888840 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.519C>A (p.His173Gln) single nucleotide variant Pigmentary pallidal degeneration [RCV001991576] Chr20:3908146 [GRCh38]
Chr20:3888793 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.187C>T (p.Pro63Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV001911636]|not provided [RCV004793584] Chr20:3889287 [GRCh38]
Chr20:3869934 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.233G>T (p.Gly78Val) single nucleotide variant Inborn genetic diseases [RCV003355663]|Pigmentary pallidal degeneration [RCV001933574] Chr20:3889663 [GRCh38]
Chr20:3870310 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.887A>G (p.Lys296Arg) single nucleotide variant Pigmentary pallidal degeneration [RCV002013887] Chr20:3910812 [GRCh38]
Chr20:3891459 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1216C>G (p.Gln406Glu) single nucleotide variant Pigmentary pallidal degeneration [RCV001979593] Chr20:3918680 [GRCh38]
Chr20:3899327 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.923T>G (p.Phe308Cys) single nucleotide variant Pigmentary pallidal degeneration [RCV001901524] Chr20:3912475 [GRCh38]
Chr20:3893122 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.944T>C (p.Leu315Pro) single nucleotide variant Pigmentary pallidal degeneration [RCV001935746] Chr20:3912496 [GRCh38]
Chr20:3893143 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.-32C>T single nucleotide variant Pigmentary pallidal degeneration [RCV001954610] Chr20:3889399 [GRCh38]
Chr20:3870046 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.17G>C (p.Gly6Ala) single nucleotide variant Inborn genetic diseases [RCV002547915]|Pigmentary pallidal degeneration [RCV001876362] Chr20:3889447 [GRCh38]
Chr20:3870094 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.113C>A (p.Thr38Asn) single nucleotide variant Pigmentary pallidal degeneration [RCV001962311] Chr20:3889213 [GRCh38]
Chr20:3869860 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.239C>T (p.Pro80Leu) single nucleotide variant Pigmentary pallidal degeneration [RCV001925254] Chr20:3889339 [GRCh38]
Chr20:3869986 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.299-9C>G single nucleotide variant Pigmentary pallidal degeneration [RCV001934431] Chr20:3907917 [GRCh38]
Chr20:3888564 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_153638.4(PANK2):c.55C>T (p.Leu19Phe) single nucleotide variant Pigmentary pallidal degeneration [RCV001927977] Chr20:3889155 [GRCh38]
Chr20:3869802 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1322C>T (p.Ser441Leu) single nucleotide variant Pigmentary pallidal degeneration [RCV001989494] Chr20:3918786 [GRCh38]
Chr20:3899433 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.275A>G (p.Glu92Gly) single nucleotide variant Pigmentary pallidal degeneration [RCV001916391] Chr20:3889705 [GRCh38]
Chr20:3870352 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.245G>A (p.Arg82His) single nucleotide variant Pigmentary pallidal degeneration [RCV001974516] Chr20:3889345 [GRCh38]
Chr20:3869992 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.285C>T (p.Leu95=) single nucleotide variant Pigmentary pallidal degeneration [RCV002107613] Chr20:3889385 [GRCh38]
Chr20:3870032 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.618T>G (p.Gly206=) single nucleotide variant Pigmentary pallidal degeneration [RCV002105314] Chr20:3908245 [GRCh38]
Chr20:3888892 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.651+84A>G single nucleotide variant not provided [RCV002224254] Chr20:3908362 [GRCh38]
Chr20:3889009 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.905+252T>C single nucleotide variant not provided [RCV002224255] Chr20:3911082 [GRCh38]
Chr20:3891729 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.114C>T (p.Thr38=) single nucleotide variant Pigmentary pallidal degeneration [RCV002108478] Chr20:3889214 [GRCh38]
Chr20:3869861 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1083-20T>C single nucleotide variant Pigmentary pallidal degeneration [RCV002085225] Chr20:3916907 [GRCh38]
Chr20:3897554 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.48G>A (p.Pro16=) single nucleotide variant Pigmentary pallidal degeneration [RCV002096888] Chr20:3889148 [GRCh38]
Chr20:3869795 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.905+14A>T single nucleotide variant Pigmentary pallidal degeneration [RCV002184973] Chr20:3910844 [GRCh38]
Chr20:3891491 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1207-11G>C single nucleotide variant Pigmentary pallidal degeneration [RCV002107939] Chr20:3918660 [GRCh38]
Chr20:3899307 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.291G>A (p.Lys97=) single nucleotide variant Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV002505868]|Pigmentary pallidal degeneration [RCV002191600] Chr20:3889721 [GRCh38]
Chr20:3870368 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.600C>G (p.Val200=) single nucleotide variant Pigmentary pallidal degeneration [RCV002186389] Chr20:3908227 [GRCh38]
Chr20:3888874 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1332+10C>T single nucleotide variant Pigmentary pallidal degeneration [RCV002133305] Chr20:3918806 [GRCh38]
Chr20:3899453 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.624G>T (p.Ala208=) single nucleotide variant Pigmentary pallidal degeneration [RCV002173509] Chr20:3908251 [GRCh38]
Chr20:3888898 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.369C>A (p.Ile123=) single nucleotide variant Pigmentary pallidal degeneration [RCV002109633] Chr20:3907996 [GRCh38]
Chr20:3888643 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.204G>C (p.Ser68=) single nucleotide variant PANK2-related disorder [RCV003895847]|Pigmentary pallidal degeneration [RCV002150164] Chr20:3889634 [GRCh38]
Chr20:3870281 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.978A>G (p.Glu326=) single nucleotide variant Pigmentary pallidal degeneration [RCV002072523] Chr20:3912530 [GRCh38]
Chr20:3893177 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.201C>A (p.Ala67=) single nucleotide variant Pigmentary pallidal degeneration [RCV002081291]|not provided [RCV004704718] Chr20:3889631 [GRCh38]
Chr20:3870278 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1207-17T>C single nucleotide variant Pigmentary pallidal degeneration [RCV002156343] Chr20:3918654 [GRCh38]
Chr20:3899301 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.652-18A>C single nucleotide variant Pigmentary pallidal degeneration [RCV002176419]|not provided [RCV004717889] Chr20:3910559 [GRCh38]
Chr20:3891206 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.585G>A (p.Ser195=) single nucleotide variant Pigmentary pallidal degeneration [RCV002202940] Chr20:3908212 [GRCh38]
Chr20:3888859 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.905+18C>T single nucleotide variant Pigmentary pallidal degeneration [RCV002200896] Chr20:3910848 [GRCh38]
Chr20:3891495 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1332+16C>A single nucleotide variant Pigmentary pallidal degeneration [RCV002122652]|not provided [RCV004717877] Chr20:3918812 [GRCh38]
Chr20:3899459 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.1332+20G>A single nucleotide variant Pigmentary pallidal degeneration [RCV002081298] Chr20:3918816 [GRCh38]
Chr20:3899463 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.189C>T (p.Pro63=) single nucleotide variant Pigmentary pallidal degeneration [RCV002161224] Chr20:3889619 [GRCh38]
Chr20:3870266 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.906-4A>C single nucleotide variant Pigmentary pallidal degeneration [RCV002217416] Chr20:3912454 [GRCh38]
Chr20:3893101 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1207-12dup duplication Pigmentary pallidal degeneration [RCV002136918] Chr20:3918652..3918653 [GRCh38]
Chr20:3899299..3899300 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.180G>A (p.Ala60=) single nucleotide variant Pigmentary pallidal degeneration [RCV002101967] Chr20:3889610 [GRCh38]
Chr20:3870257 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.651+9T>C single nucleotide variant Pigmentary pallidal degeneration [RCV002177484] Chr20:3908287 [GRCh38]
Chr20:3888934 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.726C>T (p.Val242=) single nucleotide variant Pigmentary pallidal degeneration [RCV002104174] Chr20:3910651 [GRCh38]
Chr20:3891298 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.324C>T (p.Ile108=) single nucleotide variant Pigmentary pallidal degeneration [RCV002219402] Chr20:3907951 [GRCh38]
Chr20:3888598 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1333-12A>G single nucleotide variant Pigmentary pallidal degeneration [RCV002183994] Chr20:3923232 [GRCh38]
Chr20:3903879 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.183G>T (p.Ser61=) single nucleotide variant Pigmentary pallidal degeneration [RCV002180025] Chr20:3889613 [GRCh38]
Chr20:3870260 [GRCh37]
Chr20:20p13		 likely benign
NC_000020.10:g.(?_1959939)_(6760201_?)dup duplication Huntington disease-like 1 [RCV003110989]|Pigmentary pallidal degeneration [RCV003122285] Chr20:1959939..6760201 [GRCh37]
Chr20:20p13-12.3		 uncertain significance
NC_000020.10:g.(?_3888553)_(3888945_?)del deletion Pigmentary pallidal degeneration [RCV003113763] Chr20:3888553..3888945 [GRCh37]
Chr20:20p13		 pathogenic
NC_000020.10:g.(?_3869748)_(3891497_?)del deletion Pigmentary pallidal degeneration [RCV003113764] Chr20:3869748..3891497 [GRCh37]
Chr20:20p13		 pathogenic
NC_000020.10:g.(?_3891204)_(3893301_?)del deletion Pigmentary pallidal degeneration [RCV003113765] Chr20:3891204..3893301 [GRCh37]
Chr20:20p13		 pathogenic
NC_000020.10:g.(?_3869748)_(3893301_?)dup duplication Pigmentary pallidal degeneration [RCV003113766] Chr20:3869748..3893301 [GRCh37]
Chr20:20p13		 uncertain significance
NC_000020.10:g.(?_3063276)_(3903941_?)del deletion not provided [RCV003122630] Chr20:3063276..3903941 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1358T>C (p.Leu453Pro) single nucleotide variant Pigmentary pallidal degeneration [RCV004783370] Chr20:3923269 [GRCh38]
Chr20:3903916 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.1258G>A (p.Ala420Thr) single nucleotide variant Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV003152655] Chr20:3918722 [GRCh38]
Chr20:3899369 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1171_1174dup (p.Gly392fs) duplication Pigmentary pallidal degeneration [RCV003153102] Chr20:3917014..3917015 [GRCh38]
Chr20:3897661..3897662 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1030_1055delinsATGGAGCC (p.Tyr344_Gly352delinsMetGluPro) indel not provided [RCV003131876] Chr20:3912582..3912607 [GRCh38]
Chr20:3893229..3893254 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter) single nucleotide variant Pigmentary pallidal degeneration [RCV002266168] Chr20:3910589 [GRCh38]
Chr20:3891236 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn) single nucleotide variant Pigmentary pallidal degeneration [RCV003236339] Chr20:3917016 [GRCh38]
Chr20:3897663 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.457A>T (p.Ile153Phe) single nucleotide variant not specified [RCV003236340] Chr20:3908084 [GRCh38]
Chr20:3888731 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-12.2(chr20:3178539-11848383) copy number loss 20p12.3 microdeletion syndrome [RCV002280726] Chr20:3178539..11848383 [GRCh37]
Chr20:20p13-12.2		 pathogenic
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr) single nucleotide variant Pigmentary pallidal degeneration [RCV002468953] Chr20:3910710 [GRCh38]
Chr20:3891357 [GRCh37]
Chr20:20p13		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001386393.1(PANK2):c.1009G>A (p.Asp337Asn) single nucleotide variant not specified [RCV002470158] Chr20:3912561 [GRCh38]
Chr20:3893208 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.317T>A (p.Leu106Gln) single nucleotide variant Pigmentary pallidal degeneration [RCV002301950] Chr20:3907944 [GRCh38]
Chr20:3888591 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1071T>C (p.Ala357=) single nucleotide variant Pigmentary pallidal degeneration [RCV002616255] Chr20:3912623 [GRCh38]
Chr20:3893270 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.236C>T (p.Ser79Phe) single nucleotide variant Pigmentary pallidal degeneration [RCV002726898] Chr20:3889666 [GRCh38]
Chr20:3870313 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1333-29_1333-8del deletion Pigmentary pallidal degeneration [RCV002967881] Chr20:3923213..3923234 [GRCh38]
Chr20:3903860..3903881 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs) insertion Pigmentary pallidal degeneration [RCV002510609]|Retinal dystrophy [RCV004817041]|not provided [RCV003138286] Chr20:3889645..3889646 [GRCh38]
Chr20:3870292..3870293 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1188A>T (p.Arg396Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV002510620] Chr20:3917032 [GRCh38]
Chr20:3897679 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.-11G>A single nucleotide variant Pigmentary pallidal degeneration [RCV002971798] Chr20:3889420 [GRCh38]
Chr20:3870067 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.207T>G (p.Phe69Leu) single nucleotide variant Inborn genetic diseases [RCV002864571] Chr20:3889307 [GRCh38]
Chr20:3869954 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.118C>T (p.Leu40Phe) single nucleotide variant Pigmentary pallidal degeneration [RCV003075506] Chr20:3889218 [GRCh38]
Chr20:3869865 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.522T>C (p.Phe174=) single nucleotide variant Pigmentary pallidal degeneration [RCV002866089] Chr20:3908149 [GRCh38]
Chr20:3888796 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1121T>C (p.Val374Ala) single nucleotide variant Inborn genetic diseases [RCV002968692] Chr20:3916965 [GRCh38]
Chr20:3897612 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.141G>T (p.Gly47=) single nucleotide variant Pigmentary pallidal degeneration [RCV002881259] Chr20:3889571 [GRCh38]
Chr20:3870218 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.710T>C (p.Leu237Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV002816501] Chr20:3910635 [GRCh38]
Chr20:3891282 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1006G>A (p.Val336Met) single nucleotide variant not provided [RCV002462617] Chr20:3912558 [GRCh38]
Chr20:3893205 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.157C>T (p.Leu53=) single nucleotide variant Pigmentary pallidal degeneration [RCV002908353] Chr20:3889587 [GRCh38]
Chr20:3870234 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1333-16G>T single nucleotide variant Pigmentary pallidal degeneration [RCV002640674] Chr20:3923228 [GRCh38]
Chr20:3903875 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.989G>A (p.Arg330His) single nucleotide variant Inborn genetic diseases [RCV002927888]|Pigmentary pallidal degeneration [RCV002927887] Chr20:3912541 [GRCh38]
Chr20:3893188 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.394G>C (p.Val132Leu) single nucleotide variant Pigmentary pallidal degeneration [RCV002695238] Chr20:3908021 [GRCh38]
Chr20:3888668 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.280C>A (p.Arg94Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV002886329] Chr20:3889380 [GRCh38]
Chr20:3870027 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.299-14del deletion Pigmentary pallidal degeneration [RCV003080324] Chr20:3907908 [GRCh38]
Chr20:3888555 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.502_503delinsAC (p.Arg168Thr) indel Pigmentary pallidal degeneration [RCV002926823] Chr20:3908129..3908130 [GRCh38]
Chr20:3888776..3888777 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.838A>G (p.Ile280Val) single nucleotide variant Pigmentary pallidal degeneration [RCV002756943] Chr20:3910763 [GRCh38]
Chr20:3891410 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.47G>A (p.Gly16Glu) single nucleotide variant Pigmentary pallidal degeneration [RCV003078287] Chr20:3889477 [GRCh38]
Chr20:3870124 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.946A>G (p.Thr316Ala) single nucleotide variant Pigmentary pallidal degeneration [RCV002979174] Chr20:3912498 [GRCh38]
Chr20:3893145 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.906-21_906-19del deletion Pigmentary pallidal degeneration [RCV002912757] Chr20:3912436..3912438 [GRCh38]
Chr20:3893083..3893085 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.955A>C (p.Thr319Pro) single nucleotide variant Inborn genetic diseases [RCV002757768] Chr20:3912507 [GRCh38]
Chr20:3893154 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1368G>A (p.Leu456=) single nucleotide variant Pigmentary pallidal degeneration [RCV002761602] Chr20:3923279 [GRCh38]
Chr20:3903926 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.802G>T (p.Asp268Tyr) single nucleotide variant Pigmentary pallidal degeneration [RCV002979895] Chr20:3910727 [GRCh38]
Chr20:3891374 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.73C>T (p.Arg25Cys) single nucleotide variant Pigmentary pallidal degeneration [RCV002821036] Chr20:3889503 [GRCh38]
Chr20:3870150 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.298+3_298+6del deletion Pigmentary pallidal degeneration [RCV002735127] Chr20:3889729..3889732 [GRCh38]
Chr20:3870376..3870379 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.783G>A (p.Lys261=) single nucleotide variant Pigmentary pallidal degeneration [RCV002927380] Chr20:3910708 [GRCh38]
Chr20:3891355 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.167G>C (p.Arg56Pro) single nucleotide variant Inborn genetic diseases [RCV002782737] Chr20:3889597 [GRCh38]
Chr20:3870244 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1285G>T (p.Asp429Tyr) single nucleotide variant Pigmentary pallidal degeneration [RCV003053958] Chr20:3918749 [GRCh38]
Chr20:3899396 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.108G>A (p.Ser36=) single nucleotide variant Pigmentary pallidal degeneration [RCV003053262]|not provided [RCV003883867] Chr20:3889538 [GRCh38]
Chr20:3870185 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.-16G>A single nucleotide variant Pigmentary pallidal degeneration [RCV002622508] Chr20:3889415 [GRCh38]
Chr20:3870062 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.451A>G (p.Thr151Ala) single nucleotide variant Pigmentary pallidal degeneration [RCV003002047] Chr20:3908078 [GRCh38]
Chr20:3888725 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.652A>G (p.Ile218Val) single nucleotide variant Pigmentary pallidal degeneration [RCV002658962]|not provided [RCV004790234] Chr20:3910577 [GRCh38]
Chr20:3891224 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.116A>G (p.Glu39Gly) single nucleotide variant Pigmentary pallidal degeneration [RCV003019024] Chr20:3889546 [GRCh38]
Chr20:3870193 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.117C>A (p.Thr39=) single nucleotide variant Pigmentary pallidal degeneration [RCV002643010] Chr20:3889217 [GRCh38]
Chr20:3869864 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter) single nucleotide variant Pigmentary pallidal degeneration [RCV002627364] Chr20:3923281 [GRCh38]
Chr20:3903928 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.99G>A (p.Arg33=) single nucleotide variant Pigmentary pallidal degeneration [RCV002711973] Chr20:3889199 [GRCh38]
Chr20:3869846 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1083-5C>T single nucleotide variant Pigmentary pallidal degeneration [RCV002712047] Chr20:3916922 [GRCh38]
Chr20:3897569 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.713A>T (p.Tyr238Phe) single nucleotide variant Inborn genetic diseases [RCV004064275]|Pigmentary pallidal degeneration [RCV002509004]|not provided [RCV004790216] Chr20:3910638 [GRCh38]
Chr20:3891285 [GRCh37]
Chr20:20p13		 uncertain significance|not provided
NM_153638.4(PANK2):c.209G>C (p.Gly70Ala) single nucleotide variant Inborn genetic diseases [RCV003274228]|Pigmentary pallidal degeneration [RCV003082235] Chr20:3889309 [GRCh38]
Chr20:3869956 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.58T>C (p.Ser20Pro) single nucleotide variant Pigmentary pallidal degeneration [RCV003056792] Chr20:3889158 [GRCh38]
Chr20:3869805 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.905+10A>T single nucleotide variant Pigmentary pallidal degeneration [RCV002624930] Chr20:3910840 [GRCh38]
Chr20:3891487 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.141_155dup (p.Pro52_Leu53insArgArgGlnGluPro) duplication Pigmentary pallidal degeneration [RCV002623427] Chr20:3889570..3889571 [GRCh38]
Chr20:3870217..3870218 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1097T>A (p.Met366Lys) single nucleotide variant Pigmentary pallidal degeneration [RCV002829018] Chr20:3916941 [GRCh38]
Chr20:3897588 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.776C>G (p.Ser259Cys) single nucleotide variant Pigmentary pallidal degeneration [RCV002890660] Chr20:3910701 [GRCh38]
Chr20:3891348 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.219A>G (p.Pro73=) single nucleotide variant Pigmentary pallidal degeneration [RCV002790324] Chr20:3889319 [GRCh38]
Chr20:3869966 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.119A>G (p.Gln40Arg) single nucleotide variant Inborn genetic diseases [RCV002624715]|Pigmentary pallidal degeneration [RCV002651265] Chr20:3889549 [GRCh38]
Chr20:3870196 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.66G>A (p.Gly22=) single nucleotide variant Pigmentary pallidal degeneration [RCV003083289] Chr20:3889166 [GRCh38]
Chr20:3869813 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1201A>G (p.Asn401Asp) single nucleotide variant Pigmentary pallidal degeneration [RCV002643703] Chr20:3917045 [GRCh38]
Chr20:3897692 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.636G>A (p.Glu212=) single nucleotide variant Pigmentary pallidal degeneration [RCV002851097] Chr20:3908263 [GRCh38]
Chr20:3888910 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.-40T>G single nucleotide variant Pigmentary pallidal degeneration [RCV002624860] Chr20:3889391 [GRCh38]
Chr20:3870038 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.30C>T (p.Arg10=) single nucleotide variant PANK2-related disorder [RCV003943753]|Pigmentary pallidal degeneration [RCV003085376] Chr20:3889130 [GRCh38]
Chr20:3869777 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.652-16T>A single nucleotide variant Pigmentary pallidal degeneration [RCV003047926] Chr20:3910561 [GRCh38]
Chr20:3891208 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1152G>C (p.Leu384Phe) single nucleotide variant Pigmentary pallidal degeneration [RCV002856156] Chr20:3916996 [GRCh38]
Chr20:3897643 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.129C>T (p.Pro43=) single nucleotide variant Pigmentary pallidal degeneration [RCV002647355] Chr20:3889229 [GRCh38]
Chr20:3869876 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.-31T>G single nucleotide variant Pigmentary pallidal degeneration [RCV003065539] Chr20:3889400 [GRCh38]
Chr20:3870047 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.14G>A (p.Gly5Glu) single nucleotide variant Pigmentary pallidal degeneration [RCV002629673] Chr20:3889114 [GRCh38]
Chr20:3869761 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.651+7A>G single nucleotide variant Pigmentary pallidal degeneration [RCV003009303] Chr20:3908285 [GRCh38]
Chr20:3888932 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.-22G>C single nucleotide variant Pigmentary pallidal degeneration [RCV003060350] Chr20:3889409 [GRCh38]
Chr20:3870056 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1380G>A (p.Pro460=) single nucleotide variant Pigmentary pallidal degeneration [RCV002895568] Chr20:3923291 [GRCh38]
Chr20:3903938 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.172C>T (p.Pro58Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV002597612] Chr20:3889272 [GRCh38]
Chr20:3869919 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1100G>A (p.Ser367Asn) single nucleotide variant Pigmentary pallidal degeneration [RCV002810224] Chr20:3916944 [GRCh38]
Chr20:3897591 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.99C>T (p.Ser33=) single nucleotide variant Pigmentary pallidal degeneration [RCV002647925] Chr20:3889529 [GRCh38]
Chr20:3870176 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1195G>A (p.Ala399Thr) single nucleotide variant Pigmentary pallidal degeneration [RCV002580072] Chr20:3917039 [GRCh38]
Chr20:3897686 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr) single nucleotide variant Pigmentary pallidal degeneration [RCV003064597] Chr20:3916938 [GRCh38]
Chr20:3897585 [GRCh37]
Chr20:20p13		 pathogenic
NM_153638.4(PANK2):c.38G>A (p.Trp13Ter) single nucleotide variant Pigmentary pallidal degeneration [RCV002599153]|Retinal dystrophy [RCV004818226] Chr20:3889138 [GRCh38]
Chr20:3869785 [GRCh37]
Chr20:20p13		 pathogenic|uncertain significance
NM_001386393.1(PANK2):c.425T>A (p.Leu142Gln) single nucleotide variant Pigmentary pallidal degeneration [RCV002810292] Chr20:3908052 [GRCh38]
Chr20:3888699 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.539A>G (p.His180Arg) single nucleotide variant Inborn genetic diseases [RCV002702649] Chr20:3908166 [GRCh38]
Chr20:3888813 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1275A>G (p.Ala425=) single nucleotide variant Pigmentary pallidal degeneration [RCV002646064] Chr20:3918739 [GRCh38]
Chr20:3899386 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.-3A>C single nucleotide variant Pigmentary pallidal degeneration [RCV002810892] Chr20:3889428 [GRCh38]
Chr20:3870075 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.298+18C>T single nucleotide variant Pigmentary pallidal degeneration [RCV002627647] Chr20:3889746 [GRCh38]
Chr20:3870393 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.422A>G (p.Tyr141Cys) single nucleotide variant Pigmentary pallidal degeneration [RCV002720653] Chr20:3908049 [GRCh38]
Chr20:3888696 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1206+19_1206+22del deletion Pigmentary pallidal degeneration [RCV002770786] Chr20:3917066..3917069 [GRCh38]
Chr20:3897713..3897716 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1143A>C (p.Arg381Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV003031052] Chr20:3916987 [GRCh38]
Chr20:3897634 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.-29C>G single nucleotide variant Pigmentary pallidal degeneration [RCV003067411] Chr20:3889402 [GRCh38]
Chr20:3870049 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.252C>T (p.Thr84=) single nucleotide variant Pigmentary pallidal degeneration [RCV002676927] Chr20:3889682 [GRCh38]
Chr20:3870329 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1111C>G (p.Arg371Gly) single nucleotide variant Pigmentary pallidal degeneration [RCV003052367] Chr20:3916955 [GRCh38]
Chr20:3897602 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.632T>G (p.Phe211Cys) single nucleotide variant Pigmentary pallidal degeneration [RCV003153032] Chr20:3908259 [GRCh38]
Chr20:3888906 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.676C>T (p.Leu226=) single nucleotide variant Pigmentary pallidal degeneration [RCV002604921] Chr20:3910601 [GRCh38]
Chr20:3891248 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter) single nucleotide variant Pigmentary pallidal degeneration [RCV003050551] Chr20:3910810 [GRCh38]
Chr20:3891457 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.695T>C (p.Leu232Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV003070979] Chr20:3910620 [GRCh38]
Chr20:3891267 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1332+17G>A single nucleotide variant Pigmentary pallidal degeneration [RCV003071087] Chr20:3918813 [GRCh38]
Chr20:3899460 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.731T>G (p.Phe244Cys) single nucleotide variant Pigmentary pallidal degeneration [RCV003071658] Chr20:3910656 [GRCh38]
Chr20:3891303 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.76C>T (p.Leu26Phe) single nucleotide variant Inborn genetic diseases [RCV002724711] Chr20:3889176 [GRCh38]
Chr20:3869823 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.503G>A (p.Arg168His) single nucleotide variant Pigmentary pallidal degeneration [RCV002722010] Chr20:3908130 [GRCh38]
Chr20:3888777 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.33G>A (p.Leu11=) single nucleotide variant Pigmentary pallidal degeneration [RCV003093545] Chr20:3889463 [GRCh38]
Chr20:3870110 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.-36T>G single nucleotide variant not provided [RCV004790811] Chr20:3889395 [GRCh38]
Chr20:3870042 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.464A>T (p.Asp155Val) single nucleotide variant not provided [RCV003159325] Chr20:3908091 [GRCh38]
Chr20:3888738 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1049G>A (p.Arg350Lys) single nucleotide variant Inborn genetic diseases [RCV003196626] Chr20:3912601 [GRCh38]
Chr20:3893248 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1 copy number loss See cases [RCV003158005] Chr20:3034557..5524417 [GRCh37]
Chr20:20p13-12.3		 likely pathogenic
NM_153638.4(PANK2):c.69A>C (p.Leu23=) single nucleotide variant not provided [RCV003223089] Chr20:3889169 [GRCh38]
Chr20:3869816 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.283C>G (p.Leu95Val) single nucleotide variant not provided [RCV003223090] Chr20:3889383 [GRCh38]
Chr20:3870030 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1001C>A (p.Thr334Asn) single nucleotide variant Inborn genetic diseases [RCV003206914]|not provided [RCV004790504] Chr20:3912553 [GRCh38]
Chr20:3893200 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.325G>A (p.Gly109Ser) single nucleotide variant Pigmentary pallidal degeneration [RCV003226007] Chr20:3907952 [GRCh38]
Chr20:3888599 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.1189del (p.Met397fs) deletion Pigmentary pallidal degeneration [RCV003229534] Chr20:3917032 [GRCh38]
Chr20:3897679 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.665A>T (p.Gln222Leu) single nucleotide variant not provided [RCV003319731] Chr20:3910590 [GRCh38]
Chr20:3891237 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1383A>G (p.Ter461Trp) single nucleotide variant Pigmentary pallidal degeneration [RCV003448723] Chr20:3923294 [GRCh38]
Chr20:3903941 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.568A>G (p.Arg190Gly) single nucleotide variant not specified [RCV003324272] Chr20:3908195 [GRCh38]
Chr20:3888842 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.84_100dup (p.Val34fs) duplication Pigmentary pallidal degeneration [RCV004799893] Chr20:3889512..3889513 [GRCh38]
Chr20:3870159..3870160 [GRCh37]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21		 pathogenic
NM_001386393.1(PANK2):c.273C>G (p.Val91=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502724]|not provided [RCV003327083] Chr20:3889703 [GRCh38]
Chr20:3870350 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1129G>A (p.Glu377Lys) single nucleotide variant Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [RCV003326731] Chr20:3916973 [GRCh38]
Chr20:3897620 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1248_1256del (p.Asn417_Ile419del) deletion Pigmentary pallidal degeneration [RCV003338230] Chr20:3918710..3918718 [GRCh38]
Chr20:3899357..3899365 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1207-11G>A single nucleotide variant Pigmentary pallidal degeneration [RCV003338061] Chr20:3918660 [GRCh38]
Chr20:3899307 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.652-2A>G single nucleotide variant Pigmentary pallidal degeneration [RCV003338101] Chr20:3910575 [GRCh38]
Chr20:3891222 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs) microsatellite Pigmentary pallidal degeneration [RCV003338055] Chr20:3908121..3908122 [GRCh38]
Chr20:3888768..3888769 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.1352G>A (p.Gly451Glu) single nucleotide variant not provided [RCV003387598] Chr20:3923263 [GRCh38]
Chr20:3903910 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.400A>C (p.Ser134Arg) single nucleotide variant Inborn genetic diseases [RCV003372340] Chr20:3908027 [GRCh38]
Chr20:3888674 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.774T>C (p.Asp258=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503738] Chr20:3910699 [GRCh38]
Chr20:3891346 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.336G>T (p.Leu112=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503196] Chr20:3907963 [GRCh38]
Chr20:3888610 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.891G>T (p.Arg297=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503321] Chr20:3910816 [GRCh38]
Chr20:3891463 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.129G>C (p.Gly43=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503336] Chr20:3889559 [GRCh38]
Chr20:3870206 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1119T>C (p.Ala373=) single nucleotide variant Pigmentary pallidal degeneration [RCV003504064] Chr20:3916963 [GRCh38]
Chr20:3897610 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.30G>A (p.Leu10=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503143] Chr20:3889460 [GRCh38]
Chr20:3870107 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.192G>T (p.Ala64=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503408] Chr20:3889622 [GRCh38]
Chr20:3870269 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.105C>T (p.Pro35=) single nucleotide variant Pigmentary pallidal degeneration [RCV003873275] Chr20:3889205 [GRCh38]
Chr20:3869852 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1057C>T (p.Leu353=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503394] Chr20:3912609 [GRCh38]
Chr20:3893256 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.195C>G (p.Val65=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503876] Chr20:3889625 [GRCh38]
Chr20:3870272 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.906-18_906-15del deletion Pigmentary pallidal degeneration [RCV003503758] Chr20:3912438..3912441 [GRCh38]
Chr20:3893085..3893088 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.465C>T (p.Asp155=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503861] Chr20:3908092 [GRCh38]
Chr20:3888739 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCT insertion Pigmentary pallidal degeneration [RCV003504159] Chr20:3916912..3916913 [GRCh38]
Chr20:3897559..3897560 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1035A>T (p.Gly345=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503781] Chr20:3912587 [GRCh38]
Chr20:3893234 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.431C>T (p.Ser144Phe) single nucleotide variant Pigmentary pallidal degeneration [RCV003503787] Chr20:3908058 [GRCh38]
Chr20:3888705 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.348A>T (p.Val116=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503820] Chr20:3907975 [GRCh38]
Chr20:3888622 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1206+9A>G single nucleotide variant Pigmentary pallidal degeneration [RCV003503833] Chr20:3917059 [GRCh38]
Chr20:3897706 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.813T>C (p.Asn271=) single nucleotide variant Pigmentary pallidal degeneration [RCV003504379] Chr20:3910738 [GRCh38]
Chr20:3891385 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.652-15C>T single nucleotide variant Pigmentary pallidal degeneration [RCV003504307] Chr20:3910562 [GRCh38]
Chr20:3891209 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.308G>A (p.Trp103Ter) single nucleotide variant Pigmentary pallidal degeneration [RCV003504416] Chr20:3907935 [GRCh38]
Chr20:3888582 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1083-13T>C single nucleotide variant Pigmentary pallidal degeneration [RCV003503934] Chr20:3916914 [GRCh38]
Chr20:3897561 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.381A>G (p.Glu127=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503966] Chr20:3908008 [GRCh38]
Chr20:3888655 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.609C>A (p.Ala203=) single nucleotide variant Pigmentary pallidal degeneration [RCV003504069] Chr20:3908236 [GRCh38]
Chr20:3888883 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.906-12T>G single nucleotide variant Pigmentary pallidal degeneration [RCV003504066] Chr20:3912446 [GRCh38]
Chr20:3893093 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.118C>T (p.Gln40Ter) single nucleotide variant Pigmentary pallidal degeneration [RCV003504088] Chr20:3889548 [GRCh38]
Chr20:3870195 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.675A>G (p.Lys225=) single nucleotide variant Pigmentary pallidal degeneration [RCV003504099] Chr20:3910600 [GRCh38]
Chr20:3891247 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.714C>T (p.Tyr238=) single nucleotide variant Pigmentary pallidal degeneration [RCV003504180] Chr20:3910639 [GRCh38]
Chr20:3891286 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.280C>T (p.Leu94=) single nucleotide variant Pigmentary pallidal degeneration [RCV003504147] Chr20:3889710 [GRCh38]
Chr20:3870357 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1257C>T (p.Ile419=) single nucleotide variant Pigmentary pallidal degeneration [RCV003504274] Chr20:3918721 [GRCh38]
Chr20:3899368 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1380G>T (p.Pro460=) single nucleotide variant Pigmentary pallidal degeneration [RCV003504178] Chr20:3923291 [GRCh38]
Chr20:3903938 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.298+11C>T single nucleotide variant Pigmentary pallidal degeneration [RCV003504349] Chr20:3889739 [GRCh38]
Chr20:3870386 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.234C>G (p.Gly78=) single nucleotide variant Pigmentary pallidal degeneration [RCV003504369] Chr20:3889664 [GRCh38]
Chr20:3870311 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.450T>C (p.Ser150=) single nucleotide variant Pigmentary pallidal degeneration [RCV003504402] Chr20:3908077 [GRCh38]
Chr20:3888724 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.243C>T (p.Ser81=) single nucleotide variant Pigmentary pallidal degeneration [RCV003504291] Chr20:3889673 [GRCh38]
Chr20:3870320 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.652-11T>C single nucleotide variant Pigmentary pallidal degeneration [RCV003504300] Chr20:3910566 [GRCh38]
Chr20:3891213 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.444T>C (p.Tyr148=) single nucleotide variant Pigmentary pallidal degeneration [RCV003504401] Chr20:3908071 [GRCh38]
Chr20:3888718 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.68_69insTG (p.His24fs) insertion Pigmentary pallidal degeneration [RCV003486497] Chr20:3889168..3889169 [GRCh38]
Chr20:3869815..3869816 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1206+11A>G single nucleotide variant Pigmentary pallidal degeneration [RCV003502860] Chr20:3917061 [GRCh38]
Chr20:3897708 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.60C>T (p.Gly20=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503083] Chr20:3889490 [GRCh38]
Chr20:3870137 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1083-16T>G single nucleotide variant Pigmentary pallidal degeneration [RCV003502929] Chr20:3916911 [GRCh38]
Chr20:3897558 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.696G>A (p.Leu232=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502940] Chr20:3910621 [GRCh38]
Chr20:3891268 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1090_1096del (p.Gly363_Asn364insTer) deletion Pigmentary pallidal degeneration [RCV003503001] Chr20:3916932..3916938 [GRCh38]
Chr20:3897579..3897585 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.198G>T (p.Gly66=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503214] Chr20:3889628 [GRCh38]
Chr20:3870275 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.-28C>G single nucleotide variant Pigmentary pallidal degeneration [RCV003503939] Chr20:3889403 [GRCh38]
Chr20:3870050 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1122C>G (p.Val374=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503600] Chr20:3916966 [GRCh38]
Chr20:3897613 [GRCh37]
Chr20:20p13		 likely benign
GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3 copy number gain not provided [RCV003485207] Chr20:61569..9542361 [GRCh37]
Chr20:20p13-12.2		 pathogenic
NM_001386393.1(PANK2):c.1196C>T (p.Ala399Val) single nucleotide variant Pigmentary pallidal degeneration [RCV003455851] Chr20:3917040 [GRCh38]
Chr20:3897687 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.1061C>G (p.Pro354Arg) single nucleotide variant Pigmentary pallidal degeneration [RCV003502735]|not provided [RCV003442316] Chr20:3912613 [GRCh38]
Chr20:3893260 [GRCh37]
Chr20:20p13		 pathogenic|likely pathogenic
NM_001386393.1(PANK2):c.1009G>T (p.Asp337Tyr) single nucleotide variant Pigmentary pallidal degeneration [RCV003389134] Chr20:3912561 [GRCh38]
Chr20:3893208 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_153638.4(PANK2):c.227C>T (p.Ser76Leu) single nucleotide variant not provided [RCV003480347] Chr20:3889327 [GRCh38]
Chr20:3869974 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.416G>C (p.Arg139Pro) single nucleotide variant not specified [RCV003404922] Chr20:3908043 [GRCh38]
Chr20:3888690 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter) single nucleotide variant PANK2-related disorder [RCV003417114]|Pigmentary pallidal degeneration [RCV003502731] Chr20:3889534 [GRCh38]
Chr20:3870181 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile) single nucleotide variant Pigmentary pallidal degeneration [RCV003388770] Chr20:3910812 [GRCh38]
Chr20:3891459 [GRCh37]
Chr20:20p13		 conflicting interpretations of pathogenicity|uncertain significance
NC_000020.10:g.(?_3869569)_(3893282_3897573)dup duplication not specified [RCV003405034] Chr20:3869569..3893282 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1254G>C (p.Thr418=) single nucleotide variant not provided [RCV003440338] Chr20:3918718 [GRCh38]
Chr20:3899365 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.141C>T (p.Ser47=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612280] Chr20:3889241 [GRCh38]
Chr20:3869888 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.849G>A (p.Gly283=) single nucleotide variant Pigmentary pallidal degeneration [RCV003825084] Chr20:3910774 [GRCh38]
Chr20:3891421 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.7A>C (p.Arg3=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611096] Chr20:3889107 [GRCh38]
Chr20:3869754 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.213G>C (p.Pro71=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612966] Chr20:3889313 [GRCh38]
Chr20:3869960 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.45G>A (p.Ala15=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612276] Chr20:3889145 [GRCh38]
Chr20:3869792 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.108C>T (p.Ser36=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502996] Chr20:3889208 [GRCh38]
Chr20:3869855 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.189G>A (p.Pro63=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503705] Chr20:3889289 [GRCh38]
Chr20:3869936 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.18C>T (p.Pro6=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611374] Chr20:3889118 [GRCh38]
Chr20:3869765 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.84C>T (p.Phe28=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611460] Chr20:3889184 [GRCh38]
Chr20:3869831 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.652-9_652-5del deletion Pigmentary pallidal degeneration [RCV003876252] Chr20:3910565..3910569 [GRCh38]
Chr20:3891212..3891216 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.264C>T (p.Gly88=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612738] Chr20:3889364 [GRCh38]
Chr20:3870011 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.652-12A>G single nucleotide variant Pigmentary pallidal degeneration [RCV003876322] Chr20:3910565 [GRCh38]
Chr20:3891212 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.270C>T (p.Arg90=) single nucleotide variant Pigmentary pallidal degeneration [RCV003876411] Chr20:3889700 [GRCh38]
Chr20:3870347 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.42G>A (p.Ala14=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611994] Chr20:3889142 [GRCh38]
Chr20:3869789 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.81C>G (p.Leu27=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611871] Chr20:3889181 [GRCh38]
Chr20:3869828 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.273G>C (p.Pro91=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503796] Chr20:3889373 [GRCh38]
Chr20:3870020 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.252C>A (p.Thr84=) single nucleotide variant Pigmentary pallidal degeneration [RCV003831136] Chr20:3889682 [GRCh38]
Chr20:3870329 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.9G>A (p.Arg3=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611262] Chr20:3889109 [GRCh38]
Chr20:3869756 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.114C>A (p.Thr38=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611365] Chr20:3889214 [GRCh38]
Chr20:3869861 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.24C>T (p.His8=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612463] Chr20:3889124 [GRCh38]
Chr20:3869771 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.12C>G (p.Leu4=) single nucleotide variant Pigmentary pallidal degeneration [RCV003613396] Chr20:3889112 [GRCh38]
Chr20:3869759 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.252C>T (p.Arg84=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503666] Chr20:3889352 [GRCh38]
Chr20:3869999 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.273G>A (p.Pro91=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612259] Chr20:3889373 [GRCh38]
Chr20:3870020 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.153C>T (p.Asp51=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612146] Chr20:3889253 [GRCh38]
Chr20:3869900 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.123C>T (p.Ser41=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502280] Chr20:3889223 [GRCh38]
Chr20:3869870 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.243G>T (p.Ala81=) single nucleotide variant Pigmentary pallidal degeneration [RCV003503674] Chr20:3889343 [GRCh38]
Chr20:3869990 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.66G>C (p.Gly22=) single nucleotide variant Pigmentary pallidal degeneration [RCV003879643] Chr20:3889166 [GRCh38]
Chr20:3869813 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.69A>G (p.Leu23=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502117] Chr20:3889169 [GRCh38]
Chr20:3869816 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.89G>C (p.Arg30Pro) single nucleotide variant Pigmentary pallidal degeneration [RCV003504252] Chr20:3889189 [GRCh38]
Chr20:3869836 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.222C>G (p.Ala74=) single nucleotide variant Pigmentary pallidal degeneration [RCV003504435] Chr20:3889322 [GRCh38]
Chr20:3869969 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.102C>G (p.Val34=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611298] Chr20:3889532 [GRCh38]
Chr20:3870179 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1083-12C>T single nucleotide variant Pigmentary pallidal degeneration [RCV003611351] Chr20:3916915 [GRCh38]
Chr20:3897562 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.906-12T>A single nucleotide variant Pigmentary pallidal degeneration [RCV003611421] Chr20:3912446 [GRCh38]
Chr20:3893093 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.873C>G (p.Ser291=) single nucleotide variant Pigmentary pallidal degeneration [RCV003835311] Chr20:3910798 [GRCh38]
Chr20:3891445 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.369C>T (p.Ile123=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612632] Chr20:3907996 [GRCh38]
Chr20:3888643 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1082+12TG[4] microsatellite Pigmentary pallidal degeneration [RCV003851292] Chr20:3912645..3912646 [GRCh38]
Chr20:3893292..3893293 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.39G>T (p.Arg13=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611701] Chr20:3889469 [GRCh38]
Chr20:3870116 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.261C>T (p.Ser87=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611681] Chr20:3889691 [GRCh38]
Chr20:3870338 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1140C>G (p.Ala380=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612813] Chr20:3916984 [GRCh38]
Chr20:3897631 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.225del (p.Arg76fs) deletion Pigmentary pallidal degeneration [RCV003611789] Chr20:3889655 [GRCh38]
Chr20:3870302 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.-7T>C single nucleotide variant Pigmentary pallidal degeneration [RCV003611800] Chr20:3889424 [GRCh38]
Chr20:3870071 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.441T>G (p.Ala147=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612954] Chr20:3908068 [GRCh38]
Chr20:3888715 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.87T>G (p.Ala29=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611816] Chr20:3889517 [GRCh38]
Chr20:3870164 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.339C>T (p.Val113=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612927] Chr20:3907966 [GRCh38]
Chr20:3888613 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.298+11del deletion Pigmentary pallidal degeneration [RCV003611806] Chr20:3889738 [GRCh38]
Chr20:3870385 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1357C>T (p.Leu453Phe) single nucleotide variant Pigmentary pallidal degeneration [RCV003611809] Chr20:3923268 [GRCh38]
Chr20:3903915 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.905+10A>G single nucleotide variant Pigmentary pallidal degeneration [RCV003611822] Chr20:3910840 [GRCh38]
Chr20:3891487 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.951C>T (p.Gly317=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611824] Chr20:3912503 [GRCh38]
Chr20:3893150 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1082+20C>T single nucleotide variant Pigmentary pallidal degeneration [RCV003611938] Chr20:3912654 [GRCh38]
Chr20:3893301 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1025A>C (p.Asp342Ala) single nucleotide variant Pigmentary pallidal degeneration [RCV003613074] Chr20:3912577 [GRCh38]
Chr20:3893224 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.298+12G>C single nucleotide variant Pigmentary pallidal degeneration [RCV003613081] Chr20:3889740 [GRCh38]
Chr20:3870387 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1008G>A (p.Val336=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611962] Chr20:3912560 [GRCh38]
Chr20:3893207 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1207-5C>T single nucleotide variant Pigmentary pallidal degeneration [RCV003611982] Chr20:3918666 [GRCh38]
Chr20:3899313 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.949_961del (p.Gly317fs) deletion Pigmentary pallidal degeneration [RCV003613067] Chr20:3912500..3912512 [GRCh38]
Chr20:3893147..3893159 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1207-20C>A single nucleotide variant Pigmentary pallidal degeneration [RCV003612127] Chr20:3918651 [GRCh38]
Chr20:3899298 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.246C>T (p.Gly82=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612061] Chr20:3889676 [GRCh38]
Chr20:3870323 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.189_201del (p.Ala64fs) deletion Pigmentary pallidal degeneration [RCV003613234] Chr20:3889616..3889628 [GRCh38]
Chr20:3870263..3870275 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.165C>T (p.Arg55=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612174] Chr20:3889595 [GRCh38]
Chr20:3870242 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1041C>T (p.Asp347=) single nucleotide variant Pigmentary pallidal degeneration [RCV003613290] Chr20:3912593 [GRCh38]
Chr20:3893240 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.336G>A (p.Leu112=) single nucleotide variant Pigmentary pallidal degeneration [RCV003613295] Chr20:3907963 [GRCh38]
Chr20:3888610 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.262del (p.Arg88fs) deletion Pigmentary pallidal degeneration [RCV003613368] Chr20:3889690 [GRCh38]
Chr20:3870337 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.759T>C (p.Phe253=) single nucleotide variant Pigmentary pallidal degeneration [RCV003613364] Chr20:3910684 [GRCh38]
Chr20:3891331 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.34C>T (p.Leu12=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612266] Chr20:3889464 [GRCh38]
Chr20:3870111 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.651+16C>G single nucleotide variant Pigmentary pallidal degeneration [RCV003611132] Chr20:3908294 [GRCh38]
Chr20:3888941 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.987T>C (p.Ser329=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612297] Chr20:3912539 [GRCh38]
Chr20:3893186 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.750C>T (p.Cys250=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612311] Chr20:3910675 [GRCh38]
Chr20:3891322 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.204G>T (p.Ser68=) single nucleotide variant Pigmentary pallidal degeneration [RCV003613455] Chr20:3889634 [GRCh38]
Chr20:3870281 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.192G>A (p.Ala64=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611041] Chr20:3889622 [GRCh38]
Chr20:3870269 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1170C>T (p.Asn390=) single nucleotide variant Pigmentary pallidal degeneration [RCV003613459] Chr20:3917014 [GRCh38]
Chr20:3897661 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.105G>T (p.Ser35=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611183] Chr20:3889535 [GRCh38]
Chr20:3870182 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.298+20C>T single nucleotide variant Pigmentary pallidal degeneration [RCV003612398] Chr20:3889748 [GRCh38]
Chr20:3870395 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.387G>A (p.Glu129=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611104] Chr20:3908014 [GRCh38]
Chr20:3888661 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.258A>C (p.Gly86=) single nucleotide variant Pigmentary pallidal degeneration [RCV003851161] Chr20:3889358 [GRCh38]
Chr20:3870005 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1080A>C (p.Ser360=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611476] Chr20:3912632 [GRCh38]
Chr20:3893279 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1082+19del deletion Pigmentary pallidal degeneration [RCV003612124] Chr20:3912652 [GRCh38]
Chr20:3893299 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1083-18T>C single nucleotide variant Pigmentary pallidal degeneration [RCV003613246] Chr20:3916909 [GRCh38]
Chr20:3897556 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.6G>A (p.Gly2=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612159] Chr20:3889436 [GRCh38]
Chr20:3870083 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1207-16T>C single nucleotide variant Pigmentary pallidal degeneration [RCV003613279] Chr20:3918655 [GRCh38]
Chr20:3899302 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1184C>A (p.Ala395Glu) single nucleotide variant Pigmentary pallidal degeneration [RCV003502048] Chr20:3917028 [GRCh38]
Chr20:3897675 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.652-18A>G single nucleotide variant Pigmentary pallidal degeneration [RCV003612243] Chr20:3910559 [GRCh38]
Chr20:3891206 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.52C>G (p.Arg18Gly) single nucleotide variant Pigmentary pallidal degeneration [RCV003502134] Chr20:3889482 [GRCh38]
Chr20:3870129 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.817T>C (p.Tyr273His) single nucleotide variant Pigmentary pallidal degeneration [RCV003851493] Chr20:3910742 [GRCh38]
Chr20:3891389 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1026T>C (p.Asp342=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612284] Chr20:3912578 [GRCh38]
Chr20:3893225 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.819T>C (p.Tyr273=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502345] Chr20:3910744 [GRCh38]
Chr20:3891391 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.63G>C (p.Ala21=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502357] Chr20:3889493 [GRCh38]
Chr20:3870140 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.747G>A (p.Gln249=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502358] Chr20:3910672 [GRCh38]
Chr20:3891319 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1083-1G>A single nucleotide variant Pigmentary pallidal degeneration [RCV003611135] Chr20:3916926 [GRCh38]
Chr20:3897573 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.493C>T (p.Leu165=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611194] Chr20:3908120 [GRCh38]
Chr20:3888767 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1314A>G (p.Ala438=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612986] Chr20:3918778 [GRCh38]
Chr20:3899425 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.906-13T>G single nucleotide variant Pigmentary pallidal degeneration [RCV003612998] Chr20:3912445 [GRCh38]
Chr20:3893092 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1206+11A>C single nucleotide variant Pigmentary pallidal degeneration [RCV003613019] Chr20:3917061 [GRCh38]
Chr20:3897708 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.738A>G (p.Gly246=) single nucleotide variant Pigmentary pallidal degeneration [RCV003832815] Chr20:3910663 [GRCh38]
Chr20:3891310 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.723A>G (p.Ser241=) single nucleotide variant Pigmentary pallidal degeneration [RCV003613105] Chr20:3910648 [GRCh38]
Chr20:3891295 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.126C>T (p.Ala42=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612556] Chr20:3889556 [GRCh38]
Chr20:3870203 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.96C>T (p.Thr32=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502102] Chr20:3889526 [GRCh38]
Chr20:3870173 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.806del (p.Asp268_Leu269insTer) deletion Pigmentary pallidal degeneration [RCV003502152] Chr20:3910729 [GRCh38]
Chr20:3891376 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.298+13T>A single nucleotide variant Pigmentary pallidal degeneration [RCV003611746] Chr20:3889741 [GRCh38]
Chr20:3870388 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.873C>A (p.Ser291=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612821] Chr20:3910798 [GRCh38]
Chr20:3891445 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.186G>T (p.Val62=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502203] Chr20:3889616 [GRCh38]
Chr20:3870263 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.345G>A (p.Leu115=) single nucleotide variant Pigmentary pallidal degeneration [RCV003613319] Chr20:3907972 [GRCh38]
Chr20:3888619 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.27A>T (p.Arg9=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502323] Chr20:3889457 [GRCh38]
Chr20:3870104 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.651+19A>G single nucleotide variant Pigmentary pallidal degeneration [RCV003613401] Chr20:3908297 [GRCh38]
Chr20:3888944 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.348A>G (p.Val116=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612101] Chr20:3907975 [GRCh38]
Chr20:3888622 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.279C>T (p.Ser93=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502390] Chr20:3889709 [GRCh38]
Chr20:3870356 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1333-4T>A single nucleotide variant Pigmentary pallidal degeneration [RCV003611017] Chr20:3923240 [GRCh38]
Chr20:3903887 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.371_380del (p.Thr124fs) deletion Pigmentary pallidal degeneration [RCV003855854] Chr20:3907997..3908006 [GRCh38]
Chr20:3888644..3888653 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.145C>A (p.Arg49=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612330] Chr20:3889575 [GRCh38]
Chr20:3870222 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.27A>G (p.Arg9=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611192] Chr20:3889457 [GRCh38]
Chr20:3870104 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.171G>C (p.Ala57=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612470] Chr20:3889601 [GRCh38]
Chr20:3870248 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.299-1G>A single nucleotide variant Pigmentary pallidal degeneration [RCV003502041] Chr20:3907925 [GRCh38]
Chr20:3888572 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.445G>A (p.Gly149Arg) single nucleotide variant Pigmentary pallidal degeneration [RCV003502042] Chr20:3908072 [GRCh38]
Chr20:3888719 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.604dup (p.Cys202fs) duplication Pigmentary pallidal degeneration [RCV003611272] Chr20:3908227..3908228 [GRCh38]
Chr20:3888874..3888875 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.597T>G (p.Thr199=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612533] Chr20:3908224 [GRCh38]
Chr20:3888871 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1332+8G>C single nucleotide variant Pigmentary pallidal degeneration [RCV003612039] Chr20:3918804 [GRCh38]
Chr20:3899451 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.47G>T (p.Gly16Val) single nucleotide variant Pigmentary pallidal degeneration [RCV003612140] Chr20:3889477 [GRCh38]
Chr20:3870124 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1332+16C>T single nucleotide variant Pigmentary pallidal degeneration [RCV003502355] Chr20:3918812 [GRCh38]
Chr20:3899459 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.273C>T (p.Val91=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502370] Chr20:3889703 [GRCh38]
Chr20:3870350 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.858C>T (p.Ile286=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611798] Chr20:3910783 [GRCh38]
Chr20:3891430 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.-28C>A single nucleotide variant Pigmentary pallidal degeneration [RCV003611829] Chr20:3889403 [GRCh38]
Chr20:3870050 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.81C>T (p.Gly27=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612939] Chr20:3889511 [GRCh38]
Chr20:3870158 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.192G>C (p.Ala64=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611095] Chr20:3889622 [GRCh38]
Chr20:3870269 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.652-14T>C single nucleotide variant Pigmentary pallidal degeneration [RCV003834731] Chr20:3910563 [GRCh38]
Chr20:3891210 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.185_197del (p.Val62fs) deletion Pigmentary pallidal degeneration [RCV003502040] Chr20:3889610..3889622 [GRCh38]
Chr20:3870257..3870269 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1139C>T (p.Ala380Val) single nucleotide variant Pigmentary pallidal degeneration [RCV003502045] Chr20:3916983 [GRCh38]
Chr20:3897630 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.1145C>T (p.Ala382Val) single nucleotide variant Pigmentary pallidal degeneration [RCV003502046] Chr20:3916989 [GRCh38]
Chr20:3897636 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.477G>A (p.Glu159=) single nucleotide variant Pigmentary pallidal degeneration [RCV003814960] Chr20:3908104 [GRCh38]
Chr20:3888751 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.635A>G (p.Glu212Gly) single nucleotide variant Pigmentary pallidal degeneration [RCV003502043] Chr20:3908262 [GRCh38]
Chr20:3888909 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.636G>T (p.Glu212Asp) single nucleotide variant Pigmentary pallidal degeneration [RCV003502044] Chr20:3908263 [GRCh38]
Chr20:3888910 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1172T>C (p.Ile391Thr) single nucleotide variant Pigmentary pallidal degeneration [RCV003502047] Chr20:3917016 [GRCh38]
Chr20:3897663 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.1264C>T (p.Arg422Trp) single nucleotide variant Pigmentary pallidal degeneration [RCV003502049] Chr20:3918728 [GRCh38]
Chr20:3899375 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.1330G>A (p.Glu444Lys) single nucleotide variant Pigmentary pallidal degeneration [RCV003502050] Chr20:3918794 [GRCh38]
Chr20:3899441 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.186G>A (p.Val62=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611967] Chr20:3889616 [GRCh38]
Chr20:3870263 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1082+9_1082+10dup duplication Pigmentary pallidal degeneration [RCV003612005] Chr20:3912642..3912643 [GRCh38]
Chr20:3893289..3893290 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.6G>C (p.Gly2=) single nucleotide variant Pigmentary pallidal degeneration [RCV003613120] Chr20:3889436 [GRCh38]
Chr20:3870083 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.327T>G (p.Gly109=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502212] Chr20:3907954 [GRCh38]
Chr20:3888601 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.240C>T (p.Tyr80=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612096] Chr20:3889670 [GRCh38]
Chr20:3870317 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.298+9T>C single nucleotide variant Pigmentary pallidal degeneration [RCV003613212] Chr20:3889737 [GRCh38]
Chr20:3870384 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.90C>A (p.Ser30=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502131] Chr20:3889520 [GRCh38]
Chr20:3870167 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.876A>G (p.Lys292=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502457] Chr20:3910801 [GRCh38]
Chr20:3891448 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.298+12G>T single nucleotide variant Pigmentary pallidal degeneration [RCV003612103] Chr20:3889740 [GRCh38]
Chr20:3870387 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.63G>A (p.Ala21=) single nucleotide variant Pigmentary pallidal degeneration [RCV003613345] Chr20:3889493 [GRCh38]
Chr20:3870140 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.57C>T (p.Leu19=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612252] Chr20:3889487 [GRCh38]
Chr20:3870134 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.393A>C (p.Glu131Asp) single nucleotide variant Pigmentary pallidal degeneration [RCV003612267] Chr20:3908020 [GRCh38]
Chr20:3888667 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1333-8T>C single nucleotide variant Pigmentary pallidal degeneration [RCV003611785] Chr20:3923236 [GRCh38]
Chr20:3903883 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.183G>A (p.Ser61=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612878] Chr20:3889613 [GRCh38]
Chr20:3870260 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1329C>T (p.His443=) single nucleotide variant Pigmentary pallidal degeneration [RCV003502191] Chr20:3918793 [GRCh38]
Chr20:3899440 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.45A>C (p.Gly15=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611071] Chr20:3889475 [GRCh38]
Chr20:3870122 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.216G>A (p.Thr72=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611078] Chr20:3889646 [GRCh38]
Chr20:3870293 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1358T>A (p.Leu453His) single nucleotide variant Pigmentary pallidal degeneration [RCV003611136] Chr20:3923269 [GRCh38]
Chr20:3903916 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.-37C>G single nucleotide variant Pigmentary pallidal degeneration [RCV003612329] Chr20:3889394 [GRCh38]
Chr20:3870041 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.652-7A>G single nucleotide variant Pigmentary pallidal degeneration [RCV003849553] Chr20:3910570 [GRCh38]
Chr20:3891217 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.9C>T (p.Gly3=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611819] Chr20:3889439 [GRCh38]
Chr20:3870086 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.526C>G (p.Arg176Gly) single nucleotide variant Pigmentary pallidal degeneration [RCV003612903] Chr20:3908153 [GRCh38]
Chr20:3888800 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1254G>A (p.Thr418=) single nucleotide variant Pigmentary pallidal degeneration [RCV003612387] Chr20:3918718 [GRCh38]
Chr20:3899365 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1278T>C (p.Tyr426=) single nucleotide variant Pigmentary pallidal degeneration [RCV003611921] Chr20:3918742 [GRCh38]
Chr20:3899389 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.-4G>C single nucleotide variant Pigmentary pallidal degeneration [RCV003611252] Chr20:3889427 [GRCh38]
Chr20:3870074 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1261_1262del (p.Met421fs) deletion Pigmentary pallidal degeneration [RCV003612472] Chr20:3918725..3918726 [GRCh38]
Chr20:3899372..3899373 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.687A>G (p.Leu229=) single nucleotide variant Pigmentary pallidal degeneration [RCV003820451] Chr20:3910612 [GRCh38]
Chr20:3891259 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.15C>T (p.Leu5=) single nucleotide variant Pigmentary pallidal degeneration [RCV003863919] Chr20:3889445 [GRCh38]
Chr20:3870092 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.299-12T>G single nucleotide variant Pigmentary pallidal degeneration [RCV003860106] Chr20:3907914 [GRCh38]
Chr20:3888561 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.-13A>G single nucleotide variant Pigmentary pallidal degeneration [RCV003848771] Chr20:3889418 [GRCh38]
Chr20:3870065 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1082+11A>G single nucleotide variant Pigmentary pallidal degeneration [RCV003859991] Chr20:3912645 [GRCh38]
Chr20:3893292 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.148T>C (p.Leu50=) single nucleotide variant Pigmentary pallidal degeneration [RCV003860088] Chr20:3889248 [GRCh38]
Chr20:3869895 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.652-19C>T single nucleotide variant Pigmentary pallidal degeneration [RCV003863565] Chr20:3910558 [GRCh38]
Chr20:3891205 [GRCh37]
Chr20:20p13		 likely benign
GRCh37/hg19 20p13(chr20:2640674-4323312)x3 copy number gain not specified [RCV003986138] Chr20:2640674..4323312 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.299-12T>C single nucleotide variant Pigmentary pallidal degeneration [RCV003867231] Chr20:3907914 [GRCh38]
Chr20:3888561 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1083-9_1083-8insTTCCCT insertion Pigmentary pallidal degeneration [RCV003862809] Chr20:3916918..3916919 [GRCh38]
Chr20:3897565..3897566 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.93C>T (p.Ala31=) single nucleotide variant Pigmentary pallidal degeneration [RCV003861474] Chr20:3889523 [GRCh38]
Chr20:3870170 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1083-13del deletion Pigmentary pallidal degeneration [RCV003869963] Chr20:3916907 [GRCh38]
Chr20:3897554 [GRCh37]
Chr20:20p13		 benign
NM_001386393.1(PANK2):c.951C>G (p.Gly317=) single nucleotide variant Pigmentary pallidal degeneration [RCV003870739] Chr20:3912503 [GRCh38]
Chr20:3893150 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1332+14T>G single nucleotide variant Pigmentary pallidal degeneration [RCV003820383] Chr20:3918810 [GRCh38]
Chr20:3899457 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.906-8A>C single nucleotide variant Pigmentary pallidal degeneration [RCV003862499] Chr20:3912450 [GRCh38]
Chr20:3893097 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.1025A>T (p.Asp342Val) single nucleotide variant Pigmentary pallidal degeneration [RCV003862633] Chr20:3912577 [GRCh38]
Chr20:3893224 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.1207-6G>A single nucleotide variant Pigmentary pallidal degeneration [RCV003862730] Chr20:3918665 [GRCh38]
Chr20:3899312 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.906-19T>A single nucleotide variant Pigmentary pallidal degeneration [RCV003861153] Chr20:3912439 [GRCh38]
Chr20:3893086 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.299-6A>G single nucleotide variant Pigmentary pallidal degeneration [RCV003818804] Chr20:3907920 [GRCh38]
Chr20:3888567 [GRCh37]
Chr20:20p13		 likely benign
NM_153638.4(PANK2):c.126G>T (p.Pro42=) single nucleotide variant Pigmentary pallidal degeneration [RCV003823552] Chr20:3889226 [GRCh38]
Chr20:3869873 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.117G>A (p.Glu39=) single nucleotide variant PANK2-related disorder [RCV003943968] Chr20:3889547 [GRCh38]
Chr20:3870194 [GRCh37]
Chr20:20p13		 likely benign
GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3 copy number gain not provided [RCV003885494] Chr20:68351..16142323 [GRCh37]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 copy number gain not provided [RCV003885495] Chr20:68351..23860313 [GRCh37]
Chr20:20p13-11.21		 pathogenic
NM_001386393.1(PANK2):c.1253C>G (p.Thr418Arg) single nucleotide variant not specified [RCV004526424] Chr20:3918717 [GRCh38]
Chr20:3899364 [GRCh37]
Chr20:20p13		 uncertain significance
NM_153638.4(PANK2):c.-4G>T single nucleotide variant PANK2-related disorder [RCV003959774] Chr20:3889097 [GRCh38]
Chr20:3869744 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.-24G>C single nucleotide variant Inborn genetic diseases [RCV004500242] Chr20:3889407 [GRCh38]
Chr20:3870054 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.46G>A (p.Gly16Arg) single nucleotide variant Inborn genetic diseases [RCV004500245] Chr20:3889476 [GRCh38]
Chr20:3870123 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.253T>C (p.Ser85Pro) single nucleotide variant Inborn genetic diseases [RCV004500248] Chr20:3889683 [GRCh38]
Chr20:3870330 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.877G>A (p.Asp293Asn) single nucleotide variant Inborn genetic diseases [RCV004500240] Chr20:3910802 [GRCh38]
Chr20:3891449 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.143G>C (p.Arg48Pro) single nucleotide variant Inborn genetic diseases [RCV004500247] Chr20:3889573 [GRCh38]
Chr20:3870220 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.5G>C (p.Gly2Ala) single nucleotide variant Inborn genetic diseases [RCV004500244] Chr20:3889435 [GRCh38]
Chr20:3870082 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1151T>G (p.Leu384Trp) single nucleotide variant not specified [RCV004527214] Chr20:3916995 [GRCh38]
Chr20:3897642 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.1267dup (p.Leu423fs) duplication Pigmentary pallidal degeneration [RCV004577098] Chr20:3918730..3918731 [GRCh38]
Chr20:3899377..3899378 [GRCh37]
Chr20:20p13		 likely pathogenic
NM_001386393.1(PANK2):c.290A>C (p.Lys97Thr) single nucleotide variant Inborn genetic diseases [RCV004500249] Chr20:3889720 [GRCh38]
Chr20:3870367 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.823C>A (p.Leu275Met) single nucleotide variant Inborn genetic diseases [RCV004500239] Chr20:3910748 [GRCh38]
Chr20:3891395 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.-3A>G single nucleotide variant Inborn genetic diseases [RCV004500243] Chr20:3889428 [GRCh38]
Chr20:3870075 [GRCh37]
Chr20:20p13		 likely benign
NC_000020.10:g.(?_3869748)_(3903941_?)del deletion Pigmentary pallidal degeneration [RCV004579389] Chr20:3869748..3903941 [GRCh37]
Chr20:20p13		 pathogenic
NC_000020.10:g.(?_3869748)_(3888945_?)del deletion Pigmentary pallidal degeneration [RCV004579390] Chr20:3869748..3888945 [GRCh37]
Chr20:20p13		 pathogenic
NC_000020.10:g.(?_3190198)_(6760201_?)del deletion Inosine triphosphatase deficiency [RCV004579445] Chr20:3190198..6760201 [GRCh37]
Chr20:20p13-12.3		 pathogenic
NC_000020.10:g.(?_2361615)_(3903941_?)dup duplication not provided [RCV004580998] Chr20:2361615..3903941 [GRCh37]
Chr20:20p13		 uncertain significance
NC_000020.10:g.(?_3888553)_(3893301_?)dup duplication Pigmentary pallidal degeneration [RCV004579392] Chr20:3888553..3893301 [GRCh37]
Chr20:20p13		 pathogenic
NC_000020.10:g.(?_3888553)_(3893301_?)del deletion Pigmentary pallidal degeneration [RCV004579391] Chr20:3888553..3893301 [GRCh37]
Chr20:20p13		 pathogenic
NM_001386393.1(PANK2):c.42G>A (p.Met14Ile) single nucleotide variant Inborn genetic diseases [RCV004664130] Chr20:3889472 [GRCh38]
Chr20:3870119 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.284G>A (p.Arg95Lys) single nucleotide variant Inborn genetic diseases [RCV004650835] Chr20:3889714 [GRCh38]
Chr20:3870361 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.535A>G (p.Thr179Ala) single nucleotide variant Optic atrophy [RCV004817605] Chr20:3908162 [GRCh38]
Chr20:3888809 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001386393.1(PANK2):c.298+3A>G single nucleotide variant PANK2-related disorder [RCV004756831] Chr20:3889731 [GRCh38]
Chr20:3870378 [GRCh37]
Chr20:20p13		 likely benign
NM_001386393.1(PANK2):c.298+5G>C single nucleotide variant not provided [RCV004720158] Chr20:3889733 [GRCh38]
Chr20:3870380 [GRCh37]
Chr20:20p13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2941
Count of miRNA genes:1109
Interacting mature miRNAs:1402
Transcripts:ENST00000316562, ENST00000336066, ENST00000464452, ENST00000471830, ENST00000495692, ENST00000497424, ENST00000610179
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597331211GWAS1427285_Hprostate cancer QTL GWAS1427285 (human)0.0000005prostate cancer2039066663906667Human
597606287GWAS1663147_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1663147 (human)7e-16aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)2039254313925432Human
597162197GWAS1258271_Hpantothenate measurement QTL GWAS1258271 (human)0.000005pantothenate measurement2039229873922988Human
597599421GWAS1656281_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1656281 (human)2e-12aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)2039254313925432Human
597597926GWAS1654786_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1654786 (human)1e-12aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)2039254313925432Human
597605574GWAS1662434_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1662434 (human)2e-20aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)2039254313925432Human
597609796GWAS1666656_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1666656 (human)3e-18aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)2039254313925432Human
597103928GWAS1200002_Haspartate aminotransferase measurement QTL GWAS1200002 (human)2e-08aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)2039254313925432Human
597167975GWAS1264049_Haspartate aminotransferase measurement QTL GWAS1264049 (human)4e-11aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)2039254313925432Human

Markers in Region
RH48352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37203,898,763 - 3,898,889UniSTSGRCh37
Build 36203,846,763 - 3,846,889RGDNCBI36
Celera203,960,636 - 3,960,762RGD
Cytogenetic Map20p13UniSTS
HuRef203,847,416 - 3,847,542UniSTS
GeneMap99-GB4 RH Map2021.92UniSTS
WI-17847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37203,900,559 - 3,900,691UniSTSGRCh37
Build 36203,848,559 - 3,848,691RGDNCBI36
Celera203,962,432 - 3,962,564RGD
Cytogenetic Map20p13UniSTS
HuRef203,849,212 - 3,849,344UniSTS
GeneMap99-GB4 RH Map2021.61UniSTS
GeneMap99-GB4 RH Map2011.67UniSTS
Whitehead-RH Map2028.3UniSTS
RH11899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37203,904,165 - 3,904,266UniSTSGRCh37
Build 36203,852,165 - 3,852,266RGDNCBI36
Celera203,966,038 - 3,966,139RGD
Cytogenetic Map20p13UniSTS
HuRef203,852,818 - 3,852,919UniSTS
GeneMap99-GB4 RH Map2012.09UniSTS
NCBI RH Map2072.0UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF086501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF494409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL519408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL532307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF223391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF698882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK000010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX118574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU595875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY054724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000316562   ⟹   ENSP00000313377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl203,888,923 - 3,929,887 (+)Ensembl
Ensembl Acc Id: ENST00000336066   ⟹   ENSP00000477229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl203,889,389 - 3,923,855 (+)Ensembl
Ensembl Acc Id: ENST00000464452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl203,908,690 - 3,917,050 (+)Ensembl
Ensembl Acc Id: ENST00000471830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl203,891,240 - 3,910,816 (+)Ensembl
Ensembl Acc Id: ENST00000495692   ⟹   ENSP00000476745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl203,888,934 - 3,918,789 (+)Ensembl
Ensembl Acc Id: ENST00000497424   ⟹   ENSP00000417609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl203,888,839 - 3,926,958 (+)Ensembl
Ensembl Acc Id: ENST00000610179   ⟹   ENSP00000477429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl203,889,387 - 3,929,887 (+)Ensembl
Ensembl Acc Id: ENST00000619433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl203,924,818 - 3,929,873 (+)Ensembl
Ensembl Acc Id: ENST00000621507   ⟹   ENSP00000481523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl203,889,816 - 3,923,855 (+)Ensembl
Ensembl Acc Id: ENST00000621891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl203,929,222 - 3,929,882 (+)Ensembl
Ensembl Acc Id: ENST00000643504   ⟹   ENSP00000495157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl203,889,387 - 3,926,899 (+)Ensembl
Ensembl Acc Id: ENST00000646394   ⟹   ENSP00000496112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl203,889,670 - 3,923,631 (+)Ensembl
RefSeq Acc Id: NM_001324191   ⟹   NP_001311120
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,889,387 - 3,929,887 (+)NCBI
CHM1_1203,869,581 - 3,910,516 (+)NCBI
T2T-CHM13v2.0203,920,323 - 3,960,811 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324192   ⟹   NP_001311121
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,888,934 - 3,908,625 (+)NCBI
CHM1_1203,869,581 - 3,889,261 (+)NCBI
T2T-CHM13v2.0203,919,870 - 3,939,531 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324193   ⟹   NP_001311122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,889,816 - 3,929,887 (+)NCBI
CHM1_1203,870,449 - 3,910,516 (+)NCBI
T2T-CHM13v2.0203,920,752 - 3,960,811 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386393   ⟹   NP_001373322
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,889,387 - 3,929,887 (+)NCBI
T2T-CHM13v2.0203,920,323 - 3,960,811 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024960   ⟹   NP_079236
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,888,781 - 3,929,887 (+)NCBI
GRCh37203,869,486 - 3,904,538 (+)NCBI
Build 36203,817,486 - 3,852,502 (+)NCBI Archive
HuRef203,818,171 - 3,853,155 (+)ENTREZGENE
CHM1_1203,869,486 - 3,910,516 (+)NCBI
T2T-CHM13v2.0203,919,717 - 3,960,811 (+)NCBI
Sequence:
RefSeq Acc Id: NM_153638   ⟹   NP_705902
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,888,923 - 3,929,887 (+)NCBI
GRCh37203,869,486 - 3,904,538 (+)NCBI
Build 36203,817,742 - 3,852,502 (+)NCBI Archive
HuRef203,818,171 - 3,853,155 (+)ENTREZGENE
CHM1_1203,869,581 - 3,910,516 (+)NCBI
T2T-CHM13v2.0203,919,859 - 3,960,811 (+)NCBI
Sequence:
RefSeq Acc Id: NM_153640   ⟹   NP_705904
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,889,816 - 3,929,887 (+)NCBI
GRCh37203,869,486 - 3,904,538 (+)NCBI
Build 36203,818,463 - 3,852,502 (+)NCBI Archive
HuRef203,818,171 - 3,853,155 (+)ENTREZGENE
CHM1_1203,870,449 - 3,910,516 (+)NCBI
T2T-CHM13v2.0203,920,752 - 3,960,811 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136715
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,889,387 - 3,929,887 (+)NCBI
CHM1_1203,869,581 - 3,910,516 (+)NCBI
T2T-CHM13v2.0203,920,323 - 3,960,811 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001311120 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311121 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311122 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373322 (Get FASTA)   NCBI Sequence Viewer  
  NP_079236 (Get FASTA)   NCBI Sequence Viewer  
  NP_705902 (Get FASTA)   NCBI Sequence Viewer  
  NP_705904 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH65019 (Get FASTA)   NCBI Sequence Viewer  
  AAH93633 (Get FASTA)   NCBI Sequence Viewer  
  AAI01570 (Get FASTA)   NCBI Sequence Viewer  
  AAI01572 (Get FASTA)   NCBI Sequence Viewer  
  AAN32907 (Get FASTA)   NCBI Sequence Viewer  
  ACD11492 (Get FASTA)   NCBI Sequence Viewer  
  BAB13897 (Get FASTA)   NCBI Sequence Viewer  
  BAC05173 (Get FASTA)   NCBI Sequence Viewer  
  CAD28463 (Get FASTA)   NCBI Sequence Viewer  
  DAA00004 (Get FASTA)   NCBI Sequence Viewer  
  EAX10473 (Get FASTA)   NCBI Sequence Viewer  
  EAX10475 (Get FASTA)   NCBI Sequence Viewer  
  EAX10476 (Get FASTA)   NCBI Sequence Viewer  
  EAX10478 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000313377
  ENSP00000313377.4
  ENSP00000417609
  ENSP00000417609.1
  ENSP00000476745
  ENSP00000476745.1
  ENSP00000477229.2
  ENSP00000477429
  ENSP00000477429.2
  ENSP00000481523
  ENSP00000481523.1
  ENSP00000495157.2
  ENSP00000496112.1
GenBank Protein Q9BZ23 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_079236   ⟸   NM_024960
- Peptide Label: isoform 2
- UniProtKB: Q9BZ23 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_705902   ⟸   NM_153638
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9BZ23 (UniProtKB/Swiss-Prot),   Q9BYW5 (UniProtKB/Swiss-Prot),   Q8TCR5 (UniProtKB/Swiss-Prot),   Q8N7Q4 (UniProtKB/Swiss-Prot),   Q7RTX5 (UniProtKB/Swiss-Prot),   Q5T7I4 (UniProtKB/Swiss-Prot),   Q5T7I2 (UniProtKB/Swiss-Prot),   D3DVZ0 (UniProtKB/Swiss-Prot),   B2Z3X0 (UniProtKB/Swiss-Prot),   B1AK33 (UniProtKB/Swiss-Prot),   Q9HAF2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_705904   ⟸   NM_153640
- Peptide Label: isoform 2
- UniProtKB: Q9BZ23 (UniProtKB/Swiss-Prot),   Q6P1K9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311120   ⟸   NM_001324191
- Peptide Label: isoform 2
- UniProtKB: Q9BZ23 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311121   ⟸   NM_001324192
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001311122   ⟸   NM_001324193
- Peptide Label: isoform 6
- UniProtKB: V9GYH1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000481523   ⟸   ENST00000621507
Ensembl Acc Id: ENSP00000477429   ⟸   ENST00000610179
Ensembl Acc Id: ENSP00000477229   ⟸   ENST00000336066
Ensembl Acc Id: ENSP00000476745   ⟸   ENST00000495692
Ensembl Acc Id: ENSP00000417609   ⟸   ENST00000497424
Ensembl Acc Id: ENSP00000495157   ⟸   ENST00000643504
Ensembl Acc Id: ENSP00000313377   ⟸   ENST00000316562
Ensembl Acc Id: ENSP00000496112   ⟸   ENST00000646394
RefSeq Acc Id: NP_001373322   ⟸   NM_001386393
- Peptide Label: isoform 7 precursor
- UniProtKB: A0A2R8YF29 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BZ23-F1-model_v2 AlphaFold Q9BZ23 1-570 view protein structure

Promoters
RGD ID:6798898
Promoter ID:HG_KWN:38450
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_153638,   NM_153640,   OTTHUMT00000077787,   OTTHUMT00000077789,   UC002WKD.1,   UC002WKF.1,   UC010GBD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36203,817,556 - 3,818,172 (+)MPROMDB
RGD ID:6798882
Promoter ID:HG_KWN:38451
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000077790
Position:
Human AssemblyChrPosition (strand)Source
Build 36203,818,971 - 3,820,362 (+)MPROMDB
RGD ID:6798883
Promoter ID:HG_KWN:38452
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000077791
Position:
Human AssemblyChrPosition (strand)Source
Build 36203,836,676 - 3,837,522 (+)MPROMDB
RGD ID:6812068
Promoter ID:HG_ACW:48314
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:PANK2.KAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36203,851,106 - 3,851,606 (+)MPROMDB
RGD ID:13206267
Promoter ID:EPDNEW_H26714
Type:initiation region
Name:PANK2_3
Description:pantothenate kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26715  EPDNEW_H26716  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,889,042 - 3,889,102EPDNEW
RGD ID:13206269
Promoter ID:EPDNEW_H26715
Type:initiation region
Name:PANK2_1
Description:pantothenate kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26714  EPDNEW_H26716  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,889,387 - 3,889,447EPDNEW
RGD ID:13206271
Promoter ID:EPDNEW_H26716
Type:initiation region
Name:PANK2_2
Description:pantothenate kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26714  EPDNEW_H26715  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,889,839 - 3,889,899EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15894 AgrOrtholog
COSMIC PANK2 COSMIC
Ensembl Genes ENSG00000125779 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000316562 ENTREZGENE
  ENST00000316562.9 UniProtKB/Swiss-Prot
  ENST00000336066.8 UniProtKB/TrEMBL
  ENST00000495692 ENTREZGENE
  ENST00000495692.5 UniProtKB/TrEMBL
  ENST00000497424 ENTREZGENE
  ENST00000497424.5 UniProtKB/Swiss-Prot
  ENST00000610179 ENTREZGENE
  ENST00000610179.7 UniProtKB/Swiss-Prot
  ENST00000621507 ENTREZGENE
  ENST00000621507.1 UniProtKB/Swiss-Prot
  ENST00000643504.2 UniProtKB/TrEMBL
  ENST00000646394.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.420.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.420.510 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000125779 GTEx
HGNC ID HGNC:15894 ENTREZGENE
Human Proteome Map PANK2 Human Proteome Map
InterPro ATPase_NBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Type_II_PanK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80025 UniProtKB/Swiss-Prot
NCBI Gene 80025 ENTREZGENE
OMIM 606157 OMIM
PANTHER PANTOTHENATE KINASE 2, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12280 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fumble UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38048 PharmGKB
Superfamily-SCOP SSF53067 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8YF29 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YFI4_HUMAN UniProtKB/TrEMBL
  A4FU43_HUMAN UniProtKB/TrEMBL
  B1AK33 ENTREZGENE
  B2Z3X0 ENTREZGENE
  D3DVZ0 ENTREZGENE
  PANK2_HUMAN UniProtKB/Swiss-Prot
  Q52M85_HUMAN UniProtKB/TrEMBL
  Q5T7I2 ENTREZGENE
  Q5T7I4 ENTREZGENE
  Q6P1K9 ENTREZGENE, UniProtKB/TrEMBL
  Q7RTX5 ENTREZGENE
  Q8N7Q4 ENTREZGENE
  Q8TCR5 ENTREZGENE
  Q9BYW5 ENTREZGENE
  Q9BZ23 ENTREZGENE
  Q9HAF2 ENTREZGENE
  V9GYH1 ENTREZGENE, UniProtKB/TrEMBL
  V9GYZ0_HUMAN UniProtKB/TrEMBL
UniProt Secondary B1AK33 UniProtKB/Swiss-Prot
  B2Z3X0 UniProtKB/Swiss-Prot
  D3DVZ0 UniProtKB/Swiss-Prot
  Q5T7I2 UniProtKB/Swiss-Prot
  Q5T7I4 UniProtKB/Swiss-Prot
  Q7RTX5 UniProtKB/Swiss-Prot
  Q8N7Q4 UniProtKB/Swiss-Prot
  Q8TCR5 UniProtKB/Swiss-Prot
  Q9BYW5 UniProtKB/Swiss-Prot
  Q9HAF2 UniProtKB/Swiss-Prot