ROR2 (receptor tyrosine kinase like orphan receptor 2) - Rat Genome Database

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Gene: ROR2 (receptor tyrosine kinase like orphan receptor 2) Homo sapiens
Analyze
Symbol: ROR2
Name: receptor tyrosine kinase like orphan receptor 2
RGD ID: 1313207
HGNC Page HGNC:10257
Description: Enables Wnt-protein binding activity and mitogen-activated protein kinase kinase kinase binding activity. Involved in positive regulation of cell migration and signal transduction. Predicted to be located in clathrin-coated endocytic vesicle membrane. Predicted to be part of receptor complex. Predicted to be active in glutamatergic synapse; plasma membrane; and postsynapse. Implicated in autosomal recessive Robinow syndrome; brachydactyly type B1; and cleft palate.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BDB; BDB1; LOC101927935; MGC163394; neurotrophic tyrosine kinase receptor-related 2; neurotrophic tyrosine kinase, receptor-related 2; NTRKR2; receptor tyrosine kinase-like orphan receptor 2; tyrosine-protein kinase transmembrane receptor ROR2; uncharacterized LOC101927935
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38991,722,601 - 91,950,228 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl991,563,091 - 91,950,228 (-)EnsemblGRCh38hg38GRCh38
GRCh37994,484,883 - 94,712,510 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36993,524,705 - 93,752,265 (-)NCBINCBI36Build 36hg18NCBI36
Build 34991,564,438 - 91,791,999NCBI
Celera964,921,783 - 65,148,752 (-)NCBICelera
Cytogenetic Map9q22.31NCBI
HuRef964,163,034 - 64,390,111 (-)NCBIHuRef
CHM1_1994,631,872 - 94,858,883 (-)NCBICHM1_1
T2T-CHM13v2.09103,889,331 - 104,116,677 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
astrocyte development  (IEA,ISO)
BMP signaling pathway  (ISO)
bone mineralization  (IEA,ISO)
brain-derived neurotrophic factor receptor signaling pathway  (IEA)
cartilage condensation  (ISO)
cell fate commitment  (ISO)
cell surface receptor protein tyrosine kinase signaling pathway  (IBA,IEA)
chondrocyte differentiation  (ISO)
chromatin remodeling  (IEA)
collagen-activated tyrosine kinase receptor signaling pathway  (IEA)
embryonic digit morphogenesis  (ISO)
embryonic genitalia morphogenesis  (ISO)
ephrin receptor signaling pathway  (IEA)
epidermal growth factor receptor signaling pathway  (IEA)
fibroblast growth factor receptor signaling pathway  (IEA)
hepatocyte growth factor receptor signaling pathway  (IEA)
inner ear morphogenesis  (ISO)
insulin receptor signaling pathway  (IEA)
insulin-like growth factor receptor signaling pathway  (IEA)
JNK cascade  (ISO)
Kit signaling pathway  (IEA)
macrophage colony-stimulating factor signaling pathway  (IEA)
macrophage migration  (IEA,ISO)
male genitalia development  (IEA,ISO)
modulation of chemical synaptic transmission  (IEA)
negative regulation of canonical Wnt signaling pathway  (ISO)
platelet-derived growth factor receptor-alpha signaling pathway  (IEA)
platelet-derived growth factor receptor-beta signaling pathway  (IEA)
positive regulation of canonical Wnt signaling pathway  (ISO)
positive regulation of cell migration  (IDA)
positive regulation of DNA-templated transcription  (ISO)
positive regulation of JUN kinase activity  (ISO)
positive regulation of macrophage differentiation  (IEA,ISO)
positive regulation of neuron projection development  (IBA)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IBA)
positive regulation of protein kinase C activity  (ISO)
positive regulation of synaptic transmission, glutamatergic  (IEA,ISO)
regulation of canonical Wnt signaling pathway  (ISO)
regulation of postsynapse organization  (IEA)
regulation of synaptic signaling by nitric oxide  (IEA)
signal transduction  (IMP,TAS)
skeletal system development  (ISO)
SMAD protein signal transduction  (ISO)
smoothened signaling pathway  (ISO)
somitogenesis  (ISO)
vascular endothelial growth factor receptor-1 signaling pathway  (IEA)
vascular endothelial growth factor signaling pathway  (IEA)
Wnt signaling pathway  (IEA)
Wnt signaling pathway, calcium modulating pathway  (ISO)
Wnt signaling pathway, planar cell polarity pathway  (ISO)

Cellular Component

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

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal digit morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal hip bone morphology  (IAGP)
Abnormal palate morphology  (IAGP)
Abnormal pulmonary valve morphology  (IAGP)
Abnormal tricuspid valve morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Absent uvula  (IAGP)
Alopecia  (IAGP)
Ankyloglossia  (IAGP)
Anonychia  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia involving the metacarpal bones  (IAGP)
Aplasia/Hypoplasia of the distal phalanges of the hand  (IAGP)
Aplasia/Hypoplasia of the distal phalanges of the toes  (IAGP)
Aplasia/Hypoplasia of the phalanges of the hand  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid distal phalanx of toe  (IAGP)
Bifid tongue  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Bilateral ulnar hypoplasia  (IAGP)
Blue sclerae  (IAGP)
Brachydactyly  (IAGP)
Broad hallux  (IAGP)
Broad hallux phalanx  (IAGP)
Broad thumb  (IAGP)
Broad toe  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Chronic otitis media  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clitoral hypoplasia  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous finger syndactyly  (IAGP)
Cutaneous syndactyly  (IAGP)
Death in infancy  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed eruption of permanent teeth  (IAGP)
Delayed skeletal maturation  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Dislocated radial head  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Distal symphalangism of hands  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Duplication of the distal phalanx of hand  (IAGP)
Ectopic anus  (IAGP)
Elbow dislocation  (IAGP)
Epicanthus  (IAGP)
Exaggerated cupid's bow  (IAGP)
Fetal akinesia sequence  (IAGP)
Finger syndactyly  (IAGP)
Fingernail dysplasia  (IAGP)
Flat face  (IAGP)
Frontal bossing  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hemivertebrae  (IAGP)
Hip dislocation  (IAGP)
Hydronephrosis  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplastic female external genitalia  (IAGP)
Hypoplastic fingernail  (IAGP)
Hypoplastic labia majora  (IAGP)
Hypoplastic labia minora  (IAGP)
Hypoplastic sacrum  (IAGP)
Hypospadias  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Joint contracture of the hand  (IAGP)
Joint hypermobility  (IAGP)
Kyphosis  (IAGP)
Limited pronation/supination of forearm  (IAGP)
Long eyelashes  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Malar flattening  (IAGP)
Melanocytic nevus  (IAGP)
Mesomelia  (IAGP)
Mesomelic arm shortening  (IAGP)
Microglossia  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Missing ribs  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Nail dysplasia  (IAGP)
Narrow palate  (IAGP)
Nephrocalcinosis  (IAGP)
Nephrolithiasis  (IAGP)
Nevus flammeus  (IAGP)
Open bite  (IAGP)
Orofacial cleft  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent forehead  (IAGP)
Proptosis  (IAGP)
Proximal/middle symphalangism of 5th finger  (IAGP)
Ptosis  (IAGP)
Radial bowing  (IAGP)
Radial deviation of finger  (IAGP)
Recurrent respiratory infections  (IAGP)
Renal duplication  (IAGP)
Retrognathia  (IAGP)
Rib fusion  (IAGP)
Right ventricular outlet tract obstruction  (IAGP)
Sacral dimple  (IAGP)
Sandal gap  (IAGP)
Scoliosis  (IAGP)
Short digit  (IAGP)
Short distal phalanx of finger  (IAGP)
Short long bone  (IAGP)
Short middle phalanx of finger  (IAGP)
Short middle phalanx of the 5th finger  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Single interphalangeal crease of fifth finger  (IAGP)
Single transverse palmar crease  (IAGP)
Small hand  (IAGP)
Small nail  (IAGP)
Split hand  (IAGP)
Strabismus  (IAGP)
Supernumerary tooth  (IAGP)
Syndactyly  (IAGP)
Synostosis of carpal bones  (IAGP)
Tented upper lip vermilion  (IAGP)
Tetralogy of Fallot  (IAGP)
Thin upper lip vermilion  (IAGP)
Thoracic hemivertebrae  (IAGP)
Thoracolumbar scoliosis  (IAGP)
Toe syndactyly  (IAGP)
Tooth agenesis  (IAGP)
Triangular mouth  (IAGP)
Type B brachydactyly  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral fusion  (IAGP)
Vertebral segmentation defect  (IAGP)
Wide anterior fontanel  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mutation screening in candidate genes in four Chinese brachydactyly families. Dong S, etal., Ann Clin Lab Sci. 2015 Winter;45(1):94-9.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B. Habib R, etal., Clin Dysmorphol. 2013 Apr;22(2):47-50. doi: 10.1097/MCD.0b013e32835c6c8c.
4. A new mutation in the gene ROR2 causes brachydactyly type B1. Huang D, etal., Gene. 2014 Aug 15;547(1):106-10. doi: 10.1016/j.gene.2014.06.035. Epub 2014 Jun 19.
5. [Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1]. Li CM, etal., Yi Chuan. 2011 Feb;33(2):147-52.
6. A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. Lv D, etal., J Hum Genet. 2009 Jul;54(7):422-5. doi: 10.1038/jhg.2009.48. Epub 2009 May 22.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9. The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome. Raz R, etal., Development. 2008 May;135(9):1713-23. doi: 10.1242/dev.015149. Epub 2008 Mar 19.
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Schwabe GC, etal., Dev Dyn. 2004 Feb;229(2):400-10.
14. Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome. Tamhankar PM, etal., J Clin Res Pediatr Endocrinol. 2014;6(2):79-83. doi: 10.4274/Jcrpe.1233.
15. ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population. Wang H, etal., Chin Med J (Engl). 2012 Feb;125(3):476-80.
Additional References at PubMed
PMID:1334494   PMID:9973296   PMID:10700182   PMID:10932186   PMID:10932187   PMID:10986040   PMID:11062486   PMID:12011143   PMID:12477932   PMID:12754255   PMID:12815588   PMID:12839624  
PMID:12919145   PMID:14752058   PMID:15164053   PMID:15388793   PMID:15654020   PMID:17095577   PMID:17101003   PMID:17619808   PMID:17665217   PMID:17668388   PMID:17717073   PMID:17996904  
PMID:18215320   PMID:18365018   PMID:18615587   PMID:18703641   PMID:18762249   PMID:18831060   PMID:19135982   PMID:19448672   PMID:19453261   PMID:19486338   PMID:19533773   PMID:19561643  
PMID:19640924   PMID:19724895   PMID:19802008   PMID:19851296   PMID:20098747   PMID:20185829   PMID:20198315   PMID:20301418   PMID:20591152   PMID:20634891   PMID:21069266   PMID:21342370  
PMID:21693067   PMID:21873635   PMID:22057548   PMID:22128168   PMID:22178368   PMID:22293903   PMID:22294416   PMID:22493546   PMID:22658674   PMID:22688191   PMID:22781592   PMID:22939624  
PMID:22988987   PMID:22992069   PMID:23233346   PMID:23278988   PMID:23469623   PMID:23893409   PMID:23963164   PMID:24104062   PMID:24158497   PMID:24431302   PMID:25029443   PMID:25209439  
PMID:25301559   PMID:25387569   PMID:25416956   PMID:25542006   PMID:25755786   PMID:25921289   PMID:26035863   PMID:26259918   PMID:26284319   PMID:26305508   PMID:26515598   PMID:26559837  
PMID:26596412   PMID:26638075   PMID:26690702   PMID:26708384   PMID:26771355   PMID:26862065   PMID:27440078   PMID:27631337   PMID:28065597   PMID:28127051   PMID:28277191   PMID:28465645  
PMID:28475014   PMID:28536612   PMID:28559016   PMID:28611215   PMID:28618961   PMID:28681925   PMID:29151594   PMID:29395309   PMID:29453334   PMID:29465811   PMID:30060804   PMID:30431423  
PMID:30442766   PMID:30898150   PMID:30957191   PMID:31010829   PMID:31056421   PMID:31148590   PMID:31177093   PMID:31515488   PMID:31617258   PMID:31678930   PMID:31871319   PMID:31878941  
PMID:32048761   PMID:32052562   PMID:32062451   PMID:32172608   PMID:32296183   PMID:32393512   PMID:32788342   PMID:32945438   PMID:32951408   PMID:33048444   PMID:33496066   PMID:33957083  
PMID:33961781   PMID:34079125   PMID:34080643   PMID:34278704   PMID:34349018   PMID:34369648   PMID:34702444   PMID:34709727   PMID:34763666   PMID:35032666   PMID:35198878   PMID:35344616  
PMID:35356984   PMID:35384245   PMID:35696571   PMID:36001375   PMID:36463543   PMID:36539575   PMID:36931259   PMID:36976175   PMID:37102658   PMID:37499664   PMID:37689310   PMID:37722040  
PMID:37749917   PMID:37774976   PMID:37814183   PMID:38184695   PMID:38334461   PMID:38569033   PMID:38587578   PMID:38632356   PMID:38684301   PMID:38780011   PMID:39231216   PMID:39468010  


Genomics

Comparative Map Data
ROR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38991,722,601 - 91,950,228 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl991,563,091 - 91,950,228 (-)EnsemblGRCh38hg38GRCh38
GRCh37994,484,883 - 94,712,510 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36993,524,705 - 93,752,265 (-)NCBINCBI36Build 36hg18NCBI36
Build 34991,564,438 - 91,791,999NCBI
Celera964,921,783 - 65,148,752 (-)NCBICelera
Cytogenetic Map9q22.31NCBI
HuRef964,163,034 - 64,390,111 (-)NCBIHuRef
CHM1_1994,631,872 - 94,858,883 (-)NCBICHM1_1
T2T-CHM13v2.09103,889,331 - 104,116,677 (-)NCBIT2T-CHM13v2.0
Ror2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391353,263,353 - 53,440,160 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1353,263,348 - 53,440,160 (-)EnsemblGRCm39 Ensembl
GRCm381353,109,317 - 53,286,124 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1353,109,312 - 53,286,124 (-)EnsemblGRCm38mm10GRCm38
MGSCv371353,204,686 - 53,381,478 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361353,121,749 - 53,293,643 (-)NCBIMGSCv36mm8
Celera1354,186,098 - 54,362,690 (-)NCBICelera
Cytogenetic Map13B1NCBI
cM Map1327.68NCBI
Ror2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81712,124,749 - 12,300,044 (+)NCBIGRCr8
mRatBN7.21711,972,830 - 12,148,152 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1711,972,830 - 12,148,152 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1711,902,485 - 12,082,513 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01713,505,264 - 13,680,160 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01711,822,226 - 11,997,115 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01711,953,552 - 12,134,386 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1711,953,552 - 12,134,386 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01714,049,344 - 14,228,982 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41717,735,999 - 17,917,032 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11717,736,906 - 17,919,811 (-)NCBI
Celera1711,736,765 - 11,913,446 (+)NCBICelera
Cytogenetic Map17p14NCBI
Ror2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955515313,604 - 553,774 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955515313,612 - 554,751 (+)NCBIChiLan1.0ChiLan1.0
ROR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21147,544,807 - 47,768,359 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1947,547,221 - 47,770,508 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0962,782,183 - 63,005,626 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1990,879,826 - 90,939,834 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl990,851,983 - 90,965,084 (-)Ensemblpanpan1.1panPan2
ROR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1195,209,122 - 95,280,956 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl195,088,745 - 95,280,151 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha195,543,539 - 95,729,150 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0195,696,378 - 95,881,728 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl195,696,095 - 95,881,726 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1195,323,082 - 95,508,191 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0195,049,721 - 95,234,616 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0195,808,860 - 95,994,257 (+)NCBIUU_Cfam_GSD_1.0
Ror2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494413,309,541 - 13,354,707 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936796630,756 - 674,279 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936796630,307 - 675,157 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ROR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl142,804,061 - 3,035,296 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1142,803,840 - 3,035,384 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2143,602,862 - 3,834,887 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ROR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112102,172,288 - 102,397,297 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603890,423,503 - 90,650,327 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ror2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624868479,290 - 731,650 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624868479,303 - 732,723 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ROR2
646 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004560.4(ROR2):c.2249del (p.Gly750fs) deletion Brachydactyly type B1 [RCV000007729] Chr9:91724245 [GRCh38]
Chr9:94486527 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1321_1325del (p.Arg441fs) deletion Brachydactyly type B1 [RCV000007734]|Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals [RCV000007735] Chr9:91726602..91726606 [GRCh38]
Chr9:94488884..94488888 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1937_1943del (p.Tyr646fs) deletion Autosomal recessive Robinow syndrome [RCV000007737] Chr9:91724551..91724557 [GRCh38]
Chr9:94486833..94486839 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.622+762_1184-1036del deletion Autosomal recessive Robinow syndrome [RCV000007739] Chr9:91727779..91736629 [GRCh38]
Chr9:94490061..94498911 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1366dup (p.Leu456fs) duplication Brachydactyly type B1 [RCV000007740]|not provided [RCV004589500] Chr9:91726560..91726561 [GRCh38]
Chr9:94488842..94488843 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.2244del (p.Trp749fs) deletion Brachydactyly type B1 [RCV000007741] Chr9:91724250 [GRCh38]
Chr9:94486532 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1940A>G (p.Lys647Arg) single nucleotide variant Brachydactyly type B1 [RCV002499339]|Inborn genetic diseases [RCV003279032]|not provided [RCV000727912] Chr9:91724554 [GRCh38]
Chr9:94486836 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1400A>G (p.Glu467Gly) single nucleotide variant not provided [RCV000722307] Chr9:91725094 [GRCh38]
Chr9:94487376 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1412C>T (p.Ser471Phe) single nucleotide variant Brachydactyly type B1 [RCV002493298]|not provided [RCV000722785] Chr9:91725082 [GRCh38]
Chr9:94487364 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.233C>G (p.Thr78Arg) single nucleotide variant not provided [RCV000729540] Chr9:91757502 [GRCh38]
Chr9:94519784 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2517G>C (p.Pro839=) single nucleotide variant not provided [RCV000727923] Chr9:91723977 [GRCh38]
Chr9:94486259 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2265C>A (p.Tyr755Ter) single nucleotide variant Brachydactyly type B1 [RCV000007727]|not provided [RCV002468964] Chr9:91724229 [GRCh38]
Chr9:94486511 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.2246G>A (p.Trp749Ter) single nucleotide variant Brachydactyly type B1 [RCV000007728] Chr9:91724248 [GRCh38]
Chr9:94486530 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000007730] Chr9:91724990 [GRCh38]
Chr9:94487272 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.550C>T (p.Arg184Cys) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000007731] Chr9:91737463 [GRCh38]
Chr9:94499745 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.2160G>A (p.Trp720Ter) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000007732] Chr9:91724334 [GRCh38]
Chr9:94486616 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.613C>T (p.Arg205Ter) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000007733] Chr9:91737400 [GRCh38]
Chr9:94499682 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.2247G>A (p.Trp749Ter) single nucleotide variant Brachydactyly type B1 [RCV000007736] Chr9:91724247 [GRCh38]
Chr9:94486529 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000007738]|not provided [RCV000238984] Chr9:91757380 [GRCh38]
Chr9:94519662 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000761457]|Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly [RCV000007742]|not provided [RCV003441709] Chr9:91726603 [GRCh38]
Chr9:94488885 [GRCh37]
Chr9:9q22.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.31(chr9:91870872-91952741)x3 copy number gain See cases [RCV000052233] Chr9:91870872..91952741 [GRCh38]
Chr9:94633154..94715023 [GRCh37]
Chr9:93672975..93754844 [NCBI36]
Chr9:9q22.31		 uncertain significance
GRCh38/hg38 9q22.31(chr9:91935027-92331095)x3 copy number gain See cases [RCV000052234] Chr9:91935027..92331095 [GRCh38]
Chr9:94697309..95093377 [GRCh37]
Chr9:93737130..94133198 [NCBI36]
Chr9:9q22.31		 uncertain significance
GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1 copy number loss See cases [RCV000052916] Chr9:91596533..97018746 [GRCh38]
Chr9:94358815..99781028 [GRCh37]
Chr9:93398636..98820849 [NCBI36]
Chr9:9q22.31-22.33		 pathogenic
GRCh38/hg38 9q22.31(chr9:91611565-91870931)x1 copy number loss See cases [RCV000052917] Chr9:91611565..91870931 [GRCh38]
Chr9:94373847..94633213 [GRCh37]
Chr9:93413668..93673034 [NCBI36]
Chr9:9q22.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_004560.3(ROR2):c.2377G>T (p.Ala793Ser) single nucleotide variant Malignant melanoma [RCV000068742] Chr9:91724117 [GRCh38]
Chr9:94486399 [GRCh37]
Chr9:93526220 [NCBI36]
Chr9:9q22.31		 not provided
NM_004560.4(ROR2):c.2239C>T (p.Arg747Ter) single nucleotide variant Autosomal recessive Robinow syndrome [RCV002226720]|ROR2-related disorder [RCV000779585]|not provided [RCV000657780] Chr9:91724255 [GRCh38]
Chr9:94486537 [GRCh37]
Chr9:9q22.31		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.2305C>T (p.Gln769Ter) single nucleotide variant Brachydactyly type B1 [RCV001332481]|not provided [RCV001773668] Chr9:91724189 [GRCh38]
Chr9:94486471 [GRCh37]
Chr9:9q22.31		 pathogenic|uncertain significance
NM_004560.4(ROR2):c.2236C>T (p.Leu746Phe) single nucleotide variant Short stature [RCV001310269]|not provided [RCV002543546] Chr9:91724258 [GRCh38]
Chr9:94486540 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.937+10C>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV000293352]|Brachydactyly type B1 [RCV000385746]|Brachydactyly type B1 [RCV002500510]|not provided [RCV000971909]|not specified [RCV000179444] Chr9:91733112 [GRCh38]
Chr9:94495394 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000272869]|Brachydactyly type B1 [RCV000363075]|Brachydactyly type B1 [RCV002485118]|not provided [RCV001309610]|not specified [RCV000173350] Chr9:91949957 [GRCh38]
Chr9:94712239 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance
NM_004560.4(ROR2):c.1930G>A (p.Asp644Asn) single nucleotide variant Short stature [RCV001310263]|not provided [RCV002070131] Chr9:91724564 [GRCh38]
Chr9:94486846 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_004560.4(ROR2):c.1045C>G (p.His349Asp) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000315906]|Brachydactyly type B1 [RCV000354471]|not provided [RCV000224263]|not specified [RCV000147381] Chr9:91731048 [GRCh38]
Chr9:94493330 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1710G>A (p.Pro570=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000273070]|Brachydactyly type B1 [RCV000307221]|not provided [RCV001515731]|not specified [RCV000147382] Chr9:91724784 [GRCh38]
Chr9:94487066 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.1959G>A (p.Leu653=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000147383]|Brachydactyly type B1 [RCV000374484]|not provided [RCV000886960] Chr9:91724535 [GRCh38]
Chr9:94486817 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353137]|Brachydactyly, type B1Robinow syndrome, autosomal recessive [RCV000147384]|not provided [RCV000171424] Chr9:91724524 [GRCh38]
Chr9:94486806 [GRCh37]
Chr9:9q22.31		 pathogenic|likely pathogenic|uncertain significance
NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000378747]|Brachydactyly type B1 [RCV000286668]|not provided [RCV000906153]|not specified [RCV000147385] Chr9:91724411 [GRCh38]
Chr9:94486693 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.2088C>T (p.Tyr696=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000269125]|Brachydactyly type B1 [RCV000326426]|not provided [RCV001522559]|not specified [RCV000147386] Chr9:91724406 [GRCh38]
Chr9:94486688 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.2154C>T (p.Pro718=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000327784]|Brachydactyly type B1 [RCV000384620]|not provided [RCV001514499]|not specified [RCV000147387] Chr9:91724340 [GRCh38]
Chr9:94486622 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000398258]|Brachydactyly type B1 [RCV000337021]|Brachydactyly, type B1Robinow syndrome, autosomal recessive [RCV000147388]|not provided [RCV000180603] Chr9:91724209 [GRCh38]
Chr9:94486491 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) single nucleotide variant Autosomal dominant Robinow syndrome 1 [RCV000382446]|Autosomal recessive Robinow syndrome [RCV001095340]|Brachydactyly type B1 [RCV000344414]|not provided [RCV001522558]|not specified [RCV000147389] Chr9:91724039 [GRCh38]
Chr9:94486321 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000147390]|Brachydactyly type B1 [RCV000262682]|not provided [RCV000513925]|not specified [RCV000180606] Chr9:91723689 [GRCh38]
Chr9:94485971 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.498T>C (p.Asp166=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000270797]|Brachydactyly type B1 [RCV000381562]|not provided [RCV001509912]|not specified [RCV000147391] Chr9:91737515 [GRCh38]
Chr9:94499797 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000299600]|Brachydactyly type B1 [RCV000357148]|not provided [RCV001522560]|not specified [RCV000147392] Chr9:91733326 [GRCh38]
Chr9:94495608 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004560.4(ROR2):c.75G>A (p.Leu25=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000147393]|Brachydactyly type B1 [RCV000308365]|not provided [RCV000974248]|not specified [RCV000173351] Chr9:91949889 [GRCh38]
Chr9:94712171 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.98-15G>C single nucleotide variant Autosomal recessive Robinow syndrome [RCV000312010]|Brachydactyly type B1 [RCV000352624]|not provided [RCV001709498]|not specified [RCV000147394] Chr9:91775833 [GRCh38]
Chr9:94538115 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000147395]|Brachydactyly type B1 [RCV000276095]|ROR2-related disorder [RCV004544344]|not provided [RCV000894196] Chr9:91731107 [GRCh38]
Chr9:94493389 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1 copy number loss See cases [RCV000137602] Chr9:86079851..91827221 [GRCh38]
Chr9:88694766..94589503 [GRCh37]
Chr9:87884586..93629324 [NCBI36]
Chr9:9q21.33-22.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_004560.4(ROR2):c.904C>T (p.Arg302Cys) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353133]|Brachydactyly type B1 [RCV002503756]|not specified [RCV000193988] Chr9:91733155 [GRCh38]
Chr9:94495437 [GRCh37]
Chr9:9q22.31		 pathogenic|likely pathogenic|uncertain significance
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000779586]|Brachydactyly type B1 [RCV001166901]|not provided [RCV001511051]|not specified [RCV000179445] Chr9:91733329 [GRCh38]
Chr9:94495611 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.1054A>G (p.Ser352Gly) single nucleotide variant not provided [RCV000179888] Chr9:91731039 [GRCh38]
Chr9:94493321 [GRCh37]
Chr9:9q22.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.1339T>G (p.Ser447Ala) single nucleotide variant not provided [RCV000180263] Chr9:91726588 [GRCh38]
Chr9:94488870 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1251C>T (p.Val417=) single nucleotide variant not provided [RCV000180264] Chr9:91726676 [GRCh38]
Chr9:94488958 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.298G>A (p.Ala100Thr) single nucleotide variant not provided [RCV000724079]|not specified [RCV000177208] Chr9:91757437 [GRCh38]
Chr9:94519719 [GRCh37]
Chr9:9q22.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.372C>T (p.Asp124=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000286337]|Brachydactyly type B1 [RCV000341308]|Brachydactyly type B1 [RCV002485156]|not provided [RCV000969995]|not specified [RCV000246827] Chr9:91757363 [GRCh38]
Chr9:94519645 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000285938]|Brachydactyly type B1 [RCV000343192]|ROR2-related disorder [RCV004537514]|not provided [RCV000180604] Chr9:91724099 [GRCh38]
Chr9:94486381 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.*16G>A single nucleotide variant Autosomal recessive Robinow syndrome [RCV000357547]|Brachydactyly type B1 [RCV000305022]|not provided [RCV001689719]|not specified [RCV000180605] Chr9:91723646 [GRCh38]
Chr9:94485928 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000660425]|Brachydactyly type B1 [RCV002503700]|not provided [RCV000180607] Chr9:91724414 [GRCh38]
Chr9:94486696 [GRCh37]
Chr9:9q22.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.2466C>T (p.Asn822=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000291795]|Brachydactyly type B1 [RCV000383743]|not provided [RCV000907683]|not specified [RCV000266094] Chr9:91724028 [GRCh38]
Chr9:94486310 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.2727G>A (p.Val909=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000353928]|Brachydactyly type B1 [RCV000261324]|not provided [RCV000961951]|not specified [RCV000264658] Chr9:91723767 [GRCh38]
Chr9:94486049 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000279061]|Brachydactyly type B1 [RCV000509126]|not provided [RCV000891712]|not specified [RCV000288113] Chr9:91724905 [GRCh38]
Chr9:94487187 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance|not provided
NM_004560.4(ROR2):c.1686C>T (p.His562=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000267312]|Brachydactyly type B1 [RCV000364214]|ROR2-related disorder [RCV004535258]|not provided [RCV000953607]|not specified [RCV000354763] Chr9:91724808 [GRCh38]
Chr9:94487090 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000329348]|Brachydactyly type B1 [RCV000271810]|not provided [RCV000337531] Chr9:91737445 [GRCh38]
Chr9:94499727 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.678C>T (p.Phe226=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000368671]|Brachydactyly type B1 [RCV000330462]|not provided [RCV000331211] Chr9:91733381 [GRCh38]
Chr9:94495663 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000324883]|Brachydactyly type B1 [RCV000377123]|Inborn genetic diseases [RCV002519120]|not provided [RCV000406751] Chr9:91724824 [GRCh38]
Chr9:94487106 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.1712A>G (p.His571Arg) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000365373]|Brachydactyly type B1 [RCV000312844]|Brachydactyly type B1 [RCV002480043]|not provided [RCV000907684]|not specified [RCV000273411] Chr9:91724782 [GRCh38]
Chr9:94487064 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000395654]|Brachydactyly type B1 [RCV000314104]|ROR2-related disorder [RCV004543050]|not provided [RCV000324852] Chr9:91724738 [GRCh38]
Chr9:94487020 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000389667]|Brachydactyly type B1 [RCV000332907]|not provided [RCV000330356] Chr9:91723810 [GRCh38]
Chr9:94486092 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004560.4(ROR2):c.1770C>T (p.Pro590=) single nucleotide variant not provided [RCV002058167]|not specified [RCV000253617] Chr9:91724724 [GRCh38]
Chr9:94487006 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.938-33C>T single nucleotide variant not provided [RCV001618433]|not specified [RCV000244669] Chr9:91731188 [GRCh38]
Chr9:94493470 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.494+25G>A single nucleotide variant Autosomal recessive Robinow syndrome [RCV001795453]|Brachydactyly type B1 [RCV001795452]|not provided [RCV001640532]|not specified [RCV000249961] Chr9:91756046 [GRCh38]
Chr9:94518328 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1184-39A>T single nucleotide variant not specified [RCV000245752] Chr9:91726782 [GRCh38]
Chr9:94489064 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1234A>G (p.Ile412Val) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000401531]|Brachydactyly type B1 [RCV000302280] Chr9:91726693 [GRCh38]
Chr9:94488975 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.*520C>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV000320989]|Brachydactyly type B1 [RCV000375734] Chr9:91723142 [GRCh38]
Chr9:94485424 [GRCh37]
Chr9:9q22.31		 benign|uncertain significance
NM_004560.4(ROR2):c.2314T>A (p.Ser772Thr) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000303094]|Brachydactyly type B1 [RCV000397085] Chr9:91724180 [GRCh38]
Chr9:94486462 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.*558C>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV000269046]|Brachydactyly type B1 [RCV000324079] Chr9:91723104 [GRCh38]
Chr9:94485386 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.751C>T (p.Leu251=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000286613]|Brachydactyly type B1 [RCV000403944]|ROR2-related disorder [RCV004530493]|not provided [RCV000933747] Chr9:91733308 [GRCh38]
Chr9:94495590 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.471G>A (p.Thr157=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000380521]|Brachydactyly type B1 [RCV000323552]|Brachydactyly type B1 [RCV002504196]|not provided [RCV000906005] Chr9:91756094 [GRCh38]
Chr9:94518376 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.*1016T>G single nucleotide variant Autosomal recessive Robinow syndrome [RCV000340496]|Brachydactyly type B1 [RCV000286975]|not provided [RCV004712773] Chr9:91722646 [GRCh38]
Chr9:94484928 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1416G>A (p.Ala472=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000347862]|Brachydactyly type B1 [RCV000397540]|not provided [RCV001464193] Chr9:91725078 [GRCh38]
Chr9:94487360 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.864G>A (p.Ala288=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000287985]|Brachydactyly type B1 [RCV000345180]|not provided [RCV000900090] Chr9:91733195 [GRCh38]
Chr9:94495477 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.935G>A (p.Arg312His) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000384676]|Brachydactyly type B1 [RCV000327244]|ROR2-related disorder [RCV004544717]|Short stature [RCV001310265]|not provided [RCV002058819] Chr9:91733124 [GRCh38]
Chr9:94495406 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance
NM_004560.4(ROR2):c.-154G>C single nucleotide variant Autosomal recessive Robinow syndrome [RCV000398130]|Brachydactyly type B1 [RCV000350680] Chr9:91950117 [GRCh38]
Chr9:94712399 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.*229C>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV000351316]|Brachydactyly type B1 [RCV000397429]|not provided [RCV001591042] Chr9:91723433 [GRCh38]
Chr9:94485715 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000290524]|Brachydactyly type B1 [RCV000397545]|not provided [RCV000731519] Chr9:91725046 [GRCh38]
Chr9:94487328 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.1307C>T (p.Ala436Val) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000360660]|Brachydactyly type B1 [RCV000308020]|Inborn genetic diseases [RCV002524607]|not provided [RCV002058818] Chr9:91726620 [GRCh38]
Chr9:94488902 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance
NM_004560.4(ROR2):c.*170AG[1] microsatellite Autosomal dominant Robinow syndrome 1 [RCV000397410]|Brachydactyly [RCV000308467]|not provided [RCV001692081] Chr9:91723487..91723490 [GRCh38]
Chr9:94485769..94485772 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.*682C>G single nucleotide variant Autosomal recessive Robinow syndrome [RCV000363658]|Brachydactyly type B1 [RCV000309031] Chr9:91722980 [GRCh38]
Chr9:94485262 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1720G>T (p.Val574Leu) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000352520]|Brachydactyly type B1 [RCV000400229]|not provided [RCV002523820] Chr9:91724774 [GRCh38]
Chr9:94487056 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance
NM_004560.4(ROR2):c.2190C>T (p.Asn730=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000275056]|Brachydactyly type B1 [RCV000367313]|not provided [RCV002058817] Chr9:91724304 [GRCh38]
Chr9:94486586 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance
NM_004560.4(ROR2):c.-36A>G single nucleotide variant Autosomal recessive Robinow syndrome [RCV000309212]|Brachydactyly type B1 [RCV000359270] Chr9:91949999 [GRCh38]
Chr9:94712281 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000276157]|Brachydactyly type B1 [RCV000314957]|ROR2-related disorder [RCV004530491]|Short stature [RCV001310262]|not provided [RCV002523819] Chr9:91724282 [GRCh38]
Chr9:94486564 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance
NM_004560.4(ROR2):c.*180C>A single nucleotide variant Autosomal recessive Robinow syndrome [RCV000293163]|Brachydactyly type B1 [RCV000347975] Chr9:91723482 [GRCh38]
Chr9:94485764 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2649G>A (p.Met883Ile) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000331525]|Brachydactyly type B1 [RCV000293100]|not provided [RCV001861351] Chr9:91723845 [GRCh38]
Chr9:94486127 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.*736A>G single nucleotide variant Autosomal recessive Robinow syndrome [RCV000312100]|Brachydactyly type B1 [RCV000399174]|not provided [RCV002285323] Chr9:91722926 [GRCh38]
Chr9:94485208 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.-91G>A single nucleotide variant Autosomal recessive Robinow syndrome [RCV000261212]|Brachydactyly type B1 [RCV000379180]|not provided [RCV001558892] Chr9:91950054 [GRCh38]
Chr9:94712336 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.702C>T (p.Phe234=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000369670]|Brachydactyly type B1 [RCV000277682]|not provided [RCV002058821] Chr9:91733357 [GRCh38]
Chr9:94495639 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.*766T>C single nucleotide variant Autosomal dominant Robinow syndrome 1 [RCV000352288]|Brachydactyly [RCV000278490] Chr9:91722896 [GRCh38]
Chr9:94485178 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.-135G>C single nucleotide variant Autosomal recessive Robinow syndrome [RCV000385667]|Brachydactyly type B1 [RCV000295759] Chr9:91950098 [GRCh38]
Chr9:94712380 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.*886G>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV000336945]|Brachydactyly type B1 [RCV000393410] Chr9:91722776 [GRCh38]
Chr9:94485058 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.153C>T (p.Asp51=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000337763]|Brachydactyly type B1 [RCV000395571]|ROR2-related disorder [RCV004544718]|not provided [RCV000899530] Chr9:91775763 [GRCh38]
Chr9:94538045 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.1184-10T>C single nucleotide variant Autosomal recessive Robinow syndrome [RCV000359431]|Brachydactyly type B1 [RCV000263077] Chr9:91726753 [GRCh38]
Chr9:94489035 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.*245A>G single nucleotide variant Autosomal recessive Robinow syndrome [RCV000296399]|Brachydactyly type B1 [RCV000372063]|not provided [RCV002285324] Chr9:91723417 [GRCh38]
Chr9:94485699 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.1491G>A (p.Pro497=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000349239]|Brachydactyly type B1 [RCV000296550]|ROR2-related disorder [RCV004530492]|not provided [RCV000903900] Chr9:91725003 [GRCh38]
Chr9:94487285 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance
NM_004560.4(ROR2):c.2277G>A (p.Ala759=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000354523]|Brachydactyly type B1 [RCV000297240]|not provided [RCV003766112] Chr9:91724217 [GRCh38]
Chr9:94486499 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance
NM_004560.4(ROR2):c.*135G>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV000363114]|Brachydactyly type B1 [RCV000401563]|Brachydactyly type B1 [RCV002480256] Chr9:91723527 [GRCh38]
Chr9:94485809 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.-60G>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV000324615]|Brachydactyly type B1 [RCV000264551] Chr9:91950023 [GRCh38]
Chr9:94712305 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.1642C>T (p.Pro548Ser) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000265108]|Brachydactyly type B1 [RCV000319060]|not provided [RCV000961952] Chr9:91724852 [GRCh38]
Chr9:94487134 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.-121A>C single nucleotide variant Autosomal recessive Robinow syndrome [RCV000280726]|Brachydactyly type B1 [RCV000349772] Chr9:91950084 [GRCh38]
Chr9:94712366 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.*487C>G single nucleotide variant Autosomal recessive Robinow syndrome [RCV000317349]|Brachydactyly type B1 [RCV000281231] Chr9:91723175 [GRCh38]
Chr9:94485457 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.717C>T (p.Cys239=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000401720]|Brachydactyly type B1 [RCV000298671]|Brachydactyly type B1 [RCV002504195]|not provided [RCV000881890] Chr9:91733342 [GRCh38]
Chr9:94495624 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.-102G>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV000316428]|Brachydactyly type B1 [RCV000375208]|Brachydactyly type B1 [RCV002480257] Chr9:91950065 [GRCh38]
Chr9:94712347 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.744G>A (p.Pro248=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000397233]|Brachydactyly type B1 [RCV000339264]|ROR2-related disorder [RCV004530494]|not provided [RCV002058820] Chr9:91733315 [GRCh38]
Chr9:94495597 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.*521G>A single nucleotide variant Autosomal recessive Robinow syndrome [RCV000265904]|Brachydactyly type B1 [RCV000360137] Chr9:91723141 [GRCh38]
Chr9:94485423 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.*927C>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV000281887]|Brachydactyly type B1 [RCV000376446] Chr9:91722735 [GRCh38]
Chr9:94485017 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.1820C>T (p.Ser607Phe) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000335096]|Brachydactyly type B1 [RCV000282386]|not provided [RCV003422376] Chr9:91724674 [GRCh38]
Chr9:94486956 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1552C>T (p.Arg518Trp) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000317822]|Brachydactyly type B1 [RCV000388602]|Brachydactyly type B1 [RCV002481260] Chr9:91724942 [GRCh38]
Chr9:94487224 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.276C>T (p.Asn92=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000282689]|Brachydactyly type B1 [RCV000372574]|not provided [RCV000961953] Chr9:91757459 [GRCh38]
Chr9:94519741 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.*712C>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV000366805]|Brachydactyly type B1 [RCV000400639]|not provided [RCV001692080] Chr9:91722950 [GRCh38]
Chr9:94485232 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.380C>T (p.Thr127Met) single nucleotide variant not provided [RCV000376962] Chr9:91757355 [GRCh38]
Chr9:94519637 [GRCh37]
Chr9:9q22.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001169179]|Brachydactyly type B1 [RCV001169178]|ROR2-related disorder [RCV004542985]|not provided [RCV000312525] Chr9:91724758 [GRCh38]
Chr9:94487040 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.233C>T (p.Thr78Met) single nucleotide variant not provided [RCV000388915] Chr9:91757502 [GRCh38]
Chr9:94519784 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1736A>G (p.Asp579Gly) single nucleotide variant not provided [RCV000391310] Chr9:91724758 [GRCh38]
Chr9:94487040 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.51C>A (p.Ala17=) single nucleotide variant not provided [RCV000395548] Chr9:91949913 [GRCh38]
Chr9:94712195 [GRCh37]
Chr9:9q22.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.1565G>A (p.Arg522Gln) single nucleotide variant Inborn genetic diseases [RCV002518815]|not provided [RCV000293401] Chr9:91724929 [GRCh38]
Chr9:94487211 [GRCh37]
Chr9:9q22.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.2445G>A (p.Pro815=) single nucleotide variant ROR2-related disorder [RCV004535425]|not provided [RCV000361595] Chr9:91724049 [GRCh38]
Chr9:94486331 [GRCh37]
Chr9:9q22.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.2240G>A (p.Arg747Gln) single nucleotide variant Inborn genetic diseases [RCV002519220]|not provided [RCV000659115] Chr9:91724254 [GRCh38]
Chr9:94486536 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2155G>A (p.Ala719Thr) single nucleotide variant Brachydactyly type B1 [RCV002487235]|not provided [RCV000363220] Chr9:91724339 [GRCh38]
Chr9:94486621 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1885G>A (p.Val629Met) single nucleotide variant Brachydactyly type B1 [RCV002487234]|not provided [RCV000399951] Chr9:91724609 [GRCh38]
Chr9:94486891 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1153C>T (p.Arg385Cys) single nucleotide variant not provided [RCV000263816] Chr9:91730940 [GRCh38]
Chr9:94493222 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2489A>G (p.Tyr830Cys) single nucleotide variant Inborn genetic diseases [RCV002518078]|not provided [RCV000296968] Chr9:91724005 [GRCh38]
Chr9:94486287 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.822C>T (p.Asn274=) single nucleotide variant not provided [RCV000297018] Chr9:91733237 [GRCh38]
Chr9:94495519 [GRCh37]
Chr9:9q22.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.2130_2151dup (p.Pro718delinsAlaAlaLeuProArgTer) duplication not provided [RCV000395342] Chr9:91724342..91724343 [GRCh38]
Chr9:94486624..94486625 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1671G>A (p.Ser557=) single nucleotide variant not provided [RCV000332851] Chr9:91724823 [GRCh38]
Chr9:94487105 [GRCh37]
Chr9:9q22.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.174A>G (p.Lys58=) single nucleotide variant not provided [RCV000370250] Chr9:91775742 [GRCh38]
Chr9:94538024 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001168499]|Brachydactyly type B1 [RCV001168500]|Inborn genetic diseases [RCV002532489]|not provided [RCV000597656] Chr9:91724911 [GRCh38]
Chr9:94487193 [GRCh37]
Chr9:9q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.1490C>T (p.Pro497Leu) single nucleotide variant Brachydactyly type B1 [RCV002497269]|not provided [RCV000592155] Chr9:91725004 [GRCh38]
Chr9:94487286 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.566_569dup (p.Ile191fs) duplication not provided [RCV000598728] Chr9:91737443..91737444 [GRCh38]
Chr9:94499725..94499726 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.234G>A (p.Thr78=) single nucleotide variant not provided [RCV000593398] Chr9:91757501 [GRCh38]
Chr9:94519783 [GRCh37]
Chr9:9q22.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.37C>G (p.Leu13Val) single nucleotide variant Brachydactyly type B1 [RCV002493319]|ROR2-related disorder [RCV004540048]|not provided [RCV000730048] Chr9:91949927 [GRCh38]
Chr9:94712209 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1236C>T (p.Ile412=) single nucleotide variant not provided [RCV000730621] Chr9:91726691 [GRCh38]
Chr9:94488973 [GRCh37]
Chr9:9q22.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.938-6G>C single nucleotide variant not provided [RCV000730296] Chr9:91731161 [GRCh38]
Chr9:94493443 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2424C>T (p.Ile808=) single nucleotide variant not provided [RCV000731069] Chr9:91724070 [GRCh38]
Chr9:94486352 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1966A>G (p.Ile656Val) single nucleotide variant not provided [RCV000731077] Chr9:91724528 [GRCh38]
Chr9:94486810 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2582C>T (p.Ser861Leu) single nucleotide variant not provided [RCV000734005] Chr9:91723912 [GRCh38]
Chr9:94486194 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) single nucleotide variant Fetal akinesia deformation sequence 1 [RCV000855500]|Short stature [RCV001310261]|not provided [RCV000903196]|not specified [RCV000732649] Chr9:91724819 [GRCh38]
Chr9:94487101 [GRCh37]
Chr9:9q22.31		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004560.4(ROR2):c.2286G>A (p.Ser762=) single nucleotide variant not provided [RCV000596777] Chr9:91724208 [GRCh38]
Chr9:94486490 [GRCh37]
Chr9:9q22.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.2461G>A (p.Val821Ile) single nucleotide variant ROR2-related disorder [RCV004543363]|not provided [RCV000597971] Chr9:91724033 [GRCh38]
Chr9:94486315 [GRCh37]
Chr9:9q22.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.902T>C (p.Met301Thr) single nucleotide variant Inborn genetic diseases [RCV003300042]|not provided [RCV003777086] Chr9:91733157 [GRCh38]
Chr9:94495439 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2628G>A (p.Thr876=) single nucleotide variant not provided [RCV000594530] Chr9:91723866 [GRCh38]
Chr9:94486148 [GRCh37]
Chr9:9q22.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.871A>G (p.Met291Val) single nucleotide variant Brachydactyly type B1 [RCV002483574]|not provided [RCV000595147] Chr9:91733188 [GRCh38]
Chr9:94495470 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1105G>A (p.Gly369Arg) single nucleotide variant Brachydactyly type B1 [RCV002490926]|not provided [RCV000524072] Chr9:91730988 [GRCh38]
Chr9:94493270 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_004560.4(ROR2):c.808A>G (p.Ile270Val) single nucleotide variant Fetal akinesia deformation sequence 1 [RCV000855499]|not provided [RCV000597894] Chr9:91733251 [GRCh38]
Chr9:94495533 [GRCh37]
Chr9:9q22.31		 likely pathogenic|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004560.4(ROR2):c.1322G>A (p.Arg441Gln) single nucleotide variant Brachydactyly type B1 [RCV002485502]|Inborn genetic diseases [RCV003243244]|not provided [RCV000659116] Chr9:91726605 [GRCh38]
Chr9:94488887 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1868T>C (p.Val623Ala) single nucleotide variant not provided [RCV000658037] Chr9:91724626 [GRCh38]
Chr9:94486908 [GRCh37]
Chr9:9q22.31		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004560.4(ROR2):c.2613A>C (p.Thr871=) single nucleotide variant Brachydactyly type B1 [RCV002502619]|not provided [RCV000895714] Chr9:91723881 [GRCh38]
Chr9:94486163 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.937+118C>T single nucleotide variant not provided [RCV001693336] Chr9:91733004 [GRCh38]
Chr9:94495286 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1386+25C>T single nucleotide variant not provided [RCV001583655] Chr9:91726516 [GRCh38]
Chr9:94488798 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.623-22G>A single nucleotide variant not provided [RCV001679293] Chr9:91733458 [GRCh38]
Chr9:94495740 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.989C>T (p.Thr330Ile) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166842]|Brachydactyly type B1 [RCV001166841] Chr9:91731104 [GRCh38]
Chr9:94493386 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1154G>A (p.Arg385His) single nucleotide variant Brachydactyly type B1 [RCV002489654]|not provided [RCV001058431] Chr9:91730939 [GRCh38]
Chr9:94493221 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.98-288C>T single nucleotide variant not provided [RCV001648247] Chr9:91776106 [GRCh38]
Chr9:94538388 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1300G>A (p.Ala434Thr) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166323]|Brachydactyly type B1 [RCV001166322] Chr9:91726627 [GRCh38]
Chr9:94488909 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2133G>A (p.Leu711=) single nucleotide variant not provided [RCV000904964] Chr9:91724361 [GRCh38]
Chr9:94486643 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1716G>A (p.Ser572=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001169181]|Brachydactyly type B1 [RCV001169180]|not provided [RCV000902740] Chr9:91724778 [GRCh38]
Chr9:94487060 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.1830C>T (p.His610=) single nucleotide variant not provided [RCV000906937] Chr9:91724664 [GRCh38]
Chr9:94486946 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2451C>T (p.Leu817=) single nucleotide variant Brachydactyly type B1 [RCV002502685]|not provided [RCV000904998] Chr9:91724043 [GRCh38]
Chr9:94486325 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.825G>A (p.Pro275=) single nucleotide variant not provided [RCV000926683] Chr9:91733234 [GRCh38]
Chr9:94495516 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.828C>T (p.Leu276=) single nucleotide variant not provided [RCV000914475] Chr9:91733231 [GRCh38]
Chr9:94495513 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1647G>A (p.Leu549=) single nucleotide variant not provided [RCV000927513] Chr9:91724847 [GRCh38]
Chr9:94487129 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.435C>T (p.Thr145=) single nucleotide variant ROR2-related disorder [RCV004535984]|not provided [RCV000975426] Chr9:91757300 [GRCh38]
Chr9:94519582 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.306G>A (p.Val102=) single nucleotide variant not provided [RCV000928643] Chr9:91757429 [GRCh38]
Chr9:94519711 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2586C>T (p.His862=) single nucleotide variant Brachydactyly type B1 [RCV002489449]|not provided [RCV000982227] Chr9:91723908 [GRCh38]
Chr9:94486190 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2682T>G (p.Ala894=) single nucleotide variant not provided [RCV000924252] Chr9:91723812 [GRCh38]
Chr9:94486094 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2399A>C (p.Gln800Pro) single nucleotide variant not provided [RCV000915253] Chr9:91724095 [GRCh38]
Chr9:94486377 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1017G>A (p.Pro339=) single nucleotide variant not provided [RCV000899262] Chr9:91731076 [GRCh38]
Chr9:94493358 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1860T>C (p.Asn620=) single nucleotide variant not provided [RCV000926128] Chr9:91724634 [GRCh38]
Chr9:94486916 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.255G>A (p.Val85=) single nucleotide variant not provided [RCV000968889] Chr9:91757480 [GRCh38]
Chr9:94519762 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1707G>A (p.Ser569=) single nucleotide variant not provided [RCV000983341] Chr9:91724787 [GRCh38]
Chr9:94487069 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2349C>T (p.Asn783=) single nucleotide variant not provided [RCV000983649] Chr9:91724145 [GRCh38]
Chr9:94486427 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1737T>C (p.Asp579=) single nucleotide variant not provided [RCV000929145] Chr9:91724757 [GRCh38]
Chr9:94487039 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1353_1360del (p.Met452fs) deletion Autosomal recessive Robinow syndrome [RCV001548753] Chr9:91726567..91726574 [GRCh38]
Chr9:94488849..94488856 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1565_1569delinsTGTA (p.Arg522fs) indel Autosomal recessive Robinow syndrome [RCV000855448] Chr9:91724925..91724929 [GRCh38]
Chr9:94487207..94487211 [GRCh37]
Chr9:9q22.31		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004560.4(ROR2):c.721G>A (p.Ala241Thr) single nucleotide variant Brachydactyly type B1 [RCV002487999]|Inborn genetic diseases [RCV004029477]|not provided [RCV000922535] Chr9:91733338 [GRCh38]
Chr9:94495620 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2757T>C (p.Ser919=) single nucleotide variant not provided [RCV000901351] Chr9:91723737 [GRCh38]
Chr9:94486019 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1222T>C (p.Leu408=) single nucleotide variant not provided [RCV000936708] Chr9:91726705 [GRCh38]
Chr9:94488987 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.981G>C (p.Thr327=) single nucleotide variant not provided [RCV000915338] Chr9:91731112 [GRCh38]
Chr9:94493394 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2454C>T (p.Tyr818=) single nucleotide variant not provided [RCV000880033] Chr9:91724040 [GRCh38]
Chr9:94486322 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1776C>T (p.Phe592=) single nucleotide variant not provided [RCV000900561] Chr9:91724718 [GRCh38]
Chr9:94487000 [GRCh37]
Chr9:9q22.31		 likely benign
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32		 pathogenic
NM_004560.4(ROR2):c.323G>A (p.Arg108Gln) single nucleotide variant Autosomal recessive Robinow syndrome [RCV000855449] Chr9:91757412 [GRCh38]
Chr9:94519694 [GRCh37]
Chr9:9q22.31		 likely pathogenic
GRCh37/hg19 9q22.31(chr9:94667669-95345847)x3 copy number gain not provided [RCV000847811] Chr9:94667669..95345847 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1596A>G (p.Gln532=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166787]|Brachydactyly type B1 [RCV001166786]|not provided [RCV002067814] Chr9:91724898 [GRCh38]
Chr9:94487180 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance
NM_004560.4(ROR2):c.722C>A (p.Ala241Glu) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166903]|Brachydactyly type B1 [RCV001166902]|not provided [RCV001751297] Chr9:91733337 [GRCh38]
Chr9:94495619 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.155G>A (p.Gly52Asp) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001169381]|Brachydactyly type B1 [RCV001169382]|not provided [RCV002068039] Chr9:91775761 [GRCh38]
Chr9:94538043 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.2208G>T (p.Arg736=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166212]|Brachydactyly type B1 [RCV001166211] Chr9:91724286 [GRCh38]
Chr9:94486568 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.-118C>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV001168686]|Brachydactyly type B1 [RCV001168687] Chr9:91950081 [GRCh38]
Chr9:94712363 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.146G>T (p.Gly49Val) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166439]|Brachydactyly type B1 [RCV001166440] Chr9:91775770 [GRCh38]
Chr9:94538052 [GRCh37]
Chr9:9q22.31		 benign|uncertain significance
NM_004560.4(ROR2):c.2458C>G (p.Pro820Ala) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166643]|Brachydactyly type B1 [RCV001166642] Chr9:91724036 [GRCh38]
Chr9:94486318 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1995G>C (p.Met665Ile) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166717]|Brachydactyly type B1 [RCV001166716] Chr9:91724499 [GRCh38]
Chr9:94486781 [GRCh37]
Chr9:9q22.31		 benign|uncertain significance
NM_004560.4(ROR2):c.*46C>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV001169058]|Brachydactyly type B1 [RCV001169057] Chr9:91723616 [GRCh38]
Chr9:94485898 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.938-15G>A single nucleotide variant Autosomal recessive Robinow syndrome [RCV001168555]|Brachydactyly type B1 [RCV001168556] Chr9:91731170 [GRCh38]
Chr9:94493452 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2242G>T (p.Ala748Ser) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001169141]|Brachydactyly type B1 [RCV001169140] Chr9:91724252 [GRCh38]
Chr9:94486534 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1956G>A (p.Ser652=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001168441]|Brachydactyly type B1 [RCV001168440]|not provided [RCV002559617] Chr9:91724538 [GRCh38]
Chr9:94486820 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.2274G>A (p.Ser758=) single nucleotide variant Brachydactyly type B1 [RCV002495404]|not provided [RCV000893708]|not specified [RCV001818688] Chr9:91724220 [GRCh38]
Chr9:94486502 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.179A>C (p.Tyr60Ser) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001169379]|Brachydactyly type B1 [RCV001169380] Chr9:91757556 [GRCh38]
Chr9:94519838 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q21.33-22.31(chr9:90002910-94567835)x3 copy number gain not provided [RCV001006243] Chr9:90002910..94567835 [GRCh37]
Chr9:9q21.33-22.31		 likely pathogenic
NM_004560.4(ROR2):c.1644C>A (p.Pro548=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166784]|Brachydactyly type B1 [RCV001166785] Chr9:91724850 [GRCh38]
Chr9:94487132 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1870T>A (p.Tyr624Asn) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001168442]|Brachydactyly type B1 [RCV001168443] Chr9:91724624 [GRCh38]
Chr9:94486906 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1566G>T (p.Arg522=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001168502]|Brachydactyly type B1 [RCV001168501] Chr9:91724928 [GRCh38]
Chr9:94487210 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2264dup (p.Tyr755Ter) duplication not provided [RCV001008721] Chr9:91724229..91724230 [GRCh38]
Chr9:94486511..94486512 [GRCh37]
Chr9:9q22.31		 likely pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_004560.4(ROR2):c.*125C>A single nucleotide variant Autosomal recessive Robinow syndrome [RCV001168321]|Brachydactyly type B1 [RCV001168320] Chr9:91723537 [GRCh38]
Chr9:94485819 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.*398G>C single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166571]|Brachydactyly type B1 [RCV001166572] Chr9:91723264 [GRCh38]
Chr9:94485546 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.*369G>C single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166574]|Brachydactyly type B1 [RCV001166573] Chr9:91723293 [GRCh38]
Chr9:94485575 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2142C>T (p.Pro714=) single nucleotide variant not provided [RCV003106455] Chr9:91724352 [GRCh38]
Chr9:94486634 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1969C>T (p.Arg657Cys) single nucleotide variant ROR2-related disorder [RCV004734227]|not provided [RCV001546462] Chr9:91724525 [GRCh38]
Chr9:94486807 [GRCh37]
Chr9:9q22.31		 likely pathogenic|uncertain significance
NC_000009.11:g.(?_94058283)_(94538120_?)dup duplication 3-methylglutaconic aciduria type 1 [RCV003107451]|not provided [RCV003122563] Chr9:94058283..94538120 [GRCh37]
Chr9:9q22.31		 uncertain significance|no classifications from unflagged records
NM_004560.4(ROR2):c.729C>G (p.Ser243=) single nucleotide variant not provided [RCV003106564] Chr9:91733330 [GRCh38]
Chr9:94495612 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2204G>A (p.Arg735Gln) single nucleotide variant not provided [RCV003104381]|not specified [RCV004690386] Chr9:91724290 [GRCh38]
Chr9:94486572 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2320A>C (p.Ser774Arg) single nucleotide variant Inborn genetic diseases [RCV003292684]|not provided [RCV003561279] Chr9:91724174 [GRCh38]
Chr9:94486456 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.463+193G>A single nucleotide variant not provided [RCV001638641] Chr9:91757079 [GRCh38]
Chr9:94519361 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.495-165C>T single nucleotide variant not provided [RCV001619236] Chr9:91737683 [GRCh38]
Chr9:94499965 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.623-286dup duplication not provided [RCV001562899] Chr9:91733718..91733719 [GRCh38]
Chr9:94496000..94496001 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.98-204G>A single nucleotide variant not provided [RCV001589978] Chr9:91776022 [GRCh38]
Chr9:94538304 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.622+154G>T single nucleotide variant not provided [RCV001618889] Chr9:91737237 [GRCh38]
Chr9:94499519 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.47C>G (p.Pro16Arg) single nucleotide variant Inborn genetic diseases [RCV003252364] Chr9:91949917 [GRCh38]
Chr9:94712199 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2109G>T (p.Glu703Asp) single nucleotide variant not provided [RCV000905098] Chr9:91724385 [GRCh38]
Chr9:94486667 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1524G>A (p.Thr508=) single nucleotide variant Brachydactyly type B1 [RCV002495413]|ROR2-related disorder [RCV004541844]|not provided [RCV000894607] Chr9:91724970 [GRCh38]
Chr9:94487252 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1179G>T (p.Ser393=) single nucleotide variant not provided [RCV000982956] Chr9:91730914 [GRCh38]
Chr9:94493196 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.525G>A (p.Gln175=) single nucleotide variant Brachydactyly type B1 [RCV002489257]|not provided [RCV000939020] Chr9:91737488 [GRCh38]
Chr9:94499770 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2782G>A (p.Asp928Asn) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166155]|Brachydactyly type B1 [RCV001166154] Chr9:91723712 [GRCh38]
Chr9:94485994 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.777G>T (p.Leu259=) single nucleotide variant not provided [RCV000911996] Chr9:91733282 [GRCh38]
Chr9:94495564 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1863G>A (p.Val621=) single nucleotide variant Brachydactyly type B1 [RCV002479016]|ROR2-related disorder [RCV004541826]|not provided [RCV000891175] Chr9:91724631 [GRCh38]
Chr9:94486913 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2620G>A (p.Val874Ile) single nucleotide variant not provided [RCV000891267] Chr9:91723874 [GRCh38]
Chr9:94486156 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1572G>A (p.Glu524=) single nucleotide variant Brachydactyly type B1 [RCV002505343]|not provided [RCV000912538] Chr9:91724922 [GRCh38]
Chr9:94487204 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2444C>T (p.Pro815Leu) single nucleotide variant not provided [RCV000889980]|not specified [RCV001818658] Chr9:91724050 [GRCh38]
Chr9:94486332 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.792C>T (p.Cys264=) single nucleotide variant not provided [RCV000912198] Chr9:91733267 [GRCh38]
Chr9:94495549 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1387-109dup duplication not provided [RCV001572063] Chr9:91725210..91725211 [GRCh38]
Chr9:94487492..94487493 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.97+93C>T single nucleotide variant not provided [RCV001682075] Chr9:91949774 [GRCh38]
Chr9:94712056 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.937+119C>T single nucleotide variant not provided [RCV001597578] Chr9:91733003 [GRCh38]
Chr9:94495285 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.98-100G>A single nucleotide variant not provided [RCV001619039] Chr9:91775918 [GRCh38]
Chr9:94538200 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1184-187G>A single nucleotide variant not provided [RCV001687638] Chr9:91726930 [GRCh38]
Chr9:94489212 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.623-297del deletion not provided [RCV001661009] Chr9:91733733 [GRCh38]
Chr9:94496015 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.98-67A>G single nucleotide variant not provided [RCV001641254] Chr9:91775885 [GRCh38]
Chr9:94538167 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1183+123C>G single nucleotide variant not provided [RCV001594147] Chr9:91730787 [GRCh38]
Chr9:94493069 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.495-164A>G single nucleotide variant not provided [RCV001598198] Chr9:91737682 [GRCh38]
Chr9:94499964 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1386+255C>T single nucleotide variant not provided [RCV001571846] Chr9:91726286 [GRCh38]
Chr9:94488568 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.97+200C>A single nucleotide variant not provided [RCV001686295] Chr9:91949667 [GRCh38]
Chr9:94711949 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.463+206G>C single nucleotide variant not provided [RCV001656899] Chr9:91757066 [GRCh38]
Chr9:94519348 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.622+55C>T single nucleotide variant not provided [RCV001638273] Chr9:91737336 [GRCh38]
Chr9:94499618 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.623-122C>T single nucleotide variant not provided [RCV001657049] Chr9:91733558 [GRCh38]
Chr9:94495840 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1386+233T>C single nucleotide variant not provided [RCV001636110] Chr9:91726308 [GRCh38]
Chr9:94488590 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1183+53T>C single nucleotide variant not provided [RCV001586460] Chr9:91730857 [GRCh38]
Chr9:94493139 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1386+40A>G single nucleotide variant not provided [RCV001588524] Chr9:91726501 [GRCh38]
Chr9:94488783 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.97+218A>G single nucleotide variant not provided [RCV001666193] Chr9:91949649 [GRCh38]
Chr9:94711931 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.464-221A>G single nucleotide variant not provided [RCV001565923] Chr9:91756322 [GRCh38]
Chr9:94518604 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.176-319C>T single nucleotide variant not provided [RCV001614654] Chr9:91757878 [GRCh38]
Chr9:94520160 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.731G>A (p.Arg244Gln) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166380]|Brachydactyly type B1 [RCV001166381] Chr9:91733328 [GRCh38]
Chr9:94495610 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1103C>G (p.Pro368Arg) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166840]|Brachydactyly type B1 [RCV001166839] Chr9:91730990 [GRCh38]
Chr9:94493272 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.-90A>G single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166973]|Brachydactyly type B1 [RCV001168685] Chr9:91950053 [GRCh38]
Chr9:94712335 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2382G>A (p.Pro794=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001168383]|Brachydactyly type B1 [RCV001168384]|not provided [RCV001399464] Chr9:91724112 [GRCh38]
Chr9:94486394 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance
GRCh37/hg19 9q22.31(chr9:94671200-95325631)x3 copy number gain See cases [RCV001007416] Chr9:94671200..95325631 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.*571G>C single nucleotide variant Autosomal recessive Robinow syndrome [RCV001168994]|Brachydactyly type B1 [RCV001168995] Chr9:91723091 [GRCh38]
Chr9:94485373 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.*553G>A single nucleotide variant Autosomal recessive Robinow syndrome [RCV001168997]|Brachydactyly type B1 [RCV001168996] Chr9:91723109 [GRCh38]
Chr9:94485391 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.*106C>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV001169055]|Brachydactyly type B1 [RCV001169056] Chr9:91723556 [GRCh38]
Chr9:94485838 [GRCh37]
Chr9:9q22.31		 benign|uncertain significance
NM_004560.4(ROR2):c.2550G>C (p.Gln850His) single nucleotide variant Inborn genetic diseases [RCV004031346]|not provided [RCV001044130] Chr9:91723944 [GRCh38]
Chr9:94486226 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1317G>A (p.Pro439=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001169238]|Brachydactyly type B1 [RCV001169239]|not provided [RCV002068036] Chr9:91726610 [GRCh38]
Chr9:94488892 [GRCh37]
Chr9:9q22.31		 benign|uncertain significance
NM_004560.4(ROR2):c.1347C>G (p.Ser449Arg) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001169237]|Brachydactyly type B1 [RCV001169236] Chr9:91726580 [GRCh38]
Chr9:94488862 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.886G>A (p.Asp296Asn) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001169312]|Brachydactyly type B1 [RCV001169311]|not provided [RCV002558681] Chr9:91733173 [GRCh38]
Chr9:94495455 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1279A>G (p.Met427Val) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166325]|Brachydactyly type B1 [RCV001166324]|not provided [RCV001859078] Chr9:91726648 [GRCh38]
Chr9:94488930 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.*107G>C single nucleotide variant Autosomal recessive Robinow syndrome [RCV001168323]|Brachydactyly type B1 [RCV001168322] Chr9:91723555 [GRCh38]
Chr9:94485837 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.*38G>A single nucleotide variant Autosomal recessive Robinow syndrome [RCV001169060]|Brachydactyly type B1 [RCV001169059] Chr9:91723624 [GRCh38]
Chr9:94485906 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.760G>A (p.Asp254Asn) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001169314]|Brachydactyly type B1 [RCV001169313]|not provided [RCV002067833] Chr9:91733299 [GRCh38]
Chr9:94495581 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance
NM_004560.4(ROR2):c.2034C>T (p.Tyr678=) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166715]|Brachydactyly type B1 [RCV001166714]|not provided [RCV001436466] Chr9:91724460 [GRCh38]
Chr9:94486742 [GRCh37]
Chr9:9q22.31		 benign|likely benign|uncertain significance
NM_004560.4(ROR2):c.-66G>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV001166971]|Brachydactyly type B1 [RCV001166972] Chr9:91950029 [GRCh38]
Chr9:94712311 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.*433C>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV001254020]|Brachydactyly type B1 [RCV001254021] Chr9:91723229 [GRCh38]
Chr9:94485511 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.553T>C (p.Phe185Leu) single nucleotide variant Short stature [RCV001310266] Chr9:91737460 [GRCh38]
Chr9:94499742 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2014G>A (p.Asp672Asn) single nucleotide variant Brachydactyly type B1 [RCV002476437]|Short stature [RCV001310270]|not provided [RCV003558804] Chr9:91724480 [GRCh38]
Chr9:94486762 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.494+24C>T single nucleotide variant not provided [RCV001538830] Chr9:91756047 [GRCh38]
Chr9:94518329 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.990del (p.Thr331fs) deletion Autosomal recessive Robinow syndrome [RCV001265650] Chr9:91731103 [GRCh38]
Chr9:94493385 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.361C>T (p.Arg121Ter) single nucleotide variant Brachydactyly type B1 [RCV001335148] Chr9:91757374 [GRCh38]
Chr9:94519656 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.302C>T (p.Pro101Leu) single nucleotide variant Brachydactyly type B1 [RCV002476436]|Short stature [RCV001310267]|not provided [RCV002545032] Chr9:91757433 [GRCh38]
Chr9:94519715 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.769G>A (p.Glu257Lys) single nucleotide variant Brachydactyly type B1 [RCV002504472]|Short stature [RCV001310268]|not provided [RCV002543545] Chr9:91733290 [GRCh38]
Chr9:94495572 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2625dup (p.Thr876fs) duplication Brachydactyly type B1 [RCV001293680]|Short stature [RCV001310271] Chr9:91723868..91723869 [GRCh38]
Chr9:94486150..94486151 [GRCh37]
Chr9:9q22.31		 likely pathogenic|uncertain significance
GRCh37/hg19 9q22.31(chr9:94499721-94518293)x1 copy number loss Autosomal recessive Robinow syndrome [RCV001353128] Chr9:94499721..94518293 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.623-11G>A single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353129]|not provided [RCV001732097] Chr9:91733447 [GRCh38]
Chr9:94495729 [GRCh37]
Chr9:9q22.31		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353138] Chr9:91724420 [GRCh38]
Chr9:94486702 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353123] Chr9:91730993 [GRCh38]
Chr9:94493275 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353136] Chr9:91724639 [GRCh38]
Chr9:94486921 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.863C>T (p.Ala288Val) single nucleotide variant Inborn genetic diseases [RCV004034525]|not provided [RCV001359305] Chr9:91733196 [GRCh38]
Chr9:94495478 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353140] Chr9:91724279 [GRCh38]
Chr9:94486561 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.381G>A (p.Thr127=) single nucleotide variant not provided [RCV001395634] Chr9:91757354 [GRCh38]
Chr9:94519636 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2117G>A (p.Arg706Gln) single nucleotide variant Short stature [RCV001310264]|not provided [RCV002543544] Chr9:91724377 [GRCh38]
Chr9:94486659 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.1746G>A (p.Thr582=) single nucleotide variant Brachydactyly type B1 [RCV002493595]|not provided [RCV001304048] Chr9:91724748 [GRCh38]
Chr9:94487030 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.256G>T (p.Ala86Ser) single nucleotide variant not provided [RCV001319906] Chr9:91757479 [GRCh38]
Chr9:94519761 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1285C>T (p.Arg429Trp) single nucleotide variant not provided [RCV001346625] Chr9:91726642 [GRCh38]
Chr9:94488924 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.329T>C (p.Ile110Thr) single nucleotide variant not provided [RCV001323131] Chr9:91757406 [GRCh38]
Chr9:94519688 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.494+4_494+7del microsatellite Autosomal recessive Robinow syndrome [RCV001353122] Chr9:91756064..91756067 [GRCh38]
Chr9:94518346..94518349 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353134]|Brachydactyly type B1 [RCV002499451] Chr9:91730997 [GRCh38]
Chr9:94493279 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.725G>A (p.Arg242His) single nucleotide variant ROR2-related disorder [RCV004528460]|not provided [RCV001316772] Chr9:91733334 [GRCh38]
Chr9:94495616 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.25C>G (p.Arg9Gly) single nucleotide variant not provided [RCV001324269] Chr9:91949939 [GRCh38]
Chr9:94712221 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.533G>A (p.Arg178Gln) single nucleotide variant Brachydactyly type B1 [RCV002488102]|Inborn genetic diseases [RCV002547782]|not provided [RCV001361774] Chr9:91737480 [GRCh38]
Chr9:94499762 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2206C>T (p.Arg736Trp) single nucleotide variant Brachydactyly type B1 [RCV002486145]|Inborn genetic diseases [RCV002541867]|not provided [RCV001298507] Chr9:91724288 [GRCh38]
Chr9:94486570 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.703G>A (p.Val235Met) single nucleotide variant not provided [RCV001296562] Chr9:91733356 [GRCh38]
Chr9:94495638 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q22.31(chr9:94381136-94851388)x1 copy number loss Autosomal recessive Robinow syndrome [RCV001353125] Chr9:94381136..94851388 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353127] Chr9:91757487 [GRCh38]
Chr9:94519769 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.675del (p.Gln225fs) deletion Autosomal recessive Robinow syndrome [RCV001353130] Chr9:91733384 [GRCh38]
Chr9:94495666 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.717C>A (p.Cys239Ter) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353131] Chr9:91733342 [GRCh38]
Chr9:94495624 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.2354G>A (p.Arg785His) single nucleotide variant Brachydactyly type B1 [RCV002488145]|Inborn genetic diseases [RCV002550077]|not provided [RCV001368629] Chr9:91724140 [GRCh38]
Chr9:94486422 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353124]|Brachydactyly type B1 [RCV003314001]|not provided [RCV003433099] Chr9:91726738 [GRCh38]
Chr9:94489020 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353139] Chr9:91724287 [GRCh38]
Chr9:94486569 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.1630A>G (p.Thr544Ala) single nucleotide variant Brachydactyly type B1 [RCV002488175]|Inborn genetic diseases [RCV002550138]|not provided [RCV001371838] Chr9:91724864 [GRCh38]
Chr9:94487146 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2T>G (p.Met1Arg) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353121] Chr9:91949962 [GRCh38]
Chr9:94712244 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.79_80del (p.Ser29fs) microsatellite Autosomal recessive Robinow syndrome [RCV001353126] Chr9:91949884..91949885 [GRCh38]
Chr9:94712166..94712167 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.899G>T (p.Cys300Phe) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353132] Chr9:91733160 [GRCh38]
Chr9:94495442 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001353135] Chr9:91724978 [GRCh38]
Chr9:94487260 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.1873G>A (p.Asp625Asn) single nucleotide variant Brachydactyly type B1 [RCV002476668]|not provided [RCV001365551] Chr9:91724621 [GRCh38]
Chr9:94486903 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2820G>C (p.Gln940His) single nucleotide variant not provided [RCV001313703] Chr9:91723674 [GRCh38]
Chr9:94485956 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1605C>T (p.Asn535=) single nucleotide variant Brachydactyly type B1 [RCV002506538]|not provided [RCV001464294] Chr9:91724889 [GRCh38]
Chr9:94487171 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2698G>A (p.Ala900Thr) single nucleotide variant not provided [RCV001488912] Chr9:91723796 [GRCh38]
Chr9:94486078 [GRCh37]
Chr9:9q22.31		 likely benign|conflicting interpretations of pathogenicity
NC_000009.11:g.(?_94485944)_(94538110_?)del deletion not provided [RCV001383839] Chr9:94485944..94538110 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.921C>T (p.Ala307=) single nucleotide variant not provided [RCV001432600] Chr9:91733138 [GRCh38]
Chr9:94495420 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1137G>A (p.Thr379=) single nucleotide variant ROR2-related disorder [RCV004531240]|not provided [RCV001407598] Chr9:91730956 [GRCh38]
Chr9:94493238 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.97+7T>C single nucleotide variant Brachydactyly type B1 [RCV002501512]|not provided [RCV001427417] Chr9:91949860 [GRCh38]
Chr9:94712142 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.176-115G>A single nucleotide variant not provided [RCV001653180] Chr9:91757674 [GRCh38]
Chr9:94519956 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1104C>T (p.Pro368=) single nucleotide variant Brachydactyly type B1 [RCV002476789]|not provided [RCV001479257] Chr9:91730989 [GRCh38]
Chr9:94493271 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.464-142C>T single nucleotide variant not provided [RCV001586360] Chr9:91756243 [GRCh38]
Chr9:94518525 [GRCh37]
Chr9:9q22.31		 likely benign
NC_000009.12:g.91950467A>C single nucleotide variant not provided [RCV001536881] Chr9:91950467 [GRCh38]
Chr9:94712749 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.2460C>T (p.Pro820=) single nucleotide variant not provided [RCV001477072] Chr9:91724034 [GRCh38]
Chr9:94486316 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1387-70G>A single nucleotide variant not provided [RCV001685888] Chr9:91725177 [GRCh38]
Chr9:94487459 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.950A>G (p.Tyr317Cys) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001391176] Chr9:91731143 [GRCh38]
Chr9:94493425 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.175+1G>A single nucleotide variant Brachydactyly type B1 [RCV002499774]|not provided [RCV001377292] Chr9:91775740 [GRCh38]
Chr9:94538022 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NC_000009.12:g.91950449A>T single nucleotide variant not provided [RCV001527827] Chr9:91950449 [GRCh38]
Chr9:94712731 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1170C>T (p.Asp390=) single nucleotide variant not provided [RCV003109152] Chr9:91730923 [GRCh38]
Chr9:94493205 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2166T>C (p.Tyr722=) single nucleotide variant not provided [RCV003108730] Chr9:91724328 [GRCh38]
Chr9:94486610 [GRCh37]
Chr9:9q22.31		 likely benign
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_004560.4(ROR2):c.929T>G (p.Leu310Arg) single nucleotide variant not provided [RCV003238427] Chr9:91733130 [GRCh38]
Chr9:94495412 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2249G>A (p.Gly750Asp) single nucleotide variant not provided [RCV001773047] Chr9:91724245 [GRCh38]
Chr9:94486527 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.362G>A (p.Arg121Gln) single nucleotide variant Autosomal recessive Robinow syndrome [RCV001733618]|Inborn genetic diseases [RCV004656643] Chr9:91757373 [GRCh38]
Chr9:94519655 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.746G>A (p.Arg249His) single nucleotide variant not provided [RCV001751817] Chr9:91733313 [GRCh38]
Chr9:94495595 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1927G>A (p.Ala643Thr) single nucleotide variant not provided [RCV001765259] Chr9:91724567 [GRCh38]
Chr9:94486849 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.937+143dup duplication not provided [RCV001797303] Chr9:91732978..91732979 [GRCh38]
Chr9:94495260..94495261 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1687G>A (p.Glu563Lys) single nucleotide variant Brachydactyly type B1 [RCV002482357]|not provided [RCV001885328]|not specified [RCV001817582] Chr9:91724807 [GRCh38]
Chr9:94487089 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.463+10A>G single nucleotide variant not specified [RCV001822761] Chr9:91757262 [GRCh38]
Chr9:94519544 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2713G>C (p.Ala905Pro) single nucleotide variant not provided [RCV001907767] Chr9:91723781 [GRCh38]
Chr9:94486063 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.457C>T (p.Arg153Trp) single nucleotide variant Brachydactyly type B1 [RCV002492248]|Inborn genetic diseases [RCV003170382]|not provided [RCV002008480] Chr9:91757278 [GRCh38]
Chr9:94519560 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1240A>G (p.Ile414Val) single nucleotide variant Brachydactyly type B1 [RCV002497847]|not provided [RCV001987779] Chr9:91726687 [GRCh38]
Chr9:94488969 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1913G>A (p.Arg638Gln) single nucleotide variant Brachydactyly type B1 [RCV002478320]|not provided [RCV001915542] Chr9:91724581 [GRCh38]
Chr9:94486863 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2782G>C (p.Asp928His) single nucleotide variant Brachydactyly type B1 [RCV002486647]|Inborn genetic diseases [RCV002675459]|not provided [RCV002045458] Chr9:91723712 [GRCh38]
Chr9:94485994 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.626C>T (p.Ala209Val) single nucleotide variant not provided [RCV001929218] Chr9:91733433 [GRCh38]
Chr9:94495715 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.281G>A (p.Arg94Gln) single nucleotide variant Brachydactyly type B1 [RCV002486515]|not provided [RCV002025267] Chr9:91757454 [GRCh38]
Chr9:94519736 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1553G>A (p.Arg518Gln) single nucleotide variant Brachydactyly type B1 [RCV002484671]|not provided [RCV001987237] Chr9:91724941 [GRCh38]
Chr9:94487223 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1639_1677dup (p.Gln547_Gly559dup) duplication not provided [RCV002023433] Chr9:91724816..91724817 [GRCh38]
Chr9:94487098..94487099 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.922G>A (p.Glu308Lys) single nucleotide variant not provided [RCV001929827] Chr9:91733137 [GRCh38]
Chr9:94495419 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1321C>T (p.Arg441Trp) single nucleotide variant not provided [RCV002009009] Chr9:91726606 [GRCh38]
Chr9:94488888 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1399G>C (p.Glu467Gln) single nucleotide variant Brachydactyly type B1 [RCV002484658]|not provided [RCV001984700] Chr9:91725095 [GRCh38]
Chr9:94487377 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.317C>T (p.Pro106Leu) single nucleotide variant not provided [RCV001971189] Chr9:91757418 [GRCh38]
Chr9:94519700 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2267A>G (p.Asn756Ser) single nucleotide variant not provided [RCV002045573] Chr9:91724227 [GRCh38]
Chr9:94486509 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1502C>A (p.Thr501Asn) single nucleotide variant Brachydactyly type B1 [RCV002486702]|Inborn genetic diseases [RCV003161223]|not provided [RCV002045776] Chr9:91724992 [GRCh38]
Chr9:94487274 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.902T>A (p.Met301Lys) single nucleotide variant not provided [RCV002040186] Chr9:91733157 [GRCh38]
Chr9:94495439 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004560.4(ROR2):c.2467G>A (p.Gly823Ser) single nucleotide variant not provided [RCV001964300] Chr9:91724027 [GRCh38]
Chr9:94486309 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1604A>G (p.Asn535Ser) single nucleotide variant not provided [RCV001926448] Chr9:91724890 [GRCh38]
Chr9:94487172 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1606G>A (p.Val536Ile) single nucleotide variant not provided [RCV001967194] Chr9:91724888 [GRCh38]
Chr9:94487170 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
NM_004560.4(ROR2):c.2523G>C (p.Gln841His) single nucleotide variant not provided [RCV001908723] Chr9:91723971 [GRCh38]
Chr9:94486253 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q22.31(chr9:94527881-94545176) copy number loss not specified [RCV002052820] Chr9:94527881..94545176 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2521C>G (p.Gln841Glu) single nucleotide variant Brachydactyly type B1 [RCV002503446]|Inborn genetic diseases [RCV004040547]|not provided [RCV001907976] Chr9:91723973 [GRCh38]
Chr9:94486255 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2443_2517del (p.Pro815_Pro839del) deletion not provided [RCV001891249] Chr9:91723977..91724051 [GRCh38]
Chr9:94486259..94486333 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.175+3G>T single nucleotide variant Brachydactyly type B1 [RCV002482612]|Inborn genetic diseases [RCV002552239]|not provided [RCV001889950] Chr9:91775738 [GRCh38]
Chr9:94538020 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1639C>A (p.Gln547Lys) single nucleotide variant Brachydactyly type B1 [RCV002482648]|not provided [RCV001890505] Chr9:91724855 [GRCh38]
Chr9:94487137 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.95C>A (p.Ser32Ter) single nucleotide variant not provided [RCV001943968] Chr9:91949869 [GRCh38]
Chr9:94712151 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.334C>T (p.Arg112Trp) single nucleotide variant Brachydactyly type B1 [RCV002486634]|Inborn genetic diseases [RCV003170535]|not provided [RCV002019877] Chr9:91757401 [GRCh38]
Chr9:94519683 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2725G>A (p.Val909Met) single nucleotide variant Inborn genetic diseases [RCV004043644]|not provided [RCV001955687] Chr9:91723769 [GRCh38]
Chr9:94486051 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1582C>T (p.Arg528Ter) single nucleotide variant Autosomal recessive Robinow syndrome [RCV003444965]|not provided [RCV001942300] Chr9:91724912 [GRCh38]
Chr9:94487194 [GRCh37]
Chr9:9q22.31		 pathogenic|likely pathogenic
NM_004560.4(ROR2):c.280C>A (p.Arg94=) single nucleotide variant not provided [RCV002000866] Chr9:91757455 [GRCh38]
Chr9:94519737 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.1757C>T (p.Ala586Val) single nucleotide variant not provided [RCV001902047] Chr9:91724737 [GRCh38]
Chr9:94487019 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.660G>A (p.Ser220=) single nucleotide variant not provided [RCV001995616] Chr9:91733399 [GRCh38]
Chr9:94495681 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.2828C>A (p.Ala943Asp) single nucleotide variant not provided [RCV002018865] Chr9:91723666 [GRCh38]
Chr9:94485948 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2555CTC[1] (p.Pro853del) microsatellite not provided [RCV001878080] Chr9:91723934..91723936 [GRCh38]
Chr9:94486216..94486218 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1624G>A (p.Val542Met) single nucleotide variant Brachydactyly type B1 [RCV002484436]|not provided [RCV001918668] Chr9:91724870 [GRCh38]
Chr9:94487152 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.634A>G (p.Met212Val) single nucleotide variant not provided [RCV001907213] Chr9:91733425 [GRCh38]
Chr9:94495707 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1715C>T (p.Ser572Leu) single nucleotide variant not provided [RCV001932329] Chr9:91724779 [GRCh38]
Chr9:94487061 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2233C>T (p.Arg745Trp) single nucleotide variant not provided [RCV001876334] Chr9:91724261 [GRCh38]
Chr9:94486543 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.768C>T (p.Cys256=) single nucleotide variant Brachydactyly type B1 [RCV002484529]|not provided [RCV001951967] Chr9:91733291 [GRCh38]
Chr9:94495573 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.2378C>T (p.Ala793Val) single nucleotide variant not provided [RCV001935190] Chr9:91724116 [GRCh38]
Chr9:94486398 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.888C>T (p.Asp296=) single nucleotide variant Brachydactyly type B1 [RCV002498048]|ROR2-related disorder [RCV004543684]|not provided [RCV002026068] Chr9:91733171 [GRCh38]
Chr9:94495453 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.765G>C (p.Glu255Asp) single nucleotide variant not provided [RCV001899677] Chr9:91733294 [GRCh38]
Chr9:94495576 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1574C>G (p.Ala525Gly) single nucleotide variant not provided [RCV001866653] Chr9:91724920 [GRCh38]
Chr9:94487202 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.769_770delinsTT (p.Glu257Leu) indel not provided [RCV001919846] Chr9:91733289..91733290 [GRCh38]
Chr9:94495571..94495572 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1564C>T (p.Arg522Trp) single nucleotide variant not provided [RCV001935544] Chr9:91724930 [GRCh38]
Chr9:94487212 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1399_1400insT (p.Glu467fs) insertion not provided [RCV001956272] Chr9:91725094..91725095 [GRCh38]
Chr9:94487376..94487377 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1386+85dup duplication not provided [RCV002034843] Chr9:91726455..91726456 [GRCh38]
Chr9:94488737..94488738 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2415G>A (p.Lys805=) single nucleotide variant not provided [RCV001932347] Chr9:91724079 [GRCh38]
Chr9:94486361 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1732G>A (p.Asp578Asn) single nucleotide variant Brachydactyly type B1 [RCV002479568]|not provided [RCV001989877] Chr9:91724762 [GRCh38]
Chr9:94487044 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1799C>T (p.Ala600Val) single nucleotide variant Brachydactyly type B1 [RCV002492150]|not provided [RCV001997672] Chr9:91724695 [GRCh38]
Chr9:94486977 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2143G>A (p.Asp715Asn) single nucleotide variant Inborn genetic diseases [RCV002569321]|not provided [RCV001975644] Chr9:91724351 [GRCh38]
Chr9:94486633 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1997A>G (p.Tyr666Cys) single nucleotide variant Brachydactyly type B1 [RCV002479497]|Inborn genetic diseases [RCV004042883]|not provided [RCV001955060] Chr9:91724497 [GRCh38]
Chr9:94486779 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2359G>A (p.Val787Met) single nucleotide variant not provided [RCV001906093] Chr9:91724135 [GRCh38]
Chr9:94486417 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1255G>A (p.Ala419Thr) single nucleotide variant not provided [RCV001961360] Chr9:91726672 [GRCh38]
Chr9:94488954 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1601C>A (p.Pro534His) single nucleotide variant Brachydactyly type B1 [RCV002507004]|Inborn genetic diseases [RCV002555315]|not provided [RCV001898701] Chr9:91724893 [GRCh38]
Chr9:94487175 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2442G>A (p.Pro814=) single nucleotide variant Brachydactyly type B1 [RCV002497894]|not provided [RCV001951650] Chr9:91724052 [GRCh38]
Chr9:94486334 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.663C>G (p.Asp221Glu) single nucleotide variant not provided [RCV001897802] Chr9:91733396 [GRCh38]
Chr9:94495678 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.934C>T (p.Arg312Cys) single nucleotide variant not provided [RCV001870228] Chr9:91733125 [GRCh38]
Chr9:94495407 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2203C>T (p.Arg735Trp) single nucleotide variant not provided [RCV001961097] Chr9:91724291 [GRCh38]
Chr9:94486573 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2770G>C (p.Glu924Gln) single nucleotide variant not provided [RCV001925912] Chr9:91723724 [GRCh38]
Chr9:94486006 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1678G>A (p.Asp560Asn) single nucleotide variant not provided [RCV001959248] Chr9:91724816 [GRCh38]
Chr9:94487098 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1955C>T (p.Ser652Leu) single nucleotide variant not provided [RCV001976388] Chr9:91724539 [GRCh38]
Chr9:94486821 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1360A>G (p.Met454Val) single nucleotide variant not provided [RCV001975561] Chr9:91726567 [GRCh38]
Chr9:94488849 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1771G>A (p.Asp591Asn) single nucleotide variant Brachydactyly type B1 [RCV002506992]|not provided [RCV001917758] Chr9:91724723 [GRCh38]
Chr9:94487005 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.622G>A (p.Ala208Thr) single nucleotide variant not provided [RCV001904115] Chr9:91737391 [GRCh38]
Chr9:94499673 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2725G>C (p.Val909Leu) single nucleotide variant not provided [RCV001866523] Chr9:91723769 [GRCh38]
Chr9:94486051 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.496G>T (p.Asp166Tyr) single nucleotide variant not provided [RCV002013675] Chr9:91737517 [GRCh38]
Chr9:94499799 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.879G>C (p.Glu293Asp) single nucleotide variant not provided [RCV001917221] Chr9:91733180 [GRCh38]
Chr9:94495462 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.937+11G>A single nucleotide variant not provided [RCV002149377] Chr9:91733111 [GRCh38]
Chr9:94495393 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.720C>T (p.Asp240=) single nucleotide variant not provided [RCV002075832] Chr9:91733339 [GRCh38]
Chr9:94495621 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.954C>T (p.Asn318=) single nucleotide variant Brachydactyly type B1 [RCV002494063]|not provided [RCV002187143] Chr9:91731139 [GRCh38]
Chr9:94493421 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2022C>T (p.Asp674=) single nucleotide variant not provided [RCV002148428] Chr9:91724472 [GRCh38]
Chr9:94486754 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.485A>G (p.His162Arg) single nucleotide variant Brachydactyly type B1 [RCV002479908]|not provided [RCV002107987] Chr9:91756080 [GRCh38]
Chr9:94518362 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.1317G>T (p.Pro439=) single nucleotide variant not provided [RCV002168225] Chr9:91726610 [GRCh38]
Chr9:94488892 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2478G>A (p.Pro826=) single nucleotide variant Brachydactyly type B1 [RCV002500251]|not provided [RCV002128571] Chr9:91724016 [GRCh38]
Chr9:94486298 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2030C>T (p.Ser677Phe) single nucleotide variant not provided [RCV002224746] Chr9:91724464 [GRCh38]
Chr9:94486746 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1480G>A (p.Gly494Ser) single nucleotide variant not provided [RCV002089373] Chr9:91725014 [GRCh38]
Chr9:94487296 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2094C>T (p.Asn698=) single nucleotide variant not provided [RCV002188773] Chr9:91724400 [GRCh38]
Chr9:94486682 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1510G>A (p.Val504Met) single nucleotide variant Brachydactyly type B1 [RCV002225162] Chr9:91724984 [GRCh38]
Chr9:94487266 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1549C>T (p.Leu517=) single nucleotide variant not provided [RCV002108643] Chr9:91724945 [GRCh38]
Chr9:94487227 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.937+19G>A single nucleotide variant not provided [RCV002106168] Chr9:91733103 [GRCh38]
Chr9:94495385 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.501T>C (p.Asp167=) single nucleotide variant not provided [RCV002196590] Chr9:91737512 [GRCh38]
Chr9:94499794 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2694G>C (p.Gln898His) single nucleotide variant Inborn genetic diseases [RCV003250461]|ROR2-related disorder [RCV004531426]|not provided [RCV002153028] Chr9:91723800 [GRCh38]
Chr9:94486082 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.494+17C>T single nucleotide variant Brachydactyly type B1 [RCV002494127]|not provided [RCV002215525] Chr9:91756054 [GRCh38]
Chr9:94518336 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.532C>T (p.Arg178Trp) single nucleotide variant not provided [RCV002113669] Chr9:91737481 [GRCh38]
Chr9:94499763 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.123C>T (p.Asn41=) single nucleotide variant not provided [RCV002114112] Chr9:91775793 [GRCh38]
Chr9:94538075 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1800G>A (p.Ala600=) single nucleotide variant not provided [RCV002174079] Chr9:91724694 [GRCh38]
Chr9:94486976 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1548C>T (p.Pro516=) single nucleotide variant not provided [RCV002075971] Chr9:91724946 [GRCh38]
Chr9:94487228 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.175+17A>G single nucleotide variant Brachydactyly type B1 [RCV002498205]|not provided [RCV002211519] Chr9:91775724 [GRCh38]
Chr9:94538006 [GRCh37]
Chr9:9q22.31		 benign|likely benign
NM_004560.4(ROR2):c.2388C>T (p.Phe796=) single nucleotide variant not provided [RCV002130935] Chr9:91724106 [GRCh38]
Chr9:94486388 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1087G>A (p.Ala363Thr) single nucleotide variant Inborn genetic diseases [RCV004045782]|not provided [RCV002097722] Chr9:91731006 [GRCh38]
Chr9:94493288 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.654C>T (p.His218=) single nucleotide variant not provided [RCV002093082] Chr9:91733405 [GRCh38]
Chr9:94495687 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1942C>T (p.Leu648=) single nucleotide variant not provided [RCV002084655] Chr9:91724552 [GRCh38]
Chr9:94486834 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.97+12C>T single nucleotide variant not provided [RCV002144789] Chr9:91949855 [GRCh38]
Chr9:94712137 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2604C>T (p.Ser868=) single nucleotide variant Brachydactyly type B1 [RCV002499987]|not provided [RCV002126714] Chr9:91723890 [GRCh38]
Chr9:94486172 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.258A>G (p.Ala86=) single nucleotide variant not provided [RCV002079225] Chr9:91757477 [GRCh38]
Chr9:94519759 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1872C>T (p.Tyr624=) single nucleotide variant not provided [RCV002178571] Chr9:91724622 [GRCh38]
Chr9:94486904 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.489C>T (p.Asn163=) single nucleotide variant not provided [RCV002121290] Chr9:91756076 [GRCh38]
Chr9:94518358 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2358C>T (p.Tyr786=) single nucleotide variant not provided [RCV002121641] Chr9:91724136 [GRCh38]
Chr9:94486418 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1323G>A (p.Arg441=) single nucleotide variant ROR2-related disorder [RCV004531515]|not provided [RCV002154471] Chr9:91726604 [GRCh38]
Chr9:94488886 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1998C>T (p.Tyr666=) single nucleotide variant Brachydactyly type B1 [RCV002500272]|not provided [RCV002139899] Chr9:91724496 [GRCh38]
Chr9:94486778 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.159G>A (p.Pro53=) single nucleotide variant not provided [RCV002142610] Chr9:91775757 [GRCh38]
Chr9:94538039 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2346C>T (p.Ser782=) single nucleotide variant not provided [RCV002141509] Chr9:91724148 [GRCh38]
Chr9:94486430 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.538A>G (p.Ile180Val) single nucleotide variant not provided [RCV002175458] Chr9:91737475 [GRCh38]
Chr9:94499757 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.2724C>T (p.Thr908=) single nucleotide variant Brachydactyly type B1 [RCV002494038]|not provided [RCV002179412] Chr9:91723770 [GRCh38]
Chr9:94486052 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1703G>A (p.Arg568His) single nucleotide variant not provided [RCV002120040] Chr9:91724791 [GRCh38]
Chr9:94487073 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.937+16C>T single nucleotide variant Brachydactyly type B1 [RCV002486901]|not provided [RCV002118118] Chr9:91733106 [GRCh38]
Chr9:94495388 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.1992C>T (p.Ile664=) single nucleotide variant not provided [RCV002201507] Chr9:91724502 [GRCh38]
Chr9:94486784 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.463+11C>A single nucleotide variant not provided [RCV002137064] Chr9:91757261 [GRCh38]
Chr9:94519543 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2645C>G (p.Ser882Cys) single nucleotide variant ROR2-related disorder [RCV004529240]|not provided [RCV003114153] Chr9:91723849 [GRCh38]
Chr9:94486131 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1524G>T (p.Thr508=) single nucleotide variant not provided [RCV003116934] Chr9:91724970 [GRCh38]
Chr9:94487252 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1386+16A>G single nucleotide variant not provided [RCV003114741] Chr9:91726525 [GRCh38]
Chr9:94488807 [GRCh37]
Chr9:9q22.31		 likely benign
NC_000009.11:g.(?_94485944)_(95527026_?)del deletion not provided [RCV003113522] Chr9:94485944..95527026 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.750G>A (p.Glu250=) single nucleotide variant not provided [RCV003117003] Chr9:91733309 [GRCh38]
Chr9:94495591 [GRCh37]
Chr9:9q22.31		 likely benign
NC_000009.11:g.(?_94712129)_(94712245_?)dup duplication not provided [RCV003113523] Chr9:94712129..94712245 [GRCh37]
Chr9:9q22.31		 uncertain significance
NC_000009.11:g.(?_94485944)_(94538120_?)del deletion not provided [RCV003113524] Chr9:94485944..94538120 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.794G>A (p.Arg265His) single nucleotide variant not provided [RCV003115424] Chr9:91733265 [GRCh38]
Chr9:94495547 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2353C>T (p.Arg785Cys) single nucleotide variant not provided [RCV003121328] Chr9:91724141 [GRCh38]
Chr9:94486423 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2199C>A (p.Pro733=) single nucleotide variant not provided [RCV003119002] Chr9:91724295 [GRCh38]
Chr9:94486577 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1184-1G>T single nucleotide variant Autosomal recessive Robinow syndrome [RCV002226817] Chr9:91726744 [GRCh38]
Chr9:94489026 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.2014G>T (p.Asp672Tyr) single nucleotide variant Autosomal recessive Robinow syndrome [RCV002244142]|not provided [RCV003120847] Chr9:91724480 [GRCh38]
Chr9:94486762 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.536G>T (p.Gly179Val) single nucleotide variant not provided [RCV002274663] Chr9:91737477 [GRCh38]
Chr9:94499759 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_004560.4(ROR2):c.1801G>A (p.Ala601Thr) single nucleotide variant Inborn genetic diseases [RCV003164422]|not specified [RCV002281819] Chr9:91724693 [GRCh38]
Chr9:94486975 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1 copy number loss Gorlin syndrome [RCV002279743] Chr9:93864974..106661581 [GRCh37]
Chr9:9q22.2-31.1		 pathogenic
NM_004560.4(ROR2):c.1331T>G (p.Leu444Arg) single nucleotide variant not provided [RCV003130417] Chr9:91726596 [GRCh38]
Chr9:94488878 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2107G>A (p.Glu703Lys) single nucleotide variant not provided [RCV002301878] Chr9:91724387 [GRCh38]
Chr9:94486669 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2070G>A (p.Leu690=) single nucleotide variant not provided [RCV002775757] Chr9:91724424 [GRCh38]
Chr9:94486706 [GRCh37]
Chr9:9q22.31		 likely benign
GRCh37/hg19 9q22.31(chr9:94666958-95339157)x3 copy number gain not provided [RCV002475857] Chr9:94666958..95339157 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1355T>C (p.Met452Thr) single nucleotide variant not provided [RCV002967864] Chr9:91726572 [GRCh38]
Chr9:94488854 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1576A>G (p.Met526Val) single nucleotide variant not provided [RCV003032733] Chr9:91724918 [GRCh38]
Chr9:94487200 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.233C>A (p.Thr78Lys) single nucleotide variant Inborn genetic diseases [RCV002858979] Chr9:91757502 [GRCh38]
Chr9:94519784 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2193G>A (p.Glu731=) single nucleotide variant not provided [RCV002616623] Chr9:91724301 [GRCh38]
Chr9:94486583 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1677C>G (p.Gly559=) single nucleotide variant not provided [RCV002613463] Chr9:91724817 [GRCh38]
Chr9:94487099 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1092C>T (p.Tyr364=) single nucleotide variant not provided [RCV002751172] Chr9:91731001 [GRCh38]
Chr9:94493283 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.722C>T (p.Ala241Val) single nucleotide variant not provided [RCV002948068] Chr9:91733337 [GRCh38]
Chr9:94495619 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1811A>G (p.Glu604Gly) single nucleotide variant not provided [RCV003035073] Chr9:91724683 [GRCh38]
Chr9:94486965 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2484G>A (p.Pro828=) single nucleotide variant not provided [RCV002994348] Chr9:91724010 [GRCh38]
Chr9:94486292 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1016C>T (p.Pro339Leu) single nucleotide variant not provided [RCV002795062] Chr9:91731077 [GRCh38]
Chr9:94493359 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1165T>C (p.Cys389Arg) single nucleotide variant not provided [RCV002681605] Chr9:91730928 [GRCh38]
Chr9:94493210 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.176-14G>A single nucleotide variant not provided [RCV002775751] Chr9:91757573 [GRCh38]
Chr9:94519855 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1340C>T (p.Ser447Leu) single nucleotide variant not provided [RCV002775531] Chr9:91726587 [GRCh38]
Chr9:94488869 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.154G>A (p.Gly52Ser) single nucleotide variant Inborn genetic diseases [RCV004070301]|not provided [RCV003076738] Chr9:91775762 [GRCh38]
Chr9:94538044 [GRCh37]
Chr9:9q22.31		 likely benign|uncertain significance
NM_004560.4(ROR2):c.934C>A (p.Arg312Ser) single nucleotide variant Inborn genetic diseases [RCV002593115]|not provided [RCV002593114] Chr9:91733125 [GRCh38]
Chr9:94495407 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1851C>T (p.Ala617=) single nucleotide variant not provided [RCV002914080] Chr9:91724643 [GRCh38]
Chr9:94486925 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1272G>A (p.Leu424=) single nucleotide variant not provided [RCV002914515] Chr9:91726655 [GRCh38]
Chr9:94488937 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2485G>A (p.Ala829Thr) single nucleotide variant not provided [RCV002623059] Chr9:91724009 [GRCh38]
Chr9:94486291 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.444C>T (p.Gly148=) single nucleotide variant not provided [RCV002593403] Chr9:91757291 [GRCh38]
Chr9:94519573 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1067del (p.Pro356fs) deletion not provided [RCV002848118] Chr9:91731026 [GRCh38]
Chr9:94493308 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1183+20T>G single nucleotide variant not provided [RCV002785780] Chr9:91730890 [GRCh38]
Chr9:94493172 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.137C>A (p.Pro46His) single nucleotide variant not provided [RCV002690669] Chr9:91775779 [GRCh38]
Chr9:94538061 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.405C>T (p.Cys135=) single nucleotide variant not provided [RCV002571741] Chr9:91757330 [GRCh38]
Chr9:94519612 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2217C>T (p.Phe739=) single nucleotide variant not provided [RCV002705412] Chr9:91724277 [GRCh38]
Chr9:94486559 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.310C>T (p.Gln104Ter) single nucleotide variant not provided [RCV002659166] Chr9:91757425 [GRCh38]
Chr9:94519707 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1711C>T (p.His571Tyr) single nucleotide variant Inborn genetic diseases [RCV003001434] Chr9:91724783 [GRCh38]
Chr9:94487065 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2062T>G (p.Tyr688Asp) single nucleotide variant not provided [RCV002690977] Chr9:91724432 [GRCh38]
Chr9:94486714 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1143T>C (p.Asn381=) single nucleotide variant not provided [RCV002867459] Chr9:91730950 [GRCh38]
Chr9:94493232 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.980C>T (p.Thr327Met) single nucleotide variant not provided [RCV002909982] Chr9:91731113 [GRCh38]
Chr9:94493395 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1375C>T (p.Gln459Ter) single nucleotide variant not provided [RCV002622597] Chr9:91726552 [GRCh38]
Chr9:94488834 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.2169C>T (p.Ala723=) single nucleotide variant not provided [RCV002820877] Chr9:91724325 [GRCh38]
Chr9:94486607 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1681C>T (p.Leu561Phe) single nucleotide variant Inborn genetic diseases [RCV002846101] Chr9:91724813 [GRCh38]
Chr9:94487095 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.175+17A>C single nucleotide variant not provided [RCV002618967] Chr9:91775724 [GRCh38]
Chr9:94538006 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2467G>C (p.Gly823Arg) single nucleotide variant Inborn genetic diseases [RCV002739841] Chr9:91724027 [GRCh38]
Chr9:94486309 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2446C>A (p.Gln816Lys) single nucleotide variant Inborn genetic diseases [RCV004064343]|not provided [RCV002569852] Chr9:91724048 [GRCh38]
Chr9:94486330 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2167G>C (p.Ala723Pro) single nucleotide variant Inborn genetic diseases [RCV002848603] Chr9:91724327 [GRCh38]
Chr9:94486609 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1499A>T (p.Gln500Leu) single nucleotide variant Inborn genetic diseases [RCV002869846] Chr9:91724995 [GRCh38]
Chr9:94487277 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1797C>T (p.Ile599=) single nucleotide variant not provided [RCV002705891] Chr9:91724697 [GRCh38]
Chr9:94486979 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2709T>C (p.Asp903=) single nucleotide variant not provided [RCV002659515] Chr9:91723785 [GRCh38]
Chr9:94486067 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1523C>T (p.Thr508Met) single nucleotide variant Inborn genetic diseases [RCV002987471] Chr9:91724971 [GRCh38]
Chr9:94487253 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1183+9T>C single nucleotide variant not provided [RCV003007926] Chr9:91730901 [GRCh38]
Chr9:94493183 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2064C>T (p.Tyr688=) single nucleotide variant not provided [RCV002958685] Chr9:91724430 [GRCh38]
Chr9:94486712 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.2304G>A (p.Thr768=) single nucleotide variant ROR2-related disorder [RCV004536473]|not provided [RCV002958156] Chr9:91724190 [GRCh38]
Chr9:94486472 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.938-18C>T single nucleotide variant not provided [RCV002594967] Chr9:91731173 [GRCh38]
Chr9:94493455 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1422G>T (p.Arg474Ser) single nucleotide variant not provided [RCV003022970] Chr9:91725072 [GRCh38]
Chr9:94487354 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2110A>G (p.Met704Val) single nucleotide variant Inborn genetic diseases [RCV002827004] Chr9:91724384 [GRCh38]
Chr9:94486666 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.853A>G (p.Lys285Glu) single nucleotide variant not provided [RCV002711672] Chr9:91733206 [GRCh38]
Chr9:94495488 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2058C>A (p.Phe686Leu) single nucleotide variant Inborn genetic diseases [RCV002664810] Chr9:91724436 [GRCh38]
Chr9:94486718 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1834G>C (p.Val612Leu) single nucleotide variant not provided [RCV002917808] Chr9:91724660 [GRCh38]
Chr9:94486942 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2428C>A (p.Pro810Thr) single nucleotide variant Inborn genetic diseases [RCV004064344]|not provided [RCV002572604] Chr9:91724066 [GRCh38]
Chr9:94486348 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.640G>C (p.Gly214Arg) single nucleotide variant Autosomal recessive Robinow syndrome [RCV002790050] Chr9:91733419 [GRCh38]
Chr9:94495701 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.1739A>T (p.Asp580Val) single nucleotide variant not provided [RCV002741080] Chr9:91724755 [GRCh38]
Chr9:94487037 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1325G>A (p.Arg442Gln) single nucleotide variant not provided [RCV003022766] Chr9:91726602 [GRCh38]
Chr9:94488884 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.938-17G>A single nucleotide variant not provided [RCV002596806] Chr9:91731172 [GRCh38]
Chr9:94493454 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1709C>T (p.Pro570Leu) single nucleotide variant Inborn genetic diseases [RCV002645004] Chr9:91724785 [GRCh38]
Chr9:94487067 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1742G>A (p.Arg581His) single nucleotide variant not provided [RCV003058224] Chr9:91724752 [GRCh38]
Chr9:94487034 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1856G>A (p.Arg619His) single nucleotide variant Autosomal recessive Robinow syndrome [RCV002790049]|Inborn genetic diseases [RCV003269526] Chr9:91724638 [GRCh38]
Chr9:94486920 [GRCh37]
Chr9:9q22.31		 likely pathogenic|uncertain significance
NM_004560.4(ROR2):c.835A>G (p.Met279Val) single nucleotide variant not provided [RCV003005656] Chr9:91733224 [GRCh38]
Chr9:94495506 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.394T>C (p.Tyr132His) single nucleotide variant not provided [RCV002663979] Chr9:91757341 [GRCh38]
Chr9:94519623 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.319C>T (p.Arg107Trp) single nucleotide variant Inborn genetic diseases [RCV002698698] Chr9:91757416 [GRCh38]
Chr9:94519698 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.937+18C>T single nucleotide variant not provided [RCV002574339] Chr9:91733104 [GRCh38]
Chr9:94495386 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.280C>T (p.Arg94Trp) single nucleotide variant not provided [RCV002626439] Chr9:91757455 [GRCh38]
Chr9:94519737 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1184-20G>A single nucleotide variant not provided [RCV002573962] Chr9:91726763 [GRCh38]
Chr9:94489045 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.824C>T (p.Pro275Leu) single nucleotide variant not provided [RCV002594549] Chr9:91733235 [GRCh38]
Chr9:94495517 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.426G>A (p.Lys142=) single nucleotide variant not provided [RCV003009741] Chr9:91757309 [GRCh38]
Chr9:94519591 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.743C>T (p.Pro248Leu) single nucleotide variant not provided [RCV002647115] Chr9:91733316 [GRCh38]
Chr9:94495598 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.176-10T>G single nucleotide variant not provided [RCV002601671] Chr9:91757569 [GRCh38]
Chr9:94519851 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.176-15C>T single nucleotide variant not provided [RCV002580465] Chr9:91757574 [GRCh38]
Chr9:94519856 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.727T>G (p.Ser243Ala) single nucleotide variant Inborn genetic diseases [RCV002831773] Chr9:91733332 [GRCh38]
Chr9:94495614 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.378C>A (p.Asp126Glu) single nucleotide variant not provided [RCV002676324] Chr9:91757357 [GRCh38]
Chr9:94519639 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2290del (p.Ala764fs) deletion not provided [RCV002832960] Chr9:91724204 [GRCh38]
Chr9:94486486 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2065G>A (p.Gly689Ser) single nucleotide variant Inborn genetic diseases [RCV002747340] Chr9:91724429 [GRCh38]
Chr9:94486711 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2374A>G (p.Lys792Glu) single nucleotide variant not provided [RCV003027783] Chr9:91724120 [GRCh38]
Chr9:94486402 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2633C>A (p.Pro878His) single nucleotide variant Inborn genetic diseases [RCV002807921]|not provided [RCV003777763] Chr9:91723861 [GRCh38]
Chr9:94486143 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.623C>T (p.Ala208Val) single nucleotide variant not provided [RCV003062219] Chr9:91733436 [GRCh38]
Chr9:94495718 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1179G>A (p.Ser393=) single nucleotide variant not provided [RCV002806256] Chr9:91730914 [GRCh38]
Chr9:94493196 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2278C>T (p.Gln760Ter) single nucleotide variant not provided [RCV003062218] Chr9:91724216 [GRCh38]
Chr9:94486498 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1183+14C>G single nucleotide variant not provided [RCV003047667] Chr9:91730896 [GRCh38]
Chr9:94493178 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1386+11C>A single nucleotide variant not provided [RCV002962900] Chr9:91726530 [GRCh38]
Chr9:94488812 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1745C>T (p.Thr582Met) single nucleotide variant Inborn genetic diseases [RCV004661510]|not provided [RCV002938861] Chr9:91724749 [GRCh38]
Chr9:94487031 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1117G>A (p.Glu373Lys) single nucleotide variant not provided [RCV002832841] Chr9:91730976 [GRCh38]
Chr9:94493258 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1140G>A (p.Gln380=) single nucleotide variant not provided [RCV002628123] Chr9:91730953 [GRCh38]
Chr9:94493235 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.140T>A (p.Leu47His) single nucleotide variant not provided [RCV003045915] Chr9:91775776 [GRCh38]
Chr9:94538058 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.335G>A (p.Arg112Gln) single nucleotide variant Inborn genetic diseases [RCV002939341] Chr9:91757400 [GRCh38]
Chr9:94519682 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2230A>T (p.Ser744Cys) single nucleotide variant not provided [RCV002942936] Chr9:91724264 [GRCh38]
Chr9:94486546 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.211A>G (p.Ile71Val) single nucleotide variant Inborn genetic diseases [RCV002724751] Chr9:91757524 [GRCh38]
Chr9:94519806 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1174C>T (p.Pro392Ser) single nucleotide variant not provided [RCV002583376] Chr9:91730919 [GRCh38]
Chr9:94493201 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.474C>T (p.His158=) single nucleotide variant not provided [RCV002582298] Chr9:91756091 [GRCh38]
Chr9:94518373 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1162C>T (p.Leu388=) single nucleotide variant not provided [RCV003092988] Chr9:91730931 [GRCh38]
Chr9:94493213 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1538C>T (p.Ala513Val) single nucleotide variant not provided [RCV002588744] Chr9:91724956 [GRCh38]
Chr9:94487238 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.231G>C (p.Gln77His) single nucleotide variant not provided [RCV002586959] Chr9:91757504 [GRCh38]
Chr9:94519786 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1086C>T (p.His362=) single nucleotide variant not provided [RCV002587030] Chr9:91731007 [GRCh38]
Chr9:94493289 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2794_2795del (p.Leu932fs) microsatellite not provided [RCV002610340] Chr9:91723699..91723700 [GRCh38]
Chr9:94485981..94485982 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.406G>A (p.Val136Met) single nucleotide variant not provided [RCV002612975] Chr9:91757329 [GRCh38]
Chr9:94519611 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1047C>T (p.His349=) single nucleotide variant not provided [RCV002588461] Chr9:91731046 [GRCh38]
Chr9:94493328 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2150G>C (p.Cys717Ser) single nucleotide variant not provided [RCV002583717] Chr9:91724344 [GRCh38]
Chr9:94486626 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.623-13G>A single nucleotide variant not provided [RCV002584307] Chr9:91733449 [GRCh38]
Chr9:94495731 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1807A>G (p.Met603Val) single nucleotide variant Inborn genetic diseases [RCV004064571]|not provided [RCV002584374] Chr9:91724687 [GRCh38]
Chr9:94486969 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1133T>C (p.Phe378Ser) single nucleotide variant Autosomal recessive Robinow syndrome [RCV003159550] Chr9:91730960 [GRCh38]
Chr9:94493242 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.673C>G (p.Gln225Glu) single nucleotide variant Inborn genetic diseases [RCV003281582] Chr9:91733386 [GRCh38]
Chr9:94495668 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.854A>G (p.Lys285Arg) single nucleotide variant Autosomal recessive Robinow syndrome [RCV003228722] Chr9:91733205 [GRCh38]
Chr9:94495487 [GRCh37]
Chr9:9q22.31		 likely pathogenic
NM_004560.4(ROR2):c.1318C>T (p.Gln440Ter) single nucleotide variant not provided [RCV003568916] Chr9:91726609 [GRCh38]
Chr9:94488891 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1573G>A (p.Ala525Thr) single nucleotide variant Inborn genetic diseases [RCV003263125] Chr9:91724921 [GRCh38]
Chr9:94487203 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2429C>T (p.Pro810Leu) single nucleotide variant ROR2-related disorder [RCV004538980] Chr9:91724065 [GRCh38]
Chr9:94486347 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2324C>G (p.Thr775Ser) single nucleotide variant Inborn genetic diseases [RCV003352261] Chr9:91724170 [GRCh38]
Chr9:94486452 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2033A>G (p.Tyr678Cys) single nucleotide variant Inborn genetic diseases [RCV003365086] Chr9:91724461 [GRCh38]
Chr9:94486743 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2556T>G (p.Pro852=) single nucleotide variant not provided [RCV003874543] Chr9:91723938 [GRCh38]
Chr9:94486220 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.810C>T (p.Ile270=) single nucleotide variant not provided [RCV003690849] Chr9:91733249 [GRCh38]
Chr9:94495531 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.82G>A (p.Val28Met) single nucleotide variant not provided [RCV003874363] Chr9:91949882 [GRCh38]
Chr9:94712164 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.645G>A (p.Thr215=) single nucleotide variant not provided [RCV003570633] Chr9:91733414 [GRCh38]
Chr9:94495696 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.377A>C (p.Asp126Ala) single nucleotide variant not provided [RCV003543751] Chr9:91757358 [GRCh38]
Chr9:94519640 [GRCh37]
Chr9:9q22.31		 uncertain significance
Single allele deletion not provided [RCV003448676] Chr9:92679543..109378847 [GRCh37]
Chr9:9q22.2-31.2		 pathogenic
NM_004560.4(ROR2):c.2549A>T (p.Gln850Leu) single nucleotide variant not provided [RCV003568915] Chr9:91723945 [GRCh38]
Chr9:94486227 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1034C>G (p.Pro345Arg) single nucleotide variant not provided [RCV003430129] Chr9:91731059 [GRCh38]
Chr9:94493341 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2254del (p.Leu752fs) deletion Brachydactyly type B1 [RCV003388345] Chr9:91724240 [GRCh38]
Chr9:94486522 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1079G>C (p.Gly360Ala) single nucleotide variant not provided [RCV003430128] Chr9:91731014 [GRCh38]
Chr9:94493296 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2632C>G (p.Pro878Ala) single nucleotide variant ROR2-related disorder [RCV004536673] Chr9:91723862 [GRCh38]
Chr9:94486144 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2729A>G (p.Gln910Arg) single nucleotide variant ROR2-related disorder [RCV004534413] Chr9:91723765 [GRCh38]
Chr9:94486047 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2350G>A (p.Ala784Thr) single nucleotide variant not provided [RCV003882393] Chr9:91724144 [GRCh38]
Chr9:94486426 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1490C>A (p.Pro497Gln) single nucleotide variant not provided [RCV003662696] Chr9:91725004 [GRCh38]
Chr9:94487286 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1539G>A (p.Ala513=) single nucleotide variant not provided [RCV003878229] Chr9:91724955 [GRCh38]
Chr9:94487237 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2430C>G (p.Pro810=) single nucleotide variant not provided [RCV003695047] Chr9:91724064 [GRCh38]
Chr9:94486346 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1261C>G (p.Leu421Val) single nucleotide variant not provided [RCV003824932] Chr9:91726666 [GRCh38]
Chr9:94488948 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.906C>T (p.Arg302=) single nucleotide variant not provided [RCV003714140] Chr9:91733153 [GRCh38]
Chr9:94495435 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1436T>C (p.Leu479Pro) single nucleotide variant not provided [RCV003694380] Chr9:91725058 [GRCh38]
Chr9:94487340 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1199G>C (p.Ser400Thr) single nucleotide variant not provided [RCV003546354] Chr9:91726728 [GRCh38]
Chr9:94489010 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.175+5G>A single nucleotide variant not provided [RCV003879313] Chr9:91775736 [GRCh38]
Chr9:94538018 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2411T>C (p.Met804Thr) single nucleotide variant not provided [RCV003546025] Chr9:91724083 [GRCh38]
Chr9:94486365 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.623-20G>A single nucleotide variant not provided [RCV003882286] Chr9:91733456 [GRCh38]
Chr9:94495738 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1720G>A (p.Val574Met) single nucleotide variant not provided [RCV003825631] Chr9:91724774 [GRCh38]
Chr9:94487056 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1887G>A (p.Val629=) single nucleotide variant not provided [RCV003660272] Chr9:91724607 [GRCh38]
Chr9:94486889 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1852A>G (p.Thr618Ala) single nucleotide variant not provided [RCV003713487] Chr9:91724642 [GRCh38]
Chr9:94486924 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1777G>A (p.Val593Met) single nucleotide variant not provided [RCV003875783] Chr9:91724717 [GRCh38]
Chr9:94486999 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2135C>T (p.Pro712Leu) single nucleotide variant not provided [RCV003574391] Chr9:91724359 [GRCh38]
Chr9:94486641 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.417C>T (p.Asn139=) single nucleotide variant not provided [RCV003878522] Chr9:91757318 [GRCh38]
Chr9:94519600 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.637A>G (p.Ile213Val) single nucleotide variant not provided [RCV003662951] Chr9:91733422 [GRCh38]
Chr9:94495704 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.941A>G (p.His314Arg) single nucleotide variant not provided [RCV003825028] Chr9:91731152 [GRCh38]
Chr9:94493434 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1184-18A>G single nucleotide variant not provided [RCV003716645] Chr9:91726761 [GRCh38]
Chr9:94489043 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.277G>A (p.Val93Met) single nucleotide variant not provided [RCV003660749] Chr9:91757458 [GRCh38]
Chr9:94519740 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.388A>T (p.Thr130Ser) single nucleotide variant not provided [RCV003545240] Chr9:91757347 [GRCh38]
Chr9:94519629 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1300G>C (p.Ala434Pro) single nucleotide variant not provided [RCV003573410] Chr9:91726627 [GRCh38]
Chr9:94488909 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1706C>T (p.Ser569Leu) single nucleotide variant not provided [RCV003811222] Chr9:91724788 [GRCh38]
Chr9:94487070 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2076C>G (p.Pro692=) single nucleotide variant not provided [RCV003833344] Chr9:91724418 [GRCh38]
Chr9:94486700 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1716G>C (p.Ser572=) single nucleotide variant not provided [RCV003850133] Chr9:91724778 [GRCh38]
Chr9:94487060 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1148A>G (p.Asn383Ser) single nucleotide variant not provided [RCV003723195] Chr9:91730945 [GRCh38]
Chr9:94493227 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1800G>C (p.Ala600=) single nucleotide variant not provided [RCV003548542] Chr9:91724694 [GRCh38]
Chr9:94486976 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.139dup (p.Leu47fs) duplication not provided [RCV003852495] Chr9:91775776..91775777 [GRCh38]
Chr9:94538058..94538059 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.1341G>A (p.Ser447=) single nucleotide variant not provided [RCV003726832] Chr9:91726586 [GRCh38]
Chr9:94488868 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.219T>G (p.Ile73Met) single nucleotide variant not provided [RCV003674017] Chr9:91757516 [GRCh38]
Chr9:94519798 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1286G>A (p.Arg429Gln) single nucleotide variant not provided [RCV003856613] Chr9:91726641 [GRCh38]
Chr9:94488923 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.757C>T (p.Arg253Cys) single nucleotide variant not provided [RCV003834715] Chr9:91733302 [GRCh38]
Chr9:94495584 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1646T>C (p.Leu549Pro) single nucleotide variant not provided [RCV003726579] Chr9:91724848 [GRCh38]
Chr9:94487130 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1794G>C (p.Gln598His) single nucleotide variant not provided [RCV003855231] Chr9:91724700 [GRCh38]
Chr9:94486982 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.672A>G (p.Ser224=) single nucleotide variant not provided [RCV003832425] Chr9:91733387 [GRCh38]
Chr9:94495669 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.119C>T (p.Pro40Leu) single nucleotide variant not provided [RCV003724391] Chr9:91775797 [GRCh38]
Chr9:94538079 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.604A>G (p.Ile202Val) single nucleotide variant not provided [RCV003700245] Chr9:91737409 [GRCh38]
Chr9:94499691 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2223C>T (p.Asp741=) single nucleotide variant not provided [RCV003667039] Chr9:91724271 [GRCh38]
Chr9:94486553 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2789A>T (p.Asp930Val) single nucleotide variant not provided [RCV003671747] Chr9:91723705 [GRCh38]
Chr9:94485987 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2747A>C (p.Glu916Ala) single nucleotide variant not provided [RCV003811312] Chr9:91723747 [GRCh38]
Chr9:94486029 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.712C>T (p.Leu238=) single nucleotide variant not provided [RCV003667060] Chr9:91733347 [GRCh38]
Chr9:94495629 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.984A>G (p.Ala328=) single nucleotide variant not provided [RCV003814972] Chr9:91731109 [GRCh38]
Chr9:94493391 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2806G>A (p.Glu936Lys) single nucleotide variant not provided [RCV003837539] Chr9:91723688 [GRCh38]
Chr9:94485970 [GRCh37]
Chr9:9q22.31		 benign
NM_004560.4(ROR2):c.2544G>A (p.Pro848=) single nucleotide variant not provided [RCV003730603] Chr9:91723950 [GRCh38]
Chr9:94486232 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2693A>G (p.Gln898Arg) single nucleotide variant not provided [RCV003705234] Chr9:91723801 [GRCh38]
Chr9:94486083 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.731G>C (p.Arg244Pro) single nucleotide variant not provided [RCV003728487] Chr9:91733328 [GRCh38]
Chr9:94495610 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1823G>A (p.Ser608Asn) single nucleotide variant not provided [RCV003819828] Chr9:91724671 [GRCh38]
Chr9:94486953 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2731G>A (p.Glu911Lys) single nucleotide variant not provided [RCV003843623] Chr9:91723763 [GRCh38]
Chr9:94486045 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.88C>G (p.Arg30Gly) single nucleotide variant not provided [RCV003841193] Chr9:91949876 [GRCh38]
Chr9:94712158 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1027C>T (p.Gln343Ter) single nucleotide variant not provided [RCV003565192] Chr9:91731066 [GRCh38]
Chr9:94493348 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_004560.4(ROR2):c.162T>A (p.Ile54=) single nucleotide variant not provided [RCV003564215] Chr9:91775754 [GRCh38]
Chr9:94538036 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.463+17A>G single nucleotide variant not provided [RCV003857043] Chr9:91757255 [GRCh38]
Chr9:94519537 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1531G>A (p.Asp511Asn) single nucleotide variant not provided [RCV003679835] Chr9:91724963 [GRCh38]
Chr9:94487245 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2013C>T (p.Ile671=) single nucleotide variant not provided [RCV003841477] Chr9:91724481 [GRCh38]
Chr9:94486763 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2273C>T (p.Ser758Leu) single nucleotide variant not provided [RCV003735920] Chr9:91724221 [GRCh38]
Chr9:94486503 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.640G>A (p.Gly214Ser) single nucleotide variant not provided [RCV003552753] Chr9:91733419 [GRCh38]
Chr9:94495701 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2229C>T (p.His743=) single nucleotide variant not provided [RCV003732740] Chr9:91724265 [GRCh38]
Chr9:94486547 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1368C>T (p.Leu456=) single nucleotide variant not provided [RCV003679765] Chr9:91726559 [GRCh38]
Chr9:94488841 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.752T>C (p.Leu251Pro) single nucleotide variant not provided [RCV003676121] Chr9:91733307 [GRCh38]
Chr9:94495589 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1321C>A (p.Arg441=) single nucleotide variant not provided [RCV003670651] Chr9:91726606 [GRCh38]
Chr9:94488888 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2479G>T (p.Val827Leu) single nucleotide variant not provided [RCV003565928] Chr9:91724015 [GRCh38]
Chr9:94486297 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1603_1605del (p.Asn535del) deletion not provided [RCV003563993] Chr9:91724889..91724891 [GRCh38]
Chr9:94487171..94487173 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1831G>A (p.Val611Met) single nucleotide variant not provided [RCV003734289] Chr9:91724663 [GRCh38]
Chr9:94486945 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2067C>T (p.Gly689=) single nucleotide variant not provided [RCV003565963] Chr9:91724427 [GRCh38]
Chr9:94486709 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2106G>A (p.Val702=) single nucleotide variant not provided [RCV003843313] Chr9:91724388 [GRCh38]
Chr9:94486670 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2213G>A (p.Arg738His) single nucleotide variant Inborn genetic diseases [RCV004373912]|not provided [RCV003712151] Chr9:91724281 [GRCh38]
Chr9:94486563 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1896A>G (p.Ser632=) single nucleotide variant not provided [RCV003719657] Chr9:91724598 [GRCh38]
Chr9:94486880 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1841A>G (p.Lys614Arg) single nucleotide variant not provided [RCV003733966] Chr9:91724653 [GRCh38]
Chr9:94486935 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1853C>T (p.Thr618Ile) single nucleotide variant not provided [RCV003679435] Chr9:91724641 [GRCh38]
Chr9:94486923 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.145G>T (p.Gly49Trp) single nucleotide variant not provided [RCV003710900] Chr9:91775771 [GRCh38]
Chr9:94538053 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2134C>T (p.Pro712Ser) single nucleotide variant not provided [RCV003556716] Chr9:91724360 [GRCh38]
Chr9:94486642 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.888C>G (p.Asp296Glu) single nucleotide variant not provided [RCV003683386] Chr9:91733171 [GRCh38]
Chr9:94495453 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2191G>A (p.Glu731Lys) single nucleotide variant not provided [RCV003719631] Chr9:91724303 [GRCh38]
Chr9:94486585 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1802C>G (p.Ala601Gly) single nucleotide variant not provided [RCV003859216] Chr9:91724692 [GRCh38]
Chr9:94486974 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1495G>C (p.Glu499Gln) single nucleotide variant not provided [RCV003846444] Chr9:91724999 [GRCh38]
Chr9:94487281 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q22.31(chr9:94666957-95345707)x3 copy number gain not specified [RCV003986810] Chr9:94666957..95345707 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2627C>T (p.Thr876Met) single nucleotide variant not provided [RCV003867185] Chr9:91723867 [GRCh38]
Chr9:94486149 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2460C>G (p.Pro820=) single nucleotide variant not provided [RCV003563490] Chr9:91724034 [GRCh38]
Chr9:94486316 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1369A>G (p.Ile457Val) single nucleotide variant not provided [RCV003845062] Chr9:91726558 [GRCh38]
Chr9:94488840 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1366C>T (p.Leu456Phe) single nucleotide variant not provided [RCV003552070] Chr9:91726561 [GRCh38]
Chr9:94488843 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.414C>T (p.Thr138=) single nucleotide variant not provided [RCV003737489] Chr9:91757321 [GRCh38]
Chr9:94519603 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1731C>T (p.Thr577=) single nucleotide variant not provided [RCV003737491] Chr9:91724763 [GRCh38]
Chr9:94487045 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1316C>T (p.Pro439Leu) single nucleotide variant not provided [RCV003853758] Chr9:91726611 [GRCh38]
Chr9:94488893 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.51C>T (p.Ala17=) single nucleotide variant not provided [RCV003720543] Chr9:91949913 [GRCh38]
Chr9:94712195 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2517G>A (p.Pro839=) single nucleotide variant not provided [RCV003732453] Chr9:91723977 [GRCh38]
Chr9:94486259 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2233C>A (p.Arg745=) single nucleotide variant not provided [RCV003553841] Chr9:91724261 [GRCh38]
Chr9:94486543 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.448C>G (p.Leu150Val) single nucleotide variant not provided [RCV003682495] Chr9:91757287 [GRCh38]
Chr9:94519569 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2597G>C (p.Ser866Thr) single nucleotide variant not provided [RCV003566205] Chr9:91723897 [GRCh38]
Chr9:94486179 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1803G>A (p.Ala601=) single nucleotide variant not provided [RCV003731193] Chr9:91724691 [GRCh38]
Chr9:94486973 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.2116C>T (p.Arg706Trp) single nucleotide variant Inborn genetic diseases [RCV004673964]|not provided [RCV003727189] Chr9:91724378 [GRCh38]
Chr9:94486660 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2477C>A (p.Pro826Gln) single nucleotide variant not provided [RCV003845212] Chr9:91724017 [GRCh38]
Chr9:94486299 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.762C>T (p.Asp254=) single nucleotide variant ROR2-related disorder [RCV004545691] Chr9:91733297 [GRCh38]
Chr9:94495579 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1674C>T (p.His558=) single nucleotide variant ROR2-related disorder [RCV004532167] Chr9:91724820 [GRCh38]
Chr9:94487102 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.1362G>A (p.Met454Ile) single nucleotide variant Inborn genetic diseases [RCV004449534] Chr9:91726565 [GRCh38]
Chr9:94488847 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1752G>C (p.Lys584Asn) single nucleotide variant Inborn genetic diseases [RCV004449536] Chr9:91724742 [GRCh38]
Chr9:94487024 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1763A>T (p.Glu588Val) single nucleotide variant Inborn genetic diseases [RCV004449537] Chr9:91724731 [GRCh38]
Chr9:94487013 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.224A>G (p.Gln75Arg) single nucleotide variant Inborn genetic diseases [RCV004449538] Chr9:91757511 [GRCh38]
Chr9:94519793 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2290G>A (p.Ala764Thr) single nucleotide variant Inborn genetic diseases [RCV004449539] Chr9:91724204 [GRCh38]
Chr9:94486486 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2381C>T (p.Pro794Leu) single nucleotide variant Inborn genetic diseases [RCV004449540] Chr9:91724113 [GRCh38]
Chr9:94486395 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2447A>G (p.Gln816Arg) single nucleotide variant Inborn genetic diseases [RCV004449542] Chr9:91724047 [GRCh38]
Chr9:94486329 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2785T>C (p.Cys929Arg) single nucleotide variant Inborn genetic diseases [RCV004449543] Chr9:91723709 [GRCh38]
Chr9:94485991 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1086C>G (p.His362Gln) single nucleotide variant Autosomal recessive Robinow syndrome [RCV003992089] Chr9:91731007 [GRCh38]
Chr9:94493289 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1906C>G (p.Leu636Val) single nucleotide variant not provided [RCV004585727] Chr9:91724588 [GRCh38]
Chr9:94486870 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.2358C>G (p.Tyr786Ter) single nucleotide variant Autosomal recessive Robinow syndrome [RCV004556003] Chr9:91724136 [GRCh38]
Chr9:94486418 [GRCh37]
Chr9:9q22.31		 uncertain significance
NC_000009.11:g.(?_94485944)_(94712245_?)dup duplication not provided [RCV004582094] Chr9:94485944..94712245 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.839G>A (p.Arg280Gln) single nucleotide variant Inborn genetic diseases [RCV004665620] Chr9:91733220 [GRCh38]
Chr9:94495502 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.954C>G (p.Asn318Lys) single nucleotide variant Inborn genetic diseases [RCV004674171] Chr9:91731139 [GRCh38]
Chr9:94493421 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1037A>T (p.His346Leu) single nucleotide variant not provided [RCV004770546] Chr9:91731056 [GRCh38]
Chr9:94493338 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_004560.4(ROR2):c.1902G>A (p.Leu634=) single nucleotide variant ROR2-related disorder [RCV004735204] Chr9:91724592 [GRCh38]
Chr9:94486874 [GRCh37]
Chr9:9q22.31		 likely benign
NM_004560.4(ROR2):c.*236G>A single nucleotide variant not provided [RCV004722202] Chr9:91723426 [GRCh38]
Chr9:94485708 [GRCh37]
Chr9:9q22.31		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1421
Count of miRNA genes:777
Interacting mature miRNAs:913
Transcripts:ENST00000375708, ENST00000375715, ENST00000476440, ENST00000493846, ENST00000495386, ENST00000546883, ENST00000548585, ENST00000550066
Prediction methods:Microtar, Miranda, Rnahybrid
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
406914017GWAS562993_Hglaucoma QTL GWAS562993 (human)0.000008glaucoma99193308791933088Human
406914016GWAS562992_Hglaucoma QTL GWAS562992 (human)0.000008glaucoma99193304791933048Human
407284196GWAS933172_Hvaginal microbiome measurement QTL GWAS933172 (human)0.000004vaginal microbiome measurement99184239891842399Human
407214599GWAS863575_Hneuroimaging measurement QTL GWAS863575 (human)1e-08neuroimaging measurement99189527191895272Human
407181766GWAS830742_Hfacial morphology measurement QTL GWAS830742 (human)6e-09facial morphology measurement99172364691723647Human
407082055GWAS731031_Hbody mass index QTL GWAS731031 (human)0.0000002body mass indexbody mass index (BMI) (CMO:0000105)99180614291806143Human
407294115GWAS943091_HCOVID-19 QTL GWAS943091 (human)0.000006COVID-1999173751591737516Human
406929095GWAS578071_Hfacial morphology measurement QTL GWAS578071 (human)9e-09facial morphology measurement99172364691723647Human
406959782GWAS608758_Hnose morphology measurement QTL GWAS608758 (human)7e-09nose morphology measurementnose measurement (CMO:0003147)99172403991724040Human
406912105GWAS561081_Hlobe attachment QTL GWAS561081 (human)0.000004lobe attachmentear measurement (CMO:0002667)99172403991724040Human
407272236GWAS921212_Hbody height QTL GWAS921212 (human)1e-30body height (VT:0001253)body height (CMO:0000106)99183792591837926Human
407272234GWAS921210_Hbody height QTL GWAS921210 (human)3e-169body height (VT:0001253)body height (CMO:0000106)99172403991724040Human
407412358GWAS1061334_Hhigh density lipoprotein cholesterol measurement QTL GWAS1061334 (human)2e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)99181897691818977Human
407033938GWAS682914_Hbody height QTL GWAS682914 (human)1e-28body height (VT:0001253)body height (CMO:0000106)99172403991724040Human
406960081GWAS609057_Htyrosine-protein kinase transmembrane receptor ROR2 measurement QTL GWAS609057 (human)3e-33tyrosine-protein kinase transmembrane receptor ROR2 measurement99173332691733327Human
406960080GWAS609056_Htyrosine-protein kinase transmembrane receptor ROR2 measurement QTL GWAS609056 (human)2e-15tyrosine-protein kinase transmembrane receptor ROR2 measurement99192417191924172Human
407189840GWAS838816_HStuttering QTL GWAS838816 (human)0.000003Stuttering99182368191823682Human
407046203GWAS695179_Hempathy measurement QTL GWAS695179 (human)0.000007empathy measurement99178415091784151Human
407275838GWAS924814_Hlower face morphology measurement QTL GWAS924814 (human)2e-08facial morphology trait (VT:0003743)99190032291900323Human
407153821GWAS802797_HAlzheimer disease, APOE carrier status QTL GWAS802797 (human)0.000006Alzheimer disease, APOE carrier status99190137891901379Human
406914015GWAS562991_Hglaucoma QTL GWAS562991 (human)0.000008glaucoma99192936291929363Human
406914014GWAS562990_Hglaucoma QTL GWAS562990 (human)0.000008glaucoma99192934591929346Human

Markers in Region
D9S2051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,485,553 - 94,485,656UniSTSGRCh37
Build 36993,525,374 - 93,525,477RGDNCBI36
Celera964,922,452 - 64,922,555RGD
Cytogenetic Map9q22UniSTS
HuRef964,163,709 - 64,163,812UniSTS
Stanford-G3 RH Map93061.0UniSTS
NCBI RH Map9769.7UniSTS
GeneMap99-G3 RH Map92959.0UniSTS
RH66768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,493,233 - 94,493,412UniSTSGRCh37
Build 36993,533,054 - 93,533,233RGDNCBI36
Celera964,930,128 - 64,930,307RGD
Cytogenetic Map9q22UniSTS
HuRef964,171,390 - 64,171,569UniSTS
GeneMap99-GB4 RH Map9303.18UniSTS
NCBI RH Map9779.1UniSTS
RH92164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,652,589 - 94,652,754UniSTSGRCh37
Build 36993,692,410 - 93,692,575RGDNCBI36
Celera965,088,896 - 65,089,061RGD
Cytogenetic Map9q22UniSTS
HuRef964,330,346 - 64,330,511UniSTS
GeneMap99-GB4 RH Map9303.41UniSTS
G54476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,701,595 - 94,701,817UniSTSGRCh37
Build 36993,741,416 - 93,741,638RGDNCBI36
Celera965,137,903 - 65,138,125RGD
Cytogenetic Map9q22UniSTS
HuRef964,379,262 - 64,379,484UniSTS
G54475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,678,577 - 94,678,776UniSTSGRCh37
Build 36993,718,398 - 93,718,597RGDNCBI36
Celera965,114,885 - 65,115,084RGD
Cytogenetic Map9q22UniSTS
HuRef964,356,246 - 64,356,445UniSTS
G54539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,488,682 - 94,488,836UniSTSGRCh37
Build 36993,528,503 - 93,528,657RGDNCBI36
Celera964,925,577 - 64,925,731RGD
Cytogenetic Map9q22UniSTS
HuRef964,166,838 - 64,166,992UniSTS
SHGC-148721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,532,318 - 94,532,591UniSTSGRCh37
Build 36993,572,139 - 93,572,412RGDNCBI36
Celera964,969,212 - 64,969,485RGD
Cytogenetic Map9q22UniSTS
HuRef964,210,478 - 64,210,751UniSTS
TNG Radiation Hybrid Map933201.0UniSTS
SHGC-149914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,506,916 - 94,507,212UniSTSGRCh37
Build 36993,546,737 - 93,547,033RGDNCBI36
Celera964,943,810 - 64,944,106RGD
Cytogenetic Map9q22UniSTS
HuRef964,185,074 - 64,185,370UniSTS
TNG Radiation Hybrid Map933190.0UniSTS
PMC114715P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,486,543 - 94,487,095UniSTSGRCh37
Build 36993,526,364 - 93,526,916RGDNCBI36
Celera964,923,438 - 64,923,990RGD
Cytogenetic Map9q22UniSTS
HuRef964,164,699 - 64,165,251UniSTS
PMC114715P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,486,543 - 94,486,788UniSTSGRCh37
Build 36993,526,364 - 93,526,609RGDNCBI36
Celera964,923,438 - 64,923,683RGD
Cytogenetic Map9q22UniSTS
HuRef964,164,699 - 64,164,944UniSTS
ROR2__5517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,484,885 - 94,485,680UniSTSGRCh37
Build 36993,524,706 - 93,525,501RGDNCBI36
Celera964,921,784 - 64,922,579RGD
HuRef964,163,041 - 64,163,836UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2369 2786 2234 4878 1697 2266 6 604 1574 443 2223 6830 6093 41 3686 1 821 1715 1555 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA463746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA626834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL583841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL928802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI089313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ446244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M97639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000375708   ⟹   ENSP00000364860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl991,722,601 - 91,950,228 (-)Ensembl
Ensembl Acc Id: ENST00000375715   ⟹   ENSP00000364867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl991,563,091 - 91,948,880 (-)Ensembl
Ensembl Acc Id: ENST00000476440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl991,923,653 - 91,949,906 (-)Ensembl
Ensembl Acc Id: ENST00000493846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl991,923,668 - 91,948,715 (-)Ensembl
Ensembl Acc Id: ENST00000495386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl991,757,334 - 91,948,676 (-)Ensembl
Ensembl Acc Id: ENST00000546883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl991,757,436 - 91,948,741 (-)Ensembl
Ensembl Acc Id: ENST00000548585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl991,755,940 - 91,775,781 (-)Ensembl
Ensembl Acc Id: ENST00000550066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl991,722,602 - 91,887,199 (-)Ensembl
RefSeq Acc Id: NM_001318204   ⟹   NP_001305133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,726,447 - 91,950,228 (-)NCBI
CHM1_1994,635,719 - 94,858,883 (-)NCBI
T2T-CHM13v2.09103,893,177 - 104,116,677 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004560   ⟹   NP_004551
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,722,601 - 91,950,228 (-)NCBI
GRCh37994,484,878 - 94,712,444 (-)ENTREZGENE
Build 36993,524,705 - 93,752,265 (-)NCBI Archive
HuRef964,163,034 - 64,390,111 (-)ENTREZGENE
CHM1_1994,631,872 - 94,858,883 (-)NCBI
T2T-CHM13v2.09103,889,331 - 104,116,677 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005252008   ⟹   XP_005252065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,722,601 - 91,948,728 (-)NCBI
GRCh37994,484,878 - 94,712,444 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005252009   ⟹   XP_005252066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,722,601 - 91,731,031 (-)NCBI
GRCh37994,484,878 - 94,712,444 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717121   ⟹   XP_006717184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,722,601 - 91,818,355 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014762   ⟹   XP_016870251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,722,601 - 91,832,366 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423434   ⟹   XP_047279390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,722,601 - 91,884,474 (-)NCBI
RefSeq Acc Id: XM_047423435   ⟹   XP_047279391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,722,601 - 91,948,728 (-)NCBI
RefSeq Acc Id: XM_047423436   ⟹   XP_047279392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,722,601 - 91,948,728 (-)NCBI
RefSeq Acc Id: XM_047423437   ⟹   XP_047279393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,722,601 - 91,948,728 (-)NCBI
RefSeq Acc Id: XM_054363029   ⟹   XP_054219004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09103,889,331 - 103,998,834 (-)NCBI
RefSeq Acc Id: XM_054363030   ⟹   XP_054219005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09103,889,331 - 104,058,482 (-)NCBI
RefSeq Acc Id: XM_054363031   ⟹   XP_054219006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09103,889,331 - 104,052,280 (-)NCBI
RefSeq Acc Id: XM_054363032   ⟹   XP_054219007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09103,889,331 - 104,115,318 (-)NCBI
RefSeq Acc Id: XM_054363033   ⟹   XP_054219008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09103,889,331 - 104,115,318 (-)NCBI
RefSeq Acc Id: XM_054363034   ⟹   XP_054219009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09103,889,331 - 103,984,773 (-)NCBI
RefSeq Acc Id: XM_054363035   ⟹   XP_054219010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09103,889,331 - 103,897,763 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001305133 (Get FASTA)   NCBI Sequence Viewer  
  NP_004551 (Get FASTA)   NCBI Sequence Viewer  
  XP_005252065 (Get FASTA)   NCBI Sequence Viewer  
  XP_005252066 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717184 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870251 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279390 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279391 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279392 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279393 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219004 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219005 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219006 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219007 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219008 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219009 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219010 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60276 (Get FASTA)   NCBI Sequence Viewer  
  AAG01184 (Get FASTA)   NCBI Sequence Viewer  
  AAG33132 (Get FASTA)   NCBI Sequence Viewer  
  AAI30523 (Get FASTA)   NCBI Sequence Viewer  
  BAD92391 (Get FASTA)   NCBI Sequence Viewer  
  EAW62798 (Get FASTA)   NCBI Sequence Viewer  
  EAW62799 (Get FASTA)   NCBI Sequence Viewer  
  EAW62800 (Get FASTA)   NCBI Sequence Viewer  
  EAW62801 (Get FASTA)   NCBI Sequence Viewer  
  EAW62802 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000364860
  ENSP00000364860.3
  ENSP00000364867.1
GenBank Protein Q01974 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004551   ⟸   NM_004560
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9HAY7 (UniProtKB/Swiss-Prot),   Q5SPI5 (UniProtKB/Swiss-Prot),   Q59GF5 (UniProtKB/Swiss-Prot),   Q9HB61 (UniProtKB/Swiss-Prot),   Q01974 (UniProtKB/Swiss-Prot),   A1L4F5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005252065   ⟸   XM_005252008
- Peptide Label: isoform X2
- UniProtKB: A1L4F5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005252066   ⟸   XM_005252009
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006717184   ⟸   XM_006717121
- Peptide Label: isoform X2
- UniProtKB: A1L4F5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305133   ⟸   NM_001318204
- Peptide Label: isoform 2 precursor
- UniProtKB: Q01974 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016870251   ⟸   XM_017014762
- Peptide Label: isoform X1
- UniProtKB: A1L4F5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000364860   ⟸   ENST00000375708
Ensembl Acc Id: ENSP00000364867   ⟸   ENST00000375715
RefSeq Acc Id: XP_047279392   ⟸   XM_047423436
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279391   ⟸   XM_047423435
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279393   ⟸   XM_047423437
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279390   ⟸   XM_047423434
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219008   ⟸   XM_054363033
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219007   ⟸   XM_054363032
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219005   ⟸   XM_054363030
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219006   ⟸   XM_054363031
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219004   ⟸   XM_054363029
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219009   ⟸   XM_054363034
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219010   ⟸   XM_054363035
- Peptide Label: isoform X3
Protein Domains
FZ   Ig-like   Ig-like C2-type   Kringle   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q01974-F1-model_v2 AlphaFold Q01974 1-943 view protein structure

Promoters
RGD ID:7215453
Promoter ID:EPDNEW_H13473
Type:single initiation site
Name:ROR2_2
Description:receptor tyrosine kinase like orphan receptor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13474  EPDNEW_H13475  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,856,851 - 91,856,911EPDNEW
RGD ID:7215455
Promoter ID:EPDNEW_H13474
Type:initiation region
Name:ROR2_3
Description:receptor tyrosine kinase like orphan receptor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13473  EPDNEW_H13475  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,948,812 - 91,948,872EPDNEW
RGD ID:7215459
Promoter ID:EPDNEW_H13475
Type:initiation region
Name:ROR2_1
Description:receptor tyrosine kinase like orphan receptor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13473  EPDNEW_H13474  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,950,162 - 91,950,222EPDNEW
RGD ID:6808057
Promoter ID:HG_KWN:63998
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000375710,   ENST00000375715,   OTTHUMT00000053042,   OTTHUMT00000053043
Position:
Human AssemblyChrPosition (strand)Source
Build 36993,750,811 - 93,751,311 (-)MPROMDB
RGD ID:6808056
Promoter ID:HG_KWN:63999
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   NB4
Transcripts:OTTHUMT00000053040,   OTTHUMT00000053044,   UC004ARK.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36993,752,096 - 93,752,596 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10257 AgrOrtholog
COSMIC ROR2 COSMIC
Ensembl Genes ENSG00000169071 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000375708 ENTREZGENE
  ENST00000375708.4 UniProtKB/Swiss-Prot
  ENST00000375715.5 UniProtKB/TrEMBL
  ENST00000550066 ENTREZGENE
Gene3D-CATH 1.10.2000.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169071 GTEx
HGNC ID HGNC:10257 ENTREZGENE
Human Proteome Map ROR2 Human Proteome Map
InterPro Frizzled_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RTK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_rcpt_ROR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4920 UniProtKB/Swiss-Prot
NCBI Gene 4920 ENTREZGENE
OMIM 602337 OMIM
PANTHER TYROSINE-PROTEIN KINASE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYROSINE-PROTEIN KINASE TRANSMEMBRANE RECEPTOR ROR2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF01392 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34629 PharmGKB
PIRSF TyrPK_TMrec_ROR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS KRINGLE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRINGLE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRINGLE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50038 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A1L4F5 ENTREZGENE, UniProtKB/TrEMBL
  B1APY4_HUMAN UniProtKB/TrEMBL
  Q01974 ENTREZGENE
  Q59GF5 ENTREZGENE
  Q5SPI5 ENTREZGENE
  Q9HAY7 ENTREZGENE
  Q9HB61 ENTREZGENE
  ROR2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A024R242 UniProtKB/TrEMBL
  Q59GF5 UniProtKB/Swiss-Prot
  Q5SPI5 UniProtKB/Swiss-Prot
  Q9HAY7 UniProtKB/Swiss-Prot
  Q9HB61 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-04-14 ROR2  receptor tyrosine kinase like orphan receptor 2  LOC101927935  uncharacterized LOC101927935  Data merged from RGD:38644378 737654 PROVISIONAL
2016-04-04 ROR2  receptor tyrosine kinase like orphan receptor 2    receptor tyrosine kinase-like orphan receptor 2  Symbol and/or name change 5135510 APPROVED