OCRL (OCRL inositol polyphosphate-5-phosphatase) - Rat Genome Database

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Gene: OCRL (OCRL inositol polyphosphate-5-phosphatase) Homo sapiens
Analyze
Symbol: OCRL
Name: OCRL inositol polyphosphate-5-phosphatase
RGD ID: 1350136
HGNC Page HGNC
Description: Exhibits GTPase activator activity; inositol phosphate phosphatase activity; and small GTPase binding activity. Involved in cilium assembly and regulation of GTPase activity. Localizes to several cellular components, including cytoplasmic vesicle; photoreceptor outer segment; and trans-Golgi network. Implicated in Dent disease and oculocerebrorenal syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Dent-2; inositol polyphosphate 5-phosphatase OCRL; inositol polyphosphate 5-phosphatase OCRL-1; INPP5F; LOCR; Lowe oculocerebrorenal syndrome protein; NPHL2; OCRL, inositol polyphosphate-5-phosphatase; OCRL-1; OCRL1; oculocerebrorenal syndrome of Lowe; phosphatidylinositol 3,4,5-triphosphate 5-phosphatase; phosphatidylinositol polyphosphate 5-phosphatase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX129,539,849 - 129,592,561 (+)EnsemblGRCh38hg38GRCh38
GRCh38X129,540,259 - 129,592,556 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X128,674,236 - 128,726,533 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X128,501,933 - 128,554,214 (+)NCBINCBI36hg18NCBI36
Build 34X128,399,786 - 128,452,063NCBI
CeleraX129,062,951 - 129,113,094 (+)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX118,081,643 - 118,132,141 (+)NCBIHuRef
CHM1_1X128,585,619 - 128,637,903 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
Abnormal calcium-phosphate regulating hormone level  (IAGP)
Abnormal pupil morphology  (IAGP)
Abnormal renal tubule morphology  (IAGP)
Abnormality of dental enamel  (IAGP)
Abnormality of epiphysis morphology  (IAGP)
Abnormality of the metaphysis  (IAGP)
Abnormality of the ribs  (IAGP)
Abnormality of the voice  (IAGP)
Aggressive behavior  (IAGP)
Amblyopia  (IAGP)
Aminoaciduria  (IAGP)
Anemia  (IAGP)
Anxiety  (IAGP)
Areflexia  (IAGP)
Arthritis  (IAGP)
Atelectasis  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical scarring of skin  (IAGP)
Azoospermia  (IAGP)
Benign neoplasm of the central nervous system  (IAGP)
Bicarbonaturia  (IAGP)
Buphthalmos  (IAGP)
Camptodactyly of finger  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cheilitis  (IAGP)
Childhood onset  (IAGP)
Chorioretinal dysplasia  (IAGP)
Chronic kidney disease  (IAGP)
Chronic otitis media  (IAGP)
Clonus  (IAGP)
Cognitive impairment  (IAGP)
Constipation  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Death in infancy  (IAGP)
Deep philtrum  (IAGP)
Deeply set eye  (IAGP)
Dehydration  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed puberty  (IAGP)
Dense posterior cortical cataract  (IAGP)
Dental crowding  (IAGP)
Depressivity  (IAGP)
Developmental cataract  (IAGP)
Diabetes insipidus  (IAGP)
Dysphasia  (IAGP)
EEG abnormality  (IAGP)
Elevated amniotic fluid alpha-fetoprotein  (IAGP)
Elevated maternal serum alpha-fetoprotein  (IAGP)
Elevated serum acid phosphatase  (IAGP)
Elevated serum creatine kinase  (IAGP)
Everted lower lip vermilion  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fine hair  (IAGP)
Finger swelling  (IAGP)
Flat occiput  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypopigmentation  (IAGP)
Genu valgum  (IAGP)
Gingivitis  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Glomerulopathy  (IAGP)
Hematuria  (IAGP)
Hip dislocation  (IAGP)
Hyperaldosteronism  (IAGP)
Hypercalciuria  (IAGP)
Hypercholesterolemia  (IAGP)
Hyperparathyroidism  (IAGP)
Hyperphosphaturia  (IAGP)
Hypoammonemia  (IAGP)
Hypokalemia  (IAGP)
Hyponatremia  (IAGP)
Hypophosphatemia  (IAGP)
Hypoplasia of dental enamel  (IAGP)
Increased serum lactate  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Joint contracture of the hand  (IAGP)
Joint hyperflexibility  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Joint swelling  (IAGP)
Kyphosis  (IAGP)
Lacrimation abnormality  (IAGP)
Lentiglobus  (IAGP)
Long face  (IAGP)
Long philtrum  (IAGP)
Low levels of vitamin D  (IAGP)
Low-molecular-weight proteinuria  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Malabsorption  (IAGP)
Mandibular prognathia  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Multiple renal cysts  (IAGP)
Narrow palate  (IAGP)
Neonatal hypotonia  (IAGP)
Neoplasm of the skin  (IAGP)
Nephrocalcinosis  (IAGP)
Nephrolithiasis  (IAGP)
Nystagmus  (IAGP)
Obsessive-compulsive behavior  (IAGP)
Odontogenic neoplasm  (IAGP)
Oligosacchariduria  (IAGP)
Open bite  (IAGP)
Open mouth  (IAGP)
Osteomalacia  (IAGP)
Patellar dislocation  (IAGP)
Pathologic fracture  (IAGP)
Periodontitis  (IAGP)
Periventricular cysts  (IAGP)
Platyspondyly  (IAGP)
Proteinuria  (IAGP)
Protruding ear  (IAGP)
Proximal renal tubular acidosis  (IAGP)
Proximal tubulopathy  (IAGP)
Recurrent fractures  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced number of teeth  (IAGP)
Reduced visual acuity  (IAGP)
Renal Fanconi syndrome  (IAGP)
Renal insufficiency  (IAGP)
Respiratory insufficiency  (IAGP)
Rickets  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Short stature  (IAGP)
Skin ulcer  (IAGP)
Sparse scalp hair  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Subcutaneous nodule  (IAGP)
Taurodontia  (IAGP)
Thin upper lip vermilion  (IAGP)
Thrombocytopenia  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urogenital fistula  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Wrist swelling  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1321346   PMID:1840503   PMID:1897526   PMID:7761412   PMID:8504307   PMID:9038219   PMID:9048911   PMID:9199559   PMID:9430698   PMID:9593760   PMID:9632163   PMID:9682219  
PMID:9788721   PMID:9838104   PMID:9915833   PMID:10639484   PMID:10767176   PMID:10923037   PMID:12428211   PMID:12477932   PMID:12915445   PMID:15627218   PMID:15772651   PMID:15829501  
PMID:15917292   PMID:16420990   PMID:16902405   PMID:17384968   PMID:17765681   PMID:18019214   PMID:18307981   PMID:18500547   PMID:19172411   PMID:19211563   PMID:19322201   PMID:19390221  
PMID:19536138   PMID:19546591   PMID:19582483   PMID:19700499   PMID:19795375   PMID:19940034   PMID:20043897   PMID:20133602   PMID:20301653   PMID:20629659   PMID:21031565   PMID:21225285  
PMID:21233288   PMID:21249396   PMID:21378754   PMID:21666675   PMID:21706022   PMID:21854507   PMID:21873635   PMID:21901156   PMID:21971085   PMID:22177125   PMID:22228094   PMID:22351770  
PMID:22378746   PMID:22543976   PMID:22658674   PMID:22790198   PMID:22876375   PMID:22907655   PMID:22965764   PMID:23153494   PMID:23376485   PMID:23389333   PMID:24081861   PMID:24704254  
PMID:25107275   PMID:25143588   PMID:25305077   PMID:25476789   PMID:25869668   PMID:25917196   PMID:25921289   PMID:26186194   PMID:26496610   PMID:26510499   PMID:26638075   PMID:26673895  
PMID:26725203   PMID:26824392   PMID:26972000   PMID:27059748   PMID:27107012   PMID:27173435   PMID:27174143   PMID:27398910   PMID:27708066   PMID:27766457   PMID:28473699   PMID:28514442  
PMID:28669993   PMID:28718761   PMID:28871046   PMID:29028801   PMID:29125462   PMID:29226564   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29568061   PMID:30021884   PMID:30479037  
PMID:30713423   PMID:31073040   PMID:31118240   PMID:31376231   PMID:31674016   PMID:31922591   PMID:32203420   PMID:32296183   PMID:32877691  


Genomics

Comparative Map Data
OCRL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX129,539,849 - 129,592,561 (+)EnsemblGRCh38hg38GRCh38
GRCh38X129,540,259 - 129,592,556 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X128,674,236 - 128,726,533 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X128,501,933 - 128,554,214 (+)NCBINCBI36hg18NCBI36
Build 34X128,399,786 - 128,452,063NCBI
CeleraX129,062,951 - 129,113,094 (+)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX118,081,643 - 118,132,141 (+)NCBIHuRef
CHM1_1X128,585,619 - 128,637,903 (+)NCBICHM1_1
Ocrl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X47,001,289 - 47,055,305 (+)NCBIGRCm39mm39
GRCm39 EnsemblX47,001,264 - 47,054,745 (+)Ensembl
GRCm38X47,912,418 - 47,966,428 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX47,912,387 - 47,965,868 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X45,265,633 - 45,319,045 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X44,157,083 - 44,210,495 (+)NCBImm8
CeleraX35,414,246 - 35,467,331 (+)NCBICelera
Cytogenetic MapXA4NCBI
Ocrl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X127,089,508 - 127,140,362 (+)NCBI
Rnor_6.0 EnsemblX134,742,356 - 134,792,618 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X134,742,226 - 134,793,411 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X134,814,622 - 134,865,807 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X134,271,916 - 134,322,751 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX126,040,210 - 126,091,039 (+)NCBICelera
Cytogenetic MapXq35NCBI
Ocrl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554735,431,395 - 5,482,385 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554735,429,084 - 5,482,377 (-)NCBIChiLan1.0ChiLan1.0
OCRL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X128,968,751 - 129,020,444 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX128,968,760 - 129,018,157 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X118,670,612 - 118,721,108 (+)NCBIMhudiblu_PPA_v0panPan3
OCRL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X100,760,302 - 100,817,673 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX100,757,373 - 100,831,500 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX86,935,904 - 86,989,289 (+)NCBI
ROS_Cfam_1.0X102,613,937 - 102,667,382 (+)NCBI
UMICH_Zoey_3.1X100,031,797 - 100,085,435 (+)NCBI
UNSW_CanFamBas_1.0X101,877,493 - 101,930,941 (+)NCBI
UU_Cfam_GSD_1.0X101,655,530 - 101,708,953 (+)NCBI
Ocrl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X98,975,434 - 99,033,762 (+)NCBI
SpeTri2.0NW_0049364791,955,362 - 2,011,608 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OCRL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX106,135,399 - 106,190,116 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X106,124,991 - 106,188,066 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X121,904,287 - 121,959,049 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OCRL
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X104,784,900 - 104,834,718 (+)NCBI
ChlSab1.1 EnsemblX104,785,526 - 104,837,243 (+)Ensembl
Ocrl
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247978,731,130 - 8,792,300 (+)NCBI

Position Markers
RH1710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,724,342 - 128,724,511UniSTSGRCh37
Build 36X128,552,023 - 128,552,192RGDNCBI36
CeleraX129,110,903 - 129,111,072RGD
Cytogenetic MapXq25UniSTS
HuRefX118,129,950 - 118,130,119UniSTS
GeneMap99-GB4 RH MapX306.65UniSTS
G42864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,720,435 - 128,721,352UniSTSGRCh37
Build 36X128,548,116 - 128,549,033RGDNCBI36
CeleraX129,106,996 - 129,107,913RGD
Cytogenetic MapXq25UniSTS
DXS6854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,688,898 - 128,689,006UniSTSGRCh37
Build 36X128,516,579 - 128,516,687RGDNCBI36
Cytogenetic MapXq25UniSTS
HuRefX118,094,221 - 118,094,333UniSTS
G66683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,695,393 - 128,696,392UniSTSGRCh37
Build 36X128,523,074 - 128,524,073RGDNCBI36
CeleraX129,081,947 - 129,082,946RGD
Cytogenetic MapXq25UniSTS
HuRefX118,100,765 - 118,101,764UniSTS
PMC24149P18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,691,796 - 128,692,005UniSTSGRCh37
Build 36X128,519,477 - 128,519,686RGDNCBI36
CeleraX129,078,350 - 129,078,559RGD
Cytogenetic MapXq25UniSTS
HuRefX118,097,168 - 118,097,377UniSTS
PMC24149P19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,692,864 - 128,693,045UniSTSGRCh37
Build 36X128,520,545 - 128,520,726RGDNCBI36
CeleraX129,079,418 - 129,079,599RGD
Cytogenetic MapXq25UniSTS
HuRefX118,098,236 - 118,098,417UniSTS
PMC24149P20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,715,916 - 128,716,135UniSTSGRCh37
Build 36X128,543,597 - 128,543,816RGDNCBI36
CeleraX129,102,477 - 129,102,696RGD
Cytogenetic MapXq25UniSTS
HuRefX118,121,531 - 118,121,750UniSTS
L78118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,698,969 - 128,699,071UniSTSGRCh37
Build 36X128,526,650 - 128,526,752RGDNCBI36
CeleraX129,085,523 - 129,085,625RGD
Cytogenetic MapXq25UniSTS
A006N02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,726,248 - 128,726,397UniSTSGRCh37
Build 36X128,553,929 - 128,554,078RGDNCBI36
CeleraX129,112,809 - 129,112,958RGD
Cytogenetic MapXq25UniSTS
HuRefX118,131,856 - 118,132,005UniSTS
GeneMap99-GB4 RH MapX306.65UniSTS
SHGC-16228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,681,811 - 128,682,090UniSTSGRCh37
Build 36X128,509,492 - 128,509,771RGDNCBI36
CeleraX129,070,510 - 129,070,789RGD
Cytogenetic MapXq25UniSTS
GeneMap99-G3 RH MapX3981.0UniSTS
RH79055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,726,092 - 128,726,218UniSTSGRCh37
Build 36X128,553,773 - 128,553,899RGDNCBI36
CeleraX129,112,653 - 129,112,779RGD
Cytogenetic MapXq25UniSTS
HuRefX118,131,700 - 118,131,826UniSTS
GeneMap99-GB4 RH MapX306.65UniSTS
DXS8279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,724,379 - 128,724,544UniSTSGRCh37
Build 36X128,552,060 - 128,552,225RGDNCBI36
CeleraX129,110,940 - 129,111,105RGD
Cytogenetic MapXq25UniSTS
HuRefX118,129,987 - 118,130,152UniSTS
Stanford-G3 RH MapX3843.0UniSTS
NCBI RH MapX660.5UniSTS
GeneMap99-G3 RH MapX3981.0UniSTS
L77650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,695,901 - 128,696,037UniSTSGRCh37
Build 36X128,523,582 - 128,523,718RGDNCBI36
CeleraX129,082,455 - 129,082,591RGD
Cytogenetic MapXq25UniSTS
HuRefX118,101,273 - 118,101,409UniSTS
G54523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,717,659 - 128,718,634UniSTSGRCh37
CeleraX129,104,220 - 129,105,195UniSTS
Cytogenetic MapXq25UniSTS
HuRefX118,123,274 - 118,124,249UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2440
Count of miRNA genes:801
Interacting mature miRNAs:926
Transcripts:ENST00000357121, ENST00000371113, ENST00000463271, ENST00000486673
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2373 1524 1538 442 607 287 3945 1387 2965 309 1434 1597 168 1193 2386 3
Low 66 1396 187 181 1259 178 411 810 764 110 25 14 7 1 11 402 3 1
Below cutoff 68 1 72 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI829608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S62084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S62085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U57627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U57628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z73496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000357121   ⟹   ENSP00000349635
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX129,540,275 - 129,592,561 (+)Ensembl
RefSeq Acc Id: ENST00000371113   ⟹   ENSP00000360154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX129,540,259 - 129,592,556 (+)Ensembl
RefSeq Acc Id: ENST00000463271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX129,589,589 - 129,590,633 (+)Ensembl
RefSeq Acc Id: ENST00000486673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX129,539,849 - 129,558,979 (+)Ensembl
RefSeq Acc Id: ENST00000646010   ⟹   ENSP00000494940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX129,540,748 - 129,592,537 (+)Ensembl
RefSeq Acc Id: ENST00000646914   ⟹   ENSP00000493809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX129,561,244 - 129,592,338 (+)Ensembl
RefSeq Acc Id: ENST00000647245   ⟹   ENSP00000495615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX129,557,861 - 129,592,338 (+)Ensembl
RefSeq Acc Id: NM_000276   ⟹   NP_000267
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,540,259 - 129,592,556 (+)NCBI
GRCh37X128,673,826 - 128,726,533 (+)NCBI
Build 36X128,501,933 - 128,554,214 (+)NCBI Archive
HuRefX118,081,643 - 118,132,141 (+)ENTREZGENE
CHM1_1X128,585,639 - 128,637,898 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001318784   ⟹   NP_001305713
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,540,259 - 129,592,556 (+)NCBI
CHM1_1X128,585,619 - 128,637,903 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001587   ⟹   NP_001578
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,540,259 - 129,592,556 (+)NCBI
GRCh37X128,673,826 - 128,726,533 (+)NCBI
Build 36X128,501,933 - 128,554,214 (+)NCBI Archive
HuRefX118,081,643 - 118,132,141 (+)ENTREZGENE
CHM1_1X128,585,639 - 128,637,898 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000267   ⟸   NM_000276
- Peptide Label: isoform a
- UniProtKB: Q01968 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001578   ⟸   NM_001587
- Peptide Label: isoform b
- UniProtKB: Q01968 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001305713   ⟸   NM_001318784
- Peptide Label: isoform c
- UniProtKB: Q504W7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000360154   ⟸   ENST00000371113
RefSeq Acc Id: ENSP00000494940   ⟸   ENST00000646010
RefSeq Acc Id: ENSP00000493809   ⟸   ENST00000646914
RefSeq Acc Id: ENSP00000349635   ⟸   ENST00000357121
RefSeq Acc Id: ENSP00000495615   ⟸   ENST00000647245
Protein Domains
IPPc   OCRL_clath_bd   PH   Rho-GAP

Promoters
RGD ID:6809107
Promoter ID:HG_KWN:68007
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000287254,   ENST00000371114,   OTTHUMT00000058917,   OTTHUMT00000058918,   OTTHUMT00000058919
Position:
Human AssemblyChrPosition (strand)Source
Build 36X128,501,709 - 128,502,209 (+)MPROMDB
RGD ID:13628054
Promoter ID:EPDNEW_H29302
Type:initiation region
Name:OCRL_3
Description:OCRL, inositol polyphosphate-5-phosphatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29303  EPDNEW_H29304  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,532,720 - 129,532,780EPDNEW
RGD ID:13628056
Promoter ID:EPDNEW_H29303
Type:multiple initiation site
Name:OCRL_2
Description:OCRL, inositol polyphosphate-5-phosphatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29302  EPDNEW_H29304  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,539,849 - 129,539,909EPDNEW
RGD ID:13628058
Promoter ID:EPDNEW_H29304
Type:initiation region
Name:OCRL_1
Description:OCRL, inositol polyphosphate-5-phosphatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29302  EPDNEW_H29303  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,540,271 - 129,540,331EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000276.4(OCRL):c.324C>T (p.Leu108=) single nucleotide variant not provided [RCV000548100] ChrX:129557410 [GRCh38]
ChrX:128691387 [GRCh37]
ChrX:Xq26.1
benign
OCRL, ARG476TRP single nucleotide variant Dent disease type 2 [RCV000022863] ChrX:Xq26.1 pathogenic
I526T single nucleotide variant Dent disease type 2 [RCV000022864] ChrX:Xq26.1 pathogenic
OCRL, 2-BP DEL, 166TT deletion Dent disease type 2 [RCV000022865] ChrX:Xq26.1 pathogenic
OCRL, 112-BP DEL deletion Lowe syndrome [RCV000011603] ChrX:Xq26.1 pathogenic
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) single nucleotide variant Lowe syndrome [RCV000011604] ChrX:129589905 [GRCh38]
ChrX:128723882 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) single nucleotide variant Lowe syndrome [RCV000011605]|not provided [RCV000724256] ChrX:129569296 [GRCh38]
ChrX:128703273 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.1572C>G (p.His524Gln) single nucleotide variant Lowe syndrome [RCV000011606] ChrX:129569369 [GRCh38]
ChrX:128703346 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys) single nucleotide variant Dent disease type 2 [RCV000011607] ChrX:129567333 [GRCh38]
ChrX:128701310 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) single nucleotide variant Dent disease type 2 [RCV000011608]|Lowe syndrome [RCV000059607]|not provided [RCV000727111] ChrX:129562396 [GRCh38]
ChrX:128696373 [GRCh37]
ChrX:Xq26.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2 copy number gain See cases [RCV000052446] ChrX:128395951..132383344 [GRCh38]
ChrX:127529929..131517372 [GRCh37]
ChrX:127357610..131345053 [NCBI36]
ChrX:Xq25-26.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000276.3(OCRL):c.2554T>A (p.Tyr852Asn) single nucleotide variant Malignant melanoma [RCV000073068] ChrX:129589929 [GRCh38]
ChrX:128723906 [GRCh37]
ChrX:128551587 [NCBI36]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys) single nucleotide variant Lowe syndrome [RCV000059576] ChrX:129562453 [GRCh38]
ChrX:128696430 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1060A>C (p.Asn354His) single nucleotide variant Dent disease type 2 [RCV000059577] ChrX:129562602 [GRCh38]
ChrX:128696579 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1070G>A (p.Gly357Glu) single nucleotide variant Lowe syndrome [RCV000059578] ChrX:129562612 [GRCh38]
ChrX:128696589 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile) single nucleotide variant Lowe syndrome [RCV000059579] ChrX:129562624 [GRCh38]
ChrX:128696601 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1115T>G (p.Val372Gly) single nucleotide variant Lowe syndrome [RCV000059580] ChrX:129562657 [GRCh38]
ChrX:128696634 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1117A>T (p.Asn373Tyr) single nucleotide variant Lowe syndrome [RCV000059581] ChrX:129562659 [GRCh38]
ChrX:128696636 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1121C>T (p.Ser374Phe) single nucleotide variant Lowe syndrome [RCV000059582] ChrX:129562663 [GRCh38]
ChrX:128696640 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1123C>T (p.His375Tyr) single nucleotide variant Lowe syndrome [RCV000059583] ChrX:129562665 [GRCh38]
ChrX:128696642 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1241A>G (p.His414Arg) single nucleotide variant Lowe syndrome [RCV000059584] ChrX:129562783 [GRCh38]
ChrX:128696760 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1262G>A (p.Gly421Glu) single nucleotide variant Lowe syndrome [RCV000059585] ChrX:129565789 [GRCh38]
ChrX:128699766 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1270A>G (p.Asn424Asp) single nucleotide variant Lowe syndrome [RCV000059586] ChrX:129565797 [GRCh38]
ChrX:128699774 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1351G>A (p.Asp451Asn) single nucleotide variant Lowe syndrome [RCV000059587]|not provided [RCV000174461] ChrX:129565878 [GRCh38]
ChrX:128699855 [GRCh37]
ChrX:Xq26.1
uncertain significance|not provided
NM_000276.4(OCRL):c.1352A>G (p.Asp451Gly) single nucleotide variant Lowe syndrome [RCV000059588] ChrX:129565879 [GRCh38]
ChrX:128699856 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly) single nucleotide variant Lowe syndrome [RCV000059589] ChrX:129567266 [GRCh38]
ChrX:128701243 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1388T>C (p.Phe463Ser) single nucleotide variant Lowe syndrome [RCV000059590] ChrX:129567285 [GRCh38]
ChrX:128701262 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1402G>A (p.Glu468Lys) single nucleotide variant Lowe syndrome [RCV000059591] ChrX:129567299 [GRCh38]
ChrX:128701276 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1403A>G (p.Glu468Gly) single nucleotide variant Lowe syndrome [RCV000059592] ChrX:129567300 [GRCh38]
ChrX:128701277 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp) single nucleotide variant Dent disease type 2 [RCV000059593] ChrX:129569274 [GRCh38]
ChrX:128703251 [GRCh37]
ChrX:Xq26.1
likely pathogenic|not provided
NM_000276.4(OCRL):c.1493G>A (p.Cys498Tyr) single nucleotide variant Lowe syndrome [RCV000059594] ChrX:129569290 [GRCh38]
ChrX:128703267 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1495G>C (p.Asp499His) single nucleotide variant Lowe syndrome [RCV000059595] ChrX:129569292 [GRCh38]
ChrX:128703269 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1507T>C (p.Trp503Arg) single nucleotide variant Lowe syndrome [RCV000059596] ChrX:129569304 [GRCh38]
ChrX:128703281 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1523T>A (p.Val508Asp) single nucleotide variant Lowe syndrome [RCV000059597] ChrX:129569320 [GRCh38]
ChrX:128703297 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1538A>G (p.Tyr513Cys) single nucleotide variant Lowe syndrome [RCV000059598] ChrX:129569335 [GRCh38]
ChrX:128703312 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1566C>G (p.Ser522Arg) single nucleotide variant Lowe syndrome [RCV000059599] ChrX:129569363 [GRCh38]
ChrX:128703340 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1571A>G (p.His524Arg) single nucleotide variant Lowe syndrome [RCV000059600] ChrX:129569368 [GRCh38]
ChrX:128703345 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu) single nucleotide variant Lowe syndrome [RCV000059601] ChrX:129569374 [GRCh38]
ChrX:128703351 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1773C>A (p.Asn591Lys) single nucleotide variant Lowe syndrome [RCV000059602] ChrX:129575956 [GRCh38]
ChrX:128709933 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.2672T>G (p.Leu891Arg) single nucleotide variant Lowe syndrome [RCV000059603] ChrX:129590236 [GRCh38]
ChrX:128724213 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.725T>C (p.Phe242Ser) single nucleotide variant Lowe syndrome [RCV000059604] ChrX:129560552 [GRCh38]
ChrX:128694529 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.821T>C (p.Ile274Thr) single nucleotide variant Lowe syndrome [RCV000059605] ChrX:129560648 [GRCh38]
ChrX:128694625 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.830A>G (p.Gln277Arg) single nucleotide variant Lowe syndrome [RCV000059606] ChrX:129561184 [GRCh38]
ChrX:128695161 [GRCh37]
ChrX:Xq26.1
not provided
NM_000276.4(OCRL):c.1498C>G (p.Arg500Gly) single nucleotide variant not provided [RCV000425689] ChrX:129569295 [GRCh38]
ChrX:128703272 [GRCh37]
ChrX:Xq26.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000276.4(OCRL):c.199+16C>G single nucleotide variant not specified [RCV000078493] ChrX:129545053 [GRCh38]
ChrX:128679030 [GRCh37]
ChrX:Xq26.1
benign
NM_000276.4(OCRL):c.2563del (p.Val855fs) deletion not provided [RCV000176362] ChrX:129589938 [GRCh38]
ChrX:128723915 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.2582-1G>A single nucleotide variant not provided [RCV000176451] ChrX:129590145 [GRCh38]
ChrX:128724122 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.439+3A>G single nucleotide variant Congenital cataract [RCV000203379]|History of neurodevelopmental disorder [RCV000715989]|Lowe syndrome [RCV000990943]|not specified [RCV000194322] ChrX:129557953 [GRCh38]
ChrX:128691930 [GRCh37]
ChrX:Xq26.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000276.4(OCRL):c.903_904AG[3] (p.Gly304fs) microsatellite not provided [RCV000173668] ChrX:129561257..129561258 [GRCh38]
ChrX:128695234..128695235 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000715851]|Lowe syndrome [RCV001083615]|not provided [RCV000514122]|not specified [RCV000117867] ChrX:129540745 [GRCh38]
ChrX:128674722 [GRCh37]
ChrX:Xq26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_000276.4(OCRL):c.897G>A (p.Met299Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000715978]|Lowe syndrome [RCV001083860]|not provided [RCV000828293]|not specified [RCV000261174] ChrX:129561251 [GRCh38]
ChrX:128695228 [GRCh37]
ChrX:Xq26.1
benign|uncertain significance
NM_000276.3(OCRL):c.2271G>A (p.Gln757=) single nucleotide variant not provided [RCV000127269] ChrX:129588193 [GRCh38]
ChrX:128722170 [GRCh37]
ChrX:Xq26.1
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000276.4(OCRL):c.1714-1G>A single nucleotide variant not provided [RCV000175133] ChrX:129575896 [GRCh38]
ChrX:128709873 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.1505T>C (p.Leu502Pro) single nucleotide variant not provided [RCV000174838] ChrX:129569302 [GRCh38]
ChrX:128703279 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_000276.4(OCRL):c.2299C>T (p.Gln767Ter) single nucleotide variant not provided [RCV000176152] ChrX:129588221 [GRCh38]
ChrX:128722198 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.39+10G>A single nucleotide variant not provided [RCV000173095] ChrX:129540488 [GRCh38]
ChrX:128674465 [GRCh37]
ChrX:Xq26.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq26.1(chrX:129569469-129570537)x0 copy number loss See cases [RCV000139118] ChrX:129569469..129570537 [GRCh38]
ChrX:128703446..128704514 [GRCh37]
ChrX:128531127..128532195 [NCBI36]
ChrX:Xq26.1
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq25-26.1(chrX:129192846-130323929)x2 copy number gain See cases [RCV000143055] ChrX:129192846..130323929 [GRCh38]
ChrX:128326823..129457903 [GRCh37]
ChrX:128154504..129285584 [NCBI36]
ChrX:Xq25-26.1
uncertain significance
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000276.4(OCRL):c.970_972CTT[1] (p.Leu325del) microsatellite not provided [RCV000153615] ChrX:129562414..129562416 [GRCh38]
ChrX:128696391..128696393 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.471T>G (p.Ser157=) single nucleotide variant not specified [RCV000192545] ChrX:129558664 [GRCh38]
ChrX:128692641 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.2358_2359TG[1] (p.Val787fs) microsatellite not provided [RCV000255112] ChrX:129588902..129588903 [GRCh38]
ChrX:128722879..128722880 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.2256+3A>G single nucleotide variant not specified [RCV000193170] ChrX:129587121 [GRCh38]
ChrX:128721098 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.954C>T (p.Arg318=) single nucleotide variant not provided [RCV000923664]|not specified [RCV000193379] ChrX:129562398 [GRCh38]
ChrX:128696375 [GRCh37]
ChrX:Xq26.1
benign|uncertain significance
NM_000276.4(OCRL):c.40-5C>T single nucleotide variant Lowe syndrome [RCV000714602]|not specified [RCV000195233] ChrX:129540739 [GRCh38]
ChrX:128674716 [GRCh37]
ChrX:Xq26.1
pathogenic|uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000276.4(OCRL):c.426_427delinsAC (p.Ser143Pro) indel not specified [RCV000193098] ChrX:129557937..129557938 [GRCh38]
ChrX:128691914..128691915 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.304G>A (p.Glu102Lys) single nucleotide variant not specified [RCV000194032] ChrX:129557390 [GRCh38]
ChrX:128691367 [GRCh37]
ChrX:Xq26.1
uncertain significance
Single allele variation Lowe syndrome [RCV000192288] ChrX:Xq26.1 pathogenic
NC_000023.11:g.(129551601)_129559858del deletion Lowe syndrome [RCV000192289]   pathogenic
Single allele deletion Lowe syndrome [RCV000192290] ChrX:129558888..129563133 [GRCh38]
ChrX:128692865..128697110 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.3(OCRL):c.-165-?_*2286+?del deletion Lowe syndrome [RCV000192291]   pathogenic
NM_000276.3:c.2140_*2286del deletion Dent disease type 2 [RCV000192292] ChrX:Xq26.1 pathogenic
NG_008638.1:g.(5550_9683)_(13328_22050)del deletion Dent disease type 2 [RCV000192293] ChrX:Xq26.1 pathogenic
OCRL:exon 6-12 del deletion Lowe syndrome [RCV000192294] ChrX:Xq26.1 pathogenic
NM_000276.3(OCRL):c.-165-?_199+?del deletion Lowe syndrome [RCV000192295]   pathogenic
NM_000276.3(OCRL):c.-165-?_238+?del deletion Lowe syndrome [RCV000192296]   pathogenic
NC_000023.11:g.(?_126549383)_(129592556_?)del deletion Lowe syndrome [RCV000192297] ChrX:126549383..129592556 [GRCh38]
ChrX:Xq25-26.1
pathogenic
NM_000276.4(OCRL):c.124A>G (p.Ile42Val) single nucleotide variant not specified [RCV000194950] ChrX:129544962 [GRCh38]
ChrX:128678939 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000276.4(OCRL):c.2582-1G>T single nucleotide variant not provided [RCV000265530] ChrX:129590145 [GRCh38]
ChrX:128724122 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000276.4(OCRL):c.940-11G>A single nucleotide variant Dent disease type 2 [RCV000590981]|Dent disease type 2 [RCV001335218]|not provided [RCV000338582] ChrX:129562373 [GRCh38]
ChrX:128696350 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_000276.4(OCRL):c.1576C>T (p.Pro526Ser) single nucleotide variant not provided [RCV000256005] ChrX:129569373 [GRCh38]
ChrX:128703350 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000276.4(OCRL):c.2470-2A>G single nucleotide variant not provided [RCV000381285] ChrX:129589843 [GRCh38]
ChrX:128723820 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.471T>A (p.Ser157=) single nucleotide variant not provided [RCV000332788] ChrX:129558664 [GRCh38]
ChrX:128692641 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.1208A>C (p.Asn403Thr) single nucleotide variant not provided [RCV000523185] ChrX:129562750 [GRCh38]
ChrX:128696727 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.239-4023A>G single nucleotide variant Lowe syndrome [RCV000408904] ChrX:129553302 [GRCh38]
ChrX:128687279 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.970_986del (p.Leu324fs) deletion not provided [RCV000627516] ChrX:129562413..129562429 [GRCh38]
ChrX:128696390..128696406 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter) single nucleotide variant Lowe syndrome [RCV000591698]|not provided [RCV000727227] ChrX:129562444 [GRCh38]
ChrX:128696421 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.723-2dup duplication not provided [RCV000599555] ChrX:129560547..129560548 [GRCh38]
ChrX:128694524..128694525 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_000276.4(OCRL):c.1124A>G (p.His375Arg) single nucleotide variant not provided [RCV000412922] ChrX:129562666 [GRCh38]
ChrX:128696643 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter) single nucleotide variant Lowe syndrome [RCV000768436]|not provided [RCV000729366] ChrX:129588972 [GRCh38]
ChrX:128722949 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000276.4(OCRL):c.2695G>A (p.Glu899Lys) single nucleotide variant not provided [RCV000445063] ChrX:129590259 [GRCh38]
ChrX:128724236 [GRCh37]
ChrX:Xq26.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000276.4(OCRL):c.926C>T (p.Ala309Val) single nucleotide variant not provided [RCV000438706] ChrX:129561280 [GRCh38]
ChrX:128695257 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.1040G>A (p.Gly347Glu) single nucleotide variant not provided [RCV000424806] ChrX:129562484 [GRCh38]
ChrX:128696461 [GRCh37]
ChrX:Xq26.1
likely pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_000276.4(OCRL):c.1573A>C (p.Lys525Gln) single nucleotide variant not provided [RCV000430869] ChrX:129569370 [GRCh38]
ChrX:128703347 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.1570C>T (p.His524Tyr) single nucleotide variant not provided [RCV000434372] ChrX:129569367 [GRCh38]
ChrX:128703344 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_000276.4(OCRL):c.1095del (p.His365fs) deletion not provided [RCV000441341] ChrX:129562637 [GRCh38]
ChrX:128696614 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)x2 copy number gain See cases [RCV000448112] ChrX:126307810..131646710 [GRCh37]
ChrX:Xq25-26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xq25(chrX:128674689-128674924)x3 copy number gain See cases [RCV000448043] ChrX:128674689..128674924 [GRCh37]
ChrX:Xq25
benign
GRCh37/hg19 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000276.4(OCRL):c.25G>A (p.Ala9Thr) single nucleotide variant not provided [RCV000482529] ChrX:129540464 [GRCh38]
ChrX:128674441 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq25-26.1(chrX:128311362-129281516)x3 copy number gain See cases [RCV000510392] ChrX:128311362..129281516 [GRCh37]
ChrX:Xq25-26.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000276.4(OCRL):c.50G>C (p.Gly17Ala) single nucleotide variant not specified [RCV000502299] ChrX:129540754 [GRCh38]
ChrX:128674731 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000276.4(OCRL):c.561-7T>A single nucleotide variant none provided [RCV000507671]|not provided [RCV000927749] ChrX:129558833 [GRCh38]
ChrX:128692810 [GRCh37]
ChrX:Xq26.1
benign|likely benign
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000276.4(OCRL):c.1602G>A (p.Gly534=) single nucleotide variant Lowe syndrome [RCV000537877] ChrX:129569399 [GRCh38]
ChrX:128703376 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter) single nucleotide variant Inborn genetic diseases [RCV000623245]|Lowe syndrome [RCV000680054] ChrX:129575158 [GRCh38]
ChrX:128709135 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.2635C>T (p.Gln879Ter) single nucleotide variant Lowe syndrome [RCV000632785] ChrX:129590199 [GRCh38]
ChrX:128724176 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.2427G>A (p.Gln809=) single nucleotide variant not provided [RCV000632786] ChrX:129588971 [GRCh38]
ChrX:128722948 [GRCh37]
ChrX:Xq26.1
likely benign
NM_000276.4(OCRL):c.1298A>G (p.Asn433Ser) single nucleotide variant not provided [RCV000595512] ChrX:129565825 [GRCh38]
ChrX:128699802 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.860dup (p.Tyr288fs) duplication Lowe syndrome [RCV000541094] ChrX:129561212..129561213 [GRCh38]
ChrX:128695189..128695190 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq25-26.1(chrX:128605962-128710578)x3 copy number gain See cases [RCV000512324] ChrX:128605962..128710578 [GRCh37]
ChrX:Xq25-26.1
uncertain significance
NM_000276.4(OCRL):c.2139+4A>G single nucleotide variant not provided [RCV000585017] ChrX:129584371 [GRCh38]
ChrX:128718348 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000276.4(OCRL):c.187_199+449del deletion Dent disease type 2 [RCV000662294] ChrX:129545025..129545486 [GRCh38]
ChrX:128679002..128679463 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_000276.4(OCRL):c.1657A>G (p.Ile553Val) single nucleotide variant History of neurodevelopmental disorder [RCV000717495] ChrX:129575194 [GRCh38]
ChrX:128709171 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
NM_000276.4(OCRL):c.952C>A (p.Arg318Ser) single nucleotide variant not provided [RCV000681712] ChrX:129562396 [GRCh38]
ChrX:128696373 [GRCh37]
ChrX:Xq26.1
likely pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_000276.4(OCRL):c.560+1G>C single nucleotide variant Lowe syndrome [RCV000701856] ChrX:129558754 [GRCh38]
ChrX:128692731 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro) single nucleotide variant Lowe syndrome [RCV000687544] ChrX:129588933 [GRCh38]
ChrX:128722910 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.1367A>C (p.Gln456Pro) single nucleotide variant Lowe syndrome [RCV000702966] ChrX:129567264 [GRCh38]
ChrX:128701241 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.1514G>A (p.Gly505Glu) single nucleotide variant Lowe syndrome [RCV000688552] ChrX:129569311 [GRCh38]
ChrX:128703288 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000716126] ChrX:129560596 [GRCh38]
ChrX:128694573 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.1221G>A (p.Pro407=) single nucleotide variant History of neurodevelopmental disorder [RCV000718434] ChrX:129562763 [GRCh38]
ChrX:128696740 [GRCh37]
ChrX:Xq26.1
likely benign
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp) single nucleotide variant History of neurodevelopmental disorder [RCV000718753]|Lowe syndrome [RCV000873690] ChrX:129557886 [GRCh38]
ChrX:128691863 [GRCh37]
ChrX:Xq26.1
benign
NM_000276.4(OCRL):c.1291G>A (p.Asp431Asn) single nucleotide variant History of neurodevelopmental disorder [RCV000721090]|not provided [RCV000878673] ChrX:129565818 [GRCh38]
ChrX:128699795 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_000276.4(OCRL):c.105G>A (p.Arg35=) single nucleotide variant History of neurodevelopmental disorder [RCV000718012]|not provided [RCV000955627] ChrX:129540809 [GRCh38]
ChrX:128674786 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_000276.4(OCRL):c.1104C>T (p.Thr368=) single nucleotide variant History of neurodevelopmental disorder [RCV000718451] ChrX:129562646 [GRCh38]
ChrX:128696623 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000276.4(OCRL):c.1440_1441CT[1] (p.Asp480_Ser481insTer) microsatellite Lowe syndrome [RCV000806128] ChrX:129567337..129567338 [GRCh38]
ChrX:128701314..128701315 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.780_781insACT (p.Trp261_Leu262insThr) insertion not provided [RCV000735076] ChrX:129560605..129560606 [GRCh38]
ChrX:128694582..128694583 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq26.1(chrX:128723451-129281476)x2 copy number gain not provided [RCV000753774] ChrX:128723451..129281476 [GRCh37]
ChrX:Xq26.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile) single nucleotide variant not provided [RCV000762668] ChrX:129590244 [GRCh38]
ChrX:128724221 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000276.4(OCRL):c.109G>C (p.Gly37Arg) single nucleotide variant not provided [RCV000996015] ChrX:129540813 [GRCh38]
ChrX:128674790 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.2341+1G>A single nucleotide variant not provided [RCV000996016] ChrX:129588264 [GRCh38]
ChrX:128722241 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_000276.4(OCRL):c.109G>A (p.Gly37Arg) single nucleotide variant not provided [RCV000887310] ChrX:129540813 [GRCh38]
ChrX:128674790 [GRCh37]
ChrX:Xq26.1
likely benign
NM_000276.4(OCRL):c.441G>A (p.Gly147=) single nucleotide variant Lowe syndrome [RCV000909146] ChrX:129558634 [GRCh38]
ChrX:128692611 [GRCh37]
ChrX:Xq26.1
likely benign
NM_000276.4(OCRL):c.2116-9C>T single nucleotide variant not provided [RCV000945439] ChrX:129584335 [GRCh38]
ChrX:128718312 [GRCh37]
ChrX:Xq26.1
benign
NM_000276.4(OCRL):c.2694C>T (p.Ser898=) single nucleotide variant not provided [RCV000927410] ChrX:129590258 [GRCh38]
ChrX:128724235 [GRCh37]
ChrX:Xq26.1
benign
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile) single nucleotide variant Lowe syndrome [RCV000937727] ChrX:129589938 [GRCh38]
ChrX:128723915 [GRCh37]
ChrX:Xq26.1
likely benign
NM_000276.4(OCRL):c.40-80dup duplication Lowe syndrome [RCV000990942] ChrX:129540654..129540655 [GRCh38]
ChrX:128674631..128674632 [GRCh37]
ChrX:Xq26.1
benign
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter) single nucleotide variant Dent disease type 2 [RCV000851318]|Lowe syndrome [RCV000794610] ChrX:129589008 [GRCh38]
ChrX:128722985 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.746T>G (p.Val249Gly) single nucleotide variant Lowe syndrome [RCV000806346] ChrX:129560573 [GRCh38]
ChrX:128694550 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.1370G>C (p.Arg457Pro) single nucleotide variant Lowe syndrome [RCV000801650] ChrX:129567267 [GRCh38]
ChrX:128701244 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.674_675AT[1] (p.Ile226fs) microsatellite Lowe syndrome [RCV000791535] ChrX:129558953..129558954 [GRCh38]
ChrX:128692930..128692931 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25(chrX:128662912-128682275)x2 copy number gain not provided [RCV000846421] ChrX:128662912..128682275 [GRCh37]
ChrX:Xq25
uncertain significance
NM_000276.4(OCRL):c.2470-1G>A single nucleotide variant Lowe syndrome [RCV000814175] ChrX:129589844 [GRCh38]
ChrX:128723821 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_000276.4(OCRL):c.741G>A (p.Trp247Ter) single nucleotide variant Lowe syndrome [RCV001095682] ChrX:129560568 [GRCh38]
ChrX:128694545 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_000276.4(OCRL):c.497C>A (p.Ser166Ter) single nucleotide variant not provided [RCV001091716] ChrX:129558690 [GRCh38]
ChrX:128692667 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1
pathogenic
NM_000276.4(OCRL):c.1244+1338_1366del deletion Lowe syndrome [RCV000795789] ChrX:129564123..129567262 [GRCh38]
ChrX:128698100..128701239 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter) single nucleotide variant Lowe syndrome [RCV000824979] ChrX:129569295 [GRCh38]
ChrX:128703272 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.1467-3C>G single nucleotide variant Lowe syndrome [RCV000822414] ChrX:129569261 [GRCh38]
ChrX:128703238 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.560+9C>A single nucleotide variant not provided [RCV000920035] ChrX:129558762 [GRCh38]
ChrX:128692739 [GRCh37]
ChrX:Xq26.1
likely benign
NM_000276.4(OCRL):c.1907T>A (p.Val636Glu) single nucleotide variant Lowe syndrome [RCV000850187] ChrX:129576344 [GRCh38]
ChrX:128710321 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.3(OCRL):c.2557_2558insLINE1 insertion not provided [RCV000991129] ChrX:Xq26.1 pathogenic
NM_000276.4(OCRL):c.1979A>C (p.His660Pro) single nucleotide variant Lowe syndrome [RCV000850186] ChrX:129576416 [GRCh38]
ChrX:128710393 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala) single nucleotide variant Lowe syndrome [RCV001029771] ChrX:129560651 [GRCh38]
ChrX:128694628 [GRCh37]
ChrX:Xq26.1
likely pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_000276.4(OCRL):c.533dup (p.Pro179fs) duplication not provided [RCV001008532] ChrX:129558721..129558722 [GRCh38]
ChrX:128692698..128692699 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq25-26.1(chrX:128194529-129017909)x3 copy number gain not provided [RCV001007343] ChrX:128194529..129017909 [GRCh37]
ChrX:Xq25-26.1
uncertain significance
NM_000276.4(OCRL):c.1244+1G>A single nucleotide variant Lowe syndrome [RCV001234126] ChrX:129562787 [GRCh38]
ChrX:128696764 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.1355A>G (p.Gln452Arg) single nucleotide variant Lowe syndrome [RCV001217384] ChrX:129565882 [GRCh38]
ChrX:128699859 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.2582-9G>A single nucleotide variant not provided [RCV000951564] ChrX:129590137 [GRCh38]
ChrX:128724114 [GRCh37]
ChrX:Xq26.1
benign
NM_000276.4(OCRL):c.2177G>T (p.Gly726Val) single nucleotide variant Lowe syndrome [RCV000969818] ChrX:129587039 [GRCh38]
ChrX:128721016 [GRCh37]
ChrX:Xq26.1
benign
NM_000276.4(OCRL):c.1587C>G (p.Ala529=) single nucleotide variant not provided [RCV000907214] ChrX:129569384 [GRCh38]
ChrX:128703361 [GRCh37]
ChrX:Xq26.1
likely benign
NM_000276.4(OCRL):c.807T>C (p.Pro269=) single nucleotide variant not provided [RCV000952214] ChrX:129560634 [GRCh38]
ChrX:128694611 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000276.4(OCRL):c.350-5T>C single nucleotide variant not provided [RCV000954543] ChrX:129557856 [GRCh38]
ChrX:128691833 [GRCh37]
ChrX:Xq26.1
likely benign
NM_000276.4(OCRL):c.912T>G (p.Gly304=) single nucleotide variant not provided [RCV000872219] ChrX:129561266 [GRCh38]
ChrX:128695243 [GRCh37]
ChrX:Xq26.1
benign
NM_000276.4(OCRL):c.39+9C>G single nucleotide variant not provided [RCV000921940] ChrX:129540487 [GRCh38]
ChrX:128674464 [GRCh37]
ChrX:Xq26.1
likely benign
NC_000023.10:g.(?_128674397)_(128975941_?)dup duplication Mental retardation, X-linked, syndromic, Raymond type [RCV001031704] ChrX:128674397..128975941 [GRCh37]
ChrX:Xq25-26.1
uncertain significance
NC_000023.11:g.129557325del deletion not provided [RCV001008574] ChrX:129557324 [GRCh38]
ChrX:128691301 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.1466+1G>A single nucleotide variant Lowe syndrome [RCV001264796] ChrX:129567364 [GRCh38]
ChrX:128701341 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_000276.4(OCRL):c.1245-1083G>A single nucleotide variant Dent disease type 2 [RCV001251424] ChrX:129564689 [GRCh38]
ChrX:128698666 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.2469+1G>A single nucleotide variant Lowe syndrome [RCV001036352] ChrX:129589014 [GRCh38]
ChrX:128722991 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_000276.4(OCRL):c.1753_1755del (p.Glu585del) deletion Lowe syndrome [RCV001049745] ChrX:129575934..129575936 [GRCh38]
ChrX:128709911..128709913 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.2357_2358del (p.Ser786fs) microsatellite not provided [RCV001200547] ChrX:129588899..129588900 [GRCh38]
ChrX:128722876..128722877 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000276.4(OCRL):c.643C>T (p.Gln215Ter) single nucleotide variant Lowe syndrome [RCV001172281] ChrX:129558922 [GRCh38]
ChrX:128692899 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.2078C>T (p.Pro693Leu) single nucleotide variant Dent disease type 2 [RCV001200920] ChrX:129576515 [GRCh38]
ChrX:128710492 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.809A>G (p.Asp270Gly) single nucleotide variant Lowe syndrome [RCV001042161] ChrX:129560636 [GRCh38]
ChrX:128694613 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.11C>T (p.Pro4Leu) single nucleotide variant not provided [RCV001253831] ChrX:129540450 [GRCh38]
ChrX:128674427 [GRCh37]
ChrX:Xq26.1
likely benign
NM_000276.4(OCRL):c.19G>T (p.Val7Phe) single nucleotide variant Intellectual disability [RCV001255122] ChrX:129540458 [GRCh38]
ChrX:128674435 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_000276.4(OCRL):c.1466+4A>G single nucleotide variant Dent disease type 2 [RCV001262140] ChrX:129567367 [GRCh38]
ChrX:128701344 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1
pathogenic
NM_000276.4(OCRL):c.2651_2653del (p.Arg884del) deletion Dent disease type 2 [RCV001262141] ChrX:129590213..129590215 [GRCh38]
ChrX:128724190..128724192 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.2414dup (p.Tyr805Ter) duplication not provided [RCV001268358] ChrX:129588957..129588958 [GRCh38]
ChrX:128722934..128722935 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_000276.4(OCRL):c.1568A>C (p.Asp523Ala) single nucleotide variant not provided [RCV001268272] ChrX:129569365 [GRCh38]
ChrX:128703342 [GRCh37]
ChrX:Xq26.1
likely pathogenic
GRCh37/hg19 Xq25-26.1(chrX:128679172-128818324)x2 copy number gain not provided [RCV001259504] ChrX:128679172..128818324 [GRCh37]
ChrX:Xq25-26.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000276.4(OCRL):c.934A>G (p.Lys312Glu) single nucleotide variant Dent disease type 2 [RCV001329157] ChrX:129561288 [GRCh38]
ChrX:128695265 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000276.4(OCRL):c.533del (p.Pro178fs) deletion Dent disease type 2 [RCV001328163] ChrX:129558722 [GRCh38]
ChrX:128692699 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_000276.4(OCRL):c.1454G>C (p.Arg485Pro) single nucleotide variant Lowe syndrome [RCV001318481] ChrX:129567351 [GRCh38]
ChrX:128701328 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe) single nucleotide variant Dent disease type 2 [RCV001329156] ChrX:129557939 [GRCh38]
ChrX:128691916 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.1988G>T (p.Arg663Leu) single nucleotide variant Lowe syndrome [RCV001299927] ChrX:129576425 [GRCh38]
ChrX:128710402 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.2066G>A (p.Arg689His) single nucleotide variant Lowe syndrome [RCV001291799] ChrX:129576503 [GRCh38]
ChrX:128710480 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000276.4(OCRL):c.1656C>T (p.Arg552=) single nucleotide variant Dent disease type 2 [RCV001329155] ChrX:129575193 [GRCh38]
ChrX:128709170 [GRCh37]
ChrX:Xq26.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8108 AgrOrtholog
COSMIC OCRL COSMIC
Ensembl Genes ENSG00000122126 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000349635 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000360154 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000493809 UniProtKB/TrEMBL
  ENSP00000494940 UniProtKB/TrEMBL
  ENSP00000495615 UniProtKB/TrEMBL
Ensembl Transcript ENST00000357121 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000371113 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000646010 UniProtKB/TrEMBL
  ENST00000646914 UniProtKB/TrEMBL
  ENST00000647245 UniProtKB/TrEMBL
Gene3D-CATH 1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.60.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000122126 GTEx
HGNC ID HGNC:8108 ENTREZGENE
Human Proteome Map OCRL Human Proteome Map
InterPro Endo/exonu/phosph_ase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Endo/exonuclease/phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IPPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OCRL1/INPP5B_INPP5c UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OCRL1_PH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OCRL_clath-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4952 UniProtKB/Swiss-Prot
NCBI Gene 4952 ENTREZGENE
OMIM 300535 OMIM
  300555 OMIM
  309000 OMIM
Pfam Exo_endo_phos UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OCRL_clath_bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31896 PharmGKB
PROSITE RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IPPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56219 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8YCN4_HUMAN UniProtKB/TrEMBL
  A0A2R8YF88_HUMAN UniProtKB/TrEMBL
  A0A2R8YG38_HUMAN UniProtKB/TrEMBL
  A0A2X0TVZ9_HUMAN UniProtKB/TrEMBL
  OCRL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q504W7 ENTREZGENE, UniProtKB/TrEMBL
  Q6PJ10_HUMAN UniProtKB/TrEMBL
UniProt Secondary A6NKI1 UniProtKB/Swiss-Prot
  A8KAP2 UniProtKB/Swiss-Prot
  B7ZLX2 UniProtKB/Swiss-Prot
  O60800 UniProtKB/Swiss-Prot
  Q15684 UniProtKB/Swiss-Prot
  Q15774 UniProtKB/Swiss-Prot
  Q4VY09 UniProtKB/Swiss-Prot
  Q4VY10 UniProtKB/Swiss-Prot
  Q5JQF1 UniProtKB/Swiss-Prot
  Q5JQF2 UniProtKB/Swiss-Prot
  Q9UJG5 UniProtKB/Swiss-Prot
  Q9UMA5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 OCRL  OCRL inositol polyphosphate-5-phosphatase    OCRL, inositol polyphosphate-5-phosphatase  Symbol and/or name change 5135510 APPROVED
2016-05-31 OCRL  OCRL, inositol polyphosphate-5-phosphatase    oculocerebrorenal syndrome of Lowe  Symbol and/or name change 5135510 APPROVED
2011-08-16 OCRL  oculocerebrorenal syndrome of Lowe  OCRL  oculocerebrorenal syndrome of Lowe  Symbol and/or name change 5135510 APPROVED