EXT2 (exostosin glycosyltransferase 2) - Rat Genome Database

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Gene: EXT2 (exostosin glycosyltransferase 2) Homo sapiens
Analyze
Symbol: EXT2
Name: exostosin glycosyltransferase 2
RGD ID: 1317052
HGNC Page HGNC
Description: Exhibits glucuronosyltransferase activity and protein heterodimerization activity. Contributes to acetylglucosaminyltransferase activity. Involved in glycosaminoglycan biosynthetic process; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; and ossification. Localizes to Golgi apparatus and UDP-N-acetylglucosamine transferase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: exostosin 2; exostosin-2; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; multiple exostoses protein 2; multiple exostosis 2; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; putative tumor suppressor protein EXT2; SOTV; SSMS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1144,095,648 - 44,251,962 (+)EnsemblGRCh38hg38GRCh38
GRCh381144,095,678 - 44,251,962 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371144,117,228 - 44,273,512 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361144,073,675 - 44,223,556 (+)NCBINCBI36hg18NCBI36
Build 341144,073,674 - 44,223,555NCBI
Celera1144,264,389 - 44,414,268 (+)NCBI
Cytogenetic Map11p11.2NCBI
HuRef1143,826,189 - 43,975,955 (+)NCBIHuRef
CHM1_11144,116,142 - 44,266,006 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
Abnormal pericardium morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of femur morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the humerus  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the metaphysis  (IAGP)
Abnormality of the outer ear  (IAGP)
Abnormality of the skin  (IAGP)
Abnormality of tibia morphology  (IAGP)
Anemia  (IAGP)
Anteverted nares  (IAGP)
Atrial septal defect  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Avascular necrosis  (IAGP)
Bone pain  (IAGP)
Brachycephaly  (IAGP)
Broad nasal tip  (IAGP)
Broad-based gait  (IAGP)
Bulbous nose  (IAGP)
Cervical myelopathy  (IAGP)
Chondrosarcoma  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Constipation  (IAGP)
Coxa vara  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Decreased skull ossification  (IAGP)
Delayed puberty  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal tip  (IAGP)
Downturned corners of mouth  (IAGP)
Elbow dislocation  (IAGP)
Epicanthus  (IAGP)
Exostoses  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Flat forehead  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
High forehead  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypoplastic philtrum  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Juvenile onset  (IAGP)
Long philtrum  (IAGP)
Macrocephaly  (IAGP)
Madelung deformity  (IAGP)
Madelung-like forearm deformities  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Micropenis  (IAGP)
Motor delay  (IAGP)
Multiple exostoses  (IAGP)
Muscle weakness  (IAGP)
Nail dysplasia  (IAGP)
Nausea  (IAGP)
Nephroblastoma  (IAGP)
Nystagmus  (IAGP)
Osteoarthritis  (IAGP)
Osteolysis  (IAGP)
Overlapping toe  (IAGP)
Parietal foramina  (IAGP)
Patent ductus arteriosus  (IAGP)
Pelvic bone exostoses  (IAGP)
Peripheral nerve compression  (IAGP)
Pes planus  (IAGP)
Polyhydramnios  (IAGP)
Poor speech  (IAGP)
Preauricular skin tag  (IAGP)
Prominent forehead  (IAGP)
Prominent nasal bridge  (IAGP)
Protuberances at ends of long bones  (IAGP)
Radial bowing  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Rib exostoses  (IAGP)
Scapular exostoses  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short metacarpal  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Sparse hair  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Synostosis of joints  (IAGP)
Underdeveloped nasal alae  (IAGP)
Unsteady gait  (IAGP)
Vascular dilatation  (IAGP)
Ventricular septal defect  (IAGP)
References

Additional References at PubMed
PMID:7668264   PMID:8162019   PMID:8782816   PMID:8894688   PMID:9110175   PMID:9326317   PMID:9463333   PMID:9576285   PMID:9620772   PMID:9756849   PMID:10429361   PMID:10480354  
PMID:10545594   PMID:10639137   PMID:10679296   PMID:10679937   PMID:10738008   PMID:10878610   PMID:11169766   PMID:11170095   PMID:11391482   PMID:11432960   PMID:11668521   PMID:12477932  
PMID:12907669   PMID:12907685   PMID:14654969   PMID:15489334   PMID:15586175   PMID:15796962   PMID:16088908   PMID:16283885   PMID:16344560   PMID:16638657   PMID:17293876   PMID:17301954  
PMID:17353931   PMID:17589361   PMID:17676624   PMID:17761672   PMID:17786204   PMID:17928989   PMID:18210030   PMID:18294062   PMID:18337501   PMID:18373409   PMID:18544707   PMID:18597214  
PMID:18633108   PMID:18666861   PMID:19008344   PMID:19179614   PMID:19199708   PMID:19309273   PMID:19336475   PMID:19344451   PMID:19380854   PMID:19453261   PMID:19839753   PMID:19913121  
PMID:19933996   PMID:19946888   PMID:20140877   PMID:20301413   PMID:20379614   PMID:20418910   PMID:20571754   PMID:20580033   PMID:20628086   PMID:20813973   PMID:20872591   PMID:20879858  
PMID:21039224   PMID:21499719   PMID:21510814   PMID:21703028   PMID:21873635   PMID:21900206   PMID:21988832   PMID:22040554   PMID:22820392   PMID:23052945   PMID:23262345   PMID:23439489  
PMID:23450490   PMID:23629877   PMID:23871501   PMID:24120389   PMID:24532482   PMID:24728384   PMID:25207843   PMID:25230886   PMID:25449079   PMID:25468659   PMID:25541963   PMID:25591329  
PMID:25744876   PMID:26186194   PMID:26246518   PMID:26690531   PMID:26961984   PMID:27636706   PMID:27650265   PMID:27748933   PMID:28514442   PMID:28675297   PMID:28690282   PMID:28849184  
PMID:29104277   PMID:29180619   PMID:29507755   PMID:29529714   PMID:30075207   PMID:30288735   PMID:30334991   PMID:30730578   PMID:31030431   PMID:31073040   PMID:31400121   PMID:31452512  
PMID:32293802   PMID:33957083  


Genomics

Comparative Map Data
EXT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1144,095,648 - 44,251,962 (+)EnsemblGRCh38hg38GRCh38
GRCh381144,095,678 - 44,251,962 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371144,117,228 - 44,273,512 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361144,073,675 - 44,223,556 (+)NCBINCBI36hg18NCBI36
Build 341144,073,674 - 44,223,555NCBI
Celera1144,264,389 - 44,414,268 (+)NCBI
Cytogenetic Map11p11.2NCBI
HuRef1143,826,189 - 43,975,955 (+)NCBIHuRef
CHM1_11144,116,142 - 44,266,006 (+)NCBICHM1_1
Ext2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39293,525,976 - 93,652,913 (-)NCBIGRCm39mm39
GRCm39 Ensembl293,491,373 - 93,652,913 (-)Ensembl
GRCm38293,695,631 - 93,822,568 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl293,661,028 - 93,822,568 (-)EnsemblGRCm38mm10GRCm38
MGSCv37293,535,788 - 93,662,725 (-)NCBIGRCm37mm9NCBIm37
MGSCv36293,496,472 - 93,623,384 (-)NCBImm8
Celera295,099,313 - 95,226,251 (-)NCBICelera
Cytogenetic Map2E1NCBI
cM Map251.62NCBI
Ext2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2379,665,415 - 79,798,077 (-)NCBI
Rnor_6.0 Ensembl382,602,785 - 82,734,533 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0382,602,784 - 82,734,557 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0389,303,367 - 89,435,124 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4378,111,436 - 78,244,444 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1378,008,379 - 78,140,888 (-)NCBI
Celera378,867,721 - 79,000,170 (-)NCBICelera
Cytogenetic Map3q31NCBI
Ext2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554223,304,842 - 3,447,908 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554223,303,948 - 3,438,381 (-)NCBIChiLan1.0ChiLan1.0
EXT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11144,551,242 - 44,699,447 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1144,522,797 - 44,699,447 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01144,055,670 - 44,204,055 (+)NCBIMhudiblu_PPA_v0panPan3
EXT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11844,987,310 - 45,122,339 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1844,987,748 - 45,129,974 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1843,655,617 - 43,798,860 (-)NCBI
ROS_Cfam_1.01845,647,570 - 45,796,802 (-)NCBI
UMICH_Zoey_3.11845,130,584 - 45,263,356 (-)NCBI
UNSW_CanFamBas_1.01844,684,085 - 44,826,126 (-)NCBI
UU_Cfam_GSD_1.01845,420,394 - 45,563,983 (-)NCBI
Ext2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494722,233,504 - 22,377,538 (-)NCBI
SpeTri2.0NW_0049365624,345,146 - 4,489,180 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EXT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl218,100,379 - 18,232,025 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1218,099,790 - 18,239,229 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2219,709,056 - 19,849,479 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EXT2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1121,077,159 - 21,282,317 (-)NCBI
ChlSab1.1 Ensembl121,119,987 - 21,281,635 (-)Ensembl
Vero_WHO_p1.0NW_023666038118,305,404 - 118,502,345 (-)NCBI

Position Markers
D11S903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371144,145,910 - 44,146,054UniSTSGRCh37
GRCh371144,145,955 - 44,146,055UniSTSGRCh37
Build 361144,102,531 - 44,102,631RGDNCBI36
Celera1144,293,259 - 44,293,359RGD
Celera1144,293,214 - 44,293,358UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11p12-p11UniSTS
Cytogenetic Map11p13UniSTS
Marshfield Genetic Map1154.75UniSTS
Marshfield Genetic Map1154.75RGD
Genethon Genetic Map1159.5UniSTS
TNG Radiation Hybrid Map1121291.0UniSTS
deCODE Assembly Map1159.83UniSTS
Stanford-G3 RH Map112046.0UniSTS
GeneMap99-GB4 RH Map11153.21UniSTS
Whitehead-RH Map11146.7UniSTS
Whitehead-YAC Contig Map11 UniSTS
NCBI RH Map11268.1UniSTS
GeneMap99-G3 RH Map112046.0UniSTS
WI-20248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371144,266,162 - 44,266,421UniSTSGRCh37
Build 361144,222,738 - 44,222,997RGDNCBI36
Celera1144,413,450 - 44,413,709RGD
Cytogenetic Map11p12-p11UniSTS
HuRef1143,975,137 - 43,975,396UniSTS
GeneMap99-GB4 RH Map11153.41UniSTS
Whitehead-RH Map11146.7UniSTS
NCBI RH Map11268.1UniSTS
D11S3975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371144,221,449 - 44,221,679UniSTSGRCh37
Build 361144,178,025 - 44,178,255RGDNCBI36
Celera1144,368,751 - 44,368,981RGD
Cytogenetic Map11p12-p11UniSTS
HuRef1143,930,437 - 43,930,667UniSTS
D11S2263E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371144,221,451 - 44,221,576UniSTSGRCh37
Build 361144,178,027 - 44,178,152RGDNCBI36
Celera1144,368,753 - 44,368,878RGD
Cytogenetic Map11p12-p11UniSTS
HuRef1143,930,439 - 43,930,564UniSTS
GeneMap99-GB4 RH Map11151.74UniSTS
NCBI RH Map11268.1UniSTS
HSC1YH092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,917,029 - 2,917,179UniSTSGRCh37
GRCh371144,206,347 - 44,206,498UniSTSGRCh37
Build 361144,162,923 - 44,163,074RGDNCBI36
Celera182,792,475 - 2,792,625UniSTS
Celera1144,353,649 - 44,353,800RGD
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map11p12-p11UniSTS
HuRef182,878,310 - 2,878,460UniSTS
GeneMap99-GB4 RH Map1826.9UniSTS
Whitehead-RH Map1819.5UniSTS
RH98305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371144,221,459 - 44,221,642UniSTSGRCh37
Build 361144,178,035 - 44,178,218RGDNCBI36
Celera1144,368,761 - 44,368,944RGD
Cytogenetic Map11p12-p11UniSTS
HuRef1143,930,447 - 43,930,630UniSTS
GeneMap99-GB4 RH Map11169.25UniSTS
RH121355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371144,207,266 - 44,207,541UniSTSGRCh37
Build 361144,163,842 - 44,164,117RGDNCBI36
Celera1144,354,568 - 44,354,843RGD
Cytogenetic Map11p12-p11UniSTS
HuRef1143,916,250 - 43,916,525UniSTS
TNG Radiation Hybrid Map1121325.0UniSTS
D11S3805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371144,166,825 - 44,166,957UniSTSGRCh37
Build 361144,123,401 - 44,123,533RGDNCBI36
Celera1144,314,129 - 44,314,261RGD
Cytogenetic Map11p12-p11UniSTS
HuRef1143,875,915 - 43,876,047UniSTS
SHGC-149810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371144,182,189 - 44,182,468UniSTSGRCh37
Build 361144,138,765 - 44,139,044RGDNCBI36
Celera1144,329,495 - 44,329,774RGD
Cytogenetic Map11p12-p11UniSTS
HuRef1143,891,281 - 43,891,560UniSTS
TNG Radiation Hybrid Map1121310.0UniSTS
D11S4650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371144,266,275 - 44,266,416UniSTSGRCh37
Build 361144,222,851 - 44,222,992RGDNCBI36
Celera1144,413,563 - 44,413,704RGD
Cytogenetic Map11p12-p11UniSTS
HuRef1143,975,250 - 43,975,391UniSTS
Stanford-G3 RH Map112060.0UniSTS
NCBI RH Map11280.6UniSTS
GeneMap99-G3 RH Map112060.0UniSTS
STS-N22755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371144,266,762 - 44,266,922UniSTSGRCh37
Build 361144,223,338 - 44,223,498RGDNCBI36
Celera1144,414,050 - 44,414,210RGD
Cytogenetic Map11p12-p11UniSTS
HuRef1143,975,737 - 43,975,897UniSTS
GeneMap99-GB4 RH Map11162.87UniSTS
NCBI RH Map11268.1UniSTS
RH45722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371144,266,752 - 44,266,908UniSTSGRCh37
Build 361144,223,328 - 44,223,484RGDNCBI36
Celera1144,414,040 - 44,414,196RGD
Cytogenetic Map11p12-p11UniSTS
HuRef1143,975,727 - 43,975,883UniSTS
GeneMap99-GB4 RH Map11166.84UniSTS
NCBI RH Map11263.8UniSTS
GDB:313855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371144,208,457 - 44,208,675UniSTSGRCh37
Build 361144,165,033 - 44,165,251RGDNCBI36
Celera1144,355,759 - 44,355,977RGD
Cytogenetic Map11p12-p11UniSTS
HuRef1143,917,441 - 43,917,667UniSTS
D11S903  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p12-p11UniSTS
TNG Radiation Hybrid Map1121291.0UniSTS
Stanford-G3 RH Map112046.0UniSTS
NCBI RH Map11278.2UniSTS
GeneMap99-G3 RH Map112046.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2689
Count of miRNA genes:911
Interacting mature miRNAs:1092
Transcripts:ENST00000343631, ENST00000358681, ENST00000395673, ENST00000525559, ENST00000527014, ENST00000528159, ENST00000529186, ENST00000531161, ENST00000532479, ENST00000533608, ENST00000534048
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2420 2029 1539 453 1277 295 3717 1278 2452 383 1447 1605 171 1204 2149 5
Low 19 962 187 171 674 170 640 919 1282 36 13 8 4 1 639 1 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC134775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE348865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM997250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA738392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U64511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U72263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000343631   ⟹   ENSP00000342656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,096,223 - 44,245,425 (+)Ensembl
RefSeq Acc Id: ENST00000358681   ⟹   ENSP00000351509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,095,717 - 44,244,931 (+)Ensembl
RefSeq Acc Id: ENST00000395673   ⟹   ENSP00000379032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,096,197 - 44,245,429 (+)Ensembl
RefSeq Acc Id: ENST00000525559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,126,903 - 44,171,911 (+)Ensembl
RefSeq Acc Id: ENST00000527014   ⟹   ENSP00000434716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,095,679 - 44,108,049 (+)Ensembl
RefSeq Acc Id: ENST00000528159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,206,865 - 44,244,301 (+)Ensembl
RefSeq Acc Id: ENST00000529186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,108,015 - 44,116,839 (+)Ensembl
RefSeq Acc Id: ENST00000531161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,124,869 - 44,232,450 (+)Ensembl
RefSeq Acc Id: ENST00000532479   ⟹   ENSP00000433827
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,095,673 - 44,107,859 (+)Ensembl
RefSeq Acc Id: ENST00000533608   ⟹   ENSP00000431173
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,095,678 - 44,251,962 (+)Ensembl
RefSeq Acc Id: ENST00000534048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,130,043 - 44,198,120 (+)Ensembl
RefSeq Acc Id: ENST00000682359   ⟹   ENSP00000508226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,095,678 - 44,247,174 (+)Ensembl
RefSeq Acc Id: ENST00000682711   ⟹   ENSP00000506803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,095,829 - 44,247,174 (+)Ensembl
RefSeq Acc Id: ENST00000682815   ⟹   ENSP00000507234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,095,678 - 44,247,174 (+)Ensembl
RefSeq Acc Id: ENST00000682947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,106,629 - 44,247,174 (+)Ensembl
RefSeq Acc Id: ENST00000682993   ⟹   ENSP00000507580
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,095,648 - 44,251,763 (+)Ensembl
RefSeq Acc Id: ENST00000683000   ⟹   ENSP00000508361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,095,665 - 44,247,174 (+)Ensembl
RefSeq Acc Id: ENST00000683204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,204,983 - 44,237,890 (+)Ensembl
RefSeq Acc Id: ENST00000683299
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,107,296 - 44,247,174 (+)Ensembl
RefSeq Acc Id: ENST00000683870   ⟹   ENSP00000507922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,095,724 - 44,247,174 (+)Ensembl
RefSeq Acc Id: ENST00000683881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,104,242 - 44,247,174 (+)Ensembl
RefSeq Acc Id: ENST00000684039   ⟹   ENSP00000507677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,095,678 - 44,247,174 (+)Ensembl
RefSeq Acc Id: ENST00000684124   ⟹   ENSP00000508332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,095,724 - 44,247,174 (+)Ensembl
RefSeq Acc Id: ENST00000684437
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,230,343 - 44,245,413 (+)Ensembl
RefSeq Acc Id: ENST00000684533   ⟹   ENSP00000507915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1144,095,663 - 44,247,174 (+)Ensembl
RefSeq Acc Id: NM_000401   ⟹   NP_000392
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381144,096,197 - 44,245,430 (+)NCBI
GRCh371144,117,099 - 44,266,980 (+)ENTREZGENE
Build 361144,073,675 - 44,223,556 (+)NCBI Archive
HuRef1143,826,189 - 43,975,955 (+)ENTREZGENE
CHM1_11144,116,790 - 44,266,006 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178083   ⟹   NP_001171554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381144,095,678 - 44,251,962 (+)NCBI
GRCh371144,117,099 - 44,266,980 (+)ENTREZGENE
HuRef1143,826,189 - 43,975,955 (+)ENTREZGENE
CHM1_11144,116,142 - 44,266,006 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001389628   ⟹   NP_001376557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381144,096,198 - 44,251,962 (+)NCBI
RefSeq Acc Id: NM_001389630   ⟹   NP_001376559
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381144,095,678 - 44,251,962 (+)NCBI
RefSeq Acc Id: NM_207122   ⟹   NP_997005
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381144,095,678 - 44,251,962 (+)NCBI
GRCh371144,117,099 - 44,266,980 (+)ENTREZGENE
Build 361144,073,675 - 44,223,556 (+)NCBI Archive
HuRef1143,826,189 - 43,975,955 (+)ENTREZGENE
CHM1_11144,116,142 - 44,266,006 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519950   ⟹   XP_011518252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381144,096,238 - 44,245,425 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519951   ⟹   XP_011518253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381144,095,659 - 44,245,425 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448383   ⟹   XP_024304151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381144,096,238 - 44,192,816 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001171554   ⟸   NM_001178083
- Peptide Label: isoform 3
- UniProtKB: Q93063 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_997005   ⟸   NM_207122
- Peptide Label: isoform 2
- UniProtKB: Q93063 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000392   ⟸   NM_000401
- Peptide Label: isoform 1
- UniProtKB: Q93063 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518253   ⟸   XM_011519951
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011518252   ⟸   XM_011519950
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024304151   ⟸   XM_024448383
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000433827   ⟸   ENST00000532479
RefSeq Acc Id: ENSP00000431173   ⟸   ENST00000533608
RefSeq Acc Id: ENSP00000434716   ⟸   ENST00000527014
RefSeq Acc Id: ENSP00000379032   ⟸   ENST00000395673
RefSeq Acc Id: ENSP00000342656   ⟸   ENST00000343631
RefSeq Acc Id: ENSP00000351509   ⟸   ENST00000358681
RefSeq Acc Id: NP_001376559   ⟸   NM_001389630
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001376557   ⟸   NM_001389628
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000507677   ⟸   ENST00000684039
RefSeq Acc Id: ENSP00000507580   ⟸   ENST00000682993
RefSeq Acc Id: ENSP00000508226   ⟸   ENST00000682359
RefSeq Acc Id: ENSP00000506803   ⟸   ENST00000682711
RefSeq Acc Id: ENSP00000507922   ⟸   ENST00000683870
RefSeq Acc Id: ENSP00000507234   ⟸   ENST00000682815
RefSeq Acc Id: ENSP00000508332   ⟸   ENST00000684124
RefSeq Acc Id: ENSP00000508361   ⟸   ENST00000683000
RefSeq Acc Id: ENSP00000507915   ⟸   ENST00000684533
Protein Domains
Exostosin   Glyco_transf_64

Promoters
RGD ID:6788904
Promoter ID:HG_KWN:12681
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_207122,   UC001MXY.1,   UC001MYA.1,   UC009YKT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361144,073,589 - 44,074,089 (+)MPROMDB
RGD ID:7220123
Promoter ID:EPDNEW_H15807
Type:initiation region
Name:EXT2_1
Description:exostosin glycosyltransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15808  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381144,095,678 - 44,095,738EPDNEW
RGD ID:7220125
Promoter ID:EPDNEW_H15808
Type:initiation region
Name:EXT2_2
Description:exostosin glycosyltransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15807  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381144,096,229 - 44,096,289EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000401.3(EXT2):c.528C>A (p.Tyr176Ter) single nucleotide variant Multiple exostoses type 2 [RCV000553165] Chr11:44108141 [GRCh38]
Chr11:44129691 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.1663C>T (p.Arg555Cys) single nucleotide variant Multiple exostoses type 2 [RCV000551058] Chr11:44206861 [GRCh38]
Chr11:44228411 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.454_457del (p.Val154fs) microsatellite Multiple exostoses type 2 [RCV000002575] Chr11:44108162..44108165 [GRCh38]
Chr11:44129712..44129715 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.613C>T (p.Gln205Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000850054]|Multiple exostoses type 2 [RCV000002576]|Multiple exostoses type 2 [RCV000762843]|not provided [RCV000255256] Chr11:44108226 [GRCh38]
Chr11:44129776 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.1404+1G>A single nucleotide variant Multiple exostoses type 2 [RCV000002577] Chr11:44171743 [GRCh38]
Chr11:44193293 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.778G>A (p.Asp260Asn) single nucleotide variant Multiple exostoses type 2 [RCV000002578]|Seizures, scoliosis, and macrocephaly syndrome [RCV000791300]|not provided [RCV001091958] Chr11:44114237 [GRCh38]
Chr11:44135787 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.765C>G (p.Tyr255Ter) single nucleotide variant Multiple exostoses type 2 [RCV000002579] Chr11:44114224 [GRCh38]
Chr11:44135774 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.871C>T (p.Gln291Ter) single nucleotide variant Multiple exostoses type 2 [RCV000002580] Chr11:44124817 [GRCh38]
Chr11:44146367 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.843-2A>C single nucleotide variant Multiple exostoses type 2 [RCV000002581] Chr11:44124787 [GRCh38]
Chr11:44146337 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln) single nucleotide variant Multiple exostoses type 2 [RCV001292607] Chr11:44126850 [GRCh38]
Chr11:44148400 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.1905+9del deletion Multiple exostoses type 2 [RCV000525083] Chr11:44232501 [GRCh38]
Chr11:44254051 [GRCh37]
Chr11:11p11.2
benign
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 copy number loss See cases [RCV000052679] Chr11:35663578..46959820 [GRCh38]
Chr11:35685126..46981371 [GRCh37]
Chr11:35641702..46937947 [NCBI36]
Chr11:11p13-11.2
pathogenic
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1 copy number loss See cases [RCV000052681] Chr11:44136593..46121139 [GRCh38]
Chr11:44158143..46142690 [GRCh37]
Chr11:44114719..46099266 [NCBI36]
Chr11:11p11.2
pathogenic
GRCh38/hg38 11p11.2(chr11:44114130-44171722)x1 copy number loss See cases [RCV000053256] Chr11:44114130..44171722 [GRCh38]
Chr11:44135680..44193272 [GRCh37]
Chr11:44092256..44149848 [NCBI36]
Chr11:11p11.2
likely pathogenic|uncertain significance
GRCh38/hg38 11p11.2(chr11:44197767-44660566)x3 copy number gain See cases [RCV000053618] Chr11:44197767..44660566 [GRCh38]
Chr11:44219317..44682116 [GRCh37]
Chr11:44175893..44638692 [NCBI36]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.2156C>T (p.Thr719Ile) single nucleotide variant Malignant melanoma [RCV000069355] Chr11:44244187 [GRCh38]
Chr11:44265737 [GRCh37]
Chr11:44222313 [NCBI36]
Chr11:11p11.2
not provided
NM_000401.3(EXT2):c.126C>T (p.Ile42=) single nucleotide variant Malignant melanoma [RCV000062211] Chr11:44107739 [GRCh38]
Chr11:44129289 [GRCh37]
Chr11:44085865 [NCBI36]
Chr11:11p11.2
not provided
NM_000401.3(EXT2):c.2034+872C>T single nucleotide variant Lung cancer [RCV000110085] Chr11:44235115 [GRCh38]
Chr11:44256665 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.1118T>A (p.Val373Asp) single nucleotide variant Multiple exostoses type 2 [RCV001104529]|Seizures, scoliosis, and macrocephaly syndrome [RCV000660595] Chr11:44126895 [GRCh38]
Chr11:44148445 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.1811A>G (p.His604Arg) single nucleotide variant not specified [RCV000120876] Chr11:44232402 [GRCh38]
Chr11:44253952 [GRCh37]
Chr11:11p11.2
not provided
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) single nucleotide variant Multiple exostoses type 2 [RCV000988532]|not provided [RCV000725983]|not specified [RCV000120877] Chr11:44232450 [GRCh38]
Chr11:44254000 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) single nucleotide variant Multiple exostoses type 2 [RCV000806392]|Seizures, scoliosis, and macrocephaly syndrome [RCV000660594]|not specified [RCV000120878] Chr11:44234224 [GRCh38]
Chr11:44255774 [GRCh37]
Chr11:11p11.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000401.3(EXT2):c.2152G>A (p.Gly718Arg) single nucleotide variant not specified [RCV000120879] Chr11:44244183 [GRCh38]
Chr11:44265733 [GRCh37]
Chr11:11p11.2
not provided
NM_000401.3(EXT2):c.223A>G (p.Met75Val) single nucleotide variant Multiple exostoses type 2 [RCV001086119]|not provided [RCV000514384]|not specified [RCV000120880] Chr11:44107836 [GRCh38]
Chr11:44129386 [GRCh37]
Chr11:11p11.2
benign|likely benign|not provided
NM_000401.3(EXT2):c.619A>C (p.Met207Leu) single nucleotide variant Multiple exostoses type 2 [RCV001068751]|not specified [RCV000120881] Chr11:44108232 [GRCh38]
Chr11:44129782 [GRCh37]
Chr11:11p11.2
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000401.3(EXT2):c.331C>G (p.Pro111Ala) single nucleotide variant not specified [RCV000120882] Chr11:44107944 [GRCh38]
Chr11:44129494 [GRCh37]
Chr11:11p11.2
not provided
NM_000401.3(EXT2):c.522C>G (p.Asp174Glu) single nucleotide variant not specified [RCV000120883] Chr11:44108135 [GRCh38]
Chr11:44129685 [GRCh37]
Chr11:11p11.2
not provided
NM_000401.3(EXT2):c.359T>G (p.Met120Arg) single nucleotide variant Multiple exostoses type 2 [RCV000988530]|not specified [RCV000120884] Chr11:44107972 [GRCh38]
Chr11:44129522 [GRCh37]
Chr11:11p11.2
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) single nucleotide variant Multiple exostoses type 2 [RCV000988531]|not specified [RCV000120885] Chr11:44114268 [GRCh38]
Chr11:44135818 [GRCh37]
Chr11:11p11.2
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000401.3(EXT2):c.839C>A (p.Pro280Gln) single nucleotide variant not specified [RCV000120886] Chr11:44114298 [GRCh38]
Chr11:44135848 [GRCh37]
Chr11:11p11.2
not provided
NM_000401.3(EXT2):c.995G>A (p.Arg332His) single nucleotide variant Multiple exostoses type 2 [RCV000945936]|not specified [RCV000120887] Chr11:44124941 [GRCh38]
Chr11:44146491 [GRCh37]
Chr11:11p11.2
benign|likely benign|not provided
NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu) single nucleotide variant Multiple exostoses type 2 [RCV000763739]|Multiple exostoses type 2 [RCV000795903]|not provided [RCV000766600]|not specified [RCV000120888] Chr11:44126898 [GRCh38]
Chr11:44148448 [GRCh37]
Chr11:11p11.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000401.3(EXT2):c.1222A>G (p.Ser408Gly) single nucleotide variant Multiple exostoses type 2 [RCV001089229]|not provided [RCV000724066]|not specified [RCV000120889] Chr11:44130088 [GRCh38]
Chr11:44151638 [GRCh37]
Chr11:11p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000401.3(EXT2):c.1209G>T (p.Met403Ile) single nucleotide variant Multiple exostoses type 2 [RCV000878566]|not specified [RCV000120890] Chr11:44130075 [GRCh38]
Chr11:44151625 [GRCh37]
Chr11:11p11.2
benign|likely benign|not provided
NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln) single nucleotide variant Multiple exostoses type 2 [RCV001086749]|Seizures, scoliosis, and macrocephaly syndrome [RCV000785179]|not provided [RCV000728389]|not specified [RCV000120891] Chr11:44171615 [GRCh38]
Chr11:44193165 [GRCh37]
Chr11:11p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000401.3(EXT2):c.1272+14131G>A single nucleotide variant not specified [RCV000120892] Chr11:44144269 [GRCh38]
Chr11:44165819 [GRCh37]
Chr11:11p11.2
not provided
NM_000401.3(EXT2):c.127C>A (p.Arg43=) single nucleotide variant Multiple exostoses type 2 [RCV000549673]|not specified [RCV000176015] Chr11:44107740 [GRCh38]
Chr11:44129290 [GRCh37]
Chr11:11p11.2
benign
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile) single nucleotide variant Multiple exostoses type 2 [RCV001294054] Chr11:44234220 [GRCh38]
Chr11:44255770 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.1179-18T>A single nucleotide variant not specified [RCV000180027] Chr11:44130027 [GRCh38]
Chr11:44151577 [GRCh37]
Chr11:11p11.2
benign
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln) single nucleotide variant Multiple exostoses type 2 [RCV001292629] Chr11:44232375 [GRCh38]
Chr11:44253925 [GRCh37]
Chr11:11p11.2
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_000401.3(EXT2):c.1633G>T (p.Val545Leu) single nucleotide variant Multiple exostoses type 2 [RCV001107946]|not provided [RCV000173928] Chr11:44206831 [GRCh38]
Chr11:44228381 [GRCh37]
Chr11:11p11.2
benign|likely benign|uncertain significance
GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3 copy number gain See cases [RCV000133775] Chr11:40688674..44913409 [GRCh38]
Chr11:40710224..44934960 [GRCh37]
Chr11:40666800..44891536 [NCBI36]
Chr11:11p12-11.2
uncertain significance
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 copy number loss See cases [RCV000135405] Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh38/hg38 11p11.2(chr11:44130090-44206877)x3 copy number gain See cases [RCV000134989] Chr11:44130090..44206877 [GRCh38]
Chr11:44151640..44228427 [GRCh37]
Chr11:44108216..44185003 [NCBI36]
Chr11:11p11.2
likely benign
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 copy number loss See cases [RCV000137391] Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12
pathogenic
GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3 copy number gain See cases [RCV000138110] Chr11:40688674..44184136 [GRCh38]
Chr11:40710224..44205686 [GRCh37]
Chr11:40666800..44162262 [NCBI36]
Chr11:11p12-11.2
likely pathogenic
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 copy number gain See cases [RCV000139422] Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12
likely pathogenic
GRCh38/hg38 11p11.2(chr11:44214049-44234152)x3 copy number gain See cases [RCV000138942] Chr11:44214049..44234152 [GRCh38]
Chr11:44235599..44255702 [GRCh37]
Chr11:44192175..44212278 [NCBI36]
Chr11:11p11.2
uncertain significance
GRCh38/hg38 11p11.2(chr11:44146437-44175772)x3 copy number gain See cases [RCV000139791] Chr11:44146437..44175772 [GRCh38]
Chr11:44167987..44197322 [GRCh37]
Chr11:44124563..44153898 [NCBI36]
Chr11:11p11.2
likely pathogenic
GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1 copy number loss See cases [RCV000142289] Chr11:42553659..46114792 [GRCh38]
Chr11:42575209..46136343 [GRCh37]
Chr11:42531785..46092919 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1 copy number loss See cases [RCV000142439] Chr11:39684826..44845260 [GRCh38]
Chr11:39706376..44866811 [GRCh37]
Chr11:39662952..44823387 [NCBI36]
Chr11:11p12-11.2
pathogenic
NM_000401.3(EXT2):c.383G>A (p.Arg128His) single nucleotide variant Multiple exostoses type 2 [RCV000324486]|not provided [RCV000176016] Chr11:44107996 [GRCh38]
Chr11:44129546 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000401.3(EXT2):c.1036C>T (p.Gln346Ter) single nucleotide variant Multiple exostoses type 2 [RCV000552959]|not provided [RCV000254724] Chr11:44124982 [GRCh38]
Chr11:44146532 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.842+1G>A single nucleotide variant Multiple exostoses type 2 [RCV001211363]|not provided [RCV000254884] Chr11:44114302 [GRCh38]
Chr11:44135852 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.1744C>T (p.Leu582=) single nucleotide variant Multiple exostoses type 2 [RCV001087952]|not provided [RCV000371715] Chr11:44206942 [GRCh38]
Chr11:44228492 [GRCh37]
Chr11:11p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000401.3(EXT2):c.638G>A (p.Trp213Ter) single nucleotide variant not provided [RCV000255455] Chr11:44109196 [GRCh38]
Chr11:44130746 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.*56G>A single nucleotide variant Multiple exostoses type 2 [RCV000359383]|not specified [RCV000246199] Chr11:44244343 [GRCh38]
Chr11:44265893 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000401.3(EXT2):c.2035-41T>C single nucleotide variant not specified [RCV000251858] Chr11:44236252 [GRCh38]
Chr11:44257802 [GRCh37]
Chr11:11p11.2
benign
NM_207122.2(EXT2):c.87_88del (p.Phe30fs) microsatellite not provided [RCV000255786] Chr11:44107797..44107798 [GRCh38]
Chr11:44129347..44129348 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.679G>T (p.Gly227Ter) single nucleotide variant not provided [RCV000255819] Chr11:44109237 [GRCh38]
Chr11:44130787 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.643C>T (p.Arg215Ter) single nucleotide variant Multiple exostoses type 2 [RCV000707279]|not provided [RCV000255822] Chr11:44109201 [GRCh38]
Chr11:44130751 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.1762-566A>G single nucleotide variant not specified [RCV000247500] Chr11:44231787 [GRCh38]
Chr11:44253337 [GRCh37]
Chr11:11p11.2
benign
NM_000401.3(EXT2):c.1762-500G>C single nucleotide variant not specified [RCV000242715] Chr11:44231853 [GRCh38]
Chr11:44253403 [GRCh37]
Chr11:11p11.2
benign
NM_000401.3(EXT2):c.1273-18G>T single nucleotide variant not specified [RCV000243127] Chr11:44171593 [GRCh38]
Chr11:44193143 [GRCh37]
Chr11:11p11.2
benign
NM_000401.3(EXT2):c.1687G>A (p.Glu563Lys) single nucleotide variant Multiple exostoses type 2 [RCV001081789]|not provided [RCV000726040]|not specified [RCV000250542] Chr11:44206885 [GRCh38]
Chr11:44228435 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000011.10:g.(?_44171591)_(44171762_?)del deletion Multiple exostoses type 2 [RCV000551540] Chr11:44171591..44171762 [GRCh38]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.363C>T (p.His121=) single nucleotide variant Multiple exostoses type 2 [RCV000641567]|not specified [RCV000418864] Chr11:44107976 [GRCh38]
Chr11:44129526 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_207122.1(EXT2):c.-307G>T single nucleotide variant Multiple exostoses type 2 [RCV000302488] Chr11:44095576 [GRCh38]
Chr11:44117126 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_000401.3(EXT2):c.1860G>A (p.Thr620=) single nucleotide variant Multiple exostoses type 2 [RCV000641569] Chr11:44232451 [GRCh38]
Chr11:44254001 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_207122.1(EXT2):c.-311G>A single nucleotide variant Multiple exostoses type 2 [RCV000400767] Chr11:44095572 [GRCh38]
Chr11:44117122 [GRCh37]
Chr11:11p11.2
benign
NM_000401.3(EXT2):c.*101G>C single nucleotide variant Multiple exostoses type 2 [RCV000305940] Chr11:44244388 [GRCh38]
Chr11:44265938 [GRCh37]
Chr11:11p11.2
likely benign
NM_000401.3(EXT2):c.304G>A (p.Val102Ile) single nucleotide variant Multiple exostoses type 2 [RCV000273090] Chr11:44107917 [GRCh38]
Chr11:44129467 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.344A>C (p.Asp115Ala) single nucleotide variant Multiple exostoses type 2 [RCV000328182]|not provided [RCV001355388] Chr11:44107957 [GRCh38]
Chr11:44129507 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000401.3(EXT2):c.1905+11G>A single nucleotide variant Multiple exostoses type 2 [RCV000289298] Chr11:44232507 [GRCh38]
Chr11:44254057 [GRCh37]
Chr11:11p11.2
likely benign
NM_000401.3(EXT2):c.*3C>T single nucleotide variant Multiple exostoses type 2 [RCV000309323] Chr11:44244290 [GRCh38]
Chr11:44265840 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_207122.1(EXT2):c.-31+7G>T single nucleotide variant Multiple exostoses type 2 [RCV000356448] Chr11:44095859 [GRCh38]
Chr11:44117409 [GRCh37]
Chr11:11p11.2
benign
NM_000401.3(EXT2):c.1208T>C (p.Met403Thr) single nucleotide variant Multiple exostoses type 2 [RCV000357557] Chr11:44130074 [GRCh38]
Chr11:44151624 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.74G>T (p.Cys25Phe) single nucleotide variant Multiple exostoses type 2 [RCV000261574] Chr11:44107687 [GRCh38]
Chr11:44129237 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.1(EXT2):c.-148G>A single nucleotide variant Multiple exostoses type 2 [RCV000408028] Chr11:44095735 [GRCh38]
Chr11:44117285 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000401.3(EXT2):c.*129C>G single nucleotide variant Multiple exostoses type 2 [RCV000360683] Chr11:44244416 [GRCh38]
Chr11:44265966 [GRCh37]
Chr11:11p11.2
likely benign
NM_000401.3(EXT2):c.*795C>A single nucleotide variant Multiple exostoses type 2 [RCV000276948] Chr11:44245082 [GRCh38]
Chr11:44266632 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_207122.1(EXT2):c.-61C>G single nucleotide variant Multiple exostoses type 2 [RCV000296956] Chr11:44095822 [GRCh38]
Chr11:44117372 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000401.3(EXT2):c.*139C>G single nucleotide variant Multiple exostoses type 2 [RCV000260599] Chr11:44244426 [GRCh38]
Chr11:44265976 [GRCh37]
Chr11:11p11.2
likely benign
NM_000401.3(EXT2):c.1307T>C (p.Ile436Thr) single nucleotide variant Multiple exostoses type 2 [RCV000278607] Chr11:44171645 [GRCh38]
Chr11:44193195 [GRCh37]
Chr11:11p11.2
likely benign
NM_000401.3(EXT2):c.*472C>T single nucleotide variant Multiple exostoses type 2 [RCV000261648] Chr11:44244759 [GRCh38]
Chr11:44266309 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_207122.1(EXT2):c.-197C>G single nucleotide variant Multiple exostoses type 2 [RCV000341020] Chr11:44095686 [GRCh38]
Chr11:44117236 [GRCh37]
Chr11:11p11.2
benign
NM_000401.3(EXT2):c.1116T>C (p.Cys372=) single nucleotide variant Multiple exostoses type 2 [RCV001083101]|not provided [RCV000514143] Chr11:44126893 [GRCh38]
Chr11:44148443 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000401.3(EXT2):c.1064G>A (p.Arg355His) single nucleotide variant Multiple exostoses type 2 [RCV000954702] Chr11:44126841 [GRCh38]
Chr11:44148391 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000401.3(EXT2):c.904C>T (p.Leu302=) single nucleotide variant Multiple exostoses type 2 [RCV000281117] Chr11:44124850 [GRCh38]
Chr11:44146400 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.1186G>A (p.Val396Met) single nucleotide variant Multiple exostoses type 2 [RCV000821752] Chr11:44130052 [GRCh38]
Chr11:44151602 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000401.3(EXT2):c.2034+11C>G single nucleotide variant Multiple exostoses type 2 [RCV000344176] Chr11:44234254 [GRCh38]
Chr11:44255804 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_000401.3(EXT2):c.1017C>T (p.Phe339=) single nucleotide variant Multiple exostoses type 2 [RCV000877863]|not specified [RCV000429150] Chr11:44124963 [GRCh38]
Chr11:44146513 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000401.3(EXT2):c.797A>G (p.Tyr266Cys) single nucleotide variant not provided [RCV000378883] Chr11:44114256 [GRCh38]
Chr11:44135806 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.497_500dup (p.Met168fs) duplication Multiple exostoses type 2 [RCV000527949]|not provided [RCV000300307] Chr11:44108109..44108110 [GRCh38]
Chr11:44129659..44129660 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.110C>T (p.Ser37Leu) single nucleotide variant Multiple exostoses type 2 [RCV000371317]|Seizures, scoliosis, and macrocephaly syndrome [RCV000663343] Chr11:44107723 [GRCh38]
Chr11:44129273 [GRCh37]
Chr11:11p11.2
likely pathogenic|likely benign
NM_000401.3(EXT2):c.1098T>C (p.Asp366=) single nucleotide variant Multiple exostoses type 2 [RCV000861254] Chr11:44126875 [GRCh38]
Chr11:44148425 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000401.3(EXT2):c.948C>T (p.Leu316=) single nucleotide variant Multiple exostoses type 2 [RCV000350276]|not provided [RCV000860850] Chr11:44124894 [GRCh38]
Chr11:44146444 [GRCh37]
Chr11:11p11.2
likely benign
NM_000401.3(EXT2):c.1740C>T (p.Asp580=) single nucleotide variant Multiple exostoses type 2 [RCV000861222] Chr11:44206938 [GRCh38]
Chr11:44228488 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000401.3(EXT2):c.*646C>T single nucleotide variant Multiple exostoses type 2 [RCV000330870] Chr11:44244933 [GRCh38]
Chr11:44266483 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000401.3(EXT2):c.843-10T>G single nucleotide variant Multiple exostoses type 2 [RCV000878638] Chr11:44124779 [GRCh38]
Chr11:44146329 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000401.3(EXT2):c.618G>C (p.Ala206=) single nucleotide variant Multiple exostoses type 2 [RCV000527721] Chr11:44108231 [GRCh38]
Chr11:44129781 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000401.3(EXT2):c.1005_1006dup (p.His336fs) duplication Multiple exostoses type 2 [RCV000542457]|not provided [RCV000347827] Chr11:44124950..44124951 [GRCh38]
Chr11:44146500..44146501 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.*802A>G single nucleotide variant Multiple exostoses type 2 [RCV000333009] Chr11:44245089 [GRCh38]
Chr11:44266639 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000401.3(EXT2):c.107C>T (p.Ala36Val) single nucleotide variant Multiple exostoses type 2 [RCV000312112] Chr11:44107720 [GRCh38]
Chr11:44129270 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.1(EXT2):c.-331T>C single nucleotide variant Multiple exostoses type 2 [RCV000342075] Chr11:44095552 [GRCh38]
Chr11:44117102 [GRCh37]
Chr11:11p11.2
benign
NM_000401.3(EXT2):c.155del (p.Lys52fs) deletion not provided [RCV000489944] Chr11:44107767 [GRCh38]
Chr11:44129317 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.*945G>A single nucleotide variant Multiple exostoses type 2 [RCV000382878] Chr11:44245232 [GRCh38]
Chr11:44266782 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.*731A>G single nucleotide variant Multiple exostoses type 2 [RCV000385286] Chr11:44245018 [GRCh38]
Chr11:44266568 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.*1153A>T single nucleotide variant Multiple exostoses type 2 [RCV000341014] Chr11:44245440 [GRCh38]
Chr11:44266990 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_000401.3(EXT2):c.1390G>A (p.Asp464Asn) single nucleotide variant Multiple exostoses type 2 [RCV000319393] Chr11:44171728 [GRCh38]
Chr11:44193278 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.*368C>T single nucleotide variant Multiple exostoses type 2 [RCV000297029] Chr11:44244655 [GRCh38]
Chr11:44266205 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.959C>A (p.Thr320Asn) single nucleotide variant Multiple exostoses type 2 [RCV000391463] Chr11:44124905 [GRCh38]
Chr11:44146455 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.*93G>A single nucleotide variant Multiple exostoses type 2 [RCV000392578] Chr11:44244380 [GRCh38]
Chr11:44265930 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.*381T>C single nucleotide variant Multiple exostoses type 2 [RCV000356530] Chr11:44244668 [GRCh38]
Chr11:44266218 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.130G>A (p.Gly44Ser) single nucleotide variant Multiple exostoses type 2 [RCV000327205] Chr11:44107743 [GRCh38]
Chr11:44129293 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del) microsatellite Hereditary Multiple Osteochondromatosis [RCV000398317] Chr11:44244161..44244163 [GRCh38]
Chr11:44265711..44265713 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.725+1G>A single nucleotide variant Multiple exostoses type 2 [RCV001062683]|not provided [RCV000599186] Chr11:44109284 [GRCh38]
Chr11:44130834 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.884dup (p.His295fs) duplication not provided [RCV000599420] Chr11:44124829..44124830 [GRCh38]
Chr11:44146379..44146380 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.652_657del (p.Asn218_His219del) deletion Multiple exostoses type 2 [RCV000641562] Chr11:44109210..44109215 [GRCh38]
Chr11:44130760..44130765 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.1231C>T (p.Gln411Ter) single nucleotide variant Multiple exostoses type 2 [RCV000641566] Chr11:44130097 [GRCh38]
Chr11:44151647 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.735G>T (p.Leu245Phe) single nucleotide variant not provided [RCV000732835] Chr11:44114194 [GRCh38]
Chr11:44135744 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.1578T>G (p.Asn526Lys) single nucleotide variant not provided [RCV000522730] Chr11:44198002 [GRCh38]
Chr11:44219552 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2
pathogenic
NM_000401.3(EXT2):c.725+1G>T single nucleotide variant not provided [RCV000443576] Chr11:44109284 [GRCh38]
Chr11:44130834 [GRCh37]
Chr11:11p11.2
likely pathogenic
NM_000401.3(EXT2):c.2254T>G (p.Ter752Gly) single nucleotide variant not provided [RCV000423394] Chr11:44244285 [GRCh38]
Chr11:44265835 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.1122G>A (p.Pro374=) single nucleotide variant Multiple exostoses type 2 [RCV001104530]|not specified [RCV000440276] Chr11:44126899 [GRCh38]
Chr11:44148449 [GRCh37]
Chr11:11p11.2
likely benign
GRCh37/hg19 11p14.1-11.2(chr11:29238811-45494063)x1 copy number loss See cases [RCV000445800] Chr11:29238811..45494063 [GRCh37]
Chr11:11p14.1-11.2
pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12
pathogenic
NM_000401.3(EXT2):c.726-2A>G single nucleotide variant Multiple exostoses type 2 [RCV001204484]|not provided [RCV000484382] Chr11:44114183 [GRCh38]
Chr11:44135733 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.2028del (p.Ile677fs) deletion not provided [RCV000478833] Chr11:44234236 [GRCh38]
Chr11:44255786 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.1120C>A (p.Pro374Thr) single nucleotide variant not provided [RCV000493494] Chr11:44126897 [GRCh38]
Chr11:44148447 [GRCh37]
Chr11:11p11.2
not provided
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000401.3(EXT2):c.344dup (p.Asp115fs) duplication Multiple exostoses type 2 [RCV000793276]|not provided [RCV000524058] Chr11:44107956..44107957 [GRCh38]
Chr11:44129506..44129507 [GRCh37]
Chr11:11p11.2
pathogenic
NC_000011.10:g.(?_44206773)_(44206979_?)del deletion Multiple exostoses type 2 [RCV000557143] Chr11:44206773..44206979 [GRCh38]
Chr11:44228323..44228529 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.343del (p.Asp115fs) deletion Multiple exostoses type 2 [RCV000535208] Chr11:44107951 [GRCh38]
Chr11:44129501 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.1027C>T (p.Gln343Ter) single nucleotide variant Multiple exostoses type 2 [RCV000641563] Chr11:44124973 [GRCh38]
Chr11:44146523 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.1173G>A (p.Trp391Ter) single nucleotide variant Multiple exostoses type 2 [RCV000641565] Chr11:44126950 [GRCh38]
Chr11:44148500 [GRCh37]
Chr11:11p11.2
pathogenic
NC_000011.10:g.(?_44144227)_(44198038_?)del deletion Multiple exostoses type 2 [RCV000641572] Chr11:44144227..44198038 [GRCh38]
Chr11:44165777..44219588 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.1281G>A (p.Trp427Ter) single nucleotide variant not provided [RCV000524064] Chr11:44171619 [GRCh38]
Chr11:44193169 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.507C>T (p.Ala169=) single nucleotide variant not provided [RCV000538398] Chr11:44108120 [GRCh38]
Chr11:44129670 [GRCh37]
Chr11:11p11.2
likely benign
NM_000401.3(EXT2):c.166C>T (p.Arg56Ter) single nucleotide variant Multiple exostoses type 2 [RCV000641564]|not provided [RCV001268416] Chr11:44107779 [GRCh38]
Chr11:44129329 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.1272+2T>A single nucleotide variant Multiple exostoses type 2 [RCV000702149] Chr11:44130140 [GRCh38]
Chr11:44151690 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.1839G>A (p.Trp613Ter) single nucleotide variant Multiple exostoses type 2 [RCV000693656] Chr11:44232430 [GRCh38]
Chr11:44253980 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.769C>T (p.Gln257Ter) single nucleotide variant Multiple exostoses type 2 [RCV000689474]|not provided [RCV001091957] Chr11:44114228 [GRCh38]
Chr11:44135778 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.1178+1G>A single nucleotide variant Multiple exostoses type 2 [RCV000689685] Chr11:44126956 [GRCh38]
Chr11:44148506 [GRCh37]
Chr11:11p11.2
pathogenic
NC_000011.10:g.(?_44107663)_(44130158_?)del deletion Multiple exostoses type 2 [RCV000707784] Chr11:44107663..44130158 [GRCh38]
Chr11:44129213..44151708 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter) single nucleotide variant Multiple exostoses type 2 [RCV000703422]|Multiple exostoses type 2 [RCV000762844]|not provided [RCV001169930] Chr11:44197916 [GRCh38]
Chr11:44219466 [GRCh37]
Chr11:11p11.2
pathogenic|conflicting interpretations of pathogenicity
NM_207122.2(EXT2):c.362_363del (p.Ser121fs) microsatellite Multiple exostoses type 2 [RCV000705945] Chr11:44108071..44108072 [GRCh38]
Chr11:44129621..44129622 [GRCh37]
Chr11:11p11.2
pathogenic
NC_000011.10:g.(?_44206793)_(44206959_?)del deletion Multiple exostoses type 2 [RCV000708420] Chr11:44206793..44206959 [GRCh38]
Chr11:44228343..44228509 [GRCh37]
Chr11:11p11.2
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p11.2(chr11:43769206-44958891)x1 copy number loss not provided [RCV000750024] Chr11:43769206..44958891 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.238del (p.Arg80fs) deletion Multiple exostoses type 2 [RCV000761234] Chr11:44107950 [GRCh38]
Chr11:44129500 [GRCh37]
Chr11:11p11.2
likely pathogenic
NC_000011.10:g.(?_44107663)_(44109303_?)del deletion Multiple exostoses type 2 [RCV001031831] Chr11:44129213..44130853 [GRCh37]
Chr11:11p11.2
pathogenic
NC_000011.10:g.(?_44171591)_(44206979_?)del deletion Multiple exostoses type 2 [RCV001031049] Chr11:44193141..44228529 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1407C>T (p.Leu469=) single nucleotide variant Multiple exostoses type 2 [RCV000883166] Chr11:44197930 [GRCh38]
Chr11:44219480 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.2013G>A (p.Val671=) single nucleotide variant Multiple exostoses type 2 [RCV000972010] Chr11:44236370 [GRCh38]
Chr11:44257920 [GRCh37]
Chr11:11p11.2
likely benign
NM_000401.3(EXT2):c.382C>T (p.Arg128Cys) single nucleotide variant Multiple exostoses type 2 [RCV001056120] Chr11:44107995 [GRCh38]
Chr11:44129545 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.211del (p.Leu71fs) deletion Multiple exostoses type 2 [RCV001058089] Chr11:44107923 [GRCh38]
Chr11:44129473 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter) single nucleotide variant Multiple exostoses type 2 [RCV001069093] Chr11:44171642 [GRCh38]
Chr11:44193192 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn) single nucleotide variant Multiple exostoses type 2 [RCV001055940] Chr11:44124951 [GRCh38]
Chr11:44146501 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1079+1G>T single nucleotide variant Multiple exostoses type 2 [RCV001059095] Chr11:44126956 [GRCh38]
Chr11:44148506 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys) single nucleotide variant Multiple exostoses type 2 [RCV001042921] Chr11:44232416 [GRCh38]
Chr11:44253966 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) single nucleotide variant Multiple exostoses type 2 [RCV001039837]|not provided [RCV001091959] Chr11:44236302 [GRCh38]
Chr11:44257852 [GRCh37]
Chr11:11p11.2
pathogenic|conflicting interpretations of pathogenicity
NM_207122.2(EXT2):c.239G>A (p.Arg80Gln) single nucleotide variant Multiple exostoses type 2 [RCV001054162] Chr11:44107951 [GRCh38]
Chr11:44129501 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1126A>G (p.Ile376Val) single nucleotide variant Multiple exostoses type 2 [RCV000907115] Chr11:44130091 [GRCh38]
Chr11:44151641 [GRCh37]
Chr11:11p11.2
benign
NM_207122.2(EXT2):c.358G>A (p.Val120Ile) single nucleotide variant not provided [RCV000946378] Chr11:44108070 [GRCh38]
Chr11:44129620 [GRCh37]
Chr11:11p11.2
benign
NM_207122.2(EXT2):c.1080-6C>T single nucleotide variant not provided [RCV000896736] Chr11:44130039 [GRCh38]
Chr11:44151589 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.590del (p.Pro197fs) deletion Multiple exostoses type 2 [RCV000814574] Chr11:44109243 [GRCh38]
Chr11:44130793 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1189dup (p.Glu397fs) duplication Multiple exostoses type 2 [RCV000819350] Chr11:44171623..44171624 [GRCh38]
Chr11:44193173..44193174 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.1922A>G (p.Tyr641Cys) single nucleotide variant Seizures, scoliosis, and macrocephaly syndrome [RCV000791304] Chr11:44234131 [GRCh38]
Chr11:44255681 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1627dup (p.Met543fs) duplication Multiple exostoses type 2 [RCV000818168] Chr11:44206923..44206924 [GRCh38]
Chr11:44228473..44228474 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln) single nucleotide variant not provided [RCV000994602] Chr11:44234229 [GRCh38]
Chr11:44255779 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.956_957del (p.Val319fs) microsatellite Multiple exostoses type 2 [RCV000793215] Chr11:44126828..44126829 [GRCh38]
Chr11:44148378..44148379 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.670A>G (p.Met224Val) single nucleotide variant Multiple exostoses type 2 [RCV000791015]|Seizures, scoliosis, and macrocephaly syndrome [RCV000791016] Chr11:44109228 [GRCh38]
Chr11:44130778 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1032del (p.Ile344fs) deletion Multiple exostoses type 2 [RCV000824415] Chr11:44126907 [GRCh38]
Chr11:44148457 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.743+1_743+2dup duplication Multiple exostoses type 2 [RCV001070503]|not provided [RCV000994601] Chr11:44114301..44114302 [GRCh38]
Chr11:44135851..44135852 [GRCh37]
Chr11:11p11.2
pathogenic|uncertain significance
GRCh37/hg19 11p11.2(chr11:43664817-44889240)x3 copy number gain not provided [RCV001006406] Chr11:43664817..44889240 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.1286G>A (p.Trp429Ter) single nucleotide variant Multiple exostoses type 2 [RCV000812182] Chr11:44171624 [GRCh38]
Chr11:44193174 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000401.3(EXT2):c.755C>T (p.Thr252Met) single nucleotide variant Multiple exostoses type 2 [RCV000814766] Chr11:44114214 [GRCh38]
Chr11:44135764 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000401.3(EXT2):c.767G>C (p.Arg256Pro) single nucleotide variant Multiple exostoses type 2 [RCV000804879] Chr11:44114226 [GRCh38]
Chr11:44135776 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.1(EXT2):c.861_1173+5287del deletion Multiple exostoses type 2 [RCV000819585] Chr11:44124906..44135425 [GRCh38]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1180T>G (p.Trp394Gly) single nucleotide variant not provided [RCV000893027] Chr11:44171617 [GRCh38]
Chr11:44193167 [GRCh37]
Chr11:11p11.2
likely benign
NC_000011.10:g.(?_44107663)_(44108268_?)del deletion Multiple exostoses type 2 [RCV001031400] Chr11:44129213..44129818 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.442_455del (p.Asn148fs) deletion not provided [RCV001009047] Chr11:44108154..44108167 [GRCh38]
Chr11:44129704..44129717 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn) single nucleotide variant Multiple exostoses type 2 [RCV001213773] Chr11:44124964 [GRCh38]
Chr11:44146514 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.482del (p.Asn161fs) deletion Multiple exostoses type 2 [RCV001223589] Chr11:44108193 [GRCh38]
Chr11:44129743 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.520A>T (p.Met174Leu) single nucleotide variant Multiple exostoses type 2 [RCV001213904] Chr11:44108232 [GRCh38]
Chr11:44129782 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.203_258del (p.Val68fs) deletion Multiple exostoses type 2 [RCV001220127] Chr11:44107915..44107970 [GRCh38]
Chr11:44129465..44129520 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.536+1G>C single nucleotide variant Multiple exostoses type 2 [RCV001237110] Chr11:44108249 [GRCh38]
Chr11:44129799 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.952_964del (p.Cys318fs) deletion Multiple exostoses type 2 [RCV001237549] Chr11:44126825..44126837 [GRCh38]
Chr11:44148375..44148387 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.261G>A (p.Met87Ile) single nucleotide variant Multiple exostoses type 2 [RCV001227008] Chr11:44107973 [GRCh38]
Chr11:44129523 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter) single nucleotide variant Multiple exostoses type 2 [RCV001209788] Chr11:44108033 [GRCh38]
Chr11:44129583 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser) single nucleotide variant Multiple exostoses type 2 [RCV001242681] Chr11:44109256 [GRCh38]
Chr11:44130806 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter) single nucleotide variant Multiple exostoses type 2 [RCV001204065] Chr11:44126882 [GRCh38]
Chr11:44148432 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer) indel Multiple exostoses type 2 [RCV001215063] Chr11:44107841..44107842 [GRCh38]
Chr11:44129391..44129392 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter) single nucleotide variant Multiple exostoses type 2 [RCV001222254] Chr11:44130109 [GRCh38]
Chr11:44151659 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.151G>A (p.Glu51Lys) single nucleotide variant Multiple exostoses type 2 [RCV001107201] Chr11:44107863 [GRCh38]
Chr11:44129413 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.198G>C (p.Val66=) single nucleotide variant Multiple exostoses type 2 [RCV001107202] Chr11:44107910 [GRCh38]
Chr11:44129460 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.*440A>G single nucleotide variant Multiple exostoses type 2 [RCV001107375] Chr11:44244727 [GRCh38]
Chr11:44266277 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.*672G>C single nucleotide variant Multiple exostoses type 2 [RCV001107376] Chr11:44244959 [GRCh38]
Chr11:44266509 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1005A>G (p.Leu335=) single nucleotide variant Multiple exostoses type 2 [RCV000951557] Chr11:44126881 [GRCh38]
Chr11:44148431 [GRCh37]
Chr11:11p11.2
benign
NM_207122.2(EXT2):c.1527A>G (p.Leu509=) single nucleotide variant Multiple exostoses type 2 [RCV001416139]|not provided [RCV000951679] Chr11:44206824 [GRCh38]
Chr11:44228374 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.1102G>A (p.Glu368Lys) single nucleotide variant not provided [RCV000886010] Chr11:44130067 [GRCh38]
Chr11:44151617 [GRCh37]
Chr11:11p11.2
benign
NM_207122.2(EXT2):c.1587C>T (p.Ile529=) single nucleotide variant not provided [RCV000907382] Chr11:44206884 [GRCh38]
Chr11:44228434 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) single nucleotide variant Multiple exostoses type 2 [RCV000970411]|Seizures, scoliosis, and macrocephaly syndrome [RCV001335666] Chr11:44108094 [GRCh38]
Chr11:44129644 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_207122.2(EXT2):c.1341G>A (p.Pro447=) single nucleotide variant not provided [RCV000951829] Chr11:44197864 [GRCh38]
Chr11:44219414 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys) single nucleotide variant Multiple exostoses type 2 [RCV001049080] Chr11:44124877 [GRCh38]
Chr11:44146427 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.913del (p.Val305fs) deletion Multiple exostoses type 2 [RCV001221863] Chr11:44124957 [GRCh38]
Chr11:44146507 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys) single nucleotide variant Multiple exostoses type 2 [RCV001046576] Chr11:44171714 [GRCh38]
Chr11:44193264 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu) single nucleotide variant Multiple exostoses type 2 [RCV001207463] Chr11:44130130 [GRCh38]
Chr11:44151680 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.744-1G>A single nucleotide variant Multiple exostoses type 2 [RCV001207550] Chr11:44124788 [GRCh38]
Chr11:44146338 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1173G>A (p.Gln391=) single nucleotide variant Seizures, scoliosis, and macrocephaly syndrome [RCV001007887] Chr11:44130138 [GRCh38]
Chr11:44151688 [GRCh37]
Chr11:11p11.2
likely pathogenic
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys) single nucleotide variant Multiple exostoses type 2 [RCV001102610] Chr11:44124940 [GRCh38]
Chr11:44146490 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.*838T>G single nucleotide variant Multiple exostoses type 2 [RCV001108029] Chr11:44245125 [GRCh38]
Chr11:44266675 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) single nucleotide variant Multiple exostoses type 2 [RCV001245592] Chr11:44171614 [GRCh38]
Chr11:44193164 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1150C>T (p.Gln384Ter) single nucleotide variant Multiple exostoses type 2 [RCV001209040] Chr11:44130115 [GRCh38]
Chr11:44151665 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile) single nucleotide variant Multiple exostoses type 2 [RCV001213903] Chr11:44108221 [GRCh38]
Chr11:44129771 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter) single nucleotide variant Multiple exostoses type 2 [RCV001051787] Chr11:44114257 [GRCh38]
Chr11:44135807 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.-45G>T single nucleotide variant Multiple exostoses type 2 [RCV001104445] Chr11:44095838 [GRCh38]
Chr11:44117388 [GRCh37]
Chr11:11p11.2
uncertain significance
NC_000011.10:g.(?_44124769)_(44126975_?)del deletion Multiple exostoses type 2 [RCV001033473] Chr11:44146319..44148525 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs) deletion Multiple exostoses type 2 [RCV001221368] Chr11:44130089..44130090 [GRCh38]
Chr11:44151639..44151640 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr) single nucleotide variant Multiple exostoses type 2 [RCV001197720] Chr11:44108199 [GRCh38]
Chr11:44129749 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.473A>G (p.Asp158Gly) single nucleotide variant Multiple exostoses type 2 [RCV001225535] Chr11:44108185 [GRCh38]
Chr11:44129735 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.423C>T (p.Asp141=) single nucleotide variant Multiple exostoses type 2 [RCV001425199]|not provided [RCV000913795] Chr11:44108135 [GRCh38]
Chr11:44129685 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.2052C>T (p.Phe684=) single nucleotide variant Multiple exostoses type 2 [RCV000890274] Chr11:44244182 [GRCh38]
Chr11:44265732 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.143A>T (p.His48Leu) single nucleotide variant not provided [RCV000890447] Chr11:44107855 [GRCh38]
Chr11:44129405 [GRCh37]
Chr11:11p11.2
benign
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu) single nucleotide variant Multiple exostoses type 2 [RCV001104528] Chr11:44124982 [GRCh38]
Chr11:44146532 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln) single nucleotide variant Multiple exostoses type 2 [RCV001107845] Chr11:44109202 [GRCh38]
Chr11:44130752 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1458T>A (p.Leu486=) single nucleotide variant Multiple exostoses type 2 [RCV001107943] Chr11:44197981 [GRCh38]
Chr11:44219531 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn) single nucleotide variant Multiple exostoses type 2 [RCV001107944] Chr11:44198018 [GRCh38]
Chr11:44219568 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1499C>G (p.Ser500Cys) single nucleotide variant Multiple exostoses type 2 [RCV001107945] Chr11:44206796 [GRCh38]
Chr11:44228346 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1575T>A (p.Pro525=) single nucleotide variant Multiple exostoses type 2 [RCV001107947] Chr11:44206872 [GRCh38]
Chr11:44228422 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln) single nucleotide variant Multiple exostoses type 2 [RCV001102608] Chr11:44124794 [GRCh38]
Chr11:44146344 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.*862T>G single nucleotide variant Multiple exostoses type 2 [RCV001108030] Chr11:44245149 [GRCh38]
Chr11:44266699 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.*882G>T single nucleotide variant Multiple exostoses type 2 [RCV001108031] Chr11:44245169 [GRCh38]
Chr11:44266719 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.782_783del (p.Leu261fs) microsatellite Multiple exostoses type 2 [RCV001175160] Chr11:44124825..44124826 [GRCh38]
Chr11:44146375..44146376 [GRCh37]
Chr11:11p11.2
pathogenic
NC_000011.10:g.(?_44096233)_(44244388_?)del deletion Multiple exostoses type 2 [RCV001033587] Chr11:44117783..44265938 [GRCh37]
Chr11:11p11.2
pathogenic
GRCh37/hg19 11p11.2(chr11:43757860-44118731)x3 copy number gain not provided [RCV001006407] Chr11:43757860..44118731 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.426C>G (p.Tyr142Ter) single nucleotide variant Multiple exostoses type 2 [RCV001034616] Chr11:44108138 [GRCh38]
Chr11:44129688 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.940-2A>G single nucleotide variant Multiple exostoses type 2 [RCV001218603] Chr11:44126814 [GRCh38]
Chr11:44148364 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.257_263del (p.Arg86fs) deletion Multiple exostoses type 2 [RCV001219401] Chr11:44107965..44107971 [GRCh38]
Chr11:44129515..44129521 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter) single nucleotide variant Multiple exostoses type 2 [RCV001041516] Chr11:44124801 [GRCh38]
Chr11:44146351 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1257T>A (p.Tyr419Ter) single nucleotide variant Multiple exostoses type 2 [RCV001208455] Chr11:44171694 [GRCh38]
Chr11:44193244 [GRCh37]
Chr11:11p11.2
pathogenic
NC_000011.10:g.(?_44096233)_(44130158_?)del deletion Multiple exostoses type 2 [RCV001032597] Chr11:44117783..44151708 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.626+2_626+5del deletion Multiple exostoses type 2 [RCV001247830] Chr11:44109282..44109285 [GRCh38]
Chr11:44130832..44130835 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys) single nucleotide variant Multiple exostoses type 2 [RCV001102609] Chr11:44124934 [GRCh38]
Chr11:44146484 [GRCh37]
Chr11:11p11.2
benign
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu) single nucleotide variant Multiple exostoses type 2 [RCV001053665] Chr11:44171637 [GRCh38]
Chr11:44193187 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys) single nucleotide variant Multiple exostoses type 2 [RCV001205454] Chr11:44232430 [GRCh38]
Chr11:44253980 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1169_1170del (p.Arg390fs) microsatellite Multiple exostoses type 2 [RCV001202921] Chr11:44130131..44130132 [GRCh38]
Chr11:44151681..44151682 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly) single nucleotide variant Multiple exostoses type 2 [RCV001237069] Chr11:44124965 [GRCh38]
Chr11:44146515 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.602_603del (p.Thr201fs) microsatellite Multiple exostoses type 2 [RCV001057844] Chr11:44109256..44109257 [GRCh38]
Chr11:44130806..44130807 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.394G>T (p.Glu132Ter) single nucleotide variant Multiple exostoses type 2 [RCV001039923] Chr11:44108106 [GRCh38]
Chr11:44129656 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1016G>A (p.Cys339Tyr) single nucleotide variant Multiple exostoses type 2 [RCV001204896] Chr11:44126892 [GRCh38]
Chr11:44148442 [GRCh37]
Chr11:11p11.2
pathogenic
NC_000011.10:g.44095641G>T single nucleotide variant Multiple exostoses type 2 [RCV001104140] Chr11:44095641 [GRCh38]
Chr11:44117191 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter) single nucleotide variant Multiple exostoses type 2 [RCV001234386] Chr11:44171618 [GRCh38]
Chr11:44193168 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.65A>G (p.His22Arg) single nucleotide variant Multiple exostoses type 2 [RCV001245901] Chr11:44107777 [GRCh38]
Chr11:44129327 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1024del (p.Val342fs) deletion Multiple exostoses type 2 [RCV001216582] Chr11:44126899 [GRCh38]
Chr11:44148449 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.626+2T>G single nucleotide variant Multiple exostoses type 2 [RCV001232930] Chr11:44109285 [GRCh38]
Chr11:44130835 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.459_462del (p.Val154fs) microsatellite Multiple exostoses type 2 [RCV001059704] Chr11:44108167..44108170 [GRCh38]
Chr11:44129717..44129720 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs) microsatellite Multiple exostoses type 2 [RCV001215652]|not provided [RCV001008116] Chr11:44171696..44171697 [GRCh38]
Chr11:44193246..44193247 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1935G>A (p.Lys645=) single nucleotide variant Multiple exostoses type 2 [RCV001102715] Chr11:44234243 [GRCh38]
Chr11:44255793 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.2019-14T>C single nucleotide variant Multiple exostoses type 2 [RCV001102716] Chr11:44244135 [GRCh38]
Chr11:44265685 [GRCh37]
Chr11:11p11.2
benign
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter) single nucleotide variant Multiple exostoses type 2 [RCV001036031] Chr11:44124862 [GRCh38]
Chr11:44146412 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.481_482dup (p.Asn161fs) duplication not provided [RCV001008463] Chr11:44108192..44108193 [GRCh38]
Chr11:44129742..44129743 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.201G>A (p.Pro67=) single nucleotide variant Multiple exostoses type 2 [RCV001107203] Chr11:44107913 [GRCh38]
Chr11:44129463 [GRCh37]
Chr11:11p11.2
benign
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp) single nucleotide variant Multiple exostoses type 2 [RCV001107290] Chr11:44171686 [GRCh38]
Chr11:44193236 [GRCh37]
Chr11:11p11.2
benign
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln) single nucleotide variant Multiple exostoses type 2 [RCV001107291] Chr11:44171687 [GRCh38]
Chr11:44193237 [GRCh37]
Chr11:11p11.2
benign
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln) single nucleotide variant Multiple exostoses type 2 [RCV001107844] Chr11:44108095 [GRCh38]
Chr11:44129645 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity
NM_207122.2(EXT2):c.605C>T (p.Ala202Val) single nucleotide variant Multiple exostoses type 2 [RCV001107846] Chr11:44109262 [GRCh38]
Chr11:44130812 [GRCh37]
Chr11:11p11.2
benign|conflicting interpretations of pathogenicity
NM_207122.2(EXT2):c.960del (p.Leu321fs) deletion Multiple exostoses type 2 [RCV001210746] Chr11:44126835 [GRCh38]
Chr11:44148385 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu) single nucleotide variant Multiple exostoses type 2 [RCV001062573] Chr11:44171696 [GRCh38]
Chr11:44193246 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys) single nucleotide variant Multiple exostoses type 2 [RCV001104446] Chr11:44107762 [GRCh38]
Chr11:44129312 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.*339C>T single nucleotide variant Multiple exostoses type 2 [RCV001104630] Chr11:44244626 [GRCh38]
Chr11:44266176 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del) microsatellite Multiple exostoses type 2 [RCV001039564] Chr11:44109217..44109219 [GRCh38]
Chr11:44130767..44130769 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr) single nucleotide variant Multiple exostoses type 2 [RCV001203279] Chr11:44197895 [GRCh38]
Chr11:44219445 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.314del (p.Lys105fs) deletion Multiple exostoses type 2 [RCV001250997] Chr11:44108025 [GRCh38]
Chr11:44129575 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1179del (p.Trp394fs) deletion Multiple exostoses type 2 [RCV001262418] Chr11:44171615 [GRCh38]
Chr11:44193165 [GRCh37]
Chr11:11p11.2
pathogenic
GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4 copy number gain not provided [RCV001259092] Chr11:44266593..46123796 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh37/hg19 11p12-11.2(chr11:43223479-44266544)x3 copy number gain not provided [RCV001259099] Chr11:43223479..44266544 [GRCh37]
Chr11:11p12-11.2
uncertain significance
NM_207122.2(EXT2):c.1171C>T (p.Gln391Ter) single nucleotide variant Inborn genetic diseases [RCV001267336] Chr11:44130136 [GRCh38]
Chr11:44151686 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser) single nucleotide variant Multiple exostoses type 2 [RCV001263554] Chr11:44124908 [GRCh38]
Chr11:44146458 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu) single nucleotide variant Multiple exostoses type 2 [RCV001263555] Chr11:44126928 [GRCh38]
Chr11:44148478 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.2084G>A (p.Arg695Gln) single nucleotide variant none provided [RCV001285876] Chr11:44244214 [GRCh38]
Chr11:44265764 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1079+1G>C single nucleotide variant Multiple exostoses type 2 [RCV001281102] Chr11:44126956 [GRCh38]
Chr11:44148506 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly) single nucleotide variant Multiple exostoses type 2 [RCV001335665] Chr11:44171663 [GRCh38]
Chr11:44193213 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.2143A>G (p.Ile715Val) single nucleotide variant Multiple exostoses type 2 [RCV001308839] Chr11:44244273 [GRCh38]
Chr11:44265823 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp) single nucleotide variant Multiple exostoses type 2 [RCV001351916] Chr11:44124793 [GRCh38]
Chr11:44146343 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.890G>A (p.Arg297His) single nucleotide variant Multiple exostoses type 2 [RCV001306155] Chr11:44124935 [GRCh38]
Chr11:44146485 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.740C>G (p.Pro247Arg) single nucleotide variant Multiple exostoses type 2 [RCV001343858] Chr11:44114298 [GRCh38]
Chr11:44135848 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.343G>A (p.Val115Met) single nucleotide variant Multiple exostoses type 2 [RCV001372299] Chr11:44108055 [GRCh38]
Chr11:44129605 [GRCh37]
Chr11:11p11.2
uncertain significance
NC_000011.9:g.(?_44146456_44156975del deletion Multiple exostoses type 2 [RCV001383166]   pathogenic
NM_207122.2(EXT2):c.1764T>C (p.Asn588=) single nucleotide variant Multiple exostoses type 2 [RCV001433489] Chr11:44232454 [GRCh38]
Chr11:44254004 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp) single nucleotide variant Multiple exostoses type 2 [RCV001294174] Chr11:44126849 [GRCh38]
Chr11:44148399 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr) single nucleotide variant Multiple exostoses type 2 [RCV001371772] Chr11:44107749 [GRCh38]
Chr11:44129299 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln) single nucleotide variant Multiple exostoses type 2 [RCV001363071] Chr11:44197935 [GRCh38]
Chr11:44219485 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg) single nucleotide variant Multiple exostoses type 2 [RCV001313295] Chr11:44114286 [GRCh38]
Chr11:44135836 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr) single nucleotide variant Multiple exostoses type 2 [RCV001363559] Chr11:44171629 [GRCh38]
Chr11:44193179 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.886G>C (p.Val296Leu) single nucleotide variant Multiple exostoses type 2 [RCV001317258] Chr11:44124931 [GRCh38]
Chr11:44146481 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys) single nucleotide variant Multiple exostoses type 2 [RCV001340253] Chr11:44171724 [GRCh38]
Chr11:44193274 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.308A>C (p.Lys103Thr) single nucleotide variant Multiple exostoses type 2 [RCV001343184] Chr11:44108020 [GRCh38]
Chr11:44129570 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.226C>A (p.Pro76Thr) single nucleotide variant Multiple exostoses type 2 [RCV001318418] Chr11:44107938 [GRCh38]
Chr11:44129488 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1117G>A (p.Val373Met) single nucleotide variant Multiple exostoses type 2 [RCV001318274] Chr11:44130082 [GRCh38]
Chr11:44151632 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.117C>T (p.Ala39=) single nucleotide variant Multiple exostoses type 2 [RCV001413957] Chr11:44107829 [GRCh38]
Chr11:44129379 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp) single nucleotide variant Multiple exostoses type 2 [RCV001305779] Chr11:44107950 [GRCh38]
Chr11:44129500 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg) single nucleotide variant Multiple exostoses type 2 [RCV001365374] Chr11:44130116 [GRCh38]
Chr11:44151666 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp) single nucleotide variant Multiple exostoses type 2 [RCV001304254] Chr11:44206898 [GRCh38]
Chr11:44228448 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu) single nucleotide variant Multiple exostoses type 2 [RCV001315798] Chr11:44244180 [GRCh38]
Chr11:44265730 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_207122.2(EXT2):c.267G>A (p.Thr89=) single nucleotide variant Multiple exostoses type 2 [RCV001418364] Chr11:44107979 [GRCh38]
Chr11:44129529 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.687C>T (p.Ser229=) single nucleotide variant Multiple exostoses type 2 [RCV001432602] Chr11:44114245 [GRCh38]
Chr11:44135795 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.182G>A (p.Arg61His) single nucleotide variant Multiple exostoses type 2 [RCV001417023] Chr11:44107894 [GRCh38]
Chr11:44129444 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.1743G>A (p.Lys581=) single nucleotide variant Multiple exostoses type 2 [RCV001410078] Chr11:44232433 [GRCh38]
Chr11:44253983 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.2136C>T (p.Phe712=) single nucleotide variant Multiple exostoses type 2 [RCV001418834] Chr11:44244266 [GRCh38]
Chr11:44265816 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.306C>T (p.Asn102=) single nucleotide variant Multiple exostoses type 2 [RCV001410712] Chr11:44108018 [GRCh38]
Chr11:44129568 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.1306-7C>G single nucleotide variant Multiple exostoses type 2 [RCV001408272] Chr11:44197822 [GRCh38]
Chr11:44219372 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter) single nucleotide variant Multiple exostoses type 2 [RCV001386700] Chr11:44171671 [GRCh38]
Chr11:44193221 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1287G>A (p.Trp429Ter) single nucleotide variant Multiple exostoses type 2 [RCV001386701] Chr11:44171724 [GRCh38]
Chr11:44193274 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.64_68del (p.His22fs) deletion Multiple exostoses type 2 [RCV001387737] Chr11:44107775..44107779 [GRCh38]
Chr11:44129325..44129329 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1003T>C (p.Leu335=) single nucleotide variant Multiple exostoses type 2 [RCV001428365] Chr11:44126879 [GRCh38]
Chr11:44148429 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter) duplication Multiple exostoses type 2 [RCV001390832] Chr11:44206873..44206874 [GRCh38]
Chr11:44228423..44228424 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.783_784del (p.His262fs) deletion Multiple exostoses type 2 [RCV001390840] Chr11:44124828..44124829 [GRCh38]
Chr11:44146378..44146379 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1495+7dup duplication Multiple exostoses type 2 [RCV001439755] Chr11:44198023..44198024 [GRCh38]
Chr11:44219573..44219574 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.246T>C (p.Asp82=) single nucleotide variant Multiple exostoses type 2 [RCV001442829] Chr11:44107958 [GRCh38]
Chr11:44129508 [GRCh37]
Chr11:11p11.2
likely benign
NM_207122.2(EXT2):c.282T>A (p.Tyr94Ter) single nucleotide variant Multiple exostoses type 2 [RCV001381924] Chr11:44107994 [GRCh38]
Chr11:44129544 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1195del (p.Tyr399fs) deletion Multiple exostoses type 2 [RCV001384121] Chr11:44171632 [GRCh38]
Chr11:44193182 [GRCh37]
Chr11:11p11.2
pathogenic
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile) single nucleotide variant Multiple exostoses type 2 [RCV001418919] Chr11:44206816 [GRCh38]
Chr11:44228366 [GRCh37]
Chr11:11p11.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3513 AgrOrtholog
COSMIC EXT2 COSMIC
Ensembl Genes ENSG00000151348 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000342656 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000351509 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379032 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431173 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000433827 UniProtKB/TrEMBL
  ENSP00000434716 UniProtKB/TrEMBL
  ENSP00000507677 ENTREZGENE
Ensembl Transcript ENST00000343631 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000358681 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395673 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000527014 UniProtKB/TrEMBL
  ENST00000532479 UniProtKB/TrEMBL
  ENST00000533608 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000684039 ENTREZGENE
Gene3D-CATH 3.90.550.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000151348 GTEx
HGNC ID HGNC:3513 ENTREZGENE
Human Proteome Map EXT2 Human Proteome Map
InterPro Exostosin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Exostosin-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Exostosin_GT47 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GT64 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2132 UniProtKB/Swiss-Prot
NCBI Gene 2132 ENTREZGENE
OMIM 133701 OMIM
  608210 OMIM
  616682 OMIM
PANTHER PTHR11062 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11062:SF128 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Exostosin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_transf_64 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27925 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DR24_HUMAN UniProtKB/TrEMBL
  E9PJA5_HUMAN UniProtKB/TrEMBL
  E9PNL9_HUMAN UniProtKB/TrEMBL
  EXT2_HUMAN UniProtKB/Swiss-Prot
  Q6NUL1_HUMAN UniProtKB/TrEMBL
  Q93063 ENTREZGENE
UniProt Secondary B2R5Z6 UniProtKB/Swiss-Prot
  C9JU51 UniProtKB/Swiss-Prot
  J3KPT2 UniProtKB/Swiss-Prot
  O15288 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-03-12 EXT2  exostosin glycosyltransferase 2  EXT2  exostosin 2  Symbol and/or name change 5135510 APPROVED
2011-07-27 EXT2  exostosin 2  EXT2  exostoses (multiple) 2  Symbol and/or name change 5135510 APPROVED