EXTL3 (exostosin like glycosyltransferase 3) - Rat Genome Database

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Gene: EXTL3 (exostosin like glycosyltransferase 3) Homo sapiens
Analyze
Symbol: EXTL3
Name: exostosin like glycosyltransferase 3
RGD ID: 735783
HGNC Page HGNC:3518
Description: Enables glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; magnesium ion binding activity; and protein-hormone receptor activity. Involved in several processes, including negative regulation of inflammatory response to wounding; negative regulation of keratinocyte differentiation; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in Golgi apparatus and endoplasmic reticulum. Is active in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BOTV; DKFZp686C2342; exostoses (multiple)-like 3; exostosin tumor-like 3; exostosin-like 3; exostosin-like glycosyltransferase 3; EXT-related 1; EXT-related protein 1; EXTL1L; EXTR1; glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; hereditary multiple exostoses gene isolog; ISDNA; KIAA0519; multiple exostosis-like protein 3; putative tumor suppressor protein EXTL3; REG; reg receptor; REGR; RPR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38828,607,736 - 28,755,599 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl828,600,469 - 28,756,561 (+)EnsemblGRCh38hg38GRCh38
GRCh37828,559,018 - 28,613,116 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36828,615,072 - 28,667,121 (+)NCBINCBI36Build 36hg18NCBI36
Build 34828,615,071 - 28,667,121NCBI
Celera827,519,006 - 27,571,052 (+)NCBICelera
Cytogenetic Map8p21.1NCBI
HuRef827,104,516 - 27,156,747 (+)NCBIHuRef
CHM1_1828,761,018 - 28,813,245 (+)NCBICHM1_1
T2T-CHM13v2.0828,885,904 - 29,033,822 (+)NCBIT2T-CHM13v2.0
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 facial shape  (IAGP)
Abnormal ilium morphology  (IAGP)
Abnormal limb bone morphology  (IAGP)
Abnormal thorax morphology  (IAGP)
Abnormality of the cervical spine  (IAGP)
Abnormality of the skeletal system  (IAGP)
Abnormally low T cell receptor excision circle level  (IAGP)
Absent speech  (IAGP)
Acetabular dysplasia  (IAGP)
Anal atresia  (IAGP)
Anteverted nares  (IAGP)
Aplasia/hypoplasia involving bones of the extremities  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Blepharitis  (IAGP)
Brachydactyly  (IAGP)
Broad ischia  (IAGP)
Broad metacarpals  (IAGP)
Broad nasal tip  (IAGP)
Broad phalanges of the hand  (IAGP)
Bulbous nose  (IAGP)
Capillary hemangioma  (IAGP)
Cervical cord compression  (IAGP)
Cervical instability  (IAGP)
Cervical spinal canal stenosis  (IAGP)
Chalazion  (IAGP)
Childhood onset  (IAGP)
Clonus  (IAGP)
Cloverleaf skull  (IAGP)
Coarse facial features  (IAGP)
Congenital onset  (IAGP)
Coxa valga  (IAGP)
Coxa vara  (IAGP)
Craniosynostosis  (IAGP)
Death in infancy  (IAGP)
Decreased circulating antibody concentration  (IAGP)
Decreased circulating IgG concentration  (IAGP)
Decreased circulating total IgM  (IAGP)
Decreased lymphocyte proliferation in response to mitogen  (IAGP)
Decreased proportion of CD4-positive helper T cells  (IAGP)
Decreased proportion of CD8-positive T cells  (IAGP)
Deeply set eye  (IAGP)
Delayed ability to sit  (IAGP)
Delayed ossification of carpal bones  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Dislocated radial head  (IAGP)
Disproportionate short stature  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Drooling  (IAGP)
Elbow flexion contracture  (IAGP)
Enlarged metaphyses  (IAGP)
Eosinophilia  (IAGP)
Epiphyseal dysplasia  (IAGP)
Erythroderma  (IAGP)
Failure to thrive  (IAGP)
Fetal distress  (IAGP)
Focal myoclonic seizure  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Generalized hypotonia  (IAGP)
Generalized-onset seizure  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
Hepatic cysts  (IAGP)
Hepatomegaly  (IAGP)
Hip dysplasia  (IAGP)
Horseshoe kidney  (IAGP)
Hypereosinophilia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypoplasia of the capital femoral epiphysis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Increased circulating IgE concentration  (IAGP)
Increased intervertebral space  (IAGP)
Infantile axial hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Juvenile onset  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Laryngotracheal stenosis  (IAGP)
Limb undergrowth  (IAGP)
Limited elbow movement  (IAGP)
Long face  (IAGP)
Long nose  (IAGP)
Long philtrum  (IAGP)
Lower limb muscle weakness  (IAGP)
Lumbar hyperlordosis  (IAGP)
Lymphopenia  (IAGP)
Metaphyseal dysplasia  (IAGP)
Metaphyseal widening  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Mitral valve prolapse  (IAGP)
Motor delay  (IAGP)
Motor stereotypy  (IAGP)
Multiple renal cysts  (IAGP)
Narrow greater sciatic notch  (IAGP)
Narrow mouth  (IAGP)
Neonatal onset  (IAGP)
No social interaction  (IAGP)
Nystagmus  (IAGP)
Open mouth  (IAGP)
Opisthotonus  (IAGP)
Pear-shaped vertebrae  (IAGP)
Pectus excavatum  (IAGP)
Platyspondyly  (IAGP)
Polyhydramnios  (IAGP)
Postaxial foot polydactyly  (IAGP)
Preaxial hand polydactyly  (IAGP)
Progressive microcephaly  (IAGP)
Prominent nose  (IAGP)
Proptosis  (IAGP)
Recurrent infections  (IAGP)
Recurrent pneumonia  (IAGP)
Rigidity  (IAGP)
Sacral dimple  (IAGP)
Scaphocephaly  (IAGP)
Seizure  (IAGP)
Sepsis  (IAGP)
Severe combined immunodeficiency  (IAGP)
Severe global developmental delay  (IAGP)
Severe platyspondyly  (IAGP)
Severe T-cell immunodeficiency  (IAGP)
Short chin  (IAGP)
Short metacarpal  (IAGP)
Short nose  (IAGP)
Short phalanx of finger  (IAGP)
Simple ear  (IAGP)
Single transverse palmar crease  (IAGP)
Specific learning disability  (IAGP)
Spinal cord compression  (IAGP)
T lymphocytopenia  (IAGP)
Thoracic scoliosis  (IAGP)
Thoracolumbar kyphosis  (IAGP)
Trident acetabulum  (IAGP)
Trident hand  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Wide intermamillary distance  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9473480   PMID:9479495   PMID:9628581   PMID:10427123   PMID:10536173   PMID:10639137   PMID:10753861   PMID:11257457   PMID:11390981   PMID:12021770   PMID:12477932   PMID:15489334  
PMID:15580265   PMID:16344560   PMID:17474147   PMID:17761672   PMID:18543267   PMID:19158046   PMID:19653241   PMID:19690583   PMID:20377530   PMID:20936779   PMID:21873635   PMID:22158612  
PMID:22727489   PMID:25429064   PMID:25829497   PMID:26186194   PMID:27375898   PMID:27830702   PMID:28132690   PMID:28148688   PMID:28331220   PMID:28446799   PMID:28514442   PMID:28811323  
PMID:29346724   PMID:29507755   PMID:30833792   PMID:31467315   PMID:32296183   PMID:33845483   PMID:33961781   PMID:34089299   PMID:34099862   PMID:34709727   PMID:35007762   PMID:35676258  
PMID:35696571   PMID:35748872   PMID:35914814   PMID:36181793   PMID:36215168   PMID:36217030   PMID:36240758  


Genomics

Comparative Map Data
EXTL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38828,607,736 - 28,755,599 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl828,600,469 - 28,756,561 (+)EnsemblGRCh38hg38GRCh38
GRCh37828,559,018 - 28,613,116 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36828,615,072 - 28,667,121 (+)NCBINCBI36Build 36hg18NCBI36
Build 34828,615,071 - 28,667,121NCBI
Celera827,519,006 - 27,571,052 (+)NCBICelera
Cytogenetic Map8p21.1NCBI
HuRef827,104,516 - 27,156,747 (+)NCBIHuRef
CHM1_1828,761,018 - 28,813,245 (+)NCBICHM1_1
T2T-CHM13v2.0828,885,904 - 29,033,822 (+)NCBIT2T-CHM13v2.0
Extl3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391465,289,508 - 65,387,322 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1465,289,509 - 65,387,304 (-)EnsemblGRCm39 Ensembl
GRCm381465,052,059 - 65,149,899 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1465,052,060 - 65,149,855 (-)EnsemblGRCm38mm10GRCm38
MGSCv371465,670,896 - 65,716,943 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361464,006,173 - 64,034,585 (-)NCBIMGSCv36mm8
Celera1462,814,500 - 62,860,622 (-)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1433.86NCBI
Extl3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81543,469,293 - 43,559,760 (-)NCBIGRCr8
mRatBN7.21539,294,033 - 39,384,086 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1539,293,605 - 39,338,898 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1541,159,992 - 41,183,433 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01542,310,683 - 42,334,125 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01540,756,090 - 40,779,885 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01548,420,419 - 48,465,171 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1548,422,492 - 48,445,592 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01552,167,241 - 52,307,996 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41544,400,139 - 44,424,584 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11544,415,838 - 44,440,284 (-)NCBI
Celera1538,971,658 - 38,994,995 (-)NCBICelera
Cytogenetic Map15p12NCBI
Extl3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540351,076,319 - 51,102,435 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540351,076,323 - 51,102,435 (+)NCBIChiLan1.0ChiLan1.0
EXTL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2747,141,178 - 47,300,524 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1822,877,190 - 23,013,515 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0827,983,700 - 28,035,879 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1825,079,531 - 25,233,599 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl825,174,414 - 25,233,599 (+)Ensemblpanpan1.1panPan2
EXTL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12528,788,803 - 28,833,964 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2528,790,506 - 28,937,647 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2529,437,368 - 29,587,684 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02528,944,632 - 29,095,861 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2528,944,637 - 29,029,690 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12528,905,043 - 29,055,721 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02528,790,655 - 28,940,548 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02528,953,232 - 29,105,065 (-)NCBIUU_Cfam_GSD_1.0
Extl3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049437,108,930 - 7,137,757 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366751,448,366 - 1,477,216 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366751,448,381 - 1,479,735 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EXTL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1412,437,515 - 12,563,544 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11412,437,551 - 12,563,548 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21413,660,607 - 13,712,760 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EXTL3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1826,729,772 - 26,861,953 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl826,821,141 - 26,864,926 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605215,268,419 - 15,404,953 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Extl3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475823,324,512 - 23,368,584 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475823,257,623 - 23,370,782 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EXTL3
462 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12		 pathogenic
NM_001440.3(EXTL3):c.1362C>T (p.Ala454=) single nucleotide variant Malignant melanoma [RCV000061790] Chr8:28717421 [GRCh38]
Chr8:28574938 [GRCh37]
Chr8:28630857 [NCBI36]
Chr8:8p21.1		 not provided
NM_001440.3(EXTL3):c.1770C>T (p.Leu590=) single nucleotide variant Malignant melanoma [RCV000061791] Chr8:28717829 [GRCh38]
Chr8:28575346 [GRCh37]
Chr8:28631265 [NCBI36]
Chr8:8p21.1		 not provided
NM_001440.4(EXTL3):c.472C>T (p.Arg158Ter) single nucleotide variant Immunoskeletal dysplasia with neurodevelopmental abnormalities [RCV001291787] Chr8:28716531 [GRCh38]
Chr8:28574048 [GRCh37]
Chr8:8p21.1		 likely pathogenic
NM_001440.4(EXTL3):c.1324G>C (p.Val442Leu) single nucleotide variant Immunoskeletal dysplasia with neurodevelopmental abnormalities [RCV002506247]|not provided [RCV000514411] Chr8:28717383 [GRCh38]
Chr8:28574900 [GRCh37]
Chr8:8p21.1		 benign|likely benign
NM_001440.4(EXTL3):c.658G>T (p.Ala220Ser) single nucleotide variant not provided [RCV001303340] Chr8:28716717 [GRCh38]
Chr8:28574234 [GRCh37]
Chr8:8p21.1		 uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 copy number loss See cases [RCV000138081] Chr8:25171103..31750600 [GRCh38]
Chr8:25028618..31608116 [GRCh37]
Chr8:25084535..31727658 [NCBI36]
Chr8:8p21.2-12		 pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
NM_001440.4(EXTL3):c.871G>A (p.Val291Ile) single nucleotide variant Inborn genetic diseases [RCV004037022]|not provided [RCV001367799] Chr8:28716930 [GRCh38]
Chr8:28574447 [GRCh37]
Chr8:8p21.1		 uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12		 pathogenic
NM_001440.4(EXTL3):c.1015C>T (p.Arg339Trp) single nucleotide variant Immunoskeletal dysplasia with neurodevelopmental abnormalities [RCV000477727]|not provided [RCV002525738] Chr8:28717074 [GRCh38]
Chr8:28574591 [GRCh37]
Chr8:8p21.1		 pathogenic|uncertain significance
NM_001440.4(EXTL3):c.1382C>T (p.Pro461Leu) single nucleotide variant Immunoskeletal dysplasia with neurodevelopmental abnormalities [RCV000477674] Chr8:28717441 [GRCh38]
Chr8:28574958 [GRCh37]
Chr8:8p21.1		 pathogenic
NM_001440.4(EXTL3):c.1970A>G (p.Asn657Ser) single nucleotide variant Immunoskeletal dysplasia with neurodevelopmental abnormalities [RCV000477700]|not provided [RCV001865420] Chr8:28718029 [GRCh38]
Chr8:28575546 [GRCh37]
Chr8:8p21.1		 pathogenic|uncertain significance
GRCh37/hg19 8p21.1-12(chr8:27501662-29342607)x3 copy number gain See cases [RCV000510519] Chr8:27501662..29342607 [GRCh37]
Chr8:8p21.1-12		 uncertain significance
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12		 not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001440.4(EXTL3):c.1290C>T (p.Phe430=) single nucleotide variant not provided [RCV000917150] Chr8:28717349 [GRCh38]
Chr8:28574866 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.953C>T (p.Pro318Leu) single nucleotide variant Immunoskeletal dysplasia with neurodevelopmental abnormalities [RCV000761559]|not provided [RCV001592949] Chr8:28717012 [GRCh38]
Chr8:28574529 [GRCh37]
Chr8:8p21.1		 pathogenic|likely pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_001440.4(EXTL3):c.2340C>T (p.Ile780=) single nucleotide variant EXTL3-related disorder [RCV003895504]|not provided [RCV000903425] Chr8:28737582 [GRCh38]
Chr8:28595099 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1437C>T (p.Asn479=) single nucleotide variant not provided [RCV000970999] Chr8:28717496 [GRCh38]
Chr8:28575013 [GRCh37]
Chr8:8p21.1		 benign
NM_001440.4(EXTL3):c.280C>T (p.Leu94=) single nucleotide variant not provided [RCV000880819] Chr8:28716339 [GRCh38]
Chr8:28573856 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1116C>T (p.Pro372=) single nucleotide variant not provided [RCV000904504] Chr8:28717175 [GRCh38]
Chr8:28574692 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2550+10C>T single nucleotide variant not provided [RCV000926378] Chr8:28743224 [GRCh38]
Chr8:28600741 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.591C>T (p.Tyr197=) single nucleotide variant not provided [RCV000914962] Chr8:28716650 [GRCh38]
Chr8:28574167 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.870C>T (p.Asn290=) single nucleotide variant EXTL3-related disorder [RCV003926259]|not provided [RCV000965445] Chr8:28716929 [GRCh38]
Chr8:28574446 [GRCh37]
Chr8:8p21.1		 benign|likely benign
NM_001440.4(EXTL3):c.219G>C (p.Leu73=) single nucleotide variant not provided [RCV000880452] Chr8:28716278 [GRCh38]
Chr8:28573795 [GRCh37]
Chr8:8p21.1		 likely benign
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_001440.4(EXTL3):c.957G>A (p.Leu319=) single nucleotide variant not provided [RCV000972446] Chr8:28717016 [GRCh38]
Chr8:28574533 [GRCh37]
Chr8:8p21.1		 benign|likely benign
NM_001440.4(EXTL3):c.234C>T (p.His78=) single nucleotide variant not provided [RCV000900364] Chr8:28716293 [GRCh38]
Chr8:28573810 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.804G>A (p.Thr268=) single nucleotide variant not provided [RCV000963909] Chr8:28716863 [GRCh38]
Chr8:28574380 [GRCh37]
Chr8:8p21.1		 benign
NM_001440.4(EXTL3):c.2514C>T (p.Phe838=) single nucleotide variant EXTL3-related disorder [RCV003942903]|not provided [RCV000931037] Chr8:28743178 [GRCh38]
Chr8:28600695 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1500C>A (p.Leu500=) single nucleotide variant not provided [RCV000982149] Chr8:28717559 [GRCh38]
Chr8:28575076 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2409C>G (p.Ala803=) single nucleotide variant not provided [RCV000918595] Chr8:28737651 [GRCh38]
Chr8:28595168 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2551-8G>A single nucleotide variant not provided [RCV000895061] Chr8:28750649 [GRCh38]
Chr8:28608166 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.42C>T (p.Asn14=) single nucleotide variant not provided [RCV000915252] Chr8:28716101 [GRCh38]
Chr8:28573618 [GRCh37]
Chr8:8p21.1		 likely benign
GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1 copy number loss not provided [RCV001006090] Chr8:24305969..28673405 [GRCh37]
Chr8:8p21.2-21.1		 pathogenic
NM_001440.4(EXTL3):c.462C>G (p.Ser154=) single nucleotide variant not provided [RCV000937058] Chr8:28716521 [GRCh38]
Chr8:28574038 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.414C>T (p.Thr138=) single nucleotide variant not provided [RCV000937950] Chr8:28716473 [GRCh38]
Chr8:28573990 [GRCh37]
Chr8:8p21.1		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001440.4(EXTL3):c.1769T>G (p.Leu590Arg) single nucleotide variant Inborn genetic diseases [RCV003292873] Chr8:28717828 [GRCh38]
Chr8:28575345 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.342C>T (p.Ile114=) single nucleotide variant not provided [RCV000933505] Chr8:28716401 [GRCh38]
Chr8:28573918 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2610C>T (p.Asp870=) single nucleotide variant not provided [RCV000963646] Chr8:28750716 [GRCh38]
Chr8:28608233 [GRCh37]
Chr8:8p21.1		 benign
NM_001440.4(EXTL3):c.1649C>T (p.Ala550Val) single nucleotide variant not provided [RCV000972774] Chr8:28717708 [GRCh38]
Chr8:28575225 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1132C>T (p.Arg378Trp) single nucleotide variant not provided [RCV000910765] Chr8:28717191 [GRCh38]
Chr8:28574708 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.787C>T (p.Leu263=) single nucleotide variant not provided [RCV000970998] Chr8:28716846 [GRCh38]
Chr8:28574363 [GRCh37]
Chr8:8p21.1		 benign
NM_001440.4(EXTL3):c.1503C>T (p.Ser501=) single nucleotide variant not provided [RCV000930018] Chr8:28717562 [GRCh38]
Chr8:28575079 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.9C>T (p.Gly3=) single nucleotide variant EXTL3-related disorder [RCV003895428]|not provided [RCV000885819] Chr8:28716068 [GRCh38]
Chr8:28573585 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1875A>G (p.Ser625=) single nucleotide variant not provided [RCV000889661] Chr8:28717934 [GRCh38]
Chr8:28575451 [GRCh37]
Chr8:8p21.1		 benign
NM_001440.4(EXTL3):c.2551-8G>C single nucleotide variant not provided [RCV000935813] Chr8:28750649 [GRCh38]
Chr8:28608166 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2136C>T (p.Gly712=) single nucleotide variant not provided [RCV000889662] Chr8:28718195 [GRCh38]
Chr8:28575712 [GRCh37]
Chr8:8p21.1		 benign|likely benign
NM_001440.4(EXTL3):c.1474G>A (p.Glu492Lys) single nucleotide variant not provided [RCV001723376] Chr8:28717533 [GRCh38]
Chr8:28575050 [GRCh37]
Chr8:8p21.1		 uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001440.4(EXTL3):c.22C>T (p.Arg8Trp) single nucleotide variant Immunoskeletal dysplasia with neurodevelopmental abnormalities [RCV001336372]|Inborn genetic diseases [RCV004035810]|not provided [RCV001865846] Chr8:28716081 [GRCh38]
Chr8:28573598 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1040G>A (p.Gly347Asp) single nucleotide variant not provided [RCV001342632] Chr8:28717099 [GRCh38]
Chr8:28574616 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1253G>A (p.Arg418Gln) single nucleotide variant not provided [RCV001363313] Chr8:28717312 [GRCh38]
Chr8:28574829 [GRCh37]
Chr8:8p21.1		 uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
NM_001440.4(EXTL3):c.1582A>C (p.Asn528His) single nucleotide variant Inborn genetic diseases [RCV002544996]|not provided [RCV001306257] Chr8:28717641 [GRCh38]
Chr8:28575158 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1315C>G (p.Pro439Ala) single nucleotide variant not provided [RCV001362148] Chr8:28717374 [GRCh38]
Chr8:28574891 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1667G>A (p.Arg556His) single nucleotide variant not provided [RCV001339760] Chr8:28717726 [GRCh38]
Chr8:28575243 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1843C>G (p.Pro615Ala) single nucleotide variant not provided [RCV001337239] Chr8:28717902 [GRCh38]
Chr8:28575419 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2329G>T (p.Ala777Ser) single nucleotide variant not provided [RCV001366783] Chr8:28737571 [GRCh38]
Chr8:28595088 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1006C>T (p.Pro336Ser) single nucleotide variant not provided [RCV001327093] Chr8:28717065 [GRCh38]
Chr8:28574582 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1679C>T (p.Ala560Val) single nucleotide variant Inborn genetic diseases [RCV004038515]|not provided [RCV001452915] Chr8:28717738 [GRCh38]
Chr8:28575255 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2649C>T (p.Phe883=) single nucleotide variant EXTL3-related disorder [RCV003908808]|not provided [RCV001511510] Chr8:28750755 [GRCh38]
Chr8:28608272 [GRCh37]
Chr8:8p21.1		 benign|likely benign
NM_001440.4(EXTL3):c.473G>A (p.Arg158Gln) single nucleotide variant not provided [RCV001470740] Chr8:28716532 [GRCh38]
Chr8:28574049 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1227G>A (p.Pro409=) single nucleotide variant not provided [RCV001518417] Chr8:28717286 [GRCh38]
Chr8:28574803 [GRCh37]
Chr8:8p21.1		 benign
NM_001440.4(EXTL3):c.1587C>T (p.Thr529=) single nucleotide variant EXTL3-related disorder [RCV003956110]|not provided [RCV001501532] Chr8:28717646 [GRCh38]
Chr8:28575163 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2148+13C>T single nucleotide variant not provided [RCV001512795] Chr8:28718220 [GRCh38]
Chr8:28575737 [GRCh37]
Chr8:8p21.1		 benign
NM_001440.4(EXTL3):c.1983G>A (p.Glu661=) single nucleotide variant not provided [RCV001402068] Chr8:28718042 [GRCh38]
Chr8:28575559 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.958G>C (p.Val320Leu) single nucleotide variant not provided [RCV003108583] Chr8:28717017 [GRCh38]
Chr8:28574534 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1513C>T (p.Leu505Phe) single nucleotide variant not provided [RCV003109174] Chr8:28717572 [GRCh38]
Chr8:28575089 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.171_179dup (p.55DEA[3]) duplication not provided [RCV001907947] Chr8:28716221..28716222 [GRCh38]
Chr8:28573738..28573739 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.743C>T (p.Pro248Leu) single nucleotide variant Inborn genetic diseases [RCV003167320]|not provided [RCV001950032] Chr8:28716802 [GRCh38]
Chr8:28574319 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1465C>T (p.Arg489Cys) single nucleotide variant not provided [RCV001915179] Chr8:28717524 [GRCh38]
Chr8:28575041 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1304C>T (p.Thr435Ile) single nucleotide variant not provided [RCV001874819] Chr8:28717363 [GRCh38]
Chr8:28574880 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.839G>A (p.Arg280His) single nucleotide variant not provided [RCV002042442] Chr8:28716898 [GRCh38]
Chr8:28574415 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.931G>A (p.Gly311Ser) single nucleotide variant not provided [RCV002009230] Chr8:28716990 [GRCh38]
Chr8:28574507 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2401G>A (p.Gly801Ser) single nucleotide variant not provided [RCV002025946] Chr8:28737643 [GRCh38]
Chr8:28595160 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.235G>A (p.Val79Met) single nucleotide variant not provided [RCV001950596] Chr8:28716294 [GRCh38]
Chr8:28573811 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.946G>A (p.Val316Ile) single nucleotide variant Inborn genetic diseases [RCV003167407]|not provided [RCV001948830] Chr8:28717005 [GRCh38]
Chr8:28574522 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1519G>T (p.Ala507Ser) single nucleotide variant Immunoskeletal dysplasia with neurodevelopmental abnormalities [RCV002489985]|Inborn genetic diseases [RCV002547964]|not provided [RCV001864196] Chr8:28717578 [GRCh38]
Chr8:28575095 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.76C>T (p.Arg26Cys) single nucleotide variant Inborn genetic diseases [RCV004039620]|not provided [RCV001863852] Chr8:28716135 [GRCh38]
Chr8:28573652 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.64C>T (p.Arg22Cys) single nucleotide variant not provided [RCV002008985] Chr8:28716123 [GRCh38]
Chr8:28573640 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1805G>A (p.Arg602His) single nucleotide variant Inborn genetic diseases [RCV003348667]|not provided [RCV001987537] Chr8:28717864 [GRCh38]
Chr8:28575381 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1855T>G (p.Phe619Val) single nucleotide variant not provided [RCV002045583] Chr8:28717914 [GRCh38]
Chr8:28575431 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.451C>A (p.Pro151Thr) single nucleotide variant not provided [RCV001966202] Chr8:28716510 [GRCh38]
Chr8:28574027 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1910G>A (p.Arg637Gln) single nucleotide variant not provided [RCV002020610] Chr8:28717969 [GRCh38]
Chr8:28575486 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2719C>T (p.Arg907Cys) single nucleotide variant not provided [RCV001889627] Chr8:28750825 [GRCh38]
Chr8:28608342 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.560G>A (p.Arg187His) single nucleotide variant not provided [RCV001911221] Chr8:28716619 [GRCh38]
Chr8:28574136 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.724G>T (p.Val242Leu) single nucleotide variant not provided [RCV001908348] Chr8:28716783 [GRCh38]
Chr8:28574300 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1669T>G (p.Ser557Ala) single nucleotide variant not provided [RCV001983766] Chr8:28717728 [GRCh38]
Chr8:28575245 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2465G>A (p.Arg822Gln) single nucleotide variant not provided [RCV002004570] Chr8:28743129 [GRCh38]
Chr8:28600646 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.896C>T (p.Ala299Val) single nucleotide variant not provided [RCV001926720] Chr8:28716955 [GRCh38]
Chr8:28574472 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1371C>T (p.Val457=) single nucleotide variant not provided [RCV001890437] Chr8:28717430 [GRCh38]
Chr8:28574947 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.185A>G (p.Lys62Arg) single nucleotide variant not provided [RCV001893667] Chr8:28716244 [GRCh38]
Chr8:28573761 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2276+3G>A single nucleotide variant not provided [RCV001985641] Chr8:28731353 [GRCh38]
Chr8:28588870 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.187C>T (p.Arg63Trp) single nucleotide variant not provided [RCV001912607] Chr8:28716246 [GRCh38]
Chr8:28573763 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.415G>A (p.Glu139Lys) single nucleotide variant not provided [RCV002040420] Chr8:28716474 [GRCh38]
Chr8:28573991 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1978del (p.Arg660fs) deletion not provided [RCV002041750] Chr8:28718034 [GRCh38]
Chr8:28575551 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2573G>A (p.Arg858Gln) single nucleotide variant not provided [RCV002041456] Chr8:28750679 [GRCh38]
Chr8:28608196 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.250C>T (p.Arg84Cys) single nucleotide variant not provided [RCV002043086] Chr8:28716309 [GRCh38]
Chr8:28573826 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2009dup (p.Tyr670Ter) duplication not provided [RCV001927362] Chr8:28718067..28718068 [GRCh38]
Chr8:28575584..28575585 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2277G>T (p.Arg759=) single nucleotide variant Inborn genetic diseases [RCV002563372]|not provided [RCV001949195] Chr8:28737519 [GRCh38]
Chr8:28595036 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.174T>G (p.Asp58Glu) single nucleotide variant Inborn genetic diseases [RCV004041790]|not provided [RCV001912997] Chr8:28716233 [GRCh38]
Chr8:28573750 [GRCh37]
Chr8:8p21.1		 uncertain significance
NC_000008.10:g.(?_27319146)_(28608383_?)dup duplication Autosomal dominant nocturnal frontal lobe epilepsy [RCV003107941]|not provided [RCV002043387] Chr8:27319146..28608383 [GRCh37]
Chr8:8p21.2-21.1		 uncertain significance|no classifications from unflagged records
NM_001440.4(EXTL3):c.269G>A (p.Ser90Asn) single nucleotide variant not provided [RCV002039405] Chr8:28716328 [GRCh38]
Chr8:28573845 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.905C>A (p.Thr302Asn) single nucleotide variant not provided [RCV002039589] Chr8:28716964 [GRCh38]
Chr8:28574481 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1042G>A (p.Glu348Lys) single nucleotide variant not provided [RCV002041699] Chr8:28717101 [GRCh38]
Chr8:28574618 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.25A>G (p.Asn9Asp) single nucleotide variant not provided [RCV001909577] Chr8:28716084 [GRCh38]
Chr8:28573601 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1646C>T (p.Ala549Val) single nucleotide variant not provided [RCV001945646] Chr8:28717705 [GRCh38]
Chr8:28575222 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.115A>T (p.Ile39Phe) single nucleotide variant not provided [RCV001913268] Chr8:28716174 [GRCh38]
Chr8:28573691 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1101G>T (p.Met367Ile) single nucleotide variant not provided [RCV002023483] Chr8:28717160 [GRCh38]
Chr8:28574677 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1745C>T (p.Pro582Leu) single nucleotide variant not provided [RCV001945182] Chr8:28717804 [GRCh38]
Chr8:28575321 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1423A>G (p.Met475Val) single nucleotide variant not provided [RCV001894296] Chr8:28717482 [GRCh38]
Chr8:28574999 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1291G>A (p.Ala431Thr) single nucleotide variant not provided [RCV001957280] Chr8:28717350 [GRCh38]
Chr8:28574867 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1120G>A (p.Asp374Asn) single nucleotide variant not provided [RCV001941224] Chr8:28717179 [GRCh38]
Chr8:28574696 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2112G>C (p.Glu704Asp) single nucleotide variant not provided [RCV002038096] Chr8:28718171 [GRCh38]
Chr8:28575688 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.572C>T (p.Thr191Ile) single nucleotide variant not provided [RCV002048134] Chr8:28716631 [GRCh38]
Chr8:28574148 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.883C>T (p.Arg295Cys) single nucleotide variant not provided [RCV001903515] Chr8:28716942 [GRCh38]
Chr8:28574459 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1279C>G (p.Leu427Val) single nucleotide variant not provided [RCV001924860] Chr8:28717338 [GRCh38]
Chr8:28574855 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.257G>A (p.Arg86Gln) single nucleotide variant Inborn genetic diseases [RCV002545466]|not provided [RCV001999653] Chr8:28716316 [GRCh38]
Chr8:28573833 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.527G>T (p.Gly176Val) single nucleotide variant not provided [RCV002000378] Chr8:28716586 [GRCh38]
Chr8:28574103 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1050dup (p.Glu351Ter) duplication not provided [RCV001981010] Chr8:28717107..28717108 [GRCh38]
Chr8:28574624..28574625 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1367A>T (p.Glu456Val) single nucleotide variant not provided [RCV001974455] Chr8:28717426 [GRCh38]
Chr8:28574943 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1378G>A (p.Val460Ile) single nucleotide variant not provided [RCV001898480] Chr8:28717437 [GRCh38]
Chr8:28574954 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2156G>A (p.Arg719His) single nucleotide variant not provided [RCV001935721] Chr8:28731230 [GRCh38]
Chr8:28588747 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2486T>C (p.Ile829Thr) single nucleotide variant Immunoskeletal dysplasia with neurodevelopmental abnormalities [RCV003224587]|not provided [RCV001942496] Chr8:28743150 [GRCh38]
Chr8:28600667 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1429C>T (p.Gln477Ter) single nucleotide variant not provided [RCV001979824] Chr8:28717488 [GRCh38]
Chr8:28575005 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2546T>C (p.Ile849Thr) single nucleotide variant not provided [RCV002036057] Chr8:28743210 [GRCh38]
Chr8:28600727 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1661_1663del (p.Pro554del) deletion not provided [RCV001998914] Chr8:28717718..28717720 [GRCh38]
Chr8:28575235..28575237 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.668G>A (p.Arg223Gln) single nucleotide variant not provided [RCV001997180] Chr8:28716727 [GRCh38]
Chr8:28574244 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2612C>A (p.Ser871Tyr) single nucleotide variant not provided [RCV002051373] Chr8:28750718 [GRCh38]
Chr8:28608235 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1763G>C (p.Arg588Thr) single nucleotide variant not provided [RCV001923090] Chr8:28717822 [GRCh38]
Chr8:28575339 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.838C>T (p.Arg280Cys) single nucleotide variant Inborn genetic diseases [RCV003264266]|not provided [RCV001952116] Chr8:28716897 [GRCh38]
Chr8:28574414 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1041C>T (p.Gly347=) single nucleotide variant not provided [RCV001990257] Chr8:28717100 [GRCh38]
Chr8:28574617 [GRCh37]
Chr8:8p21.1		 likely benign|uncertain significance
NM_001440.4(EXTL3):c.803C>T (p.Thr268Met) single nucleotide variant not provided [RCV001866375] Chr8:28716862 [GRCh38]
Chr8:28574379 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.293C>G (p.Ala98Gly) single nucleotide variant not provided [RCV002028586] Chr8:28716352 [GRCh38]
Chr8:28573869 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2077G>A (p.Val693Met) single nucleotide variant not provided [RCV002014688] Chr8:28718136 [GRCh38]
Chr8:28575653 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1054T>A (p.Ser352Thr) single nucleotide variant not provided [RCV001935986] Chr8:28717113 [GRCh38]
Chr8:28574630 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1567G>A (p.Ala523Thr) single nucleotide variant not provided [RCV001922017] Chr8:28717626 [GRCh38]
Chr8:28575143 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2014C>G (p.Arg672Gly) single nucleotide variant not provided [RCV001897172] Chr8:28718073 [GRCh38]
Chr8:28575590 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2341C>T (p.Pro781Ser) single nucleotide variant not provided [RCV002047549] Chr8:28737583 [GRCh38]
Chr8:28595100 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.65G>A (p.Arg22His) single nucleotide variant not provided [RCV001995930] Chr8:28716124 [GRCh38]
Chr8:28573641 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1779C>G (p.Phe593Leu) single nucleotide variant not provided [RCV002013747] Chr8:28717838 [GRCh38]
Chr8:28575355 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2533C>T (p.Arg845Trp) single nucleotide variant not provided [RCV001918700] Chr8:28743197 [GRCh38]
Chr8:28600714 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1954G>T (p.Ala652Ser) single nucleotide variant not provided [RCV002030395] Chr8:28718013 [GRCh38]
Chr8:28575530 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2320C>T (p.Arg774Cys) single nucleotide variant not provided [RCV001877241] Chr8:28737562 [GRCh38]
Chr8:28595079 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1999A>G (p.Met667Val) single nucleotide variant not provided [RCV001920063] Chr8:28718058 [GRCh38]
Chr8:28575575 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.79A>G (p.Ile27Val) single nucleotide variant not provided [RCV001989594] Chr8:28716138 [GRCh38]
Chr8:28573655 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2620C>T (p.His874Tyr) single nucleotide variant not provided [RCV002020018] Chr8:28750726 [GRCh38]
Chr8:28608243 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2444A>T (p.Tyr815Phe) single nucleotide variant not provided [RCV002017165] Chr8:28743108 [GRCh38]
Chr8:28600625 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.104C>T (p.Thr35Met) single nucleotide variant not provided [RCV001981840] Chr8:28716163 [GRCh38]
Chr8:28573680 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1466G>T (p.Arg489Leu) single nucleotide variant not provided [RCV001990240] Chr8:28717525 [GRCh38]
Chr8:28575042 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2458G>A (p.Ala820Thr) single nucleotide variant not provided [RCV001977960] Chr8:28743122 [GRCh38]
Chr8:28600639 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1753G>A (p.Ala585Thr) single nucleotide variant not provided [RCV001864959] Chr8:28717812 [GRCh38]
Chr8:28575329 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1477G>T (p.Val493Phe) single nucleotide variant not provided [RCV001885497] Chr8:28717536 [GRCh38]
Chr8:28575053 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1637G>A (p.Arg546Gln) single nucleotide variant not provided [RCV002028992] Chr8:28717696 [GRCh38]
Chr8:28575213 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.878C>G (p.Thr293Ser) single nucleotide variant not provided [RCV002019228] Chr8:28716937 [GRCh38]
Chr8:28574454 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1178A>G (p.Gln393Arg) single nucleotide variant Inborn genetic diseases [RCV003289159]|not provided [RCV001885564] Chr8:28717237 [GRCh38]
Chr8:28574754 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.754C>T (p.Arg252Trp) single nucleotide variant not provided [RCV001900271] Chr8:28716813 [GRCh38]
Chr8:28574330 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.830A>G (p.Asn277Ser) single nucleotide variant Inborn genetic diseases [RCV003250402]|not provided [RCV002010245] Chr8:28716889 [GRCh38]
Chr8:28574406 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.676G>C (p.Val226Leu) single nucleotide variant Inborn genetic diseases [RCV003269067]|not provided [RCV002019375] Chr8:28716735 [GRCh38]
Chr8:28574252 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.921G>T (p.Gln307His) single nucleotide variant not provided [RCV001993551] Chr8:28716980 [GRCh38]
Chr8:28574497 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.720A>G (p.Ile240Met) single nucleotide variant not provided [RCV002051464] Chr8:28716779 [GRCh38]
Chr8:28574296 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1084T>C (p.Ser362Pro) single nucleotide variant not provided [RCV001932319] Chr8:28717143 [GRCh38]
Chr8:28574660 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1196C>T (p.Thr399Ile) single nucleotide variant not provided [RCV001956641] Chr8:28717255 [GRCh38]
Chr8:28574772 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.97A>T (p.Ser33Cys) single nucleotide variant not provided [RCV001904147] Chr8:28716156 [GRCh38]
Chr8:28573673 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2141C>G (p.Pro714Arg) single nucleotide variant not provided [RCV001934366] Chr8:28718200 [GRCh38]
Chr8:28575717 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.565C>A (p.Pro189Thr) single nucleotide variant not provided [RCV001866363] Chr8:28716624 [GRCh38]
Chr8:28574141 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.77G>A (p.Arg26His) single nucleotide variant Inborn genetic diseases [RCV003164098]|not provided [RCV001904257] Chr8:28716136 [GRCh38]
Chr8:28573653 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1504G>A (p.Asp502Asn) single nucleotide variant not provided [RCV002015428] Chr8:28717563 [GRCh38]
Chr8:28575080 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2300G>A (p.Arg767His) single nucleotide variant not provided [RCV002049244] Chr8:28737542 [GRCh38]
Chr8:28595059 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.316G>A (p.Glu106Lys) single nucleotide variant not provided [RCV002016960] Chr8:28716375 [GRCh38]
Chr8:28573892 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.913A>G (p.Thr305Ala) single nucleotide variant Inborn genetic diseases [RCV002560476]|not provided [RCV001957290] Chr8:28716972 [GRCh38]
Chr8:28574489 [GRCh37]
Chr8:8p21.1		 likely benign|uncertain significance
NM_001440.4(EXTL3):c.1031C>T (p.Thr344Ile) single nucleotide variant not provided [RCV001936673] Chr8:28717090 [GRCh38]
Chr8:28574607 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1697A>G (p.Asn566Ser) single nucleotide variant not provided [RCV001899580] Chr8:28717756 [GRCh38]
Chr8:28575273 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2256C>T (p.Asp752=) single nucleotide variant not provided [RCV002090012] Chr8:28731330 [GRCh38]
Chr8:28588847 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2550+13C>T single nucleotide variant not provided [RCV002104463] Chr8:28743227 [GRCh38]
Chr8:28600744 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1458A>G (p.Pro486=) single nucleotide variant not provided [RCV002108441] Chr8:28717517 [GRCh38]
Chr8:28575034 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.201C>G (p.Pro67=) single nucleotide variant not provided [RCV002207087] Chr8:28716260 [GRCh38]
Chr8:28573777 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2148+18A>C single nucleotide variant not provided [RCV002125670] Chr8:28718225 [GRCh38]
Chr8:28575742 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.138C>T (p.Ile46=) single nucleotide variant EXTL3-related disorder [RCV003913685]|not provided [RCV002109539] Chr8:28716197 [GRCh38]
Chr8:28573714 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1158G>A (p.Val386=) single nucleotide variant not provided [RCV002207580] Chr8:28717217 [GRCh38]
Chr8:28574734 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1566T>C (p.Thr522=) single nucleotide variant not provided [RCV002188259] Chr8:28717625 [GRCh38]
Chr8:28575142 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2661C>T (p.Tyr887=) single nucleotide variant not provided [RCV002187478] Chr8:28750767 [GRCh38]
Chr8:28608284 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.36G>A (p.Ala12=) single nucleotide variant EXTL3-related disorder [RCV003913676]|not provided [RCV002112750] Chr8:28716095 [GRCh38]
Chr8:28573612 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.369C>T (p.Asn123=) single nucleotide variant not provided [RCV002073767] Chr8:28716428 [GRCh38]
Chr8:28573945 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.498C>T (p.Ala166=) single nucleotide variant not provided [RCV002105559] Chr8:28716557 [GRCh38]
Chr8:28574074 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.675C>T (p.Asn225=) single nucleotide variant not provided [RCV002147733] Chr8:28716734 [GRCh38]
Chr8:28574251 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.243T>C (p.Asp81=) single nucleotide variant not provided [RCV002191478] Chr8:28716302 [GRCh38]
Chr8:28573819 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1281C>T (p.Leu427=) single nucleotide variant not provided [RCV002126381] Chr8:28717340 [GRCh38]
Chr8:28574857 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2106A>G (p.Pro702=) single nucleotide variant not provided [RCV002207768] Chr8:28718165 [GRCh38]
Chr8:28575682 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1473C>T (p.Thr491=) single nucleotide variant not provided [RCV002124706] Chr8:28717532 [GRCh38]
Chr8:28575049 [GRCh37]
Chr8:8p21.1		 benign
NM_001440.4(EXTL3):c.1449G>A (p.Leu483=) single nucleotide variant not provided [RCV002147884] Chr8:28717508 [GRCh38]
Chr8:28575025 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2394G>T (p.Val798=) single nucleotide variant not provided [RCV002208244] Chr8:28737636 [GRCh38]
Chr8:28595153 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.510C>A (p.Pro170=) single nucleotide variant not provided [RCV002075315] Chr8:28716569 [GRCh38]
Chr8:28574086 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1443G>A (p.Ala481=) single nucleotide variant not provided [RCV002086219] Chr8:28717502 [GRCh38]
Chr8:28575019 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1155G>A (p.Ala385=) single nucleotide variant not provided [RCV002108367] Chr8:28717214 [GRCh38]
Chr8:28574731 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1461G>A (p.Lys487=) single nucleotide variant not provided [RCV002150602] Chr8:28717520 [GRCh38]
Chr8:28575037 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.321C>T (p.Ile107=) single nucleotide variant not provided [RCV002173779] Chr8:28716380 [GRCh38]
Chr8:28573897 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.714C>T (p.Tyr238=) single nucleotide variant not provided [RCV002169088] Chr8:28716773 [GRCh38]
Chr8:28574290 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1392G>T (p.Leu464=) single nucleotide variant not provided [RCV002196775] Chr8:28717451 [GRCh38]
Chr8:28574968 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1119C>T (p.Ala373=) single nucleotide variant not provided [RCV002185279] Chr8:28717178 [GRCh38]
Chr8:28574695 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.592G>A (p.Val198Ile) single nucleotide variant not provided [RCV002134010] Chr8:28716651 [GRCh38]
Chr8:28574168 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2118T>C (p.Leu706=) single nucleotide variant not provided [RCV002076167] Chr8:28718177 [GRCh38]
Chr8:28575694 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.954G>A (p.Pro318=) single nucleotide variant not provided [RCV002150361] Chr8:28717013 [GRCh38]
Chr8:28574530 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.660G>A (p.Ala220=) single nucleotide variant not provided [RCV002211500] Chr8:28716719 [GRCh38]
Chr8:28574236 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1647G>A (p.Ala549=) single nucleotide variant not provided [RCV002167679] Chr8:28717706 [GRCh38]
Chr8:28575223 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.183C>G (p.Gly61=) single nucleotide variant not provided [RCV002210262] Chr8:28716242 [GRCh38]
Chr8:28573759 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.238C>T (p.Leu80=) single nucleotide variant not provided [RCV002079156] Chr8:28716297 [GRCh38]
Chr8:28573814 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1704T>G (p.Ala568=) single nucleotide variant not provided [RCV002133537] Chr8:28717763 [GRCh38]
Chr8:28575280 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.45A>T (p.Gly15=) single nucleotide variant not provided [RCV002196062] Chr8:28716104 [GRCh38]
Chr8:28573621 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2550+11A>G single nucleotide variant not provided [RCV002134107] Chr8:28743225 [GRCh38]
Chr8:28600742 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.474A>T (p.Arg158=) single nucleotide variant not provided [RCV002109375] Chr8:28716533 [GRCh38]
Chr8:28574050 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2277-17C>A single nucleotide variant not provided [RCV002134330] Chr8:28737502 [GRCh38]
Chr8:28595019 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2505C>T (p.Ala835=) single nucleotide variant not provided [RCV002149843] Chr8:28743169 [GRCh38]
Chr8:28600686 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.540C>T (p.His180=) single nucleotide variant not provided [RCV002077637] Chr8:28716599 [GRCh38]
Chr8:28574116 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1752C>T (p.Tyr584=) single nucleotide variant not provided [RCV002088426] Chr8:28717811 [GRCh38]
Chr8:28575328 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1023T>C (p.Tyr341=) single nucleotide variant not provided [RCV002086428] Chr8:28717082 [GRCh38]
Chr8:28574599 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1704T>C (p.Ala568=) single nucleotide variant not provided [RCV002094249] Chr8:28717763 [GRCh38]
Chr8:28575280 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1680G>A (p.Ala560=) single nucleotide variant not provided [RCV002134624] Chr8:28717739 [GRCh38]
Chr8:28575256 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.621C>G (p.Gly207=) single nucleotide variant not provided [RCV002174369] Chr8:28716680 [GRCh38]
Chr8:28574197 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1371C>A (p.Val457=) single nucleotide variant not provided [RCV002115532] Chr8:28717430 [GRCh38]
Chr8:28574947 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.939C>T (p.Asp313=) single nucleotide variant not provided [RCV002166603] Chr8:28716998 [GRCh38]
Chr8:28574515 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.132G>C (p.Pro44=) single nucleotide variant not provided [RCV002149674] Chr8:28716191 [GRCh38]
Chr8:28573708 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.213C>T (p.Asn71=) single nucleotide variant not provided [RCV002114722] Chr8:28716272 [GRCh38]
Chr8:28573789 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1008G>A (p.Pro336=) single nucleotide variant not provided [RCV002213056] Chr8:28717067 [GRCh38]
Chr8:28574584 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2622C>T (p.His874=) single nucleotide variant not provided [RCV002180793] Chr8:28750728 [GRCh38]
Chr8:28608245 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.501C>T (p.Gly167=) single nucleotide variant not provided [RCV002179432] Chr8:28716560 [GRCh38]
Chr8:28574077 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.231G>A (p.Lys77=) single nucleotide variant not provided [RCV002120171] Chr8:28716290 [GRCh38]
Chr8:28573807 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1659C>T (p.Ile553=) single nucleotide variant not provided [RCV002100693] Chr8:28717718 [GRCh38]
Chr8:28575235 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2328C>T (p.His776=) single nucleotide variant not provided [RCV002158723] Chr8:28737570 [GRCh38]
Chr8:28595087 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2277-15C>T single nucleotide variant not provided [RCV002164759] Chr8:28737504 [GRCh38]
Chr8:28595021 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1755C>T (p.Ala585=) single nucleotide variant not provided [RCV002140836] Chr8:28717814 [GRCh38]
Chr8:28575331 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2019G>A (p.Glu673=) single nucleotide variant not provided [RCV002097974] Chr8:28718078 [GRCh38]
Chr8:28575595 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.141C>T (p.Ala47=) single nucleotide variant not provided [RCV002083810] Chr8:28716200 [GRCh38]
Chr8:28573717 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1680G>T (p.Ala560=) single nucleotide variant not provided [RCV002143523] Chr8:28717739 [GRCh38]
Chr8:28575256 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.297G>A (p.Lys99=) single nucleotide variant not provided [RCV002162661] Chr8:28716356 [GRCh38]
Chr8:28573873 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1521T>A (p.Ala507=) single nucleotide variant not provided [RCV002176715] Chr8:28717580 [GRCh38]
Chr8:28575097 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1956A>G (p.Ala652=) single nucleotide variant not provided [RCV002184301] Chr8:28718015 [GRCh38]
Chr8:28575532 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.465G>T (p.Leu155=) single nucleotide variant not provided [RCV002082965] Chr8:28716524 [GRCh38]
Chr8:28574041 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.754C>A (p.Arg252=) single nucleotide variant not provided [RCV002162844] Chr8:28716813 [GRCh38]
Chr8:28574330 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2277-15_2277-3dup duplication Immunoskeletal dysplasia with neurodevelopmental abnormalities [RCV002486967]|not provided [RCV002139103] Chr8:28737501..28737502 [GRCh38]
Chr8:28595018..28595019 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2304C>T (p.Ile768=) single nucleotide variant not provided [RCV002083503] Chr8:28737546 [GRCh38]
Chr8:28595063 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2007T>C (p.Thr669=) single nucleotide variant not provided [RCV002178131] Chr8:28718066 [GRCh38]
Chr8:28575583 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2551-9C>T single nucleotide variant not provided [RCV002120824] Chr8:28750648 [GRCh38]
Chr8:28608165 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.603T>C (p.Ser201=) single nucleotide variant not provided [RCV002143773] Chr8:28716662 [GRCh38]
Chr8:28574179 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.492C>T (p.Asp164=) single nucleotide variant not provided [RCV002201631] Chr8:28716551 [GRCh38]
Chr8:28574068 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2551-17C>G single nucleotide variant not provided [RCV002121663] Chr8:28750640 [GRCh38]
Chr8:28608157 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1377C>T (p.Ala459=) single nucleotide variant not provided [RCV002119996] Chr8:28717436 [GRCh38]
Chr8:28574953 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1626C>T (p.Ala542=) single nucleotide variant not provided [RCV002100641] Chr8:28717685 [GRCh38]
Chr8:28575202 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.945C>T (p.Val315=) single nucleotide variant not provided [RCV002200314] Chr8:28717004 [GRCh38]
Chr8:28574521 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.882C>T (p.Gly294=) single nucleotide variant not provided [RCV002082453] Chr8:28716941 [GRCh38]
Chr8:28574458 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1959G>A (p.Ala653=) single nucleotide variant EXTL3-related disorder [RCV003923440]|not provided [RCV002082579] Chr8:28718018 [GRCh38]
Chr8:28575535 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1125C>T (p.Tyr375=) single nucleotide variant not provided [RCV002101251] Chr8:28717184 [GRCh38]
Chr8:28574701 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.513G>A (p.Pro171=) single nucleotide variant not provided [RCV002163173] Chr8:28716572 [GRCh38]
Chr8:28574089 [GRCh37]
Chr8:8p21.1		 benign
NM_001440.4(EXTL3):c.477G>T (p.Leu159=) single nucleotide variant not provided [RCV002159105] Chr8:28716536 [GRCh38]
Chr8:28574053 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.942G>A (p.Leu314=) single nucleotide variant not provided [RCV002163251] Chr8:28717001 [GRCh38]
Chr8:28574518 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1206C>T (p.Asn402=) single nucleotide variant not provided [RCV002140534] Chr8:28717265 [GRCh38]
Chr8:28574782 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1359A>G (p.Glu453=) single nucleotide variant not provided [RCV003112895] Chr8:28717418 [GRCh38]
Chr8:28574935 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.852A>G (p.Thr284=) single nucleotide variant not provided [RCV003118789] Chr8:28716911 [GRCh38]
Chr8:28574428 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2207A>G (p.Glu736Gly) single nucleotide variant Immunoskeletal dysplasia with neurodevelopmental abnormalities [RCV002496201]|Inborn genetic diseases [RCV003095987]|not provided [RCV002265260] Chr8:28731281 [GRCh38]
Chr8:28588798 [GRCh37]
Chr8:8p21.1		 uncertain significance
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1 copy number loss not provided [RCV002472596] Chr8:26808969..38346383 [GRCh37]
Chr8:8p21.2-11.22		 pathogenic
NM_001440.4(EXTL3):c.774G>A (p.Lys258=) single nucleotide variant not provided [RCV002614128] Chr8:28716833 [GRCh38]
Chr8:28574350 [GRCh37]
Chr8:8p21.1		 likely benign
GRCh37/hg19 8p21.2-12(chr8:27064033-28832392)x3 copy number gain not provided [RCV002472907] Chr8:27064033..28832392 [GRCh37]
Chr8:8p21.2-12		 uncertain significance
NM_001440.4(EXTL3):c.361A>G (p.Ile121Val) single nucleotide variant not provided [RCV002299133] Chr8:28716420 [GRCh38]
Chr8:28573937 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2305G>C (p.Val769Leu) single nucleotide variant not provided [RCV002295803] Chr8:28737547 [GRCh38]
Chr8:28595064 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1609C>T (p.Arg537Cys) single nucleotide variant not provided [RCV002295520] Chr8:28717668 [GRCh38]
Chr8:28575185 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1537C>G (p.Arg513Gly) single nucleotide variant not provided [RCV002303180] Chr8:28717596 [GRCh38]
Chr8:28575113 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1154C>T (p.Ala385Val) single nucleotide variant Inborn genetic diseases [RCV002775513]|not provided [RCV002800263] Chr8:28717213 [GRCh38]
Chr8:28574730 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2293C>T (p.Arg765Trp) single nucleotide variant not provided [RCV002771311] Chr8:28737535 [GRCh38]
Chr8:28595052 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.153C>T (p.Leu51=) single nucleotide variant not provided [RCV003016700] Chr8:28716212 [GRCh38]
Chr8:28573729 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.676G>A (p.Val226Ile) single nucleotide variant not provided [RCV002756690] Chr8:28716735 [GRCh38]
Chr8:28574252 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1905C>T (p.Gly635=) single nucleotide variant not provided [RCV002947282] Chr8:28717964 [GRCh38]
Chr8:28575481 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1678G>T (p.Ala560Ser) single nucleotide variant not provided [RCV002614987] Chr8:28717737 [GRCh38]
Chr8:28575254 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1450G>T (p.Val484Leu) single nucleotide variant Inborn genetic diseases [RCV002793612] Chr8:28717509 [GRCh38]
Chr8:28575026 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1062G>A (p.Arg354=) single nucleotide variant not provided [RCV002681353] Chr8:28717121 [GRCh38]
Chr8:28574638 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.348C>G (p.Ala116=) single nucleotide variant not provided [RCV002881440] Chr8:28716407 [GRCh38]
Chr8:28573924 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.744G>A (p.Pro248=) single nucleotide variant not provided [RCV002996139] Chr8:28716803 [GRCh38]
Chr8:28574320 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.523C>T (p.Arg175Trp) single nucleotide variant Inborn genetic diseases [RCV002616871]|not provided [RCV002616870] Chr8:28716582 [GRCh38]
Chr8:28574099 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.868_885del (p.Asn290_Arg295del) deletion not provided [RCV002815840] Chr8:28716926..28716943 [GRCh38]
Chr8:28574443..28574460 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.6dup (p.Gly3fs) duplication not provided [RCV002617145] Chr8:28716064..28716065 [GRCh38]
Chr8:28573581..28573582 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2422-5G>A single nucleotide variant not provided [RCV002881782] Chr8:28743081 [GRCh38]
Chr8:28600598 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1811G>A (p.Trp604Ter) single nucleotide variant not provided [RCV002858646] Chr8:28717870 [GRCh38]
Chr8:28575387 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.800G>A (p.Arg267Gln) single nucleotide variant not provided [RCV003095827] Chr8:28716859 [GRCh38]
Chr8:28574376 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.497C>T (p.Ala166Val) single nucleotide variant not provided [RCV002617774] Chr8:28716556 [GRCh38]
Chr8:28574073 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.682G>A (p.Val228Ile) single nucleotide variant not provided [RCV002726981] Chr8:28716741 [GRCh38]
Chr8:28574258 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.990A>G (p.Glu330=) single nucleotide variant not provided [RCV003098926] Chr8:28717049 [GRCh38]
Chr8:28574566 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2591A>T (p.Gln864Leu) single nucleotide variant not provided [RCV002996728] Chr8:28750697 [GRCh38]
Chr8:28608214 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2277-12G>A single nucleotide variant not provided [RCV002755320] Chr8:28737507 [GRCh38]
Chr8:28595024 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.251G>A (p.Arg84His) single nucleotide variant Inborn genetic diseases [RCV002778457] Chr8:28716310 [GRCh38]
Chr8:28573827 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.514A>C (p.Lys172Gln) single nucleotide variant not provided [RCV003017150] Chr8:28716573 [GRCh38]
Chr8:28574090 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.585G>A (p.Pro195=) single nucleotide variant not provided [RCV002690154] Chr8:28716644 [GRCh38]
Chr8:28574161 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1915A>G (p.Ile639Val) single nucleotide variant Inborn genetic diseases [RCV002708263] Chr8:28717974 [GRCh38]
Chr8:28575491 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2265G>A (p.Met755Ile) single nucleotide variant not provided [RCV002659293] Chr8:28731339 [GRCh38]
Chr8:28588856 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.333T>C (p.Asn111=) single nucleotide variant not provided [RCV002871591] Chr8:28716392 [GRCh38]
Chr8:28573909 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.451C>T (p.Pro151Ser) single nucleotide variant not provided [RCV002706519] Chr8:28716510 [GRCh38]
Chr8:28574027 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.35C>T (p.Ala12Val) single nucleotide variant not provided [RCV002786038] Chr8:28716094 [GRCh38]
Chr8:28573611 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.216G>A (p.Glu72=) single nucleotide variant not provided [RCV002889426] Chr8:28716275 [GRCh38]
Chr8:28573792 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1431G>A (p.Gln477=) single nucleotide variant not provided [RCV002662659] Chr8:28717490 [GRCh38]
Chr8:28575007 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1762A>G (p.Arg588Gly) single nucleotide variant not provided [RCV003022118] Chr8:28717821 [GRCh38]
Chr8:28575338 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1318C>T (p.Arg440Cys) single nucleotide variant not provided [RCV002735926] Chr8:28717377 [GRCh38]
Chr8:28574894 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.546C>G (p.Cys182Trp) single nucleotide variant Inborn genetic diseases [RCV002924889] Chr8:28716605 [GRCh38]
Chr8:28574122 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.82C>T (p.Arg28Cys) single nucleotide variant Inborn genetic diseases [RCV003080000]|not provided [RCV003079999] Chr8:28716141 [GRCh38]
Chr8:28573658 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1239A>C (p.Ala413=) single nucleotide variant not provided [RCV003020602] Chr8:28717298 [GRCh38]
Chr8:28574815 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1108G>A (p.Asp370Asn) single nucleotide variant Inborn genetic diseases [RCV002978553] Chr8:28717167 [GRCh38]
Chr8:28574684 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1361C>G (p.Ala454Gly) single nucleotide variant Inborn genetic diseases [RCV002844982] Chr8:28717420 [GRCh38]
Chr8:28574937 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1539C>T (p.Arg513=) single nucleotide variant not provided [RCV003079958] Chr8:28717598 [GRCh38]
Chr8:28575115 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2307G>T (p.Val769=) single nucleotide variant not provided [RCV002796204] Chr8:28737549 [GRCh38]
Chr8:28595066 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2406T>C (p.Ala802=) single nucleotide variant not provided [RCV002866541] Chr8:28737648 [GRCh38]
Chr8:28595165 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.223G>A (p.Glu75Lys) single nucleotide variant not provided [RCV002736376] Chr8:28716282 [GRCh38]
Chr8:28573799 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.733A>T (p.Met245Leu) single nucleotide variant not provided [RCV002846202] Chr8:28716792 [GRCh38]
Chr8:28574309 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.18G>A (p.Met6Ile) single nucleotide variant not provided [RCV002820997] Chr8:28716077 [GRCh38]
Chr8:28573594 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1201A>G (p.Lys401Glu) single nucleotide variant not provided [RCV002909295] Chr8:28717260 [GRCh38]
Chr8:28574777 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2545A>G (p.Ile849Val) single nucleotide variant not provided [RCV003036717] Chr8:28743209 [GRCh38]
Chr8:28600726 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.114C>T (p.Val38=) single nucleotide variant not provided [RCV002785341] Chr8:28716173 [GRCh38]
Chr8:28573690 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1573A>G (p.Ser525Gly) single nucleotide variant not provided [RCV002621796] Chr8:28717632 [GRCh38]
Chr8:28575149 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.189G>A (p.Arg63=) single nucleotide variant not provided [RCV002867409] Chr8:28716248 [GRCh38]
Chr8:28573765 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2422-7C>T single nucleotide variant not provided [RCV003079959] Chr8:28743079 [GRCh38]
Chr8:28600596 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1056T>C (p.Ser352=) single nucleotide variant not provided [RCV002948646] Chr8:28717115 [GRCh38]
Chr8:28574632 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1304C>A (p.Thr435Asn) single nucleotide variant Inborn genetic diseases [RCV002798123] Chr8:28717363 [GRCh38]
Chr8:28574880 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.476T>C (p.Leu159Pro) single nucleotide variant not provided [RCV003053492] Chr8:28716535 [GRCh38]
Chr8:28574052 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2511C>T (p.Asn837=) single nucleotide variant not provided [RCV002620603] Chr8:28743175 [GRCh38]
Chr8:28600692 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1253G>T (p.Arg418Leu) single nucleotide variant Inborn genetic diseases [RCV002868823] Chr8:28717312 [GRCh38]
Chr8:28574829 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1243T>G (p.Cys415Gly) single nucleotide variant not provided [RCV003019647] Chr8:28717302 [GRCh38]
Chr8:28574819 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.206T>C (p.Val69Ala) single nucleotide variant not provided [RCV002620010] Chr8:28716265 [GRCh38]
Chr8:28573782 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1866G>A (p.Val622=) single nucleotide variant not provided [RCV002695656] Chr8:28717925 [GRCh38]
Chr8:28575442 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.928C>A (p.Pro310Thr) single nucleotide variant not provided [RCV002847475] Chr8:28716987 [GRCh38]
Chr8:28574504 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.924C>T (p.Tyr308=) single nucleotide variant not provided [RCV002760957] Chr8:28716983 [GRCh38]
Chr8:28574500 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1405C>A (p.Gln469Lys) single nucleotide variant not provided [RCV002705451] Chr8:28717464 [GRCh38]
Chr8:28574981 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1007C>T (p.Pro336Leu) single nucleotide variant not provided [RCV002735088] Chr8:28717066 [GRCh38]
Chr8:28574583 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1636C>T (p.Arg546Trp) single nucleotide variant not provided [RCV002711248] Chr8:28717695 [GRCh38]
Chr8:28575212 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1535G>C (p.Gly512Ala) single nucleotide variant not provided [RCV002701312] Chr8:28717594 [GRCh38]
Chr8:28575111 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1383G>A (p.Pro461=) single nucleotide variant not provided [RCV002805317] Chr8:28717442 [GRCh38]
Chr8:28574959 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2544C>T (p.Pro848=) single nucleotide variant not provided [RCV002745699] Chr8:28743208 [GRCh38]
Chr8:28600725 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1415A>G (p.Tyr472Cys) single nucleotide variant not provided [RCV002645771] Chr8:28717474 [GRCh38]
Chr8:28574991 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1275G>A (p.Leu425=) single nucleotide variant not provided [RCV003025760] Chr8:28717334 [GRCh38]
Chr8:28574851 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1747C>T (p.Pro583Ser) single nucleotide variant Inborn genetic diseases [RCV002577813]|not provided [RCV002574338] Chr8:28717806 [GRCh38]
Chr8:28575323 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1554T>G (p.Thr518=) single nucleotide variant not provided [RCV003007941] Chr8:28717613 [GRCh38]
Chr8:28575130 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.499G>A (p.Gly167Ser) single nucleotide variant not provided [RCV002596587] Chr8:28716558 [GRCh38]
Chr8:28574075 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1768C>T (p.Leu590Phe) single nucleotide variant not provided [RCV002982872] Chr8:28717827 [GRCh38]
Chr8:28575344 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1181T>G (p.Val394Gly) single nucleotide variant not provided [RCV002643132] Chr8:28717240 [GRCh38]
Chr8:28574757 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1739C>T (p.Thr580Met) single nucleotide variant not provided [RCV002642366] Chr8:28717798 [GRCh38]
Chr8:28575315 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2149-4A>G single nucleotide variant not provided [RCV002700408] Chr8:28731219 [GRCh38]
Chr8:28588736 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2211A>T (p.Thr737=) single nucleotide variant not provided [RCV002745502] Chr8:28731285 [GRCh38]
Chr8:28588802 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2529C>T (p.Ile843=) single nucleotide variant not provided [RCV003056419] Chr8:28743193 [GRCh38]
Chr8:28600710 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1943A>G (p.Lys648Arg) single nucleotide variant not provided [RCV002663557] Chr8:28718002 [GRCh38]
Chr8:28575519 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1082G>A (p.Arg361His) single nucleotide variant not provided [RCV003056024] Chr8:28717141 [GRCh38]
Chr8:28574658 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1219A>G (p.Ser407Gly) single nucleotide variant not provided [RCV003057789] Chr8:28717278 [GRCh38]
Chr8:28574795 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2751G>A (p.Lys917=) single nucleotide variant not provided [RCV002852886] Chr8:28750857 [GRCh38]
Chr8:28608374 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1299C>T (p.Ile433=) single nucleotide variant not provided [RCV002667219] Chr8:28717358 [GRCh38]
Chr8:28574875 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.33C>T (p.Gly11=) single nucleotide variant not provided [RCV002928385] Chr8:28716092 [GRCh38]
Chr8:28573609 [GRCh37]
Chr8:8p21.1		 benign
NM_001440.4(EXTL3):c.2331A>G (p.Ala777=) single nucleotide variant not provided [RCV002596349] Chr8:28737573 [GRCh38]
Chr8:28595090 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2605G>C (p.Asp869His) single nucleotide variant not provided [RCV002575079] Chr8:28750711 [GRCh38]
Chr8:28608228 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.792A>G (p.Pro264=) single nucleotide variant not provided [RCV003056157] Chr8:28716851 [GRCh38]
Chr8:28574368 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.866A>G (p.Tyr289Cys) single nucleotide variant not provided [RCV003085105] Chr8:28716925 [GRCh38]
Chr8:28574442 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.697G>T (p.Asp233Tyr) single nucleotide variant not provided [RCV002572626] Chr8:28716756 [GRCh38]
Chr8:28574273 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1073A>T (p.Gln358Leu) single nucleotide variant Inborn genetic diseases [RCV004073261]|not provided [RCV003085143] Chr8:28717132 [GRCh38]
Chr8:28574649 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1442C>T (p.Ala481Val) single nucleotide variant not provided [RCV002596609] Chr8:28717501 [GRCh38]
Chr8:28575018 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1538G>A (p.Arg513His) single nucleotide variant Inborn genetic diseases [RCV002955159] Chr8:28717597 [GRCh38]
Chr8:28575114 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2263A>G (p.Met755Val) single nucleotide variant not provided [RCV002801093] Chr8:28731337 [GRCh38]
Chr8:28588854 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2631C>T (p.His877=) single nucleotide variant not provided [RCV003059136] Chr8:28750737 [GRCh38]
Chr8:28608254 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2422-15T>C single nucleotide variant not provided [RCV002721061] Chr8:28743071 [GRCh38]
Chr8:28600588 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1667G>T (p.Arg556Leu) single nucleotide variant not provided [RCV002967022] Chr8:28717726 [GRCh38]
Chr8:28575243 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1699A>G (p.Met567Val) single nucleotide variant not provided [RCV002715426] Chr8:28717758 [GRCh38]
Chr8:28575275 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.963T>C (p.His321=) single nucleotide variant not provided [RCV003091987] Chr8:28717022 [GRCh38]
Chr8:28574539 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.132_133insAAG (p.Pro44_Leu45insLys) insertion not provided [RCV002937591] Chr8:28716190..28716191 [GRCh38]
Chr8:28573707..28573708 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.82C>G (p.Arg28Gly) single nucleotide variant not provided [RCV003030689] Chr8:28716141 [GRCh38]
Chr8:28573658 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1421A>G (p.Asp474Gly) single nucleotide variant not provided [RCV002581283] Chr8:28717480 [GRCh38]
Chr8:28574997 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1726G>T (p.Gly576Trp) single nucleotide variant not provided [RCV003064132] Chr8:28717785 [GRCh38]
Chr8:28575302 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.437T>C (p.Met146Thr) single nucleotide variant not provided [RCV003046608] Chr8:28716496 [GRCh38]
Chr8:28574013 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.667C>T (p.Arg223Ter) single nucleotide variant not provided [RCV002720437] Chr8:28716726 [GRCh38]
Chr8:28574243 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2035T>G (p.Ser679Ala) single nucleotide variant Inborn genetic diseases [RCV002812796] Chr8:28718094 [GRCh38]
Chr8:28575611 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2506A>G (p.Met836Val) single nucleotide variant not provided [RCV003008468] Chr8:28743170 [GRCh38]
Chr8:28600687 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1695C>T (p.Pro565=) single nucleotide variant not provided [RCV002576751] Chr8:28717754 [GRCh38]
Chr8:28575271 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1581T>C (p.Phe527=) single nucleotide variant not provided [RCV003010135] Chr8:28717640 [GRCh38]
Chr8:28575157 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2518G>A (p.Val840Ile) single nucleotide variant Inborn genetic diseases [RCV002809518] Chr8:28743182 [GRCh38]
Chr8:28600699 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.393C>G (p.Leu131=) single nucleotide variant not provided [RCV002577145] Chr8:28716452 [GRCh38]
Chr8:28573969 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2313C>T (p.Phe771=) single nucleotide variant not provided [RCV002671677] Chr8:28737555 [GRCh38]
Chr8:28595072 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.512C>T (p.Pro171Leu) single nucleotide variant not provided [RCV002646298] Chr8:28716571 [GRCh38]
Chr8:28574088 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1746G>T (p.Pro582=) single nucleotide variant not provided [RCV002672011] Chr8:28717805 [GRCh38]
Chr8:28575322 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.659C>T (p.Ala220Val) single nucleotide variant Inborn genetic diseases [RCV002792257] Chr8:28716718 [GRCh38]
Chr8:28574235 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2299C>T (p.Arg767Cys) single nucleotide variant not provided [RCV002580278] Chr8:28737541 [GRCh38]
Chr8:28595058 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2097C>G (p.Pro699=) single nucleotide variant not provided [RCV002579175] Chr8:28718156 [GRCh38]
Chr8:28575673 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.312C>T (p.Asn104=) single nucleotide variant not provided [RCV002856455] Chr8:28716371 [GRCh38]
Chr8:28573888 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.878C>T (p.Thr293Ile) single nucleotide variant not provided [RCV003026670] Chr8:28716937 [GRCh38]
Chr8:28574454 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.435C>T (p.Leu145=) single nucleotide variant not provided [RCV002598237] Chr8:28716494 [GRCh38]
Chr8:28574011 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.156C>G (p.Thr52=) single nucleotide variant not provided [RCV003091064] Chr8:28716215 [GRCh38]
Chr8:28573732 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1221C>T (p.Ser407=) single nucleotide variant not provided [RCV002806638] Chr8:28717280 [GRCh38]
Chr8:28574797 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2422-12T>C single nucleotide variant not provided [RCV003026735] Chr8:28743074 [GRCh38]
Chr8:28600591 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1342G>A (p.Ala448Thr) single nucleotide variant not provided [RCV002576472] Chr8:28717401 [GRCh38]
Chr8:28574918 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2275C>T (p.Arg759Trp) single nucleotide variant Inborn genetic diseases [RCV002668753] Chr8:28731349 [GRCh38]
Chr8:28588866 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1833C>T (p.Phe611=) single nucleotide variant not provided [RCV002938643] Chr8:28717892 [GRCh38]
Chr8:28575409 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.751C>T (p.Leu251=) single nucleotide variant not provided [RCV002602640] Chr8:28716810 [GRCh38]
Chr8:28574327 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2464C>T (p.Arg822Trp) single nucleotide variant not provided [RCV002988828] Chr8:28743128 [GRCh38]
Chr8:28600645 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.397A>G (p.Asn133Asp) single nucleotide variant not provided [RCV002598689] Chr8:28716456 [GRCh38]
Chr8:28573973 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2421+7A>C single nucleotide variant not provided [RCV002857366] Chr8:28737670 [GRCh38]
Chr8:28595187 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1107C>T (p.Gly369=) single nucleotide variant not provided [RCV002577261] Chr8:28717166 [GRCh38]
Chr8:28574683 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1537C>T (p.Arg513Cys) single nucleotide variant not provided [RCV003062157] Chr8:28717596 [GRCh38]
Chr8:28575113 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.743_870dup (p.Val291fs) duplication not provided [RCV002811869] Chr8:28716800..28716801 [GRCh38]
Chr8:28574317..28574318 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.108C>G (p.Leu36=) single nucleotide variant not provided [RCV003091747] Chr8:28716167 [GRCh38]
Chr8:28573684 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2163G>T (p.Glu721Asp) single nucleotide variant not provided [RCV002811057] Chr8:28731237 [GRCh38]
Chr8:28588754 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.801G>A (p.Arg267=) single nucleotide variant not provided [RCV003049973] Chr8:28716860 [GRCh38]
Chr8:28574377 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1308C>T (p.Pro436=) single nucleotide variant not provided [RCV002604066] Chr8:28717367 [GRCh38]
Chr8:28574884 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.6A>G (p.Thr2=) single nucleotide variant not provided [RCV002814911] Chr8:28716065 [GRCh38]
Chr8:28573582 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2076C>T (p.Val692=) single nucleotide variant not provided [RCV002605929] Chr8:28718135 [GRCh38]
Chr8:28575652 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1145C>A (p.Thr382Asn) single nucleotide variant not provided [RCV003049888] Chr8:28717204 [GRCh38]
Chr8:28574721 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1835A>G (p.His612Arg) single nucleotide variant not provided [RCV002586006] Chr8:28717894 [GRCh38]
Chr8:28575411 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.195T>C (p.Phe65=) single nucleotide variant not provided [RCV002635532] Chr8:28716254 [GRCh38]
Chr8:28573771 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1309G>A (p.Gly437Arg) single nucleotide variant not provided [RCV002607720] Chr8:28717368 [GRCh38]
Chr8:28574885 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1740G>C (p.Thr580=) single nucleotide variant not provided [RCV002587133] Chr8:28717799 [GRCh38]
Chr8:28575316 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.83G>A (p.Arg28His) single nucleotide variant not provided [RCV002588155] Chr8:28716142 [GRCh38]
Chr8:28573659 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1588G>A (p.Val530Met) single nucleotide variant not provided [RCV002582411] Chr8:28717647 [GRCh38]
Chr8:28575164 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1143C>T (p.Ala381=) single nucleotide variant not provided [RCV002634715] Chr8:28717202 [GRCh38]
Chr8:28574719 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.222C>T (p.Cys74=) single nucleotide variant not provided [RCV002611176] Chr8:28716281 [GRCh38]
Chr8:28573798 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.512C>A (p.Pro171Gln) single nucleotide variant not provided [RCV002587531] Chr8:28716571 [GRCh38]
Chr8:28574088 [GRCh37]
Chr8:8p21.1		 uncertain significance
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12		 pathogenic
NM_001440.4(EXTL3):c.255C>G (p.Ile85Met) single nucleotide variant Inborn genetic diseases [RCV003370038] Chr8:28716314 [GRCh38]
Chr8:28573831 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2724G>T (p.Leu908=) single nucleotide variant not provided [RCV003543243] Chr8:28750830 [GRCh38]
Chr8:28608347 [GRCh37]
Chr8:8p21.1		 likely benign
GRCh37/hg19 8p21.1(chr8:28560001-28775609)x1 copy number loss not provided [RCV003483024] Chr8:28560001..28775609 [GRCh37]
Chr8:8p21.1		 uncertain significance
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
NM_001440.4(EXTL3):c.945C>G (p.Val315=) single nucleotide variant not provided [RCV003576865] Chr8:28717004 [GRCh38]
Chr8:28574521 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.61C>T (p.Leu21=) single nucleotide variant not provided [RCV003696559] Chr8:28716120 [GRCh38]
Chr8:28573637 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.723A>G (p.Leu241=) single nucleotide variant not provided [RCV003575510] Chr8:28716782 [GRCh38]
Chr8:28574299 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1089C>T (p.Phe363=) single nucleotide variant not provided [RCV003740336] Chr8:28717148 [GRCh38]
Chr8:28574665 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1986G>T (p.Gln662His) single nucleotide variant not provided [RCV003575883] Chr8:28718045 [GRCh38]
Chr8:28575562 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2276+17C>T single nucleotide variant not provided [RCV003660660] Chr8:28731367 [GRCh38]
Chr8:28588884 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2149-15C>T single nucleotide variant not provided [RCV003825127] Chr8:28731208 [GRCh38]
Chr8:28588725 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1083C>T (p.Arg361=) single nucleotide variant not provided [RCV003830999] Chr8:28717142 [GRCh38]
Chr8:28574659 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1710C>T (p.Asn570=) single nucleotide variant not provided [RCV003692926] Chr8:28717769 [GRCh38]
Chr8:28575286 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1134G>A (p.Arg378=) single nucleotide variant not provided [RCV003573883] Chr8:28717193 [GRCh38]
Chr8:28574710 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2436G>C (p.Leu812=) single nucleotide variant not provided [RCV003572884] Chr8:28743100 [GRCh38]
Chr8:28600617 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2724G>A (p.Leu908=) single nucleotide variant not provided [RCV003662461] Chr8:28750830 [GRCh38]
Chr8:28608347 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2664C>T (p.Gly888=) single nucleotide variant not provided [RCV003687601] Chr8:28750770 [GRCh38]
Chr8:28608287 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.30G>T (p.Gly10=) single nucleotide variant not provided [RCV003826982] Chr8:28716089 [GRCh38]
Chr8:28573606 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2103G>A (p.Leu701=) single nucleotide variant not provided [RCV003548894] Chr8:28718162 [GRCh38]
Chr8:28575679 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1740G>A (p.Thr580=) single nucleotide variant not provided [RCV003849317] Chr8:28717799 [GRCh38]
Chr8:28575316 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1332C>T (p.Ser444=) single nucleotide variant not provided [RCV003664054] Chr8:28717391 [GRCh38]
Chr8:28574908 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2551-4C>T single nucleotide variant not provided [RCV003667966] Chr8:28750653 [GRCh38]
Chr8:28608170 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1781C>G (p.Thr594Ser) single nucleotide variant not provided [RCV003665370] Chr8:28717840 [GRCh38]
Chr8:28575357 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1356C>T (p.Phe452=) single nucleotide variant not provided [RCV003833018] Chr8:28717415 [GRCh38]
Chr8:28574932 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.999A>G (p.Pro333=) single nucleotide variant not provided [RCV003703363] Chr8:28717058 [GRCh38]
Chr8:28574575 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.467C>T (p.Pro156Leu) single nucleotide variant not provided [RCV003723329] Chr8:28716526 [GRCh38]
Chr8:28574043 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1222C>T (p.Leu408=) single nucleotide variant not provided [RCV003669868] Chr8:28717281 [GRCh38]
Chr8:28574798 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.135C>T (p.Leu45=) single nucleotide variant not provided [RCV003702145] Chr8:28716194 [GRCh38]
Chr8:28573711 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV003666720] Chr8:28716061 [GRCh38]
Chr8:28573578 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.252C>T (p.Arg84=) single nucleotide variant not provided [RCV003702908] Chr8:28716311 [GRCh38]
Chr8:28573828 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1420G>A (p.Asp474Asn) single nucleotide variant not provided [RCV003701523] Chr8:28717479 [GRCh38]
Chr8:28574996 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2148+5T>C single nucleotide variant not provided [RCV003814733] Chr8:28718212 [GRCh38]
Chr8:28575729 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1872C>T (p.Pro624=) single nucleotide variant not provided [RCV003700193] Chr8:28717931 [GRCh38]
Chr8:28575448 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2422-15T>G single nucleotide variant not provided [RCV003668579] Chr8:28743071 [GRCh38]
Chr8:28600588 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1068C>T (p.Ser356=) single nucleotide variant not provided [RCV003700769] Chr8:28717127 [GRCh38]
Chr8:28574644 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.105G>A (p.Thr35=) single nucleotide variant not provided [RCV003852554] Chr8:28716164 [GRCh38]
Chr8:28573681 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.117C>T (p.Ile39=) single nucleotide variant not provided [RCV003728314] Chr8:28716176 [GRCh38]
Chr8:28573693 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1341T>C (p.Cys447=) single nucleotide variant not provided [RCV003677698] Chr8:28717400 [GRCh38]
Chr8:28574917 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.792A>C (p.Pro264=) single nucleotide variant not provided [RCV003705637] Chr8:28716851 [GRCh38]
Chr8:28574368 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1746G>A (p.Pro582=) single nucleotide variant not provided [RCV003729120] Chr8:28717805 [GRCh38]
Chr8:28575322 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1117G>A (p.Ala373Thr) single nucleotide variant not provided [RCV003710947] Chr8:28717176 [GRCh38]
Chr8:28574693 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.462C>T (p.Ser154=) single nucleotide variant not provided [RCV003711727] Chr8:28716521 [GRCh38]
Chr8:28574038 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1521T>C (p.Ala507=) single nucleotide variant not provided [RCV003711705] Chr8:28717580 [GRCh38]
Chr8:28575097 [GRCh37]
Chr8:8p21.1		 likely benign
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
NM_001440.4(EXTL3):c.123C>G (p.Val41=) single nucleotide variant not provided [RCV003684160] Chr8:28716182 [GRCh38]
Chr8:28573699 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2467G>A (p.Asp823Asn) single nucleotide variant not provided [RCV003721241] Chr8:28743131 [GRCh38]
Chr8:28600648 [GRCh37]
Chr8:8p21.1		 uncertain significance
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001440.4(EXTL3):c.2305G>A (p.Val769Met) single nucleotide variant not provided [RCV003567700] Chr8:28737547 [GRCh38]
Chr8:28595064 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2685G>A (p.Thr895=) single nucleotide variant not provided [RCV003681825] Chr8:28750791 [GRCh38]
Chr8:28608308 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.747G>C (p.Val249=) single nucleotide variant not provided [RCV003676880] Chr8:28716806 [GRCh38]
Chr8:28574323 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1912C>T (p.Pro638Ser) single nucleotide variant not provided [RCV003721214] Chr8:28717971 [GRCh38]
Chr8:28575488 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.564C>T (p.Cys188=) single nucleotide variant not provided [RCV003723121] Chr8:28716623 [GRCh38]
Chr8:28574140 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2421+17A>G single nucleotide variant not provided [RCV003712396] Chr8:28737680 [GRCh38]
Chr8:28595197 [GRCh37]
Chr8:8p21.1		 likely benign
GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1 copy number loss not specified [RCV003986748] Chr8:23754939..30219110 [GRCh37]
Chr8:8p21.2-12		 pathogenic
NM_001440.4(EXTL3):c.2235C>T (p.Asp745=) single nucleotide variant not provided [RCV003842979] Chr8:28731309 [GRCh38]
Chr8:28588826 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2469C>T (p.Asp823=) single nucleotide variant not provided [RCV003841639] Chr8:28743133 [GRCh38]
Chr8:28600650 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2739C>G (p.Thr913=) single nucleotide variant not provided [RCV003732758] Chr8:28750845 [GRCh38]
Chr8:28608362 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2553G>A (p.Val851=) single nucleotide variant not provided [RCV003553345] Chr8:28750659 [GRCh38]
Chr8:28608176 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1992G>A (p.Thr664=) single nucleotide variant not provided [RCV003853515] Chr8:28718051 [GRCh38]
Chr8:28575568 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2679G>A (p.Leu893=) single nucleotide variant not provided [RCV003566145] Chr8:28750785 [GRCh38]
Chr8:28608302 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.2673C>T (p.Pro891=) single nucleotide variant not provided [RCV003856969] Chr8:28750779 [GRCh38]
Chr8:28608296 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.504C>T (p.Leu168=) single nucleotide variant not provided [RCV003842086] Chr8:28716563 [GRCh38]
Chr8:28574080 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1860C>T (p.Asp620=) single nucleotide variant not provided [RCV003731243] Chr8:28717919 [GRCh38]
Chr8:28575436 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.1338G>C (p.Gly446=) single nucleotide variant not provided [RCV003563570] Chr8:28717397 [GRCh38]
Chr8:28574914 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.565C>T (p.Pro189Ser) single nucleotide variant not provided [RCV003705618] Chr8:28716624 [GRCh38]
Chr8:28574141 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.1888T>C (p.Leu630=) single nucleotide variant not provided [RCV003857387] Chr8:28717947 [GRCh38]
Chr8:28575464 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.810A>G (p.Gly270=) single nucleotide variant not provided [RCV003564194] Chr8:28716869 [GRCh38]
Chr8:28574386 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.342C>A (p.Ile114=) single nucleotide variant EXTL3-related disorder [RCV003931633] Chr8:28716401 [GRCh38]
Chr8:28573918 [GRCh37]
Chr8:8p21.1		 likely benign
NM_001440.4(EXTL3):c.23G>A (p.Arg8Gln) single nucleotide variant Inborn genetic diseases [RCV004385690] Chr8:28716082 [GRCh38]
Chr8:28573599 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2152G>A (p.Val718Ile) single nucleotide variant Inborn genetic diseases [RCV004385687] Chr8:28731226 [GRCh38]
Chr8:28588743 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2098A>G (p.Lys700Glu) single nucleotide variant Inborn genetic diseases [RCV004385686] Chr8:28718157 [GRCh38]
Chr8:28575674 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.511C>T (p.Pro171Ser) single nucleotide variant Inborn genetic diseases [RCV004385691] Chr8:28716570 [GRCh38]
Chr8:28574087 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_001440.4(EXTL3):c.2328C>A (p.His776Gln) single nucleotide variant Inborn genetic diseases [RCV004385689] Chr8:28737570 [GRCh38]
Chr8:28595087 [GRCh37]
Chr8:8p21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3585
Count of miRNA genes:1183
Interacting mature miRNAs:1534
Transcripts:ENST00000220562, ENST00000454906, ENST00000517738, ENST00000518223, ENST00000519288, ENST00000519886, ENST00000520679, ENST00000520940, ENST00000521473, ENST00000521532, ENST00000522698, ENST00000522725, ENST00000523149, ENST00000523271
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
407037380GWAS686356_Hbody height QTL GWAS686356 (human)1e-09body height (VT:0001253)body height (CMO:0000106)82873505128735052Human
407266656GWAS915632_Hbody height QTL GWAS915632 (human)7e-54body height (VT:0001253)body height (CMO:0000106)82875225228752253Human
406958246GWAS607222_Hbody height QTL GWAS607222 (human)2e-15body height (VT:0001253)body height (CMO:0000106)82873526328735264Human
406903212GWAS552188_HCOVID-19 QTL GWAS552188 (human)0.000005COVID-1982873914028739141Human
406977453GWAS626429_Hwhite matter microstructure measurement QTL GWAS626429 (human)4e-08white matter microstructure measurement82868610828686109Human
407196392GWAS845368_Hbody height QTL GWAS845368 (human)2e-08body height (VT:0001253)body height (CMO:0000106)82875364228753643Human
407274569GWAS923545_Hdrug-Induced dyskinesia, response to levodopa QTL GWAS923545 (human)0.000009drug-Induced dyskinesia, response to levodopa82866434428664345Human
407323656GWAS972632_Hbody height QTL GWAS972632 (human)9e-10body height (VT:0001253)body height (CMO:0000106)82872972628729727Human
407018929GWAS667905_Hbody height QTL GWAS667905 (human)8e-10body height (VT:0001253)body height (CMO:0000106)82868412328684124Human
407049527GWAS698503_Hbody height QTL GWAS698503 (human)2e-08body height (VT:0001253)body height (CMO:0000106)82874727428747275Human
407016663GWAS665639_Hbody height QTL GWAS665639 (human)1e-08body height (VT:0001253)body height (CMO:0000106)82867442228674423Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human
407286973GWAS935949_Hbody height QTL GWAS935949 (human)1e-10body height (VT:0001253)body height (CMO:0000106)82874015228740153Human
407388564GWAS1037540_Hacute myeloid leukemia QTL GWAS1037540 (human)8e-16acute myeloid leukemia82861049228610493Human
407388565GWAS1037541_Hacute myeloid leukemia QTL GWAS1037541 (human)0.0000007acute myeloid leukemia82861049228610493Human
407388566GWAS1037542_Hacute myeloid leukemia QTL GWAS1037542 (human)0.000001acute myeloid leukemia82861049228610493Human

Markers in Region
D8S1402E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37828,611,030 - 28,611,160UniSTSGRCh37
Build 36828,666,949 - 28,667,079RGDNCBI36
Celera827,570,880 - 27,571,010RGD
Cytogenetic Map8p21UniSTS
HuRef827,156,570 - 27,156,700UniSTS
GeneMap99-GB4 RH Map8114.89UniSTS
STS-M79217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37828,588,768 - 28,588,858UniSTSGRCh37
Build 36828,644,687 - 28,644,777RGDNCBI36
Celera827,548,622 - 27,548,712RGD
Cytogenetic Map8p21UniSTS
HuRef827,134,302 - 27,134,392UniSTS
GeneMap99-GB4 RH Map8115.1UniSTS
RH121646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37828,588,574 - 28,588,885UniSTSGRCh37
Build 36828,644,493 - 28,644,804RGDNCBI36
Celera827,548,428 - 27,548,739RGD
Cytogenetic Map8p21UniSTS
HuRef827,134,108 - 27,134,419UniSTS
TNG Radiation Hybrid Map814510.0UniSTS
D8S1403E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37828,610,975 - 28,611,133UniSTSGRCh37
Build 36828,666,894 - 28,667,052RGDNCBI36
Celera827,570,825 - 27,570,983RGD
Cytogenetic Map8p21UniSTS
HuRef827,156,515 - 27,156,673UniSTS
SHGC-110015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37828,575,779 - 28,576,128UniSTSGRCh37
Build 36828,631,698 - 28,632,047RGDNCBI36
Celera827,535,632 - 27,535,981RGD
Cytogenetic Map8p21UniSTS
HuRef827,121,309 - 27,121,658UniSTS
TNG Radiation Hybrid Map814514.0UniSTS
A002S41  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37828,609,495 - 28,609,655UniSTSGRCh37
Build 36828,665,414 - 28,665,574RGDNCBI36
Celera827,569,345 - 27,569,505RGD
Cytogenetic Map8p21UniSTS
HuRef827,155,035 - 27,155,195UniSTS
GeneMap99-GB4 RH Map8114.89UniSTS
RH15942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37828,610,946 - 28,611,092UniSTSGRCh37
Build 36828,666,865 - 28,667,011RGDNCBI36
Celera827,570,796 - 27,570,942RGD
Cytogenetic Map8p21UniSTS
HuRef827,156,486 - 27,156,632UniSTS
GeneMap99-GB4 RH Map8115.42UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
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Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2253 4973 1726 2351 5 624 1951 465 2269 7304 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB011091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC131969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF001690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF029231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF083551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW105691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI911162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA222815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA757362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U76188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U96629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000220562   ⟹   ENSP00000220562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,701,501 - 28,755,599 (+)Ensembl
Ensembl Acc Id: ENST00000454906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,631,432 - 28,715,610 (+)Ensembl
Ensembl Acc Id: ENST00000517738   ⟹   ENSP00000430652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,730,160 - 28,750,724 (+)Ensembl
Ensembl Acc Id: ENST00000518223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,710,355 - 28,715,903 (+)Ensembl
Ensembl Acc Id: ENST00000519288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,622,761 - 28,715,786 (+)Ensembl
Ensembl Acc Id: ENST00000519886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,701,605 - 28,752,832 (+)Ensembl
Ensembl Acc Id: ENST00000520679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,743,976 - 28,751,094 (+)Ensembl
Ensembl Acc Id: ENST00000520940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,631,406 - 28,713,513 (+)Ensembl
Ensembl Acc Id: ENST00000521473   ⟹   ENSP00000429627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,718,060 - 28,750,836 (+)Ensembl
Ensembl Acc Id: ENST00000521532   ⟹   ENSP00000431013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,710,358 - 28,743,183 (+)Ensembl
Ensembl Acc Id: ENST00000522698   ⟹   ENSP00000428352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,716,685 - 28,743,164 (+)Ensembl
Ensembl Acc Id: ENST00000522725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,600,469 - 28,715,616 (+)Ensembl
Ensembl Acc Id: ENST00000523149   ⟹   ENSP00000428691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,622,729 - 28,750,903 (+)Ensembl
Ensembl Acc Id: ENST00000523271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,739,901 - 28,755,599 (+)Ensembl
Ensembl Acc Id: ENST00000696177   ⟹   ENSP00000512467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,622,732 - 28,756,561 (+)Ensembl
Ensembl Acc Id: ENST00000696178   ⟹   ENSP00000512468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,622,732 - 28,756,561 (+)Ensembl
Ensembl Acc Id: ENST00000696179   ⟹   ENSP00000512469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,701,500 - 28,744,779 (+)Ensembl
Ensembl Acc Id: ENST00000696180   ⟹   ENSP00000512470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,701,500 - 28,753,687 (+)Ensembl
Ensembl Acc Id: ENST00000696181   ⟹   ENSP00000512471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,701,500 - 28,753,687 (+)Ensembl
Ensembl Acc Id: ENST00000696182   ⟹   ENSP00000512472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,701,503 - 28,756,561 (+)Ensembl
Ensembl Acc Id: ENST00000696183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,701,513 - 28,702,709 (+)Ensembl
Ensembl Acc Id: ENST00000696184   ⟹   ENSP00000512473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,701,580 - 28,753,690 (+)Ensembl
Ensembl Acc Id: ENST00000696185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,701,596 - 28,733,700 (+)Ensembl
Ensembl Acc Id: ENST00000696186   ⟹   ENSP00000512474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,701,598 - 28,755,599 (+)Ensembl
Ensembl Acc Id: ENST00000696187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,701,613 - 28,716,051 (+)Ensembl
Ensembl Acc Id: ENST00000696188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl828,730,925 - 28,756,561 (+)Ensembl
RefSeq Acc Id: NM_001440   ⟹   NP_001431
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38828,701,501 - 28,755,599 (+)NCBI
GRCh37828,558,990 - 28,611,207 (+)NCBI
Build 36828,615,072 - 28,667,121 (+)NCBI Archive
HuRef827,104,516 - 27,156,747 (+)NCBI
CHM1_1828,761,018 - 28,813,245 (+)NCBI
T2T-CHM13v2.0828,979,705 - 29,033,822 (+)NCBI
Sequence:
RefSeq Acc Id: NR_073468
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38828,701,501 - 28,755,599 (+)NCBI
GRCh37828,558,990 - 28,611,207 (+)NCBI
HuRef827,104,516 - 27,156,747 (+)NCBI
CHM1_1828,761,018 - 28,813,245 (+)NCBI
T2T-CHM13v2.0828,979,705 - 29,033,822 (+)NCBI
Sequence:
RefSeq Acc Id: NR_073469
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38828,701,501 - 28,753,687 (+)NCBI
GRCh37828,558,990 - 28,611,207 (+)NCBI
HuRef827,104,516 - 27,156,747 (+)NCBI
CHM1_1828,761,018 - 28,813,245 (+)NCBI
T2T-CHM13v2.0828,979,705 - 29,031,906 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544440   ⟹   XP_011542742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38828,701,501 - 28,755,599 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447094   ⟹   XP_024302862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38828,622,736 - 28,755,599 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447096   ⟹   XP_024302864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38828,607,736 - 28,755,599 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047421514   ⟹   XP_047277470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38828,622,736 - 28,755,599 (+)NCBI
RefSeq Acc Id: XM_047421515   ⟹   XP_047277471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38828,685,886 - 28,755,599 (+)NCBI
RefSeq Acc Id: XM_047421516   ⟹   XP_047277472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38828,622,736 - 28,755,599 (+)NCBI
RefSeq Acc Id: XM_047421517   ⟹   XP_047277473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38828,701,501 - 28,755,599 (+)NCBI
RefSeq Acc Id: XM_047421518   ⟹   XP_047277474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38828,622,736 - 28,755,599 (+)NCBI
RefSeq Acc Id: XM_054360028   ⟹   XP_054216003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0828,964,088 - 29,033,822 (+)NCBI
RefSeq Acc Id: XM_054360029   ⟹   XP_054216004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0828,979,705 - 29,033,822 (+)NCBI
RefSeq Acc Id: XM_054360030   ⟹   XP_054216005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0828,885,904 - 29,033,822 (+)NCBI
RefSeq Acc Id: XM_054360031   ⟹   XP_054216006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0828,979,705 - 29,033,822 (+)NCBI
RefSeq Acc Id: XM_054360032   ⟹   XP_054216007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0828,900,854 - 29,033,822 (+)NCBI
RefSeq Acc Id: XM_054360033   ⟹   XP_054216008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0828,900,875 - 29,033,822 (+)NCBI
RefSeq Acc Id: XM_054360034   ⟹   XP_054216009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0828,900,881 - 29,033,822 (+)NCBI
RefSeq Acc Id: XM_054360035   ⟹   XP_054216010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0828,900,883 - 29,033,822 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001431 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542742 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302862 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302864 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277470 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277471 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277472 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277473 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277474 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216003 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216004 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216005 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216006 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216007 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216008 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216009 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216010 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB67602 (Get FASTA)   NCBI Sequence Viewer  
  AAB93670 (Get FASTA)   NCBI Sequence Viewer  
  AAC39598 (Get FASTA)   NCBI Sequence Viewer  
  AAD01877 (Get FASTA)   NCBI Sequence Viewer  
  AAD42041 (Get FASTA)   NCBI Sequence Viewer  
  AAH06363 (Get FASTA)   NCBI Sequence Viewer  
  AAP36017 (Get FASTA)   NCBI Sequence Viewer  
  ADO22448 (Get FASTA)   NCBI Sequence Viewer  
  BAA24080 (Get FASTA)   NCBI Sequence Viewer  
  BAA25445 (Get FASTA)   NCBI Sequence Viewer  
  BAG57702 (Get FASTA)   NCBI Sequence Viewer  
  CAH18440 (Get FASTA)   NCBI Sequence Viewer  
  EAW63507 (Get FASTA)   NCBI Sequence Viewer  
  EAW63508 (Get FASTA)   NCBI Sequence Viewer  
  EAW63509 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000220562
  ENSP00000220562.4
  ENSP00000428352.1
  ENSP00000429627.1
  ENSP00000512467.1
  ENSP00000512468
  ENSP00000512468.1
  ENSP00000512469.1
  ENSP00000512470.1
  ENSP00000512471.1
  ENSP00000512472.1
  ENSP00000512473.1
  ENSP00000512474
  ENSP00000512474.1
GenBank Protein O43909 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001431   ⟸   NM_001440
- UniProtKB: O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   Q53XT3 (UniProtKB/Swiss-Prot),   O43909 (UniProtKB/Swiss-Prot),   A0A384NPY9 (UniProtKB/TrEMBL),   A0A8Q3SIF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542742   ⟸   XM_011544440
- Peptide Label: isoform X1
- UniProtKB: O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   Q53XT3 (UniProtKB/Swiss-Prot),   O43909 (UniProtKB/Swiss-Prot),   A0A384NPY9 (UniProtKB/TrEMBL),   A0A8Q3SIF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302864   ⟸   XM_024447096
- Peptide Label: isoform X1
- UniProtKB: O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   Q53XT3 (UniProtKB/Swiss-Prot),   A0A384NPY9 (UniProtKB/TrEMBL),   A0A8Q3SIF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302862   ⟸   XM_024447094
- Peptide Label: isoform X1
- UniProtKB: O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   Q53XT3 (UniProtKB/Swiss-Prot),   A0A384NPY9 (UniProtKB/TrEMBL),   A0A8Q3SIF4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000430652   ⟸   ENST00000517738
Ensembl Acc Id: ENSP00000431013   ⟸   ENST00000521532
Ensembl Acc Id: ENSP00000429627   ⟸   ENST00000521473
Ensembl Acc Id: ENSP00000428352   ⟸   ENST00000522698
Ensembl Acc Id: ENSP00000428691   ⟸   ENST00000523149
Ensembl Acc Id: ENSP00000220562   ⟸   ENST00000220562
Ensembl Acc Id: ENSP00000512468   ⟸   ENST00000696178
Ensembl Acc Id: ENSP00000512471   ⟸   ENST00000696181
Ensembl Acc Id: ENSP00000512474   ⟸   ENST00000696186
Ensembl Acc Id: ENSP00000512469   ⟸   ENST00000696179
Ensembl Acc Id: ENSP00000512473   ⟸   ENST00000696184
Ensembl Acc Id: ENSP00000512467   ⟸   ENST00000696177
Ensembl Acc Id: ENSP00000512470   ⟸   ENST00000696180
Ensembl Acc Id: ENSP00000512472   ⟸   ENST00000696182
RefSeq Acc Id: XP_047277472   ⟸   XM_047421516
- Peptide Label: isoform X1
- UniProtKB: O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   Q53XT3 (UniProtKB/Swiss-Prot),   A0A8Q3SIF4 (UniProtKB/TrEMBL),   A0A384NPY9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277474   ⟸   XM_047421518
- Peptide Label: isoform X1
- UniProtKB: O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   Q53XT3 (UniProtKB/Swiss-Prot),   A0A8Q3SIF4 (UniProtKB/TrEMBL),   A0A384NPY9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277470   ⟸   XM_047421514
- Peptide Label: isoform X1
- UniProtKB: O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   Q53XT3 (UniProtKB/Swiss-Prot),   A0A8Q3SIF4 (UniProtKB/TrEMBL),   A0A384NPY9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277471   ⟸   XM_047421515
- Peptide Label: isoform X1
- UniProtKB: O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   Q53XT3 (UniProtKB/Swiss-Prot),   A0A8Q3SIF4 (UniProtKB/TrEMBL),   A0A384NPY9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277473   ⟸   XM_047421517
- Peptide Label: isoform X1
- UniProtKB: O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   Q53XT3 (UniProtKB/Swiss-Prot),   A0A8Q3SIF4 (UniProtKB/TrEMBL),   A0A384NPY9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216005   ⟸   XM_054360030
- Peptide Label: isoform X1
- UniProtKB: Q53XT3 (UniProtKB/Swiss-Prot),   O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   A0A8Q3SIF4 (UniProtKB/TrEMBL),   A0A384NPY9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216007   ⟸   XM_054360032
- Peptide Label: isoform X1
- UniProtKB: Q53XT3 (UniProtKB/Swiss-Prot),   O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   A0A8Q3SIF4 (UniProtKB/TrEMBL),   A0A384NPY9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216008   ⟸   XM_054360033
- Peptide Label: isoform X1
- UniProtKB: Q53XT3 (UniProtKB/Swiss-Prot),   O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   A0A8Q3SIF4 (UniProtKB/TrEMBL),   A0A384NPY9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216009   ⟸   XM_054360034
- Peptide Label: isoform X1
- UniProtKB: Q53XT3 (UniProtKB/Swiss-Prot),   O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   A0A8Q3SIF4 (UniProtKB/TrEMBL),   A0A384NPY9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216010   ⟸   XM_054360035
- Peptide Label: isoform X1
- UniProtKB: Q53XT3 (UniProtKB/Swiss-Prot),   O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   A0A8Q3SIF4 (UniProtKB/TrEMBL),   A0A384NPY9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216003   ⟸   XM_054360028
- Peptide Label: isoform X1
- UniProtKB: Q53XT3 (UniProtKB/Swiss-Prot),   O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   A0A8Q3SIF4 (UniProtKB/TrEMBL),   A0A384NPY9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216004   ⟸   XM_054360029
- Peptide Label: isoform X1
- UniProtKB: Q53XT3 (UniProtKB/Swiss-Prot),   O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   A0A8Q3SIF4 (UniProtKB/TrEMBL),   A0A384NPY9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216006   ⟸   XM_054360031
- Peptide Label: isoform X1
- UniProtKB: Q53XT3 (UniProtKB/Swiss-Prot),   O43909 (UniProtKB/Swiss-Prot),   O00225 (UniProtKB/Swiss-Prot),   D3DST8 (UniProtKB/Swiss-Prot),   A0A8Q3SIF4 (UniProtKB/TrEMBL),   A0A384NPY9 (UniProtKB/TrEMBL)
Protein Domains
Exostosin GT47   Glycosyl transferase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43909-F1-model_v2 AlphaFold O43909 1-919 view protein structure

Promoters
RGD ID:6807114
Promoter ID:HG_KWN:61021
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000219987,   UC003XGY.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36828,614,041 - 28,615,282 (-)MPROMDB
RGD ID:7212997
Promoter ID:EPDNEW_H12244
Type:initiation region
Name:EXTL3_2
Description:exostosin like glycosyltransferase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12245  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38828,701,363 - 28,701,423EPDNEW
RGD ID:7212999
Promoter ID:EPDNEW_H12245
Type:initiation region
Name:EXTL3_1
Description:exostosin like glycosyltransferase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12244  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38828,701,505 - 28,701,565EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3518 AgrOrtholog
COSMIC EXTL3 COSMIC
Ensembl Genes ENSG00000012232 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000220562 ENTREZGENE
  ENST00000220562.9 UniProtKB/Swiss-Prot
  ENST00000521473.5 UniProtKB/TrEMBL
  ENST00000522698.1 UniProtKB/TrEMBL
  ENST00000696177.1 UniProtKB/Swiss-Prot
  ENST00000696178 ENTREZGENE
  ENST00000696178.1 UniProtKB/Swiss-Prot
  ENST00000696179.1 UniProtKB/TrEMBL
  ENST00000696180.1 UniProtKB/TrEMBL
  ENST00000696181.1 UniProtKB/TrEMBL
  ENST00000696182 ENTREZGENE
  ENST00000696182.1 UniProtKB/TrEMBL
  ENST00000696184.1 UniProtKB/Swiss-Prot
  ENST00000696186 ENTREZGENE
  ENST00000696186.1 UniProtKB/Swiss-Prot
GTEx ENSG00000012232 GTEx
HGNC ID HGNC:3518 ENTREZGENE
Human Proteome Map EXTL3 Human Proteome Map
InterPro Exostosin 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:2137 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2137 ENTREZGENE
OMIM 605744 OMIM
PANTHER ACETYLGLUCOSAMINYLTRANSFERASE UniProtKB/Swiss-Prot
  ACETYLGLUCOSAMINYLTRANSFERASE UniProtKB/Swiss-Prot
  ACETYLGLUCOSAMINYLTRANSFERASE UniProtKB/TrEMBL
  ACETYLGLUCOSAMINYLTRANSFERASE UniProtKB/TrEMBL
Pfam Exostosin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_transf_64 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27930 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384NPY9 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SIB8_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIF4 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SII2_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIK7_HUMAN UniProtKB/TrEMBL
  D3DST8 ENTREZGENE
  EXTL3_HUMAN UniProtKB/Swiss-Prot
  H0YB01_HUMAN UniProtKB/TrEMBL
  H0YBJ7_HUMAN UniProtKB/TrEMBL
  O00225 ENTREZGENE
  O43909 ENTREZGENE
  Q53XT3 ENTREZGENE
UniProt Secondary D3DST8 UniProtKB/Swiss-Prot
  O00225 UniProtKB/Swiss-Prot
  Q53XT3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 EXTL3  exostosin like glycosyltransferase 3    exostosin-like glycosyltransferase 3  Symbol and/or name change 5135510 APPROVED
2013-03-06 EXTL3  exostosin-like glycosyltransferase 3    exostoses (multiple)-like 3  Symbol and/or name change 5135510 APPROVED