ATP13A2 (ATPase cation transporting 13A2) - Rat Genome Database

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Gene: ATP13A2 (ATPase cation transporting 13A2) Homo sapiens
Analyze
Symbol: ATP13A2
Name: ATPase cation transporting 13A2
RGD ID: 1342911
HGNC Page HGNC
Description: Enables ABC-type polyamine transporter activity; phosphatidic acid binding activity; and phosphatidylinositol-3,5-bisphosphate binding activity. Involved in several processes, including cellular metal ion homeostasis; macroautophagy; and regulation of protein metabolic process. Located in several cellular components, including cytoplasmic vesicle; neuronal cell body; and vacuole. Is integral component of lysosomal membrane. Implicated in Kufor-Rakeb syndrome; Parkinson's disease; and hereditary spastic paraplegia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATPase 13A2; ATPase type 13A2; cation-transporting ATPase 13A2; CLN12; FLJ26510; HSA9947; KRPPD; PARK9; Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome); polyamine-transporting ATPase 13A2; probable cation-transporting ATPase 13A2; putative ATPase; RP1-37C10.4; SPG78
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl116,985,958 - 17,011,928 (-)EnsemblGRCh38hg38GRCh38
GRCh38116,985,958 - 17,011,972 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37117,312,453 - 17,338,423 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36117,185,040 - 17,210,854 (-)NCBINCBI36hg18NCBI36
Build 34117,057,758 - 17,083,573NCBI
Celera115,634,791 - 15,660,760 (-)NCBI
Cytogenetic Map1p36.13NCBI
HuRef115,556,532 - 15,582,505 (-)NCBIHuRef
CHM1_1117,420,791 - 17,446,761 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
autophagosome organization  (IDA)
autophagosome-lysosome fusion  (IMP)
autophagy  (IMP)
cation transmembrane transport  (IEA)
cellular calcium ion homeostasis  (IBA,IDA)
cellular cation homeostasis  (TAS)
cellular iron ion homeostasis  (IMP)
cellular response to manganese ion  (IMP,TAS)
cellular response to oxidative stress  (IMP,TAS)
cellular response to zinc ion  (TAS)
cellular zinc ion homeostasis  (IMP)
extracellular exosome biogenesis  (IMP)
ion transmembrane transport  (TAS)
lipid homeostasis  (IMP)
lysosomal transport  (IMP)
negative regulation of lysosomal protein catabolic process  (TAS)
negative regulation of neuron death  (ISS,TAS)
peptidyl-aspartic acid autophosphorylation  (IMP)
polyamine transmembrane transport  (IDA)
positive regulation of exosomal secretion  (IDA,IMP)
positive regulation of gene expression  (IMP)
positive regulation of protein secretion  (IMP)
protein autophosphorylation  (TAS)
protein localization to lysosome  (IMP)
regulation of autophagosome size  (IDA,ISO)
regulation of autophagy of mitochondrion  (TAS)
regulation of chaperone-mediated autophagy  (TAS)
regulation of endopeptidase activity  (IMP)
regulation of glucosylceramidase activity  (IEA)
regulation of intracellular protein transport  (NAS)
regulation of lysosomal protein catabolic process  (IGI,IMP)
regulation of macroautophagy  (IMP,TAS)
regulation of mitochondrion organization  (IDA,IMP,ISO)
regulation of protein localization to nucleus  (IMP)
regulation of ubiquitin-specific protease activity  (IMP)
spermine transmembrane transport  (IMP)
zinc ion homeostasis  (IMP)

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

Human Phenotype
Abnormal caudate nucleus morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormality of finger  (IAGP)
Adult onset  (IAGP)
Aggressive behavior  (IAGP)
Akinesia  (IAGP)
Anarthria  (IAGP)
Anosmia  (IAGP)
Apathy  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Blepharospasm  (IAGP)
Bowel incontinence  (IAGP)
Bradykinesia  (IAGP)
Brisk reflexes  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cognitive impairment  (IAGP)
Confusion  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Difficulty in tongue movements  (IAGP)
Difficulty walking  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Distal sensory impairment  (IAGP)
Dysarthria  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EMG: axonal abnormality  (IAGP)
Exodeviation  (IAGP)
Eyelid apraxia  (IAGP)
Facial myokymia  (IAGP)
Falls  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Generalized muscle weakness  (IAGP)
Hallucinations  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperactive patellar reflex  (IAGP)
Hyperreflexia  (IAGP)
Hyperreflexia in upper limbs  (IAGP)
Hypokinesia  (IAGP)
Hypomimic face  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyposmia  (IAGP)
Impaired tactile sensation  (IAGP)
Impaired vibratory sensation  (IAGP)
Intellectual disability, mild  (IAGP)
Juvenile onset  (IAGP)
Leg muscle stiffness  (IAGP)
Lethargy  (IAGP)
Lingual dystonia  (IAGP)
Mask-like facies  (IAGP)
Muscle weakness  (IAGP)
Myoclonus  (IAGP)
Neurogenic bladder  (IAGP)
Nystagmus  (IAGP)
Oculogyric crisis  (IAGP)
Palmomental reflex  (IAGP)
Paraparesis  (IAGP)
Parkinsonism  (IAGP)
Parkinsonism with favorable response to dopaminergic medication  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Pes cavus  (IAGP)
Postural instability  (IAGP)
Postural tremor  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive extrapyramidal movement disorder  (IAGP)
Progressive gait ataxia  (IAGP)
Progressive pes cavus  (IAGP)
Progressive spastic paraplegia  (IAGP)
Progressive spastic quadriplegia  (IAGP)
Psychotic episodes  (IAGP)
Rapidly progressive  (IAGP)
Resting tremor  (IAGP)
Rigidity  (IAGP)
Seizure  (IAGP)
Sensory axonal neuropathy  (IAGP)
Short attention span  (IAGP)
Slow saccadic eye movements  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Stooped posture  (IAGP)
Strabismus  (IAGP)
Supranuclear gaze palsy  (IAGP)
Torticollis  (IAGP)
Tremor  (IAGP)
Upgaze palsy  (IAGP)
Urinary incontinence  (IAGP)
Urinary urgency  (IAGP)
Vertical supranuclear gaze palsy  (IAGP)
Visual hallucinations  (IAGP)
Young adult onset  (IAGP)
References

Additional References at PubMed
PMID:11584046   PMID:12477932   PMID:15381061   PMID:15489334   PMID:16710414   PMID:16964263   PMID:17485642   PMID:17897319   PMID:18413573   PMID:18785233   PMID:19015489   PMID:19085912  
PMID:19097176   PMID:19224617   PMID:19705361   PMID:19806583   PMID:20036179   PMID:20137506   PMID:20189936   PMID:20227461   PMID:20301334   PMID:20301402   PMID:20301601   PMID:20310007  
PMID:20483373   PMID:20669327   PMID:20816920   PMID:20842691   PMID:20853184   PMID:20976737   PMID:21060012   PMID:21094623   PMID:21362476   PMID:21542062   PMID:21665991   PMID:21696388  
PMID:21714071   PMID:21724849   PMID:21873635   PMID:21900206   PMID:22104014   PMID:22117566   PMID:22186024   PMID:22198378   PMID:22285144   PMID:22288903   PMID:22296644   PMID:22361905  
PMID:22388936   PMID:22442086   PMID:22457822   PMID:22490479   PMID:22645275   PMID:22647602   PMID:22743658   PMID:22768177   PMID:22847264   PMID:22885599   PMID:23121889   PMID:23196729  
PMID:23202360   PMID:23205587   PMID:23284715   PMID:23447832   PMID:23499937   PMID:23522931   PMID:23628791   PMID:24252509   PMID:24252804   PMID:24334770   PMID:24399444   PMID:24603074  
PMID:24949580   PMID:25197640   PMID:25374329   PMID:25392495   PMID:25429064   PMID:25548531   PMID:25855184   PMID:25912790   PMID:26000924   PMID:26134396   PMID:26186194   PMID:26392192  
PMID:26496610   PMID:26818499   PMID:26965689   PMID:27278822   PMID:27282395   PMID:27399248   PMID:28137957   PMID:28302480   PMID:28334751   PMID:28514442   PMID:28894968   PMID:28986522  
PMID:29442384   PMID:29505581   PMID:30232368   PMID:30538141   PMID:30992063   PMID:31132336   PMID:31393918   PMID:31944623   PMID:31996848   PMID:32019516   PMID:32032734   PMID:33229544  
PMID:33335927   PMID:33799982   PMID:34079125  


Genomics

Comparative Map Data
ATP13A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl116,985,958 - 17,011,928 (-)EnsemblGRCh38hg38GRCh38
GRCh38116,985,958 - 17,011,972 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37117,312,453 - 17,338,423 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36117,185,040 - 17,210,854 (-)NCBINCBI36hg18NCBI36
Build 34117,057,758 - 17,083,573NCBI
Celera115,634,791 - 15,660,760 (-)NCBI
Cytogenetic Map1p36.13NCBI
HuRef115,556,532 - 15,582,505 (-)NCBIHuRef
CHM1_1117,420,791 - 17,446,761 (-)NCBICHM1_1
Atp13a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394140,711,812 - 140,734,641 (+)NCBIGRCm39mm39
GRCm39 Ensembl4140,714,184 - 140,734,641 (+)Ensembl
GRCm384140,986,216 - 141,007,330 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4140,986,873 - 141,007,330 (+)EnsemblGRCm38mm10GRCm38
MGSCv374140,542,788 - 140,563,616 (+)NCBIGRCm37mm9NCBIm37
MGSCv364140,259,004 - 140,279,406 (+)NCBImm8
Celera4142,787,644 - 142,807,639 (+)NCBICelera
Cytogenetic Map4D3NCBI
Atp13a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25153,292,722 - 153,312,143 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl5159,512,285 - 159,531,637 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05159,512,208 - 159,531,631 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05163,224,470 - 163,243,886 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45159,847,016 - 159,866,362 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15159,857,176 - 159,876,542 (+)NCBI
Celera5151,657,698 - 151,677,052 (+)NCBICelera
Cytogenetic Map5q36NCBI
Atp13a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555271,806,009 - 1,823,344 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555271,805,854 - 1,823,623 (+)NCBIChiLan1.0ChiLan1.0
ATP13A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1116,975,538 - 17,006,022 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl116,986,385 - 17,006,033 (-)Ensemblpanpan1.1panPan2
PanPan1.1 Ensembl116,975,544 - 17,006,022 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0115,929,613 - 15,955,631 (-)NCBIMhudiblu_PPA_v0panPan3
ATP13A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1281,196,355 - 81,215,736 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl281,196,463 - 81,215,689 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha277,733,475 - 77,752,482 (+)NCBI
ROS_Cfam_1.0281,842,888 - 81,861,861 (+)NCBI
UMICH_Zoey_3.1278,595,908 - 78,614,871 (+)NCBI
UNSW_CanFamBas_1.0279,612,457 - 79,631,767 (+)NCBI
UU_Cfam_GSD_1.0280,680,908 - 80,699,865 (+)NCBI
Atp13a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505838,143,432 - 38,156,097 (-)NCBI
SpeTri2.0NW_0049364743,968,216 - 3,980,821 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP13A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl675,618,416 - 75,638,591 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1675,618,317 - 75,638,591 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2669,931,621 - 69,951,929 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATP13A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120115,578,185 - 115,605,416 (+)NCBI
ChlSab1.1 Ensembl20115,578,261 - 115,605,647 (+)Ensembl
Vero_WHO_p1.0NW_023666033515,071 - 542,556 (-)NCBI
Atp13a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247642,614,541 - 2,631,972 (-)NCBI

Position Markers
D1S1592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37118,067,537 - 18,067,775UniSTSGRCh37
Build 36117,940,124 - 17,940,362RGDNCBI36
Celera116,393,588 - 16,393,826RGD
Cytogenetic Map1p36UniSTS
HuRef116,315,050 - 16,315,288UniSTS
Marshfield Genetic Map138.51UniSTS
Marshfield Genetic Map138.51RGD
TNG Radiation Hybrid Map178295.0UniSTS
deCODE Assembly Map132.19UniSTS
Stanford-G3 RH Map1833.0UniSTS
GeneMap99-GB4 RH Map167.74UniSTS
Whitehead-RH Map169.5UniSTS
NCBI RH Map1104.1UniSTS
D1S2644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37119,026,500 - 19,026,726UniSTSGRCh37
Build 36118,899,087 - 18,899,313RGDNCBI36
Celera117,356,193 - 17,356,419RGD
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1p36UniSTS
HuRef117,272,558 - 17,272,774UniSTS
Marshfield Genetic Map143.72RGD
Marshfield Genetic Map143.72UniSTS
Genethon Genetic Map146.2UniSTS
TNG Radiation Hybrid Map16992.0UniSTS
deCODE Assembly Map135.56UniSTS
GeneMap99-GB4 RH Map172.75UniSTS
D1S2826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37118,433,424 - 18,433,558UniSTSGRCh37
Build 36118,306,011 - 18,306,145RGDNCBI36
Celera116,763,275 - 16,763,409RGD
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1p36UniSTS
HuRef116,680,018 - 16,680,144UniSTS
Marshfield Genetic Map141.92RGD
Marshfield Genetic Map141.92UniSTS
Genethon Genetic Map143.8UniSTS
deCODE Assembly Map133.0UniSTS
D1S199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37119,957,018 - 19,957,144UniSTSGRCh37
GRCh37119,957,049 - 19,957,148UniSTSGRCh37
Build 36119,829,605 - 19,829,731RGDNCBI36
Celera118,283,958 - 18,284,055UniSTS
Celera118,283,927 - 18,284,051RGD
Cytogenetic Map1p36UniSTS
Cytogenetic Map1p36.13-p34.3UniSTS
HuRef118,203,110 - 18,203,234UniSTS
HuRef118,203,141 - 18,203,238UniSTS
Marshfield Genetic Map145.33UniSTS
Marshfield Genetic Map145.33RGD
Genethon Genetic Map147.7UniSTS
TNG Radiation Hybrid Map17351.0UniSTS
deCODE Assembly Map137.48UniSTS
Stanford-G3 RH Map1892.0UniSTS
GeneMap99-GB4 RH Map170.6UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map1104.1UniSTS
GeneMap99-G3 RH Map11162.0UniSTS
GDB:636056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37117,316,404 - 17,316,577UniSTSGRCh37
Build 36117,188,991 - 17,189,164RGDNCBI36
Celera115,638,742 - 15,638,915RGD
Cytogenetic Map1p36UniSTS
HuRef115,560,483 - 15,560,656UniSTS
UniSTS:28191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37117,329,921 - 17,330,143UniSTSGRCh37
Build 36117,202,508 - 17,202,730RGDNCBI36
Celera115,652,258 - 15,652,480RGD
HuRef115,574,006 - 15,574,228UniSTS
D1S3017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37117,312,453 - 17,312,606UniSTSGRCh37
Build 36117,185,040 - 17,185,193RGDNCBI36
Celera115,634,791 - 15,634,944RGD
Cytogenetic Map1p36UniSTS
HuRef115,556,532 - 15,556,685UniSTS
GeneMap99-GB4 RH Map162.04UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5106
Count of miRNA genes:938
Interacting mature miRNAs:1188
Transcripts:ENST00000326735, ENST00000341676, ENST00000452699, ENST00000463860, ENST00000466561, ENST00000502418, ENST00000502860, ENST00000503552, ENST00000506174, ENST00000508222, ENST00000509392, ENST00000509619, ENST00000510069, ENST00000511957
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2375 1731 1317 231 1472 74 3840 1359 3670 320 1423 1596 170 1 1181 2293 4 2
Low 64 1260 409 393 476 391 517 838 64 99 37 17 5 23 495 2
Below cutoff 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001141973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001141974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ009947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY461712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY987009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY024349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000326735   ⟹   ENSP00000327214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,985,958 - 17,011,928 (-)Ensembl
RefSeq Acc Id: ENST00000341676   ⟹   ENSP00000341115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,985,958 - 17,011,915 (-)Ensembl
RefSeq Acc Id: ENST00000452699   ⟹   ENSP00000413307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,985,958 - 17,011,928 (-)Ensembl
RefSeq Acc Id: ENST00000463860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,995,487 - 17,000,847 (-)Ensembl
RefSeq Acc Id: ENST00000466561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,985,959 - 16,991,858 (-)Ensembl
RefSeq Acc Id: ENST00000502418   ⟹   ENSP00000423065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,985,981 - 16,990,003 (-)Ensembl
RefSeq Acc Id: ENST00000502860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,995,859 - 17,000,291 (-)Ensembl
RefSeq Acc Id: ENST00000503552   ⟹   ENSP00000421126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,990,175 - 16,996,283 (-)Ensembl
RefSeq Acc Id: ENST00000506174   ⟹   ENSP00000424393
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,996,087 - 17,000,312 (-)Ensembl
RefSeq Acc Id: ENST00000508222   ⟹   ENSP00000422227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl117,000,283 - 17,005,395 (-)Ensembl
RefSeq Acc Id: ENST00000509392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,996,034 - 16,996,694 (-)Ensembl
RefSeq Acc Id: ENST00000509619   ⟹   ENSP00000422668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl117,002,320 - 17,005,765 (-)Ensembl
RefSeq Acc Id: ENST00000510069   ⟹   ENSP00000424313
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl117,000,011 - 17,005,714 (-)Ensembl
RefSeq Acc Id: ENST00000511957   ⟹   ENSP00000427241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl117,000,269 - 17,005,072 (-)Ensembl
RefSeq Acc Id: ENST00000617114   ⟹   ENSP00000478781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,995,859 - 17,011,928 (-)Ensembl
RefSeq Acc Id: NM_001141973   ⟹   NP_001135445
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
GRCh37117,312,453 - 17,338,467 (-)NCBI
HuRef115,556,532 - 15,582,505 (-)ENTREZGENE
CHM1_1117,420,791 - 17,446,805 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001141974   ⟹   NP_001135446
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
GRCh37117,312,453 - 17,338,467 (-)NCBI
HuRef115,556,532 - 15,582,505 (-)ENTREZGENE
CHM1_1117,420,791 - 17,446,805 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022089   ⟹   NP_071372
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
GRCh37117,312,453 - 17,338,467 (-)NCBI
Build 36117,185,040 - 17,210,854 (-)NCBI Archive
HuRef115,556,532 - 15,582,505 (-)ENTREZGENE
CHM1_1117,420,791 - 17,446,805 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245810   ⟹   XP_005245867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
GRCh37117,312,453 - 17,338,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245811   ⟹   XP_005245868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
GRCh37117,312,453 - 17,338,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245812   ⟹   XP_005245869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
GRCh37117,312,453 - 17,338,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245815   ⟹   XP_005245872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
GRCh37117,312,453 - 17,338,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710512   ⟹   XP_006710575
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710513   ⟹   XP_006710576
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541128   ⟹   XP_011539430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541129   ⟹   XP_011539431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000844   ⟹   XP_016856333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000845   ⟹   XP_016856334
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000846   ⟹   XP_016856335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000847   ⟹   XP_016856336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000848   ⟹   XP_016856337
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000849   ⟹   XP_016856338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000850   ⟹   XP_016856339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,972 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001135445 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135446 (Get FASTA)   NCBI Sequence Viewer  
  NP_071372 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245867 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245868 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245869 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245872 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710575 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710576 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539430 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539431 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856333 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856334 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856335 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856336 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856337 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856338 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856339 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH30267 (Get FASTA)   NCBI Sequence Viewer  
  AAH34575 (Get FASTA)   NCBI Sequence Viewer  
  AAR23423 (Get FASTA)   NCBI Sequence Viewer  
  AAX88804 (Get FASTA)   NCBI Sequence Viewer  
  BAC11539 (Get FASTA)   NCBI Sequence Viewer  
  BAF82899 (Get FASTA)   NCBI Sequence Viewer  
  CAA08912 (Get FASTA)   NCBI Sequence Viewer  
  CAB89728 (Get FASTA)   NCBI Sequence Viewer  
  CAD38813 (Get FASTA)   NCBI Sequence Viewer  
  EAW94824 (Get FASTA)   NCBI Sequence Viewer  
  EAW94825 (Get FASTA)   NCBI Sequence Viewer  
  EAW94826 (Get FASTA)   NCBI Sequence Viewer  
  EAW94827 (Get FASTA)   NCBI Sequence Viewer  
  Q9NQ11 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001135446   ⟸   NM_001141974
- Peptide Label: isoform 3
- UniProtKB: Q9NQ11 (UniProtKB/Swiss-Prot),   Q8N4D4 (UniProtKB/TrEMBL),   Q8NBS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001135445   ⟸   NM_001141973
- Peptide Label: isoform 2
- UniProtKB: Q9NQ11 (UniProtKB/Swiss-Prot),   Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_071372   ⟸   NM_022089
- Peptide Label: isoform 1
- UniProtKB: Q9NQ11 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005245868   ⟸   XM_005245811
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005245867   ⟸   XM_005245810
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005245869   ⟸   XM_005245812
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005245872   ⟸   XM_005245815
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_006710575   ⟸   XM_006710512
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006710576   ⟸   XM_006710513
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011539430   ⟸   XM_011541128
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011539431   ⟸   XM_011541129
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_016856334   ⟸   XM_017000845
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016856335   ⟸   XM_017000846
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016856338   ⟸   XM_017000849
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016856336   ⟸   XM_017000847
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016856333   ⟸   XM_017000844
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016856339   ⟸   XM_017000850
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_016856337   ⟸   XM_017000848
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: ENSP00000423065   ⟸   ENST00000502418
RefSeq Acc Id: ENSP00000421126   ⟸   ENST00000503552
RefSeq Acc Id: ENSP00000413307   ⟸   ENST00000452699
RefSeq Acc Id: ENSP00000424393   ⟸   ENST00000506174
RefSeq Acc Id: ENSP00000422227   ⟸   ENST00000508222
RefSeq Acc Id: ENSP00000422668   ⟸   ENST00000509619
RefSeq Acc Id: ENSP00000327214   ⟸   ENST00000326735
RefSeq Acc Id: ENSP00000424313   ⟸   ENST00000510069
RefSeq Acc Id: ENSP00000478781   ⟸   ENST00000617114
RefSeq Acc Id: ENSP00000427241   ⟸   ENST00000511957
RefSeq Acc Id: ENSP00000341115   ⟸   ENST00000341676

Promoters
RGD ID:6854270
Promoter ID:EPDNEW_H300
Type:initiation region
Name:ATP13A2_1
Description:ATPase 13A2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38117,011,928 - 17,011,988EPDNEW
RGD ID:6784659
Promoter ID:HG_KWN:1009
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000375508,   NM_001141973,   NM_001141974,   NM_022089
Position:
Human AssemblyChrPosition (strand)Source
Build 36117,210,761 - 17,211,261 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022089.4(ATP13A2):c.1831C>A (p.Gln611Lys) single nucleotide variant Kufor-Rakeb syndrome [RCV000531795] Chr1:16992500 [GRCh38]
Chr1:17318995 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3084-10G>T single nucleotide variant Kufor-Rakeb syndrome [RCV000528900] Chr1:16986966 [GRCh38]
Chr1:17313461 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3175C>T (p.Leu1059Phe) single nucleotide variant Kufor-Rakeb syndrome [RCV000549289] Chr1:16986865 [GRCh38]
Chr1:17313360 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1101_1102dup (p.Thr368fs) microsatellite Kufor-Rakeb syndrome [RCV000023818] Chr1:16997112..16997113 [GRCh38]
Chr1:17323607..17323608 [GRCh37]
Chr1:1p36.13
pathogenic
ATP13A2, 1-BP DEL, 3057C deletion Kufor-Rakeb syndrome [RCV000001277] Chr1:1p36 pathogenic
NM_022089.4(ATP13A2):c.1306+5G>A single nucleotide variant Kufor-Rakeb syndrome [RCV000001278] Chr1:16996381 [GRCh38]
Chr1:17322876 [GRCh37]
Chr1:1p36.13
pathogenic
ATP13A2, 22-BP DUP duplication Kufor-Rakeb syndrome [RCV000001279] Chr1:1p36 pathogenic
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000716472]|Kufor-Rakeb syndrome [RCV001088876]|Kufor-Rakeb syndrome [RCV001100829]|not provided [RCV000710706] Chr1:16992042 [GRCh38]
Chr1:17318537 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.3084-10G>A single nucleotide variant not provided [RCV000727909] Chr1:16986966 [GRCh38]
Chr1:17313461 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) single nucleotide variant Kufor-Rakeb syndrome [RCV000762864]|Spastic paraplegia 78, autosomal recessive [RCV001329887] Chr1:16992345 [GRCh38]
Chr1:17318840 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV000546370] Chr1:16991749 [GRCh38]
Chr1:17318244 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2412G>A (p.Lys804=) single nucleotide variant Kufor-Rakeb syndrome [RCV000549719] Chr1:16990127 [GRCh38]
Chr1:17316622 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp) single nucleotide variant Kufor-Rakeb syndrome [RCV000132730] Chr1:17004399 [GRCh38]
Chr1:17330894 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.1545G>A (p.Thr515=) single nucleotide variant Kufor-Rakeb syndrome [RCV000543265] Chr1:16993833 [GRCh38]
Chr1:17320328 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2552_2553del (p.Phe851fs) deletion Kufor-Rakeb syndrome [RCV000023819] Chr1:16989747..16989748 [GRCh38]
Chr1:17316242..17316243 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV000001280] Chr1:16996008 [GRCh38]
Chr1:17322503 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.3(ATP13A2):c.11-1998G>A single nucleotide variant Lung cancer [RCV000089955] Chr1:17007776 [GRCh38]
Chr1:17334271 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2629G>A (p.Gly877Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV000056336] Chr1:16988455 [GRCh38]
Chr1:17314950 [GRCh37]
Chr1:1p36.13
pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1 copy number loss See cases [RCV000051146] Chr1:15385267..20980349 [GRCh38]
Chr1:15711763..21306842 [GRCh37]
Chr1:15584350..21179429 [NCBI36]
Chr1:1p36.21-36.12
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3 copy number gain See cases [RCV000051797] Chr1:13110797..20670207 [GRCh38]
Chr1:13178269..20996700 [GRCh37]
Chr1:13100856..20869287 [NCBI36]
Chr1:1p36.21-36.12
pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3 copy number gain See cases [RCV000051799] Chr1:13619979..18466172 [GRCh38]
Chr1:13946474..18792666 [GRCh37]
Chr1:13819061..18665253 [NCBI36]
Chr1:1p36.21-36.13
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12
pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15173497-18242678)x1 copy number loss See cases [RCV000053769] Chr1:15173497..18242678 [GRCh38]
Chr1:15499993..18569172 [GRCh37]
Chr1:15372580..18441759 [NCBI36]
Chr1:1p36.21-36.13
pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15173497-17019576)x1 copy number loss See cases [RCV000053771] Chr1:15173497..17019576 [GRCh38]
Chr1:15499993..17346071 [GRCh37]
Chr1:15372580..17218658 [NCBI36]
Chr1:1p36.21-36.13
pathogenic
NM_022089.4(ATP13A2):c.2561T>G (p.Met854Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV000056335] Chr1:16989739 [GRCh38]
Chr1:17316234 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.1108C>T (p.Arg370Trp) single nucleotide variant Kufor-Rakeb syndrome [RCV001099189] Chr1:16997107 [GRCh38]
Chr1:17323602 [GRCh37]
Chr1:17196189 [NCBI36]
Chr1:1p36.13
uncertain significance|not provided
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=) single nucleotide variant History of neurodevelopmental disorder [RCV000715824]|Kufor-Rakeb syndrome [RCV000311152]|Kufor-Rakeb syndrome [RCV000556016]|not provided [RCV000675904]|not specified [RCV000116432] Chr1:17000045 [GRCh38]
Chr1:17326540 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) single nucleotide variant History of neurodevelopmental disorder [RCV000716607]|Kufor-Rakeb syndrome [RCV000273886]|Kufor-Rakeb syndrome [RCV001080403]|not provided [RCV000710704]|not specified [RCV000116433] Chr1:16993761 [GRCh38]
Chr1:17320256 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) single nucleotide variant History of neurodevelopmental disorder [RCV000715166]|Kufor-Rakeb syndrome [RCV000299686]|Kufor-Rakeb syndrome [RCV001511877]|not provided [RCV000675900]|not specified [RCV000116434] Chr1:16992516 [GRCh38]
Chr1:17319011 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) single nucleotide variant History of neurodevelopmental disorder [RCV000715162]|Kufor-Rakeb syndrome [RCV000331660]|Kufor-Rakeb syndrome [RCV001511876]|not provided [RCV000675899]|not specified [RCV000116435] Chr1:16988447 [GRCh38]
Chr1:17314942 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=) single nucleotide variant History of neurodevelopmental disorder [RCV000717522]|Kufor-Rakeb syndrome [RCV000535895]|Kufor-Rakeb syndrome [RCV001097257]|not specified [RCV000116436] Chr1:16988360 [GRCh38]
Chr1:17314855 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=) single nucleotide variant History of neurodevelopmental disorder [RCV000715180]|Kufor-Rakeb syndrome [RCV000281364]|Kufor-Rakeb syndrome [RCV001522531]|not provided [RCV000675896]|not specified [RCV000116437] Chr1:16988207 [GRCh38]
Chr1:17314702 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) single nucleotide variant History of neurodevelopmental disorder [RCV000717440]|Kufor-Rakeb syndrome [RCV000550501]|Kufor-Rakeb syndrome [RCV001097255]|Spastic paraplegia 78, autosomal recessive [RCV000785011]|not provided [RCV000116438] Chr1:16988161 [GRCh38]
Chr1:17314656 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) single nucleotide variant History of neurodevelopmental disorder [RCV000715148]|Kufor-Rakeb syndrome [RCV000360410]|Kufor-Rakeb syndrome [RCV001511875]|not provided [RCV000675895]|not specified [RCV000116439] Chr1:16987159 [GRCh38]
Chr1:17313654 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.3084-3C>T single nucleotide variant History of neurodevelopmental disorder [RCV000715176]|Kufor-Rakeb syndrome [RCV000324328]|Kufor-Rakeb syndrome [RCV001522530]|not provided [RCV000675893]|not specified [RCV000116440] Chr1:16986959 [GRCh38]
Chr1:17313454 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) single nucleotide variant History of neurodevelopmental disorder [RCV000715171]|Kufor-Rakeb syndrome [RCV000359787]|Kufor-Rakeb syndrome [RCV000538915]|not provided [RCV000675892]|not specified [RCV000116441] Chr1:16986896 [GRCh38]
Chr1:17313391 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) single nucleotide variant History of neurodevelopmental disorder [RCV000715154]|Kufor-Rakeb syndrome [RCV000309613]|Kufor-Rakeb syndrome [RCV001511874]|not provided [RCV000675891]|not specified [RCV000116442] Chr1:16986848 [GRCh38]
Chr1:17313343 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000716163]|Kufor-Rakeb syndrome [RCV001087148]|not provided [RCV000675887]|not specified [RCV000116443] Chr1:16986334 [GRCh38]
Chr1:17312829 [GRCh37]
Chr1:1p36.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) single nucleotide variant History of neurodevelopmental disorder [RCV000715153]|Kufor-Rakeb syndrome [RCV000336632]|Kufor-Rakeb syndrome [RCV001511873]|not provided [RCV000675885]|not specified [RCV000116444] Chr1:16986248 [GRCh38]
Chr1:17312743 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000715715]|Kufor-Rakeb syndrome [RCV000555414]|Kufor-Rakeb syndrome [RCV001099191]|not provided [RCV000675905]|not specified [RCV000116445] Chr1:17000272 [GRCh38]
Chr1:17326767 [GRCh37]
Chr1:1p36.13
benign|likely benign|uncertain significance
NM_022089.4(ATP13A2):c.237C>G (p.Pro79=) single nucleotide variant not provided [RCV000122568] Chr1:17005425 [GRCh38]
Chr1:17331920 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3258G>C (p.Ala1086=) single nucleotide variant Kufor-Rakeb syndrome [RCV000363033] Chr1:16986610 [GRCh38]
Chr1:17313105 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1195+10G>A single nucleotide variant Kufor-Rakeb syndrome [RCV000285453]|Kufor-Rakeb syndrome [RCV001086105]|not provided [RCV000675902]|not specified [RCV000174396] Chr1:16997010 [GRCh38]
Chr1:17323505 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV001312911]|Kufor-Rakeb syndrome [RCV001333122] Chr1:16987089 [GRCh38]
Chr1:17313584 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2529+1G>A single nucleotide variant Kufor-Rakeb syndrome [RCV001331222] Chr1:16989886 [GRCh38]
Chr1:17316381 [GRCh37]
Chr1:1p36.13
likely pathogenic
NM_022089.4(ATP13A2):c.993C>T (p.Ala331=) single nucleotide variant Kufor-Rakeb syndrome [RCV001439529]|not provided [RCV000174159] Chr1:17000057 [GRCh38]
Chr1:17326552 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1 copy number loss See cases [RCV000138070] Chr1:15681812..19662339 [GRCh38]
Chr1:16008307..19988832 [GRCh37]
Chr1:15880894..19861419 [NCBI36]
Chr1:1p36.21-36.13
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV000191065] Chr1:17000107 [GRCh38]
Chr1:17326602 [GRCh37]
Chr1:1p36.13
likely pathogenic
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) single nucleotide variant History of neurodevelopmental disorder [RCV000717080]|Kufor-Rakeb syndrome [RCV000316626]|Kufor-Rakeb syndrome [RCV001085655]|not provided [RCV000725226]|not specified [RCV000192784] Chr1:16988138 [GRCh38]
Chr1:17314633 [GRCh37]
Chr1:1p36.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.106-8G>A single nucleotide variant Kufor-Rakeb syndrome [RCV000307211]|Kufor-Rakeb syndrome [RCV001086028]|not provided [RCV000658501]|not specified [RCV000193708] Chr1:17005564 [GRCh38]
Chr1:17332059 [GRCh37]
Chr1:1p36.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV001327469]|not specified [RCV000194744] Chr1:16996255 [GRCh38]
Chr1:17322750 [GRCh37]
Chr1:1p36.13
conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=) single nucleotide variant Kufor-Rakeb syndrome [RCV000386189]|Kufor-Rakeb syndrome [RCV000557434] Chr1:16988465 [GRCh38]
Chr1:17314960 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1442C>T (p.Thr481Met) single nucleotide variant Kufor-Rakeb syndrome [RCV000388209]|Kufor-Rakeb syndrome [RCV001323185] Chr1:16996076 [GRCh38]
Chr1:17322571 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.*251A>G single nucleotide variant Kufor-Rakeb syndrome [RCV000265464] Chr1:16985970 [GRCh38]
Chr1:17312465 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu) single nucleotide variant History of neurodevelopmental disorder [RCV000720141]|Kufor-Rakeb syndrome [RCV000395373]|Kufor-Rakeb syndrome [RCV001048930]|Spastic paraplegia 78, autosomal recessive [RCV001329888] Chr1:16990276 [GRCh38]
Chr1:17316771 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) single nucleotide variant Kufor-Rakeb syndrome [RCV000396839]|Kufor-Rakeb syndrome [RCV000527414] Chr1:16986847 [GRCh38]
Chr1:17313342 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=) single nucleotide variant Kufor-Rakeb syndrome [RCV000403466]|Kufor-Rakeb syndrome [RCV000875471] Chr1:16986335 [GRCh38]
Chr1:17312830 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2381T>C (p.Met794Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV000405273] Chr1:16990158 [GRCh38]
Chr1:17316653 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1163G>A (p.Gly388Glu) single nucleotide variant Kufor-Rakeb syndrome [RCV000405175] Chr1:16997052 [GRCh38]
Chr1:17323547 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.348-9_351del deletion Kufor-Rakeb syndrome [RCV000191064]|Kufor-Rakeb syndrome [RCV001378978]|not provided [RCV000598141] Chr1:17004818..17004830 [GRCh38]
Chr1:17331313..17331325 [GRCh37]
Chr1:1p36.13
pathogenic|likely pathogenic|uncertain significance
NM_022089.4(ATP13A2):c.3406-14C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000292269] Chr1:16986372 [GRCh38]
Chr1:17312867 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2609+10C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000294679] Chr1:16989681 [GRCh38]
Chr1:17316176 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2252-11A>G single nucleotide variant Kufor-Rakeb syndrome [RCV000298439] Chr1:16990298 [GRCh38]
Chr1:17316793 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=) single nucleotide variant History of neurodevelopmental disorder [RCV000716977]|Kufor-Rakeb syndrome [RCV000298225]|Kufor-Rakeb syndrome [RCV000641076] Chr1:16997087 [GRCh38]
Chr1:17323582 [GRCh37]
Chr1:1p36.13
benign|likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2331C>T (p.His777=) single nucleotide variant Kufor-Rakeb syndrome [RCV000301718]|Kufor-Rakeb syndrome [RCV001081870]|not provided [RCV000593213] Chr1:16990208 [GRCh38]
Chr1:17316703 [GRCh37]
Chr1:1p36.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.2952G>A (p.Ala984=) single nucleotide variant Kufor-Rakeb syndrome [RCV000261475] Chr1:16987177 [GRCh38]
Chr1:17313672 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.396G>A (p.Ala132=) single nucleotide variant Kufor-Rakeb syndrome [RCV000275889]|Kufor-Rakeb syndrome [RCV000969807] Chr1:17004773 [GRCh38]
Chr1:17331268 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) single nucleotide variant History of neurodevelopmental disorder [RCV000720549]|Kufor-Rakeb syndrome [RCV000263146]|Kufor-Rakeb syndrome [RCV001080875]|not provided [RCV000658498] Chr1:16992322 [GRCh38]
Chr1:17318817 [GRCh37]
Chr1:1p36.13
benign|likely benign|uncertain significance
NM_022089.4(ATP13A2):c.3111C>T (p.Ala1037=) single nucleotide variant Kufor-Rakeb syndrome [RCV000265102] Chr1:16986929 [GRCh38]
Chr1:17313424 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV000291217] Chr1:16990132 [GRCh38]
Chr1:17316627 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV000291316]|Kufor-Rakeb syndrome [RCV001243069] Chr1:16996448 [GRCh38]
Chr1:17322943 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala) single nucleotide variant Kufor-Rakeb syndrome [RCV000269192] Chr1:16996098 [GRCh38]
Chr1:17322593 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys) single nucleotide variant Kufor-Rakeb syndrome [RCV000281563] Chr1:16986225 [GRCh38]
Chr1:17312720 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=) single nucleotide variant History of neurodevelopmental disorder [RCV000718056]|Kufor-Rakeb syndrome [RCV000377514]|Kufor-Rakeb syndrome [RCV000554838]|not specified [RCV000436506] Chr1:16996489 [GRCh38]
Chr1:17322984 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2529+9G>A single nucleotide variant Kufor-Rakeb syndrome [RCV000380947]|Kufor-Rakeb syndrome [RCV000876195] Chr1:16989878 [GRCh38]
Chr1:17316373 [GRCh37]
Chr1:1p36.13
benign|likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) single nucleotide variant History of neurodevelopmental disorder [RCV000718027]|Kufor-Rakeb syndrome [RCV000383438]|Kufor-Rakeb syndrome [RCV001080128]|not provided [RCV000658499] Chr1:16996298 [GRCh38]
Chr1:17322793 [GRCh37]
Chr1:1p36.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) single nucleotide variant Kufor-Rakeb syndrome [RCV000368117]|Kufor-Rakeb syndrome [RCV000874914] Chr1:17000099 [GRCh38]
Chr1:17326594 [GRCh37]
Chr1:1p36.13
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.106-14C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000364254]|Kufor-Rakeb syndrome [RCV001518557] Chr1:17005570 [GRCh38]
Chr1:17332065 [GRCh37]
Chr1:1p36.13
benign|uncertain significance
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000716661]|Kufor-Rakeb syndrome [RCV000874010]|Kufor-Rakeb syndrome [RCV001101188] Chr1:17005517 [GRCh38]
Chr1:17332012 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr) single nucleotide variant History of neurodevelopmental disorder [RCV000716759] Chr1:16996490 [GRCh38]
Chr1:17322985 [GRCh37]
Chr1:1p36.13
uncertain significance
GRCh37/hg19 1p36.13(chr1:16782351-17359598)x1 copy number loss Ductal breast carcinoma [RCV000207218] Chr1:16782351..17359598 [GRCh37]
Chr1:1p36.13
uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) single nucleotide variant Kufor-Rakeb syndrome [RCV000326531]|Kufor-Rakeb syndrome [RCV000811676] Chr1:16996293 [GRCh38]
Chr1:17322788 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1065G>A (p.Thr355=) single nucleotide variant Kufor-Rakeb syndrome [RCV000336881] Chr1:16997150 [GRCh38]
Chr1:17323645 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=) single nucleotide variant History of neurodevelopmental disorder [RCV000715536]|Kufor-Rakeb syndrome [RCV000308299]|Kufor-Rakeb syndrome [RCV000542280] Chr1:16986571 [GRCh38]
Chr1:17313066 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=) single nucleotide variant Kufor-Rakeb syndrome [RCV000333655]|Kufor-Rakeb syndrome [RCV000874247] Chr1:16996069 [GRCh38]
Chr1:17322564 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu) single nucleotide variant Kufor-Rakeb syndrome [RCV000339348] Chr1:16996484 [GRCh38]
Chr1:17322979 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV000342536] Chr1:16990254 [GRCh38]
Chr1:17316749 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1195+9C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000342616]|Kufor-Rakeb syndrome [RCV001081874]|not provided [RCV000675903] Chr1:16997011 [GRCh38]
Chr1:17323506 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=) single nucleotide variant Kufor-Rakeb syndrome [RCV000352678] Chr1:16986490 [GRCh38]
Chr1:17312985 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=) single nucleotide variant Kufor-Rakeb syndrome [RCV000353211]|Kufor-Rakeb syndrome [RCV000877932] Chr1:16992301 [GRCh38]
Chr1:17318796 [GRCh37]
Chr1:1p36.13
benign|uncertain significance
NM_022089.4(ATP13A2):c.*155C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000285239] Chr1:16986066 [GRCh38]
Chr1:17312561 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) single nucleotide variant History of neurodevelopmental disorder [RCV000715441]|Kufor-Rakeb syndrome [RCV000602353]|Kufor-Rakeb syndrome [RCV001084457]|not provided [RCV000557867]|not specified [RCV000244521] Chr1:16993764 [GRCh38]
Chr1:17320259 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) single nucleotide variant History of neurodevelopmental disorder [RCV000716001]|Kufor-Rakeb syndrome [RCV000606118]|Kufor-Rakeb syndrome [RCV001086809]|not provided [RCV000675908]|not specified [RCV000247547] Chr1:17005530 [GRCh38]
Chr1:17332025 [GRCh37]
Chr1:1p36.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_022089.4(ATP13A2):c.3235+17G>A single nucleotide variant Kufor-Rakeb syndrome [RCV001522770]|not provided [RCV000675889]|not specified [RCV000245328] Chr1:16986788 [GRCh38]
Chr1:17313283 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_022089.4(ATP13A2):c.*130C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000317055]|Kufor-Rakeb syndrome [RCV000768152]|not provided [RCV000513062] Chr1:16986091 [GRCh38]
Chr1:17312586 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.*158T>C single nucleotide variant Kufor-Rakeb syndrome [RCV000379733]|not provided [RCV000993928] Chr1:16986063 [GRCh38]
Chr1:17312558 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.*243A>C single nucleotide variant Kufor-Rakeb syndrome [RCV000320573] Chr1:16985978 [GRCh38]
Chr1:17312473 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.-170C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000329372] Chr1:17011908 [GRCh38]
Chr1:17338403 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.*124C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000371639] Chr1:16986097 [GRCh38]
Chr1:17312592 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.-151C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000272014] Chr1:17011889 [GRCh38]
Chr1:17338384 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.846C>T (p.Ser282=) single nucleotide variant not provided [RCV000307973] Chr1:17000307 [GRCh38]
Chr1:17326802 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.841-4A>G single nucleotide variant Kufor-Rakeb syndrome [RCV001459926]|not provided [RCV000298189] Chr1:17000316 [GRCh38]
Chr1:17326811 [GRCh37]
Chr1:1p36.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.2981G>A (p.Gly994Glu) single nucleotide variant not provided [RCV000407355] Chr1:16987148 [GRCh38]
Chr1:17313643 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2797G>A (p.Val933Ile) single nucleotide variant not provided [RCV000487801] Chr1:16988200 [GRCh38]
Chr1:17314695 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2563G>A (p.Ala855Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV000344909] Chr1:16989737 [GRCh38]
Chr1:17316232 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2406C>T (p.Gly802=) single nucleotide variant Kufor-Rakeb syndrome [RCV000345890] Chr1:16990133 [GRCh38]
Chr1:17316628 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe) single nucleotide variant Kufor-Rakeb syndrome [RCV000403240]|Kufor-Rakeb syndrome [RCV001369593] Chr1:16986567 [GRCh38]
Chr1:17313062 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1040-6C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000404277] Chr1:16997181 [GRCh38]
Chr1:17323676 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1744G>A (p.Gly582Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV000368355]|Kufor-Rakeb syndrome [RCV001307246] Chr1:16993634 [GRCh38]
Chr1:17320129 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.29G>A (p.Gly10Asp) single nucleotide variant not provided [RCV000585147] Chr1:17005760 [GRCh38]
Chr1:17332255 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2808C>T (p.Tyr936=) single nucleotide variant Kufor-Rakeb syndrome [RCV000375863] Chr1:16988189 [GRCh38]
Chr1:17314684 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter) single nucleotide variant not provided [RCV000592144] Chr1:16989961 [GRCh38]
Chr1:17316456 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.2440G>A (p.Val814Met) single nucleotide variant Kufor-Rakeb syndrome [RCV001099010] Chr1:16989976 [GRCh38]
Chr1:17316471 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2439C>T (p.Thr813=) single nucleotide variant Kufor-Rakeb syndrome [RCV001099011] Chr1:16989977 [GRCh38]
Chr1:17316472 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV000641069] Chr1:17000495 [GRCh38]
Chr1:17326990 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met) single nucleotide variant History of neurodevelopmental disorder [RCV000716689]|Kufor-Rakeb syndrome [RCV000641064] Chr1:16987187 [GRCh38]
Chr1:17313682 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1237C>T (p.His413Tyr) single nucleotide variant not provided [RCV000593522] Chr1:16996455 [GRCh38]
Chr1:17322950 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=) single nucleotide variant History of neurodevelopmental disorder [RCV000716656]|Kufor-Rakeb syndrome [RCV001085302]|not provided [RCV000710714] Chr1:17004716 [GRCh38]
Chr1:17331211 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.3347T>G (p.Phe1116Cys) single nucleotide variant not provided [RCV000584918] Chr1:16986521 [GRCh38]
Chr1:17313016 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.*120A>T single nucleotide variant Kufor-Rakeb syndrome [RCV000608049]|not provided [RCV000585408] Chr1:16986101 [GRCh38]
Chr1:17312596 [GRCh37]
Chr1:1p36.13
benign|likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2158G>T (p.Gly720Trp) single nucleotide variant Kufor-Rakeb syndrome [RCV000641067] Chr1:16991827 [GRCh38]
Chr1:17318322 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3149TCT[1] (p.Phe1051del) microsatellite Spastic paraplegia 78, autosomal recessive [RCV000415585] Chr1:16986886..16986888 [GRCh38]
Chr1:17313381..17313383 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.1550C>T (p.Thr517Ile) single nucleotide variant Spastic paraplegia 78, autosomal recessive [RCV000415515] Chr1:16993828 [GRCh38]
Chr1:17320323 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter) single nucleotide variant Spastic paraplegia 78, autosomal recessive [RCV000415542] Chr1:16986346 [GRCh38]
Chr1:17312841 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.364C>T (p.Gln122Ter) single nucleotide variant Spastic paraplegia 78, autosomal recessive [RCV000415546] Chr1:17004805 [GRCh38]
Chr1:17331300 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.1345C>T (p.Arg449Ter) single nucleotide variant Spastic paraplegia 78, autosomal recessive [RCV000415578] Chr1:16996262 [GRCh38]
Chr1:17322757 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.1080G>C (p.Gly360=) single nucleotide variant Kufor-Rakeb syndrome [RCV001449181]|not provided [RCV000732655] Chr1:16997135 [GRCh38]
Chr1:17323630 [GRCh37]
Chr1:1p36.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.1039+6C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000767898] Chr1:17000005 [GRCh38]
Chr1:17326500 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=) single nucleotide variant Kufor-Rakeb syndrome [RCV001087477]|Kufor-Rakeb syndrome [RCV001100726]|not provided [RCV000728087] Chr1:16986610 [GRCh38]
Chr1:17313105 [GRCh37]
Chr1:1p36.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.508G>A (p.Gly170Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV000530770] Chr1:17004381 [GRCh38]
Chr1:17330876 [GRCh37]
Chr1:1p36.13
uncertain significance
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
NM_022089.4(ATP13A2):c.3277G>C (p.Val1093Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV000794087]|not provided [RCV000423915] Chr1:16986591 [GRCh38]
Chr1:17313086 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.229C>T (p.Leu77Phe) single nucleotide variant not provided [RCV000417817] Chr1:17005433 [GRCh38]
Chr1:17331928 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.197G>A (p.Arg66His) single nucleotide variant not provided [RCV000431349] Chr1:17005465 [GRCh38]
Chr1:17331960 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1157A>G (p.Tyr386Cys) single nucleotide variant not provided [RCV000436495] Chr1:16997058 [GRCh38]
Chr1:17323553 [GRCh37]
Chr1:1p36.13
uncertain significance
GRCh37/hg19 1p36.21-36.13(chr1:13178371-19961858)x1 copy number loss See cases [RCV000447987] Chr1:13178371..19961858 [GRCh37]
Chr1:1p36.21-36.13
pathogenic
NM_022089.4(ATP13A2):c.1353+15T>G single nucleotide variant not specified [RCV000503410] Chr1:16996239 [GRCh38]
Chr1:17322734 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1353+20T>G single nucleotide variant not specified [RCV000501664] Chr1:16996234 [GRCh38]
Chr1:17322729 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.*24C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000509196]|not provided [RCV000513473] Chr1:16986197 [GRCh38]
Chr1:17312692 [GRCh37]
Chr1:1p36.13
uncertain significance|not provided
NM_022089.4(ATP13A2):c.3236-34G>A single nucleotide variant not specified [RCV000499746] Chr1:16986666 [GRCh38]
Chr1:17313161 [GRCh37]
Chr1:1p36.13
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_022089.4(ATP13A2):c.212G>A (p.Trp71Ter) single nucleotide variant Inborn genetic diseases [RCV001265808]|not provided [RCV000498095] Chr1:17005450 [GRCh38]
Chr1:17331945 [GRCh37]
Chr1:1p36.13
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) single nucleotide variant Kufor-Rakeb syndrome [RCV000768154] Chr1:16988338 [GRCh38]
Chr1:17314833 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000720358]|Kufor-Rakeb syndrome [RCV001088641]|not provided [RCV000710709] Chr1:16990191 [GRCh38]
Chr1:17316686 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_022089.4(ATP13A2):c.1195+7G>A single nucleotide variant Kufor-Rakeb syndrome [RCV000539944] Chr1:16997013 [GRCh38]
Chr1:17323508 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1171G>A (p.Val391Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000720746]|Kufor-Rakeb syndrome [RCV000763771]|not provided [RCV000595185] Chr1:16997044 [GRCh38]
Chr1:17323539 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.777C>T (p.Tyr259=) single nucleotide variant History of neurodevelopmental disorder [RCV000718399]|Kufor-Rakeb syndrome [RCV000540834] Chr1:17000463 [GRCh38]
Chr1:17326958 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) deletion Kufor-Rakeb syndrome [RCV000541447]|Kufor-Rakeb syndrome [RCV001201356]|not provided [RCV000598921] Chr1:16987072 [GRCh38]
Chr1:17313567 [GRCh37]
Chr1:1p36.13
pathogenic|likely pathogenic
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter) single nucleotide variant Inborn genetic diseases [RCV000624309] Chr1:16996059 [GRCh38]
Chr1:17322554 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV001087882]|not provided [RCV000675906] Chr1:17000309 [GRCh38]
Chr1:17326804 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2610-9T>C single nucleotide variant Kufor-Rakeb syndrome [RCV000641070] Chr1:16988483 [GRCh38]
Chr1:17314978 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2899G>C (p.Asp967His) single nucleotide variant Kufor-Rakeb syndrome [RCV000641068] Chr1:16987230 [GRCh38]
Chr1:17313725 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV000641063] Chr1:16990135 [GRCh38]
Chr1:17316630 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) single nucleotide variant History of neurodevelopmental disorder [RCV000716195]|Kufor-Rakeb syndrome [RCV001089429]|not provided [RCV000710710] Chr1:16990172 [GRCh38]
Chr1:17316667 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV000815305]|not provided [RCV000512743] Chr1:16986292 [GRCh38]
Chr1:17312787 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1305G>C (p.Leu435=) single nucleotide variant not provided [RCV000513049] Chr1:16996387 [GRCh38]
Chr1:17322882 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3476T>C (p.Phe1159Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV000641066] Chr1:16986288 [GRCh38]
Chr1:17312783 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1895C>T (p.Ser632Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV000641065] Chr1:16992353 [GRCh38]
Chr1:17318848 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2260C>G (p.Leu754Val) single nucleotide variant Kufor-Rakeb syndrome [RCV000686300] Chr1:16990279 [GRCh38]
Chr1:17316774 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn) single nucleotide variant Kufor-Rakeb syndrome [RCV001084955]|Kufor-Rakeb syndrome [RCV001101082]|not provided [RCV000658183] Chr1:16993667 [GRCh38]
Chr1:17320162 [GRCh37]
Chr1:1p36.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.477+2T>G single nucleotide variant History of neurodevelopmental disorder [RCV000720496]|Kufor-Rakeb syndrome [RCV000702718]|Neurodegeneration with brain iron accumulation [RCV001269095]|not provided [RCV000658500] Chr1:17004690 [GRCh38]
Chr1:17331185 [GRCh37]
Chr1:1p36.13
likely pathogenic|conflicting interpretations of pathogenicity
NM_022089.4(ATP13A2):c.2251+6A>C single nucleotide variant not provided [RCV000658497] Chr1:16991728 [GRCh38]
Chr1:17318223 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His) single nucleotide variant Kufor-Rakeb syndrome [RCV000805352]|not provided [RCV000675886] Chr1:16986291 [GRCh38]
Chr1:17312786 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.*79C>T single nucleotide variant not provided [RCV000658496] Chr1:16986142 [GRCh38]
Chr1:17312637 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1354-24C>T single nucleotide variant not provided [RCV000675901] Chr1:16996188 [GRCh38]
Chr1:17322683 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.706-13G>T single nucleotide variant not provided [RCV000675907] Chr1:17000547 [GRCh38]
Chr1:17327042 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1542+3G>A single nucleotide variant Kufor-Rakeb syndrome [RCV000767897] Chr1:16995973 [GRCh38]
Chr1:17322468 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3405+9C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000768153]|Kufor-Rakeb syndrome [RCV001098910] Chr1:16986454 [GRCh38]
Chr1:17312949 [GRCh37]
Chr1:1p36.13
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.1819C>T (p.Leu607Phe) single nucleotide variant History of neurodevelopmental disorder [RCV000716919] Chr1:16992512 [GRCh38]
Chr1:17319007 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2763-16G>A single nucleotide variant Kufor-Rakeb syndrome [RCV001518795]|not provided [RCV000675897] Chr1:16988250 [GRCh38]
Chr1:17314745 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.1004C>T (p.Ala335Val) single nucleotide variant History of neurodevelopmental disorder [RCV000715187] Chr1:17000046 [GRCh38]
Chr1:17326541 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2557C>G (p.Arg853Gly) single nucleotide variant Kufor-Rakeb syndrome [RCV000698837] Chr1:16989743 [GRCh38]
Chr1:17316238 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000715879]|Kufor-Rakeb syndrome [RCV000878446] Chr1:16986235 [GRCh38]
Chr1:17312730 [GRCh37]
Chr1:1p36.13
benign|uncertain significance
NM_022089.4(ATP13A2):c.3236-30C>T single nucleotide variant not provided [RCV000675888] Chr1:16986662 [GRCh38]
Chr1:17313157 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.3235+13G>A single nucleotide variant not provided [RCV000675890] Chr1:16986792 [GRCh38]
Chr1:17313287 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.3083+24C>T single nucleotide variant not provided [RCV000675894] Chr1:16987022 [GRCh38]
Chr1:17313517 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2762+29G>A single nucleotide variant not provided [RCV000675898] Chr1:16988293 [GRCh38]
Chr1:17314788 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:17291706-18585289)x3 copy number gain not provided [RCV000684555] Chr1:17291706..18585289 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1781C>T (p.Ala594Val) single nucleotide variant not provided [RCV000710705] Chr1:16992550 [GRCh38]
Chr1:17319045 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3409G>A (p.Val1137Met) single nucleotide variant Kufor-Rakeb syndrome [RCV000687604] Chr1:16986355 [GRCh38]
Chr1:17312850 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3222G>A (p.Pro1074=) single nucleotide variant Kufor-Rakeb syndrome [RCV001441682]|not provided [RCV000710713] Chr1:16986818 [GRCh38]
Chr1:17313313 [GRCh37]
Chr1:1p36.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.940C>T (p.Pro314Ser) single nucleotide variant not provided [RCV000710715] Chr1:17000110 [GRCh38]
Chr1:17326605 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.902G>C (p.Gly301Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000717547] Chr1:17000251 [GRCh38]
Chr1:17326746 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.878T>C (p.Met293Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV000687505] Chr1:17000275 [GRCh38]
Chr1:17326770 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2T>G (p.Met1Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV000707316] Chr1:17011737 [GRCh38]
Chr1:17338232 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1630C>T (p.Arg544Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV000702087] Chr1:16993748 [GRCh38]
Chr1:17320243 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.385C>T (p.Arg129Trp) single nucleotide variant Kufor-Rakeb syndrome [RCV000702289] Chr1:17004784 [GRCh38]
Chr1:17331279 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3329A>G (p.Asn1110Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV000707646] Chr1:16986539 [GRCh38]
Chr1:17313034 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.813C>G (p.Ile271Met) single nucleotide variant Kufor-Rakeb syndrome [RCV000690980] Chr1:17000427 [GRCh38]
Chr1:17326922 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.769T>C (p.Tyr257His) single nucleotide variant Kufor-Rakeb syndrome [RCV000693793] Chr1:17000471 [GRCh38]
Chr1:17326966 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.574C>T (p.Arg192Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV000703021] Chr1:17002357 [GRCh38]
Chr1:17328852 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV000689446]|Kufor-Rakeb syndrome [RCV001098912] Chr1:16986554 [GRCh38]
Chr1:17313049 [GRCh37]
Chr1:1p36.13
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV000689547]|not provided [RCV001288806] Chr1:17004697 [GRCh38]
Chr1:17331192 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV000686544] Chr1:16987157 [GRCh38]
Chr1:17313652 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.656A>G (p.Asn219Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV000706438] Chr1:17002083 [GRCh38]
Chr1:17328578 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.252C>T (p.His84=) single nucleotide variant Kufor-Rakeb syndrome [RCV001081458]|not provided [RCV000710711] Chr1:17005410 [GRCh38]
Chr1:17331905 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.3059A>G (p.Tyr1020Cys) single nucleotide variant not provided [RCV000710712] Chr1:16987070 [GRCh38]
Chr1:17313565 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val) single nucleotide variant Kufor-Rakeb syndrome [RCV000709867]|Kufor-Rakeb syndrome [RCV001079927]|not provided [RCV000761644] Chr1:17000494 [GRCh38]
Chr1:17326989 [GRCh37]
Chr1:1p36.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_022089.4(ATP13A2):c.811A>G (p.Ile271Val) single nucleotide variant Kufor-Rakeb syndrome [RCV000699673] Chr1:17000429 [GRCh38]
Chr1:17326924 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.649G>A (p.Gly217Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV000705994]|Spastic paraplegia 78, autosomal recessive [RCV001331224] Chr1:17002090 [GRCh38]
Chr1:17328585 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met) single nucleotide variant History of neurodevelopmental disorder [RCV000718856]|Kufor-Rakeb syndrome [RCV001083694]|not provided [RCV000710707] Chr1:16991787 [GRCh38]
Chr1:17318282 [GRCh37]
Chr1:1p36.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_022089.4(ATP13A2):c.220C>T (p.Arg74Trp) single nucleotide variant not provided [RCV000710708] Chr1:17005442 [GRCh38]
Chr1:17331937 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.648C>T (p.Tyr216=) single nucleotide variant History of neurodevelopmental disorder [RCV000718143] Chr1:17002091 [GRCh38]
Chr1:17328586 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.761A>G (p.Asp254Gly) single nucleotide variant History of neurodevelopmental disorder [RCV000717668] Chr1:17000479 [GRCh38]
Chr1:17326974 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3145G>A (p.Val1049Met) single nucleotide variant History of neurodevelopmental disorder [RCV000717857] Chr1:16986895 [GRCh38]
Chr1:17313390 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1667C>T (p.Ala556Val) single nucleotide variant History of neurodevelopmental disorder [RCV000717760] Chr1:16993711 [GRCh38]
Chr1:17320206 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=) single nucleotide variant History of neurodevelopmental disorder [RCV000717577]|Kufor-Rakeb syndrome [RCV001086688]|Kufor-Rakeb syndrome [RCV001098911]|not provided [RCV000873633] Chr1:16986526 [GRCh38]
Chr1:17313021 [GRCh37]
Chr1:1p36.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.787A>G (p.Ile263Val) single nucleotide variant History of neurodevelopmental disorder [RCV000717641] Chr1:17000453 [GRCh38]
Chr1:17326948 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1399G>A (p.Val467Met) single nucleotide variant History of neurodevelopmental disorder [RCV000718363]|Kufor-Rakeb syndrome [RCV000805500] Chr1:16996119 [GRCh38]
Chr1:17322614 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2221A>C (p.Arg741=) single nucleotide variant History of neurodevelopmental disorder [RCV000719062]|Kufor-Rakeb syndrome [RCV001494785] Chr1:16991764 [GRCh38]
Chr1:17318259 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.786C>T (p.Cys262=) single nucleotide variant History of neurodevelopmental disorder [RCV000718828] Chr1:17000454 [GRCh38]
Chr1:17326949 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2271G>A (p.Ala757=) single nucleotide variant History of neurodevelopmental disorder [RCV000716216] Chr1:16990268 [GRCh38]
Chr1:17316763 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.3257C>T (p.Ala1086Val) single nucleotide variant History of neurodevelopmental disorder [RCV000720506]|Kufor-Rakeb syndrome [RCV001100727]|Kufor-Rakeb syndrome [RCV001205841] Chr1:16986611 [GRCh38]
Chr1:17313106 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=) single nucleotide variant History of neurodevelopmental disorder [RCV000720752]|Kufor-Rakeb syndrome [RCV001520966] Chr1:16991834 [GRCh38]
Chr1:17318329 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_022089.4(ATP13A2):c.1003G>T (p.Ala335Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000720657] Chr1:17000047 [GRCh38]
Chr1:17326542 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=) single nucleotide variant History of neurodevelopmental disorder [RCV000720709]|Kufor-Rakeb syndrome [RCV000876022]|Kufor-Rakeb syndrome [RCV001097436] Chr1:17005548 [GRCh38]
Chr1:17332043 [GRCh37]
Chr1:1p36.13
benign|likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1662A>T (p.Ala554=) single nucleotide variant History of neurodevelopmental disorder [RCV000720725]|not provided [RCV000960335] Chr1:16993716 [GRCh38]
Chr1:17320211 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.809C>G (p.Ser270Cys) single nucleotide variant History of neurodevelopmental disorder [RCV000720102] Chr1:17000431 [GRCh38]
Chr1:17326926 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2655C>T (p.Ala885=) single nucleotide variant History of neurodevelopmental disorder [RCV000720449]|not provided [RCV000906088] Chr1:16988429 [GRCh38]
Chr1:17314924 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1169A>C (p.His390Pro) single nucleotide variant History of neurodevelopmental disorder [RCV000720453] Chr1:16997046 [GRCh38]
Chr1:17323541 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1536C>T (p.Phe512=) single nucleotide variant History of neurodevelopmental disorder [RCV000720645]|Kufor-Rakeb syndrome [RCV000874591]|Kufor-Rakeb syndrome [RCV001097339] Chr1:16995982 [GRCh38]
Chr1:17322477 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_022089.4(ATP13A2):c.2039A>G (p.Tyr680Cys) single nucleotide variant History of neurodevelopmental disorder [RCV000720677] Chr1:16992096 [GRCh38]
Chr1:17318591 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000720847]|Kufor-Rakeb syndrome [RCV001071630] Chr1:16992115 [GRCh38]
Chr1:17318610 [GRCh37]
Chr1:1p36.13
uncertain significance
NC_000001.11:g.(?_16991714)_(16992601_?)del deletion Kufor-Rakeb syndrome [RCV000817928] Chr1:16991714..16992601 [GRCh38]
Chr1:17318209..17319096 [GRCh37]
Chr1:1p36.13
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.13(chr1:17277995-17397704)x1 copy number loss not provided [RCV000736440] Chr1:17277995..17397704 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:17325955-17389580)x3 copy number gain not provided [RCV000736441] Chr1:17325955..17389580 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.588C>T (p.Asp196=) single nucleotide variant Kufor-Rakeb syndrome [RCV001415247]|not provided [RCV000873831] Chr1:17002343 [GRCh38]
Chr1:17328838 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2199G>A (p.Thr733=) single nucleotide variant Kufor-Rakeb syndrome [RCV001431468]|not provided [RCV000937900] Chr1:16991786 [GRCh38]
Chr1:17318281 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1543-9C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000874239] Chr1:16993844 [GRCh38]
Chr1:17320339 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.3000C>T (p.Pro1000=) single nucleotide variant not provided [RCV000978119] Chr1:16987129 [GRCh38]
Chr1:17313624 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.24C>T (p.Leu8=) single nucleotide variant not provided [RCV000919533] Chr1:17005765 [GRCh38]
Chr1:17332260 [GRCh37]
Chr1:1p36.13
likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_022089.4(ATP13A2):c.2160G>T (p.Gly720=) single nucleotide variant Kufor-Rakeb syndrome [RCV001411679]|not provided [RCV000876394] Chr1:16991825 [GRCh38]
Chr1:17318320 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2124G>A (p.Thr708=) single nucleotide variant not provided [RCV000877471] Chr1:16992011 [GRCh38]
Chr1:17318506 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2919A>G (p.Thr973=) single nucleotide variant Kufor-Rakeb syndrome [RCV000945924] Chr1:16987210 [GRCh38]
Chr1:17313705 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.823C>T (p.Leu275=) single nucleotide variant Kufor-Rakeb syndrome [RCV000902397] Chr1:17000417 [GRCh38]
Chr1:17326912 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=) single nucleotide variant Kufor-Rakeb syndrome [RCV000878894]|Kufor-Rakeb syndrome [RCV001101081]|not specified [RCV001288805] Chr1:16992564 [GRCh38]
Chr1:17319059 [GRCh37]
Chr1:1p36.13
benign|likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu) single nucleotide variant Kufor-Rakeb syndrome [RCV001099190]|Kufor-Rakeb syndrome [RCV001430929]|not provided [RCV000945617] Chr1:16997136 [GRCh38]
Chr1:17323631 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.3327G>A (p.Arg1109=) single nucleotide variant not provided [RCV000876149] Chr1:16986541 [GRCh38]
Chr1:17313036 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1196-9C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000884770] Chr1:16996505 [GRCh38]
Chr1:17323000 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.816C>G (p.Cys272Trp) single nucleotide variant Kufor-Rakeb syndrome [RCV001045827] Chr1:17000424 [GRCh38]
Chr1:17326919 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.409del (p.Val137fs) deletion Kufor-Rakeb syndrome [RCV001066185] Chr1:17004760 [GRCh38]
Chr1:17331255 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.955G>C (p.Val319Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV001069031] Chr1:17000095 [GRCh38]
Chr1:17326590 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=) single nucleotide variant Kufor-Rakeb syndrome [RCV000768155] Chr1:16988444 [GRCh38]
Chr1:17314939 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1377C>T (p.Ile459=) single nucleotide variant Kufor-Rakeb syndrome [RCV001445347]|not provided [RCV000926346] Chr1:16996141 [GRCh38]
Chr1:17322636 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.997C>T (p.Leu333=) single nucleotide variant not provided [RCV000879488] Chr1:17000053 [GRCh38]
Chr1:17326548 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.528C>T (p.Ile176=) single nucleotide variant Kufor-Rakeb syndrome [RCV001438075]|not provided [RCV000945702] Chr1:17004361 [GRCh38]
Chr1:17330856 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.3205G>A (p.Ala1069Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV000951473] Chr1:16986835 [GRCh38]
Chr1:17313330 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2643T>C (p.Asn881=) single nucleotide variant not provided [RCV000919465] Chr1:16988441 [GRCh38]
Chr1:17314936 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) single nucleotide variant Kufor-Rakeb syndrome [RCV000875290]|Kufor-Rakeb syndrome [RCV001100993] Chr1:16986953 [GRCh38]
Chr1:17313448 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.2682G>A (p.Ser894=) single nucleotide variant Kufor-Rakeb syndrome [RCV001500990]|not provided [RCV000919504] Chr1:16988402 [GRCh38]
Chr1:17314897 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2628C>T (p.Cys876=) single nucleotide variant not provided [RCV000964710] Chr1:16988456 [GRCh38]
Chr1:17314951 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.106-5C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000876443]|Kufor-Rakeb syndrome [RCV001097437] Chr1:17005561 [GRCh38]
Chr1:17332056 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_022089.4(ATP13A2):c.42C>T (p.Thr14=) single nucleotide variant Kufor-Rakeb syndrome [RCV001097438]|Kufor-Rakeb syndrome [RCV001414389]|not provided [RCV000959404] Chr1:17005747 [GRCh38]
Chr1:17332242 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2762+9G>A single nucleotide variant Kufor-Rakeb syndrome [RCV001400198]|not provided [RCV000925846] Chr1:16988313 [GRCh38]
Chr1:17314808 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.69A>G (p.Thr23=) single nucleotide variant Kufor-Rakeb syndrome [RCV001489690]|not provided [RCV000917668] Chr1:17005720 [GRCh38]
Chr1:17332215 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.636-7C>T single nucleotide variant Kufor-Rakeb syndrome [RCV001424811]|not provided [RCV000939747] Chr1:17002110 [GRCh38]
Chr1:17328605 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2252-8A>T single nucleotide variant Kufor-Rakeb syndrome [RCV001087912]|not provided [RCV000874865] Chr1:16990295 [GRCh38]
Chr1:17316790 [GRCh37]
Chr1:1p36.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.111C>T (p.Leu37=) single nucleotide variant Kufor-Rakeb syndrome [RCV001470133]|not provided [RCV000883372] Chr1:17005551 [GRCh38]
Chr1:17332046 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln) single nucleotide variant not provided [RCV000952066] Chr1:16993690 [GRCh38]
Chr1:17320185 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.3384C>T (p.Phe1128=) single nucleotide variant Kufor-Rakeb syndrome [RCV001407329]|not provided [RCV000966560] Chr1:16986484 [GRCh38]
Chr1:17312979 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2529+8C>T single nucleotide variant Kufor-Rakeb syndrome [RCV001412653]|not provided [RCV000927745] Chr1:16989879 [GRCh38]
Chr1:17316374 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2983del (p.Ala995fs) deletion Kufor-Rakeb syndrome [RCV000778949] Chr1:16987146 [GRCh38]
Chr1:17313641 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1777_1778del (p.Ala594fs) deletion Kufor-Rakeb syndrome [RCV000778950] Chr1:16992553..16992554 [GRCh38]
Chr1:17319048..17319049 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2951C>T (p.Ala984Val) single nucleotide variant Kufor-Rakeb syndrome [RCV000809383] Chr1:16987178 [GRCh38]
Chr1:17313673 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met) single nucleotide variant Kufor-Rakeb syndrome [RCV000796885] Chr1:16987134 [GRCh38]
Chr1:17313629 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met) single nucleotide variant Kufor-Rakeb syndrome [RCV000801260]|Kufor-Rakeb syndrome [RCV001097440] Chr1:17005754 [GRCh38]
Chr1:17332249 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3535del (p.Pro1178_Leu1179insTer) deletion Kufor-Rakeb syndrome [RCV000796179] Chr1:16986229 [GRCh38]
Chr1:17312724 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV000795335] Chr1:16997112 [GRCh38]
Chr1:17323607 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.233G>A (p.Arg78Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV000807297] Chr1:17005429 [GRCh38]
Chr1:17331924 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1876C>T (p.His626Tyr) single nucleotide variant Kufor-Rakeb syndrome [RCV000801923] Chr1:16992372 [GRCh38]
Chr1:17318867 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro) single nucleotide variant Kufor-Rakeb syndrome [RCV001392172]|not provided [RCV000991571] Chr1:17011732 [GRCh38]
Chr1:17338227 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.706-3C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000810410] Chr1:17000537 [GRCh38]
Chr1:17327032 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2828C>T (p.Thr943Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV000799158] Chr1:16988169 [GRCh38]
Chr1:17314664 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1126T>C (p.Cys376Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV000795769] Chr1:16997089 [GRCh38]
Chr1:17323584 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1017G>C (p.Met339Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV000815801] Chr1:17000033 [GRCh38]
Chr1:17326528 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.431A>T (p.Asp144Val) single nucleotide variant Kufor-Rakeb syndrome [RCV000822972] Chr1:17004738 [GRCh38]
Chr1:17331233 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.509G>T (p.Gly170Val) single nucleotide variant Kufor-Rakeb syndrome [RCV000806734] Chr1:17004380 [GRCh38]
Chr1:17330875 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.212G>T (p.Trp71Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV000804051] Chr1:17005450 [GRCh38]
Chr1:17331945 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2978C>T (p.Pro993Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV000797938] Chr1:16987151 [GRCh38]
Chr1:17313646 [GRCh37]
Chr1:1p36.13
uncertain significance
GRCh37/hg19 1p36.13(chr1:17298230-17542448)x3 copy number gain not provided [RCV000849319] Chr1:17298230..17542448 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1749+2T>G single nucleotide variant Kufor-Rakeb syndrome [RCV000986259] Chr1:16993627 [GRCh38]
Chr1:17320122 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.*140C>G single nucleotide variant Kufor-Rakeb syndrome [RCV001097165] Chr1:16986081 [GRCh38]
Chr1:17312576 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.*9C>A single nucleotide variant Kufor-Rakeb syndrome [RCV001097167] Chr1:16986212 [GRCh38]
Chr1:17312707 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3157_3158del (p.Leu1053fs) microsatellite Kufor-Rakeb syndrome [RCV000818226] Chr1:16986882..16986883 [GRCh38]
Chr1:17313377..17313378 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.3235+10C>T single nucleotide variant not provided [RCV000896712] Chr1:16986795 [GRCh38]
Chr1:17313290 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1896G>A (p.Ser632=) single nucleotide variant Kufor-Rakeb syndrome [RCV000808456] Chr1:16992352 [GRCh38]
Chr1:17318847 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.39C>T (p.Pro13=) single nucleotide variant not provided [RCV000964678] Chr1:17005750 [GRCh38]
Chr1:17332245 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=) single nucleotide variant Kufor-Rakeb syndrome [RCV001097439]|not provided [RCV000875247] Chr1:17005753 [GRCh38]
Chr1:17332248 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1634G>A (p.Arg545His) single nucleotide variant Kufor-Rakeb syndrome [RCV000800928] Chr1:16993744 [GRCh38]
Chr1:17320239 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.658G>A (p.Val220Met) single nucleotide variant Kufor-Rakeb syndrome [RCV000814279] Chr1:17002081 [GRCh38]
Chr1:17328576 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.859G>A (p.Asp287Asn) single nucleotide variant Kufor-Rakeb syndrome [RCV000850229] Chr1:17000294 [GRCh38]
Chr1:17326789 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2517G>C (p.Lys839Asn) single nucleotide variant Kufor-Rakeb syndrome [RCV001099009] Chr1:16989899 [GRCh38]
Chr1:17316394 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV001208994]|Kufor-Rakeb syndrome [RCV001262242]|not provided [RCV000993930] Chr1:17000401 [GRCh38]
Chr1:17326896 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3042C>T (p.Gly1014=) single nucleotide variant Kufor-Rakeb syndrome [RCV001210352] Chr1:16987087 [GRCh38]
Chr1:17313582 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1205C>T (p.Thr402Met) single nucleotide variant not provided [RCV000993929] Chr1:16996487 [GRCh38]
Chr1:17322982 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3458G>A (p.Arg1153Gln) single nucleotide variant ATP13A2-related disorders [RCV001249719]|Kufor-Rakeb syndrome [RCV001298880] Chr1:16986306 [GRCh38]
Chr1:17312801 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2422C>G (p.Gln808Glu) single nucleotide variant Kufor-Rakeb syndrome [RCV001220773] Chr1:16989994 [GRCh38]
Chr1:17316489 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.706-14C>T single nucleotide variant Kufor-Rakeb syndrome [RCV001101185] Chr1:17000548 [GRCh38]
Chr1:17327043 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.-171G>C single nucleotide variant Kufor-Rakeb syndrome [RCV001097529] Chr1:17011909 [GRCh38]
Chr1:17338404 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1864G>T (p.Val622Phe) single nucleotide variant Kufor-Rakeb syndrome [RCV001224906] Chr1:16992384 [GRCh38]
Chr1:17318879 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1306G>A (p.Ala436Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV001226802] Chr1:16996386 [GRCh38]
Chr1:17322881 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2218C>G (p.Arg740Gly) single nucleotide variant Kufor-Rakeb syndrome [RCV001230910] Chr1:16991767 [GRCh38]
Chr1:17318262 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.994G>A (p.Ala332Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV001231560] Chr1:17000056 [GRCh38]
Chr1:17326551 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1465C>T (p.Arg489Trp) single nucleotide variant Kufor-Rakeb syndrome [RCV001236266] Chr1:16996053 [GRCh38]
Chr1:17322548 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2634C>T (p.Asp878=) single nucleotide variant not provided [RCV000894774] Chr1:16988450 [GRCh38]
Chr1:17314945 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.435G>A (p.Thr145=) single nucleotide variant Kufor-Rakeb syndrome [RCV001439439]|not provided [RCV000952204] Chr1:17004734 [GRCh38]
Chr1:17331229 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.423C>T (p.Ala141=) single nucleotide variant Kufor-Rakeb syndrome [RCV000878856] Chr1:17004746 [GRCh38]
Chr1:17331241 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2709C>G (p.Val903=) single nucleotide variant Kufor-Rakeb syndrome [RCV001395323]|not provided [RCV000952435] Chr1:16988375 [GRCh38]
Chr1:17314870 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.3490C>A (p.Arg1164=) single nucleotide variant not provided [RCV000970622] Chr1:16986274 [GRCh38]
Chr1:17312769 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2013C>T (p.Thr671=) single nucleotide variant Kufor-Rakeb syndrome [RCV000951811] Chr1:16992122 [GRCh38]
Chr1:17318617 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2061C>T (p.Val687=) single nucleotide variant Kufor-Rakeb syndrome [RCV000886983] Chr1:16992074 [GRCh38]
Chr1:17318569 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.705+228A>G single nucleotide variant Kufor-Rakeb syndrome [RCV001522532]|not provided [RCV000873540] Chr1:17001806 [GRCh38]
Chr1:17328301 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.1629T>A (p.Pro543=) single nucleotide variant not provided [RCV000876557] Chr1:16993749 [GRCh38]
Chr1:17320244 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1847A>C (p.Glu616Ala) single nucleotide variant Kufor-Rakeb syndrome [RCV001217684]|not provided [RCV001092586] Chr1:16992401 [GRCh38]
Chr1:17318896 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.*182C>T single nucleotide variant Kufor-Rakeb syndrome [RCV001100903] Chr1:16986039 [GRCh38]
Chr1:17312534 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV001101079]|not provided [RCV001509024] Chr1:16992378 [GRCh38]
Chr1:17318873 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.840G>T (p.Lys280Asn) single nucleotide variant Kufor-Rakeb syndrome [RCV001101184] Chr1:17000400 [GRCh38]
Chr1:17326895 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.601C>T (p.Arg201Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV001101186]|Kufor-Rakeb syndrome [RCV001224204] Chr1:17002330 [GRCh38]
Chr1:17328825 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2593G>A (p.Glu865Lys) single nucleotide variant ATP13A2-related disorders [RCV001249720] Chr1:16989707 [GRCh38]
Chr1:17316202 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val) single nucleotide variant Kufor-Rakeb syndrome [RCV001062022] Chr1:17004762 [GRCh38]
Chr1:17331257 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His) single nucleotide variant Kufor-Rakeb syndrome [RCV001099008] Chr1:16989742 [GRCh38]
Chr1:17316237 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1658G>A (p.Arg553Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV001203112] Chr1:16993720 [GRCh38]
Chr1:17320215 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1112G>A (p.Arg371Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV001099188] Chr1:16997103 [GRCh38]
Chr1:17323598 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2135_2136del (p.Val712fs) microsatellite Kufor-Rakeb syndrome [RCV001095688] Chr1:16991849..16991850 [GRCh38]
Chr1:17318344..17318345 [GRCh37]
Chr1:1p36.13
likely pathogenic
NM_022089.4(ATP13A2):c.3538A>T (p.Arg1180Trp) single nucleotide variant Kufor-Rakeb syndrome [RCV001048679] Chr1:16986226 [GRCh38]
Chr1:17312721 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.146G>T (p.Gly49Val) single nucleotide variant Kufor-Rakeb syndrome [RCV001048775]|not provided [RCV001509026] Chr1:17005516 [GRCh38]
Chr1:17332011 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1307-14C>T single nucleotide variant Kufor-Rakeb syndrome [RCV001099097] Chr1:16996314 [GRCh38]
Chr1:17322809 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.-99G>C single nucleotide variant Kufor-Rakeb syndrome [RCV001097441] Chr1:17011837 [GRCh38]
Chr1:17338332 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1102A>G (p.Thr368Ala) single nucleotide variant Kufor-Rakeb syndrome [RCV001061660] Chr1:16997113 [GRCh38]
Chr1:17323608 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3112G>A (p.Ala1038Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV001100992] Chr1:16986928 [GRCh38]
Chr1:17313423 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1774G>A (p.Asp592Asn) single nucleotide variant Kufor-Rakeb syndrome [RCV001101080] Chr1:16992557 [GRCh38]
Chr1:17319052 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.*151dup duplication not provided [RCV001092583] Chr1:16986069..16986070 [GRCh38]
Chr1:17312564..17312565 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.*231G>A single nucleotide variant Kufor-Rakeb syndrome [RCV001100902] Chr1:16985990 [GRCh38]
Chr1:17312485 [GRCh37]
Chr1:1p36.13
benign
NM_022089.4(ATP13A2):c.595C>T (p.Arg199Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV001049143] Chr1:17002336 [GRCh38]
Chr1:17328831 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.461C>T (p.Ala154Val) single nucleotide variant Kufor-Rakeb syndrome [RCV001059423] Chr1:17004708 [GRCh38]
Chr1:17331203 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1845+1G>A single nucleotide variant Kufor-Rakeb syndrome [RCV001059802] Chr1:16992485 [GRCh38]
Chr1:17318980 [GRCh37]
Chr1:1p36.13
likely pathogenic
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV001061799]|not provided [RCV001092584] Chr1:16986246 [GRCh38]
Chr1:17312741 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV001036883] Chr1:17004813 [GRCh38]
Chr1:17331308 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.394G>A (p.Ala132Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV001046328] Chr1:17004775 [GRCh38]
Chr1:17331270 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1105C>G (p.His369Asp) single nucleotide variant Kufor-Rakeb syndrome [RCV001048271] Chr1:16997110 [GRCh38]
Chr1:17323605 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.*58A>G single nucleotide variant Kufor-Rakeb syndrome [RCV001097166] Chr1:16986163 [GRCh38]
Chr1:17312658 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2770C>T (p.Arg924Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV001097256] Chr1:16988227 [GRCh38]
Chr1:17314722 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3235+15G>A single nucleotide variant Kufor-Rakeb syndrome [RCV001100728] Chr1:16986790 [GRCh38]
Chr1:17313285 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3068C>T (p.Thr1023Ile) single nucleotide variant not provided [RCV001092585] Chr1:16987061 [GRCh38]
Chr1:17313556 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1111C>T (p.Arg371Trp) single nucleotide variant not provided [RCV001092587] Chr1:16997104 [GRCh38]
Chr1:17323599 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2927T>G (p.Val976Gly) single nucleotide variant Kufor-Rakeb syndrome [RCV001100994] Chr1:16987202 [GRCh38]
Chr1:17313697 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1880G>A (p.Arg627His) single nucleotide variant Kufor-Rakeb syndrome [RCV001203766]|none provided [RCV001289880] Chr1:16992368 [GRCh38]
Chr1:17318863 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV001246434] Chr1:16986325 [GRCh38]
Chr1:17312820 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.157G>A (p.Val53Met) single nucleotide variant Kufor-Rakeb syndrome [RCV001224405] Chr1:17005505 [GRCh38]
Chr1:17332000 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1387G>C (p.Asp463His) single nucleotide variant Kufor-Rakeb syndrome [RCV001097340] Chr1:16996131 [GRCh38]
Chr1:17322626 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1321A>T (p.Ile441Phe) single nucleotide variant Kufor-Rakeb syndrome [RCV001247083] Chr1:16996286 [GRCh38]
Chr1:17322781 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2326G>C (p.Val776Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV001205218] Chr1:16990213 [GRCh38]
Chr1:17316708 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2190G>T (p.Pro730=) single nucleotide variant Kufor-Rakeb syndrome [RCV001100828] Chr1:16991795 [GRCh38]
Chr1:17318290 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.518A>G (p.Tyr173Cys) single nucleotide variant not provided [RCV001092588] Chr1:17004371 [GRCh38]
Chr1:17330866 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.668T>C (p.Ile223Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV001230457] Chr1:17002071 [GRCh38]
Chr1:17328566 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.558-1G>T single nucleotide variant Kufor-Rakeb syndrome [RCV001095707] Chr1:17002374 [GRCh38]
Chr1:17328869 [GRCh37]
Chr1:1p36.13
likely pathogenic
NM_022089.4(ATP13A2):c.515G>A (p.Arg172His) single nucleotide variant Kufor-Rakeb syndrome [RCV001101187] Chr1:17004374 [GRCh38]
Chr1:17330869 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2544C>T (p.Gly848=) single nucleotide variant Kufor-Rakeb syndrome [RCV001304596] Chr1:16989756 [GRCh38]
Chr1:17316251 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1749+442_2251+512del deletion Kufor-Rakeb syndrome [RCV001255980] Chr1:16991222..16993187 [GRCh38]
Chr1:17317717..17319682 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.265G>A (p.Val89Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV001331223] Chr1:17005397 [GRCh38]
Chr1:17331892 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter) single nucleotide variant Spastic paraplegia 78, autosomal recessive [RCV001262240] Chr1:16993721 [GRCh38]
Chr1:17320216 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.1544C>T (p.Thr515Met) single nucleotide variant Inborn genetic diseases [RCV001265807] Chr1:16993834 [GRCh38]
Chr1:17320329 [GRCh37]
Chr1:1p36.13
uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1 copy number loss not provided [RCV001259567] Chr1:17284906..21778495 [GRCh37]
Chr1:1p36.13-36.12
pathogenic
GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1 copy number loss not provided [RCV001259568] Chr1:16041431..21295864 [GRCh37]
Chr1:1p36.21-36.12
pathogenic
NM_022089.4(ATP13A2):c.348C>G (p.Ser116Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV001314682] Chr1:17004821 [GRCh38]
Chr1:17331316 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1843A>G (p.Met615Val) single nucleotide variant Kufor-Rakeb syndrome [RCV001329886]|Kufor-Rakeb syndrome [RCV001365130] Chr1:16992488 [GRCh38]
Chr1:17318983 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2525C>G (p.Pro842Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV001333121] Chr1:16989891 [GRCh38]
Chr1:17316386 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2663C>T (p.Ala888Val) single nucleotide variant Kufor-Rakeb syndrome [RCV001326300] Chr1:16988421 [GRCh38]
Chr1:17314916 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2859+5G>C single nucleotide variant Kufor-Rakeb syndrome [RCV001337761] Chr1:16988133 [GRCh38]
Chr1:17314628 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.212G>C (p.Trp71Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV001350251] Chr1:17005450 [GRCh38]
Chr1:17331945 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1957G>A (p.Val653Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV001350763] Chr1:16992291 [GRCh38]
Chr1:17318786 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2580A>G (p.Thr860=) single nucleotide variant Kufor-Rakeb syndrome [RCV001391944] Chr1:16989720 [GRCh38]
Chr1:17316215 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1384C>G (p.Leu462Val) single nucleotide variant Kufor-Rakeb syndrome [RCV001359573] Chr1:16996134 [GRCh38]
Chr1:17322629 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1064C>T (p.Thr355Met) single nucleotide variant Kufor-Rakeb syndrome [RCV001360951] Chr1:16997151 [GRCh38]
Chr1:17323646 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2309A>G (p.Gln770Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV001346511] Chr1:16990230 [GRCh38]
Chr1:17316725 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3151_3152del (p.Phe1051fs) deletion Spastic paraplegia 78, autosomal recessive [RCV001333123] Chr1:16986888..16986889 [GRCh38]
Chr1:17313383..17313384 [GRCh37]
Chr1:1p36.13
likely pathogenic
NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val) single nucleotide variant Kufor-Rakeb syndrome [RCV001365128] Chr1:16992323 [GRCh38]
Chr1:17318818 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1466G>T (p.Arg489Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV001346004] Chr1:16996052 [GRCh38]
Chr1:17322547 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1649C>A (p.Pro550His) single nucleotide variant Kufor-Rakeb syndrome [RCV001372060] Chr1:16993729 [GRCh38]
Chr1:17320224 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.1591C>G (p.Leu531Val) single nucleotide variant Kufor-Rakeb syndrome [RCV001318873] Chr1:16993787 [GRCh38]
Chr1:17320282 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.722A>G (p.Tyr241Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV001306020] Chr1:17000518 [GRCh38]
Chr1:17327013 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.841C>G (p.Gln281Glu) single nucleotide variant Kufor-Rakeb syndrome [RCV001314156] Chr1:17000312 [GRCh38]
Chr1:17326807 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2978C>G (p.Pro993Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV001359141] Chr1:16987151 [GRCh38]
Chr1:17313646 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2082A>G (p.Pro694=) single nucleotide variant Kufor-Rakeb syndrome [RCV001395868] Chr1:16992053 [GRCh38]
Chr1:17318548 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.778G>A (p.Ala260Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV001365485] Chr1:17000462 [GRCh38]
Chr1:17326957 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2270C>T (p.Ala757Val) single nucleotide variant Kufor-Rakeb syndrome [RCV001370555] Chr1:16990269 [GRCh38]
Chr1:17316764 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2771G>A (p.Arg924His) single nucleotide variant Kufor-Rakeb syndrome [RCV001365900] Chr1:16988226 [GRCh38]
Chr1:17314721 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2742G>A (p.Glu914=) single nucleotide variant Kufor-Rakeb syndrome [RCV001458202] Chr1:16988342 [GRCh38]
Chr1:17314837 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1170C>T (p.His390=) single nucleotide variant Kufor-Rakeb syndrome [RCV001462607] Chr1:16997045 [GRCh38]
Chr1:17323540 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1234T>C (p.Leu412=) single nucleotide variant Kufor-Rakeb syndrome [RCV001503299] Chr1:16996458 [GRCh38]
Chr1:17322953 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.471C>T (p.Val157=) single nucleotide variant Kufor-Rakeb syndrome [RCV001455486] Chr1:17004698 [GRCh38]
Chr1:17331193 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1341C>T (p.Leu447=) single nucleotide variant Kufor-Rakeb syndrome [RCV001428756] Chr1:16996266 [GRCh38]
Chr1:17322761 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.270C>T (p.Ile90=) single nucleotide variant Kufor-Rakeb syndrome [RCV001468139] Chr1:17005392 [GRCh38]
Chr1:17331887 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2820C>T (p.Tyr940=) single nucleotide variant Kufor-Rakeb syndrome [RCV001456017] Chr1:16988177 [GRCh38]
Chr1:17314672 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1353+8T>C single nucleotide variant Kufor-Rakeb syndrome [RCV001483332] Chr1:16996246 [GRCh38]
Chr1:17322741 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1137C>G (p.Leu379=) single nucleotide variant Kufor-Rakeb syndrome [RCV001489342] Chr1:16997078 [GRCh38]
Chr1:17323573 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter) single nucleotide variant Kufor-Rakeb syndrome [RCV001388838] Chr1:16986904 [GRCh38]
Chr1:17313399 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.2146del (p.Asp715_Leu716insTer) deletion Kufor-Rakeb syndrome [RCV001388839] Chr1:16991839 [GRCh38]
Chr1:17318334 [GRCh37]
Chr1:1p36.13
pathogenic
NM_022089.4(ATP13A2):c.2994C>T (p.Ser998=) single nucleotide variant Kufor-Rakeb syndrome [RCV001409465] Chr1:16987135 [GRCh38]
Chr1:17313630 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.699G>T (p.Val233=) single nucleotide variant Kufor-Rakeb syndrome [RCV001443505] Chr1:17002040 [GRCh38]
Chr1:17328535 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1755G>A (p.Leu585=) single nucleotide variant Kufor-Rakeb syndrome [RCV001407746] Chr1:16992576 [GRCh38]
Chr1:17319071 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1218C>T (p.Gly406=) single nucleotide variant Kufor-Rakeb syndrome [RCV001393109] Chr1:16996474 [GRCh38]
Chr1:17322969 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2685G>A (p.Leu895=) single nucleotide variant Kufor-Rakeb syndrome [RCV001437657] Chr1:16988399 [GRCh38]
Chr1:17314894 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.3321G>A (p.Ala1107=) single nucleotide variant Kufor-Rakeb syndrome [RCV001419755] Chr1:16986547 [GRCh38]
Chr1:17313042 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.244C>T (p.Leu82=) single nucleotide variant Kufor-Rakeb syndrome [RCV001406477] Chr1:17005418 [GRCh38]
Chr1:17331913 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.723T>C (p.Tyr241=) single nucleotide variant Kufor-Rakeb syndrome [RCV001419983] Chr1:17000517 [GRCh38]
Chr1:17327012 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1398C>T (p.Thr466=) single nucleotide variant Kufor-Rakeb syndrome [RCV001495282] Chr1:16996120 [GRCh38]
Chr1:17322615 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1167G>A (p.Pro389=) single nucleotide variant Kufor-Rakeb syndrome [RCV001480533] Chr1:16997048 [GRCh38]
Chr1:17323543 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp) single nucleotide variant not provided [RCV001509025] Chr1:16996449 [GRCh38]
Chr1:17322944 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.2454C>T (p.Pro818=) single nucleotide variant Kufor-Rakeb syndrome [RCV001462440] Chr1:16989962 [GRCh38]
Chr1:17316457 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.59C>T (p.Thr20Met) single nucleotide variant not provided [RCV001509027] Chr1:17005730 [GRCh38]
Chr1:17332225 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=) single nucleotide variant Kufor-Rakeb syndrome [RCV001461696] Chr1:16986263 [GRCh38]
Chr1:17312758 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.1869C>T (p.Ser623=) single nucleotide variant Kufor-Rakeb syndrome [RCV001499214] Chr1:16992379 [GRCh38]
Chr1:17318874 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2943G>A (p.Thr981=) single nucleotide variant Kufor-Rakeb syndrome [RCV001427365] Chr1:16987186 [GRCh38]
Chr1:17313681 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.3207G>A (p.Ala1069=) single nucleotide variant Kufor-Rakeb syndrome [RCV001426019] Chr1:16986833 [GRCh38]
Chr1:17313328 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2397C>T (p.Ala799=) single nucleotide variant Kufor-Rakeb syndrome [RCV001434946] Chr1:16990142 [GRCh38]
Chr1:17316637 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2133T>C (p.Thr711=) single nucleotide variant Kufor-Rakeb syndrome [RCV001483842] Chr1:16991852 [GRCh38]
Chr1:17318347 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.822G>A (p.Ser274=) single nucleotide variant Kufor-Rakeb syndrome [RCV001437306] Chr1:17000418 [GRCh38]
Chr1:17326913 [GRCh37]
Chr1:1p36.13
likely benign
NM_022089.4(ATP13A2):c.2796C>T (p.Ser932=) single nucleotide variant Kufor-Rakeb syndrome [RCV001488917] Chr1:16988201 [GRCh38]
Chr1:17314696 [GRCh37]
Chr1:1p36.13
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30213 AgrOrtholog
COSMIC ATP13A2 COSMIC
Ensembl Genes ENSG00000159363 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000327214 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000341115 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000413307 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421126 UniProtKB/TrEMBL
  ENSP00000422227 UniProtKB/TrEMBL
  ENSP00000422668 UniProtKB/TrEMBL
  ENSP00000423065 UniProtKB/TrEMBL
  ENSP00000424313 UniProtKB/TrEMBL
  ENSP00000424393 UniProtKB/TrEMBL
  ENSP00000427241 UniProtKB/TrEMBL
Ensembl Transcript ENST00000326735 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000341676 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000452699 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000502418 UniProtKB/TrEMBL
  ENST00000503552 UniProtKB/TrEMBL
  ENST00000506174 UniProtKB/TrEMBL
  ENST00000508222 UniProtKB/TrEMBL
  ENST00000509619 UniProtKB/TrEMBL
  ENST00000510069 UniProtKB/TrEMBL
  ENST00000511957 UniProtKB/TrEMBL
Gene3D-CATH 3.40.1110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000159363 GTEx
HGNC ID HGNC:30213 ENTREZGENE
Human Proteome Map ATP13A2 Human Proteome Map
InterPro ATPase_P-typ_cyto_dom_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_P_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_TM_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_transduc_dom_A_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-type_TPase_V UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase_HD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23400 UniProtKB/Swiss-Prot
NCBI Gene 23400 ENTREZGENE
OMIM 606693 OMIM
  610513 OMIM
  617225 OMIM
Pfam P5-ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134897221 PharmGKB
PROSITE ATPASE_E1_E2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81653 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81660 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81665 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs ATPase_P-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-ATPase-V UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AT132_HUMAN UniProtKB/Swiss-Prot
  H0Y8I1_HUMAN UniProtKB/TrEMBL
  H0Y8V5_HUMAN UniProtKB/TrEMBL
  H0Y8Z6_HUMAN UniProtKB/TrEMBL
  H0Y953_HUMAN UniProtKB/TrEMBL
  H0Y9K0_HUMAN UniProtKB/TrEMBL
  H0Y9K4_HUMAN UniProtKB/TrEMBL
  H0YAI7_HUMAN UniProtKB/TrEMBL
  Q8N4D4 ENTREZGENE, UniProtKB/TrEMBL
  Q8NBS1 ENTREZGENE, UniProtKB/TrEMBL
  Q9NQ11 ENTREZGENE
UniProt Secondary O75700 UniProtKB/Swiss-Prot
  Q5JXY1 UniProtKB/Swiss-Prot
  Q5JXY2 UniProtKB/Swiss-Prot
  Q6S9Z9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-03-06 ATP13A2  ATPase cation transporting 13A2    ATPase 13A2  Symbol and/or name change 5135510 APPROVED
2016-03-14 ATP13A2  ATPase 13A2  PARK9  Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)  Data Merged 737654 PROVISIONAL
2016-02-16 ATP13A2  ATPase 13A2    ATPase type 13A2  Symbol and/or name change 5135510 APPROVED
2011-08-16 ATP13A2  ATPase type 13A2  ATP13A2  ATPase type 13A2  Symbol and/or name change 5135510 APPROVED