CHST3 (carbohydrate sulfotransferase 3) - Rat Genome Database
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Gene: CHST3 (carbohydrate sulfotransferase 3) Homo sapiens
Analyze
Symbol: CHST3
Name: carbohydrate sulfotransferase 3
RGD ID: 1352183
HGNC Page HGNC
Description: Exhibits chondroitin 6-sulfotransferase activity. Involved in chondroitin sulfate biosynthetic process. Predicted to localize to trans-Golgi network. Implicated in osteochondrodysplasia and spondyloepiphyseal dysplasia with congenital joint dislocations.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C6ST; C6ST-1; C6ST1; carbohydrate (chondroitin 6) sulfotransferase 3; chondroitin 6 sulfotransferase 1; chondroitin 6-O-sulfotransferase 1; galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0; GST-0; HSD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1071,964,395 - 72,013,558 (+)EnsemblGRCh38hg38GRCh38
GRCh381071,964,395 - 72,013,562 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371073,724,153 - 73,773,316 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371073,724,120 - 73,773,322 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361073,394,126 - 73,443,318 (+)NCBINCBI36hg18NCBI36
Build 341073,394,125 - 73,443,318NCBI
Celera1067,007,692 - 67,056,893 (+)NCBI
Cytogenetic Map10q22.1NCBI
HuRef1067,718,863 - 67,768,083 (+)NCBIHuRef
CHM1_11074,006,249 - 74,055,464 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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
11 pairs of ribs  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of the abdominal wall  (IAGP)
Abnormally large globe  (IAGP)
Accelerated skeletal maturation  (IAGP)
Amblyopia  (IAGP)
Aortic regurgitation  (IAGP)
Aortic root aneurysm  (IAGP)
Aortic valve stenosis  (IAGP)
Arthralgia  (IAGP)
Arthropathy  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Barrel-shaped chest  (IAGP)
Bicuspid aortic valve  (IAGP)
Bilateral elbow dislocations  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Blue sclerae  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad distal phalanges of all fingers  (IAGP)
Broad forehead  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiomegaly  (IAGP)
Cleft palate  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Coronal cleft vertebrae  (IAGP)
Craniosynostosis  (IAGP)
Cubitus valgus  (IAGP)
Cutis laxa  (IAGP)
Decreased hip abduction  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed gross motor development  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental glaucoma  (IAGP)
Deviation of the 5th finger  (IAGP)
Dislocated radial head  (IAGP)
Disproportionate short-trunk short stature  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elbow dislocation  (IAGP)
Elbow flexion contracture  (IAGP)
Enlarged joints  (IAGP)
Enlarged metaphyses  (IAGP)
Esotropia  (IAGP)
Fixed elbow flexion  (IAGP)
Flared metaphysis  (IAGP)
Flat face  (IAGP)
Flattened epiphysis  (IAGP)
Flexion contracture  (IAGP)
Frontal bossing  (IAGP)
Generalized bone demineralization  (IAGP)
Generalized hypotonia  (IAGP)
Generalized osteoporosis  (IAGP)
Genu valgum  (IAGP)
Hallux valgus  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dislocation  (IAGP)
Hydrocephalus  (IAGP)
Hyperextensible skin  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the capital femoral epiphysis  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intervertebral space narrowing  (IAGP)
Irregular epiphyses  (IAGP)
Irregular vertebral endplates  (IAGP)
Joint hypermobility  (IAGP)
Knee dislocation  (IAGP)
Kyphoscoliosis  (IAGP)
Left ventricular hypertrophy  (IAGP)
Limited hip extension  (IAGP)
Long philtrum  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Lumbar hyperlordosis  (IAGP)
Metacarpophalangeal joint hyperextensibility  (IAGP)
Metatarsus adductus  (IAGP)
Microdontia  (IAGP)
Microretrognathia  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Mitral regurgitation  (IAGP)
Mitral stenosis  (IAGP)
Mitral valve prolapse  (IAGP)
Motor delay  (IAGP)
Multiple carpal ossification centers  (IAGP)
Multiple joint dislocation  (IAGP)
Narrow chest  (IAGP)
Narrow mouth  (IAGP)
Narrow vertebral interpedicular distance  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Patent foramen ovale  (IAGP)
Pectus carinatum  (IAGP)
Pes planus  (IAGP)
Platyspondyly  (IAGP)
Prominent antitragus  (IAGP)
Prominent forehead  (IAGP)
Proptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonic stenosis  (IAGP)
Radioulnar synostosis  (IAGP)
Recurrent fractures  (IAGP)
Rhizomelia  (IAGP)
Sandal gap  (IAGP)
Scoliosis  (IAGP)
Shield chest  (IAGP)
Short distal phalanx of finger  (IAGP)
Short femoral neck  (IAGP)
Short metacarpal  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Shoulder dislocation  (IAGP)
Small epiphyses  (IAGP)
Small face  (IAGP)
Sparse and thin eyebrow  (IAGP)
Sparse eyebrow  (IAGP)
Spatulate thumbs  (IAGP)
Spondyloepiphyseal dysplasia  (IAGP)
Talipes equinovalgus  (IAGP)
Talipes equinovarus  (IAGP)
Thick eyebrow  (IAGP)
Tibial bowing  (IAGP)
Tricuspid regurgitation  (IAGP)
Tricuspid stenosis  (IAGP)
Ulnar bowing  (IAGP)
Ventricular hypertrophy  (IAGP)
Ventricular septal defect  (IAGP)
Waddling gait  (IAGP)
Webbed neck  (IAGP)
Wide intermamillary distance  (IAGP)
Widely spaced teeth  (IAGP)
References

Additional References at PubMed
PMID:1433500   PMID:8419650   PMID:9714738   PMID:9883891   PMID:11056388   PMID:11696535   PMID:12477932   PMID:15489334   PMID:16344560   PMID:16385451   PMID:18398821   PMID:18513679  
PMID:18697746   PMID:19320654   PMID:19322201   PMID:19343046   PMID:20301308   PMID:20301725   PMID:20830804   PMID:21873635   PMID:21882400   PMID:22020285   PMID:22246436   PMID:24216480  
PMID:24300290   PMID:26572954   PMID:27173435   PMID:27753269   PMID:28514442   PMID:29507755   PMID:30118797   PMID:31845005   PMID:32920014  


Genomics

Comparative Map Data
CHST3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1071,964,395 - 72,013,558 (+)EnsemblGRCh38hg38GRCh38
GRCh381071,964,395 - 72,013,562 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371073,724,153 - 73,773,316 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371073,724,120 - 73,773,322 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361073,394,126 - 73,443,318 (+)NCBINCBI36hg18NCBI36
Build 341073,394,125 - 73,443,318NCBI
Celera1067,007,692 - 67,056,893 (+)NCBI
Cytogenetic Map10q22.1NCBI
HuRef1067,718,863 - 67,768,083 (+)NCBIHuRef
CHM1_11074,006,249 - 74,055,464 (+)NCBICHM1_1
Chst3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391060,017,349 - 60,057,936 (-)NCBIGRCm39mm39
GRCm381060,181,527 - 60,222,114 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1060,181,532 - 60,219,260 (-)EnsemblGRCm38mm10GRCm38
MGSCv371059,644,275 - 59,682,008 (-)NCBIGRCm37mm9NCBIm37
MGSCv361059,576,891 - 59,584,064 (-)NCBImm8
Celera1061,277,814 - 61,316,112 (-)NCBICelera
Cytogenetic Map10B4NCBI
Chst3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22028,114,387 - 28,152,046 (-)NCBI
Rnor_6.0 Ensembl2029,731,816 - 29,738,506 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02029,731,828 - 29,768,656 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02031,532,769 - 31,569,063 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42027,480,448 - 27,482,990 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12027,494,247 - 27,496,790 (-)NCBI
Celera2029,558,419 - 29,560,961 (-)NCBICelera
Cytogenetic Map20q11NCBI
Chst3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543719,563,088 - 19,569,889 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543719,563,645 - 19,605,747 (-)NCBIChiLan1.0ChiLan1.0
CHST3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11070,951,211 - 71,000,022 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1070,951,190 - 70,994,936 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01068,427,305 - 68,476,512 (+)NCBIMhudiblu_PPA_v0panPan3
CHST3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl422,691,336 - 22,694,254 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1422,668,430 - 22,699,157 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Chst3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365216,864,456 - 6,900,122 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHST3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1474,850,931 - 74,891,529 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11474,850,931 - 74,891,527 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21480,739,187 - 80,779,620 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CHST3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1959,292,705 - 59,295,821 (-)NCBI
ChlSab1.1 Ensembl959,293,158 - 59,300,866 (-)Ensembl
Chst3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247545,800,240 - 5,832,290 (+)NCBI

Position Markers
D10S218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,756,131 - 73,756,369UniSTSGRCh37
GRCh371073,756,166 - 73,756,286UniSTSGRCh37
Build 361073,426,137 - 73,426,375RGDNCBI36
Celera1067,039,693 - 67,039,935RGD
Celera1067,039,734 - 67,039,852UniSTS
Cytogenetic Map10q22.1UniSTS
HuRef1067,750,918 - 67,751,036UniSTS
HuRef1067,750,877 - 67,751,119UniSTS
Marshfield Genetic Map1093.92RGD
Marshfield Genetic Map1093.92UniSTS
Genethon Genetic Map1096.9UniSTS
TNG Radiation Hybrid Map1033633.0UniSTS
deCODE Assembly Map1093.07UniSTS
Stanford-G3 RH Map103258.0UniSTS
GeneMap99-GB4 RH Map10375.67UniSTS
Whitehead-RH Map10450.0UniSTS
NCBI RH Map10905.6UniSTS
GeneMap99-G3 RH Map103234.0UniSTS
RH65787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,773,041 - 73,773,172UniSTSGRCh37
Build 361073,443,047 - 73,443,178RGDNCBI36
Celera1067,056,612 - 67,056,743RGD
Cytogenetic Map10q22.1UniSTS
HuRef1067,767,802 - 67,767,933UniSTS
GeneMap99-GB4 RH Map10374.78UniSTS
D10S218  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q22.1UniSTS
TNG Radiation Hybrid Map1033633.0UniSTS
Stanford-G3 RH Map103258.0UniSTS
NCBI RH Map10897.1UniSTS
GeneMap99-G3 RH Map103234.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2656
Count of miRNA genes:1117
Interacting mature miRNAs:1393
Transcripts:ENST00000373115
Prediction methods:Miranda, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1850 1793 832 114 84 43 3513 1452 1263 209 1283 1177 84 1148 2315 1
Low 541 456 795 415 743 327 843 739 2468 209 169 414 91 1 56 473 2 2
Below cutoff 25 718 96 95 874 95 1 2 2 1 5 15 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB012192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB017915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI041015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG325090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA223095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB289525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373115   ⟹   ENSP00000362207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1071,964,395 - 72,013,558 (+)Ensembl
RefSeq Acc Id: NM_004273   ⟹   NP_004264
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,964,395 - 72,013,558 (+)NCBI
GRCh371073,724,120 - 73,773,322 (+)ENTREZGENE
Build 361073,394,126 - 73,443,318 (+)NCBI Archive
HuRef1067,718,863 - 67,768,083 (+)ENTREZGENE
CHM1_11074,006,249 - 74,055,464 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718075   ⟹   XP_006718138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,964,909 - 72,013,562 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540369   ⟹   XP_011538671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,968,456 - 72,013,562 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004264   ⟸   NM_004273
- UniProtKB: Q7LGC8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006718138   ⟸   XM_006718075
- Peptide Label: isoform X1
- UniProtKB: Q7LGC8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538671   ⟸   XM_011540369
- Peptide Label: isoform X1
- UniProtKB: Q7LGC8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000362207   ⟸   ENST00000373115

Promoters
RGD ID:7217795
Promoter ID:EPDNEW_H14643
Type:multiple initiation site
Name:CHST3_2
Description:carbohydrate sulfotransferase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14644  EPDNEW_H14645  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,964,033 - 71,964,093EPDNEW
RGD ID:7217797
Promoter ID:EPDNEW_H14644
Type:initiation region
Name:CHST3_1
Description:carbohydrate sulfotransferase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14643  EPDNEW_H14645  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,964,395 - 71,964,455EPDNEW
RGD ID:7217799
Promoter ID:EPDNEW_H14645
Type:multiple initiation site
Name:CHST3_3
Description:carbohydrate sulfotransferase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14643  EPDNEW_H14644  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,970,554 - 71,970,614EPDNEW
RGD ID:6787456
Promoter ID:HG_KWN:9971
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000048563
Position:
Human AssemblyChrPosition (strand)Source
Build 361073,394,121 - 73,394,621 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004273.5(CHST3):c.911G>A (p.Arg304Gln) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000006412] Chr10:72007942 [GRCh38]
Chr10:73767700 [GRCh37]
Chr10:10q22.1
pathogenic|conflicting interpretations of pathogenicity
NM_004273.5(CHST3):c.776T>C (p.Leu259Pro) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000006413] Chr10:72007807 [GRCh38]
Chr10:73767565 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.1114G>A (p.Glu372Lys) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000006414] Chr10:72008145 [GRCh38]
Chr10:73767903 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.664C>T (p.Arg222Trp) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000006415] Chr10:72007695 [GRCh38]
Chr10:73767453 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.920T>C (p.Leu307Pro) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000006416] Chr10:72007951 [GRCh38]
Chr10:73767709 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.1086del (p.Arg363fs) deletion Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000006417] Chr10:72008117 [GRCh38]
Chr10:73767875 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.603C>A (p.Tyr201Ter) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000006418] Chr10:72007634 [GRCh38]
Chr10:73767392 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.857T>C (p.Leu286Pro) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000006419] Chr10:72007888 [GRCh38]
Chr10:73767646 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.422C>T (p.Thr141Met) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000006420] Chr10:72007453 [GRCh38]
Chr10:73767211 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.475T>A (p.Phe159Ile) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000006421] Chr10:72007506 [GRCh38]
Chr10:73767264 [GRCh37]
Chr10:10q22.1
pathogenic|uncertain significance
NM_004273.5(CHST3):c.481C>T (p.Leu161Phe) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000006422] Chr10:72007512 [GRCh38]
Chr10:73767270 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.988C>T (p.Gln330Ter) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000006423] Chr10:72008019 [GRCh38]
Chr10:73767777 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.959C>G (p.Thr320Ser) single nucleotide variant not provided [RCV000640537] Chr10:72007990 [GRCh38]
Chr10:73767748 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.1237G>T (p.Gly413Cys) single nucleotide variant not provided [RCV000728398] Chr10:72008268 [GRCh38]
Chr10:73768026 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2
pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2
pathogenic
NM_004273.4(CHST3):c.166C>T (p.Pro56Ser) single nucleotide variant Malignant melanoma [RCV000069027] Chr10:72007197 [GRCh38]
Chr10:73766955 [GRCh37]
Chr10:73436961 [NCBI36]
Chr10:10q22.1
not provided
NM_004273.5(CHST3):c.1173C>A (p.Ile391=) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000956836]|not specified [RCV000177193] Chr10:72008204 [GRCh38]
Chr10:73767962 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.417C>T (p.Ala139=) single nucleotide variant Larsen syndrome [RCV000327879]|Skeletal dysplasia [RCV000331444]|Spondyloepiphyseal dysplasia congenita [RCV000366162]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000274026]|not specified [RCV000177194] Chr10:72007448 [GRCh38]
Chr10:73767206 [GRCh37]
Chr10:10q22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2
pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3
pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2
pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
NM_004273.5(CHST3):c.518C>T (p.Ser173Phe) single nucleotide variant not provided [RCV000514565] Chr10:72007549 [GRCh38]
Chr10:73767307 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.1063G>A (p.Gly355Arg) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000210956] Chr10:72008094 [GRCh38]
Chr10:73767852 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.311A>G (p.Glu104Gly) single nucleotide variant not provided [RCV000177192] Chr10:72007342 [GRCh38]
Chr10:73767100 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) single nucleotide variant Larsen syndrome [RCV000342801]|Skeletal dysplasia [RCV000378701]|Spondyloepiphyseal dysplasia congenita [RCV000287863]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000284253]|not specified [RCV000408312] Chr10:72008101 [GRCh38]
Chr10:73767859 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*7C>T single nucleotide variant Larsen syndrome [RCV000373254]|Skeletal dysplasia [RCV000282169]|Spondyloepiphyseal dysplasia congenita [RCV000337241]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000278793]|not specified [RCV000393419] Chr10:72008478 [GRCh38]
Chr10:73768236 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_004273.5(CHST3):c.561G>C (p.Val187=) single nucleotide variant Larsen syndrome [RCV000285022]|Skeletal dysplasia [RCV000281507]|Spondyloepiphyseal dysplasia congenita [RCV000397454]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000338929]|not specified [RCV000264582] Chr10:72007592 [GRCh38]
Chr10:73767350 [GRCh37]
Chr10:10q22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) single nucleotide variant Larsen syndrome [RCV000326389]|Skeletal dysplasia [RCV000271319]|Spondyloepiphyseal dysplasia congenita [RCV000365944]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000311323]|not specified [RCV000398456] Chr10:72008378 [GRCh38]
Chr10:73768136 [GRCh37]
Chr10:10q22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004273.5(CHST3):c.904G>C (p.Asp302His) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000550153] Chr10:72007935 [GRCh38]
Chr10:73767693 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.1428C>T (p.Phe476=) single nucleotide variant Larsen syndrome [RCV000376838]|Skeletal dysplasia [RCV000322241]|Spondyloepiphyseal dysplasia congenita [RCV000267045]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000380307] Chr10:72008459 [GRCh38]
Chr10:73768217 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*856C>G single nucleotide variant Larsen syndrome [RCV000305844]|Skeletal dysplasia [RCV000307071]|Spondyloepiphyseal dysplasia congenita [RCV000267046]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000364038] Chr10:72009327 [GRCh38]
Chr10:73769085 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*523A>G single nucleotide variant Larsen syndrome [RCV000283540]|Skeletal dysplasia [RCV000396843]|Spondyloepiphyseal dysplasia congenita [RCV000338628]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000342042] Chr10:72008994 [GRCh38]
Chr10:73768752 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4495G>A single nucleotide variant Larsen syndrome [RCV000406271]|Skeletal dysplasia [RCV000339345]|Spondyloepiphyseal dysplasia congenita [RCV000403979]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000284202] Chr10:72012966 [GRCh38]
Chr10:73772724 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4609G>A single nucleotide variant Larsen syndrome [RCV000345904]|Skeletal dysplasia [RCV000376236]|Spondyloepiphyseal dysplasia congenita [RCV000283944]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000323931] Chr10:72013080 [GRCh38]
Chr10:73772838 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4770G>A single nucleotide variant Larsen syndrome [RCV000301381]|Skeletal dysplasia [RCV000350295]|Spondyloepiphyseal dysplasia congenita [RCV000311816]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000402555] Chr10:72013241 [GRCh38]
Chr10:73772999 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp) single nucleotide variant Larsen syndrome [RCV000358981]|Skeletal dysplasia [RCV000390168]|Spondyloepiphyseal dysplasia congenita [RCV000336768]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000301857] Chr10:72007379 [GRCh38]
Chr10:73767137 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2026A>G single nucleotide variant Larsen syndrome [RCV000339442]|Skeletal dysplasia [RCV000383468]|Spondyloepiphyseal dysplasia congenita [RCV000284374]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000380073] Chr10:72010497 [GRCh38]
Chr10:73770255 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.-294C>G single nucleotide variant Larsen syndrome [RCV000342077]|Skeletal dysplasia [RCV000399138]|Spondyloepiphyseal dysplasia congenita [RCV000307004]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000284764] Chr10:71964508 [GRCh38]
Chr10:73724266 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*2126A>C single nucleotide variant Larsen syndrome [RCV000300879]|Skeletal dysplasia [RCV000285653]|Spondyloepiphyseal dysplasia congenita [RCV000395807]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000335939] Chr10:72010597 [GRCh38]
Chr10:73770355 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*4409C>T single nucleotide variant Larsen syndrome [RCV000302636]|Skeletal dysplasia [RCV000306223]|Spondyloepiphyseal dysplasia congenita [RCV000360925]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000394161] Chr10:72012880 [GRCh38]
Chr10:73772638 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1361C>T single nucleotide variant Larsen syndrome [RCV000302848]|Skeletal dysplasia [RCV000303933]|Spondyloepiphyseal dysplasia congenita [RCV000339038]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000401659] Chr10:72009832 [GRCh38]
Chr10:73769590 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*1664G>C single nucleotide variant Larsen syndrome [RCV000302890]|Skeletal dysplasia [RCV000399197]|Spondyloepiphyseal dysplasia congenita [RCV000366461]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000357652] Chr10:72010135 [GRCh38]
Chr10:73769893 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*406G>A single nucleotide variant Larsen syndrome [RCV000303105]|Skeletal dysplasia [RCV000398733]|Spondyloepiphyseal dysplasia congenita [RCV000400785]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000357788] Chr10:72008877 [GRCh38]
Chr10:73768635 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.244G>A (p.Glu82Lys) single nucleotide variant Larsen syndrome [RCV000379989]|Skeletal dysplasia [RCV000326343]|Spondyloepiphyseal dysplasia congenita [RCV000268996]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000323012] Chr10:72007275 [GRCh38]
Chr10:73767033 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3131G>A single nucleotide variant Larsen syndrome [RCV000371193]|Skeletal dysplasia [RCV000314215]|Spondyloepiphyseal dysplasia congenita [RCV000398008]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000269599] Chr10:72011602 [GRCh38]
Chr10:73771360 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*238G>A single nucleotide variant Larsen syndrome [RCV000390239]|Skeletal dysplasia [RCV000269811]|Spondyloepiphyseal dysplasia congenita [RCV000309616]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000364418] Chr10:72008709 [GRCh38]
Chr10:73768467 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1536G>A single nucleotide variant Larsen syndrome [RCV000379838]|Skeletal dysplasia [RCV000285587]|Spondyloepiphyseal dysplasia congenita [RCV000320549]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000317225] Chr10:72010007 [GRCh38]
Chr10:73769765 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1088A>G single nucleotide variant Larsen syndrome [RCV000286319]|Skeletal dysplasia [RCV000338969]|Spondyloepiphyseal dysplasia congenita [RCV000327083]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000379390] Chr10:72009559 [GRCh38]
Chr10:73769317 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3884A>G single nucleotide variant Larsen syndrome [RCV000403865]|Skeletal dysplasia [RCV000334855]|Spondyloepiphyseal dysplasia congenita [RCV000286195]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000341071] Chr10:72012355 [GRCh38]
Chr10:73772113 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*2826G>A single nucleotide variant Larsen syndrome [RCV000339376]|Skeletal dysplasia [RCV000394342]|Spondyloepiphyseal dysplasia congenita [RCV000304251]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000361262] Chr10:72011297 [GRCh38]
Chr10:73771055 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*1101T>G single nucleotide variant Larsen syndrome [RCV000270680]|Skeletal dysplasia [RCV000283525]|Spondyloepiphyseal dysplasia congenita [RCV000323430]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000380251] Chr10:72009572 [GRCh38]
Chr10:73769330 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*1399T>C single nucleotide variant Larsen syndrome [RCV000270875]|Skeletal dysplasia [RCV000274227]|Spondyloepiphyseal dysplasia congenita [RCV000388579]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000334010] Chr10:72009870 [GRCh38]
Chr10:73769628 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.394C>G (p.Arg132Gly) single nucleotide variant Larsen syndrome [RCV000391141]|Skeletal dysplasia [RCV000270679]|Spondyloepiphyseal dysplasia congenita [RCV000362849]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000305939] Chr10:72007425 [GRCh38]
Chr10:73767183 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*483G>A single nucleotide variant Larsen syndrome [RCV000326461]|Skeletal dysplasia [RCV000286651]|Spondyloepiphyseal dysplasia congenita [RCV000290149]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000380972] Chr10:72008954 [GRCh38]
Chr10:73768712 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*1425C>T single nucleotide variant Larsen syndrome [RCV000376836]|Skeletal dysplasia [RCV000342116]|Spondyloepiphyseal dysplasia congenita [RCV000286973]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000397054] Chr10:72009896 [GRCh38]
Chr10:73769654 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*809C>T single nucleotide variant Larsen syndrome [RCV000326007]|Skeletal dysplasia [RCV000365445]|Spondyloepiphyseal dysplasia congenita [RCV000270927]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000380640] Chr10:72009280 [GRCh38]
Chr10:73769038 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3039C>T single nucleotide variant Larsen syndrome [RCV000328739]|Skeletal dysplasia [RCV000376357]|Spondyloepiphyseal dysplasia congenita [RCV000271392]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000382573] Chr10:72011510 [GRCh38]
Chr10:73771268 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*4421G>C single nucleotide variant Larsen syndrome [RCV000271907]|Skeletal dysplasia [RCV000327039]|Spondyloepiphyseal dysplasia congenita [RCV000363073]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000366549] Chr10:72012892 [GRCh38]
Chr10:73772650 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*2718G>A single nucleotide variant Larsen syndrome [RCV000344754]|Skeletal dysplasia [RCV000287484]|Spondyloepiphyseal dysplasia congenita [RCV000291076]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000405434] Chr10:72011189 [GRCh38]
Chr10:73770947 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*3701_*3702AG[1] microsatellite Larsen syndrome [RCV000272396]|Skeletal dysplasia [RCV000302743]|Spondyloepiphyseal dysplasia congenita [RCV000357570]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000327400] Chr10:72012172..72012173 [GRCh38]
Chr10:73771930..73771931 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*4210T>C single nucleotide variant Larsen syndrome [RCV000272458]|Skeletal dysplasia [RCV000287614]|Spondyloepiphyseal dysplasia congenita [RCV000382029]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000327500] Chr10:72012681 [GRCh38]
Chr10:73772439 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) single nucleotide variant Larsen syndrome [RCV000382557]|Skeletal dysplasia [RCV000272819]|Spondyloepiphyseal dysplasia congenita [RCV000385924]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000327919] Chr10:72008034 [GRCh38]
Chr10:73767792 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*346C>T single nucleotide variant Larsen syndrome [RCV000347683]|Skeletal dysplasia [RCV000344330]|Spondyloepiphyseal dysplasia congenita [RCV000289384]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000397678] Chr10:72008817 [GRCh38]
Chr10:73768575 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.570C>T (p.Asp190=) single nucleotide variant Larsen syndrome [RCV000342449]|Skeletal dysplasia [RCV000400260]|Spondyloepiphyseal dysplasia congenita [RCV000307475]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000364556] Chr10:72007601 [GRCh38]
Chr10:73767359 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004273.5(CHST3):c.*4533C>T single nucleotide variant Larsen syndrome [RCV000273915]|Skeletal dysplasia [RCV000331224]|Spondyloepiphyseal dysplasia congenita [RCV000355694]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000370815] Chr10:72013004 [GRCh38]
Chr10:73772762 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*4049C>A single nucleotide variant Larsen syndrome [RCV000384579]|Skeletal dysplasia [RCV000339417]|Spondyloepiphyseal dysplasia congenita [RCV000290293]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000345275] Chr10:72012520 [GRCh38]
Chr10:73772278 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*981A>T single nucleotide variant Larsen syndrome [RCV000348810]|Skeletal dysplasia [RCV000347579]|Spondyloepiphyseal dysplasia congenita [RCV000386974]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000290236] Chr10:72009452 [GRCh38]
Chr10:73769210 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1006T>C single nucleotide variant Larsen syndrome [RCV000399549]|Skeletal dysplasia [RCV000397764]|Spondyloepiphyseal dysplasia congenita [RCV000307743]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000341671] Chr10:72009477 [GRCh38]
Chr10:73769235 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*1185C>G single nucleotide variant Larsen syndrome [RCV000390501]|Skeletal dysplasia [RCV000307906]|Spondyloepiphyseal dysplasia congenita [RCV000309094]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000347634] Chr10:72009656 [GRCh38]
Chr10:73769414 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4498A>G single nucleotide variant Larsen syndrome [RCV000309011]|Skeletal dysplasia [RCV000397833]|Spondyloepiphyseal dysplasia congenita [RCV000313855]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000363736] Chr10:72012969 [GRCh38]
Chr10:73772727 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*763C>A single nucleotide variant Larsen syndrome [RCV000368921]|Skeletal dysplasia [RCV000274342]|Spondyloepiphyseal dysplasia congenita [RCV000314214]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000310686] Chr10:72009234 [GRCh38]
Chr10:73768992 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*469C>A single nucleotide variant Larsen syndrome [RCV000369101]|Skeletal dysplasia [RCV000384562]|Spondyloepiphyseal dysplasia congenita [RCV000330074]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000275034] Chr10:72008940 [GRCh38]
Chr10:73768698 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) single nucleotide variant Larsen syndrome [RCV000401187]|Skeletal dysplasia [RCV000314473]|Spondyloepiphyseal dysplasia congenita [RCV000274955]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000369182] Chr10:72008282 [GRCh38]
Chr10:73768040 [GRCh37]
Chr10:10q22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004273.5(CHST3):c.276C>A (p.Ser92Arg) single nucleotide variant Larsen syndrome [RCV000291531]|Skeletal dysplasia [RCV000386934]|Spondyloepiphyseal dysplasia congenita [RCV000383546]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000330058] Chr10:72007307 [GRCh38]
Chr10:73767065 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1888T>C single nucleotide variant Larsen syndrome [RCV000291634]|Skeletal dysplasia [RCV000346599]|Spondyloepiphyseal dysplasia congenita [RCV000302226]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000394400] Chr10:72010359 [GRCh38]
Chr10:73770117 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*3445G>A single nucleotide variant Larsen syndrome [RCV000395464]|Skeletal dysplasia [RCV000395460]|Spondyloepiphyseal dysplasia congenita [RCV000357611]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000309797] Chr10:72011916 [GRCh38]
Chr10:73771674 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2422T>C single nucleotide variant Larsen syndrome [RCV000344745]|Skeletal dysplasia [RCV000309612]|Spondyloepiphyseal dysplasia congenita [RCV000395653]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000366701] Chr10:72010893 [GRCh38]
Chr10:73770651 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*1698C>G single nucleotide variant Larsen syndrome [RCV000322707]|Skeletal dysplasia [RCV000267573]|Spondyloepiphyseal dysplasia congenita [RCV000259294]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000354075] Chr10:72010169 [GRCh38]
Chr10:73769927 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3477G>A single nucleotide variant Larsen syndrome [RCV000259512]|Skeletal dysplasia [RCV000361298]|Spondyloepiphyseal dysplasia congenita [RCV000304292]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000317109] Chr10:72011948 [GRCh38]
Chr10:73771706 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*3987G>A single nucleotide variant Larsen syndrome [RCV000324205]|Skeletal dysplasia [RCV000259585]|Spondyloepiphyseal dysplasia congenita [RCV000378638]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000284264] Chr10:72012458 [GRCh38]
Chr10:73772216 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*4432T>A single nucleotide variant Larsen syndrome [RCV000281562]|Skeletal dysplasia [RCV000275845]|Spondyloepiphyseal dysplasia congenita [RCV000385513]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000330976] Chr10:72012903 [GRCh38]
Chr10:73772661 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*1314G>A single nucleotide variant Larsen syndrome [RCV000397938]|Skeletal dysplasia [RCV000383875]|Spondyloepiphyseal dysplasia congenita [RCV000344547]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000291904] Chr10:72009785 [GRCh38]
Chr10:73769543 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*1278C>T single nucleotide variant Larsen syndrome [RCV000389635]|Skeletal dysplasia [RCV000350226]|Spondyloepiphyseal dysplasia congenita [RCV000292986]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000332720] Chr10:72009749 [GRCh38]
Chr10:73769507 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.-274G>T single nucleotide variant Larsen syndrome [RCV000345401]|Skeletal dysplasia [RCV000310437]|Spondyloepiphyseal dysplasia congenita [RCV000393516]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000367415] Chr10:71964528 [GRCh38]
Chr10:73724286 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*3890C>T single nucleotide variant Larsen syndrome [RCV000405775]|Skeletal dysplasia [RCV000310709]|Spondyloepiphyseal dysplasia congenita [RCV000346802]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000397805] Chr10:72012361 [GRCh38]
Chr10:73772119 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*4107T>C single nucleotide variant Larsen syndrome [RCV000260792]|Skeletal dysplasia [RCV000297233]|Spondyloepiphyseal dysplasia congenita [RCV000300758]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000355629] Chr10:72012578 [GRCh38]
Chr10:73772336 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.886G>C (p.Val296Leu) single nucleotide variant Larsen syndrome [RCV000316427]|Skeletal dysplasia [RCV000331566]|Spondyloepiphyseal dysplasia congenita [RCV000276549]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000371092] Chr10:72007917 [GRCh38]
Chr10:73767675 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2391C>T single nucleotide variant Larsen syndrome [RCV000296566]|Skeletal dysplasia [RCV000350467]|Spondyloepiphyseal dysplasia congenita [RCV000390597]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000293174] Chr10:72010862 [GRCh38]
Chr10:73770620 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*290G>C single nucleotide variant Larsen syndrome [RCV000387280]|Skeletal dysplasia [RCV000293005]|Spondyloepiphyseal dysplasia congenita [RCV000296418]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000332663] Chr10:72008761 [GRCh38]
Chr10:73768519 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4865C>T single nucleotide variant Larsen syndrome [RCV000336645]|Skeletal dysplasia [RCV000404109]|Spondyloepiphyseal dysplasia congenita [RCV000385423]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000293386] Chr10:72013336 [GRCh38]
Chr10:73773094 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2660C>T single nucleotide variant Larsen syndrome [RCV000385531]|Skeletal dysplasia [RCV000293576]|Spondyloepiphyseal dysplasia congenita [RCV000332075]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000388986] Chr10:72011131 [GRCh38]
Chr10:73770889 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2163A>G single nucleotide variant Larsen syndrome [RCV000337280]|Skeletal dysplasia [RCV000370895]|Spondyloepiphyseal dysplasia congenita [RCV000311615]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000395801] Chr10:72010634 [GRCh38]
Chr10:73770392 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.828C>T (p.Arg276=) single nucleotide variant Larsen syndrome [RCV000261306]|Skeletal dysplasia [RCV000356106]|Spondyloepiphyseal dysplasia congenita [RCV000393600]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000301330] Chr10:72007859 [GRCh38]
Chr10:73767617 [GRCh37]
Chr10:10q22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004273.5(CHST3):c.7A>C (p.Lys3Gln) single nucleotide variant Larsen syndrome [RCV000357082]|Skeletal dysplasia [RCV000299800]|Spondyloepiphyseal dysplasia congenita [RCV000261024]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000264662] Chr10:72005849 [GRCh38]
Chr10:73765607 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4785G>A single nucleotide variant Larsen syndrome [RCV000261067]|Skeletal dysplasia [RCV000304537]|Spondyloepiphyseal dysplasia congenita [RCV000361562]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000353937] Chr10:72013256 [GRCh38]
Chr10:73773014 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*3022A>T single nucleotide variant Larsen syndrome [RCV000369700]|Skeletal dysplasia [RCV000325612]|Spondyloepiphyseal dysplasia congenita [RCV000312687]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000277529] Chr10:72011493 [GRCh38]
Chr10:73771251 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4450G>C single nucleotide variant Larsen syndrome [RCV000372787]|Skeletal dysplasia [RCV000318192]|Spondyloepiphyseal dysplasia congenita [RCV000342589]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000278174] Chr10:72012921 [GRCh38]
Chr10:73772679 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3053C>T single nucleotide variant Larsen syndrome [RCV000278263]|Skeletal dysplasia [RCV000284122]|Spondyloepiphyseal dysplasia congenita [RCV000341502]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000379666] Chr10:72011524 [GRCh38]
Chr10:73771282 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*3785G>A single nucleotide variant Larsen syndrome [RCV000387337]|Skeletal dysplasia [RCV000277899]|Spondyloepiphyseal dysplasia congenita [RCV000363106]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000332798] Chr10:72012256 [GRCh38]
Chr10:73772014 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*2349A>G single nucleotide variant Larsen syndrome [RCV000373809]|Skeletal dysplasia [RCV000316899]|Spondyloepiphyseal dysplasia congenita [RCV000278037]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000379603] Chr10:72010820 [GRCh38]
Chr10:73770578 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*4336A>G single nucleotide variant Larsen syndrome [RCV000388613]|Skeletal dysplasia [RCV000352644]|Spondyloepiphyseal dysplasia congenita [RCV000294278]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000349211] Chr10:72012807 [GRCh38]
Chr10:73772565 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1823G>C single nucleotide variant Larsen syndrome [RCV000330718]|Skeletal dysplasia [RCV000320125]|Spondyloepiphyseal dysplasia congenita [RCV000294380]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000374735] Chr10:72010294 [GRCh38]
Chr10:73770052 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*3565A>G single nucleotide variant Larsen syndrome [RCV000294944]|Skeletal dysplasia [RCV000381339]|Spondyloepiphyseal dysplasia congenita [RCV000295062]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000333742] Chr10:72012036 [GRCh38]
Chr10:73771794 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*203A>G single nucleotide variant Larsen syndrome [RCV000312993]|Skeletal dysplasia [RCV000352703]|Spondyloepiphyseal dysplasia congenita [RCV000399744]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000349168] Chr10:72008674 [GRCh38]
Chr10:73768432 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*855A>C single nucleotide variant Larsen syndrome [RCV000390324]|Skeletal dysplasia [RCV000346707]|Spondyloepiphyseal dysplasia congenita [RCV000312843]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000395294] Chr10:72009326 [GRCh38]
Chr10:73769084 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1447C>A single nucleotide variant Larsen syndrome [RCV000313233]|Skeletal dysplasia [RCV000366854]|Spondyloepiphyseal dysplasia congenita [RCV000400871]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000363292] Chr10:72009918 [GRCh38]
Chr10:73769676 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*4095A>G single nucleotide variant Larsen syndrome [RCV000313744]|Skeletal dysplasia [RCV000349883]|Spondyloepiphyseal dysplasia congenita [RCV000395543]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000390824] Chr10:72012566 [GRCh38]
Chr10:73772324 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*274C>T single nucleotide variant Larsen syndrome [RCV000372358]|Skeletal dysplasia [RCV000317651]|Spondyloepiphyseal dysplasia congenita [RCV000262596]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000357402] Chr10:72008745 [GRCh38]
Chr10:73768503 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3932G>T single nucleotide variant Larsen syndrome [RCV000366735]|Skeletal dysplasia [RCV000262991]|Spondyloepiphyseal dysplasia congenita [RCV000318114]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000372726] Chr10:72012403 [GRCh38]
Chr10:73772161 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*1426T>C single nucleotide variant Larsen syndrome [RCV000278345]|Skeletal dysplasia [RCV000338125]|Spondyloepiphyseal dysplasia congenita [RCV000397065]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000312252] Chr10:72009897 [GRCh38]
Chr10:73769655 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*1130C>G single nucleotide variant Larsen syndrome [RCV000335862]|Skeletal dysplasia [RCV000375155]|Spondyloepiphyseal dysplasia congenita [RCV000318256]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000278403] Chr10:72009601 [GRCh38]
Chr10:73769359 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.306C>T (p.Gly102=) single nucleotide variant Larsen syndrome [RCV000351750]|Skeletal dysplasia [RCV000279348]|Spondyloepiphyseal dysplasia congenita [RCV000294538]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000398453] Chr10:72007337 [GRCh38]
Chr10:73767095 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1844C>T single nucleotide variant Larsen syndrome [RCV000345796]|Skeletal dysplasia [RCV000295614]|Spondyloepiphyseal dysplasia congenita [RCV000389670]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000381696] Chr10:72010315 [GRCh38]
Chr10:73770073 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*1184C>G single nucleotide variant Larsen syndrome [RCV000295746]|Skeletal dysplasia [RCV000348288]|Spondyloepiphyseal dysplasia congenita [RCV000395531]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000395534] Chr10:72009655 [GRCh38]
Chr10:73769413 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4534G>A single nucleotide variant Larsen syndrome [RCV000372972]|Skeletal dysplasia [RCV000263106]|Spondyloepiphyseal dysplasia congenita [RCV000285519]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000315892] Chr10:72013005 [GRCh38]
Chr10:73772763 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3555G>A single nucleotide variant Larsen syndrome [RCV000263214]|Skeletal dysplasia [RCV000386961]|Spondyloepiphyseal dysplasia congenita [RCV000330147]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000355701] Chr10:72012026 [GRCh38]
Chr10:73771784 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.-265C>G single nucleotide variant Larsen syndrome [RCV000263786]|Skeletal dysplasia [RCV000317897]|Spondyloepiphyseal dysplasia congenita [RCV000321314]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000374804] Chr10:71964537 [GRCh38]
Chr10:73724295 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1370G>A single nucleotide variant Larsen syndrome [RCV000369039]|Skeletal dysplasia [RCV000354014]|Spondyloepiphyseal dysplasia congenita [RCV000263787]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000300323] Chr10:72009841 [GRCh38]
Chr10:73769599 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*3306A>G single nucleotide variant Larsen syndrome [RCV000280198]|Skeletal dysplasia [RCV000293058]|Spondyloepiphyseal dysplasia congenita [RCV000337570]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000375776] Chr10:72011777 [GRCh38]
Chr10:73771535 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3857G>A single nucleotide variant Larsen syndrome [RCV000374838]|Skeletal dysplasia [RCV000293202]|Spondyloepiphyseal dysplasia congenita [RCV000320072]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000280333] Chr10:72012328 [GRCh38]
Chr10:73772086 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.543C>T (p.Ala181=) single nucleotide variant Larsen syndrome [RCV000296621]|Skeletal dysplasia [RCV000388673]|Spondyloepiphyseal dysplasia congenita [RCV000316546]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000373459] Chr10:72007574 [GRCh38]
Chr10:73767332 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1621C>G single nucleotide variant Larsen syndrome [RCV000307102]|Skeletal dysplasia [RCV000296431]|Spondyloepiphyseal dysplasia congenita [RCV000351318]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000396296] Chr10:72010092 [GRCh38]
Chr10:73769850 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3666G>A single nucleotide variant Larsen syndrome [RCV000361216]|Skeletal dysplasia [RCV000394205]|Spondyloepiphyseal dysplasia congenita [RCV000297009]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000394256] Chr10:72012137 [GRCh38]
Chr10:73771895 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*4869G>A single nucleotide variant Larsen syndrome [RCV000297063]|Skeletal dysplasia [RCV000403876]|Spondyloepiphyseal dysplasia congenita [RCV000305301]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000335706] Chr10:72013340 [GRCh38]
Chr10:73773098 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1009C>T single nucleotide variant Larsen syndrome [RCV000355927]|Skeletal dysplasia [RCV000402223]|Spondyloepiphyseal dysplasia congenita [RCV000303443]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000297431] Chr10:72009480 [GRCh38]
Chr10:73769238 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.-51G>A single nucleotide variant Larsen syndrome [RCV000400977]|Skeletal dysplasia [RCV000350278]|Spondyloepiphyseal dysplasia congenita [RCV000353671]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000315158] Chr10:72005792 [GRCh38]
Chr10:73765550 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4341C>A single nucleotide variant Larsen syndrome [RCV000406127]|Skeletal dysplasia [RCV000281430]|Spondyloepiphyseal dysplasia congenita [RCV000402515]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000336565] Chr10:72012812 [GRCh38]
Chr10:73772570 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*887A>G single nucleotide variant Larsen syndrome [RCV000375236]|Skeletal dysplasia [RCV000265466]|Spondyloepiphyseal dysplasia congenita [RCV000357882]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000318329] Chr10:72009358 [GRCh38]
Chr10:73769116 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1463G>T single nucleotide variant Larsen syndrome [RCV000364980]|Skeletal dysplasia [RCV000269155]|Spondyloepiphyseal dysplasia congenita [RCV000328838]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000265697] Chr10:72009934 [GRCh38]
Chr10:73769692 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1088A>T single nucleotide variant Larsen syndrome [RCV000338818]|Skeletal dysplasia [RCV000397014]|Spondyloepiphyseal dysplasia congenita [RCV000281547]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000397003] Chr10:72009559 [GRCh38]
Chr10:73769317 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3571T>C single nucleotide variant Larsen syndrome [RCV000349843]|Skeletal dysplasia [RCV000281867]|Spondyloepiphyseal dysplasia congenita [RCV000404336]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000336958] Chr10:72012042 [GRCh38]
Chr10:73771800 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1899G>A single nucleotide variant Larsen syndrome [RCV000298826]|Skeletal dysplasia [RCV000353753]|Spondyloepiphyseal dysplasia congenita [RCV000343193]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000394436] Chr10:72010370 [GRCh38]
Chr10:73770128 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*1090G>A single nucleotide variant Larsen syndrome [RCV000369957]|Skeletal dysplasia [RCV000298967]|Spondyloepiphyseal dysplasia congenita [RCV000399162]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000311877] Chr10:72009561 [GRCh38]
Chr10:73769319 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) single nucleotide variant Larsen syndrome [RCV000299777]|Skeletal dysplasia [RCV000401498]|Spondyloepiphyseal dysplasia congenita [RCV000339457]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000335960] Chr10:72008228 [GRCh38]
Chr10:73767986 [GRCh37]
Chr10:10q22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004273.5(CHST3):c.*4162A>G single nucleotide variant Larsen syndrome [RCV000266500]|Skeletal dysplasia [RCV000361117]|Spondyloepiphyseal dysplasia congenita [RCV000321642]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000376331] Chr10:72012633 [GRCh38]
Chr10:73772391 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*255C>T single nucleotide variant Larsen syndrome [RCV000266232]|Skeletal dysplasia [RCV000359859]|Spondyloepiphyseal dysplasia congenita [RCV000321264]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000305074] Chr10:72008726 [GRCh38]
Chr10:73768484 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*3245G>A single nucleotide variant Larsen syndrome [RCV000324435]|Skeletal dysplasia [RCV000372109]|Spondyloepiphyseal dysplasia congenita [RCV000266948]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000377835] Chr10:72011716 [GRCh38]
Chr10:73771474 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3090T>A single nucleotide variant Larsen syndrome [RCV000403597]|Skeletal dysplasia [RCV000348363]|Spondyloepiphyseal dysplasia congenita [RCV000335472]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000300466] Chr10:72011561 [GRCh38]
Chr10:73771319 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*1584T>G single nucleotide variant Larsen syndrome [RCV000375559]|Skeletal dysplasia [RCV000349982]|Spondyloepiphyseal dysplasia congenita [RCV000405841]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000281084] Chr10:72010055 [GRCh38]
Chr10:73769813 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.202G>A (p.Ala68Thr) single nucleotide variant not provided [RCV000338972] Chr10:72007233 [GRCh38]
Chr10:73766991 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*922C>T single nucleotide variant Larsen syndrome [RCV000388112]|Skeletal dysplasia [RCV000295659]|Spondyloepiphyseal dysplasia congenita [RCV000317256]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000259661] Chr10:72009393 [GRCh38]
Chr10:73769151 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*410C>T single nucleotide variant Larsen syndrome [RCV000299682]|Skeletal dysplasia [RCV000354504]|Spondyloepiphyseal dysplasia congenita [RCV000333672]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000259736] Chr10:72008881 [GRCh38]
Chr10:73768639 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.-270del deletion Larsen syndrome [RCV000371319]|Skeletal dysplasia [RCV000314315]|Spondyloepiphyseal dysplasia congenita [RCV000275551]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000260109] Chr10:71964530 [GRCh38]
Chr10:73724288 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*2178G>T single nucleotide variant Larsen syndrome [RCV000276442]|Skeletal dysplasia [RCV000362904]|Spondyloepiphyseal dysplasia congenita [RCV000308187]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000271320] Chr10:72010649 [GRCh38]
Chr10:73770407 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1091G>T single nucleotide variant Larsen syndrome [RCV000329048]|Skeletal dysplasia [RCV000362698]|Spondyloepiphyseal dysplasia congenita [RCV000271692]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000368661] Chr10:72009562 [GRCh38]
Chr10:73769320 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1256G>A single nucleotide variant Larsen syndrome [RCV000262289]|Skeletal dysplasia [RCV000319737]|Spondyloepiphyseal dysplasia congenita [RCV000261025]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000372030] Chr10:72009727 [GRCh38]
Chr10:73769485 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1960G>A single nucleotide variant Larsen syndrome [RCV000277080]|Skeletal dysplasia [RCV000366963]|Spondyloepiphyseal dysplasia congenita [RCV000312295]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000261833] Chr10:72010431 [GRCh38]
Chr10:73770189 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3167G>A single nucleotide variant Larsen syndrome [RCV000365521]|Skeletal dysplasia [RCV000308510]|Spondyloepiphyseal dysplasia congenita [RCV000321323]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000273321] Chr10:72011638 [GRCh38]
Chr10:73771396 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2656A>G single nucleotide variant Larsen syndrome [RCV000319960]|Skeletal dysplasia [RCV000316362]|Spondyloepiphyseal dysplasia congenita [RCV000262524]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000354811] Chr10:72011127 [GRCh38]
Chr10:73770885 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2843_*2844del deletion Larsen syndrome [RCV000355660]|Skeletal dysplasia [RCV000394345]|Spondyloepiphyseal dysplasia congenita [RCV000263280]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000298593] Chr10:72011314..72011315 [GRCh38]
Chr10:73771072..73771073 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1053A>T single nucleotide variant Larsen syndrome [RCV000288425]|Skeletal dysplasia [RCV000385090]|Spondyloepiphyseal dysplasia congenita [RCV000275439]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000328124] Chr10:72009524 [GRCh38]
Chr10:73769282 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3905C>T single nucleotide variant Larsen syndrome [RCV000312340]|Skeletal dysplasia [RCV000370401]|Spondyloepiphyseal dysplasia congenita [RCV000306441]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000275932] Chr10:72012376 [GRCh38]
Chr10:73772134 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4820C>T single nucleotide variant Larsen syndrome [RCV000322572]|Skeletal dysplasia [RCV000384029]|Spondyloepiphyseal dysplasia congenita [RCV000265056]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000273289] Chr10:72013291 [GRCh38]
Chr10:73773049 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*812G>A single nucleotide variant Larsen syndrome [RCV000282654]|Skeletal dysplasia [RCV000322503]|Spondyloepiphyseal dysplasia congenita [RCV000265095]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000374762] Chr10:72009283 [GRCh38]
Chr10:73769041 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2226A>G single nucleotide variant Larsen syndrome [RCV000328648]|Skeletal dysplasia [RCV000322766]|Spondyloepiphyseal dysplasia congenita [RCV000265306]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000376275] Chr10:72010697 [GRCh38]
Chr10:73770455 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1042C>G single nucleotide variant Larsen syndrome [RCV000354905]|Skeletal dysplasia [RCV000367528]|Spondyloepiphyseal dysplasia congenita [RCV000276550]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000333877] Chr10:72009513 [GRCh38]
Chr10:73769271 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.7A>G (p.Lys3Glu) single nucleotide variant not provided [RCV000395052] Chr10:72005849 [GRCh38]
Chr10:73765607 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4884C>G single nucleotide variant Larsen syndrome [RCV000308948]|Skeletal dysplasia [RCV000265498]|Spondyloepiphyseal dysplasia congenita [RCV000357852]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000366013] Chr10:72013355 [GRCh38]
Chr10:73773113 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.1160G>A (p.Arg387His) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000960567]|not specified [RCV000296030] Chr10:72008191 [GRCh38]
Chr10:73767949 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*66G>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001104792]|not provided [RCV000331968] Chr10:72008537 [GRCh38]
Chr10:73768295 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1244G>T single nucleotide variant Larsen syndrome [RCV000359087]|Skeletal dysplasia [RCV000301909]|Spondyloepiphyseal dysplasia congenita [RCV000360119]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000267825] Chr10:72009715 [GRCh38]
Chr10:73769473 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2592C>T single nucleotide variant Larsen syndrome [RCV000360495]|Skeletal dysplasia [RCV000268194]|Spondyloepiphyseal dysplasia congenita [RCV000395650]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000303334] Chr10:72011063 [GRCh38]
Chr10:73770821 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.1191G>A (p.Val397=) single nucleotide variant not provided [RCV000269008] Chr10:72008222 [GRCh38]
Chr10:73767980 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1978_*1979GT[4] microsatellite Larsen syndrome [RCV000268788]|Skeletal dysplasia [RCV000328493]|Spondyloepiphyseal dysplasia congenita [RCV000381955]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000332005] Chr10:72010448..72010449 [GRCh38]
Chr10:73770206..73770207 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*3384G>A single nucleotide variant Larsen syndrome [RCV000350780]|Skeletal dysplasia [RCV000306489]|Spondyloepiphyseal dysplasia congenita [RCV000402600]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000345000] Chr10:72011855 [GRCh38]
Chr10:73771613 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4821G>A single nucleotide variant Larsen syndrome [RCV000382720]|Skeletal dysplasia [RCV000352682]|Spondyloepiphyseal dysplasia congenita [RCV000295439]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000325838] Chr10:72013292 [GRCh38]
Chr10:73773050 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*851T>C single nucleotide variant Larsen syndrome [RCV000373579]|Skeletal dysplasia [RCV000335240]|Spondyloepiphyseal dysplasia congenita [RCV000295517]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000352662] Chr10:72009322 [GRCh38]
Chr10:73769080 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.-131G>A single nucleotide variant Larsen syndrome [RCV000342529]|Skeletal dysplasia [RCV000285109]|Spondyloepiphyseal dysplasia congenita [RCV000377292]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000380771] Chr10:71964671 [GRCh38]
Chr10:73724429 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4628A>C single nucleotide variant Larsen syndrome [RCV000384401]|Skeletal dysplasia [RCV000344900]|Spondyloepiphyseal dysplasia congenita [RCV000401900]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000287698] Chr10:72013099 [GRCh38]
Chr10:73772857 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*544C>T single nucleotide variant Larsen syndrome [RCV000298851]|Skeletal dysplasia [RCV000353651]|Spondyloepiphyseal dysplasia congenita [RCV000400461]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000390470] Chr10:72009015 [GRCh38]
Chr10:73768773 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.-108+6T>G single nucleotide variant Larsen syndrome [RCV000311804]|Skeletal dysplasia [RCV000402046]|Spondyloepiphyseal dysplasia congenita [RCV000288758]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000346084] Chr10:71964700 [GRCh38]
Chr10:73724458 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1404C>G single nucleotide variant Larsen syndrome [RCV000340695]|Skeletal dysplasia [RCV000290376]|Spondyloepiphyseal dysplasia congenita [RCV000325618]|Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000384810] Chr10:72009875 [GRCh38]
Chr10:73769633 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.1312C>T (p.Gln438Ter) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000626195] Chr10:72008343 [GRCh38]
Chr10:73768101 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.1187A>G (p.Gln396Arg) single nucleotide variant not provided [RCV000732952] Chr10:72008218 [GRCh38]
Chr10:73767976 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10q22.1(chr10:73592341-73810742)x3 copy number gain See cases [RCV000446453] Chr10:73592341..73810742 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.1052C>T (p.Ser351Phe) single nucleotide variant not provided [RCV000437278] Chr10:72008083 [GRCh38]
Chr10:73767841 [GRCh37]
Chr10:10q22.1
likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_004273.5(CHST3):c.533dup (p.Ala179fs) duplication Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000576230]|not provided [RCV000498884] Chr10:72007558..72007559 [GRCh38]
Chr10:73767316..73767317 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss PARP Inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_004273.5(CHST3):c.491C>T (p.Pro164Leu) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000528005] Chr10:72007522 [GRCh38]
Chr10:73767280 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.1363C>G (p.Leu455Val) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000625365] Chr10:72008394 [GRCh38]
Chr10:73768152 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.680C>G (p.Ser227Cys) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000626117] Chr10:72007711 [GRCh38]
Chr10:73767469 [GRCh37]
Chr10:10q22.1
likely pathogenic|uncertain significance
NM_004273.5(CHST3):c.1031A>G (p.Asn344Ser) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000640536] Chr10:72008062 [GRCh38]
Chr10:73767820 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.167C>A (p.Pro56His) single nucleotide variant not provided [RCV000658124] Chr10:72007198 [GRCh38]
Chr10:73766956 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_004273.5(CHST3):c.306C>A (p.Gly102=) single nucleotide variant not provided [RCV000924417] Chr10:72007337 [GRCh38]
Chr10:73767095 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.510_511CA[1] (p.Thr171fs) microsatellite Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000779033] Chr10:72007541..72007542 [GRCh38]
Chr10:73767299..73767300 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.1254_1256GAA[1] (p.Lys419del) microsatellite Larsen syndrome [RCV000856732] Chr10:72008284..72008286 [GRCh38]
Chr10:73768042..73768044 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.1052C>A (p.Ser351Tyr) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000984511] Chr10:72008083 [GRCh38]
Chr10:73767841 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.449A>C (p.Glu150Ala) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001213876] Chr10:72007480 [GRCh38]
Chr10:73767238 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.853C>T (p.Pro285Ser) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001242183] Chr10:72007884 [GRCh38]
Chr10:73767642 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.269T>C (p.Leu90Pro) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001238787] Chr10:72007300 [GRCh38]
Chr10:73767058 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.-164C>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001104678] Chr10:71964638 [GRCh38]
Chr10:73724396 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1385T>C single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001108258] Chr10:72009856 [GRCh38]
Chr10:73769614 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4633G>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001105272] Chr10:72013104 [GRCh38]
Chr10:73772862 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4359A>G single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001108530] Chr10:72012830 [GRCh38]
Chr10:73772588 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.195C>T (p.Thr65=) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001105845] Chr10:72007226 [GRCh38]
Chr10:73766984 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*710G>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001105935] Chr10:72009181 [GRCh38]
Chr10:73768939 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1608C>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001103065] Chr10:72010079 [GRCh38]
Chr10:73769837 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1212C>G single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001106041] Chr10:72009683 [GRCh38]
Chr10:73769441 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3811C>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001103265] Chr10:72012282 [GRCh38]
Chr10:73772040 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.423G>A (p.Thr141=) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001105846]|not provided [RCV000918925] Chr10:72007454 [GRCh38]
Chr10:73767212 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_004273.5(CHST3):c.1135C>T (p.Leu379=) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000887580] Chr10:72008166 [GRCh38]
Chr10:73767924 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity
NM_004273.5(CHST3):c.*4156A>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001106308] Chr10:72012627 [GRCh38]
Chr10:73772385 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.313C>G (p.Pro105Ala) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001244858] Chr10:72007344 [GRCh38]
Chr10:73767102 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.793C>G (p.Arg265Gly) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001244859] Chr10:72007824 [GRCh38]
Chr10:73767582 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.540C>T (p.Asn180=) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001108082] Chr10:72007571 [GRCh38]
Chr10:73767329 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*900C>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001102969] Chr10:72009371 [GRCh38]
Chr10:73769129 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*969A>C single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001102970] Chr10:72009440 [GRCh38]
Chr10:73769198 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1496C>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001103064] Chr10:72009967 [GRCh38]
Chr10:73769725 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2484A>G single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001108349] Chr10:72010955 [GRCh38]
Chr10:73770713 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3391A>C single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001108442] Chr10:72011862 [GRCh38]
Chr10:73771620 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3542A>G single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001108443] Chr10:72012013 [GRCh38]
Chr10:73771771 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2717C>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001103171] Chr10:72011188 [GRCh38]
Chr10:73770946 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4556A>G single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001103357] Chr10:72013027 [GRCh38]
Chr10:73772785 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.168_186dup (p.Asn63fs) duplication not provided [RCV001090815] Chr10:72007196..72007197 [GRCh38]
Chr10:73766954..73766955 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_004273.5(CHST3):c.*2845G>C single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001105088] Chr10:72011316 [GRCh38]
Chr10:73771074 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2869G>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001105090] Chr10:72011340 [GRCh38]
Chr10:73771098 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.1185G>A (p.Pro395=) single nucleotide variant not provided [RCV000913354] Chr10:72008216 [GRCh38]
Chr10:73767974 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.108C>G (p.Val36=) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV000956835] Chr10:72005950 [GRCh38]
Chr10:73765708 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.503T>G (p.Ile168Ser) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001028033] Chr10:72007534 [GRCh38]
Chr10:73767292 [GRCh37]
Chr10:10q22.1
pathogenic
NM_004273.5(CHST3):c.1044C>G (p.Ile348Met) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001108083] Chr10:72008075 [GRCh38]
Chr10:73767833 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2728C>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001103172] Chr10:72011199 [GRCh38]
Chr10:73770957 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2352G>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001108347] Chr10:72010823 [GRCh38]
Chr10:73770581 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1811C>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001104979] Chr10:72010282 [GRCh38]
Chr10:73770040 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3961T>C single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001105181] Chr10:72012432 [GRCh38]
Chr10:73772190 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1762C>G single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001104978] Chr10:72010233 [GRCh38]
Chr10:73769991 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3877A>G single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001105180] Chr10:72012348 [GRCh38]
Chr10:73772106 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3272C>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001106222] Chr10:72011743 [GRCh38]
Chr10:73771501 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4108G>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001106307] Chr10:72012579 [GRCh38]
Chr10:73772337 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*5026C>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001106406] Chr10:72013497 [GRCh38]
Chr10:73773255 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2170T>G single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001106137] Chr10:72010641 [GRCh38]
Chr10:73770399 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*2257G>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001106138] Chr10:72010728 [GRCh38]
Chr10:73770486 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3040G>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001106221] Chr10:72011511 [GRCh38]
Chr10:73771269 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3301G>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001106223] Chr10:72011772 [GRCh38]
Chr10:73771530 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.1380C>A (p.Ala460=) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001102870] Chr10:72008411 [GRCh38]
Chr10:73768169 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2535C>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001103170] Chr10:72011006 [GRCh38]
Chr10:73770764 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3633C>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001103263] Chr10:72012104 [GRCh38]
Chr10:73771862 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4523A>G single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001103356] Chr10:72012994 [GRCh38]
Chr10:73772752 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4580G>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001103358] Chr10:72013051 [GRCh38]
Chr10:73772809 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2464C>G single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001108348] Chr10:72010935 [GRCh38]
Chr10:73770693 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.*1726C>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001103066] Chr10:72010197 [GRCh38]
Chr10:73769955 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.-300C>G single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001102762] Chr10:71964502 [GRCh38]
Chr10:73724260 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2856G>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001105089] Chr10:72011327 [GRCh38]
Chr10:73771085 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2895G>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001105091] Chr10:72011366 [GRCh38]
Chr10:73771124 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4265T>G single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001106309] Chr10:72012736 [GRCh38]
Chr10:73772494 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4886G>C single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001106405] Chr10:72013357 [GRCh38]
Chr10:73773115 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.1327G>A (p.Ala443Thr) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001102869] Chr10:72008358 [GRCh38]
Chr10:73768116 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2810C>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001103173] Chr10:72011281 [GRCh38]
Chr10:73771039 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*786G>C single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001108167] Chr10:72009257 [GRCh38]
Chr10:73769015 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*1453G>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001108259] Chr10:72009924 [GRCh38]
Chr10:73769682 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2349A>C single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001108346] Chr10:72010820 [GRCh38]
Chr10:73770578 [GRCh37]
Chr10:10q22.1
likely benign
NM_004273.5(CHST3):c.*3340A>G single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001108441] Chr10:72011811 [GRCh38]
Chr10:73771569 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*3706G>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001103264] Chr10:72012177 [GRCh38]
Chr10:73771935 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*4300G>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001108529] Chr10:72012771 [GRCh38]
Chr10:73772529 [GRCh37]
Chr10:10q22.1
benign
NM_004273.5(CHST3):c.1291dup (p.Ser431fs) duplication Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001228470] Chr10:72008321..72008322 [GRCh38]
Chr10:73768079..73768080 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_004273.5(CHST3):c.688G>T (p.Glu230Ter) single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001213781] Chr10:72007719 [GRCh38]
Chr10:73767477 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.-98G>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001104679] Chr10:72005745 [GRCh38]
Chr10:73765503 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*57G>T single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001104791] Chr10:72008528 [GRCh38]
Chr10:73768286 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004273.5(CHST3):c.*2830G>A single nucleotide variant Spondyloepiphyseal dysplasia with congenital joint dislocations [RCV001105087] Chr10:72011301 [GRCh38]
Chr10:73771059 [GRCh37]
Chr10:10q22.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1971 AgrOrtholog
COSMIC CHST3 COSMIC
Ensembl Genes ENSG00000122863 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000362207 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373115 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000122863 GTEx
HGNC ID HGNC:1971 ENTREZGENE
Human Proteome Map CHST3 Human Proteome Map
InterPro Carbohydrate_sulfotransferase UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
  Sulfotransferase_dom UniProtKB/Swiss-Prot
KEGG Report hsa:9469 UniProtKB/Swiss-Prot
NCBI Gene 9469 ENTREZGENE
OMIM 143095 OMIM
  603799 OMIM
Pfam Sulfotransfer_1 UniProtKB/Swiss-Prot
PharmGKB PA26503 PharmGKB
PIRSF Carbohydrate_sulfotransferase UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt CHST3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O75099 UniProtKB/Swiss-Prot
  Q52M30 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-17 CHST3  carbohydrate sulfotransferase 3    carbohydrate (chondroitin 6) sulfotransferase 3  Symbol and/or name change 5135510 APPROVED
2011-08-17 CHST3  carbohydrate (chondroitin 6) sulfotransferase 3  CHST3  carbohydrate (chondroitin 6) sulfotransferase 3  Symbol and/or name change 5135510 APPROVED