XYLT1 (xylosyltransferase 1) - Rat Genome Database

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Gene: XYLT1 (xylosyltransferase 1) Homo sapiens
Analyze
Symbol: XYLT1
Name: xylosyltransferase 1
RGD ID: 737486
HGNC Page HGNC:15516
Description: Enables protein xylosyltransferase activity. Involved in chondroitin sulfate proteoglycan biosynthetic process and heparan sulfate proteoglycan biosynthetic process. Located in Golgi membrane and extracellular space. Implicated in Desbuquois dysplasia; pseudoxanthoma elasticum; and type 1 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-D-xylosyltransferase 1; DBQD2; O-xylosyltransferase 1; peptide O-xylosyltransferase 1; PXYLT1; XT-I; XT1; XTI; xylosyltransferase I; xylosyltransferase iota; xylT-I; XYLTI
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black 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
GRCh381617,101,769 - 17,470,960 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1617,101,769 - 17,470,960 (-)Ensemblhg38GRCh38
GRCh371617,195,626 - 17,564,817 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361617,103,682 - 17,472,239 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341617,108,839 - 17,472,239NCBI
Celera1616,738,145 - 17,106,289 (-)NCBICelera
Cytogenetic Map16p12.3NCBI
HuRef1616,198,445 - 16,453,510 (-)NCBIHuRef
CHM1_11617,283,444 - 17,652,050 (-)NCBICHM1_1
T2T-CHM13v2.01617,108,779 - 17,478,203 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal eyelash morphology  (IAGP)
Abnormal femoral neck/head morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal prothrombin time  (IAGP)
Abnormality of the dentition  (IAGP)
Accelerated atherosclerosis  (IAGP)
Accelerated skeletal maturation  (IAGP)
Accessory carpal bones  (IAGP)
Acne  (IAGP)
Advanced ossification of carpal bones  (IAGP)
Angina pectoris  (IAGP)
Angioid streaks of the fundus  (IAGP)
Anteverted nares  (IAGP)
Aortic aneurysm  (IAGP)
Aplasia/Hypoplasia of the abdominal wall musculature  (IAGP)
Arterial rupture  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Beaking of vertebral bodies  (IAGP)
Bell-shaped thorax  (IAGP)
Bifid uvula  (IAGP)
Bilateral talipes equinovarus  (IAGP)
Bipartite calcaneus  (IAGP)
Blue sclerae  (IAGP)
Broad foot  (IAGP)
Broad ribs  (IAGP)
Broad thumb  (IAGP)
Bronchomalacia  (IAGP)
Bruising susceptibility  (IAGP)
Camptodactyly of finger  (IAGP)
Cataract  (IAGP)
Cervical kyphosis  (IAGP)
Choroidal neovascularization  (IAGP)
Civatte bodies  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Coarse hair  (IAGP)
Conductive hearing impairment  (IAGP)
Congestive heart failure  (IAGP)
Contracture of the proximal interphalangeal joint of the 2nd finger  (IAGP)
Contracture of the proximal interphalangeal joint of the 3rd finger  (IAGP)
Corneal opacity  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Coxa valga  (IAGP)
Coxa vara  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous syndactyly  (IAGP)
Cutis laxa  (IAGP)
Decreased DLCO  (IAGP)
Decreased palmar creases  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Diaphragmatic eventration  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Dislocated wrist  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Downturned corners of mouth  (IAGP)
Elbow dislocation  (IAGP)
Elbow flexion contracture  (IAGP)
Epicanthus  (IAGP)
Epiphyseal dysplasia  (IAGP)
Fetal onset  (IAGP)
Flared metaphysis  (IAGP)
Flat acetabular roof  (IAGP)
Flat face  (IAGP)
Frontal bossing  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Genu recurvatum  (IAGP)
Genu varum  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Hip dislocation  (IAGP)
Hirsutism  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the capital femoral epiphysis  (IAGP)
Hypoplastic cervical vertebrae  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intermittent claudication  (IAGP)
Intrauterine growth retardation  (IAGP)
J-shaped sella turcica  (IAGP)
Joint dislocation  (IAGP)
Joint hypermobility  (IAGP)
Knee dislocation  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Lumbar hyperlordosis  (IAGP)
Macular degeneration  (IAGP)
Malar flattening  (IAGP)
Metaphyseal widening  (IAGP)
Metatarsus adductus  (IAGP)
Microcephaly  (IAGP)
Midface retrusion  (IAGP)
Mitral stenosis  (IAGP)
Mitral valve prolapse  (IAGP)
Moderate intellectual disability  (IAGP)
Monkey wrench femoral neck  (IAGP)
Moon facies  (IAGP)
Multiple carpal ossification centers  (IAGP)
Myopia  (IAGP)
Nail dysplasia  (IAGP)
Narrow chest  (IAGP)
Neonatal respiratory distress  (IAGP)
Optic disc drusen  (IAGP)
Osteopenia  (IAGP)
Overlapping fingers  (IAGP)
Patellar dislocation  (IAGP)
Pathologic fracture  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Platyspondyly  (IAGP)
Pointed chin  (IAGP)
Porencephalic cyst  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Prolonged partial thromboplastin time  (IAGP)
Prominent forehead  (IAGP)
Prominent lesser trochanter  (IAGP)
Proptosis  (IAGP)
Radial head subluxation  (IAGP)
Radioulnar synostosis  (IAGP)
Reduced visual acuity  (IAGP)
Relative macrocephaly  (IAGP)
Renovascular hypertension  (IAGP)
Restrictive cardiomyopathy  (IAGP)
Retinal hemorrhage  (IAGP)
Retinal peau d'orange  (IAGP)
Round face  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe short stature  (IAGP)
Shallow orbits  (IAGP)
Short clavicles  (IAGP)
Short femoral neck  (IAGP)
Short long bone  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short nail  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short phalanx of finger  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Small hand  (IAGP)
Soft, doughy skin  (IAGP)
Sparse hair  (IAGP)
Spatulate thumbs  (IAGP)
Spina bifida occulta  (IAGP)
Spinal cord compression  (IAGP)
Spondylolysis  (IAGP)
Stroke  (IAGP)
Synophrys  (IAGP)
Talipes equinovalgus  (IAGP)
Talipes equinovarus  (IAGP)
Tapered humerus  (IAGP)
Thenar muscle atrophy  (IAGP)
Thick vermilion border  (IAGP)
Thrombocytopenia  (IAGP)
Toe clinodactyly  (IAGP)
Tracheal stenosis  (IAGP)
Tracheomalacia  (IAGP)
Truncal obesity  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vertebral fusion  (IAGP)
Visual impairment  (IAGP)
Weak pulse  (IAGP)
White oral mucosal macule  (IAGP)
Yellow papule  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Novel sequence variants in the human xylosyltransferase I gene and their role in diabetic nephropathy. Bahr C, etal., Diabet Med. 2006 Jun;23(6):681-4.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II. Gotting C, etal., J Mol Biol 2000 Dec 8;304(4):517-28.
4. Deoxyribozyme-mediated knockdown of xylosyltransferase-1 mRNA promotes axon growth in the adult rat spinal cord. Hurtado A, etal., Brain. 2008 Oct;131(Pt 10):2596-605. Epub 2008 Sep 2.
5. Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition Luo W and Wang Z, Sichuan Da Xue Xue Bao Yi Xue Ban. 2007 Nov;38(6):965-8.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. The xylosyltransferase I gene polymorphism c.343G>T (p.A125S) is a risk factor for diabetic nephropathy in type 1 diabetes. Schon S, etal., Diabetes Care. 2006 Oct;29(10):2295-9.
12. Modulation of xylosyltransferase I expression provides a mechanism regulating glycosaminoglycan chain synthesis during cartilage destruction and repair. Venkatesan N, etal., FASEB J. 2009 Mar;23(3):813-22. Epub 2008 Nov 10.
Additional References at PubMed
PMID:10383739   PMID:11087729   PMID:11814476   PMID:12477932   PMID:15294915   PMID:15461586   PMID:16133423   PMID:16164625   PMID:16225459   PMID:16569644   PMID:16571645   PMID:16778156  
PMID:17189265   PMID:17189266   PMID:17635914   PMID:17980567   PMID:18029348   PMID:18294457   PMID:18763033   PMID:19014925   PMID:19197251   PMID:19762916   PMID:20301292   PMID:20301308  
PMID:20301736   PMID:20379614   PMID:21150319   PMID:21873635   PMID:21882400   PMID:22479506   PMID:23223231   PMID:23322567   PMID:23333304   PMID:23747722   PMID:23982343   PMID:24581741  
PMID:25476526   PMID:25480529   PMID:25609649   PMID:26186194   PMID:26601923   PMID:27030147   PMID:27881841   PMID:28085539   PMID:28514442   PMID:29507755   PMID:29681470   PMID:30542210  
PMID:30554721   PMID:31677793   PMID:31973761   PMID:31973816   PMID:32295230   PMID:32920014   PMID:33609631   PMID:33637726   PMID:33662666   PMID:33961781   PMID:35013218   PMID:36871637  
PMID:40593736  


Genomics

Comparative Map Data
XYLT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381617,101,769 - 17,470,960 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1617,101,769 - 17,470,960 (-)Ensemblhg38GRCh38
GRCh371617,195,626 - 17,564,817 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361617,103,682 - 17,472,239 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341617,108,839 - 17,472,239NCBI
Celera1616,738,145 - 17,106,289 (-)NCBICelera
Cytogenetic Map16p12.3NCBI
HuRef1616,198,445 - 16,453,510 (-)NCBIHuRef
CHM1_11617,283,444 - 17,652,050 (-)NCBICHM1_1
T2T-CHM13v2.01617,108,779 - 17,478,203 (-)NCBIT2T-CHM13v2.0
Xylt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397116,980,214 - 117,266,853 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7116,980,214 - 117,272,803 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm387117,380,979 - 117,667,630 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7117,380,979 - 117,673,580 (+)Ensemblmm10GRCm38
MGSCv377124,524,493 - 124,811,144 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv367117,172,128 - 117,458,779 (+)NCBIMGSCv36mm8
MGSCv367107,018,054 - 107,306,726 (+)NCBIMGSCv36mm8
Celera7117,414,249 - 117,605,639 (+)NCBICelera
Cytogenetic Map7F1NCBI
cM Map762.93NCBI
Xylt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81181,078,222 - 181,361,047 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1181,078,222 - 181,361,047 (+)EnsemblGRCr8
mRatBN7.21171,643,925 - 171,929,774 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1171,643,925 - 171,926,783 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1179,953,621 - 180,236,961 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01187,139,927 - 187,423,261 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01179,864,825 - 180,152,899 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01186,939,698 - 187,264,758 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1187,149,453 - 187,261,632 (+)Ensemblrn6Rnor6.0
Rnor_5.01193,935,737 - 194,218,543 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41175,673,299 - 175,802,134 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1169,443,427 - 169,724,035 (+)NCBICelera
RGSC_v3.11175,826,610 - 175,941,380 (+)NCBI
Cytogenetic Map1q35NCBI
Xylt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554421,745,924 - 2,036,340 (+)Ensembl
ChiLan1.0NW_0049554421,787,338 - 2,042,523 (+)NCBIChiLan1.0ChiLan1.0
XYLT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21818,222,303 - 18,591,534 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11622,835,498 - 23,204,739 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01620,078,904 - 20,447,268 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11617,216,072 - 17,480,036 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1617,222,447 - 17,470,818 (-)EnsemblpanPan2panpan1.1
XYLT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1626,742,853 - 27,041,666 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl626,742,853 - 27,041,666 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha628,109,084 - 28,409,448 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0626,902,243 - 27,205,813 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl626,904,311 - 27,206,135 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1626,702,907 - 27,003,220 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0626,598,683 - 26,899,086 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0626,993,079 - 27,297,436 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Xylt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344116,089,001 - 116,250,901 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365014,187,213 - 4,331,783 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365014,164,714 - 4,337,604 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
XYLT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl327,158,878 - 27,492,762 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1327,158,438 - 27,492,629 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2327,756,168 - 27,960,491 (-)NCBISscrofa10.2Sscrofa10.2susScr3
XYLT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1516,197,982 - 16,566,893 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606813,399,882 - 13,778,851 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Xylt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247821,462,916 - 1,757,206 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247821,462,888 - 1,763,267 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Xylt1
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1283,978,598 - 84,264,793 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in XYLT1
593 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV005394107]|Desbuquois dysplasia 1 [RCV000550422]|Desbuquois dysplasia 2 [RCV002243615]|PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF [RCV000002643]|not provided [RCV001723535] Chr16:17470454 [GRCh38]
Chr16:17470454..17470455 [GRCh38]
Chr16:17564311 [GRCh37]
Chr16:16p12.3		 risk factor|benign
GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1 copy number loss See cases [RCV000050818] Chr16:14816348..18047194 [GRCh38]
Chr16:14910205..18141051 [GRCh37]
Chr16:14817706..18048552 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1 copy number loss See cases [RCV000050970] Chr16:14816348..18658403 [GRCh38]
Chr16:14910205..18669725 [GRCh37]
Chr16:14817706..18577226 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3 copy number gain See cases [RCV000050601] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050377]|See cases [RCV000050377] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15050263-18212997)x3 copy number gain See cases [RCV000051399] Chr16:15050263..18212997 [GRCh38]
Chr16:15144120..18306854 [GRCh37]
Chr16:15051621..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3 copy number gain See cases [RCV000051353] Chr16:14609647..18765817 [GRCh38]
Chr16:14703504..18777139 [GRCh37]
Chr16:14611005..18684640 [NCBI36]
Chr16:16p13.12-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18658403)x3 copy number gain See cases [RCV000051141] Chr16:15457445..18658403 [GRCh38]
Chr16:15551302..18669725 [GRCh37]
Chr16:15458803..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15140576-18658403)x1 copy number loss See cases [RCV000051057] Chr16:15140576..18658403 [GRCh38]
Chr16:15234433..18669725 [GRCh37]
Chr16:15141934..18577226 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14823949-18055828)x1 copy number loss See cases [RCV000052487] Chr16:14823949..18055828 [GRCh38]
Chr16:14917806..18149685 [GRCh37]
Chr16:14825307..18057186 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15310395-18213149)x1 copy number loss See cases [RCV000052512] Chr16:15310395..18213149 [GRCh38]
Chr16:15404252..18307006 [GRCh37]
Chr16:15311753..18214507 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x3 copy number gain See cases [RCV000052515] Chr16:15434653..18055828 [GRCh38]
Chr16:15528510..18149685 [GRCh37]
Chr16:15436011..18057186 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x1 copy number loss See cases [RCV000052516] Chr16:15434653..18055828 [GRCh38]
Chr16:15528510..18149685 [GRCh37]
Chr16:15436011..18057186 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:16450841-18203371)x1 copy number loss See cases [RCV000052518] Chr16:16450841..18203371 [GRCh38]
Chr16:16544698..18297228 [GRCh37]
Chr16:16452199..18204729 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15060830-18212997)x3 copy number gain See cases [RCV000053093] Chr16:15060830..18212997 [GRCh38]
Chr16:15154687..18306854 [GRCh37]
Chr16:15062188..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15185940-18658544)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053094]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053094]|See cases [RCV000053094] Chr16:15185940..18658544 [GRCh38]
Chr16:15279797..18669866 [GRCh37]
Chr16:15187298..18577367 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 copy number gain See cases [RCV000053095] Chr16:15186140..18658403 [GRCh38]
Chr16:15279997..18669725 [GRCh37]
Chr16:15187498..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15457445-17169859)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053308]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053308]|See cases [RCV000053308] Chr16:15457445..17169859 [GRCh38]
Chr16:15551302..17263716 [GRCh37]
Chr16:15458803..17171217 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 copy number gain See cases [RCV000053096] Chr16:15186140..18620659 [GRCh38]
Chr16:15279997..18631981 [GRCh37]
Chr16:15187498..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15299037-18267893)x3 copy number gain See cases [RCV000053098] Chr16:15299037..18267893 [GRCh38]
Chr16:15392894..18361750 [GRCh37]
Chr16:15300395..18269251 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18620659)x3 copy number gain See cases [RCV000053099] Chr16:15310595..18620659 [GRCh38]
Chr16:15404452..18631981 [GRCh37]
Chr16:15311953..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15398460-18047194)x3 copy number gain See cases [RCV000053102] Chr16:15398460..18047194 [GRCh38]
Chr16:15492317..18141051 [GRCh37]
Chr16:15399818..18048552 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
NM_022166.3(XYLT1):c.2079C>T (p.Asp693=) single nucleotide variant Malignant melanoma [RCV000070999] Chr16:17127810 [GRCh38]
Chr16:17221667 [GRCh37]
Chr16:17129168 [NCBI36]
Chr16:16p12.3		 not provided
NM_022166.3(XYLT1):c.1924C>T (p.His642Tyr) single nucleotide variant Malignant melanoma [RCV000071000] Chr16:17134576 [GRCh38]
Chr16:17228433 [GRCh37]
Chr16:17135934 [NCBI36]
Chr16:16p12.3		 not provided
NM_022166.3(XYLT1):c.1009C>T (p.Arg337Cys) single nucleotide variant Malignant melanoma [RCV000071001] Chr16:17200559 [GRCh38]
Chr16:17294416 [GRCh37]
Chr16:17201917 [NCBI36]
Chr16:16p12.3		 not provided
NM_022166.4(XYLT1):c.1588-3C>T single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002490770]|Desbuquois dysplasia 1 [RCV000960539]|Desbuquois dysplasia 2 [RCV000115037]|XYLT1-related disorder [RCV004757128]|not provided [RCV001553443] Chr16:17138534 [GRCh38]
Chr16:17232391 [GRCh37]
Chr16:16p12.3		 pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_022166.4(XYLT1):c.1441C>T (p.Arg481Trp) single nucleotide variant Desbuquois dysplasia 2 [RCV000115033] Chr16:17141299 [GRCh38]
Chr16:17235156 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) single nucleotide variant Desbuquois dysplasia 1 [RCV001227279]|Desbuquois dysplasia 2 [RCV000115034] Chr16:17134708 [GRCh38]
Chr16:17228565 [GRCh37]
Chr16:16p12.3		 pathogenic|uncertain significance
NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter) single nucleotide variant Desbuquois dysplasia 1 [RCV003495110]|Desbuquois dysplasia 2 [RCV000115035] Chr16:17259462 [GRCh38]
Chr16:17353319 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.276dup (p.Pro93fs) duplication Desbuquois dysplasia 2 [RCV000115036] Chr16:17470520..17470521 [GRCh38]
Chr16:17564377..17564378 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.1290-2A>C single nucleotide variant Desbuquois dysplasia 2 [RCV000115038] Chr16:17158911 [GRCh38]
Chr16:17252768 [GRCh37]
Chr16:16p12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15458733-18520588)x3 copy number gain not provided [RCV002292936] Chr16:15458733..18520588 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_022166.4(XYLT1):c.913+23928C>A single nucleotide variant Desbuquois dysplasia 2 [RCV001290302] Chr16:17235060 [GRCh38]
Chr16:17328917 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3 copy number gain See cases [RCV000050377] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:15458803..18048552 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:16633361-17879988)x3 copy number gain See cases [RCV000515553] Chr16:16633361..17879988 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic|likely benign
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x1 copy number loss See cases [RCV000135502] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p12.3(chr16:16861505-17368530)x3 copy number gain See cases [RCV000136587] Chr16:16861505..17368530 [GRCh38]
Chr16:16955362..17462387 [GRCh37]
Chr16:16862863..17369888 [NCBI36]
Chr16:16p12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15060830-18535437)x3 copy number gain See cases [RCV000136807] Chr16:15060830..18535437 [GRCh38]
Chr16:15154687..18546759 [GRCh37]
Chr16:15062188..18454260 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15261472-18768479)x3 copy number gain See cases [RCV000137451] Chr16:15261472..18768479 [GRCh38]
Chr16:15355329..18779801 [GRCh37]
Chr16:15262830..18687302 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3 copy number gain See cases [RCV000137543] Chr16:14783830..18680735 [GRCh38]
Chr16:14877687..18692057 [GRCh37]
Chr16:14785188..18599558 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18726698)x3 copy number gain See cases [RCV000137588] Chr16:15194583..18726698 [GRCh38]
Chr16:15288440..18738020 [GRCh37]
Chr16:15195941..18645521 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18783183)x3 copy number gain See cases [RCV000137700] Chr16:15186140..18783183 [GRCh38]
Chr16:15279997..18794505 [GRCh37]
Chr16:15187498..18702006 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18170423)x3 copy number gain See cases [RCV000137491] Chr16:15194583..18170423 [GRCh38]
Chr16:15288440..18264280 [GRCh37]
Chr16:15195941..18171781 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:16541781-18768479)x3 copy number gain See cases [RCV000137333] Chr16:16541781..18768479 [GRCh38]
Chr16:16635638..18779801 [GRCh37]
Chr16:16543139..18687302 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic|uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18214016)x3 copy number gain See cases [RCV000137336] Chr16:15194583..18214016 [GRCh38]
Chr16:15288440..18307873 [GRCh37]
Chr16:15195941..18215374 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p12.3(chr16:16753846-18768479)x3 copy number gain See cases [RCV000138195] Chr16:16753846..18768479 [GRCh38]
Chr16:16847703..18779801 [GRCh37]
Chr16:16755204..18687302 [NCBI36]
Chr16:16p12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18236409)x3 copy number gain See cases [RCV000138003] Chr16:15194583..18236409 [GRCh38]
Chr16:15288440..18330266 [GRCh37]
Chr16:15195941..18237767 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18212997)x1 copy number loss See cases [RCV000138168] Chr16:15398450..18212997 [GRCh38]
Chr16:15492307..18306854 [GRCh37]
Chr16:15399808..18214355 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh38/hg38 16p12.3(chr16:17169800-17966460)x3 copy number gain See cases [RCV000137907] Chr16:17169800..17966460 [GRCh38]
Chr16:17263657..18060317 [GRCh37]
Chr16:17171158..17967818 [NCBI36]
Chr16:16p12.3		 likely benign
GRCh38/hg38 16p13.11-12.3(chr16:15457205-18212984)x1 copy number loss See cases [RCV000138825] Chr16:15457205..18212984 [GRCh38]
Chr16:15551062..18306841 [GRCh37]
Chr16:15458563..18214342 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3 copy number gain See cases [RCV000138254] Chr16:14783830..18768479 [GRCh38]
Chr16:14877687..18779801 [GRCh37]
Chr16:14785188..18687302 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18768479)x3 copy number gain See cases [RCV000138546] Chr16:15186140..18768479 [GRCh38]
Chr16:15279997..18779801 [GRCh37]
Chr16:15187498..18687302 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p12.3(chr16:17228304-17601077)x1 copy number loss See cases [RCV000139115] Chr16:17228304..17601077 [GRCh38]
Chr16:17322161..17694934 [GRCh37]
Chr16:17229662..17602435 [NCBI36]
Chr16:16p12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18535419)x3 copy number gain See cases [RCV000139051] Chr16:15184811..18535419 [GRCh38]
Chr16:15278668..18546741 [GRCh37]
Chr16:15186169..18454242 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18068310)x1 copy number loss See cases [RCV000139649] Chr16:15398450..18068310 [GRCh38]
Chr16:15492307..18162167 [GRCh37]
Chr16:15399808..18069668 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15128213-18577521)x3 copy number gain See cases [RCV000140646] Chr16:15128213..18577521 [GRCh38]
Chr16:15222070..18588843 [GRCh37]
Chr16:15129571..18496344 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18068310)x3 copy number gain See cases [RCV000140664] Chr16:15186140..18068310 [GRCh38]
Chr16:15279997..18162167 [GRCh37]
Chr16:15187498..18069668 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15325296-18078611)x3 copy number gain See cases [RCV000141667] Chr16:15325296..18078611 [GRCh38]
Chr16:15419153..18172468 [GRCh37]
Chr16:15326654..18079969 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15218552-18148856)x3 copy number gain See cases [RCV000142135] Chr16:15218552..18148856 [GRCh38]
Chr16:15312409..18242713 [GRCh37]
Chr16:15219910..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x1 copy number loss See cases [RCV000142529] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:15458803..18048552 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15223052-18148856)x3 copy number gain See cases [RCV000143416] Chr16:15223052..18148856 [GRCh38]
Chr16:15316909..18242713 [GRCh37]
Chr16:15224410..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18272881)x1 copy number loss See cases [RCV000143204] Chr16:15398450..18272881 [GRCh38]
Chr16:15492307..18366738 [GRCh37]
Chr16:15399808..18274239 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3 copy number gain See cases [RCV000143143] Chr16:14783830..18536926 [GRCh38]
Chr16:14877687..18548248 [GRCh37]
Chr16:14785188..18455749 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15222856-18148856)x3 copy number gain See cases [RCV000143165] Chr16:15222856..18148856 [GRCh38]
Chr16:15316713..18242713 [GRCh37]
Chr16:15224214..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 copy number gain See cases [RCV000148077] Chr16:15186140..18620659 [GRCh38]
Chr16:15279997..18631981 [GRCh37]
Chr16:15187498..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3 copy number gain See cases [RCV000148208] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 copy number gain See cases [RCV000148146] Chr16:15186140..18658403 [GRCh38]
Chr16:15279997..18669725 [GRCh37]
Chr16:15187498..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15489920-18141051)x3 copy number gain See cases [RCV000240098] Chr16:15489920..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1 copy number loss See cases [RCV000239901] Chr16:15494600..18141051 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3 copy number gain See cases [RCV000240491] Chr16:15507184..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
NM_022166.4(XYLT1):c.62del (p.Ala21fs) deletion not provided [RCV000368408] Chr16:17470735 [GRCh38]
Chr16:17564592 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.737C>T (p.Ser246Phe) single nucleotide variant Inborn genetic diseases [RCV003244479] Chr16:17259164 [GRCh38]
Chr16:17353021 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15457516-17564653)x3 copy number gain not provided [RCV002292935] Chr16:15457516..17564653 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer) duplication Desbuquois dysplasia 2 [RCV000758147]|not provided [RCV000489929] Chr16:17138385..17138386 [GRCh38]
Chr16:17232242..17232243 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.746C>A (p.Thr249Asn) single nucleotide variant Desbuquois dysplasia 1 [RCV002531035]|Inborn genetic diseases [RCV002531034]|not provided [RCV000592426] Chr16:17259155 [GRCh38]
Chr16:17353012 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2122_2123del (p.Ala708fs) deletion Desbuquois dysplasia 1 [RCV005091246]|not provided [RCV000522741] Chr16:17127766..17127767 [GRCh38]
Chr16:17221623..17221624 [GRCh37]
Chr16:16p12.3		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15499057-18264837)x4 copy number gain See cases [RCV000598971] Chr16:15499057..18264837 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_022166.3(XYLT1):c.2116A>G (p.Asn706Asp) single nucleotide variant not specified [RCV000414237] Chr16:17127773 [GRCh38]
Chr16:17221630 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.913+161A>G single nucleotide variant not provided [RCV001565541] Chr16:17258827 [GRCh38]
Chr16:17352684 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp) single nucleotide variant Desbuquois dysplasia 1 [RCV000888814]|Inborn genetic diseases [RCV002523958]|XYLT1-related disorder [RCV003932534]|not specified [RCV000413146] Chr16:17259480 [GRCh38]
Chr16:17353337 [GRCh37]
Chr16:16p12.3		 benign|likely benign|uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18242712)x3 copy number gain See cases [RCV000449425] Chr16:15316618..18242712 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15422920-18181971)x1 copy number loss See cases [RCV000449218] Chr16:15422920..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3 copy number gain See cases [RCV000447011] Chr16:15316618..18185466 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15193982-18172468)x3 copy number gain See cases [RCV000447066] Chr16:15193982..18172468 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p12.3(chr16:16895835-17505309)x3 copy number gain See cases [RCV000447157] Chr16:16895835..17505309 [GRCh37]
Chr16:16p12.3		 likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15193982-18191725)x3 copy number gain See cases [RCV000448998] Chr16:15193982..18191725 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:16327171-17233575)x3 copy number gain See cases [RCV000447794] Chr16:16327171..17233575 [GRCh37]
Chr16:16p13.11-12.3		 likely benign
NC_000016.9:g.(?_15180601)_(18778866_?)dup duplication Schizophrenia [RCV000416672] Chr16:15180601..18778866 [GRCh37]
Chr16:15088102..18686367 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3 copy number gain not provided [RCV000509488] Chr16:15507184..18141051 [GRCh37]
Chr16:16p13.11-12.3		 not provided
GRCh37/hg19 16p13.11-12.3(chr16:15481920-18181971)x1 copy number loss See cases [RCV000511758] Chr16:15481920..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_022166.4(XYLT1):c.2275C>T (p.Leu759Phe) single nucleotide variant Inborn genetic diseases [RCV003257809] Chr16:17117928 [GRCh38]
Chr16:17211785 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_022166.4(XYLT1):c.1984C>T (p.Arg662Trp) single nucleotide variant Inborn genetic diseases [RCV003280704] Chr16:17134516 [GRCh38]
Chr16:17228373 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
NM_022166.4(XYLT1):c.1272G>A (p.Ala424=) single nucleotide variant Desbuquois dysplasia 1 [RCV000535388]|not provided [RCV004546519] Chr16:17198229 [GRCh38]
Chr16:17292086 [GRCh37]
Chr16:16p12.3		 benign|likely benign
NM_022166.4(XYLT1):c.1217G>A (p.Arg406Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV000652126] Chr16:17198284 [GRCh38]
Chr16:17292141 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2007G>A (p.Thr669=) single nucleotide variant Desbuquois dysplasia 1 [RCV000652127]|XYLT1-related disorder [RCV003905770] Chr16:17134493 [GRCh38]
Chr16:17228350 [GRCh37]
Chr16:16p12.3		 likely benign
NC_000016.10:g.(?_17108675)_(17470816_?)del deletion Desbuquois dysplasia 1 [RCV000652128] Chr16:17108675..17470816 [GRCh38]
Chr16:17202532..17564673 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.1765-3C>T single nucleotide variant Desbuquois dysplasia 1 [RCV001499747]|not provided [RCV000597028] Chr16:17134738 [GRCh38]
Chr16:17228595 [GRCh37]
Chr16:16p12.3		 likely benign|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_022166.4(XYLT1):c.2560G>T (p.Glu854Ter) single nucleotide variant Inborn genetic diseases [RCV000623221] Chr16:17109015 [GRCh38]
Chr16:17202872 [GRCh37]
Chr16:16p12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3 copy number gain not provided [RCV000683773] Chr16:15316618..18185466 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15509406-18181971)x3 copy number gain not provided [RCV000683781] Chr16:15509406..18181971 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18181971)x1 copy number loss not provided [RCV000683772] Chr16:15316618..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15318664-18778064)x1 copy number loss not provided [RCV000683774] Chr16:15318664..18778064 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV000699749]|XYLT1-related disorder [RCV003907952]|not provided [RCV001771984] Chr16:17470643 [GRCh38]
Chr16:17564500 [GRCh37]
Chr16:16p12.3		 likely benign|uncertain significance
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000765257]|Desbuquois dysplasia 1 [RCV000694844] Chr16:17138363 [GRCh38]
Chr16:17232220 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.830G>T (p.Arg277Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV000694129] Chr16:17259071 [GRCh38]
Chr16:17352928 [GRCh37]
Chr16:16p12.3		 uncertain significance
NW_019805500.1:g.472169CCG[(100-833)] microsatellite Desbuquois dysplasia 2 [RCV000758144]   pathogenic
NM_022166.4(XYLT1):c.281_306del (p.Gln94fs) deletion Desbuquois dysplasia 2 [RCV000758145] Chr16:17470491..17470516 [GRCh38]
Chr16:17564348..17564373 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.1290-1G>A single nucleotide variant Desbuquois dysplasia 2 [RCV000758146] Chr16:17158910 [GRCh38]
Chr16:17252767 [GRCh37]
Chr16:16p12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754173] Chr16:15085515..18775195 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754174] Chr16:15279737..18291544 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
NM_022166.4(XYLT1):c.1764+175_1764+191dup duplication not provided [RCV001707205] Chr16:17138163..17138164 [GRCh38]
Chr16:17232020..17232021 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1086+44G>A single nucleotide variant Desbuquois dysplasia 2 [RCV002243354]|not provided [RCV001648331] Chr16:17200438 [GRCh38]
Chr16:17294295 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.319G>T (p.Gly107Ter) single nucleotide variant Desbuquois dysplasia 2 [RCV000758143] Chr16:17470478 [GRCh38]
Chr16:17564335 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.1086+255dup duplication not provided [RCV001691061] Chr16:17200217..17200218 [GRCh38]
Chr16:17294074..17294075 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.707C>T (p.Pro236Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV001066502] Chr16:17259194 [GRCh38]
Chr16:17353051 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15259141-18361376)x3 copy number gain not provided [RCV000751597] Chr16:15259141..18361376 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15469950-18172311)x3 copy number gain not provided [RCV000751599] Chr16:15469950..18172311 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
NM_022166.4(XYLT1):c.1743G>A (p.Pro581=) single nucleotide variant Desbuquois dysplasia 1 [RCV000973807]|XYLT1-related disorder [RCV004757357]|not provided [RCV002245793] Chr16:17138376 [GRCh38]
Chr16:17232233 [GRCh37]
Chr16:16p12.3		 benign|likely benign
NM_022166.4(XYLT1):c.1704C>T (p.Ile568=) single nucleotide variant Desbuquois dysplasia 1 [RCV000967693]|not provided [RCV003222181] Chr16:17138415 [GRCh38]
Chr16:17232272 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2370C>A (p.Val790=) single nucleotide variant Desbuquois dysplasia 1 [RCV000959254]|not provided [RCV004716643] Chr16:17117833 [GRCh38]
Chr16:17211690 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2127G>C (p.Val709=) single nucleotide variant Desbuquois dysplasia 1 [RCV001433727] Chr16:17127762 [GRCh38]
Chr16:17221619 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.606A>G (p.Lys202=) single nucleotide variant Desbuquois dysplasia 1 [RCV000970560]|not provided [RCV004715364] Chr16:17259295 [GRCh38]
Chr16:17353152 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1918G>A (p.Gly640Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV000966430] Chr16:17134582 [GRCh38]
Chr16:17228439 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2006C>T (p.Thr669Met) single nucleotide variant not provided [RCV000996235] Chr16:17134494 [GRCh38]
Chr16:17228351 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1216C>T (p.Arg406Trp) single nucleotide variant Desbuquois dysplasia 1 [RCV001065965]|Desbuquois dysplasia 2 [RCV001334143]|not provided [RCV000996236] Chr16:17198285 [GRCh38]
Chr16:17292142 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.353C>T (p.Ala118Val) single nucleotide variant Desbuquois dysplasia 1 [RCV001061956] Chr16:17470444 [GRCh38]
Chr16:17564301 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.811G>A (p.Ala271Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV001056816] Chr16:17259090 [GRCh38]
Chr16:17352947 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.434A>C (p.Lys145Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV001050889]|Inborn genetic diseases [RCV004963039] Chr16:17259467 [GRCh38]
Chr16:17353324 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.426G>A (p.Pro142=) single nucleotide variant not provided [RCV000906673] Chr16:17259475 [GRCh38]
Chr16:17353332 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2224-4T>A single nucleotide variant Desbuquois dysplasia 1 [RCV000981566] Chr16:17117983 [GRCh38]
Chr16:17211840 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1716C>T (p.Cys572=) single nucleotide variant Desbuquois dysplasia 1 [RCV000907124]|XYLT1-related disorder [RCV003950674]|not provided [RCV004705904] Chr16:17138403 [GRCh38]
Chr16:17232260 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1588-28_1588-3dup duplication Desbuquois dysplasia 1 [RCV001521180] Chr16:17138533..17138534 [GRCh38]
Chr16:17232390..17232391 [GRCh37]
Chr16:16p12.3		 benign
GRCh37/hg19 16p13.11-12.3(chr16:15548310-17988303) copy number loss not provided [RCV000767583] Chr16:15548310..17988303 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_022166.4(XYLT1):c.1299C>A (p.Asp433Glu) single nucleotide variant Desbuquois dysplasia 1 [RCV000967660]|Inborn genetic diseases [RCV004962972]|XYLT1-related disorder [RCV004757350] Chr16:17158900 [GRCh38]
Chr16:17252757 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys) single nucleotide variant Desbuquois dysplasia 1 [RCV000820763]|not provided [RCV004693389] Chr16:17134510 [GRCh38]
Chr16:17228367 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15551302-18306854)x3 copy number gain not provided [RCV000856643] Chr16:15551302..18306854 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_022166.4(XYLT1):c.2656G>T (p.Ala886Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV000960508]|not provided [RCV004715360] Chr16:17108919 [GRCh38]
Chr16:17202776 [GRCh37]
Chr16:16p12.3		 benign
GRCh37/hg19 16p13.11-12.3(chr16:15493046-18157612)x3 copy number gain See cases [RCV000790572] Chr16:15493046..18157612 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_022166.4(XYLT1):c.1813A>T (p.Asn605Tyr) single nucleotide variant Desbuquois dysplasia 1 [RCV000805928]|Inborn genetic diseases [RCV003307484] Chr16:17134687 [GRCh38]
Chr16:17228544 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV000808439] Chr16:17134518 [GRCh38]
Chr16:17228375 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.139G>C (p.Gly47Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV000791998]|Inborn genetic diseases [RCV002536935]|not provided [RCV004692241] Chr16:17470658 [GRCh38]
Chr16:17564515 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1371-5C>T single nucleotide variant Desbuquois dysplasia 1 [RCV001481347] Chr16:17141374 [GRCh38]
Chr16:17235231 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2655C>T (p.Pro885=) single nucleotide variant Desbuquois dysplasia 1 [RCV001519013]|Desbuquois dysplasia 2 [RCV002245709]|not provided [RCV000844578] Chr16:17108920 [GRCh38]
Chr16:17202777 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.234AGG[6] (p.Gly90dup) microsatellite Desbuquois dysplasia 1 [RCV001484666] Chr16:17470548..17470549 [GRCh38]
Chr16:17564405..17564406 [GRCh37]
Chr16:16p12.3		 likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15416364-18231275)x1 copy number loss not provided [RCV001006778] Chr16:15416364..18231275 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p12.3(chr16:16837613-17575250)x1 copy number loss not provided [RCV001006783] Chr16:16837613..17575250 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.416C>T (p.Ser139Phe) single nucleotide variant Desbuquois dysplasia 1 [RCV001067297] Chr16:17259485 [GRCh38]
Chr16:17353342 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1321C>T (p.Arg441Ter) single nucleotide variant Desbuquois dysplasia 1 [RCV001231569] Chr16:17158878 [GRCh38]
Chr16:17252735 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.1615A>G (p.Ser539Gly) single nucleotide variant Desbuquois dysplasia 1 [RCV001206277] Chr16:17138504 [GRCh38]
Chr16:17232361 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p12.3(chr16:17193610-17469499)x4 copy number gain not provided [RCV000845633] Chr16:17193610..17469499 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.913+29G>C single nucleotide variant not provided [RCV001638658] Chr16:17258959 [GRCh38]
Chr16:17352816 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1289+185G>C single nucleotide variant not provided [RCV001636242] Chr16:17198027 [GRCh38]
Chr16:17291884 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1086+255_1086+256dup duplication not provided [RCV001561878] Chr16:17200217..17200218 [GRCh38]
Chr16:17294074..17294075 [GRCh37]
Chr16:16p12.3		 likely benign
NC_000016.10:g.17470961G>A single nucleotide variant not provided [RCV001721693] Chr16:17470961 [GRCh38]
Chr16:17564818 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1765-215_1765-212dup duplication not provided [RCV001689101] Chr16:17134946..17134947 [GRCh38]
Chr16:17228803..17228804 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2027+240C>G single nucleotide variant not provided [RCV001656693] Chr16:17134233 [GRCh38]
Chr16:17228090 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1087-292T>C single nucleotide variant not provided [RCV001587713] Chr16:17198706 [GRCh38]
Chr16:17292563 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1764+307_1764+308insTCT insertion not provided [RCV001656793] Chr16:17138047..17138048 [GRCh38]
Chr16:17231904..17231905 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2226C>T (p.Val742=) single nucleotide variant Desbuquois dysplasia 1 [RCV000887884]|not provided [RCV005411601] Chr16:17117977 [GRCh38]
Chr16:17211834 [GRCh37]
Chr16:16p12.3		 benign|likely benign
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV000953027]|XYLT1-related disorder [RCV003925966]|not provided [RCV001729754]|not specified [RCV001729755] Chr16:17198347 [GRCh38]
Chr16:17292204 [GRCh37]
Chr16:16p12.3		 benign|likely benign
NM_022166.4(XYLT1):c.1266G>A (p.Leu422=) single nucleotide variant not provided [RCV000885509] Chr16:17198235 [GRCh38]
Chr16:17292092 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1602G>A (p.Thr534=) single nucleotide variant Desbuquois dysplasia 1 [RCV000892791]|XYLT1-related disorder [RCV004757304]|not provided [RCV004705885] Chr16:17138517 [GRCh38]
Chr16:17232374 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1686G>A (p.Lys562=) single nucleotide variant Desbuquois dysplasia 1 [RCV000978534] Chr16:17138433 [GRCh38]
Chr16:17232290 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1742C>T (p.Pro581Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV000887717]|not provided [RCV004705876] Chr16:17138377 [GRCh38]
Chr16:17232234 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1626C>T (p.Cys542=) single nucleotide variant Desbuquois dysplasia 1 [RCV000971195]|XYLT1-related disorder [RCV003972912] Chr16:17138493 [GRCh38]
Chr16:17232350 [GRCh37]
Chr16:16p12.3		 benign|likely benign
NM_022166.4(XYLT1):c.1086+4A>G single nucleotide variant Desbuquois dysplasia 1 [RCV001235489] Chr16:17200478 [GRCh38]
Chr16:17294335 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.4G>A (p.Val2Met) single nucleotide variant Desbuquois dysplasia 1 [RCV001222863] Chr16:17470793 [GRCh38]
Chr16:17564650 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1 copy number loss 16p13.11 microdeletion syndrome [RCV001824940]|not provided [RCV001249387] Chr16:15494600..18141051 [GRCh37]
Chr16:16p13.11-12.3		 no classifications from unflagged records|not provided
NM_022166.4(XYLT1):c.615A>G (p.Gly205=) single nucleotide variant Desbuquois dysplasia 1 [RCV000890279] Chr16:17259286 [GRCh38]
Chr16:17353143 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.307G>A (p.Gly103Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV000957382]|not provided [RCV001796331] Chr16:17470490 [GRCh38]
Chr16:17564347 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2223+10C>T single nucleotide variant Desbuquois dysplasia 1 [RCV001417096] Chr16:17127656 [GRCh38]
Chr16:17221513 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1906G>A (p.Asp636Asn) single nucleotide variant not provided [RCV003480168] Chr16:17134594 [GRCh38]
Chr16:17228451 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.364-79GAAA[2] microsatellite not provided [RCV001671807] Chr16:17358118..17358121 [GRCh38]
Chr16:17451975..17451978 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2558-91C>T single nucleotide variant not provided [RCV001597602] Chr16:17109108 [GRCh38]
Chr16:17202965 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.364-95dup duplication not provided [RCV001608687] Chr16:17358130..17358131 [GRCh38]
Chr16:17451987..17451988 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.913+281C>T single nucleotide variant not provided [RCV001594686] Chr16:17258707 [GRCh38]
Chr16:17352564 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1289+271A>G single nucleotide variant not provided [RCV001659200] Chr16:17197941 [GRCh38]
Chr16:17291798 [GRCh37]
Chr16:16p12.3		 benign
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_022166.4(XYLT1):c.1764+125_1764+128del microsatellite not provided [RCV001695162] Chr16:17138227..17138230 [GRCh38]
Chr16:17232084..17232087 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.-5C>G single nucleotide variant not provided [RCV001616891] Chr16:17470801 [GRCh38]
Chr16:17564658 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2223+100G>A single nucleotide variant not provided [RCV001684553] Chr16:17127566 [GRCh38]
Chr16:17221423 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2223+215T>A single nucleotide variant not provided [RCV001679027] Chr16:17127451 [GRCh38]
Chr16:17221308 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2224-146C>A single nucleotide variant not provided [RCV001682263] Chr16:17118125 [GRCh38]
Chr16:17211982 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2557+187G>A single nucleotide variant not provided [RCV001614667] Chr16:17117459 [GRCh38]
Chr16:17211316 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2028-37A>C single nucleotide variant Desbuquois dysplasia 2 [RCV002243356]|not provided [RCV001648734] Chr16:17127898 [GRCh38]
Chr16:17221755 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2557+269T>C single nucleotide variant not provided [RCV001713581] Chr16:17117377 [GRCh38]
Chr16:17211234 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.742G>A (p.Glu248Lys) single nucleotide variant Desbuquois dysplasia 1 [RCV001069661] Chr16:17259159 [GRCh38]
Chr16:17353016 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1747G>A (p.Asp583Asn) single nucleotide variant Desbuquois dysplasia 1 [RCV001232492] Chr16:17138372 [GRCh38]
Chr16:17232229 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1211G>A (p.Ser404Asn) single nucleotide variant Desbuquois dysplasia 1 [RCV001204198]|Inborn genetic diseases [RCV004033605] Chr16:17198290 [GRCh38]
Chr16:17292147 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15481920-18164698)x3 copy number gain not provided [RCV001259257] Chr16:15481920..18164698 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15375911-18198455)x1 copy number loss not provided [RCV001259258] Chr16:15375911..18198455 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18770833) copy number gain Autism [RCV002280692] Chr16:15316618..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15193982-18770833)x3 copy number gain not provided [RCV001259255] Chr16:15193982..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18164698)x3 copy number gain not provided [RCV001259256] Chr16:15316618..18164698 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_022166.4(XYLT1):c.1669C>T (p.Arg557Cys) single nucleotide variant Desbuquois dysplasia 1 [RCV001964346]|Inborn genetic diseases [RCV003264350] Chr16:17138450 [GRCh38]
Chr16:17232307 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2806A>T (p.Thr936Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV001305527] Chr16:17108769 [GRCh38]
Chr16:17202626 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.200_208dup (p.Arg67_Asp69dup) duplication Desbuquois dysplasia 1 [RCV001316912] Chr16:17470588..17470589 [GRCh38]
Chr16:17564445..17564446 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.88C>G (p.Leu30Val) single nucleotide variant Desbuquois dysplasia 1 [RCV001307902] Chr16:17470709 [GRCh38]
Chr16:17564566 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2766G>A (p.Thr922=) single nucleotide variant Desbuquois dysplasia 1 [RCV001337159] Chr16:17108809 [GRCh38]
Chr16:17202666 [GRCh37]
Chr16:16p12.3		 likely benign|uncertain significance
NM_022166.4(XYLT1):c.1764+3G>A single nucleotide variant Desbuquois dysplasia 1 [RCV001325694]|Inborn genetic diseases [RCV002546137] Chr16:17138352 [GRCh38]
Chr16:17232209 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.293G>T (p.Arg98Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV001343306] Chr16:17470504 [GRCh38]
Chr16:17564361 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2809G>A (p.Ala937Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV001306041]|Inborn genetic diseases [RCV002543151] Chr16:17108766 [GRCh38]
Chr16:17202623 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.927G>C (p.Lys309Asn) single nucleotide variant Desbuquois dysplasia 1 [RCV001296667] Chr16:17200641 [GRCh38]
Chr16:17294498 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.910G>A (p.Glu304Lys) single nucleotide variant Inborn genetic diseases [RCV004685888] Chr16:17258991 [GRCh38]
Chr16:17352848 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.436G>A (p.Val146Met) single nucleotide variant Desbuquois dysplasia 1 [RCV001339191] Chr16:17259465 [GRCh38]
Chr16:17353322 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1939G>A (p.Val647Met) single nucleotide variant Desbuquois dysplasia 1 [RCV001337927] Chr16:17134561 [GRCh38]
Chr16:17228418 [GRCh37]
Chr16:16p12.3		 uncertain significance
NC_000016.9:g.(?_17451859)_(17451917_?)del deletion Desbuquois dysplasia 1 [RCV001374278] Chr16:17451859..17451917 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1953G>A (p.Leu651=) single nucleotide variant Desbuquois dysplasia 1 [RCV001396767] Chr16:17134547 [GRCh38]
Chr16:17228404 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1191C>G (p.Leu397=) single nucleotide variant Desbuquois dysplasia 1 [RCV001433198] Chr16:17198310 [GRCh38]
Chr16:17292167 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.807C>T (p.Ser269=) single nucleotide variant Desbuquois dysplasia 1 [RCV001422495] Chr16:17259094 [GRCh38]
Chr16:17352951 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2162C>T (p.Pro721Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV005103518]|Inborn genetic diseases [RCV004685884] Chr16:17127727 [GRCh38]
Chr16:17221584 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.182C>T (p.Pro61Leu) single nucleotide variant Inborn genetic diseases [RCV004685886] Chr16:17470615 [GRCh38]
Chr16:17564472 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1416C>G (p.Asp472Glu) single nucleotide variant Desbuquois dysplasia 1 [RCV001295114]|Inborn genetic diseases [RCV004967956] Chr16:17141324 [GRCh38]
Chr16:17235181 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1730A>G (p.Asn577Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV001319858] Chr16:17138389 [GRCh38]
Chr16:17232246 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2504C>T (p.Thr835Ile) single nucleotide variant Desbuquois dysplasia 1 [RCV001344637] Chr16:17117699 [GRCh38]
Chr16:17211556 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.337C>T (p.Arg113Trp) single nucleotide variant Desbuquois dysplasia 1 [RCV001319986] Chr16:17470460 [GRCh38]
Chr16:17564317 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1358G>A (p.Arg453Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV001371178] Chr16:17158841 [GRCh38]
Chr16:17252698 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1429C>T (p.Arg477Cys) single nucleotide variant Desbuquois dysplasia 1 [RCV001322964]|not provided [RCV001529171] Chr16:17141311 [GRCh38]
Chr16:17235168 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1936G>A (p.Asp646Asn) single nucleotide variant Desbuquois dysplasia 1 [RCV001365078] Chr16:17134564 [GRCh38]
Chr16:17228421 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.161G>A (p.Gly54Glu) single nucleotide variant Desbuquois dysplasia 1 [RCV001345975] Chr16:17470636 [GRCh38]
Chr16:17564493 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1970G>A (p.Arg657His) single nucleotide variant Desbuquois dysplasia 1 [RCV001327483] Chr16:17134530 [GRCh38]
Chr16:17228387 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.173C>T (p.Pro58Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV001320585]|Inborn genetic diseases [RCV004035009] Chr16:17470624 [GRCh38]
Chr16:17564481 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1237G>A (p.Asp413Asn) single nucleotide variant Desbuquois dysplasia 1 [RCV001320713]|Inborn genetic diseases [RCV004035016] Chr16:17198264 [GRCh38]
Chr16:17292121 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.256GGA[7] (p.Gly89_Gly90dup) microsatellite Desbuquois dysplasia 1 [RCV001349829] Chr16:17470526..17470527 [GRCh38]
Chr16:17564383..17564384 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1689_1692dup (p.Tyr565fs) duplication Desbuquois dysplasia 2 [RCV001334144] Chr16:17138426..17138427 [GRCh38]
Chr16:17232283..17232284 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.1310C>T (p.Ala437Val) single nucleotide variant Desbuquois dysplasia 1 [RCV001373101] Chr16:17158889 [GRCh38]
Chr16:17252746 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2306T>C (p.Met769Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV001299710] Chr16:17117897 [GRCh38]
Chr16:17211754 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2162C>A (p.Pro721Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV001319617]|Inborn genetic diseases [RCV004686659] Chr16:17127727 [GRCh38]
Chr16:17221584 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.412T>C (p.Phe138Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV001295802] Chr16:17259489 [GRCh38]
Chr16:17353346 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.262G>A (p.Gly88Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV001308525] Chr16:17470535 [GRCh38]
Chr16:17564392 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.848C>G (p.Thr283Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV001315518] Chr16:17259053 [GRCh38]
Chr16:17352910 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.346C>G (p.Leu116Val) single nucleotide variant Desbuquois dysplasia 1 [RCV001314149] Chr16:17470451 [GRCh38]
Chr16:17564308 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1588T>G (p.Ser530Ala) single nucleotide variant Desbuquois dysplasia 1 [RCV001366851] Chr16:17138531 [GRCh38]
Chr16:17232388 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.59C>T (p.Ala20Val) single nucleotide variant Desbuquois dysplasia 1 [RCV001368508]|XYLT1-related disorder [RCV003953692] Chr16:17470738 [GRCh38]
Chr16:17564595 [GRCh37]
Chr16:16p12.3		 likely benign|uncertain significance
NM_022166.4(XYLT1):c.1905C>T (p.Tyr635=) single nucleotide variant Desbuquois dysplasia 1 [RCV001422054]|XYLT1-related disorder [RCV003920919] Chr16:17134595 [GRCh38]
Chr16:17228452 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1252T>A (p.Phe418Ile) single nucleotide variant Desbuquois dysplasia 1 [RCV001368935] Chr16:17198249 [GRCh38]
Chr16:17292106 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.152T>C (p.Val51Ala) single nucleotide variant Desbuquois dysplasia 1 [RCV001369754]|Inborn genetic diseases [RCV002548625] Chr16:17470645 [GRCh38]
Chr16:17564502 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.246A>C (p.Gly82=) single nucleotide variant Desbuquois dysplasia 1 [RCV001450195] Chr16:17470551 [GRCh38]
Chr16:17564408 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2344G>A (p.Val782Ile) single nucleotide variant Desbuquois dysplasia 1 [RCV001295610] Chr16:17117859 [GRCh38]
Chr16:17211716 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2129G>A (p.Ser710Asn) single nucleotide variant Desbuquois dysplasia 1 [RCV001370594]|Inborn genetic diseases [RCV004968147] Chr16:17127760 [GRCh38]
Chr16:17221617 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.364-6C>T single nucleotide variant Desbuquois dysplasia 1 [RCV001394047] Chr16:17358056 [GRCh38]
Chr16:17451913 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1227G>A (p.Leu409=) single nucleotide variant Desbuquois dysplasia 1 [RCV001475107] Chr16:17198274 [GRCh38]
Chr16:17292131 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1629C>T (p.Asp543=) single nucleotide variant Desbuquois dysplasia 1 [RCV001435924] Chr16:17138490 [GRCh38]
Chr16:17232347 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.711T>A (p.Pro237=) single nucleotide variant Desbuquois dysplasia 1 [RCV001476006] Chr16:17259190 [GRCh38]
Chr16:17353047 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1935C>T (p.Ser645=) single nucleotide variant Desbuquois dysplasia 1 [RCV001516784] Chr16:17134565 [GRCh38]
Chr16:17228422 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2296C>G (p.Pro766Ala) single nucleotide variant Desbuquois dysplasia 1 [RCV001521948]|XYLT1-related disorder [RCV003940960]|not provided [RCV004716742] Chr16:17117907 [GRCh38]
Chr16:17211764 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2515G>A (p.Val839Ile) single nucleotide variant Desbuquois dysplasia 1 [RCV001521050]|Desbuquois dysplasia 2 [RCV002243278]|not provided [RCV001685404] Chr16:17117688 [GRCh38]
Chr16:17211545 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1994C>T (p.Thr665Met) single nucleotide variant Desbuquois dysplasia 1 [RCV001522788]|Desbuquois dysplasia 2 [RCV002243288]|not provided [RCV001813826] Chr16:17134506 [GRCh38]
Chr16:17228363 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1416C>T (p.Asp472=) single nucleotide variant Desbuquois dysplasia 1 [RCV001501808] Chr16:17141324 [GRCh38]
Chr16:17235181 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2561A>C (p.Glu854Ala) single nucleotide variant Desbuquois dysplasia 1 [RCV001446159]|not provided [RCV004720914] Chr16:17109014 [GRCh38]
Chr16:17202871 [GRCh37]
Chr16:16p12.3		 likely benign|uncertain significance
NM_022166.4(XYLT1):c.2224-7G>C single nucleotide variant Desbuquois dysplasia 1 [RCV001430309] Chr16:17117986 [GRCh38]
Chr16:17211843 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1875G>A (p.Pro625=) single nucleotide variant Desbuquois dysplasia 1 [RCV001399293]|not provided [RCV004704525] Chr16:17134625 [GRCh38]
Chr16:17228482 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.213C>T (p.Pro71=) single nucleotide variant Desbuquois dysplasia 1 [RCV001400880] Chr16:17470584 [GRCh38]
Chr16:17564441 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2865T>C (p.Asp955=) single nucleotide variant Desbuquois dysplasia 1 [RCV001432894] Chr16:17108710 [GRCh38]
Chr16:17202567 [GRCh37]
Chr16:16p12.3		 likely benign
NC_000016.9:g.(?_17564281)_(17564653_?)del deletion Desbuquois dysplasia 1 [RCV001386266] Chr16:17564281..17564653 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.1938C>T (p.Asp646=) single nucleotide variant Desbuquois dysplasia 1 [RCV001438217] Chr16:17134562 [GRCh38]
Chr16:17228419 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2535G>C (p.Ser845=) single nucleotide variant Desbuquois dysplasia 1 [RCV001443376] Chr16:17117668 [GRCh38]
Chr16:17211525 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1651C>T (p.Arg551Cys) single nucleotide variant Desbuquois dysplasia 2 [RCV003225190]|not provided [RCV001596898] Chr16:17138468 [GRCh38]
Chr16:17232325 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.2675G>A (p.Arg892Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV001519012]|Desbuquois dysplasia 2 [RCV002243274]|not provided [RCV001615203] Chr16:17108900 [GRCh38]
Chr16:17202757 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1989C>T (p.Ala663=) single nucleotide variant Desbuquois dysplasia 1 [RCV001519014]|Desbuquois dysplasia 2 [RCV002243275]|not provided [RCV001692421] Chr16:17134511 [GRCh38]
Chr16:17228368 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.668C>G (p.Ala223Gly) single nucleotide variant Desbuquois dysplasia 1 [RCV001519015]|Desbuquois dysplasia 2 [RCV002243276]|not provided [RCV001655773] Chr16:17259233 [GRCh38]
Chr16:17353090 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.913+9C>T single nucleotide variant Desbuquois dysplasia 1 [RCV001515014]|Desbuquois dysplasia 2 [RCV002243269]|not provided [RCV001655750] Chr16:17258979 [GRCh38]
Chr16:17352836 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1353C>T (p.His451=) single nucleotide variant Desbuquois dysplasia 1 [RCV001481987]|XYLT1-related disorder [RCV003980411] Chr16:17158846 [GRCh38]
Chr16:17252703 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2224-106C>G single nucleotide variant not provided [RCV001615019] Chr16:17118085 [GRCh38]
Chr16:17211942 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.228A>G (p.Ala76=) single nucleotide variant Desbuquois dysplasia 1 [RCV001479996] Chr16:17470569 [GRCh38]
Chr16:17564426 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2298G>A (p.Pro766=) single nucleotide variant Desbuquois dysplasia 1 [RCV001459332] Chr16:17117905 [GRCh38]
Chr16:17211762 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1044C>T (p.Ala348=) single nucleotide variant Desbuquois dysplasia 1 [RCV001511749] Chr16:17200524 [GRCh38]
Chr16:17294381 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2558-90A>G single nucleotide variant not provided [RCV001696322] Chr16:17109107 [GRCh38]
Chr16:17202964 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2557+256A>G single nucleotide variant not provided [RCV001672208] Chr16:17117390 [GRCh38]
Chr16:17211247 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.363+214G>T single nucleotide variant not provided [RCV001678681] Chr16:17470220 [GRCh38]
Chr16:17564077 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2028-183T>C single nucleotide variant not provided [RCV001678868] Chr16:17128044 [GRCh38]
Chr16:17221901 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2028-269G>T single nucleotide variant not provided [RCV001692593] Chr16:17128130 [GRCh38]
Chr16:17221987 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.255C>A (p.Gly85=) single nucleotide variant Desbuquois dysplasia 1 [RCV001478616]|not provided [RCV004704602] Chr16:17470542 [GRCh38]
Chr16:17564399 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.402+6T>C single nucleotide variant Desbuquois dysplasia 1 [RCV001481334] Chr16:17358006 [GRCh38]
Chr16:17451863 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1854G>T (p.Gly618=) single nucleotide variant Desbuquois dysplasia 1 [RCV001513808]|not provided [RCV004809662] Chr16:17134646 [GRCh38]
Chr16:17228503 [GRCh37]
Chr16:16p12.3		 benign|likely benign
NM_022166.4(XYLT1):c.72G>C (p.Val24=) single nucleotide variant Desbuquois dysplasia 1 [RCV001503265] Chr16:17470725 [GRCh38]
Chr16:17564582 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.93C>T (p.Val31=) single nucleotide variant Desbuquois dysplasia 1 [RCV001465790] Chr16:17470704 [GRCh38]
Chr16:17564561 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2331T>C (p.Asn777=) single nucleotide variant Desbuquois dysplasia 1 [RCV001521051]|Desbuquois dysplasia 2 [RCV002243279]|not provided [RCV001655780] Chr16:17117872 [GRCh38]
Chr16:17211729 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2766G>C (p.Thr922=) single nucleotide variant Desbuquois dysplasia 1 [RCV001506347] Chr16:17108809 [GRCh38]
Chr16:17202666 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.57C>T (p.Leu19=) single nucleotide variant Desbuquois dysplasia 1 [RCV001497968] Chr16:17470740 [GRCh38]
Chr16:17564597 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2631C>T (p.Pro877=) single nucleotide variant Desbuquois dysplasia 1 [RCV001517254]|Desbuquois dysplasia 2 [RCV002243270]|not provided [RCV001712927] Chr16:17108944 [GRCh38]
Chr16:17202801 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2081G>A (p.Arg694His) single nucleotide variant Desbuquois dysplasia 1 [RCV001434503] Chr16:17127808 [GRCh38]
Chr16:17221665 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2694G>A (p.Thr898=) single nucleotide variant Desbuquois dysplasia 1 [RCV001503692] Chr16:17108881 [GRCh38]
Chr16:17202738 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1077C>T (p.His359=) single nucleotide variant Desbuquois dysplasia 1 [RCV001511487]|Desbuquois dysplasia 2 [RCV002243261]|not provided [RCV001567366] Chr16:17200491 [GRCh38]
Chr16:17294348 [GRCh37]
Chr16:16p12.3		 benign|likely benign
NM_022166.4(XYLT1):c.2430C>T (p.Pro810=) single nucleotide variant Desbuquois dysplasia 1 [RCV001405087] Chr16:17117773 [GRCh38]
Chr16:17211630 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1518G>A (p.Val506=) single nucleotide variant Desbuquois dysplasia 1 [RCV001484004] Chr16:17141222 [GRCh38]
Chr16:17235079 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1284C>G (p.Pro428=) single nucleotide variant Desbuquois dysplasia 1 [RCV001522414]|Desbuquois dysplasia 2 [RCV002243286]|not provided [RCV001655785] Chr16:17198217 [GRCh38]
Chr16:17292074 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2224-12C>T single nucleotide variant Desbuquois dysplasia 1 [RCV001522655]|Desbuquois dysplasia 2 [RCV002243287]|not provided [RCV001655787] Chr16:17117991 [GRCh38]
Chr16:17211848 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.161G>C (p.Gly54Ala) single nucleotide variant Inborn genetic diseases [RCV003241914] Chr16:17470636 [GRCh38]
Chr16:17564493 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1633A>G (p.Met545Val) single nucleotide variant Desbuquois dysplasia 1 [RCV002034470]|Inborn genetic diseases [RCV004040164]|not provided [RCV001772540] Chr16:17138486 [GRCh38]
Chr16:17232343 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2410G>A (p.Glu804Lys) single nucleotide variant not provided [RCV001763455] Chr16:17117793 [GRCh38]
Chr16:17211650 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2269G>C (p.Gly757Arg) single nucleotide variant not provided [RCV001769351] Chr16:17117934 [GRCh38]
Chr16:17211791 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV001733719]|Desbuquois dysplasia 1 [RCV002543921]|not provided [RCV003416413] Chr16:17108768 [GRCh38]
Chr16:17202625 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2352G>T (p.Trp784Cys) single nucleotide variant not provided [RCV001760880] Chr16:17117851 [GRCh38]
Chr16:17211708 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1290-92G>A single nucleotide variant not provided [RCV001776331] Chr16:17159001 [GRCh38]
Chr16:17252858 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2169dup (p.Val724fs) duplication Desbuquois dysplasia 2 [RCV004799037] Chr16:17127719..17127720 [GRCh38]
Chr16:17221576..17221577 [GRCh37]
Chr16:16p12.3		 likely pathogenic
NM_022166.4(XYLT1):c.2223+6A>C single nucleotide variant Desbuquois dysplasia 1 [RCV001971030] Chr16:17127660 [GRCh38]
Chr16:17221517 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1807G>A (p.Val603Met) single nucleotide variant Desbuquois dysplasia 1 [RCV001864100]|not provided [RCV004770236] Chr16:17134693 [GRCh38]
Chr16:17228550 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.287G>C (p.Arg96Pro) single nucleotide variant Desbuquois dysplasia 1 [RCV001863603]|Inborn genetic diseases [RCV003355570] Chr16:17470510 [GRCh38]
Chr16:17564367 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1129C>G (p.Gln377Glu) single nucleotide variant Desbuquois dysplasia 1 [RCV001928905]|Inborn genetic diseases [RCV004970543]|not provided [RCV004693973] Chr16:17198372 [GRCh38]
Chr16:17292229 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1474G>A (p.Gly492Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV001914604] Chr16:17141266 [GRCh38]
Chr16:17235123 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.47C>T (p.Ser16Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV001914668]|Inborn genetic diseases [RCV004970380] Chr16:17470750 [GRCh38]
Chr16:17564607 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1479G>A (p.Ser493=) single nucleotide variant Desbuquois dysplasia 1 [RCV001965398] Chr16:17141261 [GRCh38]
Chr16:17235118 [GRCh37]
Chr16:16p12.3		 likely benign|uncertain significance
GRCh37/hg19 16p12.3(chr16:16837614-17371034)x3 copy number gain not provided [RCV001832967] Chr16:16837614..17371034 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.694G>C (p.Asp232His) single nucleotide variant Desbuquois dysplasia 1 [RCV001910249]|Inborn genetic diseases [RCV002557661]|not provided [RCV005251298] Chr16:17259207 [GRCh38]
Chr16:17353064 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1763A>G (p.Gln588Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV001891681] Chr16:17138356 [GRCh38]
Chr16:17232213 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.94G>A (p.Val32Met) single nucleotide variant Desbuquois dysplasia 1 [RCV001985116] Chr16:17470703 [GRCh38]
Chr16:17564560 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.178GCCCCG[3] (p.60AP[3]) microsatellite Desbuquois dysplasia 1 [RCV002043116] Chr16:17470607..17470608 [GRCh38]
Chr16:17564464..17564465 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1229A>T (p.Glu410Val) single nucleotide variant Desbuquois dysplasia 1 [RCV002022417]|Inborn genetic diseases [RCV002642162] Chr16:17198272 [GRCh38]
Chr16:17292129 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2560G>A (p.Glu854Lys) single nucleotide variant Desbuquois dysplasia 1 [RCV001909239] Chr16:17109015 [GRCh38]
Chr16:17202872 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.188C>G (p.Pro63Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV002023559] Chr16:17470609 [GRCh38]
Chr16:17564466 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2209C>A (p.Leu737Ile) single nucleotide variant Desbuquois dysplasia 1 [RCV002041258] Chr16:17127680 [GRCh38]
Chr16:17221537 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2619G>C (p.Gln873His) single nucleotide variant Desbuquois dysplasia 1 [RCV002022318] Chr16:17108956 [GRCh38]
Chr16:17202813 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1520C>A (p.Thr507Asn) single nucleotide variant Desbuquois dysplasia 1 [RCV001983696] Chr16:17141220 [GRCh38]
Chr16:17235077 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1717G>A (p.Gly573Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV001888014]|Inborn genetic diseases [RCV003164068] Chr16:17138402 [GRCh38]
Chr16:17232259 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1445G>A (p.Arg482Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV002048273]|Inborn genetic diseases [RCV004046811] Chr16:17141295 [GRCh38]
Chr16:17235152 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.670G>A (p.Ala224Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV002001299] Chr16:17259231 [GRCh38]
Chr16:17353088 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2117A>G (p.Asn706Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV001962566] Chr16:17127772 [GRCh38]
Chr16:17221629 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.534G>T (p.Gln178His) single nucleotide variant Desbuquois dysplasia 1 [RCV001887378] Chr16:17259367 [GRCh38]
Chr16:17353224 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2465C>G (p.Thr822Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV001887407] Chr16:17117738 [GRCh38]
Chr16:17211595 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1370+5C>T single nucleotide variant Desbuquois dysplasia 1 [RCV002019960] Chr16:17158824 [GRCh38]
Chr16:17252681 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1930C>A (p.Leu644Met) single nucleotide variant Desbuquois dysplasia 1 [RCV001882991]|Inborn genetic diseases [RCV004040607] Chr16:17134570 [GRCh38]
Chr16:17228427 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2467G>A (p.Val823Met) single nucleotide variant Desbuquois dysplasia 1 [RCV002038326] Chr16:17117736 [GRCh38]
Chr16:17211593 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1534G>T (p.Asp512Tyr) single nucleotide variant Desbuquois dysplasia 1 [RCV002036849] Chr16:17141206 [GRCh38]
Chr16:17235063 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2693C>T (p.Thr898Met) single nucleotide variant Desbuquois dysplasia 1 [RCV001887510] Chr16:17108882 [GRCh38]
Chr16:17202739 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.508C>T (p.Pro170Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV002038364] Chr16:17259393 [GRCh38]
Chr16:17353250 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.18C>G (p.Cys6Trp) single nucleotide variant Desbuquois dysplasia 1 [RCV001943516]|Inborn genetic diseases [RCV003264269] Chr16:17470779 [GRCh38]
Chr16:17564636 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.440G>A (p.Arg147Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV002037434] Chr16:17259461 [GRCh38]
Chr16:17353318 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2783C>T (p.Pro928Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV001887163] Chr16:17108792 [GRCh38]
Chr16:17202649 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1547A>G (p.Lys516Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV002014080] Chr16:17141193 [GRCh38]
Chr16:17235050 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.359C>T (p.Ala120Val) single nucleotide variant Desbuquois dysplasia 1 [RCV002010352] Chr16:17470438 [GRCh38]
Chr16:17564295 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1826T>C (p.Ile609Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV001936380]|Inborn genetic diseases [RCV002560602] Chr16:17134674 [GRCh38]
Chr16:17228531 [GRCh37]
Chr16:16p12.3		 uncertain significance
NC_000016.9:g.(?_15758636)_(17564653_?)dup duplication Desbuquois dysplasia 1 [RCV001919069]|not provided [RCV003107892] Chr16:15758636..17564653 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance|no classifications from unflagged records
NM_022166.4(XYLT1):c.2378C>T (p.Ala793Val) single nucleotide variant Desbuquois dysplasia 1 [RCV001920695]|Inborn genetic diseases [RCV003247147] Chr16:17117825 [GRCh38]
Chr16:17211682 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.899T>C (p.Phe300Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV002032292] Chr16:17259002 [GRCh38]
Chr16:17352859 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2069T>C (p.Phe690Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV001879528] Chr16:17127820 [GRCh38]
Chr16:17221677 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.425C>T (p.Pro142Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV001898529]|Inborn genetic diseases [RCV004681298]|not provided [RCV004809693] Chr16:17259476 [GRCh38]
Chr16:17353333 [GRCh37]
Chr16:16p12.3		 likely benign|uncertain significance
NM_022166.4(XYLT1):c.182C>G (p.Pro61Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV001934435]|Inborn genetic diseases [RCV002562182] Chr16:17470615 [GRCh38]
Chr16:17564472 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2417C>A (p.Thr806Lys) single nucleotide variant Desbuquois dysplasia 1 [RCV001994223]|Inborn genetic diseases [RCV004681376] Chr16:17117786 [GRCh38]
Chr16:17211643 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.358G>A (p.Ala120Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV001930598] Chr16:17470439 [GRCh38]
Chr16:17564296 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1006G>A (p.Gly336Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV001979030]|Inborn genetic diseases [RCV004043137] Chr16:17200562 [GRCh38]
Chr16:17294419 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2260C>T (p.Arg754Cys) single nucleotide variant Desbuquois dysplasia 1 [RCV001989448] Chr16:17117943 [GRCh38]
Chr16:17211800 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2784G>A (p.Pro928=) single nucleotide variant Desbuquois dysplasia 1 [RCV001956295] Chr16:17108791 [GRCh38]
Chr16:17202648 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.130G>A (p.Glu44Lys) single nucleotide variant Desbuquois dysplasia 1 [RCV001867125] Chr16:17470667 [GRCh38]
Chr16:17564524 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.317G>A (p.Arg106Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV001916458] Chr16:17470480 [GRCh38]
Chr16:17564337 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1276G>A (p.Asp426Asn) single nucleotide variant Desbuquois dysplasia 1 [RCV002017082]|not provided [RCV004779251] Chr16:17198225 [GRCh38]
Chr16:17292082 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2669A>G (p.Gln890Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV001921502] Chr16:17108906 [GRCh38]
Chr16:17202763 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1088G>A (p.Arg363His) single nucleotide variant Desbuquois dysplasia 1 [RCV001996502]|Inborn genetic diseases [RCV004970744] Chr16:17198413 [GRCh38]
Chr16:17292270 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.179C>T (p.Ala60Val) single nucleotide variant Desbuquois dysplasia 1 [RCV001939127]|Inborn genetic diseases [RCV002560648] Chr16:17470618 [GRCh38]
Chr16:17564475 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.689G>A (p.Gly230Glu) single nucleotide variant Desbuquois dysplasia 1 [RCV001940309] Chr16:17259212 [GRCh38]
Chr16:17353069 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1985G>A (p.Arg662Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV001877712]|Inborn genetic diseases [RCV004040614]|not provided [RCV004770247] Chr16:17134515 [GRCh38]
Chr16:17228372 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2665G>C (p.Glu889Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV001993854] Chr16:17108910 [GRCh38]
Chr16:17202767 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2338G>A (p.Val780Met) single nucleotide variant Desbuquois dysplasia 1 [RCV001973096] Chr16:17117865 [GRCh38]
Chr16:17211722 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.41C>T (p.Ser14Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV001954812]|Inborn genetic diseases [RCV002558487] Chr16:17470756 [GRCh38]
Chr16:17564613 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1259T>C (p.Ile420Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV001994216] Chr16:17198242 [GRCh38]
Chr16:17292099 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.731G>C (p.Gly244Ala) single nucleotide variant Desbuquois dysplasia 1 [RCV002030106]|Inborn genetic diseases [RCV004038747] Chr16:17259170 [GRCh38]
Chr16:17353027 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1638G>A (p.Val546=) single nucleotide variant Desbuquois dysplasia 1 [RCV001876929] Chr16:17138481 [GRCh38]
Chr16:17232338 [GRCh37]
Chr16:16p12.3		 likely benign|uncertain significance
NM_022166.4(XYLT1):c.1764+4A>G single nucleotide variant Desbuquois dysplasia 1 [RCV001918572] Chr16:17138351 [GRCh38]
Chr16:17232208 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1627G>A (p.Asp543Asn) single nucleotide variant Desbuquois dysplasia 1 [RCV001933298]|not provided [RCV005251300] Chr16:17138492 [GRCh38]
Chr16:17232349 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2557G>C (p.Glu853Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV001925485]|not provided [RCV002261414] Chr16:17117646 [GRCh38]
Chr16:17211503 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2870G>A (p.Arg957Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV001923750] Chr16:17108705 [GRCh38]
Chr16:17202562 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1588-9C>A single nucleotide variant Desbuquois dysplasia 1 [RCV002010077] Chr16:17138540 [GRCh38]
Chr16:17232397 [GRCh37]
Chr16:16p12.3		 likely benign|uncertain significance
NM_022166.4(XYLT1):c.974C>T (p.Pro325Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV002028030]|Inborn genetic diseases [RCV002549008] Chr16:17200594 [GRCh38]
Chr16:17294451 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.764C>T (p.Pro255Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV001930855] Chr16:17259137 [GRCh38]
Chr16:17352994 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.279_284del (p.Gln94_Ala95del) deletion Desbuquois dysplasia 1 [RCV001930889] Chr16:17470513..17470518 [GRCh38]
Chr16:17564370..17564375 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2088G>T (p.Gln696His) single nucleotide variant Desbuquois dysplasia 1 [RCV001992194]|not provided [RCV004694111] Chr16:17127801 [GRCh38]
Chr16:17221658 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.923A>C (p.Asn308Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV001992481] Chr16:17200645 [GRCh38]
Chr16:17294502 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.617A>G (p.His206Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV002017217]|Inborn genetic diseases [RCV002657657] Chr16:17259284 [GRCh38]
Chr16:17353141 [GRCh37]
Chr16:16p12.3		 uncertain significance
NC_000016.9:g.(?_17202552)_(17451927_?)dup duplication Desbuquois dysplasia 1 [RCV001997156] Chr16:17202552..17451927 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.389C>T (p.Thr130Ile) single nucleotide variant Desbuquois dysplasia 1 [RCV001939844] Chr16:17358025 [GRCh38]
Chr16:17451882 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2555C>G (p.Pro852Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV001999156]|Inborn genetic diseases [RCV004045463] Chr16:17117648 [GRCh38]
Chr16:17211505 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2690C>T (p.Ser897Phe) single nucleotide variant Desbuquois dysplasia 1 [RCV001978575] Chr16:17108885 [GRCh38]
Chr16:17202742 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.914-9T>A single nucleotide variant Desbuquois dysplasia 1 [RCV002029845] Chr16:17200663 [GRCh38]
Chr16:17294520 [GRCh37]
Chr16:16p12.3		 likely benign|uncertain significance
NM_022166.4(XYLT1):c.793A>G (p.Ile265Val) single nucleotide variant Desbuquois dysplasia 1 [RCV001878408] Chr16:17259108 [GRCh38]
Chr16:17352965 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.558G>A (p.Pro186=) single nucleotide variant Desbuquois dysplasia 1 [RCV001954073] Chr16:17259343 [GRCh38]
Chr16:17353200 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2502G>C (p.Glu834Asp) single nucleotide variant Desbuquois dysplasia 1 [RCV002049350] Chr16:17117701 [GRCh38]
Chr16:17211558 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.317G>C (p.Arg106Pro) single nucleotide variant Desbuquois dysplasia 1 [RCV001897571] Chr16:17470480 [GRCh38]
Chr16:17564337 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.402+18C>G single nucleotide variant Desbuquois dysplasia 1 [RCV002207200] Chr16:17357994 [GRCh38]
Chr16:17451851 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.402+18C>T single nucleotide variant Desbuquois dysplasia 1 [RCV002166625] Chr16:17357994 [GRCh38]
Chr16:17451851 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1848G>C (p.Leu616=) single nucleotide variant Desbuquois dysplasia 1 [RCV002087993] Chr16:17134652 [GRCh38]
Chr16:17228509 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1764+11C>G single nucleotide variant Desbuquois dysplasia 1 [RCV002111466] Chr16:17138344 [GRCh38]
Chr16:17232201 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2520G>A (p.Ala840=) single nucleotide variant Desbuquois dysplasia 1 [RCV002145887] Chr16:17117683 [GRCh38]
Chr16:17211540 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1413C>T (p.Cys471=) single nucleotide variant Desbuquois dysplasia 1 [RCV002169873] Chr16:17141327 [GRCh38]
Chr16:17235184 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1032C>T (p.Arg344=) single nucleotide variant Desbuquois dysplasia 1 [RCV002089780] Chr16:17200536 [GRCh38]
Chr16:17294393 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1917C>T (p.Asp639=) single nucleotide variant Desbuquois dysplasia 1 [RCV002086134] Chr16:17134583 [GRCh38]
Chr16:17228440 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2557+16G>T single nucleotide variant Desbuquois dysplasia 1 [RCV002126274] Chr16:17117630 [GRCh38]
Chr16:17211487 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.987C>T (p.Ala329=) single nucleotide variant Desbuquois dysplasia 1 [RCV002187131] Chr16:17200581 [GRCh38]
Chr16:17294438 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.913+16G>C single nucleotide variant Desbuquois dysplasia 1 [RCV002105778] Chr16:17258972 [GRCh38]
Chr16:17352829 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.306C>T (p.Pro102=) single nucleotide variant Desbuquois dysplasia 1 [RCV002091922] Chr16:17470491 [GRCh38]
Chr16:17564348 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.624C>T (p.Phe208=) single nucleotide variant Desbuquois dysplasia 1 [RCV002115887]|not provided [RCV004715599] Chr16:17259277 [GRCh38]
Chr16:17353134 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.153C>T (p.Val51=) single nucleotide variant Desbuquois dysplasia 1 [RCV002106303] Chr16:17470644 [GRCh38]
Chr16:17564501 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2163G>A (p.Pro721=) single nucleotide variant Desbuquois dysplasia 1 [RCV002149582]|Inborn genetic diseases [RCV004686720] Chr16:17127726 [GRCh38]
Chr16:17221583 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.914-18C>A single nucleotide variant Desbuquois dysplasia 1 [RCV002211751] Chr16:17200672 [GRCh38]
Chr16:17294529 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.984C>T (p.Ile328=) single nucleotide variant Desbuquois dysplasia 1 [RCV002146252] Chr16:17200584 [GRCh38]
Chr16:17294441 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1995G>A (p.Thr665=) single nucleotide variant Desbuquois dysplasia 1 [RCV002209833] Chr16:17134505 [GRCh38]
Chr16:17228362 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1289+13A>G single nucleotide variant Desbuquois dysplasia 1 [RCV002149856] Chr16:17198199 [GRCh38]
Chr16:17292056 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.126C>T (p.Ala42=) single nucleotide variant Desbuquois dysplasia 1 [RCV002088219] Chr16:17470671 [GRCh38]
Chr16:17564528 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.750G>A (p.Lys250=) single nucleotide variant Desbuquois dysplasia 1 [RCV002126393] Chr16:17259151 [GRCh38]
Chr16:17353008 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1764+19C>T single nucleotide variant Desbuquois dysplasia 1 [RCV002146478] Chr16:17138336 [GRCh38]
Chr16:17232193 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2466A>G (p.Thr822=) single nucleotide variant Desbuquois dysplasia 1 [RCV002188855] Chr16:17117737 [GRCh38]
Chr16:17211594 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1590C>T (p.Ser530=) single nucleotide variant Desbuquois dysplasia 1 [RCV002128229] Chr16:17138529 [GRCh38]
Chr16:17232386 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.914-8T>A single nucleotide variant Desbuquois dysplasia 1 [RCV002173445] Chr16:17200662 [GRCh38]
Chr16:17294519 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.930C>T (p.Asn310=) single nucleotide variant Desbuquois dysplasia 1 [RCV002097415] Chr16:17200638 [GRCh38]
Chr16:17294495 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2028-15C>T single nucleotide variant Desbuquois dysplasia 1 [RCV002172314] Chr16:17127876 [GRCh38]
Chr16:17221733 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2442G>T (p.Leu814Phe) single nucleotide variant Desbuquois dysplasia 1 [RCV002151117] Chr16:17117761 [GRCh38]
Chr16:17211618 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1087-14_1087-11del microsatellite Desbuquois dysplasia 1 [RCV002080872] Chr16:17198425..17198428 [GRCh38]
Chr16:17292282..17292285 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.913+15del deletion Desbuquois dysplasia 1 [RCV002172090] Chr16:17258973 [GRCh38]
Chr16:17352830 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2004C>T (p.His668=) single nucleotide variant Desbuquois dysplasia 1 [RCV002149067]|XYLT1-related disorder [RCV003895992] Chr16:17134496 [GRCh38]
Chr16:17228353 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.951C>T (p.Ser317=) single nucleotide variant Desbuquois dysplasia 1 [RCV002167285]|XYLT1-related disorder [RCV003950883] Chr16:17200617 [GRCh38]
Chr16:17294474 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1225C>T (p.Leu409=) single nucleotide variant Desbuquois dysplasia 1 [RCV002151046] Chr16:17198276 [GRCh38]
Chr16:17292133 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.546G>A (p.Ala182=) single nucleotide variant Desbuquois dysplasia 1 [RCV002096857] Chr16:17259355 [GRCh38]
Chr16:17353212 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.708G>A (p.Pro236=) single nucleotide variant Desbuquois dysplasia 1 [RCV002196338] Chr16:17259193 [GRCh38]
Chr16:17353050 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.541T>C (p.Leu181=) single nucleotide variant Desbuquois dysplasia 1 [RCV002117616] Chr16:17259360 [GRCh38]
Chr16:17353217 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.927G>A (p.Lys309=) single nucleotide variant Desbuquois dysplasia 1 [RCV002201401] Chr16:17200641 [GRCh38]
Chr16:17294498 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2558-18G>A single nucleotide variant Desbuquois dysplasia 1 [RCV002120498] Chr16:17109035 [GRCh38]
Chr16:17202892 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2337C>A (p.Thr779=) single nucleotide variant Desbuquois dysplasia 1 [RCV002218232] Chr16:17117866 [GRCh38]
Chr16:17211723 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1140T>C (p.Asn380=) single nucleotide variant Desbuquois dysplasia 1 [RCV002161677] Chr16:17198361 [GRCh38]
Chr16:17292218 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.264A>T (p.Gly88=) single nucleotide variant Desbuquois dysplasia 1 [RCV002081928] Chr16:17470533 [GRCh38]
Chr16:17564390 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.735C>T (p.Ser245=) single nucleotide variant Desbuquois dysplasia 1 [RCV002102428] Chr16:17259166 [GRCh38]
Chr16:17353023 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1841A>G (p.Tyr614Cys) single nucleotide variant Desbuquois dysplasia 1 [RCV002141783] Chr16:17134659 [GRCh38]
Chr16:17228516 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.258A>C (p.Gly86=) single nucleotide variant Desbuquois dysplasia 1 [RCV002154732]|not provided [RCV004706279] Chr16:17470539 [GRCh38]
Chr16:17564396 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1587+46T>G single nucleotide variant not provided [RCV002244471] Chr16:17141107 [GRCh38]
Chr16:17234964 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.363+18C>G single nucleotide variant Desbuquois dysplasia 1 [RCV002122674] Chr16:17470416 [GRCh38]
Chr16:17564273 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2028-14G>A single nucleotide variant Desbuquois dysplasia 1 [RCV002199653] Chr16:17127875 [GRCh38]
Chr16:17221732 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1588-35_1588-19del deletion Desbuquois dysplasia 1 [RCV002097940] Chr16:17138550..17138566 [GRCh38]
Chr16:17232407..17232423 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2358T>C (p.Asp786=) single nucleotide variant Desbuquois dysplasia 1 [RCV002159174]|not provided [RCV003458132] Chr16:17117845 [GRCh38]
Chr16:17211702 [GRCh37]
Chr16:16p12.3		 benign|likely benign
NM_022166.4(XYLT1):c.2224-9_2224-8del deletion Desbuquois dysplasia 1 [RCV002144575] Chr16:17117987..17117988 [GRCh38]
Chr16:17211844..17211845 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.402+15T>C single nucleotide variant Desbuquois dysplasia 1 [RCV002100655] Chr16:17357997 [GRCh38]
Chr16:17451854 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1533C>T (p.Asp511=) single nucleotide variant Desbuquois dysplasia 1 [RCV002104030] Chr16:17141207 [GRCh38]
Chr16:17235064 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1087-18T>C single nucleotide variant Desbuquois dysplasia 1 [RCV002154915] Chr16:17198432 [GRCh38]
Chr16:17292289 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.114C>G (p.Leu38=) single nucleotide variant Desbuquois dysplasia 1 [RCV002101033] Chr16:17470683 [GRCh38]
Chr16:17564540 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1290-6C>T single nucleotide variant Desbuquois dysplasia 1 [RCV002198664] Chr16:17158915 [GRCh38]
Chr16:17252772 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.357G>A (p.Arg119=) single nucleotide variant Desbuquois dysplasia 1 [RCV002178081] Chr16:17470440 [GRCh38]
Chr16:17564297 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1311G>A (p.Ala437=) single nucleotide variant Desbuquois dysplasia 1 [RCV002217744] Chr16:17158888 [GRCh38]
Chr16:17252745 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2457G>T (p.Gly819=) single nucleotide variant Desbuquois dysplasia 1 [RCV002123885] Chr16:17117746 [GRCh38]
Chr16:17211603 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.657C>T (p.Pro219=) single nucleotide variant Desbuquois dysplasia 1 [RCV002160693] Chr16:17259244 [GRCh38]
Chr16:17353101 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2566C>A (p.Leu856Met) single nucleotide variant Desbuquois dysplasia 1 [RCV003110411] Chr16:17109009 [GRCh38]
Chr16:17202866 [GRCh37]
Chr16:16p12.3		 uncertain significance
NC_000016.9:g.(?_15758636)_(17564653_?)del deletion Desbuquois dysplasia 1 [RCV003111473] Chr16:15758636..17564653 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_022166.4(XYLT1):c.2050G>A (p.Ala684Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV003117890] Chr16:17127839 [GRCh38]
Chr16:17221696 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2558-6T>C single nucleotide variant Desbuquois dysplasia 1 [RCV003121775] Chr16:17109023 [GRCh38]
Chr16:17202880 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1588-58C>A single nucleotide variant not provided [RCV002244472] Chr16:17138589 [GRCh38]
Chr16:17232446 [GRCh37]
Chr16:16p12.3		 likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15416917-18770833)x3 copy number gain See cases [RCV002286336] Chr16:15416917..18770833 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18191725) copy number gain Cardiomyopathy [RCV002280695] Chr16:15316618..18191725 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_022166.4(XYLT1):c.1588-93A>G single nucleotide variant not provided [RCV002285847] Chr16:17138624 [GRCh38]
Chr16:17232481 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.913+15C>T single nucleotide variant Desbuquois dysplasia 1 [RCV002967966] Chr16:17258973 [GRCh38]
Chr16:17352830 [GRCh37]
Chr16:16p12.3		 likely benign
GRCh37/hg19 16p12.3(chr16:16955593-17467141)x3 copy number gain not provided [RCV002472718] Chr16:16955593..17467141 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316939-18770833)x3 copy number gain not provided [RCV002472531] Chr16:15316939..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_022166.4(XYLT1):c.1334T>C (p.Met445Thr) single nucleotide variant Inborn genetic diseases [RCV004047727]|not provided [RCV002306352] Chr16:17158865 [GRCh38]
Chr16:17252722 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.28C>T (p.Leu10=) single nucleotide variant Desbuquois dysplasia 1 [RCV002858060] Chr16:17470769 [GRCh38]
Chr16:17564626 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2425A>G (p.Lys809Glu) single nucleotide variant Desbuquois dysplasia 1 [RCV002993734]|Inborn genetic diseases [RCV004681589] Chr16:17117778 [GRCh38]
Chr16:17211635 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1478C>T (p.Ser493Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV003074531] Chr16:17141262 [GRCh38]
Chr16:17235119 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1883G>A (p.Arg628His) single nucleotide variant Desbuquois dysplasia 1 [RCV002903251] Chr16:17134617 [GRCh38]
Chr16:17228474 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2353G>C (p.Val785Leu) single nucleotide variant Inborn genetic diseases [RCV002859541] Chr16:17117850 [GRCh38]
Chr16:17211707 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.973C>A (p.Pro325Thr) single nucleotide variant Inborn genetic diseases [RCV002682746] Chr16:17200595 [GRCh38]
Chr16:17294452 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2639G>C (p.Ser880Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV002909097] Chr16:17108936 [GRCh38]
Chr16:17202793 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2071C>G (p.Leu691Val) single nucleotide variant Desbuquois dysplasia 1 [RCV003034263] Chr16:17127818 [GRCh38]
Chr16:17221675 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2220C>T (p.Ser740=) single nucleotide variant Desbuquois dysplasia 1 [RCV003075679] Chr16:17127669 [GRCh38]
Chr16:17221526 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2385C>T (p.Tyr795=) single nucleotide variant Desbuquois dysplasia 1 [RCV002905020] Chr16:17117818 [GRCh38]
Chr16:17211675 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.422G>A (p.Arg141Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV003015186] Chr16:17259479 [GRCh38]
Chr16:17353336 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1045A>G (p.Ile349Val) single nucleotide variant Inborn genetic diseases [RCV002817774] Chr16:17200523 [GRCh38]
Chr16:17294380 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.566A>G (p.Gln189Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV002904694]|Inborn genetic diseases [RCV004066296] Chr16:17259335 [GRCh38]
Chr16:17353192 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1086+9C>G single nucleotide variant Desbuquois dysplasia 1 [RCV002994053] Chr16:17200473 [GRCh38]
Chr16:17294330 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.366T>C (p.Asp122=) single nucleotide variant Desbuquois dysplasia 1 [RCV003076203] Chr16:17358048 [GRCh38]
Chr16:17451905 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.1765-14T>A single nucleotide variant Desbuquois dysplasia 1 [RCV003032360] Chr16:17134749 [GRCh38]
Chr16:17228606 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1145G>A (p.Arg382His) single nucleotide variant Desbuquois dysplasia 1 [RCV002903556] Chr16:17198356 [GRCh38]
Chr16:17292213 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.553C>G (p.Pro185Ala) single nucleotide variant Desbuquois dysplasia 1 [RCV002843316] Chr16:17259348 [GRCh38]
Chr16:17353205 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2682C>T (p.Asn894=) single nucleotide variant Desbuquois dysplasia 1 [RCV002592222] Chr16:17108893 [GRCh38]
Chr16:17202750 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.515C>T (p.Thr172Ile) single nucleotide variant Desbuquois dysplasia 1 [RCV002949101]|Inborn genetic diseases [RCV004068085] Chr16:17259386 [GRCh38]
Chr16:17353243 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2080C>T (p.Arg694Cys) single nucleotide variant Desbuquois dysplasia 1 [RCV002706383] Chr16:17127809 [GRCh38]
Chr16:17221666 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1011T>A (p.Arg337=) single nucleotide variant Desbuquois dysplasia 1 [RCV002640407] Chr16:17200557 [GRCh38]
Chr16:17294414 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.914-12G>T single nucleotide variant Desbuquois dysplasia 1 [RCV002569499] Chr16:17200666 [GRCh38]
Chr16:17294523 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2424C>T (p.Tyr808=) single nucleotide variant Desbuquois dysplasia 1 [RCV003100254] Chr16:17117779 [GRCh38]
Chr16:17211636 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.560G>A (p.Ser187Asn) single nucleotide variant Desbuquois dysplasia 1 [RCV002569681]|Inborn genetic diseases [RCV004965892] Chr16:17259341 [GRCh38]
Chr16:17353198 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.71TGC[5] (p.Leu27_Gln28insLeu) microsatellite Desbuquois dysplasia 1 [RCV003053305] Chr16:17470714..17470715 [GRCh38]
Chr16:17564571..17564572 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.571G>A (p.Glu191Lys) single nucleotide variant Inborn genetic diseases [RCV002822203] Chr16:17259330 [GRCh38]
Chr16:17353187 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1271C>T (p.Ala424Val) single nucleotide variant Desbuquois dysplasia 1 [RCV002948348] Chr16:17198230 [GRCh38]
Chr16:17292087 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2409C>T (p.Ala803=) single nucleotide variant Desbuquois dysplasia 1 [RCV003078775] Chr16:17117794 [GRCh38]
Chr16:17211651 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1992G>C (p.Glu664Asp) single nucleotide variant Inborn genetic diseases [RCV002784847] Chr16:17134508 [GRCh38]
Chr16:17228365 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2322G>A (p.Lys774=) single nucleotide variant Desbuquois dysplasia 1 [RCV002909795] Chr16:17117881 [GRCh38]
Chr16:17211738 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2837A>C (p.Lys946Thr) single nucleotide variant Inborn genetic diseases [RCV002869132] Chr16:17108738 [GRCh38]
Chr16:17202595 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2519C>A (p.Ala840Glu) single nucleotide variant Desbuquois dysplasia 1 [RCV002796770] Chr16:17117684 [GRCh38]
Chr16:17211541 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2632G>A (p.Val878Ile) single nucleotide variant Desbuquois dysplasia 1 [RCV002637190] Chr16:17108943 [GRCh38]
Chr16:17202800 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.693G>A (p.Lys231=) single nucleotide variant Desbuquois dysplasia 1 [RCV002825113] Chr16:17259208 [GRCh38]
Chr16:17353065 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.176C>A (p.Pro59Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV002948901]|Inborn genetic diseases [RCV002966050] Chr16:17470621 [GRCh38]
Chr16:17564478 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.121G>C (p.Gly41Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV003080254] Chr16:17470676 [GRCh38]
Chr16:17564533 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2028-16G>C single nucleotide variant Desbuquois dysplasia 1 [RCV002913617] Chr16:17127877 [GRCh38]
Chr16:17221734 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2725_2727del (p.Leu909del) deletion Desbuquois dysplasia 1 [RCV002932226] Chr16:17108848..17108850 [GRCh38]
Chr16:17202705..17202707 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1765-15A>C single nucleotide variant Desbuquois dysplasia 1 [RCV002917275] Chr16:17134750 [GRCh38]
Chr16:17228607 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1530A>G (p.Thr510=) single nucleotide variant Desbuquois dysplasia 1 [RCV002876809] Chr16:17141210 [GRCh38]
Chr16:17235067 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2027G>A (p.Arg676Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV003058885]|Inborn genetic diseases [RCV003058886] Chr16:17134473 [GRCh38]
Chr16:17228330 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1272G>T (p.Ala424=) single nucleotide variant Desbuquois dysplasia 1 [RCV002575553] Chr16:17198229 [GRCh38]
Chr16:17292086 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1100T>A (p.Leu367Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV002573987] Chr16:17198401 [GRCh38]
Chr16:17292258 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.958T>C (p.Tyr320His) single nucleotide variant Desbuquois dysplasia 1 [RCV002572976] Chr16:17200610 [GRCh38]
Chr16:17294467 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.15G>T (p.Pro5=) single nucleotide variant Desbuquois dysplasia 1 [RCV002575019] Chr16:17470782 [GRCh38]
Chr16:17564639 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1621C>T (p.His541Tyr) single nucleotide variant Desbuquois dysplasia 1 [RCV002790070] Chr16:17138498 [GRCh38]
Chr16:17232355 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1322G>A (p.Arg441Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV002594760] Chr16:17158877 [GRCh38]
Chr16:17252734 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.197A>T (p.Glu66Val) single nucleotide variant Desbuquois dysplasia 1 [RCV002801192] Chr16:17470600 [GRCh38]
Chr16:17564457 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2421C>T (p.His807=) single nucleotide variant Desbuquois dysplasia 1 [RCV003022508] Chr16:17117782 [GRCh38]
Chr16:17211639 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1588-15C>G single nucleotide variant Desbuquois dysplasia 1 [RCV003083915] Chr16:17138546 [GRCh38]
Chr16:17232403 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.45C>G (p.His15Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV003083716] Chr16:17470752 [GRCh38]
Chr16:17564609 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2640C>T (p.Ser880=) single nucleotide variant Desbuquois dysplasia 1 [RCV002667328] Chr16:17108935 [GRCh38]
Chr16:17202792 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1987G>A (p.Ala663Thr) single nucleotide variant Inborn genetic diseases [RCV002804001] Chr16:17134513 [GRCh38]
Chr16:17228370 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2549T>C (p.Ile850Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV003024262] Chr16:17117654 [GRCh38]
Chr16:17211511 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.197A>G (p.Glu66Gly) single nucleotide variant Inborn genetic diseases [RCV002764547] Chr16:17470600 [GRCh38]
Chr16:17564457 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1371-8C>T single nucleotide variant Desbuquois dysplasia 1 [RCV002876110] Chr16:17141377 [GRCh38]
Chr16:17235234 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2462G>A (p.Trp821Ter) single nucleotide variant Desbuquois dysplasia 1 [RCV002741580] Chr16:17117741 [GRCh38]
Chr16:17211598 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.249_269del (p.Gly84_Gly90del) deletion Desbuquois dysplasia 1 [RCV002642519] Chr16:17470528..17470548 [GRCh38]
Chr16:17564385..17564405 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.22C>T (p.Arg8Trp) single nucleotide variant Inborn genetic diseases [RCV002826137] Chr16:17470775 [GRCh38]
Chr16:17564632 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2027+20C>T single nucleotide variant Desbuquois dysplasia 1 [RCV002711360] Chr16:17134453 [GRCh38]
Chr16:17228310 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.60G>C (p.Ala20=) single nucleotide variant Desbuquois dysplasia 1 [RCV002830006] Chr16:17470737 [GRCh38]
Chr16:17564594 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1793G>A (p.Arg598His) single nucleotide variant Desbuquois dysplasia 1 [RCV002766207] Chr16:17134707 [GRCh38]
Chr16:17228564 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2808G>A (p.Thr936=) single nucleotide variant Desbuquois dysplasia 1 [RCV002625240] Chr16:17108767 [GRCh38]
Chr16:17202624 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.914-16C>G single nucleotide variant Desbuquois dysplasia 1 [RCV002625241] Chr16:17200670 [GRCh38]
Chr16:17294527 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.863A>G (p.Lys288Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV002928709] Chr16:17259038 [GRCh38]
Chr16:17352895 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.614G>A (p.Gly205Glu) single nucleotide variant Inborn genetic diseases [RCV002930995] Chr16:17259287 [GRCh38]
Chr16:17353144 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.403-18C>T single nucleotide variant Desbuquois dysplasia 1 [RCV003091753] Chr16:17259516 [GRCh38]
Chr16:17353373 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.282G>A (p.Gln94=) single nucleotide variant Desbuquois dysplasia 1 [RCV003089973] Chr16:17470515 [GRCh38]
Chr16:17564372 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1224C>T (p.Leu408=) single nucleotide variant Desbuquois dysplasia 1 [RCV003026515] Chr16:17198277 [GRCh38]
Chr16:17292134 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2224-4T>C single nucleotide variant Desbuquois dysplasia 1 [RCV002962194] Chr16:17117983 [GRCh38]
Chr16:17211840 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.809G>A (p.Arg270His) single nucleotide variant Desbuquois dysplasia 1 [RCV003063033] Chr16:17259092 [GRCh38]
Chr16:17352949 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1765-8G>A single nucleotide variant Desbuquois dysplasia 1 [RCV002812005] Chr16:17134743 [GRCh38]
Chr16:17228600 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1033A>C (p.Met345Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV002900586] Chr16:17200535 [GRCh38]
Chr16:17294392 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2026C>T (p.Arg676Ter) single nucleotide variant Desbuquois dysplasia 1 [RCV003064329] Chr16:17134474 [GRCh38]
Chr16:17228331 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.2869C>T (p.Arg957Trp) single nucleotide variant Desbuquois dysplasia 1 [RCV002933564] Chr16:17108706 [GRCh38]
Chr16:17202563 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2223+11A>G single nucleotide variant Desbuquois dysplasia 1 [RCV002770147] Chr16:17127655 [GRCh38]
Chr16:17221512 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2159T>C (p.Met720Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV003046174] Chr16:17127730 [GRCh38]
Chr16:17221587 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2223+12G>C single nucleotide variant Desbuquois dysplasia 1 [RCV002649307] Chr16:17127654 [GRCh38]
Chr16:17221511 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2768G>A (p.Gly923Asp) single nucleotide variant Desbuquois dysplasia 1 [RCV002922787]|Desbuquois dysplasia 2 [RCV003138395]|Inborn genetic diseases [RCV004067013] Chr16:17108807 [GRCh38]
Chr16:17202664 [GRCh37]
Chr16:16p12.3		 likely benign|uncertain significance
NM_022166.4(XYLT1):c.1952T>G (p.Leu651Trp) single nucleotide variant Desbuquois dysplasia 1 [RCV002578658] Chr16:17134548 [GRCh38]
Chr16:17228405 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.178G>A (p.Ala60Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV002598537] Chr16:17470619 [GRCh38]
Chr16:17564476 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1652G>A (p.Arg551His) single nucleotide variant Desbuquois dysplasia 1 [RCV003060398] Chr16:17138467 [GRCh38]
Chr16:17232324 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2169A>T (p.Lys723Asn) single nucleotide variant Desbuquois dysplasia 1 [RCV002597615] Chr16:17127720 [GRCh38]
Chr16:17221577 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2827C>T (p.Pro943Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV003009405] Chr16:17108748 [GRCh38]
Chr16:17202605 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1275C>T (p.Ala425=) single nucleotide variant Desbuquois dysplasia 1 [RCV002629337] Chr16:17198226 [GRCh38]
Chr16:17292083 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.748A>G (p.Lys250Glu) single nucleotide variant Inborn genetic diseases [RCV002836358] Chr16:17259153 [GRCh38]
Chr16:17353010 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.504C>T (p.Phe168=) single nucleotide variant Desbuquois dysplasia 1 [RCV002671025] Chr16:17259397 [GRCh38]
Chr16:17353254 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1028A>G (p.Gln343Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV002807149] Chr16:17200540 [GRCh38]
Chr16:17294397 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.517C>G (p.Gln173Glu) single nucleotide variant Desbuquois dysplasia 1 [RCV002648061]|Inborn genetic diseases [RCV004072118] Chr16:17259384 [GRCh38]
Chr16:17353241 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2047C>A (p.Pro683Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV003030556] Chr16:17127842 [GRCh38]
Chr16:17221699 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1302G>T (p.Gln434His) single nucleotide variant Inborn genetic diseases [RCV002677515] Chr16:17158897 [GRCh38]
Chr16:17252754 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2105A>T (p.His702Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV003051097] Chr16:17127784 [GRCh38]
Chr16:17221641 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2272G>C (p.Gly758Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV002944134] Chr16:17117931 [GRCh38]
Chr16:17211788 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1683_1712dup (p.Asp570_Trp571insCysLysCysGlnTyrLysHisIleValAsp) duplication Inborn genetic diseases [RCV002724196] Chr16:17138406..17138407 [GRCh38]
Chr16:17232263..17232264 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.907C>G (p.Leu303Val) single nucleotide variant Desbuquois dysplasia 1 [RCV003067746]|Inborn genetic diseases [RCV004071673] Chr16:17258994 [GRCh38]
Chr16:17352851 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.570G>A (p.Lys190=) single nucleotide variant Desbuquois dysplasia 1 [RCV002944251] Chr16:17259331 [GRCh38]
Chr16:17353188 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2545C>T (p.Pro849Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV002603126] Chr16:17117658 [GRCh38]
Chr16:17211515 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.822G>A (p.Lys274=) single nucleotide variant Desbuquois dysplasia 1 [RCV002588641] Chr16:17259079 [GRCh38]
Chr16:17352936 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2192C>G (p.Pro731Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV002944309] Chr16:17127697 [GRCh38]
Chr16:17221554 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.829C>T (p.Arg277Cys) single nucleotide variant Desbuquois dysplasia 1 [RCV002944318]|Inborn genetic diseases [RCV005301210] Chr16:17259072 [GRCh38]
Chr16:17352929 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1659C>T (p.Thr553=) single nucleotide variant Desbuquois dysplasia 1 [RCV002607697] Chr16:17138460 [GRCh38]
Chr16:17232317 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2674C>T (p.Arg892Trp) single nucleotide variant Desbuquois dysplasia 1 [RCV002610367] Chr16:17108901 [GRCh38]
Chr16:17202758 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1074C>A (p.Ile358=) single nucleotide variant Desbuquois dysplasia 1 [RCV002608835] Chr16:17200494 [GRCh38]
Chr16:17294351 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2557+20A>G single nucleotide variant Desbuquois dysplasia 1 [RCV003073303] Chr16:17117626 [GRCh38]
Chr16:17211483 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1601C>T (p.Thr534Met) single nucleotide variant Desbuquois dysplasia 1 [RCV003071034] Chr16:17138518 [GRCh38]
Chr16:17232375 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2028-16dup duplication Desbuquois dysplasia 1 [RCV003067618] Chr16:17127876..17127877 [GRCh38]
Chr16:17221733..17221734 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.975G>A (p.Pro325=) single nucleotide variant Desbuquois dysplasia 1 [RCV002613162] Chr16:17200593 [GRCh38]
Chr16:17294450 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1852G>A (p.Gly618Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV002942763]|Inborn genetic diseases [RCV004067266] Chr16:17134648 [GRCh38]
Chr16:17228505 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2038A>G (p.Met680Val) single nucleotide variant Desbuquois dysplasia 1 [RCV002635259] Chr16:17127851 [GRCh38]
Chr16:17221708 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2145G>A (p.Leu715=) single nucleotide variant Desbuquois dysplasia 1 [RCV002612205] Chr16:17127744 [GRCh38]
Chr16:17221601 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.630G>A (p.Gly210=) single nucleotide variant Desbuquois dysplasia 1 [RCV002612322] Chr16:17259271 [GRCh38]
Chr16:17353128 [GRCh37]
Chr16:16p12.3		 benign
NM_022166.4(XYLT1):c.2878T>C (p.Ter960Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV003066152] Chr16:17108697 [GRCh38]
Chr16:17202554 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2337C>T (p.Thr779=) single nucleotide variant Desbuquois dysplasia 1 [RCV002612409] Chr16:17117866 [GRCh38]
Chr16:17211723 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2703G>A (p.Ala901=) single nucleotide variant Desbuquois dysplasia 1 [RCV002612447] Chr16:17108872 [GRCh38]
Chr16:17202729 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2418A>G (p.Thr806=) single nucleotide variant Desbuquois dysplasia 1 [RCV002605509] Chr16:17117785 [GRCh38]
Chr16:17211642 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.195G>C (p.Arg65=) single nucleotide variant Desbuquois dysplasia 1 [RCV002610581] Chr16:17470602 [GRCh38]
Chr16:17564459 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1969C>T (p.Arg657Cys) single nucleotide variant Inborn genetic diseases [RCV002652837] Chr16:17134531 [GRCh38]
Chr16:17228388 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.754G>A (p.Asp252Asn) single nucleotide variant Inborn genetic diseases [RCV003280974] Chr16:17259147 [GRCh38]
Chr16:17353004 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2639G>A (p.Ser880Asn) single nucleotide variant not provided [RCV003229310] Chr16:17108936 [GRCh38]
Chr16:17202793 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2765C>T (p.Thr922Met) single nucleotide variant Inborn genetic diseases [RCV003190366] Chr16:17108810 [GRCh38]
Chr16:17202667 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.962T>G (p.Met321Arg) single nucleotide variant Desbuquois dysplasia 2 [RCV003139382] Chr16:17200606 [GRCh38]
Chr16:17294463 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.176C>T (p.Pro59Leu) single nucleotide variant Inborn genetic diseases [RCV003193213] Chr16:17470621 [GRCh38]
Chr16:17564478 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2413T>A (p.Phe805Ile) single nucleotide variant not provided [RCV003229284] Chr16:17117790 [GRCh38]
Chr16:17211647 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.14C>T (p.Pro5Leu) single nucleotide variant Inborn genetic diseases [RCV003264386] Chr16:17470783 [GRCh38]
Chr16:17564640 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15489453-18321582)x1 copy number loss 16p13.11 microdeletion syndrome [RCV003329551] Chr16:15489453..18321582 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_022166.4(XYLT1):c.2267T>G (p.Phe756Cys) single nucleotide variant Desbuquois dysplasia 2 [RCV003340852] Chr16:17117936 [GRCh38]
Chr16:17211793 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.9G>A (p.Ala3=) single nucleotide variant Desbuquois dysplasia 1 [RCV003875283] Chr16:17470788 [GRCh38]
Chr16:17564645 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1371-15C>G single nucleotide variant Desbuquois dysplasia 1 [RCV003874355] Chr16:17141384 [GRCh38]
Chr16:17235241 [GRCh37]
Chr16:16p12.3		 likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15509407-18779589)x3 copy number gain not provided [RCV003485102] Chr16:15509407..18779589 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_022166.4(XYLT1):c.1218G>A (p.Arg406=) single nucleotide variant Desbuquois dysplasia 1 [RCV003598174]|not provided [RCV003411282] Chr16:17198283 [GRCh38]
Chr16:17292140 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.228A>T (p.Ala76=) single nucleotide variant Desbuquois dysplasia 1 [RCV003598817] Chr16:17470569 [GRCh38]
Chr16:17564426 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.888G>A (p.Lys296=) single nucleotide variant Desbuquois dysplasia 1 [RCV003599016] Chr16:17259013 [GRCh38]
Chr16:17352870 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.-110_280del (p.Met1_Gln94del) deletion Desbuquois dysplasia 1 [RCV003494646] Chr16:17470517..17470906 [GRCh38]
Chr16:17564374..17564763 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.2856C>T (p.Val952=) single nucleotide variant Desbuquois dysplasia 1 [RCV003597677] Chr16:17108719 [GRCh38]
Chr16:17202576 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.351C>T (p.Pro117=) single nucleotide variant Desbuquois dysplasia 1 [RCV003494850] Chr16:17470446 [GRCh38]
Chr16:17564303 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2566C>T (p.Leu856=) single nucleotide variant Desbuquois dysplasia 1 [RCV003598447] Chr16:17109009 [GRCh38]
Chr16:17202866 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2098A>G (p.Ile700Val) single nucleotide variant Desbuquois dysplasia 1 [RCV003598546] Chr16:17127791 [GRCh38]
Chr16:17221648 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1734C>T (p.Asp578=) single nucleotide variant Desbuquois dysplasia 1 [RCV003598811] Chr16:17138385 [GRCh38]
Chr16:17232242 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2607G>A (p.Glu869=) single nucleotide variant Desbuquois dysplasia 1 [RCV003597787] Chr16:17108968 [GRCh38]
Chr16:17202825 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2557+8C>A single nucleotide variant Desbuquois dysplasia 1 [RCV003597841]|XYLT1-related disorder [RCV004757604] Chr16:17117638 [GRCh38]
Chr16:17211495 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1606C>T (p.Leu536=) single nucleotide variant Desbuquois dysplasia 1 [RCV003599463] Chr16:17138513 [GRCh38]
Chr16:17232370 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1464C>T (p.Ala488=) single nucleotide variant Desbuquois dysplasia 1 [RCV003496255] Chr16:17141276 [GRCh38]
Chr16:17235133 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.364-9A>G single nucleotide variant Desbuquois dysplasia 1 [RCV003598854] Chr16:17358059 [GRCh38]
Chr16:17451916 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.906C>T (p.Pro302=) single nucleotide variant Desbuquois dysplasia 1 [RCV003496490] Chr16:17258995 [GRCh38]
Chr16:17352852 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1985G>T (p.Arg662Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV003599147] Chr16:17134515 [GRCh38]
Chr16:17228372 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.22C>G (p.Arg8Gly) single nucleotide variant Desbuquois dysplasia 1 [RCV003597562] Chr16:17470775 [GRCh38]
Chr16:17564632 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1221C>T (p.Asp407=) single nucleotide variant Desbuquois dysplasia 1 [RCV003598478] Chr16:17198280 [GRCh38]
Chr16:17292137 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1764+9_1764+10dup duplication Desbuquois dysplasia 1 [RCV003597838] Chr16:17138344..17138345 [GRCh38]
Chr16:17232201..17232202 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1677G>A (p.Leu559=) single nucleotide variant Desbuquois dysplasia 1 [RCV003598325] Chr16:17138442 [GRCh38]
Chr16:17232299 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1236C>T (p.Thr412=) single nucleotide variant Desbuquois dysplasia 1 [RCV003598310] Chr16:17198265 [GRCh38]
Chr16:17292122 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2733C>A (p.Gly911=) single nucleotide variant Desbuquois dysplasia 1 [RCV003598861] Chr16:17108842 [GRCh38]
Chr16:17202699 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1588-9C>T single nucleotide variant Desbuquois dysplasia 1 [RCV003496540] Chr16:17138540 [GRCh38]
Chr16:17232397 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1510G>T (p.Glu504Ter) single nucleotide variant Desbuquois dysplasia 1 [RCV003598386] Chr16:17141230 [GRCh38]
Chr16:17235087 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.183G>A (p.Pro61=) single nucleotide variant Desbuquois dysplasia 1 [RCV003599525] Chr16:17470614 [GRCh38]
Chr16:17564471 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2223+17T>A single nucleotide variant Desbuquois dysplasia 1 [RCV003496121] Chr16:17127649 [GRCh38]
Chr16:17221506 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.69G>A (p.Thr23=) single nucleotide variant Desbuquois dysplasia 1 [RCV003598439] Chr16:17470728 [GRCh38]
Chr16:17564585 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.537T>C (p.Pro179=) single nucleotide variant Desbuquois dysplasia 1 [RCV003597949] Chr16:17259364 [GRCh38]
Chr16:17353221 [GRCh37]
Chr16:16p12.3		 likely benign
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191) copy number loss Autism spectrum disorder [RCV003883423] Chr16:15184811..18708191 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
NM_022166.4(XYLT1):c.1806C>T (p.Ala602=) single nucleotide variant Desbuquois dysplasia 1 [RCV003598559] Chr16:17134694 [GRCh38]
Chr16:17228551 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.649C>T (p.Leu217=) single nucleotide variant Desbuquois dysplasia 1 [RCV003599065] Chr16:17259252 [GRCh38]
Chr16:17353109 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1764+13C>T single nucleotide variant Desbuquois dysplasia 1 [RCV003598196] Chr16:17138342 [GRCh38]
Chr16:17232199 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2319G>A (p.Gly773=) single nucleotide variant Desbuquois dysplasia 1 [RCV003598570] Chr16:17117884 [GRCh38]
Chr16:17211741 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.143G>T (p.Gly48Val) single nucleotide variant Desbuquois dysplasia 1 [RCV003825109] Chr16:17470654 [GRCh38]
Chr16:17564511 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2181C>T (p.Ile727=) single nucleotide variant Desbuquois dysplasia 1 [RCV003598689] Chr16:17127708 [GRCh38]
Chr16:17221565 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.981A>G (p.Arg327=) single nucleotide variant Desbuquois dysplasia 1 [RCV003495714] Chr16:17200587 [GRCh38]
Chr16:17294444 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2739G>A (p.Met913Ile) single nucleotide variant Desbuquois dysplasia 1 [RCV003497102]|Inborn genetic diseases [RCV004963713] Chr16:17108836 [GRCh38]
Chr16:17202693 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1008C>T (p.Gly336=) single nucleotide variant Desbuquois dysplasia 1 [RCV003849926] Chr16:17200560 [GRCh38]
Chr16:17294417 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2481C>T (p.His827=) single nucleotide variant Desbuquois dysplasia 1 [RCV003811044] Chr16:17117722 [GRCh38]
Chr16:17211579 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1284C>A (p.Pro428=) single nucleotide variant Desbuquois dysplasia 1 [RCV003818290] Chr16:17198217 [GRCh38]
Chr16:17292074 [GRCh37]
Chr16:16p12.3		 likely benign
GRCh37/hg19 16p12.3(chr16:16855348-18172468)x1 copy number loss not specified [RCV003987160] Chr16:16855348..18172468 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1587+8T>A single nucleotide variant Desbuquois dysplasia 1 [RCV003845991] Chr16:17141145 [GRCh38]
Chr16:17235002 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.952G>A (p.Val318Met) single nucleotide variant Desbuquois dysplasia 1 [RCV003863442] Chr16:17200616 [GRCh38]
Chr16:17294473 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.799G>T (p.Ala267Ser) single nucleotide variant Inborn genetic diseases [RCV004485760] Chr16:17259102 [GRCh38]
Chr16:17352959 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.75G>C (p.Leu25=) single nucleotide variant XYLT1-related disorder [RCV003909688] Chr16:17470722 [GRCh38]
Chr16:17564579 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.69G>C (p.Thr23=) single nucleotide variant XYLT1-related disorder [RCV003937347] Chr16:17470728 [GRCh38]
Chr16:17564585 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.256GGA[4] (p.Gly90del) microsatellite XYLT1-related disorder [RCV003929730] Chr16:17470527..17470529 [GRCh38]
Chr16:17564384..17564386 [GRCh37]
Chr16:16p12.3		 benign
GRCh37/hg19 16p13.11-12.3(chr16:15458733-18188719)x1 copy number loss not provided [RCV003885475] Chr16:15458733..18188719 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_022166.4(XYLT1):c.802C>G (p.Leu268Val) single nucleotide variant Inborn genetic diseases [RCV004485761] Chr16:17259099 [GRCh38]
Chr16:17352956 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15477144-18244322)x2 copy number loss not provided [RCV004577506] Chr16:15477144..18244322 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
NM_022166.4(XYLT1):c.578del (p.Leu192_Leu193insTer) deletion Desbuquois dysplasia 2 [RCV004560497] Chr16:17259323 [GRCh38]
Chr16:17353180 [GRCh37]
Chr16:16p12.3		 likely pathogenic
NC_000016.9:g.(?_17292049)_(17451927_?)del deletion Desbuquois dysplasia 1 [RCV004582757] Chr16:17292049..17451927 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.658G>A (p.Gly220Arg) single nucleotide variant Inborn genetic diseases [RCV004685882] Chr16:17259243 [GRCh38]
Chr16:17353100 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.533A>T (p.Gln178Leu) single nucleotide variant Inborn genetic diseases [RCV004685883] Chr16:17259368 [GRCh38]
Chr16:17353225 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1010G>A (p.Arg337His) single nucleotide variant Inborn genetic diseases [RCV004685887] Chr16:17200558 [GRCh38]
Chr16:17294415 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1108C>T (p.Gln370Ter) single nucleotide variant Desbuquois dysplasia 2 [RCV004699901] Chr16:17198393 [GRCh38]
Chr16:17292250 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.2714G>A (p.Trp905Ter) single nucleotide variant not provided [RCV004761410] Chr16:17108861 [GRCh38]
Chr16:17202718 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1621C>A (p.His541Asn) single nucleotide variant Inborn genetic diseases [RCV004967591] Chr16:17138498 [GRCh38]
Chr16:17232355 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2209C>T (p.Leu737Phe) single nucleotide variant Inborn genetic diseases [RCV004967592] Chr16:17127680 [GRCh38]
Chr16:17221537 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1532A>G (p.Asp511Gly) single nucleotide variant Inborn genetic diseases [RCV004967589] Chr16:17141208 [GRCh38]
Chr16:17235065 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.545C>T (p.Ala182Val) single nucleotide variant Inborn genetic diseases [RCV004967587] Chr16:17259356 [GRCh38]
Chr16:17353213 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2066A>G (p.Tyr689Cys) single nucleotide variant Inborn genetic diseases [RCV004967586] Chr16:17127823 [GRCh38]
Chr16:17221680 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2389A>T (p.Ile797Phe) single nucleotide variant Inborn genetic diseases [RCV004967585] Chr16:17117814 [GRCh38]
Chr16:17211671 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2656G>A (p.Ala886Thr) single nucleotide variant Inborn genetic diseases [RCV004967582] Chr16:17108919 [GRCh38]
Chr16:17202776 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1540G>A (p.Val514Met) single nucleotide variant Inborn genetic diseases [RCV004967588] Chr16:17141200 [GRCh38]
Chr16:17235057 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2702C>T (p.Ala901Val) single nucleotide variant Inborn genetic diseases [RCV004967594] Chr16:17108873 [GRCh38]
Chr16:17202730 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.679A>G (p.Ser227Gly) single nucleotide variant Inborn genetic diseases [RCV004967584] Chr16:17259222 [GRCh38]
Chr16:17353079 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1056A>C (p.Lys352Asn) single nucleotide variant Inborn genetic diseases [RCV004967590] Chr16:17200512 [GRCh38]
Chr16:17294369 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1363A>G (p.Asn455Asp) single nucleotide variant Inborn genetic diseases [RCV004967593] Chr16:17158836 [GRCh38]
Chr16:17252693 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.107G>A (p.Ser36Asn) single nucleotide variant Desbuquois dysplasia 1 [RCV005196382] Chr16:17470690 [GRCh38]
Chr16:17564547 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1944A>G (p.Thr648=) single nucleotide variant Desbuquois dysplasia 1 [RCV005088702] Chr16:17134556 [GRCh38]
Chr16:17228413 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1146C>T (p.Arg382=) single nucleotide variant Desbuquois dysplasia 1 [RCV005106559] Chr16:17198355 [GRCh38]
Chr16:17292212 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.846G>C (p.Glu282Asp) single nucleotide variant Desbuquois dysplasia 1 [RCV005171628] Chr16:17259055 [GRCh38]
Chr16:17352912 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.380C>T (p.Pro127Leu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV005019778] Chr16:17358034 [GRCh38]
Chr16:17451891 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1588-6C>T single nucleotide variant Desbuquois dysplasia 1 [RCV005060730] Chr16:17138537 [GRCh38]
Chr16:17232394 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1765-4A>G single nucleotide variant Desbuquois dysplasia 1 [RCV005171791] Chr16:17134739 [GRCh38]
Chr16:17228596 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2734G>A (p.Gly912Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV005190162] Chr16:17108841 [GRCh38]
Chr16:17202698 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1911G>A (p.Glu637=) single nucleotide variant Desbuquois dysplasia 1 [RCV005122110] Chr16:17134589 [GRCh38]
Chr16:17228446 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2027+14G>A single nucleotide variant Desbuquois dysplasia 1 [RCV005080418] Chr16:17134459 [GRCh38]
Chr16:17228316 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.207C>T (p.Asp69=) single nucleotide variant Desbuquois dysplasia 1 [RCV005164636] Chr16:17470590 [GRCh38]
Chr16:17564447 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1900G>C (p.Val634Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV005083396] Chr16:17134600 [GRCh38]
Chr16:17228457 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1887C>T (p.Ser629=) single nucleotide variant Desbuquois dysplasia 1 [RCV005081384] Chr16:17134613 [GRCh38]
Chr16:17228470 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.942C>T (p.Asp314=) single nucleotide variant Desbuquois dysplasia 1 [RCV005193968] Chr16:17200626 [GRCh38]
Chr16:17294483 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1185C>T (p.Ala395=) single nucleotide variant Desbuquois dysplasia 1 [RCV005168938] Chr16:17198316 [GRCh38]
Chr16:17292173 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2778C>T (p.Ala926=) single nucleotide variant Desbuquois dysplasia 1 [RCV005169341] Chr16:17108797 [GRCh38]
Chr16:17202654 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.456C>T (p.Asn152=) single nucleotide variant Desbuquois dysplasia 1 [RCV005185495] Chr16:17259445 [GRCh38]
Chr16:17353302 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.1629del (p.Asp543fs) deletion Desbuquois dysplasia 1 [RCV005134389] Chr16:17138490 [GRCh38]
Chr16:17232347 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_022166.4(XYLT1):c.127G>C (p.Gly43Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV005077884] Chr16:17470670 [GRCh38]
Chr16:17564527 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1617C>T (p.Ser539=) single nucleotide variant Desbuquois dysplasia 1 [RCV005081765] Chr16:17138502 [GRCh38]
Chr16:17232359 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2673A>G (p.Ala891=) single nucleotide variant Desbuquois dysplasia 1 [RCV005180151] Chr16:17108902 [GRCh38]
Chr16:17202759 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.2519C>T (p.Ala840Val) single nucleotide variant Desbuquois dysplasia 1 [RCV005071558] Chr16:17117684 [GRCh38]
Chr16:17211541 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1562A>G (p.Tyr521Cys) single nucleotide variant Desbuquois dysplasia 1 [RCV005164935] Chr16:17141178 [GRCh38]
Chr16:17235035 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1874C>G (p.Pro625Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV005167176] Chr16:17134626 [GRCh38]
Chr16:17228483 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.557C>G (p.Pro186Arg) single nucleotide variant Desbuquois dysplasia 1 [RCV005176335] Chr16:17259344 [GRCh38]
Chr16:17353201 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.403-9C>G single nucleotide variant Desbuquois dysplasia 1 [RCV005075702] Chr16:17259507 [GRCh38]
Chr16:17353364 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.913+15C>G single nucleotide variant Desbuquois dysplasia 1 [RCV005177930] Chr16:17258973 [GRCh38]
Chr16:17352830 [GRCh37]
Chr16:16p12.3		 likely benign
NM_022166.4(XYLT1):c.557C>T (p.Pro186Leu) single nucleotide variant Inborn genetic diseases [RCV005297010] Chr16:17259344 [GRCh38]
Chr16:17353201 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1354G>A (p.Gly452Ser) single nucleotide variant Inborn genetic diseases [RCV005297012] Chr16:17158845 [GRCh38]
Chr16:17252702 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.1727C>T (p.Pro576Leu) single nucleotide variant Inborn genetic diseases [RCV005313392] Chr16:17138392 [GRCh38]
Chr16:17232249 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.191G>T (p.Arg64Leu) single nucleotide variant Inborn genetic diseases [RCV005313391] Chr16:17470606 [GRCh38]
Chr16:17564463 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_022166.4(XYLT1):c.2421C>A (p.His807Gln) single nucleotide variant Inborn genetic diseases [RCV005297011] Chr16:17117782 [GRCh38]
Chr16:17211639 [GRCh37]
Chr16:16p12.3		 uncertain significance
Single allele deletion 16p12.3p13.12 deletion [RCV005256505] Chr16:15231215..18078611 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3777
Count of miRNA genes:1289
Interacting mature miRNAs:1661
Transcripts:ENST00000261381, ENST00000563403, ENST00000568226, ENST00000575674
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
597039511GWAS1135585_Hrisky sexual behaviour measurement QTL GWAS1135585 (human)3e-08risky sexual behaviour measurement161746902617469027Human
628497522GWAS2405751_Hsmoking cessation QTL GWAS2405751 (human)3e-09smoking cessation161746510917465110Human
598003873GWAS1723172_Hsexual activity behaviour attribute QTL GWAS1723172 (human)3e-08sexual activity behaviour attribute161746902617469027Human
407289152GWAS938128_Hbody height QTL GWAS938128 (human)1e-24body height161729066717290668Human
407234370GWAS883346_Hbone density QTL GWAS883346 (human)9e-09bone density161710217617102177Human
628643697GWAS2551926_Hgut microbiome measurement, breastfeeding duration QTL GWAS2551926 (human)1e-08lactation duration (VT:1000653)161724801317248014Human
616560310GWAS1956893_Hlevel of neurocan core protein in blood serum QTL GWAS1956893 (human)4e-38level of neurocan core protein in blood serum161736993317369934Human
597047455GWAS1143529_Hcranial vault morphology measurement QTL GWAS1143529 (human)0.0000006cranial vault morphology measurement161743701317437014Human
597128348GWAS1224422_Hinterferon gamma measurement, response to stimulus QTL GWAS1224422 (human)8e-08interferon gamma measurement, response to stimulus161740470617404707Human
597336713GWAS1432787_HRS-10-hydroxywarfarin measurement QTL GWAS1432787 (human)0.0000003RS-10-hydroxywarfarin measurement161739390117393902Human
597064078GWAS1160152_Hresponse to tenofovir QTL GWAS1160152 (human)0.000007response to tenofovir161728992017289921Human
597050511GWAS1146585_HDuchenne muscular dystrophy, disease progression measurement QTL GWAS1146585 (human)5e-08Duchenne muscular dystrophy, disease progression measurement161726897217268973Human
628557928GWAS2466157_Hlevel of leukocyte-associated immunoglobulin-like receptor 2 in blood serum QTL GWAS2466157 (human)2e-31level of leukocyte-associated immunoglobulin-like receptor 2 in blood serum161744717417447175Human
406956385GWAS605361_HHETE measurement QTL GWAS605361 (human)3e-09HETE measurement161739102517391026Human
596965566GWAS1085085_Hpsoriasis QTL GWAS1085085 (human)0.0000008psoriasis161743285617432857Human
406950512GWAS599488_Hbiglycan measurement QTL GWAS599488 (human)5e-13biglycan measurement161731183617311837Human
597070245GWAS1166319_Hmosquito bite reaction size measurement QTL GWAS1166319 (human)0.000006mosquito bite reaction size measurement161727400517274006Human
406925682GWAS574658_Hdiastolic blood pressure, systolic blood pressure QTL GWAS574658 (human)1e-08diastolic blood pressure, systolic blood pressure161733287117332872Human
407302782GWAS951758_Htype 2 diabetes mellitus QTL GWAS951758 (human)5e-09type 2 diabetes mellitus161716633417166335Human
407137148GWAS786124_Hinterferon gamma measurement, response to stimulus QTL GWAS786124 (human)8e-08interferon gamma measurement, response to stimulus161740470617404707Human
616504709GWAS1901292_Hlevel of podocalyxin-like protein 2 in blood serum QTL GWAS1901292 (human)4e-49level of podocalyxin-like protein 2 in blood serum161746902617469027Human
598142107GWAS1828835_Hbone tissue density QTL GWAS1828835 (human)9e-09bone tissue density161710217617102177Human
616530050GWAS1926633_HIGF-1 measurement QTL GWAS1926633 (human)6e-12IGF-1 measurement161738299617382997Human
628437323GWAS2345552_HDuchenne muscular dystrophy, disease progression measurement QTL GWAS2345552 (human)5e-08Duchenne muscular dystrophy, disease progression measurementdisease progression measurement (CMO:0001110)161726897217268973Human
406991996GWAS640972_Hresponse to tenofovir QTL GWAS640972 (human)0.000007response to tenofovir161728992017289921Human
628587315GWAS2495544_Hpsoriasis QTL GWAS2495544 (human)0.0000008psoriasis161743285617432857Human
616566149GWAS1962732_Hlevel of nodal modulator 1 in blood serum QTL GWAS1962732 (human)1e-60level of nodal modulator 1 in blood serum161732087517320876Human
597029842GWAS1125916_Hsensory perception of sweet taste QTL GWAS1125916 (human)0.000009sensory perception of sweet taste161738020317380204Human
628630335GWAS2538564_Hsexual activity behaviour attribute QTL GWAS2538564 (human)3e-08sexual activity behaviour attribute161746902617469027Human
597990632GWAS1709931_Htrait in response to tenofovir (anhydrous) QTL GWAS1709931 (human)0.000007trait in response to tenofovir (anhydrous)161728992017289921Human
616554482GWAS1951065_Hbiglycan measurement QTL GWAS1951065 (human)1e-94biglycan measurement161747045417470455Human
407003410GWAS652386_Hinterleukin 7 measurement QTL GWAS652386 (human)0.000001interleukin 7 measurement161745100917451010Human
406942227GWAS591203_HTourette syndrome QTL GWAS591203 (human)0.000009Tourette syndrome161739926717399268Human
628867375GWAS2775604_Hdiastolic blood pressure, systolic blood pressure QTL GWAS2775604 (human)1e-08arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)161733287117332872Human
628870446GWAS2778675_HHETE measurement QTL GWAS2778675 (human)3e-09HETE measurement161739102517391026Human
597062848GWAS1158922_Hlip morphology measurement QTL GWAS1158922 (human)0.0000001lip morphology measurement161743036817430369Human
597989628GWAS1708927_Hbody height QTL GWAS1708927 (human)0.0000005body height161742300617423007Human
406888473GWAS537449_Hmosquito bite reaction size measurement QTL GWAS537449 (human)0.000006mosquito bite reaction size measurement161727400517274006Human
407288858GWAS937834_Hbody height QTL GWAS937834 (human)2e-08body height161721626217216263Human
616556252GWAS1952835_Hbiglycan measurement QTL GWAS1952835 (human)2e-15biglycan measurement161731182717311828Human
628998942GWAS2907171_Hheart rate QTL GWAS2907171 (human)1e-12heart rate161733279817332799Human
597353971GWAS1450045_Hbody height QTL GWAS1450045 (human)2e-08body height161721626217216263Human
406890537GWAS539513_Hbody height QTL GWAS539513 (human)0.0000005body height161742300617423007Human
597990095GWAS1709394_Hlip morphology trait QTL GWAS1709394 (human)0.0000001lip morphology trait161743036817430369Human
597153787GWAS1249861_Hpsoriasis QTL GWAS1249861 (human)0.0000008psoriasis161743285617432857Human
597353972GWAS1450046_Hbody height QTL GWAS1450046 (human)6e-16body height161726464417264645Human
597353973GWAS1450047_Hbody height QTL GWAS1450047 (human)1e-24body height161729066717290668Human
617136572GWAS2154071_Hlevel of nodal modulator 1 in blood serum QTL GWAS2154071 (human)1e-60level of nodal modulator 1 in blood serum161732087517320876Human
406920248GWAS569224_Hrisky sexual behaviour measurement QTL GWAS569224 (human)3e-08risky sexual behaviour measurement161746902617469027Human
406904122GWAS553098_Hdiastolic blood pressure, systolic blood pressure QTL GWAS553098 (human)0.0000008diastolic blood pressure, systolic blood pressure161733287117332872Human
407289145GWAS938121_Hbody height QTL GWAS938121 (human)6e-16body height161726464417264645Human
616568388GWAS1964971_Hlevel of leukocyte-associated immunoglobulin-like receptor 2 in blood serum QTL GWAS1964971 (human)2e-31level of leukocyte-associated immunoglobulin-like receptor 2 in blood serum161744717417447175Human
406952651GWAS601627_Hpathological gambling QTL GWAS601627 (human)0.000007impulsivity behavior trait (VT:0010473)161724386717243868Human
597612820GWAS1669680_Hheart rate QTL GWAS1669680 (human)1e-12heart rate161733279817332799Human
628654834GWAS2563063_Hcolor vision disorder QTL GWAS2563063 (human)9e-08color vision disorder161737519717375198Human
628858865GWAS2767094_Hsmoking initiation QTL GWAS2767094 (human)3e-45behavior trait (VT:0010442)161746902617469027Human
628654835GWAS2563064_Hcolor vision disorder QTL GWAS2563064 (human)0.0000001color vision disorder161734034717340348Human
598111274GWAS1820157_Holigodendroglioma QTL GWAS1820157 (human)0.000008oligodendroglioma161732305917323060Human
597319188GWAS1415262_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1415262 (human)1e-08diastolic blood pressure, systolic blood pressure161733287117332872Human
628850677GWAS2758906_HRS-10-hydroxywarfarin measurement QTL GWAS2758906 (human)0.0000003RS-10-hydroxywarfarin measurement161739390117393902Human
598108457GWAS1817340_Hvascular dementia QTL GWAS1817340 (human)0.000009vascular dementia161735752217357523Human
407194327GWAS843303_Hcolor vision disorder QTL GWAS843303 (human)0.0000001color vision disorder161734034717340348Human
407194326GWAS843302_Hcolor vision disorder QTL GWAS843302 (human)9e-08color vision disorder161737519717375198Human
628875757GWAS2783986_Hbiglycan measurement QTL GWAS2783986 (human)5e-13biglycan measurement161731183617311837Human
407093460GWAS742436_Herectile dysfunction QTL GWAS742436 (human)0.000009erectile dysfunction161716383617163837Human
597344013GWAS1440087_Hcolor vision disorder QTL GWAS1440087 (human)0.0000001color vision disorder161734034717340348Human
407059419GWAS708395_Hcranial vault morphology measurement QTL GWAS708395 (human)0.0000006cranial vault morphology measurement161743701317437014Human
628427501GWAS2335730_Hcalvaria morphology trait QTL GWAS2335730 (human)0.0000006calvaria morphology trait161743701317437014Human
407150045GWAS799021_HDuchenne muscular dystrophy, disease progression measurement QTL GWAS799021 (human)5e-08Duchenne muscular dystrophy, disease progression measurement161726897217268973Human
628437487GWAS2345716_HDuchenne muscular dystrophy, disease progression measurement QTL GWAS2345716 (human)0.0000002Duchenne muscular dystrophy, disease progression measurementdisease progression measurement (CMO:0001110)161726897217268973Human
617204562GWAS2185002_Hlevel of podocalyxin-like protein 2 in blood QTL GWAS2185002 (human)4e-49level of podocalyxin-like protein 2 in blood161746902617469027Human
616357922GWAS1842637_Hgut microbiome measurement, breastfeeding duration QTL GWAS1842637 (human)1e-08gut microbiome measurement, breastfeeding duration161724801317248014Human
598085382GWAS1804681_Hbone density QTL GWAS1804681 (human)9e-09bone density161710217617102177Human
597343803GWAS1439877_Hcolor vision disorder QTL GWAS1439877 (human)9e-08color vision disorder161737519717375198Human
629005273GWAS2913502_Hbody height QTL GWAS2913502 (human)6e-16body height161726464417264645Human
629005272GWAS2913501_Hbody height QTL GWAS2913501 (human)2e-08body height161721626217216263Human
629005274GWAS2913503_Hbody height QTL GWAS2913503 (human)1e-24body height161729066717290668Human
406935782GWAS584758_Hsmoking initiation QTL GWAS584758 (human)3e-45smoking initiation161746902617469027Human
407389408GWAS1038384_Hacute myeloid leukemia QTL GWAS1038384 (human)3e-10leukocyte integrity trait (VT:0010898)161711168717111688Human
407389409GWAS1038385_Hacute myeloid leukemia QTL GWAS1038385 (human)5e-09leukocyte integrity trait (VT:0010898)161711168717111688Human
597150780GWAS1246854_Hsmoking initiation QTL GWAS1246854 (human)3e-45smoking initiation161746902617469027Human
597183284GWAS1279358_HHETE measurement QTL GWAS1279358 (human)3e-09HETE measurement161739102517391026Human
597050424GWAS1146498_HDuchenne muscular dystrophy, disease progression measurement QTL GWAS1146498 (human)0.0000002Duchenne muscular dystrophy, disease progression measurement161726897217268973Human
617200249GWAS2180689_Hlevel of neurocan core protein in blood QTL GWAS2180689 (human)4e-38level of neurocan core protein in blood161736993317369934Human
616503566GWAS1900149_Hlevel of receptor-type tyrosine-protein phosphatase zeta in blood QTL GWAS1900149 (human)2e-54level of receptor-type tyrosine-protein phosphatase zeta in blood161731182717311828Human
407260149GWAS909125_Hsarcoidosis QTL GWAS909125 (human)0.00001sarcoidosis161717850017178501Human
628553920GWAS2462149_Hlevel of receptor-type tyrosine-protein phosphatase zeta in blood QTL GWAS2462149 (human)5e-17level of receptor-type tyrosine-protein phosphatase zeta in blood161741737217417373Human
597228582GWAS1324656_Hsmoking cessation QTL GWAS1324656 (human)3e-09smoking cessation161746510917465110Human
616547584GWAS1944167_Htenascin-R measurement QTL GWAS1944167 (human)8e-15tenascin-R measurement161732141317321414Human
407145723GWAS794699_HRS-10-hydroxywarfarin measurement QTL GWAS794699 (human)0.0000003RS-10-hydroxywarfarin measurement161739390117393902Human
628553911GWAS2462140_Hlevel of receptor-type tyrosine-protein phosphatase zeta in blood QTL GWAS2462140 (human)2e-54level of receptor-type tyrosine-protein phosphatase zeta in blood161731182717311828Human
628701626GWAS2609855_Htenascin-R measurement QTL GWAS2609855 (human)8e-15tenascin-R measurement161732141317321414Human
598007399GWAS1726698_Hcalvaria morphology trait QTL GWAS1726698 (human)0.0000006calvaria morphology trait161743701317437014Human
407149440GWAS798416_HDuchenne muscular dystrophy, disease progression measurement QTL GWAS798416 (human)0.0000002Duchenne muscular dystrophy, disease progression measurement161726897217268973Human
406900108GWAS549084_Hlip morphology measurement QTL GWAS549084 (human)0.0000001lip morphology measurement161743036817430369Human
597022041GWAS1118115_Hinterleukin 7 measurement QTL GWAS1118115 (human)0.000001blood interleukin-7 amount (VT:0008604)161745100917451010Human
628755383GWAS2663612_Holigodendroglioma QTL GWAS2663612 (human)0.000009oligodendroglioma161732305917323060Human
597183318GWAS1279392_Hbiglycan measurement QTL GWAS1279392 (human)5e-13biglycan measurement161731183617311837Human
628682423GWAS2590652_Hsarcoidosis QTL GWAS2590652 (human)0.00001sarcoidosis161717850017178501Human
628712616GWAS2620845_Hbiglycan measurement QTL GWAS2620845 (human)2e-15biglycan measurement161731182717311828Human
628712621GWAS2620850_Hbiglycan measurement QTL GWAS2620850 (human)1e-94biglycan measurement161747045417470455Human
597342016GWAS1438090_Hsarcoidosis QTL GWAS1438090 (human)0.00001sarcoidosis161717850017178501Human
628863397GWAS2771626_Hdiastolic blood pressure, systolic blood pressure QTL GWAS2771626 (human)0.0000008arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)161733287117332872Human
597069129GWAS1165203_Hbody height QTL GWAS1165203 (human)0.0000005body height161742300617423007Human
407117211GWAS766187_Hsmoking cessation QTL GWAS766187 (human)3e-09smoking cessation161746510917465110Human
628753304GWAS2661533_Holigodendroglioma QTL GWAS2661533 (human)0.000008oligodendroglioma161732305917323060Human
616503898GWAS1900481_Hlevel of receptor-type tyrosine-protein phosphatase zeta in blood QTL GWAS1900481 (human)5e-17level of receptor-type tyrosine-protein phosphatase zeta in blood161741737217417373Human
407087269GWAS736245_Hsensory perception of sweet taste QTL GWAS736245 (human)0.000009sensory perception of sweet taste161738020317380204Human
628752017GWAS2660246_Hvascular dementia QTL GWAS2660246 (human)0.000009vascular dementia161735752217357523Human
628531359GWAS2439588_HIGF-1 measurement QTL GWAS2439588 (human)6e-12IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)161738299617382997Human
597207156GWAS1303230_Htype 2 diabetes mellitus QTL GWAS1303230 (human)5e-09type 2 diabetes mellitus161716633417166335Human
598046281GWAS1765580_Hbody height QTL GWAS1765580 (human)6e-16body height161726464417264645Human
598046280GWAS1765579_Hbody height QTL GWAS1765579 (human)2e-08body height161721626217216263Human
628771223GWAS2679452_Hinterferon gamma measurement, response to stimulus QTL GWAS2679452 (human)8e-08blood interferon-gamma amount (VT:0008551)mononuclear cell interferon gamma expression (CMO:0003222)161740470617404707Human
598046282GWAS1765581_Hbody height QTL GWAS1765581 (human)1e-24body height161729066717290668Human
598110806GWAS1819689_Holigodendroglioma QTL GWAS1819689 (human)0.000009oligodendroglioma161732305917323060Human
598027607GWAS1746906_Hheart rate QTL GWAS1746906 (human)1e-12heart rate161733279817332799Human
617198141GWAS2178581_Hlevel of nodal modulator 1 in blood QTL GWAS2178581 (human)1e-60level of nodal modulator 1 in blood161732087517320876Human
597135971GWAS1232045_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1232045 (human)0.0000008diastolic blood pressure, systolic blood pressure161733287117332872Human
407299250GWAS948226_Hspondylosis QTL GWAS948226 (human)0.000005spondylosis161735414317354144Human
617136189GWAS2153688_Hlevel of podocalyxin-like protein 2 in blood serum QTL GWAS2153688 (human)4e-49level of podocalyxin-like protein 2 in blood serum161746902617469027Human
597353571GWAS1449645_Hbone density QTL GWAS1449645 (human)9e-09bone density161710217617102177Human
597099116GWAS1195190_Hspondylosis QTL GWAS1195190 (human)0.000005spondylosis161735414317354144Human

Markers in Region
D16S3103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371617,473,552 - 17,473,782UniSTSGRCh37
Build 361617,381,053 - 17,381,283RGDNCBI36
Celera1617,015,229 - 17,015,459RGD
Cytogenetic Map16p12.3UniSTS
HuRef1616,475,178 - 16,475,410UniSTS
Marshfield Genetic Map1632.07UniSTS
Marshfield Genetic Map1632.07RGD
Genethon Genetic Map1631.1UniSTS
TNG Radiation Hybrid Map169682.0UniSTS
deCODE Assembly Map1637.97UniSTS
Stanford-G3 RH Map16762.0UniSTS
GeneMap99-GB4 RH Map16181.49UniSTS
NCBI RH Map16163.5UniSTS
GeneMap99-G3 RH Map16722.0UniSTS
D16S3017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371617,479,024 - 17,479,216UniSTSGRCh37
Build 361617,386,525 - 17,386,717RGDNCBI36
Celera1617,020,704 - 17,020,894RGD
Cytogenetic Map16p12.3UniSTS
HuRef1616,480,647 - 16,480,837UniSTS
Marshfield Genetic Map1632.07RGD
Marshfield Genetic Map1632.07UniSTS
Genethon Genetic Map1631.1UniSTS
Whitehead-YAC Contig Map16 UniSTS
SHGC-6763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371617,496,400 - 17,496,534UniSTSGRCh37
Build 361617,403,901 - 17,404,035RGDNCBI36
Celera1617,038,584 - 17,038,718RGD
Cytogenetic Map16p12.3UniSTS
HuRef1616,498,029 - 16,498,163UniSTS
TNG Radiation Hybrid Map169690.0UniSTS
G17888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371617,437,127 - 17,437,283UniSTSGRCh37
Build 361617,344,628 - 17,344,784RGDNCBI36
Celera1616,978,810 - 16,978,966RGD
Cytogenetic Map16p12.3UniSTS
HuRef1616,438,729 - 16,438,885UniSTS
RH98909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371617,232,176 - 17,232,315UniSTSGRCh37
Build 361617,139,677 - 17,139,816RGDNCBI36
Celera1616,774,086 - 16,774,225RGD
Cytogenetic Map16p12.3UniSTS
HuRef1616,234,399 - 16,234,538UniSTS
GeneMap99-GB4 RH Map16179.79UniSTS
RH121453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371617,552,523 - 17,552,797UniSTSGRCh37
Build 361617,460,024 - 17,460,298RGDNCBI36
Celera1617,094,469 - 17,094,743RGD
Cytogenetic Map16p12.3UniSTS
HuRef1616,554,130 - 16,554,404UniSTS
TNG Radiation Hybrid Map169651.0UniSTS
RH123101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371617,340,734 - 17,340,861UniSTSGRCh37
Build 361617,248,235 - 17,248,362RGDNCBI36
Celera1616,882,407 - 16,882,534RGD
Cytogenetic Map16p12.3UniSTS
HuRef1616,342,349 - 16,342,476UniSTS
TNG Radiation Hybrid Map1610034.0UniSTS
SHGC-142101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371617,212,130 - 17,212,403UniSTSGRCh37
Build 361617,119,631 - 17,119,904RGDNCBI36
Celera1616,754,110 - 16,754,379RGD
Cytogenetic Map16p12.3UniSTS
HuRef1616,214,414 - 16,214,687UniSTS
TNG Radiation Hybrid Map169983.0UniSTS
RH48694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371617,210,998 - 17,211,122UniSTSGRCh37
Build 361617,118,499 - 17,118,623RGDNCBI36
Celera1616,752,966 - 16,753,090RGD
Cytogenetic Map16p12.3UniSTS
HuRef1616,213,270 - 16,213,394UniSTS
GeneMap99-GB4 RH Map16168.26UniSTS
NCBI RH Map16155.7UniSTS
SHGC-154898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371617,407,035 - 17,407,322UniSTSGRCh37
Build 361617,314,536 - 17,314,823RGDNCBI36
Celera1616,948,720 - 16,949,007RGD
Cytogenetic Map16p12.3UniSTS
HuRef1616,408,661 - 16,408,948UniSTS
TNG Radiation Hybrid Map169729.0UniSTS
RH48006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371617,522,731 - 17,522,884UniSTSGRCh37
Build 361617,430,232 - 17,430,385RGDNCBI36
Celera1617,064,801 - 17,064,954RGD
Cytogenetic Map16p12.3UniSTS
HuRef1616,524,348 - 16,524,501UniSTS
GeneMap99-GB4 RH Map16181.49UniSTS
NCBI RH Map16161.3UniSTS
RH48339  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371617,441,422 - 17,441,563UniSTSGRCh37
Build 361617,348,923 - 17,349,064RGDNCBI36
Celera1616,983,106 - 16,983,247RGD
Cytogenetic Map16p12.3UniSTS
HuRef1616,443,025 - 16,443,166UniSTS
GeneMap99-GB4 RH Map16181.49UniSTS
NCBI RH Map16160.2UniSTS


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 2426 2788 2249 4951 1705 2265 6 608 1939 447 2263 7241 6448 47 3718 1 830 1700 1551 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI524006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ539163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM079589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP025808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000261381   ⟹   ENSP00000261381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1617,101,769 - 17,470,960 (-)Ensembl
Ensembl Acc Id: ENST00000563403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1617,355,228 - 17,369,725 (-)Ensembl
Ensembl Acc Id: ENST00000568226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1617,354,672 - 17,403,501 (-)Ensembl
Ensembl Acc Id: ENST00000575674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1617,198,031 - 17,259,028 (-)Ensembl
Ensembl Acc Id: ENST00000933757   ⟹   ENSP00000603816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1617,105,954 - 17,470,922 (-)Ensembl
RefSeq Acc Id: NM_022166   ⟹   NP_071449
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381617,101,769 - 17,470,960 (-)NCBI
GRCh371617,196,181 - 17,564,738 (-)ENTREZGENE
Build 361617,103,682 - 17,472,239 (-)NCBI Archive
HuRef1616,198,445 - 16,453,510 (-)ENTREZGENE
CHM1_11617,283,444 - 17,652,050 (-)NCBI
T2T-CHM13v2.01617,108,779 - 17,478,203 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023539   ⟹   XP_016879028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381617,117,112 - 17,470,960 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047434458   ⟹   XP_047290414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381617,101,769 - 17,470,960 (-)NCBI
RefSeq Acc Id: XM_054313620   ⟹   XP_054169595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01617,108,779 - 17,477,924 (-)NCBI
RefSeq Acc Id: XM_054313621   ⟹   XP_054169596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01617,122,843 - 17,477,924 (-)NCBI
RefSeq Acc Id: NP_071449   ⟸   NM_022166
- UniProtKB: Q9H1B6 (UniProtKB/Swiss-Prot),   Q86Y38 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016879028   ⟸   XM_017023539
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000261381   ⟸   ENST00000261381
RefSeq Acc Id: XP_047290414   ⟸   XM_047434458
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054169595   ⟸   XM_054313620
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054169596   ⟸   XM_054313621
- Peptide Label: isoform X2
Ensembl Acc Id: ENSP00000603816   ⟸   ENST00000933757

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86Y38-F1-model_v2 AlphaFold Q86Y38 1-959 view protein structure

Promoters
RGD ID:6811103
Promoter ID:HG_ACW:29494
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:XYLT1.BAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361617,260,234 - 17,260,734 (-)MPROMDB
RGD ID:6811104
Promoter ID:HG_ACW:29501
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:XYLT1.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361617,370,846 - 17,371,346 (-)MPROMDB
RGD ID:7231433
Promoter ID:EPDNEW_H21462
Type:initiation region
Name:XYLT1_1
Description:xylosyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381617,470,960 - 17,471,020EPDNEW
RGD ID:6793610
Promoter ID:HG_KWN:23149
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_022166
Position:
Human AssemblyChrPosition (strand)Source
Build 361617,471,951 - 17,472,451 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15516 AgrOrtholog
COSMIC XYLT1 COSMIC
Ensembl Genes ENSG00000103489 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000285395 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000261381 ENTREZGENE
  ENST00000261381.7 UniProtKB/Swiss-Prot
  ENST00000671765.2 UniProtKB/Swiss-Prot
GTEx ENSG00000103489 GTEx
  ENSG00000285395 GTEx
HGNC ID HGNC:15516 ENTREZGENE
Human Proteome Map XYLT1 Human Proteome Map
InterPro Glyco_trans_14 UniProtKB/Swiss-Prot
  XylT UniProtKB/Swiss-Prot
  XYLT UniProtKB/Swiss-Prot
KEGG Report hsa:64131 UniProtKB/Swiss-Prot
NCBI Gene 64131 ENTREZGENE
OMIM 608124 OMIM
PANTHER PTHR46025 UniProtKB/Swiss-Prot
  PTHR46025:SF2 UniProtKB/Swiss-Prot
Pfam Branch UniProtKB/Swiss-Prot
  Xylo_C UniProtKB/Swiss-Prot
PharmGKB PA37973 PharmGKB
RNAcentral URS0000D6D8E1 RNACentral
  URS0000E9BCEE RNACentral
UniProt A0A0A7KW96_HUMAN UniProtKB/TrEMBL
  A0A0C5BQN3_HUMAN UniProtKB/TrEMBL
  Q86Y38 ENTREZGENE
  Q9H1B6 ENTREZGENE
  XYLT1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q9H1B6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 XYLT1  xylosyltransferase 1    xylosyltransferase I  Symbol and/or name change 5135510 APPROVED