ORC1 (origin recognition complex subunit 1) - Rat Genome Database

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Gene: ORC1 (origin recognition complex subunit 1) Homo sapiens
Analyze
Symbol: ORC1
Name: origin recognition complex subunit 1
RGD ID: 1350406
HGNC Page HGNC:8487
Description: Predicted to enable DNA replication origin binding activity. Involved in DNA replication initiation. Located in chromosome, telomeric region and nucleoplasm. Part of nuclear origin of replication recognition complex. Implicated in Meier-Gorlin syndrome 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HSORC1; ORC1L; origin recognition complex 1; origin recognition complex, subunit 1 homolog; origin recognition complex, subunit 1, S. cerevisiae, homolog-like; origin recognition complex, subunit 1-like; PARC1; replication control protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ORC1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38152,372,829 - 52,409,503 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl152,372,010 - 52,404,471 (-)Ensemblhg38GRCh38
GRCh37152,838,501 - 52,870,095 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36152,611,089 - 52,642,719 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34152,550,521 - 52,582,152NCBI
Celera151,125,195 - 51,156,841 (-)NCBICelera
Cytogenetic Map1p32.3NCBI
HuRef150,954,504 - 50,986,088 (-)NCBIHuRef
CHM1_1152,955,878 - 52,987,524 (-)NCBICHM1_1
T2T-CHM13v2.0152,254,294 - 52,290,972 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
17beta-estradiol  (EXP,ISO)
2,2'-Methylenebis(4-methyl-6-tert-butylphenol)  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-butoxyethanol  (ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-nitrophenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
azathioprine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
cannabidiol  (EXP)
chlorpromazine  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
clotrimazole  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
dicrotophos  (EXP)
diethyl maleate  (ISO)
dimethyl sulfoxide  (EXP)
dioxygen  (EXP)
endosulfan  (EXP)
Enterolactone  (EXP)
FR900359  (EXP)
furan  (ISO)
gentamycin  (ISO)
glyphosate  (EXP)
GSK-J4  (EXP)
GW 3965  (EXP)
GW 4064  (EXP)
irinotecan  (EXP)
Lasiocarpine  (EXP)
lidocaine  (ISO)
MeIQx  (EXP)
methamphetamine  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
niclosamide  (EXP)
nitrofen  (ISO)
okadaic acid  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctanoic acid  (EXP)
phenacetin  (ISO)
phenylhydrazine  (ISO)
phytoestrogen  (EXP)
potassium dichromate  (ISO)
pravastatin  (ISO)
propanal  (EXP)
quercetin  (EXP)
resveratrol  (EXP,ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
topotecan  (ISO)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
troglitazone  (EXP)
urethane  (EXP)
zaragozic acid A  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal epiphysis morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormal rib cage morphology  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormality of the outer ear  (IAGP)
Absent glenoid fossa  (IAGP)
Absent sternal ossification  (IAGP)
Advanced ossification of carpal bones  (IAGP)
Anotia  (IAGP)
Aplasia/Hypoplasia of the patella  (IAGP)
Aplastic clavicle  (IAGP)
Atresia of the external auditory canal  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid uvula  (IAGP)
Birth length less than 3rd percentile  (IAGP)
Blepharophimosis  (IAGP)
Blue sclerae  (IAGP)
Breast aplasia  (IAGP)
Breast hypoplasia  (IAGP)
Breech presentation  (IAGP)
Broad foot  (IAGP)
Broad thumb  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clitoral hypertrophy  (IAGP)
Clitoral hypoplasia  (IAGP)
Coarse facial features  (IAGP)
Congenital onset  (IAGP)
Coxa valga  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous finger syndactyly  (IAGP)
Cutaneous syndactyly  (IAGP)
Death in infancy  (IAGP)
Delayed ability to walk  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Dyspnea  (IAGP)
Elbow dislocation  (IAGP)
Emphysema  (IAGP)
Epicanthus  (IAGP)
Epiphyseal dysplasia  (IAGP)
Epispadias  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fetal onset  (IAGP)
Flat acetabular roof  (IAGP)
Flat face  (IAGP)
Flat glenoid fossa  (IAGP)
Flexion contracture  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Genu recurvatum  (IAGP)
Genu valgum  (IAGP)
Genu varum  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hemivertebrae  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hip dislocation  (IAGP)
Hyperconvex nail  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplastic labia majora  (IAGP)
Hypoplastic labia minora  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Incomplete partition of the cochlea type II  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint contracture of the hand  (IAGP)
Joint hypermobility  (IAGP)
Knee dislocation  (IAGP)
Lateral clavicle hook  (IAGP)
Long eyelashes  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Lumbar hyperlordosis  (IAGP)
Mandibular aplasia  (IAGP)
Metaphyseal widening  (IAGP)
Metatarsus adductus  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microtia  (IAGP)
Microtia, third degree  (IAGP)
Monkey wrench femoral neck  (IAGP)
Narrow chest  (IAGP)
Narrow mouth  (IAGP)
Neonatal respiratory distress  (IAGP)
Osteochondritis dissecans  (IAGP)
Patellar aplasia  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Platyspondyly  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Prominent lesser trochanter  (IAGP)
Proptosis  (IAGP)
Radial head subluxation  (IAGP)
Relative macrocephaly  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Retrognathia  (IAGP)
Round face  (IAGP)
Severe short stature  (IAGP)
Shawl scrotum  (IAGP)
Short clavicles  (IAGP)
Short long bone  (IAGP)
Short metacarpal  (IAGP)
Short neck  (IAGP)
Short palm  (IAGP)
Short palpebral fissure  (IAGP)
Short phalanx of finger  (IAGP)
Short ribs  (IAGP)
Single transverse palmar crease  (IAGP)
Slender long bone  (IAGP)
Small anterior fontanelle  (IAGP)
Small for gestational age  (IAGP)
Small hand  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Submucous cleft hard palate  (IAGP)
Synophrys  (IAGP)
Talipes equinovarus  (IAGP)
Thick vermilion border  (IAGP)
Thin ribs  (IAGP)
Thin skin  (IAGP)
Toe clinodactyly  (IAGP)
Truncal obesity  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. Readout of epigenetic modifications. Patel DJ and Wang Z, Annu Rev Biochem. 2013;82:81-118. doi: 10.1146/annurev-biochem-072711-165700.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:7502077   PMID:8884289   PMID:8943353   PMID:9566895   PMID:10436018   PMID:10438470   PMID:10523313   PMID:10681582   PMID:10954718   PMID:11095689   PMID:11125146   PMID:11323433  
PMID:11716535   PMID:11779870   PMID:11809796   PMID:11931757   PMID:12045100   PMID:12393188   PMID:12477932   PMID:12614612   PMID:12791985   PMID:12909626   PMID:12909627   PMID:12912926  
PMID:15226314   PMID:15232106   PMID:15342556   PMID:15454574   PMID:15684404   PMID:15707391   PMID:16226712   PMID:16344560   PMID:16549788   PMID:16710414   PMID:16799465   PMID:17066079  
PMID:17081983   PMID:17474147   PMID:17716973   PMID:18029348   PMID:18761675   PMID:18946490   PMID:19135898   PMID:19197067   PMID:20360068   PMID:20800603   PMID:20850016   PMID:20932478  
PMID:21029866   PMID:21085491   PMID:21115485   PMID:21358631   PMID:21358632   PMID:21358633   PMID:21873635   PMID:22045277   PMID:22333897   PMID:22398447   PMID:22589552   PMID:22855792  
PMID:23187890   PMID:24003239   PMID:24270157   PMID:25416956   PMID:25453095   PMID:25784553   PMID:26186194   PMID:26496610   PMID:27458800   PMID:27906128   PMID:28514442   PMID:29467282  
PMID:29507755   PMID:29509190   PMID:30804502   PMID:31160578   PMID:31309634   PMID:31527615   PMID:31866342   PMID:32296183   PMID:32807901   PMID:32808929   PMID:33044890   PMID:33438746  
PMID:33761311   PMID:33961781   PMID:34373451   PMID:34581668   PMID:35271311   PMID:35748872   PMID:36424410   PMID:36688959   PMID:36700467   PMID:37772772   PMID:37833711   PMID:39349928  
PMID:39604733   PMID:40593736  


Genomics

Comparative Map Data
ORC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38152,372,829 - 52,409,503 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl152,372,010 - 52,404,471 (-)Ensemblhg38GRCh38
GRCh37152,838,501 - 52,870,095 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36152,611,089 - 52,642,719 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34152,550,521 - 52,582,152NCBI
Celera151,125,195 - 51,156,841 (-)NCBICelera
Cytogenetic Map1p32.3NCBI
HuRef150,954,504 - 50,986,088 (-)NCBIHuRef
CHM1_1152,955,878 - 52,987,524 (-)NCBICHM1_1
T2T-CHM13v2.0152,254,294 - 52,290,972 (-)NCBIT2T-CHM13v2.0
Orc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394108,436,651 - 108,472,030 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4108,436,620 - 108,472,030 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm384108,575,705 - 108,616,030 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4108,579,423 - 108,614,833 (+)Ensemblmm10GRCm38
MGSCv374108,252,059 - 108,287,438 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv364108,077,406 - 108,112,765 (+)NCBIMGSCv36mm8
Celera4106,922,805 - 106,959,019 (+)NCBICelera
Cytogenetic Map4C7NCBI
cM Map450.64NCBI
Orc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85128,552,975 - 128,581,943 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl5128,552,991 - 128,577,071 (+)EnsemblGRCr8
mRatBN7.25123,324,273 - 123,348,375 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5123,324,315 - 123,348,375 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx5125,951,118 - 125,970,825 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05127,674,202 - 127,693,909 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05127,725,496 - 127,745,203 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.05128,186,651 - 128,212,901 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5128,190,708 - 128,210,445 (+)Ensemblrn6Rnor6.0
Rnor_5.05132,027,128 - 132,053,582 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.45129,881,973 - 129,901,675 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera5122,062,985 - 122,082,678 (+)NCBICelera
RGSC_v3.15129,887,198 - 129,906,901 (+)NCBI
Cytogenetic Map5q34NCBI
Orc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554646,764,992 - 6,787,066 (+)Ensembl
ChiLan1.0NW_0049554646,761,046 - 6,787,144 (+)NCBIChiLan1.0ChiLan1.0
ORC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21174,445,007 - 174,481,020 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11173,587,081 - 173,622,999 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0151,630,344 - 51,666,327 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1153,238,377 - 53,273,653 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl153,238,377 - 53,273,653 (-)EnsemblpanPan2panpan1.1
ORC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1158,965,339 - 8,995,527 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl158,971,732 - 8,995,481 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha159,117,639 - 9,147,426 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0159,088,800 - 9,118,581 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl159,088,747 - 9,118,578 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1158,901,830 - 8,931,588 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0158,990,730 - 9,020,498 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0159,008,666 - 9,038,436 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Orc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505866,805,540 - 66,835,637 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365228,586,591 - 8,610,747 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365228,580,661 - 8,610,750 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ORC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6159,819,339 - 159,852,305 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.16159,819,302 - 159,852,306 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26147,478,622 - 147,512,210 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ORC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12080,540,331 - 80,571,989 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2080,542,532 - 80,572,237 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603336,698,289 - 36,730,187 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Orc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624859833,793 - 863,539 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624859833,360 - 863,631 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Orc1
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1146,256,396 - 46,276,322 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in ORC1
366 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004153.4(ORC1):c.380A>G (p.Glu127Gly) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000023154] Chr1:52397707 [GRCh38]
Chr1:52863379 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000023155]|ORC1-related disorder [RCV003398563]|not provided [RCV002513182] Chr1:52397821 [GRCh38]
Chr1:52863493 [GRCh37]
Chr1:1p32.3		 pathogenic|likely pathogenic|uncertain significance
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) single nucleotide variant Inborn genetic diseases [RCV004955259]|Meier-Gorlin syndrome 1 [RCV000023156]|Meier-Gorlin syndrome [RCV000302017]|ORC1-related disorder [RCV004745166]|not provided [RCV001382828] Chr1:52397773 [GRCh38]
Chr1:52863445 [GRCh37]
Chr1:1p32.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000023157]|not provided [RCV001818177] Chr1:52375574 [GRCh38]
Chr1:52841246 [GRCh37]
Chr1:1p32.3		 pathogenic|likely pathogenic
NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs) indel Meier-Gorlin syndrome 1 [RCV000023158] Chr1:52383433..52383434 [GRCh38]
Chr1:52849105..52849106 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.1482-2A>G single nucleotide variant Meier-Gorlin syndrome 1 [RCV000023159] Chr1:52385264 [GRCh38]
Chr1:52850936 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000023160]|not provided [RCV001852014] Chr1:52383437 [GRCh38]
Chr1:52849109 [GRCh37]
Chr1:1p32.3		 pathogenic|uncertain significance
GRCh38/hg38 1p32.3-31.3(chr1:50222546-61618373)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|See cases [RCV000051819] Chr1:50222546..61618373 [GRCh38]
Chr1:50688218..62084045 [GRCh37]
Chr1:50460805..61856633 [NCBI36]
Chr1:1p32.3-31.3		 pathogenic
NM_004153.3(ORC1):c.2115C>T (p.Ile705=) single nucleotide variant Malignant melanoma [RCV000064813] Chr1:52381660 [GRCh38]
Chr1:52847332 [GRCh37]
Chr1:52619920 [NCBI36]
Chr1:1p32.3		 not provided
NM_004153.4(ORC1):c.1581A>G (p.Gly527=) single nucleotide variant Meier-Gorlin syndrome 1 [RCV003985077]|not provided [RCV000953923]|not specified [RCV000117869] Chr1:52385163 [GRCh38]
Chr1:52850835 [GRCh37]
Chr1:1p32.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004153.4(ORC1):c.308T>C (p.Leu103Ser) single nucleotide variant not provided [RCV000117870] Chr1:52397779 [GRCh38]
Chr1:52863451 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1239A>C (p.Ala413=) single nucleotide variant not provided [RCV000877478]|not specified [RCV000117872] Chr1:52388586 [GRCh38]
Chr1:52854258 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_004153.4(ORC1):c.2405A>G (p.His802Arg) single nucleotide variant Meier-Gorlin syndrome 1 [RCV004813059]|not provided [RCV000117875] Chr1:52373362 [GRCh38]
Chr1:52839034 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2518G>A (p.Asp840Asn) single nucleotide variant not provided [RCV000117878] Chr1:52373249 [GRCh38]
Chr1:52838921 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.400C>T (p.Arg134Trp) single nucleotide variant Inborn genetic diseases [RCV004649070]|not provided [RCV000117879] Chr1:52397687 [GRCh38]
Chr1:52863359 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001102029]|not provided [RCV001512736]|not specified [RCV000117871] Chr1:52389289 [GRCh38]
Chr1:52854961 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_004153.4(ORC1):c.1397C>T (p.Thr466Met) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000382251]|not provided [RCV001514775]|not specified [RCV000117873] Chr1:52385936 [GRCh38]
Chr1:52851608 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000325263]|not provided [RCV000864304]|not specified [RCV000117874] Chr1:52385927 [GRCh38]
Chr1:52851599 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_004153.4(ORC1):c.2427G>A (p.Glu809=) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000353104]|not provided [RCV001518251]|not specified [RCV000117876] Chr1:52373340 [GRCh38]
Chr1:52839012 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_004153.4(ORC1):c.2447T>C (p.Met816Thr) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000304858]|not provided [RCV001511695]|not specified [RCV000117877] Chr1:52373320 [GRCh38]
Chr1:52838992 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_004153.4(ORC1):c.568G>A (p.Val190Met) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000284372]|not provided [RCV000870508]|not specified [RCV000117880] Chr1:52396199 [GRCh38]
Chr1:52861871 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000376527]|ORC1-related disorder [RCV003964986]|not provided [RCV000870516]|not specified [RCV000117881] Chr1:52393719 [GRCh38]
Chr1:52859391 [GRCh37]
Chr1:1p32.3		 benign|likely benign|uncertain significance
NM_004153.4(ORC1):c.2013G>C (p.Leu671=) single nucleotide variant Inborn genetic diseases [RCV004955569]|not provided [RCV000514975] Chr1:52383420 [GRCh38]
Chr1:52849092 [GRCh37]
Chr1:1p32.3		 likely pathogenic|uncertain significance
NM_004153.4(ORC1):c.540A>C (p.Gln180His) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001096628]|not provided [RCV000515091] Chr1:52396227 [GRCh38]
Chr1:52861899 [GRCh37]
Chr1:1p32.3		 benign
NM_004153.4(ORC1):c.943C>T (p.Arg315Cys) single nucleotide variant not provided [RCV001340093]|not specified [RCV000192604] Chr1:52393582 [GRCh38]
Chr1:52859254 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.403-7A>C single nucleotide variant Meier-Gorlin syndrome 1 [RCV000286826]|not provided [RCV000864586]|not specified [RCV000193149] Chr1:52396371 [GRCh38]
Chr1:52862043 [GRCh37]
Chr1:1p32.3		 benign|likely benign|uncertain significance
NM_004153.4(ORC1):c.1318T>C (p.Ser440Pro) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001102026]|ORC1-related disorder [RCV003917763]|not provided [RCV000994001]|not specified [RCV000193217] Chr1:52388507 [GRCh38]
Chr1:52854179 [GRCh37]
Chr1:1p32.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004153.4(ORC1):c.1517G>A (p.Cys506Tyr) single nucleotide variant not provided [RCV001327359]|not specified [RCV000194450] Chr1:52385227 [GRCh38]
Chr1:52850899 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001102028]|not provided [RCV000873965]|not specified [RCV000194995] Chr1:52389218 [GRCh38]
Chr1:52854890 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_004153.4(ORC1):c.2571G>A (p.Ala857=) single nucleotide variant not provided [RCV002517963]|not specified [RCV000195275] Chr1:52373196 [GRCh38]
Chr1:52838868 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.1083-4G>C single nucleotide variant not specified [RCV000194144] Chr1:52389325 [GRCh38]
Chr1:52854997 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.703A>G (p.Lys235Glu) single nucleotide variant not specified [RCV000194369] Chr1:52396064 [GRCh38]
Chr1:52861736 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2382G>A (p.Thr794=) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000299439]|ORC1-related disorder [RCV003930239]|not provided [RCV002059487] Chr1:52374819 [GRCh38]
Chr1:52840491 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.1819A>G (p.Thr607Ala) single nucleotide variant Inborn genetic diseases [RCV004955399]|Meier-Gorlin syndrome 1 [RCV000273625]|ORC1-related disorder [RCV003949995]|not provided [RCV000871104]|not specified [RCV001820857] Chr1:52383874 [GRCh38]
Chr1:52849546 [GRCh37]
Chr1:1p32.3		 benign|likely benign|uncertain significance
NM_004153.4(ORC1):c.1284A>C (p.Thr428=) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000290191] Chr1:52388541 [GRCh38]
Chr1:52854213 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1584-4C>G single nucleotide variant Meier-Gorlin syndrome 1 [RCV000369286]|not provided [RCV000871696] Chr1:52384725 [GRCh38]
Chr1:52850397 [GRCh37]
Chr1:1p32.3		 benign|uncertain significance
NM_004153.4(ORC1):c.2392-1G>T single nucleotide variant Inborn genetic diseases [RCV000210696] Chr1:52373376 [GRCh38]
Chr1:52839048 [GRCh37]
Chr1:1p32.3		 likely pathogenic
NM_004153.4(ORC1):c.721+1G>C single nucleotide variant Inborn genetic diseases [RCV000210711]|not provided [RCV003556272] Chr1:52396045 [GRCh38]
Chr1:52861717 [GRCh37]
Chr1:1p32.3		 likely pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_004153.4(ORC1):c.1139G>T (p.Arg380Leu) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000328770] Chr1:52389265 [GRCh38]
Chr1:52854937 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1671C>T (p.Ala557=) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000330981]|not provided [RCV000905283] Chr1:52384634 [GRCh38]
Chr1:52850306 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.535C>A (p.Pro179Thr) single nucleotide variant Inborn genetic diseases [RCV005396926]|Meier-Gorlin syndrome 1 [RCV000341764] Chr1:52396232 [GRCh38]
Chr1:52861904 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000509535]|ORC1-related disorder [RCV003940123]|not provided [RCV000870938]|not specified [RCV000501625] Chr1:52374887 [GRCh38]
Chr1:52840559 [GRCh37]
Chr1:1p32.3		 benign|likely benign|uncertain significance|not provided
NM_004153.4(ORC1):c.57G>C (p.Arg19Ser) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000347437]|ORC1-related disorder [RCV003891921]|not provided [RCV000513920]|not specified [RCV000246237] Chr1:52402167 [GRCh38]
Chr1:52867839 [GRCh37]
Chr1:1p32.3		 benign|likely benign|uncertain significance
NM_004153.4(ORC1):c.*94C>T single nucleotide variant Meier-Gorlin syndrome 1 [RCV000402493] Chr1:52373087 [GRCh38]
Chr1:52838759 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.*231C>T single nucleotide variant Meier-Gorlin syndrome 1 [RCV000291923]|not provided [RCV001707627] Chr1:52372950 [GRCh38]
Chr1:52838622 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_004153.4(ORC1):c.1430G>A (p.Arg477Gln) single nucleotide variant Inborn genetic diseases [RCV002520499]|Meier-Gorlin syndrome 1 [RCV000277078] Chr1:52385903 [GRCh38]
Chr1:52851575 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2530C>T (p.Arg844Trp) single nucleotide variant Inborn genetic diseases [RCV003245489] Chr1:52373237 [GRCh38]
Chr1:52838909 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.435G>A (p.Pro145=) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000380079] Chr1:52396332 [GRCh38]
Chr1:52862004 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.387C>T (p.Ile129=) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000406590]|not specified [RCV001820858] Chr1:52397700 [GRCh38]
Chr1:52863372 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.*226G>C single nucleotide variant Meier-Gorlin syndrome 1 [RCV000339905] Chr1:52372955 [GRCh38]
Chr1:52838627 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.392G>T (p.Gly131Val) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000341759] Chr1:52397695 [GRCh38]
Chr1:52863367 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.3(ORC1):c.-199C>G single nucleotide variant Meier-Gorlin syndrome [RCV000395639] Chr1:52404439 [GRCh38]
Chr1:52870111 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2404C>T (p.His802Tyr) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000397459] Chr1:52373363 [GRCh38]
Chr1:52839035 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.-5-12A>T single nucleotide variant Meier-Gorlin syndrome 1 [RCV001100138] Chr1:52402240 [GRCh38]
Chr1:52867912 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1645C>T (p.Arg549Cys) single nucleotide variant Inborn genetic diseases [RCV002556023]|Meier-Gorlin syndrome 1 [RCV001100036]|not provided [RCV001856357] Chr1:52384660 [GRCh38]
Chr1:52850332 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.721_721+1del deletion not provided [RCV000592030] Chr1:52396045..52396046 [GRCh38]
Chr1:52861717..52861718 [GRCh37]
Chr1:1p32.3		 uncertain significance
GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1 copy number loss See cases [RCV000447334] Chr1:51729573..55164001 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.2226C>A (p.Ser742=) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001098266]|not provided [RCV000865446]|not specified [RCV000503389] Chr1:52375507 [GRCh38]
Chr1:52841179 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_004153.4(ORC1):c.2436G>A (p.Pro812=) single nucleotide variant not provided [RCV000883003]|not specified [RCV000503580] Chr1:52373331 [GRCh38]
Chr1:52839003 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2347G>A (p.Ala783Thr) single nucleotide variant not provided [RCV001865614]|not specified [RCV000499811] Chr1:52374854 [GRCh38]
Chr1:52840526 [GRCh37]
Chr1:1p32.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_004153.4(ORC1):c.625G>A (p.Ala209Thr) single nucleotide variant not specified [RCV000500003] Chr1:52396142 [GRCh38]
Chr1:52861814 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000660447]|not provided [RCV001857137]|not specified [RCV000500202] Chr1:52396159 [GRCh38]
Chr1:52861831 [GRCh37]
Chr1:1p32.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_004153.4(ORC1):c.1982G>T (p.Arg661Leu) single nucleotide variant Inborn genetic diseases [RCV003263812] Chr1:52383451 [GRCh38]
Chr1:52849123 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.440A>G (p.Asn147Ser) single nucleotide variant Inborn genetic diseases [RCV003285349] Chr1:52396327 [GRCh38]
Chr1:52861999 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1277C>G (p.Ala426Gly) single nucleotide variant Inborn genetic diseases [RCV003261026] Chr1:52388548 [GRCh38]
Chr1:52854220 [GRCh37]
Chr1:1p32.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_004153.4(ORC1):c.1161T>G (p.Thr387=) single nucleotide variant not provided [RCV000871209] Chr1:52389243 [GRCh38]
Chr1:52854915 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2580C>T (p.Asp860=) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001096520]|ORC1-related disorder [RCV003948192]|not provided [RCV000872701] Chr1:52373187 [GRCh38]
Chr1:52838859 [GRCh37]
Chr1:1p32.3		 benign|likely benign|uncertain significance
NM_004153.4(ORC1):c.1384-98C>G single nucleotide variant not provided [RCV001669079] Chr1:52386047 [GRCh38]
Chr1:52851719 [GRCh37]
Chr1:1p32.3		 benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_004153.4(ORC1):c.808G>A (p.Glu270Lys) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001096626] Chr1:52393717 [GRCh38]
Chr1:52859389 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2265G>C (p.Val755=) single nucleotide variant not provided [RCV000923861] Chr1:52375468 [GRCh38]
Chr1:52841140 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.61T>C (p.Leu21=) single nucleotide variant not provided [RCV000925036] Chr1:52402163 [GRCh38]
Chr1:52867835 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.456G>A (p.Lys152=) single nucleotide variant not provided [RCV000865308] Chr1:52396311 [GRCh38]
Chr1:52861983 [GRCh37]
Chr1:1p32.3		 benign
NM_004153.4(ORC1):c.354G>A (p.Pro118=) single nucleotide variant not provided [RCV000915826] Chr1:52397733 [GRCh38]
Chr1:52863405 [GRCh37]
Chr1:1p32.3		 benign
NM_004153.4(ORC1):c.990T>C (p.Ile330=) single nucleotide variant not provided [RCV000897891] Chr1:52393535 [GRCh38]
Chr1:52859207 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2221_2224dup (p.Ser742Ter) duplication not provided [RCV001386973] Chr1:52375508..52375509 [GRCh38]
Chr1:52841180..52841181 [GRCh37]
Chr1:1p32.3		 pathogenic|uncertain significance
NM_004153.4(ORC1):c.1964C>T (p.Thr655Ile) single nucleotide variant Meier-Gorlin syndrome 1 [RCV000791113] Chr1:52383469 [GRCh38]
Chr1:52849141 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.42T>C (p.Tyr14=) single nucleotide variant not provided [RCV000921088] Chr1:52402182 [GRCh38]
Chr1:52867854 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1365G>A (p.Thr455=) single nucleotide variant not provided [RCV000914980] Chr1:52388460 [GRCh38]
Chr1:52854132 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2162G>A (p.Arg721Gln) single nucleotide variant Meier-Gorlin syndrome 1 [RCV003132112]|not provided [RCV000870838] Chr1:52375571 [GRCh38]
Chr1:52841243 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.556T>C (p.Cys186Arg) single nucleotide variant Inborn genetic diseases [RCV003160617]|Meier-Gorlin syndrome 1 [RCV001096627] Chr1:52396211 [GRCh38]
Chr1:52861883 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2570C>T (p.Ala857Val) single nucleotide variant Inborn genetic diseases [RCV004960443]|Meier-Gorlin syndrome 1 [RCV001096521]|not provided [RCV002554896] Chr1:52373197 [GRCh38]
Chr1:52838869 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.289G>T (p.Ala97Ser) single nucleotide variant Inborn genetic diseases [RCV004659349]|Meier-Gorlin syndrome 1 [RCV001098349]|not provided [RCV002554923] Chr1:52397798 [GRCh38]
Chr1:52863470 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.189G>T (p.Pro63=) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001098350]|ORC1-related disorder [RCV003906189]|not provided [RCV001510609] Chr1:52401396 [GRCh38]
Chr1:52867068 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_004153.4(ORC1):c.1575T>C (p.His525=) single nucleotide variant not provided [RCV000939043] Chr1:52385169 [GRCh38]
Chr1:52850841 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001098267]|ORC1-related disorder [RCV003940782]|not provided [RCV000896822] Chr1:52384560 [GRCh38]
Chr1:52850232 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_004153.4(ORC1):c.1466A>T (p.Glu489Val) single nucleotide variant Inborn genetic diseases [RCV002558008]|Meier-Gorlin syndrome 1 [RCV001100037]|not provided [RCV002554951] Chr1:52385867 [GRCh38]
Chr1:52851539 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1025G>T (p.Gly342Val) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001096624] Chr1:52393500 [GRCh38]
Chr1:52859172 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1383T>C (p.Ser461=) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001102025]|not provided [RCV001873497] Chr1:52388442 [GRCh38]
Chr1:52854114 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1384-1G>C single nucleotide variant not provided [RCV001212151] Chr1:52385950 [GRCh38]
Chr1:52851622 [GRCh37]
Chr1:1p32.3		 likely pathogenic
NM_004153.4(ORC1):c.1599C>T (p.Ser533=) single nucleotide variant not provided [RCV003106300] Chr1:52384706 [GRCh38]
Chr1:52850378 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1083-54G>A single nucleotide variant not provided [RCV001661148] Chr1:52389375 [GRCh38]
Chr1:52855047 [GRCh37]
Chr1:1p32.3		 benign
NM_004153.4(ORC1):c.1584-53A>G single nucleotide variant not provided [RCV001687359] Chr1:52384774 [GRCh38]
Chr1:52850446 [GRCh37]
Chr1:1p32.3		 benign
NM_004153.4(ORC1):c.224-148A>C single nucleotide variant not provided [RCV001713835] Chr1:52398011 [GRCh38]
Chr1:52863683 [GRCh37]
Chr1:1p32.3		 benign
NM_004153.4(ORC1):c.2304-92T>C single nucleotide variant not provided [RCV001540098] Chr1:52374989 [GRCh38]
Chr1:52840661 [GRCh37]
Chr1:1p32.3		 benign
NM_004153.4(ORC1):c.1405T>C (p.Cys469Arg) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001100038]|not provided [RCV000907437] Chr1:52385928 [GRCh38]
Chr1:52851600 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.307T>C (p.Leu103=) single nucleotide variant not provided [RCV000921765] Chr1:52397780 [GRCh38]
Chr1:52863452 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1707T>C (p.Asn569=) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001100035]|not provided [RCV000872383] Chr1:52384598 [GRCh38]
Chr1:52850270 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.2536C>T (p.Arg846Trp) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001096522] Chr1:52373231 [GRCh38]
Chr1:52838903 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.911C>T (p.Thr304Ile) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001096625] Chr1:52393614 [GRCh38]
Chr1:52859286 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1864-8C>T single nucleotide variant not provided [RCV000913516] Chr1:52383577 [GRCh38]
Chr1:52849249 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2463C>T (p.Ala821=) single nucleotide variant ORC1-related disorder [RCV003975616]|not provided [RCV000890430] Chr1:52373304 [GRCh38]
Chr1:52838976 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1722G>A (p.Thr574=) single nucleotide variant not provided [RCV000891044] Chr1:52384583 [GRCh38]
Chr1:52850255 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2014-38G>A single nucleotide variant not provided [RCV001717961] Chr1:52381799 [GRCh38]
Chr1:52847471 [GRCh37]
Chr1:1p32.3		 benign
NM_004153.4(ORC1):c.1384-108C>T single nucleotide variant not provided [RCV001695452] Chr1:52386057 [GRCh38]
Chr1:52851729 [GRCh37]
Chr1:1p32.3		 benign
NM_004153.4(ORC1):c.1196G>A (p.Gly399Asp) single nucleotide variant Inborn genetic diseases [RCV004032084]|Meier-Gorlin syndrome 1 [RCV001102027]|not provided [RCV001856392] Chr1:52388629 [GRCh38]
Chr1:52854301 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.151C>G (p.Gln51Glu) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001100137]|not provided [RCV001414367] Chr1:52401434 [GRCh38]
Chr1:52867106 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.-178C>T single nucleotide variant Meier-Gorlin syndrome 1 [RCV001100139] Chr1:52404418 [GRCh38]
Chr1:52870090 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1583+52T>C single nucleotide variant not provided [RCV001669979] Chr1:52385109 [GRCh38]
Chr1:52850781 [GRCh37]
Chr1:1p32.3		 benign
NM_004153.4(ORC1):c.2303+10T>C single nucleotide variant Meier-Gorlin syndrome 1 [RCV001098265]|not provided [RCV003669183] Chr1:52375420 [GRCh38]
Chr1:52841092 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.2418C>T (p.Cys806=) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001098264] Chr1:52373349 [GRCh38]
Chr1:52839021 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.402+12C>T single nucleotide variant Meier-Gorlin syndrome 1 [RCV001098348]|not provided [RCV002067749] Chr1:52397673 [GRCh38]
Chr1:52863345 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_004153.4(ORC1):c.2435C>T (p.Pro812Leu) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001096523] Chr1:52373332 [GRCh38]
Chr1:52839004 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1051G>A (p.Val351Met) single nucleotide variant Inborn genetic diseases [RCV004960763]|not provided [RCV001320615] Chr1:52393474 [GRCh38]
Chr1:52859146 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2513G>C (p.Arg838Thr) single nucleotide variant Inborn genetic diseases [RCV004651547]|not provided [RCV001299230] Chr1:52373254 [GRCh38]
Chr1:52838926 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2488C>T (p.Arg830Cys) single nucleotide variant not provided [RCV001318132] Chr1:52373279 [GRCh38]
Chr1:52838951 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1988T>C (p.Met663Thr) single nucleotide variant Meier-Gorlin syndrome 1 [RCV005394952]|not provided [RCV001337459] Chr1:52383445 [GRCh38]
Chr1:52849117 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.689C>A (p.Thr230Asn) single nucleotide variant not provided [RCV001321500] Chr1:52396078 [GRCh38]
Chr1:52861750 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.692del (p.Pro231fs) deletion not provided [RCV001355998] Chr1:52396075 [GRCh38]
Chr1:52861747 [GRCh37]
Chr1:1p32.3		 likely pathogenic
NM_004153.4(ORC1):c.1139G>A (p.Arg380His) single nucleotide variant not provided [RCV001360524] Chr1:52389265 [GRCh38]
Chr1:52854937 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.578A>T (p.Lys193Met) single nucleotide variant not provided [RCV001344668] Chr1:52396189 [GRCh38]
Chr1:52861861 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2303A>G (p.Lys768Arg) single nucleotide variant not provided [RCV001360740] Chr1:52375430 [GRCh38]
Chr1:52841102 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.688A>T (p.Thr230Ser) single nucleotide variant not provided [RCV001357588] Chr1:52396079 [GRCh38]
Chr1:52861751 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2014-2A>G single nucleotide variant Meier-Gorlin syndrome 1 [RCV001336637] Chr1:52381763 [GRCh38]
Chr1:52847435 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.934C>T (p.Pro312Ser) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001336639] Chr1:52393591 [GRCh38]
Chr1:52859263 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.437C>T (p.Thr146Met) single nucleotide variant Inborn genetic diseases [RCV004952848]|not provided [RCV001372460] Chr1:52396330 [GRCh38]
Chr1:52862002 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.1582G>A (p.Gly528Arg) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001329179] Chr1:52385162 [GRCh38]
Chr1:52850834 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.659A>G (p.Lys220Arg) single nucleotide variant not provided [RCV001370926] Chr1:52396108 [GRCh38]
Chr1:52861780 [GRCh37]
Chr1:1p32.3		 uncertain significance
GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514) copy number loss Abnormality of the kidney [RCV001352641] Chr1:51941877..56688514 [GRCh37]
Chr1:1p32.3-32.2		 pathogenic|likely pathogenic
NM_004153.4(ORC1):c.237del (p.Pro80fs) deletion Meier-Gorlin syndrome 1 [RCV001336638] Chr1:52397850 [GRCh38]
Chr1:52863522 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.313C>T (p.Arg105Trp) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001375044] Chr1:52397774 [GRCh38]
Chr1:52863446 [GRCh37]
Chr1:1p32.3		 likely pathogenic
NM_004153.4(ORC1):c.353C>T (p.Pro118Leu) single nucleotide variant Inborn genetic diseases [RCV002547714]|not provided [RCV001359253] Chr1:52397734 [GRCh38]
Chr1:52863406 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2295G>T (p.Thr765=) single nucleotide variant not provided [RCV001503937] Chr1:52375438 [GRCh38]
Chr1:52841110 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2231del (p.Gly744fs) deletion not provided [RCV001381448] Chr1:52375502 [GRCh38]
Chr1:52841174 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.807G>A (p.Ser269=) single nucleotide variant not provided [RCV001429446] Chr1:52393718 [GRCh38]
Chr1:52859390 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2343C>T (p.Ile781=) single nucleotide variant not provided [RCV001438856] Chr1:52374858 [GRCh38]
Chr1:52840530 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.699C>A (p.Ala233=) single nucleotide variant not provided [RCV001486500] Chr1:52396068 [GRCh38]
Chr1:52861740 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2133+57G>C single nucleotide variant not provided [RCV001691125] Chr1:52381585 [GRCh38]
Chr1:52847257 [GRCh37]
Chr1:1p32.3		 benign
NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001527357] Chr1:52383568 [GRCh38]
Chr1:52849240 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.1755+244T>C single nucleotide variant not provided [RCV001687678] Chr1:52384306 [GRCh38]
Chr1:52849978 [GRCh37]
Chr1:1p32.3		 benign
NC_000001.11:g.52369378_52373625del deletion Meier-Gorlin syndrome 1 [RCV001527374] Chr1:52369376..52373623 [GRCh38]
Chr1:52835048..52839295 [GRCh37]
Chr1:1p32.3		 pathogenic|likely pathogenic
NM_004153.4(ORC1):c.2134-218_2134-215dup duplication not provided [RCV001617782] Chr1:52375813..52375814 [GRCh38]
Chr1:52841485..52841486 [GRCh37]
Chr1:1p32.3		 benign
NM_004153.4(ORC1):c.2346C>T (p.Leu782=) single nucleotide variant not provided [RCV001487645] Chr1:52374855 [GRCh38]
Chr1:52840527 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1330C>T (p.Arg444Ter) single nucleotide variant not provided [RCV001389554] Chr1:52388495 [GRCh38]
Chr1:52854167 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.217G>A (p.Glu73Lys) single nucleotide variant Meier-Gorlin syndrome 1 [RCV001527375] Chr1:52401368 [GRCh38]
Chr1:52867040 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.403-2A>C single nucleotide variant Meier-Gorlin syndrome 1 [RCV001784771] Chr1:52396366 [GRCh38]
Chr1:52862038 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.325G>A (p.Ala109Thr) single nucleotide variant not specified [RCV001817472] Chr1:52397762 [GRCh38]
Chr1:52863434 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1295C>G (p.Pro432Arg) single nucleotide variant not specified [RCV001819429] Chr1:52388530 [GRCh38]
Chr1:52854202 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1789G>A (p.Ala597Thr) single nucleotide variant not provided [RCV001892472] Chr1:52383904 [GRCh38]
Chr1:52849576 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.628A>G (p.Lys210Glu) single nucleotide variant not provided [RCV001947576] Chr1:52396139 [GRCh38]
Chr1:52861811 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2381C>T (p.Thr794Met) single nucleotide variant not provided [RCV001969244] Chr1:52374820 [GRCh38]
Chr1:52840492 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.589G>T (p.Ala197Ser) single nucleotide variant not provided [RCV001969953] Chr1:52396178 [GRCh38]
Chr1:52861850 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1941T>C (p.Leu647=) single nucleotide variant not provided [RCV002025010] Chr1:52383492 [GRCh38]
Chr1:52849164 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.755C>T (p.Ser252Leu) single nucleotide variant not provided [RCV002005416] Chr1:52393770 [GRCh38]
Chr1:52859442 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1411G>A (p.Ala471Thr) single nucleotide variant Inborn genetic diseases [RCV002553580]|not provided [RCV001889608] Chr1:52385922 [GRCh38]
Chr1:52851594 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.1756-1G>A single nucleotide variant not provided [RCV002041132] Chr1:52383938 [GRCh38]
Chr1:52849610 [GRCh37]
Chr1:1p32.3		 likely pathogenic
NM_004153.4(ORC1):c.1992G>A (p.Met664Ile) single nucleotide variant Inborn genetic diseases [RCV004955920]|not provided [RCV001946546] Chr1:52383441 [GRCh38]
Chr1:52849113 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.464T>A (p.Phe155Tyr) single nucleotide variant not provided [RCV001970426] Chr1:52396303 [GRCh38]
Chr1:52861975 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1201A>G (p.Ser401Gly) single nucleotide variant not provided [RCV001910959] Chr1:52388624 [GRCh38]
Chr1:52854296 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.721+4A>C single nucleotide variant not provided [RCV001872984] Chr1:52396042 [GRCh38]
Chr1:52861714 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1547A>G (p.Asn516Ser) single nucleotide variant not provided [RCV001910350] Chr1:52385197 [GRCh38]
Chr1:52850869 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.275del (p.Phe92fs) deletion not provided [RCV001948914] Chr1:52397812 [GRCh38]
Chr1:52863484 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.743C>T (p.Ser248Phe) single nucleotide variant not provided [RCV001911771] Chr1:52393782 [GRCh38]
Chr1:52859454 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1894A>G (p.Ile632Val) single nucleotide variant not provided [RCV001965708] Chr1:52383539 [GRCh38]
Chr1:52849211 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2077C>T (p.Arg693Trp) single nucleotide variant not provided [RCV002021229] Chr1:52381698 [GRCh38]
Chr1:52847370 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.652G>A (p.Ala218Thr) single nucleotide variant not provided [RCV001948330] Chr1:52396115 [GRCh38]
Chr1:52861787 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1697T>C (p.Ile566Thr) single nucleotide variant Inborn genetic diseases [RCV004955884]|not provided [RCV001964849] Chr1:52384608 [GRCh38]
Chr1:52850280 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1649G>A (p.Cys550Tyr) single nucleotide variant not provided [RCV001891372] Chr1:52384656 [GRCh38]
Chr1:52850328 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2314G>C (p.Val772Leu) single nucleotide variant not provided [RCV001891373] Chr1:52374887 [GRCh38]
Chr1:52840559 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1600G>A (p.Gly534Ser) single nucleotide variant not provided [RCV001887249] Chr1:52384705 [GRCh38]
Chr1:52850377 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2511C>T (p.Ser837=) single nucleotide variant not provided [RCV001944724] Chr1:52373256 [GRCh38]
Chr1:52838928 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.1363A>G (p.Thr455Ala) single nucleotide variant not provided [RCV002000853] Chr1:52388462 [GRCh38]
Chr1:52854134 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2537G>A (p.Arg846Gln) single nucleotide variant not provided [RCV002001254] Chr1:52373230 [GRCh38]
Chr1:52838902 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1600G>C (p.Gly534Arg) single nucleotide variant not provided [RCV002020273] Chr1:52384705 [GRCh38]
Chr1:52850377 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1504G>C (p.Glu502Gln) single nucleotide variant Inborn genetic diseases [RCV004953124]|not provided [RCV002049760] Chr1:52385240 [GRCh38]
Chr1:52850912 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.947T>A (p.Ile316Lys) single nucleotide variant Inborn genetic diseases [RCV004656705]|not provided [RCV001888680] Chr1:52393578 [GRCh38]
Chr1:52859250 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2254A>G (p.Met752Val) single nucleotide variant Inborn genetic diseases [RCV003170216]|not provided [RCV001975396] Chr1:52375479 [GRCh38]
Chr1:52841151 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1955T>C (p.Ile652Thr) single nucleotide variant not provided [RCV001934979] Chr1:52383478 [GRCh38]
Chr1:52849150 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2013+4G>C single nucleotide variant not provided [RCV001875176] Chr1:52383416 [GRCh38]
Chr1:52849088 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2464G>C (p.Val822Leu) single nucleotide variant not provided [RCV002046202] Chr1:52373303 [GRCh38]
Chr1:52838975 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2394A>G (p.Ile798Met) single nucleotide variant not provided [RCV001897633] Chr1:52373373 [GRCh38]
Chr1:52839045 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2183G>A (p.Arg728His) single nucleotide variant not provided [RCV001884395] Chr1:52375550 [GRCh38]
Chr1:52841222 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1014_1025del (p.Ile339_Gly342del) deletion not provided [RCV001958492] Chr1:52393500..52393511 [GRCh38]
Chr1:52859172..52859183 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1540A>C (p.Ile514Leu) single nucleotide variant not provided [RCV001869971] Chr1:52385204 [GRCh38]
Chr1:52850876 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.665G>T (p.Arg222Leu) single nucleotide variant not provided [RCV002019153] Chr1:52396102 [GRCh38]
Chr1:52861774 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2294C>T (p.Thr765Met) single nucleotide variant Inborn genetic diseases [RCV002553667]|not provided [RCV001919930] Chr1:52375439 [GRCh38]
Chr1:52841111 [GRCh37]
Chr1:1p32.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_004153.4(ORC1):c.2105A>G (p.Asp702Gly) single nucleotide variant not provided [RCV002026413] Chr1:52381670 [GRCh38]
Chr1:52847342 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1433G>A (p.Ser478Asn) single nucleotide variant Inborn genetic diseases [RCV004956194]|not provided [RCV002036536] Chr1:52385900 [GRCh38]
Chr1:52851572 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.2356C>T (p.Arg786Cys) single nucleotide variant not provided [RCV001990822] Chr1:52374845 [GRCh38]
Chr1:52840517 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2182C>T (p.Arg728Cys) single nucleotide variant not provided [RCV001952025] Chr1:52375551 [GRCh38]
Chr1:52841223 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1254C>A (p.Asp418Glu) single nucleotide variant not provided [RCV002015117] Chr1:52388571 [GRCh38]
Chr1:52854243 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1933G>A (p.Ala645Thr) single nucleotide variant not provided [RCV001902266] Chr1:52383500 [GRCh38]
Chr1:52849172 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1092A>G (p.Lys364=) single nucleotide variant ORC1-related disorder [RCV003913509]|not provided [RCV002071373] Chr1:52389312 [GRCh38]
Chr1:52854984 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.717T>C (p.Leu239=) single nucleotide variant not provided [RCV002112002] Chr1:52396050 [GRCh38]
Chr1:52861722 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.223+16G>A single nucleotide variant not provided [RCV002188089] Chr1:52401346 [GRCh38]
Chr1:52867018 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2286A>G (p.Ser762=) single nucleotide variant not provided [RCV002133494] Chr1:52375447 [GRCh38]
Chr1:52841119 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.669A>G (p.Gln223=) single nucleotide variant not provided [RCV002211095] Chr1:52396098 [GRCh38]
Chr1:52861770 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1424G>A (p.Arg475His) single nucleotide variant not provided [RCV001944936] Chr1:52385909 [GRCh38]
Chr1:52851581 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.744C>A (p.Ser248=) single nucleotide variant not provided [RCV002091741] Chr1:52393781 [GRCh38]
Chr1:52859453 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1083-11G>T single nucleotide variant not provided [RCV002153541] Chr1:52389332 [GRCh38]
Chr1:52855004 [GRCh37]
Chr1:1p32.3		 benign
NM_004153.4(ORC1):c.999G>A (p.Glu333=) single nucleotide variant not provided [RCV002132517] Chr1:52393526 [GRCh38]
Chr1:52859198 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2568T>C (p.Tyr856=) single nucleotide variant not provided [RCV002149441] Chr1:52373199 [GRCh38]
Chr1:52838871 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2304-13C>T single nucleotide variant not provided [RCV002174521] Chr1:52374910 [GRCh38]
Chr1:52840582 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.147T>C (p.Ile49=) single nucleotide variant not provided [RCV002078653] Chr1:52401438 [GRCh38]
Chr1:52867110 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1083-17G>T single nucleotide variant not provided [RCV002159338] Chr1:52389338 [GRCh38]
Chr1:52855010 [GRCh37]
Chr1:1p32.3		 benign
NM_004153.4(ORC1):c.1440T>C (p.Ala480=) single nucleotide variant not provided [RCV002201880] Chr1:52385893 [GRCh38]
Chr1:52851565 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.223+8T>G single nucleotide variant ORC1-related disorder [RCV003895929]|not provided [RCV002142902] Chr1:52401354 [GRCh38]
Chr1:52867026 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1866C>T (p.Leu622=) single nucleotide variant not provided [RCV002098926] Chr1:52383567 [GRCh38]
Chr1:52849239 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1050C>G (p.Ser350=) single nucleotide variant not provided [RCV002139928] Chr1:52393475 [GRCh38]
Chr1:52859147 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1482-18G>A single nucleotide variant not provided [RCV002176380] Chr1:52385280 [GRCh38]
Chr1:52850952 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.224-17C>T single nucleotide variant not provided [RCV002199141] Chr1:52397880 [GRCh38]
Chr1:52863552 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.933A>G (p.Ser311=) single nucleotide variant not provided [RCV002139340] Chr1:52393592 [GRCh38]
Chr1:52859264 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1583+12G>A single nucleotide variant not provided [RCV002154930] Chr1:52385149 [GRCh38]
Chr1:52850821 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1668A>G (p.Gln556=) single nucleotide variant not provided [RCV002101793] Chr1:52384637 [GRCh38]
Chr1:52850309 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.688dup (p.Thr230fs) duplication Meier-Gorlin syndrome 1 [RCV003147896] Chr1:52396078..52396079 [GRCh38]
Chr1:52861750..52861751 [GRCh37]
Chr1:1p32.3		 likely pathogenic
NM_004153.4(ORC1):c.2354T>G (p.Phe785Cys) single nucleotide variant Inborn genetic diseases [RCV003300231] Chr1:52374847 [GRCh38]
Chr1:52840519 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.298C>T (p.Arg100Trp) single nucleotide variant Inborn genetic diseases [RCV003262029]|not provided [RCV003730506] Chr1:52397789 [GRCh38]
Chr1:52863461 [GRCh37]
Chr1:1p32.3		 uncertain significance
GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2 copy number loss Orofacial cleft 13 [RCV002488680] Chr1:50441439..50959811 [GRCh38]
Chr1:1p33-32.3		 association
NM_004153.4(ORC1):c.960C>G (p.Thr320=) single nucleotide variant not provided [RCV002681594] Chr1:52393565 [GRCh38]
Chr1:52859237 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1423C>T (p.Arg475Cys) single nucleotide variant not provided [RCV002968048] Chr1:52385910 [GRCh38]
Chr1:52851582 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1384-17C>G single nucleotide variant not provided [RCV003013469] Chr1:52385966 [GRCh38]
Chr1:52851638 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1673A>G (p.Asn558Ser) single nucleotide variant not provided [RCV002616948] Chr1:52384632 [GRCh38]
Chr1:52850304 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1864-1G>C single nucleotide variant not provided [RCV002820135] Chr1:52383570 [GRCh38]
Chr1:52849242 [GRCh37]
Chr1:1p32.3		 likely pathogenic
NM_004153.4(ORC1):c.1187+11T>A single nucleotide variant not provided [RCV002843805] Chr1:52389206 [GRCh38]
Chr1:52854878 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2170G>A (p.Asp724Asn) single nucleotide variant Inborn genetic diseases [RCV002883789] Chr1:52375563 [GRCh38]
Chr1:52841235 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.875C>T (p.Ala292Val) single nucleotide variant not provided [RCV002842963] Chr1:52393650 [GRCh38]
Chr1:52859322 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2422A>G (p.Met808Val) single nucleotide variant not provided [RCV003074894] Chr1:52373345 [GRCh38]
Chr1:52839017 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1288C>G (p.Pro430Ala) single nucleotide variant Inborn genetic diseases [RCV004958808]|not provided [RCV002902994] Chr1:52388537 [GRCh38]
Chr1:52854209 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1565T>C (p.Leu522Pro) single nucleotide variant not provided [RCV002843434] Chr1:52385179 [GRCh38]
Chr1:52850851 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.129C>T (p.Thr43=) single nucleotide variant not provided [RCV002775701] Chr1:52401456 [GRCh38]
Chr1:52867128 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.104G>T (p.Cys35Phe) single nucleotide variant Inborn genetic diseases [RCV002906342] Chr1:52401481 [GRCh38]
Chr1:52867153 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.434C>T (p.Pro145Leu) single nucleotide variant Inborn genetic diseases [RCV002844529] Chr1:52396333 [GRCh38]
Chr1:52862005 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1000A>C (p.Arg334=) single nucleotide variant not provided [RCV002571975] Chr1:52393525 [GRCh38]
Chr1:52859197 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.120T>A (p.Gly40=) single nucleotide variant not provided [RCV002914446] Chr1:52401465 [GRCh38]
Chr1:52867137 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.602C>A (p.Ser201Tyr) single nucleotide variant not provided [RCV002705208] Chr1:52396165 [GRCh38]
Chr1:52861837 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.247C>T (p.Arg83Cys) single nucleotide variant not provided [RCV002800381] Chr1:52397840 [GRCh38]
Chr1:52863512 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.831A>T (p.Arg277Ser) single nucleotide variant not provided [RCV002621265] Chr1:52393694 [GRCh38]
Chr1:52859366 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1499T>C (p.Val500Ala) single nucleotide variant not provided [RCV003055334] Chr1:52385245 [GRCh38]
Chr1:52850917 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.968C>T (p.Ala323Val) single nucleotide variant not provided [RCV002949086] Chr1:52393557 [GRCh38]
Chr1:52859229 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2078G>A (p.Arg693Gln) single nucleotide variant Inborn genetic diseases [RCV004651992]|not provided [RCV002590673] Chr1:52381697 [GRCh38]
Chr1:52847369 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.551C>T (p.Ala184Val) single nucleotide variant not provided [RCV002761635] Chr1:52396216 [GRCh38]
Chr1:52861888 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.790C>T (p.Arg264Trp) single nucleotide variant not provided [RCV002781382] Chr1:52393735 [GRCh38]
Chr1:52859407 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2062C>G (p.Gln688Glu) single nucleotide variant Inborn genetic diseases [RCV002949824] Chr1:52381713 [GRCh38]
Chr1:52847385 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2173_2176dup (p.Cys726fs) duplication not provided [RCV003020882] Chr1:52375556..52375557 [GRCh38]
Chr1:52841228..52841229 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.248G>A (p.Arg83His) single nucleotide variant Inborn genetic diseases [RCV002784001] Chr1:52397839 [GRCh38]
Chr1:52863511 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.402+15C>T single nucleotide variant not provided [RCV002569867] Chr1:52397670 [GRCh38]
Chr1:52863342 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2544C>T (p.Asn848=) single nucleotide variant not provided [RCV002734957] Chr1:52373223 [GRCh38]
Chr1:52838895 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.117A>C (p.Glu39Asp) single nucleotide variant not provided [RCV003035327] Chr1:52401468 [GRCh38]
Chr1:52867140 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1587C>T (p.Cys529=) single nucleotide variant not provided [RCV003025204] Chr1:52384718 [GRCh38]
Chr1:52850390 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1926T>A (p.His642Gln) single nucleotide variant Inborn genetic diseases [RCV002853977]|ORC1-related disorder [RCV003420447] Chr1:52383507 [GRCh38]
Chr1:52849179 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2505G>T (p.Glu835Asp) single nucleotide variant not provided [RCV002800936] Chr1:52373262 [GRCh38]
Chr1:52838934 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1540A>G (p.Ile514Val) single nucleotide variant not provided [RCV002574604] Chr1:52385204 [GRCh38]
Chr1:52850876 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.19A>C (p.Arg7=) single nucleotide variant not provided [RCV002594849] Chr1:52402205 [GRCh38]
Chr1:52867877 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.987C>G (p.Asp329Glu) single nucleotide variant not provided [RCV002572637] Chr1:52393538 [GRCh38]
Chr1:52859210 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2517C>T (p.Asn839=) single nucleotide variant not provided [RCV002642722] Chr1:52373250 [GRCh38]
Chr1:52838922 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2048A>T (p.Tyr683Phe) single nucleotide variant not provided [RCV002594294] Chr1:52381727 [GRCh38]
Chr1:52847399 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2531G>A (p.Arg844Gln) single nucleotide variant not provided [RCV002596903] Chr1:52373236 [GRCh38]
Chr1:52838908 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1868A>G (p.Asp623Gly) single nucleotide variant not provided [RCV003041892] Chr1:52383565 [GRCh38]
Chr1:52849237 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1402C>T (p.Arg468Cys) single nucleotide variant Inborn genetic diseases [RCV005398985]|not provided [RCV002786191] Chr1:52385931 [GRCh38]
Chr1:52851603 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.752C>T (p.Thr251Ile) single nucleotide variant Inborn genetic diseases [RCV002718230] Chr1:52393773 [GRCh38]
Chr1:52859445 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2259A>T (p.Glu753Asp) single nucleotide variant not provided [RCV002833660] Chr1:52375474 [GRCh38]
Chr1:52841146 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.224-14C>T single nucleotide variant not provided [RCV003031630] Chr1:52397877 [GRCh38]
Chr1:52863549 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.522G>C (p.Ala174=) single nucleotide variant not provided [RCV002895748] Chr1:52396245 [GRCh38]
Chr1:52861917 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1863+18G>A single nucleotide variant not provided [RCV002770121] Chr1:52383812 [GRCh38]
Chr1:52849484 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.8A>C (p.His3Pro) single nucleotide variant not provided [RCV003028741] Chr1:52402216 [GRCh38]
Chr1:52867888 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.784A>G (p.Ile262Val) single nucleotide variant Inborn genetic diseases [RCV003088477]|not provided [RCV003088476] Chr1:52393741 [GRCh38]
Chr1:52859413 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_004153.4(ORC1):c.1322G>T (p.Arg441Met) single nucleotide variant not provided [RCV003011103] Chr1:52388503 [GRCh38]
Chr1:52854175 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1188-13C>T single nucleotide variant not provided [RCV003030803] Chr1:52388650 [GRCh38]
Chr1:52854322 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.223+10G>A single nucleotide variant not provided [RCV002600423] Chr1:52401352 [GRCh38]
Chr1:52867024 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1376AGA[1] (p.Lys460del) microsatellite not provided [RCV002650317] Chr1:52388444..52388446 [GRCh38]
Chr1:52854116..52854118 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2440C>T (p.Pro814Ser) single nucleotide variant not provided [RCV002675551] Chr1:52373327 [GRCh38]
Chr1:52838999 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.402+19C>T single nucleotide variant not provided [RCV002646131] Chr1:52397666 [GRCh38]
Chr1:52863338 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1313C>A (p.Thr438Asn) single nucleotide variant not provided [RCV002649471] Chr1:52388512 [GRCh38]
Chr1:52854184 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1331G>T (p.Arg444Leu) single nucleotide variant not provided [RCV002583986] Chr1:52388494 [GRCh38]
Chr1:52854166 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1864-12T>C single nucleotide variant not provided [RCV002652975] Chr1:52383581 [GRCh38]
Chr1:52849253 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.501A>G (p.Pro167=) single nucleotide variant not provided [RCV003070352] Chr1:52396266 [GRCh38]
Chr1:52861938 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1482-18G>T single nucleotide variant not provided [RCV002587799] Chr1:52385280 [GRCh38]
Chr1:52850952 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1130A>G (p.His377Arg) single nucleotide variant not provided [RCV002608783] Chr1:52389274 [GRCh38]
Chr1:52854946 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.665G>A (p.Arg222His) single nucleotide variant not provided [RCV002606087] Chr1:52396102 [GRCh38]
Chr1:52861774 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1168C>T (p.Arg390Trp) single nucleotide variant Inborn genetic diseases [RCV002635392]|not provided [RCV002635391] Chr1:52389236 [GRCh38]
Chr1:52854908 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2284T>C (p.Ser762Pro) single nucleotide variant Inborn genetic diseases [RCV003255764] Chr1:52375449 [GRCh38]
Chr1:52841121 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.186C>A (p.Asn62Lys) single nucleotide variant Inborn genetic diseases [RCV003219963] Chr1:52401399 [GRCh38]
Chr1:52867071 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.71G>A (p.Arg24Gln) single nucleotide variant Inborn genetic diseases [RCV003376987] Chr1:52402153 [GRCh38]
Chr1:52867825 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.521C>T (p.Ala174Val) single nucleotide variant Inborn genetic diseases [RCV003349944]|Meier-Gorlin syndrome 1 [RCV003636012]|not provided [RCV005104089] Chr1:52396246 [GRCh38]
Chr1:52861918 [GRCh37]
Chr1:1p32.3		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
NM_004153.4(ORC1):c.1005A>G (p.Thr335=) single nucleotide variant not provided [RCV003406491] Chr1:52393520 [GRCh38]
Chr1:52859192 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.567C>T (p.Pro189=) single nucleotide variant not provided [RCV003406492] Chr1:52396200 [GRCh38]
Chr1:52861872 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1863+13T>G single nucleotide variant not provided [RCV003661398] Chr1:52383817 [GRCh38]
Chr1:52849489 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1864-5G>T single nucleotide variant not provided [RCV003660197] Chr1:52383574 [GRCh38]
Chr1:52849246 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1503T>C (p.Pro501=) single nucleotide variant not provided [RCV003829661] Chr1:52385241 [GRCh38]
Chr1:52850913 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.721+16G>T single nucleotide variant not provided [RCV003828476] Chr1:52396030 [GRCh38]
Chr1:52861702 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.961C>T (p.Arg321Ter) single nucleotide variant Meier-Gorlin syndrome 1 [RCV005392708]|not provided [RCV003826774] Chr1:52393564 [GRCh38]
Chr1:52859236 [GRCh37]
Chr1:1p32.3		 pathogenic|likely pathogenic
NM_004153.4(ORC1):c.1380G>A (p.Lys460=) single nucleotide variant not provided [RCV003879374] Chr1:52388445 [GRCh38]
Chr1:52854117 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1863+16G>A single nucleotide variant not provided [RCV003826505] Chr1:52383814 [GRCh38]
Chr1:52849486 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.84C>T (p.Tyr28=) single nucleotide variant ORC1-related disorder [RCV003981148]|not provided [RCV003829885] Chr1:52402140 [GRCh38]
Chr1:52867812 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1863+10C>T single nucleotide variant not provided [RCV003716567] Chr1:52383820 [GRCh38]
Chr1:52849492 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1578C>T (p.Thr526=) single nucleotide variant not provided [RCV003879111] Chr1:52385166 [GRCh38]
Chr1:52850838 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1810C>T (p.Gln604Ter) single nucleotide variant not provided [RCV003811401] Chr1:52383883 [GRCh38]
Chr1:52849555 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.1383+7T>C single nucleotide variant not provided [RCV003550293] Chr1:52388435 [GRCh38]
Chr1:52854107 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1278T>G (p.Ala426=) single nucleotide variant not provided [RCV003838836] Chr1:52388547 [GRCh38]
Chr1:52854219 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2391+6CTC[2] microsatellite not provided [RCV003811657] Chr1:52374796..52374798 [GRCh38]
Chr1:52840468..52840470 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1584-12C>T single nucleotide variant not provided [RCV003838819] Chr1:52384733 [GRCh38]
Chr1:52850405 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2043T>C (p.Tyr681=) single nucleotide variant not provided [RCV003668320] Chr1:52381732 [GRCh38]
Chr1:52847404 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2273T>C (p.Met758Thr) single nucleotide variant not provided [RCV003724873] Chr1:52375460 [GRCh38]
Chr1:52841132 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2013+19C>T single nucleotide variant not provided [RCV003699252] Chr1:52383401 [GRCh38]
Chr1:52849073 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.991A>C (p.Arg331=) single nucleotide variant not provided [RCV003679286] Chr1:52393534 [GRCh38]
Chr1:52859206 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.378G>A (p.Ala126=) single nucleotide variant not provided [RCV003842288] Chr1:52397709 [GRCh38]
Chr1:52863381 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.33A>G (p.Arg11=) single nucleotide variant not provided [RCV003824165] Chr1:52402191 [GRCh38]
Chr1:52867863 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2304-8C>A single nucleotide variant not provided [RCV003676134] Chr1:52374905 [GRCh38]
Chr1:52840577 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1383+20A>T single nucleotide variant not provided [RCV003675753] Chr1:52388422 [GRCh38]
Chr1:52854094 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.591A>G (p.Ala197=) single nucleotide variant not provided [RCV003706845] Chr1:52396176 [GRCh38]
Chr1:52861848 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1863+14G>C single nucleotide variant not provided [RCV003842346] Chr1:52383816 [GRCh38]
Chr1:52849488 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.522G>A (p.Ala174=) single nucleotide variant not provided [RCV003846987] Chr1:52396245 [GRCh38]
Chr1:52861917 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.224-19T>C single nucleotide variant not provided [RCV003847015] Chr1:52397882 [GRCh38]
Chr1:52863554 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1932G>A (p.Glu644=) single nucleotide variant not provided [RCV003730936] Chr1:52383501 [GRCh38]
Chr1:52849173 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1812A>G (p.Gln604=) single nucleotide variant not provided [RCV003847543] Chr1:52383881 [GRCh38]
Chr1:52849553 [GRCh37]
Chr1:1p32.3		 likely benign
GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3 copy number gain not specified [RCV003986484] Chr1:47493178..57042671 [GRCh37]
Chr1:1p33-32.2		 likely pathogenic
NM_004153.4(ORC1):c.2014-8C>T single nucleotide variant not provided [RCV003864343] Chr1:52381769 [GRCh38]
Chr1:52847441 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1383+19del deletion not provided [RCV003706346] Chr1:52388423 [GRCh38]
Chr1:52854095 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1398G>T (p.Thr466=) single nucleotide variant not provided [RCV003720348] Chr1:52385935 [GRCh38]
Chr1:52851607 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.703_704del (p.Lys235fs) deletion not provided [RCV003868919] Chr1:52396063..52396064 [GRCh38]
Chr1:52861735..52861736 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.2193_2194del (p.Glu731fs) microsatellite Meier-Gorlin syndrome 1 [RCV005220759]|not provided [RCV003709836] Chr1:52375539..52375540 [GRCh38]
Chr1:52841211..52841212 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.1266C>T (p.Asp422=) single nucleotide variant not provided [RCV003734204] Chr1:52388559 [GRCh38]
Chr1:52854231 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.603T>C (p.Ser201=) single nucleotide variant not provided [RCV003541836] Chr1:52396164 [GRCh38]
Chr1:52861836 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1339T>C (p.Leu447=) single nucleotide variant not provided [RCV003822775] Chr1:52388486 [GRCh38]
Chr1:52854158 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.464T>C (p.Phe155Ser) single nucleotide variant Meier-Gorlin syndrome 1 [RCV003993614] Chr1:52396303 [GRCh38]
Chr1:52861975 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.430G>A (p.Val144Ile) single nucleotide variant Inborn genetic diseases [RCV004502316] Chr1:52396337 [GRCh38]
Chr1:52862009 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2471C>G (p.Ser824Cys) single nucleotide variant Inborn genetic diseases [RCV004502313] Chr1:52373296 [GRCh38]
Chr1:52838968 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.644G>A (p.Arg215Lys) single nucleotide variant Inborn genetic diseases [RCV004502317] Chr1:52396123 [GRCh38]
Chr1:52861795 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.905C>T (p.Ser302Phe) single nucleotide variant Inborn genetic diseases [RCV004502320] Chr1:52393620 [GRCh38]
Chr1:52859292 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.232C>G (p.Pro78Ala) single nucleotide variant Inborn genetic diseases [RCV004502312] Chr1:52397855 [GRCh38]
Chr1:52863527 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.254G>A (p.Arg85Gln) single nucleotide variant Inborn genetic diseases [RCV004502314] Chr1:52397833 [GRCh38]
Chr1:52863505 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2554G>T (p.Asp852Tyr) single nucleotide variant Inborn genetic diseases [RCV004502315] Chr1:52373213 [GRCh38]
Chr1:52838885 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.83A>G (p.Tyr28Cys) single nucleotide variant Inborn genetic diseases [RCV004502319] Chr1:52402141 [GRCh38]
Chr1:52867813 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.992G>A (p.Arg331Lys) single nucleotide variant Inborn genetic diseases [RCV004502321] Chr1:52393533 [GRCh38]
Chr1:52859205 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.35A>G (p.Lys12Arg) single nucleotide variant Inborn genetic diseases [RCV004661848] Chr1:52402189 [GRCh38]
Chr1:52867861 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1812A>C (p.Gln604His) single nucleotide variant Inborn genetic diseases [RCV004661847] Chr1:52383881 [GRCh38]
Chr1:52849553 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2108A>G (p.Asp703Gly) single nucleotide variant Inborn genetic diseases [RCV004661849] Chr1:52381667 [GRCh38]
Chr1:52847339 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1506G>C (p.Glu502Asp) single nucleotide variant Inborn genetic diseases [RCV004647965] Chr1:52385238 [GRCh38]
Chr1:52850910 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.614C>G (p.Ala205Gly) single nucleotide variant Inborn genetic diseases [RCV004647963] Chr1:52396153 [GRCh38]
Chr1:52861825 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1351T>G (p.Leu451Val) single nucleotide variant Inborn genetic diseases [RCV004647964] Chr1:52388474 [GRCh38]
Chr1:52854146 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.233C>T (p.Pro78Leu) single nucleotide variant Inborn genetic diseases [RCV004954239] Chr1:52397854 [GRCh38]
Chr1:52863526 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1820C>T (p.Thr607Ile) single nucleotide variant Inborn genetic diseases [RCV004954240] Chr1:52383873 [GRCh38]
Chr1:52849545 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.894G>T (p.Glu298Asp) single nucleotide variant Inborn genetic diseases [RCV004954241] Chr1:52393631 [GRCh38]
Chr1:52859303 [GRCh37]
Chr1:1p32.3		 uncertain significance
GRCh37/hg19 1p32.3(chr1:52681421-54333374)x3 copy number gain not provided [RCV004819422] Chr1:52681421..54333374 [GRCh37]
Chr1:1p32.3		 uncertain significance
GRCh37/hg19 1p34.1-22.2(chr1:44475302-89585894)x3 copy number gain not provided [RCV004819297] Chr1:44475302..89585894 [GRCh37]
Chr1:1p34.1-22.2		 pathogenic
NM_004153.4(ORC1):c.1764A>G (p.Thr588=) single nucleotide variant not provided [RCV005147312] Chr1:52383929 [GRCh38]
Chr1:52849601 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1461G>T (p.Val487=) single nucleotide variant not provided [RCV005147177] Chr1:52385872 [GRCh38]
Chr1:52851544 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1482-4G>T single nucleotide variant not provided [RCV005089074] Chr1:52385266 [GRCh38]
Chr1:52850938 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.651C>T (p.Ser217=) single nucleotide variant not provided [RCV005067817] Chr1:52396116 [GRCh38]
Chr1:52861788 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1187+13C>T single nucleotide variant not provided [RCV005146913] Chr1:52389204 [GRCh38]
Chr1:52854876 [GRCh37]
Chr1:1p32.3		 likely benign
NM_032864.4(PRPF38A):c.335C>T (p.Thr112Ile) single nucleotide variant not specified [RCV004848745] Chr1:52408613 [GRCh38]
Chr1:52874285 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.307G>C (p.Gly103Arg) single nucleotide variant not specified [RCV004848746] Chr1:52408585 [GRCh38]
Chr1:52874257 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.271C>T (p.Arg91Ter) single nucleotide variant not provided [RCV005185763] Chr1:52397816 [GRCh38]
Chr1:52863488 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.615A>G (p.Ala205=) single nucleotide variant not provided [RCV005078236] Chr1:52396152 [GRCh38]
Chr1:52861824 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.96-14C>T single nucleotide variant not provided [RCV005073152] Chr1:52401503 [GRCh38]
Chr1:52867175 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1386C>T (p.Leu462=) single nucleotide variant not provided [RCV005154526] Chr1:52385947 [GRCh38]
Chr1:52851619 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.722-17G>A single nucleotide variant not provided [RCV005156915] Chr1:52393820 [GRCh38]
Chr1:52859492 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2127C>T (p.Ala709=) single nucleotide variant not provided [RCV005080068] Chr1:52381648 [GRCh38]
Chr1:52847320 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2553G>A (p.Gln851=) single nucleotide variant not provided [RCV005081358] Chr1:52373214 [GRCh38]
Chr1:52838886 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1584-20G>A single nucleotide variant not provided [RCV005134486] Chr1:52384741 [GRCh38]
Chr1:52850413 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.722-1G>A single nucleotide variant not provided [RCV005180602] Chr1:52393804 [GRCh38]
Chr1:52859476 [GRCh37]
Chr1:1p32.3		 likely pathogenic
NM_004153.4(ORC1):c.1187+15T>C single nucleotide variant not provided [RCV005143003] Chr1:52389202 [GRCh38]
Chr1:52854874 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.2242A>C (p.Ile748Leu) single nucleotide variant not provided [RCV005159794] Chr1:52375491 [GRCh38]
Chr1:52841163 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1187G>A (p.Arg396Gln) single nucleotide variant not provided [RCV005188930] Chr1:52389217 [GRCh38]
Chr1:52854889 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.2049T>G (p.Tyr683Ter) single nucleotide variant not provided [RCV005117141] Chr1:52381726 [GRCh38]
Chr1:52847398 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_004153.4(ORC1):c.2160A>G (p.Arg720=) single nucleotide variant not provided [RCV005184093] Chr1:52375573 [GRCh38]
Chr1:52841245 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1584-11T>C single nucleotide variant not provided [RCV005155713] Chr1:52384732 [GRCh38]
Chr1:52850404 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1377G>A (p.Lys459=) single nucleotide variant not provided [RCV005079359] Chr1:52388448 [GRCh38]
Chr1:52854120 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.126C>T (p.Ser42=) single nucleotide variant not provided [RCV005138385] Chr1:52401459 [GRCh38]
Chr1:52867131 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.540A>G (p.Gln180=) single nucleotide variant not provided [RCV005183386] Chr1:52396227 [GRCh38]
Chr1:52861899 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.975G>A (p.Ser325=) single nucleotide variant not provided [RCV005200307] Chr1:52393550 [GRCh38]
Chr1:52859222 [GRCh37]
Chr1:1p32.3		 likely benign
NM_004153.4(ORC1):c.1690C>A (p.Gln564Lys) single nucleotide variant Inborn genetic diseases [RCV005395367] Chr1:52384615 [GRCh38]
Chr1:52850287 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1145del (p.Lys382fs) deletion Meier-Gorlin syndrome 1 [RCV005362288] Chr1:52389259 [GRCh38]
Chr1:52854931 [GRCh37]
Chr1:1p32.3		 likely pathogenic
NM_032864.4(PRPF38A):c.181T>C (p.Tyr61His) single nucleotide variant not specified [RCV005258766] Chr1:52405730 [GRCh38]
Chr1:52871402 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.1579G>A (p.Gly527Arg) single nucleotide variant Inborn genetic diseases [RCV005388621] Chr1:52385165 [GRCh38]
Chr1:52850837 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_004153.4(ORC1):c.791G>A (p.Arg264Gln) single nucleotide variant Inborn genetic diseases [RCV005388622] Chr1:52393734 [GRCh38]
Chr1:52859406 [GRCh37]
Chr1:1p32.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:398
Count of miRNA genes:182
Interacting mature miRNAs:186
Transcripts:ENST00000371566, ENST00000371568
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2314561GLUCO47_HGlucose level QTL 47 (human)1.1Glucose level14477336070773360Human

Markers in Region
A009U12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,838,597 - 52,838,803UniSTSGRCh37
GRCh37596,039,873 - 96,040,857UniSTSGRCh37
Build 36152,611,185 - 52,611,391RGDNCBI36
Celera591,924,312 - 91,925,296UniSTS
Celera151,125,291 - 51,125,497RGD
Cytogenetic Map1p32UniSTS
Cytogenetic Map5q15UniSTS
HuRef150,954,600 - 50,954,806UniSTS
HuRef591,230,369 - 91,231,353UniSTS
GeneMap99-GB4 RH Map1151.6UniSTS
RH79919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,838,525 - 52,838,835UniSTSGRCh37
Build 36152,611,113 - 52,611,423RGDNCBI36
Celera151,125,219 - 51,125,529RGD
Cytogenetic Map1p32UniSTS
HuRef150,954,528 - 50,954,838UniSTS
GeneMap99-GB4 RH Map1150.97UniSTS
RH80351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,838,525 - 52,838,888UniSTSGRCh37
Build 36152,611,113 - 52,611,476RGDNCBI36
Celera151,125,219 - 51,125,582RGD
Cytogenetic Map1p32UniSTS
HuRef150,954,528 - 50,954,891UniSTS
GeneMap99-GB4 RH Map1143.62UniSTS
RH120149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,850,388 - 52,850,731UniSTSGRCh37
Build 36152,622,976 - 52,623,319RGDNCBI36
Celera151,137,082 - 51,137,425RGD
Cytogenetic Map1p32UniSTS
HuRef150,966,391 - 50,966,734UniSTS
TNG Radiation Hybrid Map129084.0UniSTS
csnporc1l-pcr10-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,850,686 - 52,851,099UniSTSGRCh37
Build 36152,623,274 - 52,623,687RGDNCBI36
Celera151,137,380 - 51,137,793RGD
Cytogenetic Map1p32UniSTS
HuRef150,966,689 - 50,967,102UniSTS
csnporc1l-pcr11-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,850,099 - 52,850,507UniSTSGRCh37
Build 36152,622,687 - 52,623,095RGDNCBI36
Celera151,136,793 - 51,137,201RGD
Cytogenetic Map1p32UniSTS
HuRef150,966,102 - 50,966,510UniSTS
csnporc1l-pcr14-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,847,219 - 52,847,493UniSTSGRCh37
Build 36152,619,807 - 52,620,081RGDNCBI36
Celera151,133,913 - 51,134,187RGD
Cytogenetic Map1p32UniSTS
HuRef150,963,222 - 50,963,496UniSTS
csnporc1l-pcr16-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,840,348 - 52,840,676UniSTSGRCh37
Build 36152,612,936 - 52,613,264RGDNCBI36
Celera151,127,042 - 51,127,370RGD
Cytogenetic Map1p32UniSTS
HuRef150,956,351 - 50,956,679UniSTS
csnporc1l-pcr17-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,838,434 - 52,839,146UniSTSGRCh37
Build 36152,611,022 - 52,611,734RGDNCBI36
Celera151,125,128 - 51,125,840RGD
Cytogenetic Map1p32UniSTS
HuRef150,954,437 - 50,955,149UniSTS
csnporc1l-pcr2-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,867,638 - 52,867,992UniSTSGRCh37
Build 36152,640,226 - 52,640,580RGDNCBI36
Celera151,154,336 - 51,154,690RGD
Cytogenetic Map1p32UniSTS
HuRef150,983,583 - 50,983,937UniSTS
csnporc1l-pcr5-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,861,569 - 52,862,080UniSTSGRCh37
Build 36152,634,157 - 52,634,668RGDNCBI36
Celera151,148,263 - 51,148,774RGD
Cytogenetic Map1p32UniSTS
HuRef150,977,514 - 50,978,025UniSTS
csnporc1l-pcr6-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,858,956 - 52,859,554UniSTSGRCh37
Build 36152,631,544 - 52,632,142RGDNCBI36
Celera151,145,650 - 51,146,248RGD
Cytogenetic Map1p32UniSTS
HuRef150,974,901 - 50,975,499UniSTS
csnporc1l-pcr7-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,854,842 - 52,855,096UniSTSGRCh37
Build 36152,627,430 - 52,627,684RGDNCBI36
Celera151,141,536 - 51,141,790RGD
Cytogenetic Map1p32UniSTS
HuRef150,970,845 - 50,971,099UniSTS
csnporc1l-pcr8-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,853,957 - 52,854,410UniSTSGRCh37
Build 36152,626,545 - 52,626,998RGDNCBI36
Celera151,140,651 - 51,141,104RGD
Cytogenetic Map1p32UniSTS
HuRef150,969,960 - 50,970,413UniSTS
csnporc1l-pcr9-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,851,482 - 52,851,735UniSTSGRCh37
Build 36152,624,070 - 52,624,323RGDNCBI36
Celera151,138,176 - 51,138,429RGD
Cytogenetic Map1p32UniSTS
HuRef150,967,485 - 50,967,738UniSTS
PMC303366P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,861,854 - 52,861,939UniSTSGRCh37
Build 36152,634,442 - 52,634,527RGDNCBI36
Celera151,148,548 - 51,148,633RGD
Cytogenetic Map1p32UniSTS
HuRef150,977,799 - 50,977,884UniSTS
ORC1L_7845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,838,391 - 52,838,997UniSTSGRCh37
Build 36152,610,979 - 52,611,585RGDNCBI36
Celera151,125,085 - 51,125,691RGD
HuRef150,954,394 - 50,955,000UniSTS
RH70495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,838,593 - 52,838,852UniSTSGRCh37
Build 36152,611,181 - 52,611,440RGDNCBI36
Celera151,125,287 - 51,125,546RGD
Cytogenetic Map1p32UniSTS
HuRef150,954,596 - 50,954,855UniSTS
GeneMap99-GB4 RH Map1151.6UniSTS
NCBI RH Map1312.0UniSTS
G32836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,838,597 - 52,838,803UniSTSGRCh37
Celera151,125,291 - 51,125,497UniSTS
Cytogenetic Map1p32UniSTS
HuRef150,954,600 - 50,954,806UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1202 2438 2787 2246 4944 1723 2349 5 620 1949 463 2268 7287 6455 53 3706 849 1741 1617 174

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK291909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP280383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB156841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000371566   ⟹   ENSP00000360621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,372,831 - 52,404,387 (-)Ensembl
Ensembl Acc Id: ENST00000371568   ⟹   ENSP00000360623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,372,829 - 52,404,423 (-)Ensembl
Ensembl Acc Id: ENST00000852389   ⟹   ENSP00000522448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,372,834 - 52,404,417 (-)Ensembl
Ensembl Acc Id: ENST00000921462   ⟹   ENSP00000591521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,372,010 - 52,404,471 (-)Ensembl
Ensembl Acc Id: ENST00000921463   ⟹   ENSP00000591522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,372,494 - 52,404,469 (-)Ensembl
Ensembl Acc Id: ENST00000921464   ⟹   ENSP00000591523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,372,829 - 52,404,438 (-)Ensembl
Ensembl Acc Id: ENST00000959732   ⟹   ENSP00000629791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,372,831 - 52,402,578 (-)Ensembl
RefSeq Acc Id: NM_001190818   ⟹   NP_001177747
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,372,829 - 52,404,423 (-)NCBI
GRCh37152,838,501 - 52,870,143 (-)ENTREZGENE
HuRef150,954,504 - 50,986,088 (-)ENTREZGENE
CHM1_1152,955,878 - 52,987,524 (-)NCBI
T2T-CHM13v2.0152,254,294 - 52,285,892 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001190819   ⟹   NP_001177748
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,372,829 - 52,404,423 (-)NCBI
GRCh37152,838,501 - 52,870,143 (-)ENTREZGENE
HuRef150,954,504 - 50,986,088 (-)ENTREZGENE
CHM1_1152,955,878 - 52,987,524 (-)NCBI
T2T-CHM13v2.0152,254,294 - 52,285,892 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004153   ⟹   NP_004144
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,372,829 - 52,404,423 (-)NCBI
GRCh37152,838,501 - 52,870,143 (-)ENTREZGENE
Build 36152,611,089 - 52,642,719 (-)NCBI Archive
HuRef150,954,504 - 50,986,088 (-)ENTREZGENE
CHM1_1152,955,878 - 52,987,524 (-)NCBI
T2T-CHM13v2.0152,254,294 - 52,285,892 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541527   ⟹   XP_011539829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,372,829 - 52,393,803 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001388   ⟹   XP_016856877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,372,829 - 52,404,423 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421674   ⟹   XP_047277630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,372,829 - 52,409,503 (-)NCBI
RefSeq Acc Id: XM_047421680   ⟹   XP_047277636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,372,829 - 52,404,423 (-)NCBI
RefSeq Acc Id: XM_054336824   ⟹   XP_054192799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0152,254,294 - 52,290,972 (-)NCBI
RefSeq Acc Id: XM_054336825   ⟹   XP_054192800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0152,254,294 - 52,285,892 (-)NCBI
RefSeq Acc Id: XM_054336826   ⟹   XP_054192801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0152,254,294 - 52,285,892 (-)NCBI
RefSeq Acc Id: XM_054336827   ⟹   XP_054192802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0152,254,294 - 52,275,268 (-)NCBI
RefSeq Acc Id: NP_001177747   ⟸   NM_001190818
- Peptide Label: isoform 1
- UniProtKB: Q13471 (UniProtKB/Swiss-Prot),   D3DQ34 (UniProtKB/Swiss-Prot),   Q5T0F5 (UniProtKB/Swiss-Prot),   Q13415 (UniProtKB/Swiss-Prot),   Q96F82 (UniProtKB/TrEMBL),   A8K794 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001177748   ⟸   NM_001190819
- Peptide Label: isoform 2
- UniProtKB: B7Z8H0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004144   ⟸   NM_004153
- Peptide Label: isoform 1
- UniProtKB: Q13471 (UniProtKB/Swiss-Prot),   D3DQ34 (UniProtKB/Swiss-Prot),   Q5T0F5 (UniProtKB/Swiss-Prot),   Q13415 (UniProtKB/Swiss-Prot),   A8K794 (UniProtKB/TrEMBL),   Q96F82 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539829   ⟸   XM_011541527
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016856877   ⟸   XM_017001388
- Peptide Label: isoform X2
- UniProtKB: A8K794 (UniProtKB/TrEMBL),   Q96F82 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000360621   ⟸   ENST00000371566
Ensembl Acc Id: ENSP00000360623   ⟸   ENST00000371568
RefSeq Acc Id: XP_047277630   ⟸   XM_047421674
- Peptide Label: isoform X1
- UniProtKB: Q13471 (UniProtKB/Swiss-Prot),   Q13415 (UniProtKB/Swiss-Prot),   D3DQ34 (UniProtKB/Swiss-Prot),   Q5T0F5 (UniProtKB/Swiss-Prot),   A8K794 (UniProtKB/TrEMBL),   Q96F82 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277636   ⟸   XM_047421680
- Peptide Label: isoform X2
- UniProtKB: A8K794 (UniProtKB/TrEMBL),   Q96F82 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192799   ⟸   XM_054336824
- Peptide Label: isoform X1
- UniProtKB: Q13471 (UniProtKB/Swiss-Prot),   Q13415 (UniProtKB/Swiss-Prot),   D3DQ34 (UniProtKB/Swiss-Prot),   Q5T0F5 (UniProtKB/Swiss-Prot),   A8K794 (UniProtKB/TrEMBL),   Q96F82 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192801   ⟸   XM_054336826
- Peptide Label: isoform X2
- UniProtKB: A8K794 (UniProtKB/TrEMBL),   Q96F82 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192800   ⟸   XM_054336825
- Peptide Label: isoform X2
- UniProtKB: A8K794 (UniProtKB/TrEMBL),   Q96F82 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192802   ⟸   XM_054336827
- Peptide Label: isoform X3
Ensembl Acc Id: ENSP00000591522   ⟸   ENST00000921463
Ensembl Acc Id: ENSP00000591521   ⟸   ENST00000921462
Ensembl Acc Id: ENSP00000629791   ⟸   ENST00000959732
Ensembl Acc Id: ENSP00000522448   ⟸   ENST00000852389
Ensembl Acc Id: ENSP00000591523   ⟸   ENST00000921464
Protein Domains
BAH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13415-F1-model_v2 AlphaFold Q13415 1-861 view protein structure

Promoters
RGD ID:6855550
Promoter ID:EPDNEW_H940
Type:initiation region
Name:ORC1_1
Description:origin recognition complex subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,404,412 - 52,404,472EPDNEW
RGD ID:6786200
Promoter ID:HG_KWN:2755
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004153,   NM_032864,   OTTHUMT00000022461,   UC001CTU.1,   UC001CTW.2,   UC009VZD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36152,642,071 - 52,643,422 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8487 AgrOrtholog
COSMIC ORC1 COSMIC
Ensembl Genes ENSG00000085840 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000371566 ENTREZGENE
  ENST00000371566.1 UniProtKB/Swiss-Prot
  ENST00000371568 ENTREZGENE
  ENST00000371568.8 UniProtKB/Swiss-Prot
  ENST00000852389 ENTREZGENE
  ENST00000921462 ENTREZGENE
  ENST00000921463 ENTREZGENE
Gene3D-CATH 1.10.8.60 UniProtKB/Swiss-Prot
  2.30.30.490 UniProtKB/Swiss-Prot
  3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000085840 GTEx
HGNC ID HGNC:8487 ENTREZGENE
Human Proteome Map ORC1 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot
  AAA_lid_10 UniProtKB/Swiss-Prot
  ATPase_AAA_core UniProtKB/Swiss-Prot
  BAH_dom UniProtKB/Swiss-Prot
  BAH_sf UniProtKB/Swiss-Prot
  Cdc6_C UniProtKB/Swiss-Prot
  ORC1/CDC6 UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
KEGG Report hsa:4998 UniProtKB/Swiss-Prot
NCBI Gene 4998 ENTREZGENE
OMIM 601902 OMIM
PANTHER CELL DIVISION CONTROL PROTEIN 6-RELATED UniProtKB/Swiss-Prot
  PTHR10763:SF23 UniProtKB/Swiss-Prot
Pfam AAA UniProtKB/Swiss-Prot
  AAA_lid_10 UniProtKB/Swiss-Prot
  BAH UniProtKB/Swiss-Prot
  Cdc6_C UniProtKB/Swiss-Prot
PharmGKB PA32808 PharmGKB
PROSITE BAH UniProtKB/Swiss-Prot
SMART AAA UniProtKB/Swiss-Prot
  BAH UniProtKB/Swiss-Prot
  Cdc6_C UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt A8K794 ENTREZGENE, UniProtKB/TrEMBL
  B7Z8H0 ENTREZGENE, UniProtKB/TrEMBL
  D3DQ34 ENTREZGENE
  ORC1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q13471 ENTREZGENE
  Q5T0F5 ENTREZGENE
  Q96F82 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary D3DQ34 UniProtKB/Swiss-Prot
  Q13471 UniProtKB/Swiss-Prot
  Q5T0F5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ORC1  origin recognition complex subunit 1  ORC1  origin recognition complex, subunit 1  Symbol and/or name change 5135510 APPROVED
2011-07-27 ORC1  origin recognition complex, subunit 1  ORC1L  origin recognition complex, subunit 1-like (yeast)  Symbol and/or name change 5135510 APPROVED