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:30213
Description: Enables phosphatidic acid binding activity; phosphatidylinositol-3,5-bisphosphate binding activity; and polyamine transmembrane transporter activity. Involved in several processes, including intracellular monoatomic cation homeostasis; macroautophagy; and positive regulation of secretion by cell. Located in several cellular components, including cytoplasmic vesicle; neuronal cell body; and vacuole. Implicated in Kufor-Rakeb syndrome; Parkinson's disease; and hereditary spastic paraplegia 78.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,985,958 - 17,011,928 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl116,985,958 - 17,011,928 (-)EnsemblGRCh38hg38GRCh38
GRCh37117,312,453 - 17,338,423 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36117,185,040 - 17,210,854 (-)NCBINCBI36Build 36hg18NCBI36
Build 34117,057,758 - 17,083,573NCBI
Celera115,634,791 - 15,660,760 (-)NCBICelera
Cytogenetic Map1p36.13NCBI
HuRef115,556,532 - 15,582,505 (-)NCBIHuRef
CHM1_1117,420,791 - 17,446,761 (-)NCBICHM1_1
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBIT2T-CHM13v2.0
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  (IBA,IEA,IMP)
autophagy  (IEA,IMP)
cellular response to manganese ion  (IMP,TAS)
cellular response to oxidative stress  (IEA,IMP,TAS)
cellular response to zinc ion  (TAS)
extracellular exosome biogenesis  (IMP)
intracellular calcium ion homeostasis  (IBA,IDA)
intracellular iron ion homeostasis  (IMP)
intracellular monoatomic cation homeostasis  (TAS)
intracellular zinc ion homeostasis  (IEA,IMP)
lipid homeostasis  (IMP)
lysosomal transport  (IMP)
monoatomic cation transmembrane transport  (IEA)
monoatomic ion transmembrane transport  (TAS)
negative regulation of lysosomal protein catabolic process  (TAS)
polyamine transmembrane transport  (IBA,IDA)
positive regulation of exosomal secretion  (IDA,IEA,IMP)
positive regulation of gene expression  (IMP)
positive regulation of protein secretion  (IMP)
protein localization to lysosome  (IEA,IMP)
regulation of autophagosome size  (IBA,IDA,IEA,ISO)
regulation of autophagy of mitochondrion  (TAS)
regulation of chaperone-mediated autophagy  (TAS)
regulation of intracellular protein transport  (NAS)
regulation of lysosomal protein catabolic process  (IEA,IGI,IMP)
regulation of macroautophagy  (IMP,TAS)
regulation of mitochondrion organization  (IBA,IDA,IEA,IMP,ISO)
regulation of neuron apoptotic process  (ISS)
regulation of protein localization to nucleus  (IEA,IMP)
regulation of ubiquitin-specific protease activity  (IMP)
spermine transmembrane transport  (IMP)
transmembrane transport  (IEA)

Cellular Component

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 finger morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of mental function  (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)
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)
Hypertonia  (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)
Lower limb hyperreflexia  (IAGP)
Mask-like facies  (IAGP)
Mental deterioration  (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 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)
Skeletal muscle atrophy  (IAGP)
Slow saccadic eye movements  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraparesis  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Stooped posture  (IAGP)
Strabismus  (IAGP)
Supranuclear gaze palsy  (IAGP)
Tongue muscle weakness  (IAGP)
Torticollis  (IAGP)
Tremor  (IAGP)
Upgaze palsy  (IAGP)
Upper limb hyperreflexia  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Urinary incontinence  (IAGP)
Urinary urgency  (IAGP)
Vertical supranuclear gaze palsy  (IAGP)
Visual hallucination  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Genes associated with Parkinson's disease: regulation of autophagy and beyond. Beilina A and Cookson MR, J Neurochem. 2015 Jul 30. doi: 10.1111/jnc.13266.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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:33091395  
PMID:33229544   PMID:33335927   PMID:33799982   PMID:33961781   PMID:34079125   PMID:34695705   PMID:34715013   PMID:34715014   PMID:34798056   PMID:34827672   PMID:35748872   PMID:36215168  
PMID:36445873   PMID:37080960   PMID:37243374  


Genomics

Comparative Map Data
ATP13A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,985,958 - 17,011,928 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl116,985,958 - 17,011,928 (-)EnsemblGRCh38hg38GRCh38
GRCh37117,312,453 - 17,338,423 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36117,185,040 - 17,210,854 (-)NCBINCBI36Build 36hg18NCBI36
Build 34117,057,758 - 17,083,573NCBI
Celera115,634,791 - 15,660,760 (-)NCBICelera
Cytogenetic Map1p36.13NCBI
HuRef115,556,532 - 15,582,505 (-)NCBIHuRef
CHM1_1117,420,791 - 17,446,761 (-)NCBICHM1_1
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBIT2T-CHM13v2.0
Atp13a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394140,711,812 - 140,734,641 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4140,714,184 - 140,734,641 (+)EnsemblGRCm39 Ensembl
GRCm384140,986,216 - 141,007,330 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4140,986,873 - 141,007,330 (+)EnsemblGRCm38mm10GRCm38
MGSCv374140,542,788 - 140,563,616 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364140,259,004 - 140,279,406 (+)NCBIMGSCv36mm8
Celera4142,787,644 - 142,807,639 (+)NCBICelera
Cytogenetic Map4D3NCBI
cM Map473.29NCBI
Atp13a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85158,575,727 - 158,595,157 (+)NCBIGRCr8
mRatBN7.25153,292,722 - 153,312,143 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5153,292,751 - 153,312,139 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5155,981,005 - 156,000,631 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05157,754,276 - 157,773,902 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05157,743,460 - 157,763,086 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05159,512,208 - 159,531,631 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5159,512,285 - 159,531,637 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05163,224,470 - 163,243,886 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45159,847,016 - 159,866,362 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v21210,118,487 - 210,144,515 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11209,237,298 - 209,263,315 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0115,929,613 - 15,955,631 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
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
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0281,842,888 - 81,861,861 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl281,842,987 - 81,861,861 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1278,595,908 - 78,614,871 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0279,612,457 - 79,631,767 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0280,680,908 - 80,699,865 (+)NCBIUU_Cfam_GSD_1.0
Atp13a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505838,143,432 - 38,156,097 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364743,968,506 - 3,980,815 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364743,968,216 - 3,980,821 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP13A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl675,618,319 - 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 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20115,578,261 - 115,605,647 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666033515,071 - 542,556 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atp13a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247642,614,827 - 2,631,793 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247642,614,541 - 2,631,972 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATP13A2
1056 total Variants

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]|not provided [RCV003480676] 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]|Kufor-Rakeb syndrome [RCV001851532]|not provided [RCV004719607] Chr1:16996381 [GRCh38]
Chr1:17322876 [GRCh37]
Chr1:1p36.13		 pathogenic|likely pathogenic
NM_022089.4(ATP13A2):c.1633_1654dup (p.Leu552fs) duplication Kufor-Rakeb syndrome [RCV000001279] Chr1:16993723..16993724 [GRCh38]
Chr1:17320218..17320219 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.11-227G>A single nucleotide variant not provided [RCV001564601] Chr1:17006005 [GRCh38]
Chr1:17332500 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala) single nucleotide variant Inborn genetic diseases [RCV002311982]|Kufor-Rakeb syndrome [RCV001088876]|Kufor-Rakeb syndrome [RCV001100829]|not provided [RCV000710706] Chr1:16992042 [GRCh38]
Chr1:17318537 [GRCh37]
Chr1:1p36.13		 benign|likely benign
NM_022089.4(ATP13A2):c.3084-10G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002060965]|not provided [RCV000727909] Chr1:16986966 [GRCh38]
Chr1:17313461 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV001329887]|Inborn genetic diseases [RCV004965558]|Kufor-Rakeb syndrome [RCV000762864]|not provided [RCV002223864] 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]|not provided [RCV004791549]|not specified [RCV003155230] Chr1:16991749 [GRCh38]
Chr1:17318244 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2412G>A (p.Lys804=) single nucleotide variant Inborn genetic diseases [RCV002448695]|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]|Kufor-Rakeb syndrome [RCV001857477]|not specified [RCV003114286] Chr1:17004399 [GRCh38]
Chr1:17330894 [GRCh37]
Chr1:1p36.13		 pathogenic|uncertain significance
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]|Kufor-Rakeb syndrome [RCV001851533]|Neurodegeneration with brain iron accumulation [RCV004766975]|See cases [RCV002251851] Chr1:16996008 [GRCh38]
Chr1:17322503 [GRCh37]
Chr1:1p36.13		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
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]|Kufor-Rakeb syndrome [RCV002513784]|not provided [RCV004777569] 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 Inborn genetic diseases [RCV002312025]|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 Inborn genetic diseases [RCV002313853]|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 Autosomal recessive spastic paraplegia type 78 [RCV001554186]|Inborn genetic diseases [RCV002312026]|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 Autosomal recessive spastic paraplegia type 78 [RCV001554185]|Inborn genetic diseases [RCV002312027]|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 Inborn genetic diseases [RCV002313854]|Kufor-Rakeb syndrome [RCV000535895]|Kufor-Rakeb syndrome [RCV001097257]|not provided [RCV001575624]|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 Inborn genetic diseases [RCV002312028]|Kufor-Rakeb syndrome [RCV000281364]|Kufor-Rakeb syndrome [RCV001522531]|not provided [RCV000675896]|not specified [RCV000116437] Chr1:16988207 [GRCh38]
Chr1:16988207..16988208 [GRCh38]
Chr1:17314702 [GRCh37]
Chr1:17314702..17314703 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) single nucleotide variant ATP13A2-related disorder [RCV004549579]|Autosomal recessive spastic paraplegia type 78 [RCV000785011]|Inborn genetic diseases [RCV002313855]|Kufor-Rakeb syndrome [RCV000550501]|Kufor-Rakeb syndrome [RCV001097255]|Kufor-Rakeb syndrome [RCV003483485]|not provided [RCV000116438] Chr1:16988161 [GRCh38]
Chr1:17314656 [GRCh37]
Chr1:1p36.13		 benign|likely benign|conflicting interpretations of pathogenicity|drug response|uncertain significance|not provided
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV001554184]|Inborn genetic diseases [RCV002312029]|Kufor-Rakeb syndrome [RCV000360410]|Kufor-Rakeb syndrome [RCV001511875]|not provided [RCV000675895]|not specified [RCV000116439] Chr1:16987159 [GRCh38]
Chr1:16987159..16987160 [GRCh38]
Chr1:17313654 [GRCh37]
Chr1:17313654..17313655 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.3084-3C>T single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV001554183]|Inborn genetic diseases [RCV002312030]|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 Inborn genetic diseases [RCV002312031]|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 Autosomal recessive spastic paraplegia type 78 [RCV001554137]|Inborn genetic diseases [RCV002312032]|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 Inborn genetic diseases [RCV002312033]|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 Autosomal recessive spastic paraplegia type 78 [RCV001554134]|Inborn genetic diseases [RCV002312034]|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 Inborn genetic diseases [RCV002312035]|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
NC_000001.10:g.4481271_20530242del deletion Chromosome 1p36 deletion syndrome [RCV003159574] Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
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.11-29C>T single nucleotide variant not provided [RCV001564885] Chr1:17005807 [GRCh38]
Chr1:17332302 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2529+1G>A single nucleotide variant Kufor-Rakeb syndrome [RCV001331222]|Kufor-Rakeb syndrome [RCV001863238] 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]|Kufor-Rakeb syndrome [RCV002514094]|not specified [RCV004782296] Chr1:17000107 [GRCh38]
Chr1:17326602 [GRCh37]
Chr1:1p36.13		 likely pathogenic|uncertain significance
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) single nucleotide variant ATP13A2-related disorder [RCV004553047]|Inborn genetic diseases [RCV002314786]|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		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln) single nucleotide variant ATP13A2-related disorder [RCV004553046]|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 Inborn genetic diseases [RCV002429245]|Kufor-Rakeb syndrome [RCV000386189]|Kufor-Rakeb syndrome [RCV000557434]|not provided [RCV001594931] 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 ATP13A2-related disorder [RCV004549646]|Autosomal recessive spastic paraplegia type 78 [RCV001329888]|Inborn genetic diseases [RCV002317825]|Kufor-Rakeb syndrome [RCV000395373]|Kufor-Rakeb syndrome [RCV001048930]|not provided [RCV001660566] Chr1:16990276 [GRCh38]
Chr1:17316771 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) single nucleotide variant Inborn genetic diseases [RCV002321972]|Kufor-Rakeb syndrome [RCV000396839]|Kufor-Rakeb syndrome [RCV000527414] Chr1:16986847 [GRCh38]
Chr1:17313342 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=) single nucleotide variant ATP13A2-related disorder [RCV004549644]|Inborn genetic diseases [RCV002450840]|Kufor-Rakeb syndrome [RCV000403466]|Kufor-Rakeb syndrome [RCV000875471]|not provided [RCV001660565] 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]|Kufor-Rakeb syndrome [RCV002522071] 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]|Kufor-Rakeb syndrome [RCV002522072] Chr1:16997052 [GRCh38]
Chr1:17323547 [GRCh37]
Chr1:1p36.13		 likely benign|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]|Kufor-Rakeb syndrome [RCV002059355] Chr1:16986372 [GRCh38]
Chr1:17312867 [GRCh37]
Chr1:1p36.13		 benign|likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2609+10C>T single nucleotide variant ATP13A2-related disorder [RCV004549645]|Kufor-Rakeb syndrome [RCV000294679]|Kufor-Rakeb syndrome [RCV002061160] Chr1:16989681 [GRCh38]
Chr1:17316176 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2252-11A>G single nucleotide variant Kufor-Rakeb syndrome [RCV000298439]|Kufor-Rakeb syndrome [RCV003765709] Chr1:16990298 [GRCh38]
Chr1:17316793 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=) single nucleotide variant Inborn genetic diseases [RCV002314042]|Kufor-Rakeb syndrome [RCV000298225]|Kufor-Rakeb syndrome [RCV000641076]|not provided [RCV001553276] 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 Inborn genetic diseases [RCV002446539]|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]|Kufor-Rakeb syndrome [RCV003114463] Chr1:16987177 [GRCh38]
Chr1:17313672 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.396G>A (p.Ala132=) single nucleotide variant Kufor-Rakeb syndrome [RCV000275889]|Kufor-Rakeb syndrome [RCV000969807]|not provided [RCV004808669] 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 ATP13A2-related disorder [RCV004549647]|Inborn genetic diseases [RCV002317826]|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 Inborn genetic diseases [RCV002450841]|Kufor-Rakeb syndrome [RCV000291217]|Kufor-Rakeb syndrome [RCV001850498]|not provided [RCV001531612] Chr1:16990132 [GRCh38]
Chr1:17316627 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln) single nucleotide variant Inborn genetic diseases [RCV002392826]|Kufor-Rakeb syndrome [RCV000291316]|Kufor-Rakeb syndrome [RCV001243069]|not provided [RCV004791387] Chr1:16996448 [GRCh38]
Chr1:17322943 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala) single nucleotide variant Inborn genetic diseases [RCV002392825]|Kufor-Rakeb syndrome [RCV000269192]|Kufor-Rakeb syndrome [RCV002494909]|not provided [RCV001753750] Chr1:16996098 [GRCh38]
Chr1:17322593 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys) single nucleotide variant Inborn genetic diseases [RCV004965381]|Kufor-Rakeb syndrome [RCV000281563]|Kufor-Rakeb syndrome [RCV002522070] Chr1:16986225 [GRCh38]
Chr1:17312720 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=) single nucleotide variant Inborn genetic diseases [RCV002314041]|Kufor-Rakeb syndrome [RCV000377514]|Kufor-Rakeb syndrome [RCV000554838]|not provided [RCV001528806] 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 ATP13A2-related disorder [RCV004549648]|Inborn genetic diseases [RCV002314040]|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 Inborn genetic diseases [RCV002374494]|Kufor-Rakeb syndrome [RCV000368117]|Kufor-Rakeb syndrome [RCV000874914]|not provided [RCV001551772] Chr1:17000099 [GRCh38]
Chr1:17326594 [GRCh37]
Chr1:1p36.13		 benign|likely 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 Inborn genetic diseases [RCV002316056]|Kufor-Rakeb syndrome [RCV000874010]|Kufor-Rakeb syndrome [RCV001101188]|not provided [RCV001564338] Chr1:17005517 [GRCh38]
Chr1:17332012 [GRCh37]
Chr1:1p36.13		 benign|likely benign
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr) single nucleotide variant Inborn genetic diseases [RCV002316090]|Kufor-Rakeb syndrome [RCV002477656] Chr1:16996490 [GRCh38]
Chr1:17322985 [GRCh37]
Chr1:1p36.13		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1p36.13(chr1:16782351-17359598)x1 copy number loss Breast ductal adenocarcinoma [RCV000207218] Chr1:16782351..17359598 [GRCh37]
Chr1:1p36.13		 uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) single nucleotide variant Inborn genetic diseases [RCV002379159]|Kufor-Rakeb syndrome [RCV000326531]|Kufor-Rakeb syndrome [RCV000811676]|not provided [RCV004808668] Chr1:16996293 [GRCh38]
Chr1:17322788 [GRCh37]
Chr1:1p36.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.1065G>A (p.Thr355=) single nucleotide variant Kufor-Rakeb syndrome [RCV000336881]|not provided [RCV004546477] Chr1:16997150 [GRCh38]
Chr1:17323645 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=) single nucleotide variant Inborn genetic diseases [RCV002311411]|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]|not provided [RCV003409442] 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]|Kufor-Rakeb syndrome [RCV002519411] Chr1:16996484 [GRCh38]
Chr1:17322979 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln) single nucleotide variant Inborn genetic diseases [RCV002519410]|Kufor-Rakeb syndrome [RCV000342536]|Kufor-Rakeb syndrome [RCV002059357]|not provided [RCV002285304] Chr1:16990254 [GRCh38]
Chr1:17316749 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1195+9C>T single nucleotide variant ATP13A2-related disorder [RCV004549649]|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]|Kufor-Rakeb syndrome [RCV001850497] Chr1:16986490 [GRCh38]
Chr1:17312985 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=) single nucleotide variant Inborn genetic diseases [RCV002411185]|Kufor-Rakeb syndrome [RCV000353211]|Kufor-Rakeb syndrome [RCV000877932] Chr1:16992301 [GRCh38]
Chr1:17318796 [GRCh37]
Chr1:1p36.13		 benign|likely benign|uncertain significance
NM_022089.4(ATP13A2):c.*155C>T single nucleotide variant Kufor-Rakeb syndrome [RCV000285239]|Kufor-Rakeb syndrome [RCV002502163]|not provided [RCV003409440] Chr1:16986066 [GRCh38]
Chr1:17312561 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) single nucleotide variant Inborn genetic diseases [RCV002311397]|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 Inborn genetic diseases [RCV002311396]|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]|not provided [RCV004710734] 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]|not provided [RCV001683173] 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 Kufor-Rakeb syndrome [RCV002059253]|not provided [RCV000307973] Chr1:17000307 [GRCh38]
Chr1:17326802 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.841-4A>G single nucleotide variant Inborn genetic diseases [RCV002446527]|Kufor-Rakeb syndrome [RCV001459926]|not provided [RCV000298189] Chr1:17000316 [GRCh38]
Chr1:17326811 [GRCh37]
Chr1:1p36.13		 benign|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.2005+6G>A single nucleotide variant not provided [RCV001767144] Chr1:16992237 [GRCh38]
Chr1:17318732 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2797G>A (p.Val933Ile) single nucleotide variant Inborn genetic diseases [RCV002526996]|Kufor-Rakeb syndrome [RCV002526997]|not provided [RCV000487801] Chr1:16988200 [GRCh38]
Chr1:17314695 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.227G>A (p.Arg76Gln) single nucleotide variant ATP13A2-related disorder [RCV004738570]|Kufor-Rakeb syndrome [RCV003097817]|not provided [RCV002292730] Chr1:17005435 [GRCh38]
Chr1:17331930 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2563G>A (p.Ala855Thr) single nucleotide variant Inborn genetic diseases [RCV002429246]|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]|Kufor-Rakeb syndrome [RCV002059356] Chr1:16990133 [GRCh38]
Chr1:17316628 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe) single nucleotide variant Inborn genetic diseases [RCV002321971]|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 Inborn genetic diseases [RCV004021378]|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 Kufor-Rakeb syndrome [RCV002532645]|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]|Kufor-Rakeb syndrome [RCV002069664] Chr1:16989977 [GRCh38]
Chr1:17316472 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV000641069]|not provided [RCV001569523] Chr1:17000495 [GRCh38]
Chr1:17326990 [GRCh37]
Chr1:1p36.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met) single nucleotide variant Inborn genetic diseases [RCV002315965]|Kufor-Rakeb syndrome [RCV000641064] Chr1:16987187 [GRCh38]
Chr1:17313682 [GRCh37]
Chr1:1p36.13		 benign|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 Inborn genetic diseases [RCV002314991]|Kufor-Rakeb syndrome [RCV001085302]|not provided [RCV000710714]|not specified [RCV001727743] Chr1:17004716 [GRCh38]
Chr1:17331211 [GRCh37]
Chr1:1p36.13		 benign|likely 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 ATP13A2-related disorder [RCV004553300]|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 Autosomal recessive spastic paraplegia type 78 [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 Autosomal recessive spastic paraplegia type 78 [RCV000415515] Chr1:16993828 [GRCh38]
Chr1:17320323 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter) single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV000415542]|Kufor-Rakeb syndrome [RCV002502449]|Kufor-Rakeb syndrome [RCV004767250] Chr1:16986346 [GRCh38]
Chr1:17312841 [GRCh37]
Chr1:1p36.13		 pathogenic|likely pathogenic
NM_022089.4(ATP13A2):c.364C>T (p.Gln122Ter) single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV000415546]|Kufor-Rakeb syndrome [RCV004767251] Chr1:17004805 [GRCh38]
Chr1:17331300 [GRCh37]
Chr1:1p36.13		 pathogenic|likely pathogenic
NM_022089.4(ATP13A2):c.1345C>T (p.Arg449Ter) single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV000415578]|Kufor-Rakeb syndrome [RCV004767252] Chr1:16996262 [GRCh38]
Chr1:17322757 [GRCh37]
Chr1:1p36.13		 pathogenic|likely pathogenic
NM_022089.4(ATP13A2):c.1080G>C (p.Gly360=) single nucleotide variant Inborn genetic diseases [RCV002422630]|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 ATP13A2-related disorder [RCV004547959]|Inborn genetic diseases [RCV004965728]|Kufor-Rakeb syndrome [RCV000767898]|not provided [RCV002061035] Chr1:17000005 [GRCh38]
Chr1:17326500 [GRCh37]
Chr1:1p36.13		 likely benign|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 Kufor-Rakeb syndrome [RCV001865371]|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 Inborn genetic diseases [RCV002418306]|Kufor-Rakeb syndrome [RCV002059821]|not provided [RCV000431349] Chr1:17005465 [GRCh38]
Chr1:17331960 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1157A>G (p.Tyr386Cys) single nucleotide variant ATP13A2-related disorder [RCV004551482]|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 provided [RCV004691241]|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 Inborn genetic diseases [RCV002440593]|Kufor-Rakeb syndrome [RCV000768154]|not provided [RCV002267022] Chr1:16988338 [GRCh38]
Chr1:17314833 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) single nucleotide variant Inborn genetic diseases [RCV002316551]|Kufor-Rakeb syndrome [RCV001088641]|not provided [RCV000710709]|not specified [RCV003994006] 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 Inborn genetic diseases [RCV002317339]|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 Inborn genetic diseases [RCV002314992]|Kufor-Rakeb syndrome [RCV000540834] Chr1:17000463 [GRCh38]
Chr1:17326958 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) deletion Autosomal recessive spastic paraplegia type 78 [RCV002509424]|Inborn genetic diseases [RCV002528398]|Kufor-Rakeb syndrome [RCV000541447]|Kufor-Rakeb syndrome [RCV001201356]|Neurodegeneration with brain iron accumulation [RCV001844194]|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]|Kufor-Rakeb syndrome [RCV003767821] 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 Inborn genetic diseases [RCV004965624]|Kufor-Rakeb syndrome [RCV000641063]|not provided [RCV001766378] Chr1:16990135 [GRCh38]
Chr1:17316630 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) single nucleotide variant Inborn genetic diseases [RCV002311862]|Kufor-Rakeb syndrome [RCV001089429]|not provided [RCV000710710] Chr1:16990172 [GRCh38]
Chr1:17316667 [GRCh37]
Chr1:1p36.13		 benign|likely benign
NM_022089.4(ATP13A2):c.2638G>A (p.Ala880Thr) single nucleotide variant not provided [RCV003312116] Chr1:16988446 [GRCh38]
Chr1:17314941 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys) single nucleotide variant Inborn genetic diseases [RCV002527395]|Kufor-Rakeb syndrome [RCV000815305]|not provided [RCV000512743] Chr1:16986292 [GRCh38]
Chr1:17312787 [GRCh37]
Chr1:1p36.13		 likely benign|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.2610-8C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003791089] Chr1:16988482 [GRCh38]
Chr1:17314977 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2260C>G (p.Leu754Val) single nucleotide variant Inborn genetic diseases [RCV002442419]|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 Inborn genetic diseases [RCV002397337]|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 Inborn genetic diseases [RCV002317906]|Kufor-Rakeb syndrome [RCV000702718]|Neurodegeneration with brain iron accumulation [RCV001269095]|not provided [RCV000658500] Chr1:17004690 [GRCh38]
Chr1:17331185 [GRCh37]
Chr1:1p36.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_022089.4(ATP13A2):c.2251+6A>C single nucleotide variant Kufor-Rakeb syndrome [RCV001861700]|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 Inborn genetic diseases [RCV004026141]|Kufor-Rakeb syndrome [RCV000805352]|not provided [RCV000675886]|not specified [RCV004997136] Chr1:16986291 [GRCh38]
Chr1:17312786 [GRCh37]
Chr1:1p36.13		 likely benign|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 Kufor-Rakeb syndrome [RCV002060837]|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 ATP13A2-related disorder [RCV004549837]|Kufor-Rakeb syndrome [RCV000768153]|Kufor-Rakeb syndrome [RCV001098910]|not provided [RCV001556844]|not specified [RCV003396334] Chr1:16986454 [GRCh38]
Chr1:17312949 [GRCh37]
Chr1:1p36.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.1819C>T (p.Leu607Phe) single nucleotide variant Inborn genetic diseases [RCV002316155] 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|likely benign
NM_022089.4(ATP13A2):c.1004C>T (p.Ala335Val) single nucleotide variant Inborn genetic diseases [RCV002312279]|Kufor-Rakeb syndrome [RCV002532986] 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 ATP13A2-related disorder [RCV004547892]|Inborn genetic diseases [RCV002312397]|Kufor-Rakeb syndrome [RCV000878446]|not provided [RCV002279497] Chr1:16986235 [GRCh38]
Chr1:17312730 [GRCh37]
Chr1:1p36.13		 benign|likely benign|uncertain significance
NM_022089.4(ATP13A2):c.3236-30C>T single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV001554136]|Kufor-Rakeb syndrome [RCV001554135]|not provided [RCV000675888]|not specified [RCV004594091] Chr1:16986662 [GRCh38]
Chr1:17313157 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.3235+13G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002066988]|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|likely 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 Inborn genetic diseases [RCV004026267]|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 Kufor-Rakeb syndrome [RCV002532904]|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 Inborn genetic diseases [RCV002314602] Chr1:17000251 [GRCh38]
Chr1:17326746 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.878T>C (p.Met293Thr) single nucleotide variant Inborn genetic diseases [RCV003258919]|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 Inborn genetic diseases [RCV002533645]|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 Inborn genetic diseases [RCV004026756]|Kufor-Rakeb syndrome [RCV000707646] Chr1:16986539 [GRCh38]
Chr1:17313034 [GRCh37]
Chr1:1p36.13		 likely benign|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 ATP13A2-related disorder [RCV004547857]|Inborn genetic diseases [RCV002325371]|Kufor-Rakeb syndrome [RCV000689446]|Kufor-Rakeb syndrome [RCV001098912]|not provided [RCV001560412] Chr1:16986554 [GRCh38]
Chr1:17313049 [GRCh37]
Chr1:1p36.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg) single nucleotide variant Inborn genetic diseases [RCV002544846]|Kufor-Rakeb syndrome [RCV000689547]|not provided [RCV001288806] Chr1:17004697 [GRCh38]
Chr1:17331192 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) single nucleotide variant Inborn genetic diseases [RCV002440425]|Kufor-Rakeb syndrome [RCV000686544]|not provided [RCV001766465] 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 ATP13A2-related disorder [RCV004547882]|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 Inborn genetic diseases [RCV002442545]|Kufor-Rakeb syndrome [RCV001861952]|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 Inborn genetic diseases [RCV002388353]|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 Autosomal recessive spastic paraplegia type 78 [RCV001331224]|Kufor-Rakeb syndrome [RCV000705994]|not provided [RCV004723118] Chr1:17002090 [GRCh38]
Chr1:17328585 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met) single nucleotide variant Inborn genetic diseases [RCV002317939]|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 Inborn genetic diseases [RCV002424735]|Kufor-Rakeb syndrome [RCV001861951]|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 Inborn genetic diseases [RCV002315283]|Kufor-Rakeb syndrome [RCV002067035] Chr1:17002091 [GRCh38]
Chr1:17328586 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.761A>G (p.Asp254Gly) single nucleotide variant Inborn genetic diseases [RCV002313504] Chr1:17000479 [GRCh38]
Chr1:17326974 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3145G>A (p.Val1049Met) single nucleotide variant Inborn genetic diseases [RCV002313595]|Kufor-Rakeb syndrome [RCV002534560] Chr1:16986895 [GRCh38]
Chr1:17313390 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1667C>T (p.Ala556Val) single nucleotide variant Inborn genetic diseases [RCV002313548]|Kufor-Rakeb syndrome [RCV001862040] Chr1:16993711 [GRCh38]
Chr1:17320206 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=) single nucleotide variant Inborn genetic diseases [RCV002313470]|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 Inborn genetic diseases [RCV002313495] Chr1:17000453 [GRCh38]
Chr1:17326948 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1399G>A (p.Val467Met) single nucleotide variant Inborn genetic diseases [RCV002315380]|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 Inborn genetic diseases [RCV002318664]|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 Inborn genetic diseases [RCV002318056]|Kufor-Rakeb syndrome [RCV002533027] Chr1:17000454 [GRCh38]
Chr1:17326949 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2271G>A (p.Ala757=) single nucleotide variant Inborn genetic diseases [RCV002312478] Chr1:16990268 [GRCh38]
Chr1:17316763 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3257C>T (p.Ala1086Val) single nucleotide variant Inborn genetic diseases [RCV002318164]|Kufor-Rakeb syndrome [RCV001100727]|Kufor-Rakeb syndrome [RCV001205841]|not provided [RCV004768611] Chr1:16986611 [GRCh38]
Chr1:17313106 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=) single nucleotide variant ATP13A2-related disorder [RCV004547912]|Inborn genetic diseases [RCV002318300]|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 Inborn genetic diseases [RCV002318245] Chr1:17000047 [GRCh38]
Chr1:17326542 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=) single nucleotide variant Inborn genetic diseases [RCV002318278]|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 Inborn genetic diseases [RCV002318288]|Kufor-Rakeb syndrome [RCV002060951] Chr1:16993716 [GRCh38]
Chr1:17320211 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.809C>G (p.Ser270Cys) single nucleotide variant Inborn genetic diseases [RCV002317527] Chr1:17000431 [GRCh38]
Chr1:17326926 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2655C>T (p.Ala885=) single nucleotide variant Inborn genetic diseases [RCV002318142]|Kufor-Rakeb syndrome [RCV002060945] Chr1:16988429 [GRCh38]
Chr1:17314924 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1169A>C (p.His390Pro) single nucleotide variant Inborn genetic diseases [RCV002318143]|Kufor-Rakeb syndrome [RCV002485813] Chr1:16997046 [GRCh38]
Chr1:17323541 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1536C>T (p.Phe512=) single nucleotide variant Inborn genetic diseases [RCV002318240]|Kufor-Rakeb syndrome [RCV000874591]|Kufor-Rakeb syndrome [RCV001097339]|not provided [RCV003222121] Chr1:16995982 [GRCh38]
Chr1:17322477 [GRCh37]
Chr1:1p36.13		 benign|likely benign
NM_022089.4(ATP13A2):c.2039A>G (p.Tyr680Cys) single nucleotide variant Inborn genetic diseases [RCV002318260] Chr1:16992096 [GRCh38]
Chr1:17318591 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr) single nucleotide variant Inborn genetic diseases [RCV002318334]|Kufor-Rakeb syndrome [RCV001071630]|not provided [RCV001759440] Chr1:16992115 [GRCh38]
Chr1:17318610 [GRCh37]
Chr1:1p36.13		 likely benign|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
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter) single nucleotide variant Kufor-Rakeb syndrome [RCV003771646]|not provided [RCV001531613] Chr1:16992019 [GRCh38]
Chr1:17318514 [GRCh37]
Chr1:1p36.13		 pathogenic|likely 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 ATP13A2-related disorder [RCV004738040]|Inborn genetic diseases [RCV002354681]|Kufor-Rakeb syndrome [RCV001415247] 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] 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 Kufor-Rakeb syndrome [RCV003769278] Chr1:16987129 [GRCh38]
Chr1:17313624 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.24C>T (p.Leu8=) single nucleotide variant Kufor-Rakeb syndrome [RCV002065934] Chr1:17005765 [GRCh38]
Chr1:17332260 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2097del (p.Ser700fs) deletion Autosomal recessive spastic paraplegia type 78 [RCV004556871]|Neurodegeneration with brain iron accumulation [RCV004701061] Chr1:16992038 [GRCh38]
Chr1:17318533 [GRCh37]
Chr1:1p36.13		 pathogenic|likely pathogenic
NM_022089.4(ATP13A2):c.1040-308A>G single nucleotide variant not provided [RCV001612017] Chr1:16997483 [GRCh38]
Chr1:17323978 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.2540_2550del (p.Gln847fs) deletion Kufor-Rakeb syndrome [RCV003314298] Chr1:16989750..16989760 [GRCh38]
Chr1:17316245..17316255 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.1195+199C>G single nucleotide variant not provided [RCV001577039] Chr1:16996821 [GRCh38]
Chr1:17323316 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.907+29G>T single nucleotide variant not provided [RCV001584602] Chr1:17000217 [GRCh38]
Chr1:17326712 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2412+45C>A single nucleotide variant not provided [RCV001551340] Chr1:16990082 [GRCh38]
Chr1:17316577 [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.1750-68T>C single nucleotide variant not provided [RCV001577917] Chr1:16992649 [GRCh38]
Chr1:17319144 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2609+118A>G single nucleotide variant not provided [RCV001552008] Chr1:16989573 [GRCh38]
Chr1:17316068 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2859+33G>A single nucleotide variant not provided [RCV001574959] Chr1:16988105 [GRCh38]
Chr1:17314600 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2160G>T (p.Gly720=) single nucleotide variant ATP13A2-related disorder [RCV004549985]|Kufor-Rakeb syndrome [RCV001411679] 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 Inborn genetic diseases [RCV002416218]|Kufor-Rakeb syndrome [RCV001099190]|Kufor-Rakeb syndrome [RCV001430929]|not specified [RCV002265912] Chr1:16997136 [GRCh38]
Chr1:17323631 [GRCh37]
Chr1:1p36.13		 benign|likely benign|uncertain significance
NM_022089.4(ATP13A2):c.3327G>A (p.Arg1109=) single nucleotide variant Inborn genetic diseases [RCV002320049]|Kufor-Rakeb syndrome [RCV002064840] 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 Inborn genetic diseases [RCV002458374]|Kufor-Rakeb syndrome [RCV000768155] Chr1:16988444 [GRCh38]
Chr1:17314939 [GRCh37]
Chr1:1p36.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.1377C>T (p.Ile459=) single nucleotide variant Kufor-Rakeb syndrome [RCV001445347] 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 Inborn genetic diseases [RCV004962965]|Kufor-Rakeb syndrome [RCV001438075] 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]|not specified [RCV003235438] Chr1:16986835 [GRCh38]
Chr1:17313330 [GRCh37]
Chr1:1p36.13		 benign|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 Inborn genetic diseases [RCV002320045]|Kufor-Rakeb syndrome [RCV000875290]|Kufor-Rakeb syndrome [RCV001100993]|not provided [RCV001576065] Chr1:16986953 [GRCh38]
Chr1:17313448 [GRCh37]
Chr1:1p36.13		 benign|likely benign
NM_022089.4(ATP13A2):c.2682G>A (p.Ser894=) single nucleotide variant Kufor-Rakeb syndrome [RCV001500990] Chr1:16988402 [GRCh38]
Chr1:17314897 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2628C>T (p.Cys876=) single nucleotide variant Kufor-Rakeb syndrome [RCV002066390] Chr1:16988456 [GRCh38]
Chr1:17314951 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.106-5C>T single nucleotide variant Inborn genetic diseases [RCV002409114]|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] 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] 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] 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] 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] Chr1:17005551 [GRCh38]
Chr1:17332046 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln) single nucleotide variant Inborn genetic diseases [RCV002409267]|Kufor-Rakeb syndrome [RCV002066305] Chr1:16993690 [GRCh38]
Chr1:17320185 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.3384C>T (p.Phe1128=) single nucleotide variant Kufor-Rakeb syndrome [RCV001407329] 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] 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]|not provided [RCV003442097] Chr1:16987178 [GRCh38]
Chr1:17313673 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met) single nucleotide variant Inborn genetic diseases [RCV002440645]|Kufor-Rakeb syndrome [RCV000796885] Chr1:16987134 [GRCh38]
Chr1:17313629 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met) single nucleotide variant Inborn genetic diseases [RCV002458463]|Kufor-Rakeb syndrome [RCV000801260]|Kufor-Rakeb syndrome [RCV001097440] Chr1:17005754 [GRCh38]
Chr1:17332249 [GRCh37]
Chr1:1p36.13		 likely benign|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]|not provided [RCV001759525] Chr1:16992372 [GRCh38]
Chr1:17318867 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro) single nucleotide variant ATP13A2-related disorder [RCV004553532]|Inborn genetic diseases [RCV002416271]|Kufor-Rakeb syndrome [RCV001392172]|not provided [RCV000991571] Chr1:17011732 [GRCh38]
Chr1:17338227 [GRCh37]
Chr1:1p36.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
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 Inborn genetic diseases [RCV002440664]|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 Inborn genetic diseases [RCV002535966]|Kufor-Rakeb syndrome [RCV000822972]|not provided [RCV001766749] 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]|not provided [RCV003222133] 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 ATP13A2-related disorder [RCV004547981]|Kufor-Rakeb syndrome [RCV001097165]|not provided [RCV001569346] Chr1:16986081 [GRCh38]
Chr1:17312576 [GRCh37]
Chr1:1p36.13		 benign|likely benign
NM_022089.4(ATP13A2):c.*9C>A single nucleotide variant Kufor-Rakeb syndrome [RCV001097167]|not provided [RCV001664682] 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 Kufor-Rakeb syndrome [RCV002066386] Chr1:17005750 [GRCh38]
Chr1:17332245 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=) single nucleotide variant Inborn genetic diseases [RCV002346025]|Kufor-Rakeb syndrome [RCV001097439]|Kufor-Rakeb syndrome [RCV002064799] 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 Inborn genetic diseases [RCV002534662]|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]|not provided [RCV004691309] 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 Inborn genetic diseases [RCV004030161]|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]|not provided [RCV004597969] Chr1:16987087 [GRCh38]
Chr1:17313582 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1205C>T (p.Thr402Met) single nucleotide variant Kufor-Rakeb syndrome [RCV001644884]|Kufor-Rakeb syndrome [RCV005012425]|not provided [RCV000993929] Chr1:16996487 [GRCh38]
Chr1:17322982 [GRCh37]
Chr1:1p36.13		 likely pathogenic|uncertain significance
NM_022089.4(ATP13A2):c.3458G>A (p.Arg1153Gln) single nucleotide variant ATP13A2-related disorder [RCV001249719]|Kufor-Rakeb syndrome [RCV001298880] Chr1:16986306 [GRCh38]
Chr1:17312801 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.*207C>T single nucleotide variant not specified [RCV003317943] Chr1:16986014 [GRCh38]
Chr1:17312509 [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]|Kufor-Rakeb syndrome [RCV002067772]|not specified [RCV003994211] Chr1:17000548 [GRCh38]
Chr1:17327043 [GRCh37]
Chr1:1p36.13		 benign|likely benign
NM_022089.4(ATP13A2):c.-171G>C single nucleotide variant Kufor-Rakeb syndrome [RCV001097529]|Kufor-Rakeb syndrome [RCV002505675] 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]|not provided [RCV004727004] 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.1846-28C>T single nucleotide variant not provided [RCV001548135] Chr1:16992430 [GRCh38]
Chr1:17318925 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1195+82G>A single nucleotide variant not provided [RCV001637638] Chr1:16996938 [GRCh38]
Chr1:17323433 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.347+73C>G single nucleotide variant not provided [RCV001680929] Chr1:17004941 [GRCh38]
Chr1:17331436 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.1306+42del deletion not provided [RCV001659129] Chr1:16996344 [GRCh38]
Chr1:17322839 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.2610-120G>A single nucleotide variant not provided [RCV001591979] Chr1:16988594 [GRCh38]
Chr1:17315089 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1750-211G>A single nucleotide variant not provided [RCV001637578] Chr1:16992792 [GRCh38]
Chr1:17319287 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.196C>T (p.Arg66Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV001866189]|not provided [RCV001586697] Chr1:17005466 [GRCh38]
Chr1:17331961 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1 copy number loss 1p36.1 deletion syndrome [RCV001614471] Chr1:16785250..23491592 [GRCh37]
Chr1:1p36.13-36.12		 pathogenic
NM_022089.4(ATP13A2):c.907+50G>A single nucleotide variant not provided [RCV001557379] Chr1:17000196 [GRCh38]
Chr1:17326691 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2860-222C>T single nucleotide variant not provided [RCV001577786] Chr1:16987491 [GRCh38]
Chr1:17313986 [GRCh37]
Chr1:1p36.13		 likely benign
NC_000001.11:g.16985747C>T single nucleotide variant not provided [RCV001578136] Chr1:16985747 [GRCh38]
Chr1:17312242 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1766C>T (p.Pro589Leu) single nucleotide variant Inborn genetic diseases [RCV002405231]|Kufor-Rakeb syndrome [RCV001882618]|not provided [RCV001546605] Chr1:16992565 [GRCh38]
Chr1:17319060 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2610-154T>C single nucleotide variant not provided [RCV001571002] Chr1:16988628 [GRCh38]
Chr1:17315123 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.705+214T>C single nucleotide variant not provided [RCV001552868] Chr1:17001820 [GRCh38]
Chr1:17328315 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3235+86C>T single nucleotide variant not provided [RCV001650818] Chr1:16986719 [GRCh38]
Chr1:17313214 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.2634C>T (p.Asp878=) single nucleotide variant Inborn genetic diseases [RCV002427249]|Kufor-Rakeb syndrome [RCV002540128]|not provided [RCV004711379] Chr1:16988450 [GRCh38]
Chr1:17314945 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.435G>A (p.Thr145=) single nucleotide variant Inborn genetic diseases [RCV002327186]|Kufor-Rakeb syndrome [RCV001439439] 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 Kufor-Rakeb syndrome [RCV001858599] 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 Inborn genetic diseases [RCV002416096]|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 Kufor-Rakeb syndrome [RCV002064857]|not provided [RCV003411865] 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 Inborn genetic diseases [RCV003243477]|Kufor-Rakeb syndrome [RCV001101079]|Kufor-Rakeb syndrome [RCV001856372]|not provided [RCV001509024] Chr1:16992378 [GRCh38]
Chr1:17318873 [GRCh37]
Chr1:1p36.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.840G>T (p.Lys280Asn) single nucleotide variant Inborn genetic diseases [RCV002445382]|Kufor-Rakeb syndrome [RCV001101184]|Kufor-Rakeb syndrome [RCV002554972] 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 disorder [RCV001249720]|Inborn genetic diseases [RCV004035293]|Kufor-Rakeb syndrome [RCV002570403] Chr1:16989707 [GRCh38]
Chr1:17316202 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val) single nucleotide variant Inborn genetic diseases [RCV002320317]|Kufor-Rakeb syndrome [RCV001062022]|not provided [RCV004792700] Chr1:17004762 [GRCh38]
Chr1:17331257 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His) single nucleotide variant Inborn genetic diseases [RCV004032046]|Kufor-Rakeb syndrome [RCV001099008]|Kufor-Rakeb syndrome [RCV001856341]|not provided [RCV004792720] Chr1:16989742 [GRCh38]
Chr1:17316237 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1658G>A (p.Arg553Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV001203112]|not provided [RCV001773453] 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]|not provided [RCV001772318] 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.2610-273A>G single nucleotide variant not provided [RCV001541004] Chr1:16988747 [GRCh38]
Chr1:17315242 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.2762+31C>T single nucleotide variant not provided [RCV001562335] Chr1:16988291 [GRCh38]
Chr1:17314786 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1196-79C>T single nucleotide variant not provided [RCV001562416] Chr1:16996575 [GRCh38]
Chr1:17323070 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.255C>T (p.Ala85=) single nucleotide variant Kufor-Rakeb syndrome [RCV002072108]|not provided [RCV001558442] Chr1:17005407 [GRCh38]
Chr1:17331902 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.348-91C>A single nucleotide variant not provided [RCV001558757] Chr1:17004912 [GRCh38]
Chr1:17331407 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.514C>T (p.Arg172Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV003234629] Chr1:17004375 [GRCh38]
Chr1:17330870 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1040-242C>G single nucleotide variant not provided [RCV001559498] Chr1:16997417 [GRCh38]
Chr1:17323912 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1195+143dup duplication not provided [RCV001649209] Chr1:16996871..16996872 [GRCh38]
Chr1:17323366..17323367 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.2251+62G>A single nucleotide variant not provided [RCV001560117] Chr1:16991672 [GRCh38]
Chr1:17318167 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2860-309T>C single nucleotide variant not provided [RCV001693519] Chr1:16987578 [GRCh38]
Chr1:17314073 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.2126+56C>T single nucleotide variant not provided [RCV001576383] Chr1:16991953 [GRCh38]
Chr1:17318448 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.10+116dup duplication not provided [RCV001561233] Chr1:17011612..17011613 [GRCh38]
Chr1:17338107..17338108 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2859+250C>A single nucleotide variant not provided [RCV001550605] Chr1:16987888 [GRCh38]
Chr1:17314383 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1195+247C>T single nucleotide variant not provided [RCV001659356] Chr1:16996773 [GRCh38]
Chr1:17323268 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.10+276G>A single nucleotide variant not provided [RCV001556330] Chr1:17011453 [GRCh38]
Chr1:17337948 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.347+31G>A single nucleotide variant not provided [RCV001589453] Chr1:17004983 [GRCh38]
Chr1:17331478 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.106-45C>T single nucleotide variant not provided [RCV001593324] Chr1:17005601 [GRCh38]
Chr1:17332096 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.907+36T>G single nucleotide variant not provided [RCV001621832] Chr1:17000210 [GRCh38]
Chr1:17326705 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.705+128C>T single nucleotide variant not provided [RCV001581021] Chr1:17001906 [GRCh38]
Chr1:17328401 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2251+164A>G single nucleotide variant not provided [RCV001693601] Chr1:16991570 [GRCh38]
Chr1:17318065 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.289-109T>C single nucleotide variant not provided [RCV001686016]|not specified [RCV004594500] Chr1:17005181 [GRCh38]
Chr1:17331676 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.2251+45C>T single nucleotide variant not provided [RCV001567991] Chr1:16991689 [GRCh38]
Chr1:17318184 [GRCh37]
Chr1:1p36.13		 likely benign
NC_000001.11:g.17011965G>A single nucleotide variant not provided [RCV001657162] Chr1:17011965 [GRCh38]
Chr1:17338460 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.3538A>T (p.Arg1180Trp) single nucleotide variant Inborn genetic diseases [RCV002451198]|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 Inborn genetic diseases [RCV002393239]|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]|Kufor-Rakeb syndrome [RCV002069666] Chr1:16996314 [GRCh38]
Chr1:17322809 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.-99G>C single nucleotide variant Kufor-Rakeb syndrome [RCV001097441]|Kufor-Rakeb syndrome [RCV002480464] 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 Inborn genetic diseases [RCV004032075]|Kufor-Rakeb syndrome [RCV001100992]|Kufor-Rakeb syndrome [RCV001856369] 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]|Kufor-Rakeb syndrome [RCV002482180] 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 ATP13A2-related disorder [RCV004738163]|Kufor-Rakeb syndrome [RCV001100902]|not provided [RCV004546601] Chr1:16985990 [GRCh38]
Chr1:17312485 [GRCh37]
Chr1:1p36.13		 benign|likely benign
NM_022089.4(ATP13A2):c.595C>T (p.Arg199Cys) single nucleotide variant Inborn genetic diseases [RCV002355031]|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 Inborn genetic diseases [RCV002339294]|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		 conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.833C>A (p.Thr278Asn) single nucleotide variant not provided [RCV001547649] Chr1:17000407 [GRCh38]
Chr1:17326902 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu) single nucleotide variant Inborn genetic diseases [RCV004031008]|Kufor-Rakeb syndrome [RCV001036883] Chr1:17004813 [GRCh38]
Chr1:17331308 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2610-251A>G single nucleotide variant not provided [RCV001574609] Chr1:16988725 [GRCh38]
Chr1:17315220 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.394G>A (p.Ala132Thr) single nucleotide variant Inborn genetic diseases [RCV002372795]|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 Kufor-Rakeb syndrome [RCV001856270]|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 Kufor-Rakeb syndrome [RCV001873458]|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 Inborn genetic diseases [RCV002436703]|Kufor-Rakeb syndrome [RCV001100994]|Kufor-Rakeb syndrome [RCV001856370] Chr1:16987202 [GRCh38]
Chr1:17313697 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1880G>A (p.Arg627His) single nucleotide variant Inborn genetic diseases [RCV004033585]|Kufor-Rakeb syndrome [RCV001203766]|not provided [RCV001812247] Chr1:16992368 [GRCh38]
Chr1:17318863 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys) single nucleotide variant Inborn genetic diseases [RCV003166546]|Kufor-Rakeb syndrome [RCV001246434] Chr1:16986325 [GRCh38]
Chr1:17312820 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.157G>A (p.Val53Met) single nucleotide variant Inborn genetic diseases [RCV002402701]|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]|not provided [RCV003145490]|not specified [RCV002241805] 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]|Kufor-Rakeb syndrome [RCV002067769] Chr1:16991795 [GRCh38]
Chr1:17318290 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.518A>G (p.Tyr173Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV001856271]|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 Inborn genetic diseases [RCV002431940]|Kufor-Rakeb syndrome [RCV001331223]|Kufor-Rakeb syndrome [RCV002546454]|not provided [RCV001531614] Chr1:17005397 [GRCh38]
Chr1:17331892 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1306+3G>A single nucleotide variant not specified [RCV004783410] Chr1:16996383 [GRCh38]
Chr1:17322878 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2479G>A (p.Gly827Arg) single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV004816887]|Kufor-Rakeb syndrome [RCV002001711] Chr1:16989937 [GRCh38]
Chr1:17316432 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter) single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV001262240]|Kufor-Rakeb syndrome [RCV002480876] Chr1:16993721 [GRCh38]
Chr1:17320216 [GRCh37]
Chr1:1p36.13		 pathogenic|likely pathogenic
NM_022089.4(ATP13A2):c.1544C>T (p.Thr515Met) single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV001823189]|Inborn genetic diseases [RCV001265807]|Kufor-Rakeb syndrome [RCV001880099]|not provided [RCV003222289] 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]|Kufor-Rakeb syndrome [RCV002546612] 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 Inborn genetic diseases [RCV002413852]|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 Autosomal recessive spastic paraplegia type 78 [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 Inborn genetic diseases [RCV003284271]|Kufor-Rakeb syndrome [RCV001365128] Chr1:16992323 [GRCh38]
Chr1:17318818 [GRCh37]
Chr1:1p36.13		 likely benign|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 Autosomal recessive spastic paraplegia type 78 [RCV001732144]|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 Inborn genetic diseases [RCV002438849]|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 Inborn genetic diseases [RCV002439083]|Kufor-Rakeb syndrome [RCV001458202]|not specified [RCV004998910] Chr1:16988342 [GRCh38]
Chr1:17314837 [GRCh37]
Chr1:1p36.13		 benign|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 ATP13A2-related disorder [RCV004550200]|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 Inborn genetic diseases [RCV002384638]|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.3235+44_3235+55del deletion not provided [RCV001579922]|not specified [RCV001528840] Chr1:16986750..16986761 [GRCh38]
Chr1:17313245..17313256 [GRCh37]
Chr1:1p36.13		 benign|likely benign
NM_022089.4(ATP13A2):c.699G>T (p.Val233=) single nucleotide variant Kufor-Rakeb syndrome [RCV001443505]|not provided [RCV004711631] 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 Inborn genetic diseases [RCV002456725]|Kufor-Rakeb syndrome [RCV001437657] Chr1:16988399 [GRCh38]
Chr1:17314894 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1195+66A>G single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV001554188]|Kufor-Rakeb syndrome [RCV001554187]|not provided [RCV001619980]|not specified [RCV004598033] Chr1:16996954 [GRCh38]
Chr1:17323449 [GRCh37]
Chr1:1p36.13		 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.1196-207T>A single nucleotide variant not provided [RCV001680491] Chr1:16996703 [GRCh38]
Chr1:17323198 [GRCh37]
Chr1:1p36.13		 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.1040-249A>C single nucleotide variant not provided [RCV001724462] Chr1:16997424 [GRCh38]
Chr1:17323919 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp) single nucleotide variant Inborn genetic diseases [RCV002384858]|Kufor-Rakeb syndrome [RCV001859353]|not provided [RCV001509025]|not specified [RCV001821804] Chr1:16996449 [GRCh38]
Chr1:17322944 [GRCh37]
Chr1:1p36.13		 likely benign|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 Inborn genetic diseases [RCV002359139]|Kufor-Rakeb syndrome [RCV002564270]|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 Inborn genetic diseases [RCV002560369]|Kufor-Rakeb syndrome [RCV001461696] Chr1:16986263 [GRCh38]
Chr1:17312758 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
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 Inborn genetic diseases [RCV002322446]|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
NM_022089.4(ATP13A2):c.*109C>T single nucleotide variant See cases [RCV002252443] Chr1:16986112 [GRCh38]
Chr1:17312607 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.*138C>T single nucleotide variant Inborn genetic diseases [RCV002901073] Chr1:16986083 [GRCh38]
Chr1:17312578 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2722T>A (p.Ser908Thr) single nucleotide variant not provided [RCV001726739] Chr1:16988362 [GRCh38]
Chr1:17314857 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2939G>A (p.Arg980His) single nucleotide variant Kufor-Rakeb syndrome [RCV002538746]|not provided [RCV001756670] Chr1:16987190 [GRCh38]
Chr1:17313685 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.112A>G (p.Ser38Gly) single nucleotide variant Kufor-Rakeb syndrome [RCV002540278]|not provided [RCV001770694] Chr1:17005550 [GRCh38]
Chr1:17332045 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1109G>A (p.Arg370Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV002538801]|not provided [RCV001770881] Chr1:16997106 [GRCh38]
Chr1:17323601 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1239C>A (p.His413Gln) single nucleotide variant not provided [RCV001773228] Chr1:16996453 [GRCh38]
Chr1:17322948 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1317C>T (p.Gly439=) single nucleotide variant Kufor-Rakeb syndrome [RCV002543997]|not provided [RCV001768938] Chr1:16996290 [GRCh38]
Chr1:17322785 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1436_1439del (p.Val479fs) microsatellite not provided [RCV001780658] Chr1:16996079..16996082 [GRCh38]
Chr1:17322574..17322577 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.880C>T (p.Arg294Trp) single nucleotide variant Kufor-Rakeb syndrome [RCV001885038]|not provided [RCV001763729] Chr1:17000273 [GRCh38]
Chr1:17326768 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1378C>T (p.Arg460Trp) single nucleotide variant not specified [RCV004799996] Chr1:16996140 [GRCh38]
Chr1:17322635 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2395G>T (p.Ala799Ser) single nucleotide variant not provided [RCV004798574] Chr1:16990144 [GRCh38]
Chr1:17316639 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.688C>T (p.Gln230Ter) single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV001808130] Chr1:17002051 [GRCh38]
Chr1:17328546 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.1837C>T (p.Gln613Ter) single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV001809240] Chr1:16992494 [GRCh38]
Chr1:17318989 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.3472C>A (p.Arg1158Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV001915003] Chr1:16986292 [GRCh38]
Chr1:17312787 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1907G>A (p.Arg636His) single nucleotide variant Kufor-Rakeb syndrome [RCV001909976] Chr1:16992341 [GRCh38]
Chr1:17318836 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2905G>C (p.Val969Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV001929409] Chr1:16987224 [GRCh38]
Chr1:17313719 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1633C>T (p.Arg545Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV001971685] Chr1:16993745 [GRCh38]
Chr1:17320240 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1787G>C (p.Gly596Ala) single nucleotide variant Kufor-Rakeb syndrome [RCV001984995] Chr1:16992544 [GRCh38]
Chr1:17319039 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2339A>C (p.His780Pro) single nucleotide variant Kufor-Rakeb syndrome [RCV001948978] Chr1:16990200 [GRCh38]
Chr1:17316695 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His) single nucleotide variant Kufor-Rakeb syndrome [RCV001928113] Chr1:16986321 [GRCh38]
Chr1:17312816 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2970_2971delinsAT (p.Arg991Trp) indel Kufor-Rakeb syndrome [RCV001927660] Chr1:16987158..16987159 [GRCh38]
Chr1:17313653..17313654 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2483C>T (p.Pro828Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV001950437] Chr1:16989933 [GRCh38]
Chr1:17316428 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1360C>G (p.Leu454Val) single nucleotide variant Kufor-Rakeb syndrome [RCV001971333] Chr1:16996158 [GRCh38]
Chr1:17322653 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2860-7G>A single nucleotide variant Kufor-Rakeb syndrome [RCV001929839] Chr1:16987276 [GRCh38]
Chr1:17313771 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2332G>A (p.Ala778Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV001914565] Chr1:16990207 [GRCh38]
Chr1:17316702 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1951G>A (p.Ala651Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV001929698] Chr1:16992297 [GRCh38]
Chr1:17318792 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1113del (p.His372fs) deletion Kufor-Rakeb syndrome [RCV001871476] Chr1:16997102 [GRCh38]
Chr1:17323597 [GRCh37]
Chr1:1p36.13		 pathogenic
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13		 pathogenic
NM_022089.4(ATP13A2):c.3065T>C (p.Leu1022Pro) single nucleotide variant Kufor-Rakeb syndrome [RCV001983802] Chr1:16987064 [GRCh38]
Chr1:17313559 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1750-3C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002005186] Chr1:16992584 [GRCh38]
Chr1:17319079 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2905G>A (p.Val969Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV002006337] Chr1:16987224 [GRCh38]
Chr1:17313719 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1856C>T (p.Pro619Leu) single nucleotide variant Inborn genetic diseases [RCV004970719]|Kufor-Rakeb syndrome [RCV002001673] Chr1:16992392 [GRCh38]
Chr1:17318887 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1885C>T (p.Pro629Ser) single nucleotide variant Spastic tetraparesis [RCV001823951] Chr1:16992363 [GRCh38]
Chr1:17318858 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.904G>A (p.Gly302Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV002023561] Chr1:17000249 [GRCh38]
Chr1:17326744 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs) duplication Inborn genetic diseases [RCV004042456]|Kufor-Rakeb syndrome [RCV002022324]|not provided [RCV004691482]|not specified [RCV003155453] Chr1:16986247..16986248 [GRCh38]
Chr1:17312742..17312743 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.3041_3043dup (p.Gly1014dup) duplication Kufor-Rakeb syndrome [RCV001983199] Chr1:16987085..16987086 [GRCh38]
Chr1:17313580..17313581 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3434G>A (p.Cys1145Tyr) single nucleotide variant Kufor-Rakeb syndrome [RCV001892463] Chr1:16986330 [GRCh38]
Chr1:17312825 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1099G>A (p.Glu367Lys) single nucleotide variant Kufor-Rakeb syndrome [RCV001945222] Chr1:16997116 [GRCh38]
Chr1:17323611 [GRCh37]
Chr1:1p36.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_022089.4(ATP13A2):c.148T>C (p.Tyr50His) single nucleotide variant Kufor-Rakeb syndrome [RCV001983568] Chr1:17005514 [GRCh38]
Chr1:17332009 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.464T>G (p.Val155Gly) single nucleotide variant Kufor-Rakeb syndrome [RCV001911168] Chr1:17004705 [GRCh38]
Chr1:17331200 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.25G>A (p.Val9Met) single nucleotide variant Kufor-Rakeb syndrome [RCV002021661]|not provided [RCV003481253] Chr1:17005764 [GRCh38]
Chr1:17332259 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1 copy number loss not provided [RCV001829114] Chr1:16773001..20221073 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.1685G>A (p.Ser562Asn) single nucleotide variant Kufor-Rakeb syndrome [RCV001913818] Chr1:16993693 [GRCh38]
Chr1:17320188 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.821C>T (p.Ser274Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV001893665] Chr1:17000419 [GRCh38]
Chr1:17326914 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.13(chr1:17284531-17770100)x1 copy number loss not provided [RCV001836603] Chr1:17284531..17770100 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.289-3C>T single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV001823553] Chr1:17005075 [GRCh38]
Chr1:17331570 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3458G>C (p.Arg1153Pro) single nucleotide variant Kufor-Rakeb syndrome [RCV001983883] Chr1:16986306 [GRCh38]
Chr1:17312801 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1460G>A (p.Arg487Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV002039844]|not provided [RCV003481140] Chr1:16996058 [GRCh38]
Chr1:17322553 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2368G>A (p.Glu790Lys) single nucleotide variant Kufor-Rakeb syndrome [RCV001947914]|not specified [RCV002246596] Chr1:16990171 [GRCh38]
Chr1:17316666 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1196G>A (p.Gly399Glu) single nucleotide variant Kufor-Rakeb syndrome [RCV001872719] Chr1:16996496 [GRCh38]
Chr1:17322991 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1594_1617dup (p.Lys532_Leu539dup) duplication Kufor-Rakeb syndrome [RCV001892421]|not provided [RCV004793568] Chr1:16993760..16993761 [GRCh38]
Chr1:17320255..17320256 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1296C>T (p.Leu432=) single nucleotide variant Kufor-Rakeb syndrome [RCV001985662] Chr1:16996396 [GRCh38]
Chr1:17322891 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1405G>A (p.Val469Met) single nucleotide variant Kufor-Rakeb syndrome [RCV001947768] Chr1:16996113 [GRCh38]
Chr1:17322608 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2867C>T (p.Thr956Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV001984715] Chr1:16987262 [GRCh38]
Chr1:17313757 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1170C>A (p.His390Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV002021818] Chr1:16997045 [GRCh38]
Chr1:17323540 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2208C>G (p.Ile736Met) single nucleotide variant Kufor-Rakeb syndrome [RCV001890079] Chr1:16991777 [GRCh38]
Chr1:17318272 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1772C>T (p.Ala591Val) single nucleotide variant Kufor-Rakeb syndrome [RCV002039304] Chr1:16992559 [GRCh38]
Chr1:17319054 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3164G>C (p.Ser1055Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV001891662] Chr1:16986876 [GRCh38]
Chr1:17313371 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3356T>G (p.Leu1119Arg) single nucleotide variant Inborn genetic diseases [RCV002562733]|Kufor-Rakeb syndrome [RCV001962366] Chr1:16986512 [GRCh38]
Chr1:17313007 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1157A>T (p.Tyr386Phe) single nucleotide variant Kufor-Rakeb syndrome [RCV001962555] Chr1:16997058 [GRCh38]
Chr1:17323553 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.44G>C (p.Gly15Ala) single nucleotide variant Kufor-Rakeb syndrome [RCV002030731] Chr1:17005745 [GRCh38]
Chr1:17332240 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2927T>C (p.Val976Ala) single nucleotide variant Kufor-Rakeb syndrome [RCV001962468] Chr1:16987202 [GRCh38]
Chr1:17313697 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.340G>A (p.Glu114Lys) single nucleotide variant Kufor-Rakeb syndrome [RCV002031042] Chr1:17005021 [GRCh38]
Chr1:17331516 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2456G>A (p.Arg819Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV001977142] Chr1:16989960 [GRCh38]
Chr1:17316455 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.401T>C (p.Val134Ala) single nucleotide variant Kufor-Rakeb syndrome [RCV001980532] Chr1:17004768 [GRCh38]
Chr1:17331263 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3083+2T>C single nucleotide variant Kufor-Rakeb syndrome [RCV002038991] Chr1:16987044 [GRCh38]
Chr1:17313539 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.2417C>T (p.Pro806Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV001888670] Chr1:16989999 [GRCh38]
Chr1:17316494 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2230A>G (p.Ile744Val) single nucleotide variant Kufor-Rakeb syndrome [RCV001935736] Chr1:16991755 [GRCh38]
Chr1:17318250 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1897G>T (p.Ala633Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV002013671] Chr1:16992351 [GRCh38]
Chr1:17318846 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.529G>A (p.Glu177Lys) single nucleotide variant Kufor-Rakeb syndrome [RCV001982424] Chr1:17004360 [GRCh38]
Chr1:17330855 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1219C>A (p.Leu407Met) single nucleotide variant Kufor-Rakeb syndrome [RCV001963516] Chr1:16996473 [GRCh38]
Chr1:17322968 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.889G>A (p.Val297Met) single nucleotide variant Kufor-Rakeb syndrome [RCV001886426] Chr1:17000264 [GRCh38]
Chr1:17326759 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2126+20C>T single nucleotide variant Kufor-Rakeb syndrome [RCV001994658] Chr1:16991989 [GRCh38]
Chr1:17318484 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3084-20C>T single nucleotide variant Kufor-Rakeb syndrome [RCV001994732] Chr1:16986976 [GRCh38]
Chr1:17313471 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2527A>C (p.Lys843Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV001887917] Chr1:16989889 [GRCh38]
Chr1:17316384 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1295T>C (p.Leu432Pro) single nucleotide variant Kufor-Rakeb syndrome [RCV001887937] Chr1:16996397 [GRCh38]
Chr1:17322892 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2681C>T (p.Ser894Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV001943551] Chr1:16988403 [GRCh38]
Chr1:17314898 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3218G>A (p.Arg1073Gln) single nucleotide variant Inborn genetic diseases [RCV002557872]|Kufor-Rakeb syndrome [RCV001943679] Chr1:16986822 [GRCh38]
Chr1:17313317 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.386G>A (p.Arg129Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV001997137] Chr1:17004783 [GRCh38]
Chr1:17331278 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3442C>T (p.Arg1148Cys) single nucleotide variant Inborn genetic diseases [RCV004970535]|Kufor-Rakeb syndrome [RCV001923609] Chr1:16986322 [GRCh38]
Chr1:17312817 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3215G>A (p.Arg1072His) single nucleotide variant Kufor-Rakeb syndrome [RCV002016142] Chr1:16986825 [GRCh38]
Chr1:17313320 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1859T>C (p.Val620Ala) single nucleotide variant Kufor-Rakeb syndrome [RCV001951745] Chr1:16992389 [GRCh38]
Chr1:17318884 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter) single nucleotide variant Kufor-Rakeb syndrome [RCV001952943] Chr1:17002312 [GRCh38]
Chr1:17328807 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.1589C>T (p.Pro530Leu) single nucleotide variant Autosomal recessive spastic paraplegia type 78 [RCV003339767]|Kufor-Rakeb syndrome [RCV001934956] Chr1:16993789 [GRCh38]
Chr1:17320284 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.524G>T (p.Trp175Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV002011821] Chr1:17004365 [GRCh38]
Chr1:17330860 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2858C>G (p.Thr953Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV001878909] Chr1:16988139 [GRCh38]
Chr1:17314634 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.284A>G (p.Lys95Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV001935175] Chr1:17005378 [GRCh38]
Chr1:17331873 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3206C>A (p.Ala1069Glu) single nucleotide variant Inborn genetic diseases [RCV002562199]|Kufor-Rakeb syndrome [RCV001978700]|not provided [RCV003481209] Chr1:16986834 [GRCh38]
Chr1:17313329 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.13A>G (p.Ser5Gly) single nucleotide variant Kufor-Rakeb syndrome [RCV002027418] Chr1:17005776 [GRCh38]
Chr1:17332271 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2464C>T (p.His822Tyr) single nucleotide variant Kufor-Rakeb syndrome [RCV001978943] Chr1:16989952 [GRCh38]
Chr1:17316447 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3320C>T (p.Ala1107Val) single nucleotide variant Inborn genetic diseases [RCV004044743]|Kufor-Rakeb syndrome [RCV002046297] Chr1:16986548 [GRCh38]
Chr1:17313043 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2888T>C (p.Phe963Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV001936188] Chr1:16987241 [GRCh38]
Chr1:17313736 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2745C>T (p.Cys915=) single nucleotide variant ATP13A2-related disorder [RCV004738470]|Kufor-Rakeb syndrome [RCV001993277] Chr1:16988339 [GRCh38]
Chr1:17314834 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2015A>G (p.Asp672Gly) single nucleotide variant Inborn genetic diseases [RCV004039643]|Kufor-Rakeb syndrome [RCV001878559] Chr1:16992120 [GRCh38]
Chr1:17318615 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.334A>G (p.Ile112Val) single nucleotide variant Kufor-Rakeb syndrome [RCV001920142] Chr1:17005027 [GRCh38]
Chr1:17331522 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3408C>A (p.Ser1136Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV001981097] Chr1:16986356 [GRCh38]
Chr1:17312851 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1931C>G (p.Pro644Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV001907449] Chr1:16992317 [GRCh38]
Chr1:17318812 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.599C>G (p.Ser200Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV002036681] Chr1:17002332 [GRCh38]
Chr1:17328827 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2859G>T (p.Thr953=) single nucleotide variant Kufor-Rakeb syndrome [RCV001974109] Chr1:16988138 [GRCh38]
Chr1:17314633 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.221G>A (p.Arg74Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV002050812] Chr1:17005441 [GRCh38]
Chr1:17331936 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.374C>G (p.Ala125Gly) single nucleotide variant Inborn genetic diseases [RCV002561408]|Kufor-Rakeb syndrome [RCV001940880] Chr1:17004795 [GRCh38]
Chr1:17331290 [GRCh37]
Chr1:1p36.13		 uncertain significance
NC_000001.10:g.(?_17316166)_(17332293_?)del deletion Kufor-Rakeb syndrome [RCV001953412] Chr1:17316166..17332293 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.3471G>T (p.Lys1157Asn) single nucleotide variant Kufor-Rakeb syndrome [RCV001879392] Chr1:16986293 [GRCh38]
Chr1:17312788 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3193G>T (p.Val1065Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV001921821] Chr1:16986847 [GRCh38]
Chr1:17313342 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3440G>A (p.Arg1147His) single nucleotide variant Kufor-Rakeb syndrome [RCV001884059] Chr1:16986324 [GRCh38]
Chr1:17312819 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.484G>T (p.Val162Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV001974628] Chr1:17004405 [GRCh38]
Chr1:17330900 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1592T>C (p.Leu531Pro) single nucleotide variant Kufor-Rakeb syndrome [RCV001903241] Chr1:16993786 [GRCh38]
Chr1:17320281 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.864G>A (p.Met288Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV001996825] Chr1:17000289 [GRCh38]
Chr1:17326784 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1631G>A (p.Arg544His) single nucleotide variant Kufor-Rakeb syndrome [RCV001901410]|not provided [RCV003146330] Chr1:16993747 [GRCh38]
Chr1:17320242 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2326G>A (p.Val776Ile) single nucleotide variant Inborn genetic diseases [RCV002561469]|Kufor-Rakeb syndrome [RCV001952741] Chr1:16990213 [GRCh38]
Chr1:17316708 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.361C>T (p.Pro121Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV001885578] Chr1:17004808 [GRCh38]
Chr1:17331303 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3343G>A (p.Gly1115Ser) single nucleotide variant Inborn genetic diseases [RCV004970540]|Kufor-Rakeb syndrome [RCV001926129] Chr1:16986525 [GRCh38]
Chr1:17313020 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2130C>A (p.Asp710Glu) single nucleotide variant Kufor-Rakeb syndrome [RCV001938953] Chr1:16991855 [GRCh38]
Chr1:17318350 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2635G>A (p.Gly879Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV001925545] Chr1:16988449 [GRCh38]
Chr1:17314944 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.226C>T (p.Arg76Trp) single nucleotide variant Kufor-Rakeb syndrome [RCV001925311] Chr1:17005436 [GRCh38]
Chr1:17331931 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.20C>T (p.Pro7Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV001939160] Chr1:17005769 [GRCh38]
Chr1:17332264 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1795G>A (p.Val599Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV002018327] Chr1:16992536 [GRCh38]
Chr1:17319031 [GRCh37]
Chr1:1p36.13		 uncertain significance
NC_000001.10:g.(?_17330807)_(17332293_?)del deletion Kufor-Rakeb syndrome [RCV001958737] Chr1:17330807..17332293 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.288+13C>G single nucleotide variant Kufor-Rakeb syndrome [RCV001885795] Chr1:17005361 [GRCh38]
Chr1:17331856 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2478C>G (p.Ser826Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV001884374] Chr1:16989938 [GRCh38]
Chr1:17316433 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1477A>C (p.Ile493Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV001924488] Chr1:16996041 [GRCh38]
Chr1:17322536 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1846-2A>G single nucleotide variant Kufor-Rakeb syndrome [RCV002014056] Chr1:16992404 [GRCh38]
Chr1:17318899 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.1189C>T (p.Arg397Cys) single nucleotide variant Inborn genetic diseases [RCV002335006]|Kufor-Rakeb syndrome [RCV001990869] Chr1:16997026 [GRCh38]
Chr1:17323521 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2591G>T (p.Cys864Phe) single nucleotide variant Kufor-Rakeb syndrome [RCV001933159] Chr1:16989709 [GRCh38]
Chr1:17316204 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.4A>T (p.Ser2Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV001898394] Chr1:17011735 [GRCh38]
Chr1:17338230 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1710C>T (p.Gly570=) single nucleotide variant Inborn genetic diseases [RCV002397922]|Kufor-Rakeb syndrome [RCV001921584] Chr1:16993668 [GRCh38]
Chr1:17320163 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.395C>T (p.Ala132Val) single nucleotide variant Kufor-Rakeb syndrome [RCV002016884] Chr1:17004774 [GRCh38]
Chr1:17331269 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1762G>A (p.Glu588Lys) single nucleotide variant Kufor-Rakeb syndrome [RCV002016709] Chr1:16992569 [GRCh38]
Chr1:17319064 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2858C>T (p.Thr953Met) single nucleotide variant Inborn genetic diseases [RCV004043365]|Kufor-Rakeb syndrome [RCV001923235] Chr1:16988139 [GRCh38]
Chr1:17314634 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1542+13dup duplication Kufor-Rakeb syndrome [RCV001977976] Chr1:16995962..16995963 [GRCh38]
Chr1:17322457..17322458 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3001G>A (p.Val1001Met) single nucleotide variant Kufor-Rakeb syndrome [RCV002013875] Chr1:16987128 [GRCh38]
Chr1:17313623 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1696G>A (p.Asp566Asn) single nucleotide variant Kufor-Rakeb syndrome [RCV001922216] Chr1:16993682 [GRCh38]
Chr1:17320177 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2481G>T (p.Gly827=) single nucleotide variant Kufor-Rakeb syndrome [RCV002128057] Chr1:16989935 [GRCh38]
Chr1:17316430 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2673C>T (p.Val891=) single nucleotide variant Inborn genetic diseases [RCV002441245]|Kufor-Rakeb syndrome [RCV002092581] Chr1:16988411 [GRCh38]
Chr1:17314906 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.975G>A (p.Gly325=) single nucleotide variant Kufor-Rakeb syndrome [RCV002092042] Chr1:17000075 [GRCh38]
Chr1:17326570 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2049T>C (p.Ala683=) single nucleotide variant Kufor-Rakeb syndrome [RCV002089530] Chr1:16992086 [GRCh38]
Chr1:17318581 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1095T>C (p.Cys365=) single nucleotide variant Kufor-Rakeb syndrome [RCV002168460] Chr1:16997120 [GRCh38]
Chr1:17323615 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1543-15_1543-12del deletion Kufor-Rakeb syndrome [RCV002086342] Chr1:16993847..16993850 [GRCh38]
Chr1:17320342..17320345 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1750-20C>G single nucleotide variant Kufor-Rakeb syndrome [RCV002091057] Chr1:16992601 [GRCh38]
Chr1:17319096 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3360G>C (p.Leu1120=) single nucleotide variant Kufor-Rakeb syndrome [RCV002108028] Chr1:16986508 [GRCh38]
Chr1:17313003 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2723C>T (p.Ser908Leu) single nucleotide variant ATP13A2-related disorder [RCV004738512]|Kufor-Rakeb syndrome [RCV002187064] Chr1:16988361 [GRCh38]
Chr1:17314856 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1663C>T (p.Leu555=) single nucleotide variant Kufor-Rakeb syndrome [RCV002126057] Chr1:16993715 [GRCh38]
Chr1:17320210 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1195+18G>C single nucleotide variant Kufor-Rakeb syndrome [RCV002126332] Chr1:16997002 [GRCh38]
Chr1:17323497 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3411G>C (p.Val1137=) single nucleotide variant Kufor-Rakeb syndrome [RCV002124328] Chr1:16986353 [GRCh38]
Chr1:17312848 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1314C>T (p.Leu438=) single nucleotide variant Kufor-Rakeb syndrome [RCV002129137] Chr1:16996293 [GRCh38]
Chr1:17322788 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.208C>T (p.Leu70=) single nucleotide variant Kufor-Rakeb syndrome [RCV002210014] Chr1:17005454 [GRCh38]
Chr1:17331949 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3084-16A>T single nucleotide variant Kufor-Rakeb syndrome [RCV002188586] Chr1:16986972 [GRCh38]
Chr1:17313467 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2592C>T (p.Cys864=) single nucleotide variant Inborn genetic diseases [RCV002434592]|Kufor-Rakeb syndrome [RCV002188956] Chr1:16989708 [GRCh38]
Chr1:17316203 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.153C>T (p.His51=) single nucleotide variant Inborn genetic diseases [RCV002398255]|Kufor-Rakeb syndrome [RCV002074960] Chr1:17005509 [GRCh38]
Chr1:17332004 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1748G>A (p.Trp583Ter) single nucleotide variant not provided [RCV002224937] Chr1:16993630 [GRCh38]
Chr1:17320125 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.106-4G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002164983] Chr1:17005560 [GRCh38]
Chr1:17332055 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3235+16C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002109650] Chr1:16986789 [GRCh38]
Chr1:17313284 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.635+15G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002169134] Chr1:17002281 [GRCh38]
Chr1:17328776 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.642C>T (p.Ala214=) single nucleotide variant Kufor-Rakeb syndrome [RCV002108272] Chr1:17002097 [GRCh38]
Chr1:17328592 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3236-13C>G single nucleotide variant Kufor-Rakeb syndrome [RCV002214642] Chr1:16986645 [GRCh38]
Chr1:17313140 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3081A>G (p.Pro1027=) single nucleotide variant Kufor-Rakeb syndrome [RCV002213201] Chr1:16987048 [GRCh38]
Chr1:17313543 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1104A>G (p.Thr368=) single nucleotide variant Kufor-Rakeb syndrome [RCV002131957] Chr1:16997111 [GRCh38]
Chr1:17323606 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.264C>T (p.Leu88=) single nucleotide variant Kufor-Rakeb syndrome [RCV003774631]|not provided [RCV002211076] Chr1:17005398 [GRCh38]
Chr1:17331893 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.706-4C>A single nucleotide variant Kufor-Rakeb syndrome [RCV002105819] Chr1:17000538 [GRCh38]
Chr1:17327033 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1437G>A (p.Val479=) single nucleotide variant Kufor-Rakeb syndrome [RCV002152541] Chr1:16996081 [GRCh38]
Chr1:17322576 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1196-14C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002112508] Chr1:16996510 [GRCh38]
Chr1:17323005 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2538C>G (p.Val846=) single nucleotide variant Kufor-Rakeb syndrome [RCV002215994] Chr1:16989762 [GRCh38]
Chr1:17316257 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.558-11C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002130894] Chr1:17002384 [GRCh38]
Chr1:17328879 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1845+17C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002187441] Chr1:16992469 [GRCh38]
Chr1:17318964 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1665G>A (p.Leu555=) single nucleotide variant Kufor-Rakeb syndrome [RCV002210200] Chr1:16993713 [GRCh38]
Chr1:17320208 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.908-14C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002113772] Chr1:17000156 [GRCh38]
Chr1:17326651 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3405+7C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002135023] Chr1:16986456 [GRCh38]
Chr1:17312951 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1845+15G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002150510] Chr1:16992471 [GRCh38]
Chr1:17318966 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1039+11A>G single nucleotide variant Kufor-Rakeb syndrome [RCV002117153] Chr1:17000000 [GRCh38]
Chr1:17326495 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.348-16T>C single nucleotide variant Kufor-Rakeb syndrome [RCV002173123] Chr1:17004837 [GRCh38]
Chr1:17331332 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.635+19C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002108912] Chr1:17002277 [GRCh38]
Chr1:17328772 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1900C>G (p.Leu634Val) single nucleotide variant Inborn genetic diseases [RCV002409537]|Kufor-Rakeb syndrome [RCV002150419] Chr1:16992348 [GRCh38]
Chr1:17318843 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.942C>T (p.Pro314=) single nucleotide variant Kufor-Rakeb syndrome [RCV002165720] Chr1:17000108 [GRCh38]
Chr1:17326603 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.*76C>T single nucleotide variant not provided [RCV002224801] Chr1:16986145 [GRCh38]
Chr1:17312640 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2083C>T (p.Leu695=) single nucleotide variant Kufor-Rakeb syndrome [RCV002113076] Chr1:16992052 [GRCh38]
Chr1:17318547 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1307-13G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002114551] Chr1:16996313 [GRCh38]
Chr1:17322808 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.558-20C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002104559] Chr1:17002393 [GRCh38]
Chr1:17328888 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1307-20G>T single nucleotide variant Kufor-Rakeb syndrome [RCV002129279] Chr1:16996320 [GRCh38]
Chr1:17322815 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.429G>A (p.Lys143=) single nucleotide variant Kufor-Rakeb syndrome [RCV002129562] Chr1:17004740 [GRCh38]
Chr1:17331235 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2252-18T>C single nucleotide variant Kufor-Rakeb syndrome [RCV002111469] Chr1:16990305 [GRCh38]
Chr1:17316800 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2136G>A (p.Val712=) single nucleotide variant Kufor-Rakeb syndrome [RCV002076491] Chr1:16991849 [GRCh38]
Chr1:17318344 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2556C>T (p.Ala852=) single nucleotide variant Kufor-Rakeb syndrome [RCV002076650] Chr1:16989744 [GRCh38]
Chr1:17316239 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1857G>A (p.Pro619=) single nucleotide variant Inborn genetic diseases [RCV002409569]|Kufor-Rakeb syndrome [RCV002131123] Chr1:16992391 [GRCh38]
Chr1:17318886 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1182G>T (p.Val394=) single nucleotide variant Kufor-Rakeb syndrome [RCV002214919] Chr1:16997033 [GRCh38]
Chr1:17323528 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1542+11A>G single nucleotide variant Kufor-Rakeb syndrome [RCV002189250] Chr1:16995965 [GRCh38]
Chr1:17322460 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.24C>A (p.Leu8=) single nucleotide variant Kufor-Rakeb syndrome [RCV002194610] Chr1:17005765 [GRCh38]
Chr1:17332260 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2530-14C>A single nucleotide variant Kufor-Rakeb syndrome [RCV002078694] Chr1:16989784 [GRCh38]
Chr1:17316279 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1542+13G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002155663] Chr1:16995963 [GRCh38]
Chr1:17322458 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.585C>T (p.Asp195=) single nucleotide variant Kufor-Rakeb syndrome [RCV002175416]|not provided [RCV003312040] Chr1:17002346 [GRCh38]
Chr1:17328841 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2529+7C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002098008] Chr1:16989880 [GRCh38]
Chr1:17316375 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.288+16A>T single nucleotide variant Kufor-Rakeb syndrome [RCV002135595] Chr1:17005358 [GRCh38]
Chr1:17331853 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2340C>T (p.His780=) single nucleotide variant Kufor-Rakeb syndrome [RCV002156149]|not provided [RCV003408153] Chr1:16990199 [GRCh38]
Chr1:17316694 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1704C>T (p.Pro568=) single nucleotide variant Inborn genetic diseases [RCV002398200]|Kufor-Rakeb syndrome [RCV002083126] Chr1:16993674 [GRCh38]
Chr1:17320169 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1233C>A (p.Ile411=) single nucleotide variant Kufor-Rakeb syndrome [RCV002177213] Chr1:16996459 [GRCh38]
Chr1:17322954 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2119C>T (p.Leu707=) single nucleotide variant Kufor-Rakeb syndrome [RCV002100297] Chr1:16992016 [GRCh38]
Chr1:17318511 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3462C>T (p.Ala1154=) single nucleotide variant Kufor-Rakeb syndrome [RCV002100435] Chr1:16986302 [GRCh38]
Chr1:17312797 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.706-16C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002083777] Chr1:17000550 [GRCh38]
Chr1:17327045 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2478C>T (p.Ser826=) single nucleotide variant Kufor-Rakeb syndrome [RCV002124073]|not provided [RCV003408141] Chr1:16989938 [GRCh38]
Chr1:17316433 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3144C>T (p.Thr1048=) single nucleotide variant Kufor-Rakeb syndrome [RCV002139997] Chr1:16986896 [GRCh38]
Chr1:17313391 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.192C>T (p.Leu64=) single nucleotide variant Kufor-Rakeb syndrome [RCV002157115] Chr1:17005470 [GRCh38]
Chr1:17331965 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3235+20C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002162832] Chr1:16986785 [GRCh38]
Chr1:17313280 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.288+12G>T single nucleotide variant Kufor-Rakeb syndrome [RCV002153940] Chr1:17005362 [GRCh38]
Chr1:17331857 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.636-19G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002135452] Chr1:17002122 [GRCh38]
Chr1:17328617 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2762+19G>C single nucleotide variant Kufor-Rakeb syndrome [RCV002083174] Chr1:16988303 [GRCh38]
Chr1:17314798 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1215G>T (p.Gly405=) single nucleotide variant Kufor-Rakeb syndrome [RCV002100070] Chr1:16996477 [GRCh38]
Chr1:17322972 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2763-17C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002154683] Chr1:16988251 [GRCh38]
Chr1:17314746 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2043A>G (p.Thr681=) single nucleotide variant Kufor-Rakeb syndrome [RCV002084098] Chr1:16992092 [GRCh38]
Chr1:17318587 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3405+10G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002084334] Chr1:16986453 [GRCh38]
Chr1:17312948 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.706-13G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002219888] Chr1:17000547 [GRCh38]
Chr1:17327042 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1975C>T (p.Leu659=) single nucleotide variant Kufor-Rakeb syndrome [RCV002216516] Chr1:16992273 [GRCh38]
Chr1:17318768 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3174C>T (p.Tyr1058=) single nucleotide variant Kufor-Rakeb syndrome [RCV002175639] Chr1:16986866 [GRCh38]
Chr1:17313361 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.144C>T (p.Ile48=) single nucleotide variant Kufor-Rakeb syndrome [RCV002183831] Chr1:17005518 [GRCh38]
Chr1:17332013 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.219G>A (p.Val73=) single nucleotide variant Kufor-Rakeb syndrome [RCV002157102] Chr1:17005443 [GRCh38]
Chr1:17331938 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.908-20C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002200715] Chr1:17000162 [GRCh38]
Chr1:17326657 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1563C>T (p.Asp521=) single nucleotide variant Inborn genetic diseases [RCV002400373]|Kufor-Rakeb syndrome [RCV002161311] Chr1:16993815 [GRCh38]
Chr1:17320310 [GRCh37]
Chr1:1p36.13		 likely benign
NC_000001.10:g.(?_17316166)_(17338233_?)dup duplication Kufor-Rakeb syndrome [RCV003109863] Chr1:17316166..17338233 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1845+15del deletion Kufor-Rakeb syndrome [RCV003110414] Chr1:16992471 [GRCh38]
Chr1:17318966 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.598T>C (p.Ser200Pro) single nucleotide variant Kufor-Rakeb syndrome [RCV003112018] Chr1:17002333 [GRCh38]
Chr1:17328828 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.835A>G (p.Arg279Gly) single nucleotide variant Kufor-Rakeb syndrome [RCV003118055] Chr1:17000405 [GRCh38]
Chr1:17326900 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1819C>G (p.Leu607Val) single nucleotide variant Kufor-Rakeb syndrome [RCV003112149] Chr1:16992512 [GRCh38]
Chr1:17319007 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.919G>A (p.Val307Met) single nucleotide variant Kufor-Rakeb syndrome [RCV003112152] Chr1:17000131 [GRCh38]
Chr1:17326626 [GRCh37]
Chr1:1p36.13		 uncertain significance
NC_000001.10:g.(?_17312716)_(17338233_?)dup duplication Kufor-Rakeb syndrome [RCV003111448] Chr1:17312716..17338233 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter) single nucleotide variant Kufor-Rakeb syndrome [RCV003115622] Chr1:17005449 [GRCh38]
Chr1:17331944 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.635+10G>C single nucleotide variant Kufor-Rakeb syndrome [RCV003116580] Chr1:17002286 [GRCh38]
Chr1:17328781 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2958C>G (p.Val986=) single nucleotide variant Kufor-Rakeb syndrome [RCV003121246] Chr1:16987171 [GRCh38]
Chr1:17313666 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2005+13G>A single nucleotide variant Kufor-Rakeb syndrome [RCV003121626] Chr1:16992230 [GRCh38]
Chr1:17318725 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2896A>G (p.Ile966Val) single nucleotide variant Kufor-Rakeb syndrome [RCV003148414] Chr1:16987233 [GRCh38]
Chr1:17313728 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.*17C>T single nucleotide variant not provided [RCV002292729] Chr1:16986204 [GRCh38]
Chr1:17312699 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2841C>T (p.Ser947=) single nucleotide variant Inborn genetic diseases [RCV002435253]|Kufor-Rakeb syndrome [RCV003775393] Chr1:16988156 [GRCh38]
Chr1:17314651 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3543G>T (p.Ter1181Tyr) single nucleotide variant not specified [RCV002281869] Chr1:16986221 [GRCh38]
Chr1:17312716 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3535_3536del (p.Leu1179fs) deletion not specified [RCV002283396] Chr1:16986228..16986229 [GRCh38]
Chr1:17312723..17312724 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.*11C>T single nucleotide variant not provided [RCV002262215] Chr1:16986210 [GRCh38]
Chr1:17312705 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.373G>C (p.Ala125Pro) single nucleotide variant Inborn genetic diseases [RCV002349234]|Kufor-Rakeb syndrome [RCV003094339] Chr1:17004796 [GRCh38]
Chr1:17331291 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1956C>T (p.Tyr652=) single nucleotide variant Inborn genetic diseases [RCV002421620]|Kufor-Rakeb syndrome [RCV003097386] Chr1:16992292 [GRCh38]
Chr1:17318787 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.671C>T (p.Pro224Leu) single nucleotide variant Inborn genetic diseases [RCV002367241] Chr1:17002068 [GRCh38]
Chr1:17328563 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=) single nucleotide variant Inborn genetic diseases [RCV002351364]|Kufor-Rakeb syndrome [RCV003096551] Chr1:17004391 [GRCh38]
Chr1:17330886 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.629T>A (p.Met210Lys) single nucleotide variant Inborn genetic diseases [RCV002368767]|Kufor-Rakeb syndrome [RCV003098188] Chr1:17002302 [GRCh38]
Chr1:17328797 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3269C>T (p.Ser1090Phe) single nucleotide variant Inborn genetic diseases [RCV003285217] Chr1:16986599 [GRCh38]
Chr1:17313094 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 copy number loss not provided [RCV002474779] Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13		 pathogenic
NM_022089.4(ATP13A2):c.1298_1299del (p.Ser433fs) microsatellite Kufor-Rakeb syndrome [RCV002467405] Chr1:16996393..16996394 [GRCh38]
Chr1:17322888..17322889 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.2118A>G (p.Gln706=) single nucleotide variant Inborn genetic diseases [RCV002417567] Chr1:16992017 [GRCh38]
Chr1:17318512 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2170A>C (p.Met724Leu) single nucleotide variant Inborn genetic diseases [RCV002417943] Chr1:16991815 [GRCh38]
Chr1:17318310 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1853C>A (p.Pro618His) single nucleotide variant Kufor-Rakeb syndrome [RCV002295538] Chr1:16992395 [GRCh38]
Chr1:17318890 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3184G>T (p.Ala1062Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV002299880] Chr1:16986856 [GRCh38]
Chr1:17313351 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1407_1428dup (p.Met477fs) duplication Kufor-Rakeb syndrome [RCV003234628] Chr1:16996089..16996090 [GRCh38]
Chr1:17322584..17322585 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.1983A>G (p.Ala661=) single nucleotide variant Inborn genetic diseases [RCV002423712] Chr1:16992265 [GRCh38]
Chr1:17318760 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1423G>A (p.Ala475Thr) single nucleotide variant Inborn genetic diseases [RCV002391877] Chr1:16996095 [GRCh38]
Chr1:17322590 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2189C>T (p.Pro730Leu) single nucleotide variant Inborn genetic diseases [RCV002425533]|Kufor-Rakeb syndrome [RCV003101118] Chr1:16991796 [GRCh38]
Chr1:17318291 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2416C>A (p.Pro806Thr) single nucleotide variant Inborn genetic diseases [RCV002450364] Chr1:16990000 [GRCh38]
Chr1:17316495 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3490C>T (p.Arg1164Ter) single nucleotide variant Inborn genetic diseases [RCV002459020]|Kufor-Rakeb syndrome [RCV003099519] Chr1:16986274 [GRCh38]
Chr1:17312769 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.126C>G (p.Gly42=) single nucleotide variant Inborn genetic diseases [RCV002375990] Chr1:17005536 [GRCh38]
Chr1:17332031 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.47A>T (p.Tyr16Phe) single nucleotide variant Inborn genetic diseases [RCV002337861] Chr1:17005742 [GRCh38]
Chr1:17332237 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1573G>A (p.Val525Met) single nucleotide variant Inborn genetic diseases [RCV002405680] Chr1:16993805 [GRCh38]
Chr1:17320300 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1236G>T (p.Leu412Phe) single nucleotide variant Inborn genetic diseases [RCV002365138] Chr1:16996456 [GRCh38]
Chr1:17322951 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3426C>G (p.Leu1142=) single nucleotide variant Inborn genetic diseases [RCV002456985]|Kufor-Rakeb syndrome [RCV003099474] Chr1:16986338 [GRCh38]
Chr1:17312833 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.881G>C (p.Arg294Pro) single nucleotide variant Inborn genetic diseases [RCV002373753] Chr1:17000272 [GRCh38]
Chr1:17326767 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3176T>G (p.Leu1059Arg) single nucleotide variant Inborn genetic diseases [RCV002322688] Chr1:16986864 [GRCh38]
Chr1:17313359 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.653C>A (p.Pro218His) single nucleotide variant Inborn genetic diseases [RCV002364308] Chr1:17002086 [GRCh38]
Chr1:17328581 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2235C>T (p.Arg745=) single nucleotide variant Inborn genetic diseases [RCV002428299]|Kufor-Rakeb syndrome [RCV003101154] Chr1:16991750 [GRCh38]
Chr1:17318245 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile) single nucleotide variant Inborn genetic diseases [RCV002355670]|Kufor-Rakeb syndrome [RCV003098043] Chr1:17002342 [GRCh38]
Chr1:17328837 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.602G>A (p.Arg201His) single nucleotide variant Inborn genetic diseases [RCV002358162] Chr1:17002329 [GRCh38]
Chr1:17328824 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.604del (p.His202fs) deletion Inborn genetic diseases [RCV002358256]|Kufor-Rakeb syndrome [RCV003098114] Chr1:17002327 [GRCh38]
Chr1:17328822 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.911A>G (p.Glu304Gly) single nucleotide variant Inborn genetic diseases [RCV002378693] Chr1:17000139 [GRCh38]
Chr1:17326634 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1195+5G>A single nucleotide variant Inborn genetic diseases [RCV002338326]|Kufor-Rakeb syndrome [RCV003096635] Chr1:16997015 [GRCh38]
Chr1:17323510 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.336C>T (p.Ile112=) single nucleotide variant Inborn genetic diseases [RCV002451722] Chr1:17005025 [GRCh38]
Chr1:17331520 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3428C>A (p.Pro1143His) single nucleotide variant Inborn genetic diseases [RCV002456993] Chr1:16986336 [GRCh38]
Chr1:17312831 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile) single nucleotide variant Inborn genetic diseases [RCV002325008]|Kufor-Rakeb syndrome [RCV003099350] Chr1:16986597 [GRCh38]
Chr1:17313092 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2530-3C>T single nucleotide variant Inborn genetic diseases [RCV002433154] Chr1:16989773 [GRCh38]
Chr1:17316268 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1789A>T (p.Thr597Ser) single nucleotide variant Inborn genetic diseases [RCV002404186] Chr1:16992542 [GRCh38]
Chr1:17319037 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3183G>A (p.Leu1061=) single nucleotide variant Inborn genetic diseases [RCV002322770]|Kufor-Rakeb syndrome [RCV003099273] Chr1:16986857 [GRCh38]
Chr1:17313352 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.60G>A (p.Thr20=) single nucleotide variant Inborn genetic diseases [RCV002360159] Chr1:17005729 [GRCh38]
Chr1:17332224 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.477+5G>T single nucleotide variant Inborn genetic diseases [RCV002330661] Chr1:17004687 [GRCh38]
Chr1:17331182 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.781C>G (p.Leu261Val) single nucleotide variant Inborn genetic diseases [RCV002409981] Chr1:17000459 [GRCh38]
Chr1:17326954 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1190G>A (p.Arg397His) single nucleotide variant Inborn genetic diseases [RCV002343131]|Kufor-Rakeb syndrome [RCV003096568] Chr1:16997025 [GRCh38]
Chr1:17323520 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3449G>A (p.Arg1150Gln) single nucleotide variant Inborn genetic diseases [RCV002460202]|Kufor-Rakeb syndrome [RCV003099490] Chr1:16986315 [GRCh38]
Chr1:17312810 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2180T>C (p.Leu727Pro) single nucleotide variant Kufor-Rakeb syndrome [RCV002303304] Chr1:16991805 [GRCh38]
Chr1:17318300 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.585C>G (p.Asp195Glu) single nucleotide variant Inborn genetic diseases [RCV002353383] Chr1:17002346 [GRCh38]
Chr1:17328841 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1044G>C (p.Glu348Asp) single nucleotide variant Inborn genetic diseases [RCV002392584] Chr1:16997171 [GRCh38]
Chr1:17323666 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1461A>G (p.Arg487=) single nucleotide variant Inborn genetic diseases [RCV002396734] Chr1:16996057 [GRCh38]
Chr1:17322552 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2252-11_2252-4delinsTGTCTG indel Inborn genetic diseases [RCV002443557] Chr1:16990291..16990298 [GRCh38]
Chr1:17316786..17316793 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2045C>T (p.Ala682Val) single nucleotide variant Kufor-Rakeb syndrome [RCV002995203] Chr1:16992090 [GRCh38]
Chr1:17318585 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1325_1333del (p.Tyr442_Ile444del) deletion Kufor-Rakeb syndrome [RCV002726634] Chr1:16996274..16996282 [GRCh38]
Chr1:17322769..17322777 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1188C>T (p.Thr396=) single nucleotide variant Kufor-Rakeb syndrome [RCV003075121] Chr1:16997027 [GRCh38]
Chr1:17323522 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.710T>C (p.Leu237Pro) single nucleotide variant Kufor-Rakeb syndrome [RCV002995659] Chr1:17000530 [GRCh38]
Chr1:17327025 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1353+16G>C single nucleotide variant Kufor-Rakeb syndrome [RCV003012430] Chr1:16996238 [GRCh38]
Chr1:17322733 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1227C>G (p.Ser409Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV002967745] Chr1:16996465 [GRCh38]
Chr1:17322960 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3206C>G (p.Ala1069Gly) single nucleotide variant Inborn genetic diseases [RCV003274071]|Kufor-Rakeb syndrome [RCV002903650] Chr1:16986834 [GRCh38]
Chr1:17313329 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.747G>A (p.Ala249=) single nucleotide variant Kufor-Rakeb syndrome [RCV003014191]|not provided [RCV003992699] Chr1:17000493 [GRCh38]
Chr1:17326988 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2976A>C (p.Pro992=) single nucleotide variant Kufor-Rakeb syndrome [RCV002681954] Chr1:16987153 [GRCh38]
Chr1:17313648 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.469G>A (p.Val157Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV002903195] Chr1:17004700 [GRCh38]
Chr1:17331195 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3400C>T (p.Leu1134=) single nucleotide variant Kufor-Rakeb syndrome [RCV002971370] Chr1:16986468 [GRCh38]
Chr1:17312963 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1322T>C (p.Ile441Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV002972563] Chr1:16996285 [GRCh38]
Chr1:17322780 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2979_2993del (p.Gly994_Ser998del) deletion Inborn genetic diseases [RCV002860033] Chr1:16987136..16987150 [GRCh38]
Chr1:17313631..17313645 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2094G>A (p.Val698=) single nucleotide variant Kufor-Rakeb syndrome [RCV002947974] Chr1:16992041 [GRCh38]
Chr1:17318536 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2763-8C>A single nucleotide variant Kufor-Rakeb syndrome [RCV002755227] Chr1:16988242 [GRCh38]
Chr1:17314737 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.557+7G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002843874] Chr1:17004325 [GRCh38]
Chr1:17330820 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1845+14G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002858542] Chr1:16992472 [GRCh38]
Chr1:17318967 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3233A>G (p.Asn1078Ser) single nucleotide variant Inborn genetic diseases [RCV002997519] Chr1:16986807 [GRCh38]
Chr1:17313302 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter) single nucleotide variant Kufor-Rakeb syndrome [RCV002819521] Chr1:16992506 [GRCh38]
Chr1:17319001 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.2227C>T (p.Arg743Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV002908574] Chr1:16991758 [GRCh38]
Chr1:17318253 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1307-11T>C single nucleotide variant Kufor-Rakeb syndrome [RCV003073895] Chr1:16996311 [GRCh38]
Chr1:17322806 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1120C>A (p.Leu374Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV002995704] Chr1:16997095 [GRCh38]
Chr1:17323590 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3406-8del deletion Kufor-Rakeb syndrome [RCV003016174] Chr1:16986366 [GRCh38]
Chr1:17312861 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1543-7C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002571614]|not provided [RCV002511577] Chr1:16993842 [GRCh38]
Chr1:17320337 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1353G>A (p.Arg451=) single nucleotide variant Kufor-Rakeb syndrome [RCV002815933] Chr1:16996254 [GRCh38]
Chr1:17322749 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2395G>A (p.Ala799Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV002881955] Chr1:16990144 [GRCh38]
Chr1:17316639 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.702C>T (p.Asp234=) single nucleotide variant Kufor-Rakeb syndrome [RCV002726680] Chr1:17002037 [GRCh38]
Chr1:17328532 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2451C>G (p.Asp817Glu) single nucleotide variant Inborn genetic diseases [RCV003032455]|Kufor-Rakeb syndrome [RCV003046249] Chr1:16989965 [GRCh38]
Chr1:17316460 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2829C>G (p.Thr943=) single nucleotide variant Kufor-Rakeb syndrome [RCV002861295] Chr1:16988168 [GRCh38]
Chr1:17314663 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter) single nucleotide variant Kufor-Rakeb syndrome [RCV002819487] Chr1:16992022 [GRCh38]
Chr1:17318517 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.2252-12C>G single nucleotide variant Kufor-Rakeb syndrome [RCV002908490] Chr1:16990299 [GRCh38]
Chr1:17316794 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2967G>A (p.Arg989=) single nucleotide variant Kufor-Rakeb syndrome [RCV002927991] Chr1:16987162 [GRCh38]
Chr1:17313657 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1354-17A>C single nucleotide variant Kufor-Rakeb syndrome [RCV003054042] Chr1:16996181 [GRCh38]
Chr1:17322676 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter) single nucleotide variant Kufor-Rakeb syndrome [RCV002913788]|Kufor-Rakeb syndrome [RCV004765595]|Neurodegeneration with brain iron accumulation [RCV003111604] Chr1:17000466 [GRCh38]
Chr1:17326961 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.408G>A (p.Ala136=) single nucleotide variant Kufor-Rakeb syndrome [RCV002953611] Chr1:17004761 [GRCh38]
Chr1:17331256 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1040-13C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002889851] Chr1:16997188 [GRCh38]
Chr1:17323683 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.10+14C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002914473] Chr1:17011715 [GRCh38]
Chr1:17338210 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1749+12A>G single nucleotide variant Kufor-Rakeb syndrome [RCV003078976] Chr1:16993617 [GRCh38]
Chr1:17320112 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1279A>G (p.Lys427Glu) single nucleotide variant Kufor-Rakeb syndrome [RCV002696109] Chr1:16996413 [GRCh38]
Chr1:17322908 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2239G>A (p.Val747Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV002740355] Chr1:16991746 [GRCh38]
Chr1:17318241 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1499G>A (p.Arg500His) single nucleotide variant Inborn genetic diseases [RCV002981647] Chr1:16996019 [GRCh38]
Chr1:17322514 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3127C>G (p.Pro1043Ala) single nucleotide variant Inborn genetic diseases [RCV002707989] Chr1:16986913 [GRCh38]
Chr1:17313408 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3083+5G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002914146] Chr1:16987041 [GRCh38]
Chr1:17313536 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2799C>T (p.Val933=) single nucleotide variant Kufor-Rakeb syndrome [RCV002914316] Chr1:16988198 [GRCh38]
Chr1:17314693 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3235+14C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002889773] Chr1:16986791 [GRCh38]
Chr1:17313286 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2412+12C>G single nucleotide variant Kufor-Rakeb syndrome [RCV002663037] Chr1:16990115 [GRCh38]
Chr1:17316610 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.966G>A (p.Gln322=) single nucleotide variant Kufor-Rakeb syndrome [RCV002636534] Chr1:17000084 [GRCh38]
Chr1:17326579 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1351C>T (p.Arg451Trp) single nucleotide variant Kufor-Rakeb syndrome [RCV002949594] Chr1:16996256 [GRCh38]
Chr1:17322751 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2529+10C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002999543] Chr1:16989877 [GRCh38]
Chr1:17316372 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1075G>A (p.Glu359Lys) single nucleotide variant Kufor-Rakeb syndrome [RCV003079837] Chr1:16997140 [GRCh38]
Chr1:17323635 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.908-13T>G single nucleotide variant Kufor-Rakeb syndrome [RCV002999588] Chr1:17000155 [GRCh38]
Chr1:17326650 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2400G>C (p.Val800=) single nucleotide variant Kufor-Rakeb syndrome [RCV002976092] Chr1:16990139 [GRCh38]
Chr1:17316634 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3426C>A (p.Leu1142=) single nucleotide variant Kufor-Rakeb syndrome [RCV003036902] Chr1:16986338 [GRCh38]
Chr1:17312833 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2954T>C (p.Leu985Pro) single nucleotide variant Kufor-Rakeb syndrome [RCV003079384] Chr1:16987175 [GRCh38]
Chr1:17313670 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.965del (p.Gln322fs) deletion Kufor-Rakeb syndrome [RCV002847354] Chr1:17000085 [GRCh38]
Chr1:17326580 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.3084-7C>A single nucleotide variant Kufor-Rakeb syndrome [RCV003080722] Chr1:16986963 [GRCh38]
Chr1:17313458 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.7G>A (p.Ala3Thr) single nucleotide variant Inborn genetic diseases [RCV002692040] Chr1:17011732 [GRCh38]
Chr1:17338227 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.908-8G>A single nucleotide variant Kufor-Rakeb syndrome [RCV003078388] Chr1:17000150 [GRCh38]
Chr1:17326645 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2202A>G (p.Pro734=) single nucleotide variant Kufor-Rakeb syndrome [RCV002620909] Chr1:16991783 [GRCh38]
Chr1:17318278 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1400T>A (p.Val467Glu) single nucleotide variant Kufor-Rakeb syndrome [RCV002571148] Chr1:16996118 [GRCh38]
Chr1:17322613 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.635+8C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002590983] Chr1:17002288 [GRCh38]
Chr1:17328783 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.218T>C (p.Val73Ala) single nucleotide variant Kufor-Rakeb syndrome [RCV002619916] Chr1:17005444 [GRCh38]
Chr1:17331939 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2251+5A>G single nucleotide variant Inborn genetic diseases [RCV003002396]|Kufor-Rakeb syndrome [RCV003002397] Chr1:16991729 [GRCh38]
Chr1:17318224 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2587del (p.Val863fs) deletion Kufor-Rakeb syndrome [RCV002866471] Chr1:16989713 [GRCh38]
Chr1:17316208 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.2864A>G (p.Asn955Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV002705473] Chr1:16987265 [GRCh38]
Chr1:17313760 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3399G>A (p.Met1133Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV002592318] Chr1:16986469 [GRCh38]
Chr1:17312964 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1439G>A (p.Cys480Tyr) single nucleotide variant Inborn genetic diseases [RCV002925671] Chr1:16996079 [GRCh38]
Chr1:17322574 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.705+11C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002913656] Chr1:17002023 [GRCh38]
Chr1:17328518 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2127-2_2127-1delinsCC indel Kufor-Rakeb syndrome [RCV002847403] Chr1:16991859..16991860 [GRCh38]
Chr1:17318354..17318355 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.631G>T (p.Val211Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV002735251] Chr1:17002300 [GRCh38]
Chr1:17328795 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1045_1046del (p.Ser349fs) microsatellite Autosomal recessive spastic paraplegia type 78 [RCV002509909] Chr1:16997169..16997170 [GRCh38]
Chr1:17323664..17323665 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.289-13C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002800049] Chr1:17005085 [GRCh38]
Chr1:17331580 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.344G>T (p.Gly115Val) single nucleotide variant Kufor-Rakeb syndrome [RCV002659423] Chr1:17005017 [GRCh38]
Chr1:17331512 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3281del (p.Gly1094fs) deletion Neurodegeneration with brain iron accumulation [RCV002510343] Chr1:16986587 [GRCh38]
Chr1:17313082 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.2763-4_2763-1del deletion Kufor-Rakeb syndrome [RCV003037983] Chr1:16988235..16988238 [GRCh38]
Chr1:17314730..17314733 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.3543G>A (p.Ter1181=) single nucleotide variant Kufor-Rakeb syndrome [RCV002927457] Chr1:16986221 [GRCh38]
Chr1:17312716 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.217dup (p.Val73fs) duplication Kufor-Rakeb syndrome [RCV003079000] Chr1:17005444..17005445 [GRCh38]
Chr1:17331939..17331940 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.841-20C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003054947] Chr1:17000332 [GRCh38]
Chr1:17326827 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.942C>G (p.Pro314=) single nucleotide variant Kufor-Rakeb syndrome [RCV002909921] Chr1:17000108 [GRCh38]
Chr1:17326603 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3270C>T (p.Ser1090=) single nucleotide variant Kufor-Rakeb syndrome [RCV003085701] Chr1:16986598 [GRCh38]
Chr1:17313093 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1040-18C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002933243] Chr1:16997193 [GRCh38]
Chr1:17323688 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.478-7C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002932067] Chr1:17004418 [GRCh38]
Chr1:17330913 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1766C>A (p.Pro589Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV002572947] Chr1:16992565 [GRCh38]
Chr1:17319060 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3153dup (p.Ser1052fs) duplication Kufor-Rakeb syndrome [RCV002711920] Chr1:16986886..16986887 [GRCh38]
Chr1:17313381..17313382 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.841-18C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002828352] Chr1:17000330 [GRCh38]
Chr1:17326825 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1720G>A (p.Asp574Asn) single nucleotide variant Kufor-Rakeb syndrome [RCV002982743] Chr1:16993658 [GRCh38]
Chr1:17320153 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1780G>A (p.Ala594Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV002805705] Chr1:16992551 [GRCh38]
Chr1:17319046 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3053G>C (p.Gly1018Ala) single nucleotide variant Inborn genetic diseases [RCV002712686] Chr1:16987076 [GRCh38]
Chr1:17313571 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.258A>C (p.Glu86Asp) single nucleotide variant Kufor-Rakeb syndrome [RCV003042571] Chr1:17005404 [GRCh38]
Chr1:17331899 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3457C>A (p.Arg1153=) single nucleotide variant Kufor-Rakeb syndrome [RCV002644312] Chr1:16986307 [GRCh38]
Chr1:17312802 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3080C>A (p.Pro1027Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV003084935] Chr1:16987049 [GRCh38]
Chr1:17313544 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1195+19G>A single nucleotide variant Kufor-Rakeb syndrome [RCV003085530] Chr1:16997001 [GRCh38]
Chr1:17323496 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1906C>T (p.Arg636Cys) single nucleotide variant Inborn genetic diseases [RCV002804032] Chr1:16992342 [GRCh38]
Chr1:17318837 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.190C>T (p.Leu64Phe) single nucleotide variant Kufor-Rakeb syndrome [RCV002710242] Chr1:17005472 [GRCh38]
Chr1:17331967 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.106-13G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002985574] Chr1:17005569 [GRCh38]
Chr1:17332064 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3135C>T (p.Tyr1045=) single nucleotide variant Kufor-Rakeb syndrome [RCV003056913] Chr1:16986905 [GRCh38]
Chr1:17313400 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2898C>T (p.Ile966=) single nucleotide variant Kufor-Rakeb syndrome [RCV003006157]|not provided [RCV004779399] Chr1:16987231 [GRCh38]
Chr1:17313726 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2333C>G (p.Ala778Gly) single nucleotide variant Kufor-Rakeb syndrome [RCV002740887] Chr1:16990206 [GRCh38]
Chr1:17316701 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2965C>T (p.Arg989Trp) single nucleotide variant ATP13A2-related disorder [RCV004738603]|Inborn genetic diseases [RCV004067726]|Kufor-Rakeb syndrome [RCV002711281]|not provided [RCV003235740] Chr1:16987164 [GRCh38]
Chr1:17313659 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.1749+15C>G single nucleotide variant Kufor-Rakeb syndrome [RCV002982797] Chr1:16993614 [GRCh38]
Chr1:17320109 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2664G>T (p.Ala888=) single nucleotide variant Kufor-Rakeb syndrome [RCV002982397] Chr1:16988420 [GRCh38]
Chr1:17314915 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1145A>G (p.Gln382Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV002871669] Chr1:16997070 [GRCh38]
Chr1:17323565 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3273C>G (p.Val1091=) single nucleotide variant Kufor-Rakeb syndrome [RCV003082072] Chr1:16986595 [GRCh38]
Chr1:17313090 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.327T>C (p.Thr109=) single nucleotide variant Kufor-Rakeb syndrome [RCV002918502] Chr1:17005034 [GRCh38]
Chr1:17331529 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.841-15G>T single nucleotide variant Kufor-Rakeb syndrome [RCV002624058] Chr1:17000327 [GRCh38]
Chr1:17326822 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2305C>T (p.Pro769Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV002917658] Chr1:16990234 [GRCh38]
Chr1:17316729 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3207G>T (p.Ala1069=) single nucleotide variant Kufor-Rakeb syndrome [RCV002700699] Chr1:16986833 [GRCh38]
Chr1:17313328 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2252-12C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002957537] Chr1:16990299 [GRCh38]
Chr1:17316794 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1564G>A (p.Gly522Ser) single nucleotide variant ATP13A2-related disorder [RCV004738667]|Inborn genetic diseases [RCV003067837]|Kufor-Rakeb syndrome [RCV003083567] Chr1:16993814 [GRCh38]
Chr1:17320309 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.374C>A (p.Ala125Glu) single nucleotide variant Kufor-Rakeb syndrome [RCV003039936] Chr1:17004795 [GRCh38]
Chr1:17331290 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2006-1G>C single nucleotide variant Kufor-Rakeb syndrome [RCV003023466] Chr1:16992130 [GRCh38]
Chr1:17318625 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.716C>T (p.Pro239Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV003041837] Chr1:17000524 [GRCh38]
Chr1:17327019 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1947C>T (p.Pro649=) single nucleotide variant Kufor-Rakeb syndrome [RCV002932741] Chr1:16992301 [GRCh38]
Chr1:17318796 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2147T>G (p.Leu716Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV002829626] Chr1:16991838 [GRCh38]
Chr1:17318333 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1195+12G>C single nucleotide variant Kufor-Rakeb syndrome [RCV002853001] Chr1:16997008 [GRCh38]
Chr1:17323503 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2862C>A (p.Ile954=) single nucleotide variant Kufor-Rakeb syndrome [RCV002872102] Chr1:16987267 [GRCh38]
Chr1:17313762 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.896G>A (p.Arg299Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV002954404] Chr1:17000257 [GRCh38]
Chr1:17326752 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1498C>T (p.Arg500Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV002928206] Chr1:16996020 [GRCh38]
Chr1:17322515 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2979G>A (p.Pro993=) single nucleotide variant Kufor-Rakeb syndrome [RCV002741554] Chr1:16987150 [GRCh38]
Chr1:17313645 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1543-11G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002602487] Chr1:16993846 [GRCh38]
Chr1:17320341 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3423C>T (p.Cys1141=) single nucleotide variant Kufor-Rakeb syndrome [RCV002600937] Chr1:16986341 [GRCh38]
Chr1:17312836 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.477+18C>A single nucleotide variant Kufor-Rakeb syndrome [RCV002811552] Chr1:17004674 [GRCh38]
Chr1:17331169 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.482G>A (p.Arg161Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV003065296] Chr1:17004407 [GRCh38]
Chr1:17330902 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1609C>T (p.Leu537=) single nucleotide variant Kufor-Rakeb syndrome [RCV002933735] Chr1:16993769 [GRCh38]
Chr1:17320264 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.347+17_347+18delinsAT indel Kufor-Rakeb syndrome [RCV002720604] Chr1:17004996..17004997 [GRCh38]
Chr1:17331491..17331492 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3502G>A (p.Glu1168Lys) single nucleotide variant Kufor-Rakeb syndrome [RCV002938640] Chr1:16986262 [GRCh38]
Chr1:17312757 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3040G>C (p.Gly1014Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV002721301] Chr1:16987089 [GRCh38]
Chr1:17313584 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.934C>T (p.Leu312=) single nucleotide variant Kufor-Rakeb syndrome [RCV003031657] Chr1:17000116 [GRCh38]
Chr1:17326611 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1093T>C (p.Cys365Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV002631488] Chr1:16997122 [GRCh38]
Chr1:17323617 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2488T>G (p.Phe830Val) single nucleotide variant Kufor-Rakeb syndrome [RCV002810541] Chr1:16989928 [GRCh38]
Chr1:17316423 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1750-14T>C single nucleotide variant Kufor-Rakeb syndrome [RCV002967150] Chr1:16992595 [GRCh38]
Chr1:17319090 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2766G>T (p.Glu922Asp) single nucleotide variant Kufor-Rakeb syndrome [RCV003086104] Chr1:16988231 [GRCh38]
Chr1:17314726 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.840+5G>A single nucleotide variant Kufor-Rakeb syndrome [RCV003062312]|not specified [RCV003994484] Chr1:17000395 [GRCh38]
Chr1:17326890 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1518G>A (p.Lys506=) single nucleotide variant Kufor-Rakeb syndrome [RCV003060638] Chr1:16996000 [GRCh38]
Chr1:17322495 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3422G>T (p.Cys1141Phe) single nucleotide variant Kufor-Rakeb syndrome [RCV002806257] Chr1:16986342 [GRCh38]
Chr1:17312837 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1378del (p.Arg460fs) deletion Kufor-Rakeb syndrome [RCV002599306] Chr1:16996140 [GRCh38]
Chr1:17322635 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.1422TGC[3] (p.Ala476_Met477insAla) microsatellite Kufor-Rakeb syndrome [RCV002599556] Chr1:16996090..16996091 [GRCh38]
Chr1:17322585..17322586 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2005+11A>G single nucleotide variant Kufor-Rakeb syndrome [RCV003061124] Chr1:16992232 [GRCh38]
Chr1:17318727 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.894C>T (p.Cys298=) single nucleotide variant Kufor-Rakeb syndrome [RCV002648098] Chr1:17000259 [GRCh38]
Chr1:17326754 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3043G>A (p.Val1015Met) single nucleotide variant Inborn genetic diseases [RCV002963494]|not provided [RCV004786862] Chr1:16987086 [GRCh38]
Chr1:17313581 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1443G>A (p.Thr481=) single nucleotide variant Kufor-Rakeb syndrome [RCV002899563] Chr1:16996075 [GRCh38]
Chr1:17322570 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2675G>A (p.Gly892Asp) single nucleotide variant Kufor-Rakeb syndrome [RCV002648128] Chr1:16988409 [GRCh38]
Chr1:17314904 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2262G>A (p.Leu754=) single nucleotide variant Kufor-Rakeb syndrome [RCV002856539] Chr1:16990277 [GRCh38]
Chr1:17316772 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1272C>A (p.His424Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV003045561] Chr1:16996420 [GRCh38]
Chr1:17322915 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.73A>G (p.Ile25Val) single nucleotide variant Kufor-Rakeb syndrome [RCV002938128] Chr1:17005716 [GRCh38]
Chr1:17332211 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1243C>A (p.Arg415=) single nucleotide variant Kufor-Rakeb syndrome [RCV003063258] Chr1:16996449 [GRCh38]
Chr1:17322944 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.*145C>T single nucleotide variant Inborn genetic diseases [RCV002808192] Chr1:16986076 [GRCh38]
Chr1:17312571 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2984C>T (p.Ala995Val) single nucleotide variant Kufor-Rakeb syndrome [RCV002895717] Chr1:16987145 [GRCh38]
Chr1:17313640 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3239C>A (p.Pro1080His) single nucleotide variant Kufor-Rakeb syndrome [RCV002988600] Chr1:16986629 [GRCh38]
Chr1:17313124 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1041A>T (p.Gly347=) single nucleotide variant Kufor-Rakeb syndrome [RCV002966445] Chr1:16997174 [GRCh38]
Chr1:17323669 [GRCh37]
Chr1:1p36.13		 likely benign|uncertain significance
NM_022089.4(ATP13A2):c.2028G>T (p.Met676Ile) single nucleotide variant Kufor-Rakeb syndrome [RCV002716172] Chr1:16992107 [GRCh38]
Chr1:17318602 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2325C>T (p.Ile775=) single nucleotide variant Kufor-Rakeb syndrome [RCV002938958] Chr1:16990214 [GRCh38]
Chr1:17316709 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2871C>T (p.Asn957=) single nucleotide variant Kufor-Rakeb syndrome [RCV003087760] Chr1:16987258 [GRCh38]
Chr1:17313753 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.165G>C (p.Trp55Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV002988737] Chr1:17005497 [GRCh38]
Chr1:17331992 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.349C>T (p.Leu117=) single nucleotide variant Kufor-Rakeb syndrome [RCV002939022] Chr1:17004820 [GRCh38]
Chr1:17331315 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.572dup (p.Arg192fs) duplication Kufor-Rakeb syndrome [RCV002899793] Chr1:17002358..17002359 [GRCh38]
Chr1:17328853..17328854 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.2867C>G (p.Thr956Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV003060151] Chr1:16987262 [GRCh38]
Chr1:17313757 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3406-13del deletion Kufor-Rakeb syndrome [RCV003063225] Chr1:16986371 [GRCh38]
Chr1:17312866 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2529+11C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002921967] Chr1:16989876 [GRCh38]
Chr1:17316371 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2593G>C (p.Glu865Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV003029377] Chr1:16989707 [GRCh38]
Chr1:17316202 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1296dup (p.Ser433fs) duplication Kufor-Rakeb syndrome [RCV002834461] Chr1:16996395..16996396 [GRCh38]
Chr1:17322890..17322891 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.348-17C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003063674] Chr1:17004838 [GRCh38]
Chr1:17331333 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2126+13C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003063355] Chr1:16991996 [GRCh38]
Chr1:17318491 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2310G>A (p.Gln770=) single nucleotide variant Kufor-Rakeb syndrome [RCV002631059] Chr1:16990229 [GRCh38]
Chr1:17316724 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1354-12G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002933667] Chr1:16996176 [GRCh38]
Chr1:17322671 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2127-13G>A single nucleotide variant Kufor-Rakeb syndrome [RCV002631833] Chr1:16991871 [GRCh38]
Chr1:17318366 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1570G>A (p.Asp524Asn) single nucleotide variant Kufor-Rakeb syndrome [RCV003065832] Chr1:16993808 [GRCh38]
Chr1:17320303 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1353+17G>T single nucleotide variant Kufor-Rakeb syndrome [RCV002811266] Chr1:16996237 [GRCh38]
Chr1:17322732 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1749+5G>C single nucleotide variant Kufor-Rakeb syndrome [RCV003048380] Chr1:16993624 [GRCh38]
Chr1:17320119 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2910CAC[2] (p.Thr973del) microsatellite Kufor-Rakeb syndrome [RCV002807081] Chr1:16987211..16987213 [GRCh38]
Chr1:17313706..17313708 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1970C>T (p.Pro657Leu) single nucleotide variant Inborn genetic diseases [RCV002812440] Chr1:16992278 [GRCh38]
Chr1:17318773 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.196C>G (p.Arg66Gly) single nucleotide variant Kufor-Rakeb syndrome [RCV003060924] Chr1:17005466 [GRCh38]
Chr1:17331961 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3448C>T (p.Arg1150Trp) single nucleotide variant Kufor-Rakeb syndrome [RCV002600739] Chr1:16986316 [GRCh38]
Chr1:17312811 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3314C>G (p.Pro1105Arg) single nucleotide variant Kufor-Rakeb syndrome [RCV002671866] Chr1:16986554 [GRCh38]
Chr1:17313049 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2178C>G (p.Asn726Lys) single nucleotide variant Kufor-Rakeb syndrome [RCV002715214] Chr1:16991807 [GRCh38]
Chr1:17318302 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1346G>A (p.Arg449Gln) single nucleotide variant Inborn genetic diseases [RCV002922563]|Kufor-Rakeb syndrome [RCV002922564]|not provided [RCV003491168] Chr1:16996261 [GRCh38]
Chr1:17322756 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2134G>C (p.Val712Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV002654546] Chr1:16991851 [GRCh38]
Chr1:17318346 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.533_536dup (p.Gln179fs) duplication Kufor-Rakeb syndrome [RCV002943346] Chr1:17004352..17004353 [GRCh38]
Chr1:17330847..17330848 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.703G>A (p.Glu235Lys) single nucleotide variant Kufor-Rakeb syndrome [RCV002633277] Chr1:17002036 [GRCh38]
Chr1:17328531 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2459C>G (p.Ser820Cys) single nucleotide variant Kufor-Rakeb syndrome [RCV003051379] Chr1:16989957 [GRCh38]
Chr1:17316452 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3247G>C (p.Val1083Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV002725595] Chr1:16986621 [GRCh38]
Chr1:17313116 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1971G>A (p.Pro657=) single nucleotide variant Kufor-Rakeb syndrome [RCV002726153] Chr1:16992277 [GRCh38]
Chr1:17318772 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1621C>T (p.Pro541Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV003068931] Chr1:16993757 [GRCh38]
Chr1:17320252 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1039+15C>G single nucleotide variant Kufor-Rakeb syndrome [RCV003052207] Chr1:16999996 [GRCh38]
Chr1:17326491 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2190G>A (p.Pro730=) single nucleotide variant Kufor-Rakeb syndrome [RCV002721468] Chr1:16991795 [GRCh38]
Chr1:17318290 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1893T>G (p.Ser631=) single nucleotide variant Kufor-Rakeb syndrome [RCV002585656] Chr1:16992355 [GRCh38]
Chr1:17318850 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3084-7C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002609860] Chr1:16986963 [GRCh38]
Chr1:17313458 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1110G>T (p.Arg370=) single nucleotide variant Kufor-Rakeb syndrome [RCV003070539] Chr1:16997105 [GRCh38]
Chr1:17323600 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1750-20C>A single nucleotide variant Kufor-Rakeb syndrome [RCV002633675] Chr1:16992601 [GRCh38]
Chr1:17319096 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2123C>T (p.Thr708Met) single nucleotide variant Inborn genetic diseases [RCV003161816]|Kufor-Rakeb syndrome [RCV003092797] Chr1:16992012 [GRCh38]
Chr1:17318507 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3439C>A (p.Arg1147Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV003069703]|not provided [RCV003491232] Chr1:16986325 [GRCh38]
Chr1:17312820 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1466G>A (p.Arg489Gln) single nucleotide variant Kufor-Rakeb syndrome [RCV003073477] Chr1:16996052 [GRCh38]
Chr1:17322547 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2126+11C>A single nucleotide variant Kufor-Rakeb syndrome [RCV003049741] Chr1:16991998 [GRCh38]
Chr1:17318493 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.58A>C (p.Thr20Pro) single nucleotide variant Kufor-Rakeb syndrome [RCV002652990] Chr1:17005731 [GRCh38]
Chr1:17332226 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1705G>A (p.Val569Met) single nucleotide variant Kufor-Rakeb syndrome [RCV002613065] Chr1:16993673 [GRCh38]
Chr1:17320168 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2835C>A (p.Phe945Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV003071799] Chr1:16988162 [GRCh38]
Chr1:17314657 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3235+19G>A single nucleotide variant Kufor-Rakeb syndrome [RCV003072255] Chr1:16986786 [GRCh38]
Chr1:17313281 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2251+20C>T single nucleotide variant Kufor-Rakeb syndrome [RCV002589419] Chr1:16991714 [GRCh38]
Chr1:17318209 [GRCh37]
Chr1:1p36.13		 benign
NM_022089.4(ATP13A2):c.271G>A (p.Glu91Lys) single nucleotide variant Kufor-Rakeb syndrome [RCV003070526]|not provided [RCV003326646] Chr1:17005391 [GRCh38]
Chr1:17331886 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.256G>A (p.Glu86Lys) single nucleotide variant Kufor-Rakeb syndrome [RCV002612433] Chr1:17005406 [GRCh38]
Chr1:17331901 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2019C>T (p.Phe673=) single nucleotide variant Kufor-Rakeb syndrome [RCV002612712] Chr1:16992116 [GRCh38]
Chr1:17318611 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3298G>A (p.Gly1100Ser) single nucleotide variant not provided [RCV004792087] Chr1:16986570 [GRCh38]
Chr1:17313065 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2966G>A (p.Arg989Gln) single nucleotide variant Inborn genetic diseases [RCV003196065] Chr1:16987163 [GRCh38]
Chr1:17313658 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.352G>A (p.Glu118Lys) single nucleotide variant not provided [RCV003143607] Chr1:17004817 [GRCh38]
Chr1:17331312 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3527C>G (p.Ala1176Gly) single nucleotide variant Inborn genetic diseases [RCV003199516] Chr1:16986237 [GRCh38]
Chr1:17312732 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1831C>G (p.Gln611Glu) single nucleotide variant Inborn genetic diseases [RCV003213540] Chr1:16992500 [GRCh38]
Chr1:17318995 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.762C>G (p.Asp254Glu) single nucleotide variant Inborn genetic diseases [RCV003213541] Chr1:17000478 [GRCh38]
Chr1:17326973 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1600C>T (p.Gln534Ter) single nucleotide variant Neurodegeneration with brain iron accumulation [RCV003226841] Chr1:16993778 [GRCh38]
Chr1:17320273 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.2097C>T (p.Pro699=) single nucleotide variant not provided [RCV003326743] Chr1:16992038 [GRCh38]
Chr1:17318533 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1306+1G>C single nucleotide variant Kufor-Rakeb syndrome [RCV003340702] Chr1:16996385 [GRCh38]
Chr1:17322880 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.2594A>G (p.Glu865Gly) single nucleotide variant Inborn genetic diseases [RCV003369919] Chr1:16989706 [GRCh38]
Chr1:17316201 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1491C>T (p.His497=) single nucleotide variant Kufor-Rakeb syndrome [RCV003782220] Chr1:16996027 [GRCh38]
Chr1:17322522 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.570T>C (p.His190=) single nucleotide variant Kufor-Rakeb syndrome [RCV003782078] Chr1:17002361 [GRCh38]
Chr1:17328856 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.*156G>A single nucleotide variant not provided [RCV003456633] Chr1:16986065 [GRCh38]
Chr1:17312560 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2006-20C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003790900] Chr1:16992149 [GRCh38]
Chr1:17318644 [GRCh37]
Chr1:1p36.13		 likely benign
GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4 copy number gain not provided [RCV003485339] Chr1:17291707..23016395 [GRCh37]
Chr1:1p36.13-36.12		 likely pathogenic
NM_022089.4(ATP13A2):c.1345C>G (p.Arg449Gly) single nucleotide variant not provided [RCV003480522] Chr1:16996262 [GRCh38]
Chr1:17322757 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
NM_022089.4(ATP13A2):c.3055G>C (p.Gly1019Arg) single nucleotide variant not provided [RCV003442656] Chr1:16987074 [GRCh38]
Chr1:17313569 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs) microsatellite ATP13A2-related disorder [RCV004550586]|Kufor-Rakeb syndrome [RCV003778207] Chr1:17000016..17000017 [GRCh38]
Chr1:17326511..17326512 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.*158T>G single nucleotide variant not provided [RCV003412811] Chr1:16986063 [GRCh38]
Chr1:17312558 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3276G>A (p.Leu1092=) single nucleotide variant not provided [RCV003412812] Chr1:16986592 [GRCh38]
Chr1:17313087 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1572C>T (p.Asp524=) single nucleotide variant not provided [RCV003412813] Chr1:16993806 [GRCh38]
Chr1:17320301 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.744C>T (p.Ile248=) single nucleotide variant not provided [RCV003412814] Chr1:17000496 [GRCh38]
Chr1:17326991 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3408C>T (p.Ser1136=) single nucleotide variant Kufor-Rakeb syndrome [RCV003805163] Chr1:16986356 [GRCh38]
Chr1:17312851 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1276A>G (p.Met426Val) single nucleotide variant Kufor-Rakeb syndrome [RCV003786829] Chr1:16996416 [GRCh38]
Chr1:17322911 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.558-6C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003807830] Chr1:17002379 [GRCh38]
Chr1:17328874 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3405+19C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003782237] Chr1:16986444 [GRCh38]
Chr1:17312939 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1543-14C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003783526] Chr1:16993849 [GRCh38]
Chr1:17320344 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2006-9C>A single nucleotide variant Kufor-Rakeb syndrome [RCV003807539] Chr1:16992138 [GRCh38]
Chr1:17318633 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.43G>A (p.Gly15Ser) single nucleotide variant Kufor-Rakeb syndrome [RCV003786470] Chr1:17005746 [GRCh38]
Chr1:17332241 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3126G>C (p.Leu1042=) single nucleotide variant Kufor-Rakeb syndrome [RCV003807734] Chr1:16986914 [GRCh38]
Chr1:17313409 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3083+18dup duplication Kufor-Rakeb syndrome [RCV003791887] Chr1:16987027..16987028 [GRCh38]
Chr1:17313522..17313523 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3013C>T (p.Leu1005=) single nucleotide variant Kufor-Rakeb syndrome [RCV003789370] Chr1:16987116 [GRCh38]
Chr1:17313611 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3039C>T (p.Thr1013=) single nucleotide variant Kufor-Rakeb syndrome [RCV003783030] Chr1:16987090 [GRCh38]
Chr1:17313585 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1932del (p.Ala646fs) deletion Kufor-Rakeb syndrome [RCV003783169] Chr1:16992316 [GRCh38]
Chr1:17318811 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.103G>A (p.Val35Met) single nucleotide variant Kufor-Rakeb syndrome [RCV003783227] Chr1:17005686 [GRCh38]
Chr1:17332181 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.636-12C>A single nucleotide variant Kufor-Rakeb syndrome [RCV003796122] Chr1:17002115 [GRCh38]
Chr1:17328610 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2609+19G>T single nucleotide variant Kufor-Rakeb syndrome [RCV003780263] Chr1:16989672 [GRCh38]
Chr1:17316167 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.477+12A>G single nucleotide variant Kufor-Rakeb syndrome [RCV003807520] Chr1:17004680 [GRCh38]
Chr1:17331175 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.908-18T>A single nucleotide variant Kufor-Rakeb syndrome [RCV003796294] Chr1:17000160 [GRCh38]
Chr1:17326655 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1750-11C>A single nucleotide variant Kufor-Rakeb syndrome [RCV003780937] Chr1:16992592 [GRCh38]
Chr1:17319087 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1543-18C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003786043] Chr1:16993853 [GRCh38]
Chr1:17320348 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3525C>T (p.Pro1175=) single nucleotide variant Kufor-Rakeb syndrome [RCV003804630] Chr1:16986239 [GRCh38]
Chr1:17312734 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1887C>T (p.Pro629=) single nucleotide variant Kufor-Rakeb syndrome [RCV003788375] Chr1:16992361 [GRCh38]
Chr1:17318856 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2429C>T (p.Ala810Val) single nucleotide variant Kufor-Rakeb syndrome [RCV003806745] Chr1:16989987 [GRCh38]
Chr1:17316482 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.66G>A (p.Gly22=) single nucleotide variant Kufor-Rakeb syndrome [RCV003796706] Chr1:17005723 [GRCh38]
Chr1:17332218 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3256G>A (p.Ala1086Thr) single nucleotide variant Kufor-Rakeb syndrome [RCV003780085] Chr1:16986612 [GRCh38]
Chr1:17313107 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.217del (p.Val73fs) deletion Kufor-Rakeb syndrome [RCV003782265] Chr1:17005445 [GRCh38]
Chr1:17331940 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.1125C>T (p.Phe375=) single nucleotide variant Kufor-Rakeb syndrome [RCV003787768] Chr1:16997090 [GRCh38]
Chr1:17323585 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1749+8G>T single nucleotide variant Kufor-Rakeb syndrome [RCV003786954] Chr1:16993621 [GRCh38]
Chr1:17320116 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.289-12T>C single nucleotide variant Kufor-Rakeb syndrome [RCV003789428] Chr1:17005084 [GRCh38]
Chr1:17331579 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2005+10_2005+13dup duplication Kufor-Rakeb syndrome [RCV003780697] Chr1:16992229..16992230 [GRCh38]
Chr1:17318724..17318725 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.106-20C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003786452] Chr1:17005576 [GRCh38]
Chr1:17332071 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1662A>G (p.Ala554=) single nucleotide variant Kufor-Rakeb syndrome [RCV003788816] Chr1:16993716 [GRCh38]
Chr1:17320211 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.900A>C (p.Pro300=) single nucleotide variant Kufor-Rakeb syndrome [RCV003782899]|not provided [RCV003885374] Chr1:17000253 [GRCh38]
Chr1:17326748 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2379G>A (p.Pro793=) single nucleotide variant Kufor-Rakeb syndrome [RCV003804468] Chr1:16990160 [GRCh38]
Chr1:17316655 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.483G>A (p.Arg161=) single nucleotide variant Kufor-Rakeb syndrome [RCV003786275] Chr1:17004406 [GRCh38]
Chr1:17330901 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.888C>T (p.Cys296=) single nucleotide variant Kufor-Rakeb syndrome [RCV003793597] Chr1:17000265 [GRCh38]
Chr1:17326760 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2413-1G>C single nucleotide variant Kufor-Rakeb syndrome [RCV003788419] Chr1:16990004 [GRCh38]
Chr1:17316499 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.908-19C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003806532] Chr1:17000161 [GRCh38]
Chr1:17326656 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1701C>T (p.Thr567=) single nucleotide variant Kufor-Rakeb syndrome [RCV003807199] Chr1:16993677 [GRCh38]
Chr1:17320172 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3501C>G (p.Ala1167=) single nucleotide variant Kufor-Rakeb syndrome [RCV003779492] Chr1:16986263 [GRCh38]
Chr1:17312758 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2238C>T (p.Ala746=) single nucleotide variant Kufor-Rakeb syndrome [RCV003780423] Chr1:16991747 [GRCh38]
Chr1:17318242 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.657C>T (p.Asn219=) single nucleotide variant Kufor-Rakeb syndrome [RCV003787197] Chr1:17002082 [GRCh38]
Chr1:17328577 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.347+12_347+13del deletion Kufor-Rakeb syndrome [RCV003782153] Chr1:17005001..17005002 [GRCh38]
Chr1:17331496..17331497 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.635+20G>A single nucleotide variant Kufor-Rakeb syndrome [RCV003788708] Chr1:17002276 [GRCh38]
Chr1:17328771 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2991C>T (p.Leu997=) single nucleotide variant Kufor-Rakeb syndrome [RCV003793386] Chr1:16987138 [GRCh38]
Chr1:17313633 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2006-7dup duplication Kufor-Rakeb syndrome [RCV003793391] Chr1:16992135..16992136 [GRCh38]
Chr1:17318630..17318631 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2251+19G>A single nucleotide variant Kufor-Rakeb syndrome [RCV003790691] Chr1:16991715 [GRCh38]
Chr1:17318210 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2652G>A (p.Gly884=) single nucleotide variant Kufor-Rakeb syndrome [RCV003792590] Chr1:16988432 [GRCh38]
Chr1:17314927 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.10+13T>C single nucleotide variant Kufor-Rakeb syndrome [RCV003793450] Chr1:17011716 [GRCh38]
Chr1:17338211 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.102C>T (p.Ser34=) single nucleotide variant Kufor-Rakeb syndrome [RCV003783867] Chr1:17005687 [GRCh38]
Chr1:17332182 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3414A>G (p.Leu1138=) single nucleotide variant Kufor-Rakeb syndrome [RCV003780188] Chr1:16986350 [GRCh38]
Chr1:17312845 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2548G>C (p.Val850Leu) single nucleotide variant Kufor-Rakeb syndrome [RCV003812688] Chr1:16989752 [GRCh38]
Chr1:17316247 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.706-17T>C single nucleotide variant Kufor-Rakeb syndrome [RCV003809139] Chr1:17000551 [GRCh38]
Chr1:17327046 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3235+11G>C single nucleotide variant Kufor-Rakeb syndrome [RCV003801340] Chr1:16986794 [GRCh38]
Chr1:17313289 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1354-11C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003799707] Chr1:16996175 [GRCh38]
Chr1:17322670 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.288+17G>T single nucleotide variant Kufor-Rakeb syndrome [RCV003798716] Chr1:17005357 [GRCh38]
Chr1:17331852 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1380G>C (p.Arg460=) single nucleotide variant Kufor-Rakeb syndrome [RCV003801841] Chr1:16996138 [GRCh38]
Chr1:17322633 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.557+1G>T single nucleotide variant Kufor-Rakeb syndrome [RCV003817903] Chr1:17004331 [GRCh38]
Chr1:17330826 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.558-15C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003813270] Chr1:17002388 [GRCh38]
Chr1:17328883 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3236-19_3236-16del microsatellite Kufor-Rakeb syndrome [RCV003815301] Chr1:16986648..16986651 [GRCh38]
Chr1:17313143..17313146 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1196-17C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003798773] Chr1:16996513 [GRCh38]
Chr1:17323008 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1281G>A (p.Lys427=) single nucleotide variant Kufor-Rakeb syndrome [RCV003801237] Chr1:16996411 [GRCh38]
Chr1:17322906 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1989C>G (p.Leu663=) single nucleotide variant Kufor-Rakeb syndrome [RCV003809995] Chr1:16992259 [GRCh38]
Chr1:17318754 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2762+18C>T single nucleotide variant Kufor-Rakeb syndrome [RCV003802850] Chr1:16988304 [GRCh38]
Chr1:17314799 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3435C>T (p.Cys1145=) single nucleotide variant Kufor-Rakeb syndrome [RCV003803212] Chr1:16986329 [GRCh38]
Chr1:17312824 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.853C>T (p.Leu285=) single nucleotide variant Kufor-Rakeb syndrome [RCV003802942] Chr1:17000300 [GRCh38]
Chr1:17326795 [GRCh37]
Chr1:1p36.13		 likely benign
GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1 copy number loss not specified [RCV003986551] Chr1:16194137..20561434 [GRCh37]
Chr1:1p36.21-36.12		 pathogenic
NM_022089.4(ATP13A2):c.1353_1353+1del deletion Kufor-Rakeb syndrome [RCV003803387] Chr1:16996253..16996254 [GRCh38]
Chr1:17322748..17322749 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.1040-12G>A single nucleotide variant Kufor-Rakeb syndrome [RCV003803503] Chr1:16997187 [GRCh38]
Chr1:17323682 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2381T>A (p.Met794Lys) single nucleotide variant Inborn genetic diseases [RCV004425766] Chr1:16990158 [GRCh38]
Chr1:17316653 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.467G>C (p.Ser156Thr) single nucleotide variant Inborn genetic diseases [RCV004425773] Chr1:17004702 [GRCh38]
Chr1:17331197 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1034T>C (p.Leu345Pro) single nucleotide variant Kufor-Rakeb syndrome [RCV003993604] Chr1:17000016 [GRCh38]
Chr1:17326511 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1688G>T (p.Arg563Leu) single nucleotide variant Inborn genetic diseases [RCV004425760] Chr1:16993690 [GRCh38]
Chr1:17320185 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2487del (p.Phe830fs) deletion Inborn genetic diseases [RCV004425768] Chr1:16989929 [GRCh38]
Chr1:17316424 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.2968G>A (p.Val990Met) single nucleotide variant Inborn genetic diseases [RCV004425770] Chr1:16987161 [GRCh38]
Chr1:17313656 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1822T>G (p.Trp608Gly) single nucleotide variant Inborn genetic diseases [RCV004425761] Chr1:16992509 [GRCh38]
Chr1:17319004 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1999G>A (p.Glu667Lys) single nucleotide variant Inborn genetic diseases [RCV004425763] Chr1:16992249 [GRCh38]
Chr1:17318744 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2057G>A (p.Arg686His) single nucleotide variant Inborn genetic diseases [RCV004425764] Chr1:16992078 [GRCh38]
Chr1:17318573 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2742G>T (p.Glu914Asp) single nucleotide variant Inborn genetic diseases [RCV004425769] Chr1:16988342 [GRCh38]
Chr1:17314837 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3537G>A (p.Leu1179=) single nucleotide variant Inborn genetic diseases [RCV004425772] Chr1:16986227 [GRCh38]
Chr1:17312722 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.934C>G (p.Leu312Val) single nucleotide variant Inborn genetic diseases [RCV004425774] Chr1:17000116 [GRCh38]
Chr1:17326611 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.*146C>T single nucleotide variant ATP13A2-related disorder [RCV004554511] Chr1:16986075 [GRCh38]
Chr1:17312570 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1750-4C>T single nucleotide variant ATP13A2-related disorder [RCV004548842] Chr1:16992585 [GRCh38]
Chr1:17319080 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.*41T>C single nucleotide variant ATP13A2-related disorder [RCV004554523] Chr1:16986180 [GRCh38]
Chr1:17312675 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.*49A>G single nucleotide variant not provided [RCV003887447] Chr1:16986172 [GRCh38]
Chr1:17312667 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3236-7C>T single nucleotide variant ATP13A2-related disorder [RCV004552710] Chr1:16986639 [GRCh38]
Chr1:17313134 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1353+5G>A single nucleotide variant ATP13A2-related disorder [RCV004550817] Chr1:16996249 [GRCh38]
Chr1:17322744 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.2303C>G (p.Ala768Gly) single nucleotide variant Inborn genetic diseases [RCV004425765] Chr1:16990236 [GRCh38]
Chr1:17316731 [GRCh37]
Chr1:1p36.13		 likely benign
GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2 copy number loss not provided [RCV004577440] Chr1:4436802..22782007 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NM_022089.4(ATP13A2):c.575G>A (p.Arg192His) single nucleotide variant Inborn genetic diseases [RCV004687565] Chr1:17002356 [GRCh38]
Chr1:17328851 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.115G>A (p.Gly39Ser) single nucleotide variant Inborn genetic diseases [RCV004682551] Chr1:17005547 [GRCh38]
Chr1:17332042 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1922T>C (p.Val641Ala) single nucleotide variant Inborn genetic diseases [RCV004682561] Chr1:16992326 [GRCh38]
Chr1:17318821 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3519G>A (p.Pro1173=) single nucleotide variant Inborn genetic diseases [RCV004682577] Chr1:16986245 [GRCh38]
Chr1:17312740 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3217C>T (p.Arg1073Trp) single nucleotide variant Inborn genetic diseases [RCV004682583] Chr1:16986823 [GRCh38]
Chr1:17313318 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.352G>T (p.Glu118Ter) single nucleotide variant Neurodegeneration with brain iron accumulation [RCV004691004] Chr1:17004817 [GRCh38]
Chr1:17331312 [GRCh37]
Chr1:1p36.13		 pathogenic
NM_022089.4(ATP13A2):c.2007G>A (p.Val669=) single nucleotide variant not provided [RCV004811363] Chr1:16992128 [GRCh38]
Chr1:17318623 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.1428C>T (p.Ala476=) single nucleotide variant ATP13A2-related disorder [RCV004737685] Chr1:16996090 [GRCh38]
Chr1:17322585 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.*31A>G single nucleotide variant ATP13A2-related disorder [RCV004736956] Chr1:16986190 [GRCh38]
Chr1:17312685 [GRCh37]
Chr1:1p36.13		 likely benign
NM_022089.4(ATP13A2):c.3083+6T>G single nucleotide variant not specified [RCV004702798] Chr1:16987040 [GRCh38]
Chr1:17313535 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1424C>T (p.Ala475Val) single nucleotide variant Inborn genetic diseases [RCV004971673] Chr1:16996094 [GRCh38]
Chr1:17322589 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.331G>A (p.Ala111Thr) single nucleotide variant Inborn genetic diseases [RCV004971680] Chr1:17005030 [GRCh38]
Chr1:17331525 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2617G>A (p.Val873Met) single nucleotide variant Inborn genetic diseases [RCV004971682] Chr1:16988467 [GRCh38]
Chr1:17314962 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.3083+1G>C single nucleotide variant Kufor-Rakeb syndrome [RCV005004724] Chr1:16987045 [GRCh38]
Chr1:17313540 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.2858C>A (p.Thr953Lys) single nucleotide variant Inborn genetic diseases [RCV004971674] Chr1:16988139 [GRCh38]
Chr1:17314634 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2233C>T (p.Arg745Cys) single nucleotide variant Inborn genetic diseases [RCV004971675] Chr1:16991752 [GRCh38]
Chr1:17318247 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2042C>T (p.Thr681Ile) single nucleotide variant Inborn genetic diseases [RCV004971677] Chr1:16992093 [GRCh38]
Chr1:17318588 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.785G>T (p.Cys262Phe) single nucleotide variant Inborn genetic diseases [RCV004971678] Chr1:17000455 [GRCh38]
Chr1:17326950 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1882T>G (p.Phe628Val) single nucleotide variant Inborn genetic diseases [RCV004971681] Chr1:16992366 [GRCh38]
Chr1:17318861 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.2609+1G>C single nucleotide variant Kufor-Rakeb syndrome [RCV005006737] Chr1:16989690 [GRCh38]
Chr1:17316185 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.1040-1G>A single nucleotide variant Kufor-Rakeb syndrome [RCV005006742] Chr1:16997176 [GRCh38]
Chr1:17323671 [GRCh37]
Chr1:1p36.13		 likely pathogenic
NM_022089.4(ATP13A2):c.1816C>T (p.Pro606Ser) single nucleotide variant Inborn genetic diseases [RCV004971676] Chr1:16992515 [GRCh38]
Chr1:17319010 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_022089.4(ATP13A2):c.1838A>G (p.Gln613Arg) single nucleotide variant Inborn genetic diseases [RCV004971679] Chr1:16992493 [GRCh38]
Chr1:17318988 [GRCh37]
Chr1:1p36.13		 uncertain significance
miRNA Target Status (No longer updated)

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
597265881GWAS1361955_HBMI-adjusted waist circumference QTL GWAS1361955 (human)1e-08body size trait (VT:0100005)11699946016999461Human
596950036GWAS1069555_HVaricose veins QTL GWAS1069555 (human)7e-10Varicose veins11700518117005182Human
597265880GWAS1361954_HBMI-adjusted waist circumference QTL GWAS1361954 (human)2e-13body size trait (VT:0100005)11698820716988208Human
597432350GWAS1528424_Hprotein measurement QTL GWAS1528424 (human)2e-83protein measurement11698715916987160Human
597123860GWAS1219934_Hblood protein measurement QTL GWAS1219934 (human)3e-22blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)11698893016988931Human
597169499GWAS1265573_HVaricose veins QTL GWAS1265573 (human)8e-09Varicose veins11700518117005182Human
597045650GWAS1141724_Hhemoglobin measurement QTL GWAS1141724 (human)2e-09hemoglobin measurementhemoglobin measurement (CMO:0000508)11698624816986249Human
597115167GWAS1211241_Hintraocular pressure measurement QTL GWAS1211241 (human)4e-08intraocular pressure measurement11699279216992793Human
597169168GWAS1265242_HBMI-adjusted hip circumference QTL GWAS1265242 (human)3e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)11701010017010101Human
597241488GWAS1337562_HBMI-adjusted waist circumference QTL GWAS1337562 (human)3e-14body size trait (VT:0100005)11700093417000935Human
597169169GWAS1265243_HBMI-adjusted hip circumference QTL GWAS1265243 (human)4e-20BMI-adjusted hip circumferencehip circumference (CMO:0000014)11700518117005182Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
597068441GWAS1164515_HBMI-adjusted waist circumference QTL GWAS1164515 (human)4e-08body size trait (VT:0100005)11698893016988931Human
597265878GWAS1361952_HBMI-adjusted waist circumference QTL GWAS1361952 (human)1e-26body size trait (VT:0100005)11700093417000935Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
597136134GWAS1232208_Hneuroimaging measurement QTL GWAS1232208 (human)6e-14neuroimaging measurement11698893016988931Human
597312969GWAS1409043_Hcortical thickness QTL GWAS1409043 (human)3e-13cortical thickness11700170517001706Human
597064517GWAS1160591_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS1160591 (human)7e-10wellness/fitness trait (VT:1000152)voluntary body movement measurement (CMO:0000954)11700518117005182Human
597169166GWAS1265240_HBMI-adjusted hip circumference QTL GWAS1265240 (human)4e-12BMI-adjusted hip circumferencehip circumference (CMO:0000014)11699279216992793Human
407302161GWAS951137_HBMI-adjusted waist circumference QTL GWAS951137 (human)2e-13body size trait (VT:0100005)11699677316996774Human
597254785GWAS1350859_HBMI-adjusted waist circumference QTL GWAS1350859 (human)3e-18body size trait (VT:0100005)11698893016988931Human
597291393GWAS1387467_HBMI-adjusted waist-hip ratio QTL GWAS1387467 (human)4e-09body size trait (VT:0100005)11700093417000935Human
597265729GWAS1361803_HBMI-adjusted hip circumference QTL GWAS1361803 (human)7e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)11700975817009759Human
407131934GWAS780910_HBMI-adjusted hip circumference QTL GWAS780910 (human)4e-18BMI-adjusted hip circumferencehip circumference (CMO:0000014)11700170517001706Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
597254788GWAS1350862_HBMI-adjusted waist circumference QTL GWAS1350862 (human)2e-09body size trait (VT:0100005)11701010017010101Human
597065143GWAS1161217_HBMI-adjusted waist circumference QTL GWAS1161217 (human)4e-10body size trait (VT:0100005)11700518117005182Human
597091507GWAS1187581_HBMI-adjusted hip circumference QTL GWAS1187581 (human)7e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)11700170517001706Human
597430644GWAS1526718_Hprotein measurement QTL GWAS1526718 (human)3e-82protein measurement11698715916987160Human
407133358GWAS782334_HBMI-adjusted hip circumference QTL GWAS782334 (human)4e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)11700170517001706Human
597317809GWAS1413883_Hbody surface area QTL GWAS1413883 (human)5e-15body surface area11698893016988931Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human
597070587GWAS1166661_HBMI-adjusted hip circumference QTL GWAS1166661 (human)2e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)11698893016988931Human
597326901GWAS1422975_Hbody mass index QTL GWAS1422975 (human)2e-10body mass indexbody mass index (BMI) (CMO:0000105)11699251616992517Human
597130040GWAS1226114_Hcortical thickness QTL GWAS1226114 (human)1e-13cortical thickness11700170517001706Human
597241768GWAS1337842_Hvital capacity QTL GWAS1337842 (human)0.0000002vital capacity11700093417000935Human
407301877GWAS950853_HBMI-adjusted waist circumference QTL GWAS950853 (human)2e-09body size trait (VT:0100005)11699748316997484Human
597138468GWAS1234542_Hvital capacity QTL GWAS1234542 (human)1e-08vital capacity11700518117005182Human
597168175GWAS1264249_Hbody mass index QTL GWAS1264249 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)11698624816986249Human
597340589GWAS1436663_Hsexual dimorphism measurement QTL GWAS1436663 (human)6e-15sexual dimorphism measurement11698893016988931Human
597183215GWAS1279289_Hmicrofibrillar-associated protein 2 measurement QTL GWAS1279289 (human)2e-180microfibrillar-associated protein 2 measurement11698893016988931Human
597190639GWAS1286713_Hsexual dimorphism measurement QTL GWAS1286713 (human)2e-09sexual dimorphism measurement11700518117005182Human
597182817GWAS1278891_Hmicrofibrillar-associated protein 2 measurement QTL GWAS1278891 (human)5e-263microfibrillar-associated protein 2 measurement11698893016988931Human
597029999GWAS1126073_Hbody mass index QTL GWAS1126073 (human)3e-10body mass indexbody mass index (BMI) (CMO:0000105)11699251616992517Human
596957353GWAS1076872_Hcortical surface area measurement QTL GWAS1076872 (human)1e-17cortical surface area measurement11698893016988931Human
597261479GWAS1357553_HBMI-adjusted hip circumference QTL GWAS1357553 (human)2e-25BMI-adjusted hip circumferencehip circumference (CMO:0000014)11698893016988931Human

Markers in Region
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 Map141.92UniSTS
Marshfield Genetic Map141.92RGD
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1950 465 2270 7305 6471 53 3734 1 852 1744 1617 175 1

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
  XM_047416537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC270554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  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
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY024349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000326735   ⟹   ENSP00000327214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,985,958 - 17,011,928 (-)Ensembl
Ensembl Acc Id: ENST00000341676   ⟹   ENSP00000341115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,985,958 - 17,011,915 (-)Ensembl
Ensembl Acc Id: ENST00000452699   ⟹   ENSP00000413307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,985,958 - 17,011,928 (-)Ensembl
Ensembl Acc Id: ENST00000463860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,995,487 - 17,000,847 (-)Ensembl
Ensembl Acc Id: ENST00000466561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,985,959 - 16,991,858 (-)Ensembl
Ensembl Acc Id: ENST00000502418   ⟹   ENSP00000423065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,985,981 - 16,990,003 (-)Ensembl
Ensembl Acc Id: ENST00000502860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,995,859 - 17,000,291 (-)Ensembl
Ensembl Acc Id: ENST00000503552   ⟹   ENSP00000421126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,990,175 - 16,996,283 (-)Ensembl
Ensembl Acc Id: ENST00000506174   ⟹   ENSP00000424393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,996,087 - 17,000,312 (-)Ensembl
Ensembl Acc Id: ENST00000508222   ⟹   ENSP00000422227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl117,000,283 - 17,005,395 (-)Ensembl
Ensembl Acc Id: ENST00000509392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,996,034 - 16,996,694 (-)Ensembl
Ensembl Acc Id: ENST00000509619   ⟹   ENSP00000422668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl117,002,320 - 17,005,765 (-)Ensembl
Ensembl Acc Id: ENST00000510069   ⟹   ENSP00000424313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl117,000,011 - 17,005,714 (-)Ensembl
Ensembl Acc Id: ENST00000511957   ⟹   ENSP00000427241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl117,000,269 - 17,005,072 (-)Ensembl
Ensembl Acc Id: ENST00000617114   ⟹   ENSP00000478781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)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
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)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
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245810   ⟹   XP_005245867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
GRCh37117,312,453 - 17,338,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245811   ⟹   XP_005245868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
GRCh37117,312,453 - 17,338,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245812   ⟹   XP_005245869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
GRCh37117,312,453 - 17,338,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245815   ⟹   XP_005245872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
GRCh37117,312,453 - 17,338,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710512   ⟹   XP_006710575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710513   ⟹   XP_006710576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541128   ⟹   XP_011539430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541129   ⟹   XP_011539431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000844   ⟹   XP_016856333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000845   ⟹   XP_016856334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000846   ⟹   XP_016856335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000847   ⟹   XP_016856336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000848   ⟹   XP_016856337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000849   ⟹   XP_016856338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000850   ⟹   XP_016856339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047416537   ⟹   XP_047272493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416538   ⟹   XP_047272494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416539   ⟹   XP_047272495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416542   ⟹   XP_047272498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416544   ⟹   XP_047272500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416546   ⟹   XP_047272502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416547   ⟹   XP_047272503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416548   ⟹   XP_047272504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416549   ⟹   XP_047272505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416550   ⟹   XP_047272506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416551   ⟹   XP_047272507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416553   ⟹   XP_047272509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416554   ⟹   XP_047272510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416556   ⟹   XP_047272512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416560   ⟹   XP_047272516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416562   ⟹   XP_047272518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416563   ⟹   XP_047272519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416564   ⟹   XP_047272520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416565   ⟹   XP_047272521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416566   ⟹   XP_047272522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416567   ⟹   XP_047272523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416568   ⟹   XP_047272524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416569   ⟹   XP_047272525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416570   ⟹   XP_047272526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_047416571   ⟹   XP_047272527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,985,958 - 17,011,928 (-)NCBI
RefSeq Acc Id: XM_054335629   ⟹   XP_054191604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335630   ⟹   XP_054191605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335631   ⟹   XP_054191606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335632   ⟹   XP_054191607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335633   ⟹   XP_054191608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335634   ⟹   XP_054191609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335635   ⟹   XP_054191610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335636   ⟹   XP_054191611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335637   ⟹   XP_054191612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335638   ⟹   XP_054191613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335639   ⟹   XP_054191614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335640   ⟹   XP_054191615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335641   ⟹   XP_054191616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335642   ⟹   XP_054191617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335643   ⟹   XP_054191618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335644   ⟹   XP_054191619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335645   ⟹   XP_054191620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335646   ⟹   XP_054191621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335647   ⟹   XP_054191622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335648   ⟹   XP_054191623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335649   ⟹   XP_054191624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335650   ⟹   XP_054191625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335651   ⟹   XP_054191626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335652   ⟹   XP_054191627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335653   ⟹   XP_054191628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335654   ⟹   XP_054191629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335655   ⟹   XP_054191630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335656   ⟹   XP_054191631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335657   ⟹   XP_054191632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335658   ⟹   XP_054191633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335659   ⟹   XP_054191634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335660   ⟹   XP_054191635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335661   ⟹   XP_054191636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335662   ⟹   XP_054191637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335663   ⟹   XP_054191638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335664   ⟹   XP_054191639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335665   ⟹   XP_054191640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335666   ⟹   XP_054191641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335667   ⟹   XP_054191642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
RefSeq Acc Id: XM_054335668   ⟹   XP_054191643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,796,381 - 16,822,349 (-)NCBI
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  
  XP_047272493 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272494 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272495 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272498 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272500 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272502 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272503 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272504 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272505 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272506 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272507 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272509 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272510 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272512 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272516 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272518 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272519 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272520 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272521 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272522 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272523 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272524 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272525 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272526 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272527 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188739 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188740 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188741 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188742 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188743 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188744 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188745 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188746 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188747 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188748 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188749 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188750 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188751 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188752 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188753 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188754 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188755 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188756 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188757 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188758 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188759 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188760 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188761 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188762 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188763 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188764 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188765 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188766 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188767 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188768 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188769 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188770 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188771 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188772 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188773 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188774 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188775 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188776 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188777 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188778 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191604 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191605 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191606 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191607 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191608 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191609 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191610 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191611 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191612 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191613 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191614 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191615 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191616 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191617 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191618 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191619 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191620 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191621 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191622 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191623 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191624 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191625 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191626 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191627 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191628 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191629 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191630 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191631 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191632 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191633 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191634 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191635 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191636 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191637 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191638 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191639 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191640 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191641 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191642 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191643 (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  
Ensembl Protein ENSP00000327214
  ENSP00000327214.8
  ENSP00000341115
  ENSP00000341115.5
  ENSP00000413307
  ENSP00000413307.1
  ENSP00000421126.1
  ENSP00000422227.1
  ENSP00000422668.1
  ENSP00000423065.1
  ENSP00000424313.1
  ENSP00000424393.1
  ENSP00000427241.1
GenBank Protein Q9NQ11 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001135446   ⟸   NM_001141974
- Peptide Label: isoform 3
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001135445   ⟸   NM_001141973
- Peptide Label: isoform 2
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_071372   ⟸   NM_022089
- Peptide Label: isoform 1
- UniProtKB: Q5JXY2 (UniProtKB/Swiss-Prot),   Q5JXY1 (UniProtKB/Swiss-Prot),   O75700 (UniProtKB/Swiss-Prot),   Q6S9Z9 (UniProtKB/Swiss-Prot),   Q9NQ11 (UniProtKB/Swiss-Prot),   Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005245868   ⟸   XM_005245811
- Peptide Label: isoform X2
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005245867   ⟸   XM_005245810
- Peptide Label: isoform X1
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005245869   ⟸   XM_005245812
- Peptide Label: isoform X6
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005245872   ⟸   XM_005245815
- Peptide Label: isoform X23
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710575   ⟸   XM_006710512
- Peptide Label: isoform X4
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710576   ⟸   XM_006710513
- Peptide Label: isoform X9
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539430   ⟸   XM_011541128
- Peptide Label: isoform X3
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539431   ⟸   XM_011541129
- Peptide Label: isoform X31
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856334   ⟸   XM_017000845
- Peptide Label: isoform X13
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856335   ⟸   XM_017000846
- Peptide Label: isoform X19
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856338   ⟸   XM_017000849
- Peptide Label: isoform X28
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856336   ⟸   XM_017000847
- Peptide Label: isoform X22
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856333   ⟸   XM_017000844
- Peptide Label: isoform X12
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856339   ⟸   XM_017000850
- Peptide Label: isoform X35
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856337   ⟸   XM_017000848
- Peptide Label: isoform X26
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000423065   ⟸   ENST00000502418
Ensembl Acc Id: ENSP00000421126   ⟸   ENST00000503552
Ensembl Acc Id: ENSP00000413307   ⟸   ENST00000452699
Ensembl Acc Id: ENSP00000424393   ⟸   ENST00000506174
Ensembl Acc Id: ENSP00000422227   ⟸   ENST00000508222
Ensembl Acc Id: ENSP00000422668   ⟸   ENST00000509619
Ensembl Acc Id: ENSP00000327214   ⟸   ENST00000326735
Ensembl Acc Id: ENSP00000424313   ⟸   ENST00000510069
Ensembl Acc Id: ENSP00000478781   ⟸   ENST00000617114
Ensembl Acc Id: ENSP00000427241   ⟸   ENST00000511957
Ensembl Acc Id: ENSP00000341115   ⟸   ENST00000341676
RefSeq Acc Id: XP_047272498   ⟸   XM_047416542
- Peptide Label: isoform X10
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272509   ⟸   XM_047416553
- Peptide Label: isoform X21
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272506   ⟸   XM_047416550
- Peptide Label: isoform X18
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272525   ⟸   XM_047416569
- Peptide Label: isoform X38
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272512   ⟸   XM_047416556
- Peptide Label: isoform X25
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272527   ⟸   XM_047416571
- Peptide Label: isoform X40
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272494   ⟸   XM_047416538
- Peptide Label: isoform X7
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272505   ⟸   XM_047416549
- Peptide Label: isoform X17
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272524   ⟸   XM_047416568
- Peptide Label: isoform X37
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272495   ⟸   XM_047416539
- Peptide Label: isoform X8
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272504   ⟸   XM_047416548
- Peptide Label: isoform X16
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272519   ⟸   XM_047416563
- Peptide Label: isoform X30
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272493   ⟸   XM_047416537
- Peptide Label: isoform X5
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272502   ⟸   XM_047416546
- Peptide Label: isoform X14
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272520   ⟸   XM_047416564
- Peptide Label: isoform X32
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272523   ⟸   XM_047416567
- Peptide Label: isoform X36
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272510   ⟸   XM_047416554
- Peptide Label: isoform X24
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272516   ⟸   XM_047416560
- Peptide Label: isoform X27
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272500   ⟸   XM_047416544
- Peptide Label: isoform X11
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272507   ⟸   XM_047416551
- Peptide Label: isoform X20
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272522   ⟸   XM_047416566
- Peptide Label: isoform X34
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272526   ⟸   XM_047416570
- Peptide Label: isoform X39
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272521   ⟸   XM_047416565
- Peptide Label: isoform X33
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272503   ⟸   XM_047416547
- Peptide Label: isoform X15
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272518   ⟸   XM_047416562
- Peptide Label: isoform X29
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191613   ⟸   XM_054335638
- Peptide Label: isoform X10
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191624   ⟸   XM_054335649
- Peptide Label: isoform X21
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191621   ⟸   XM_054335646
- Peptide Label: isoform X18
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191641   ⟸   XM_054335666
- Peptide Label: isoform X38
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191607   ⟸   XM_054335632
- Peptide Label: isoform X4
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191616   ⟸   XM_054335641
- Peptide Label: isoform X13
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191628   ⟸   XM_054335653
- Peptide Label: isoform X25
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191643   ⟸   XM_054335668
- Peptide Label: isoform X40
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191612   ⟸   XM_054335637
- Peptide Label: isoform X9
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191622   ⟸   XM_054335647
- Peptide Label: isoform X19
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191610   ⟸   XM_054335635
- Peptide Label: isoform X7
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191620   ⟸   XM_054335645
- Peptide Label: isoform X17
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191640   ⟸   XM_054335665
- Peptide Label: isoform X37
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191631   ⟸   XM_054335656
- Peptide Label: isoform X28
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191605   ⟸   XM_054335630
- Peptide Label: isoform X2
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191625   ⟸   XM_054335650
- Peptide Label: isoform X22
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191611   ⟸   XM_054335636
- Peptide Label: isoform X8
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191619   ⟸   XM_054335644
- Peptide Label: isoform X16
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191633   ⟸   XM_054335658
- Peptide Label: isoform X30
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191608   ⟸   XM_054335633
- Peptide Label: isoform X5
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191617   ⟸   XM_054335642
- Peptide Label: isoform X14
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191635   ⟸   XM_054335660
- Peptide Label: isoform X32
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191639   ⟸   XM_054335664
- Peptide Label: isoform X36
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191627   ⟸   XM_054335652
- Peptide Label: isoform X24
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191630   ⟸   XM_054335655
- Peptide Label: isoform X27
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191604   ⟸   XM_054335629
- Peptide Label: isoform X1
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191614   ⟸   XM_054335639
- Peptide Label: isoform X11
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191623   ⟸   XM_054335648
- Peptide Label: isoform X20
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191637   ⟸   XM_054335662
- Peptide Label: isoform X34
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191642   ⟸   XM_054335667
- Peptide Label: isoform X39
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191636   ⟸   XM_054335661
- Peptide Label: isoform X33
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191609   ⟸   XM_054335634
- Peptide Label: isoform X6
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191618   ⟸   XM_054335643
- Peptide Label: isoform X15
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191632   ⟸   XM_054335657
- Peptide Label: isoform X29
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191606   ⟸   XM_054335631
- Peptide Label: isoform X3
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191615   ⟸   XM_054335640
- Peptide Label: isoform X12
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191634   ⟸   XM_054335659
- Peptide Label: isoform X31
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191638   ⟸   XM_054335663
- Peptide Label: isoform X35
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191626   ⟸   XM_054335651
- Peptide Label: isoform X23
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191629   ⟸   XM_054335654
- Peptide Label: isoform X26
- UniProtKB: Q8N4D4 (UniProtKB/TrEMBL)
Protein Domains
P5B-type ATPase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NQ11-F1-model_v2 AlphaFold Q9NQ11 1-1180 view protein structure

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

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 Transcript ENST00000326735 ENTREZGENE
  ENST00000326735.13 UniProtKB/Swiss-Prot
  ENST00000341676 ENTREZGENE
  ENST00000341676.9 UniProtKB/Swiss-Prot
  ENST00000452699 ENTREZGENE
  ENST00000452699.5 UniProtKB/Swiss-Prot
  ENST00000502418.1 UniProtKB/TrEMBL
  ENST00000503552.1 UniProtKB/TrEMBL
  ENST00000506174.5 UniProtKB/TrEMBL
  ENST00000508222.5 UniProtKB/TrEMBL
  ENST00000509619.1 UniProtKB/TrEMBL
  ENST00000510069.5 UniProtKB/TrEMBL
  ENST00000511957.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.1110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calcium-transporting ATPase, cytoplasmic transduction domain A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calcium-transporting ATPase, transmembrane domain 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
  P5A-ATPase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P5B-type_ATPase 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 610513 OMIM
PANTHER CATION-TRANSPORTING ATPASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POLYAMINE-TRANSPORTING ATPASE 13A2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam E1-E2_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P5-ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134897221 PharmGKB
PRINTS CATATPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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
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
  O75700 ENTREZGENE
  Q5JXY1 ENTREZGENE
  Q5JXY2 ENTREZGENE
  Q6S9Z9 ENTREZGENE
  Q8N4D4 ENTREZGENE, UniProtKB/TrEMBL
  Q8NBS1_HUMAN 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  ATP13A2  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 from RGD:1350813 737654 PROVISIONAL
2016-02-16 ATP13A2  ATPase 13A2  ATP13A2  ATPase type 13A2  Symbol and/or name change 5135510 APPROVED