COMP (cartilage oligomeric matrix protein) - Rat Genome Database

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Gene: COMP (cartilage oligomeric matrix protein) Homo sapiens
Analyze
Symbol: COMP
Name: cartilage oligomeric matrix protein
RGD ID: 736605
HGNC Page HGNC
Description: Enables several functions, including heparan sulfate proteoglycan binding activity; heparin binding activity; and protease binding activity. Involved in limb development and negative regulation of apoptotic process. Located in extracellular exosome. Colocalizes with collagen-containing extracellular matrix. Implicated in carpal tunnel syndrome; multiple epiphyseal dysplasia 1; osteochondrodysplasia; and pseudoachondroplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple); cartilage oligomeric matrix protein(pseudoachondroplasia, epiphyseal dysplasia 1, multiple); CTS2; EDM1; EPD1; MED; MGC131819; MGC149768; PSACH; pseudoachondroplasia (epiphyseal dysplasia 1, multiple); THBS5; thrombospondin-5; TSP5
RGD Orthologs
Mouse
Rat
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 Ensembl1918,782,773 - 18,791,305 (-)EnsemblGRCh38hg38GRCh38
GRCh381918,782,773 - 18,791,305 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371918,893,583 - 18,902,114 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361918,754,583 - 18,763,114 (-)NCBINCBI36hg18NCBI36
Build 341918,754,583 - 18,763,114NCBI
Celera1918,798,378 - 18,806,909 (-)NCBI
Cytogenetic Map19p13.11NCBI
HuRef1918,458,025 - 18,466,569 (-)NCBIHuRef
CHM1_11918,893,587 - 18,902,107 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
Abnormal acetabulum morphology  (IAGP)
Abnormal ossification involving the femoral head and neck  (IAGP)
Acetabular dysplasia  (IAGP)
Ankle pain  (IAGP)
Arthralgia  (IAGP)
Arthralgia of the hip  (IAGP)
Atlantoaxial dislocation  (IAGP)
Autosomal dominant inheritance  (IAGP)
Avascular necrosis of the capital femoral epiphysis  (IAGP)
Beaking of vertebral bodies  (IAGP)
Brachydactyly  (IAGP)
Broad femoral neck  (IAGP)
Carpal bone hypoplasia  (IAGP)
Cervical cord compression  (IAGP)
Cervical spine instability  (IAGP)
Childhood onset short-limb short stature  (IAGP)
Cone-shaped epiphysis  (IAGP)
Constrictive median neuropathy  (IAGP)
Coxa vara  (IAGP)
Delayed epiphyseal ossification  (IAGP)
Disproportionate short stature  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Distal joint laxity  (IAGP)
Epiphyseal dysplasia  (IAGP)
Finger joint hypermobility  (IAGP)
Flared femoral metaphysis  (IAGP)
Flared metaphysis  (IAGP)
Flat acetabular roof  (IAGP)
Fragmented epiphyses  (IAGP)
Fragmented, irregular epiphyses  (IAGP)
Generalized joint laxity  (IAGP)
Genu recurvatum  (IAGP)
Genu valgum  (IAGP)
Genu varum  (IAGP)
Hand pain  (IAGP)
Hand paresthesia  (IAGP)
Heterogeneous  (IAGP)
Hip dysplasia  (IAGP)
Hip osteoarthritis  (IAGP)
Hypoplasia of the capital femoral epiphysis  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Hypoplastic pelvis  (IAGP)
Increased laxity of ankles  (IAGP)
Increased laxity of fingers  (IAGP)
Irregular acetabular roof  (IAGP)
Irregular carpal bones  (IAGP)
Irregular epiphyses  (IAGP)
Irregular vertebral endplates  (IAGP)
Joint laxity  (IAGP)
Joint stiffness  (IAGP)
Knee joint hypermobility  (IAGP)
Knee pain  (IAGP)
Kyphosis  (IAGP)
Limb undergrowth  (IAGP)
Limited elbow extension  (IAGP)
Limited hip extension  (IAGP)
Limited hip movement  (IAGP)
Limited shoulder movement  (IAGP)
Lumbar hyperlordosis  (IAGP)
Metaphyseal irregularity  (IAGP)
Mild short stature  (IAGP)
Osteoarthritis  (IAGP)
Ovoid vertebral bodies  (IAGP)
Platyspondyly  (IAGP)
Positive carpal Tinel sign  (IAGP)
Positive Phalen test  (IAGP)
Postexertional malaise  (IAGP)
Radial metaphyseal irregularity  (IAGP)
Scoliosis  (IAGP)
Sensory neuropathy  (IAGP)
Severe short stature  (IAGP)
Short distal phalanx of finger  (IAGP)
Short femoral neck  (IAGP)
Short long bone  (IAGP)
Short metacarpal  (IAGP)
Short phalanx of finger  (IAGP)
Shortening of all metacarpals  (IAGP)
Skeletal myopathy  (IAGP)
Small epiphyses  (IAGP)
Small epiphyses of the phalanges of the hand  (IAGP)
Spatulate ribs  (IAGP)
Thenar muscle atrophy  (IAGP)
Ulnar deviation of the hand  (IAGP)
Ulnar deviation of the wrist  (IAGP)
Ulnar metaphyseal irregularity  (IAGP)
Waddling gait  (IAGP)
Wind-swept deformity of the knees  (IAGP)
References

Additional References at PubMed
PMID:7533784   PMID:7713493   PMID:8125298   PMID:8279467   PMID:8307576   PMID:9021009   PMID:9184241   PMID:9463320   PMID:9685393   PMID:9749943   PMID:9887340   PMID:9921895  
PMID:10405447   PMID:10852928   PMID:11084047   PMID:11501943   PMID:11565064   PMID:11746044   PMID:11746045   PMID:11782471   PMID:11891674   PMID:12225811   PMID:12477932   PMID:12483304  
PMID:12768438   PMID:12792737   PMID:12819015   PMID:15047691   PMID:15057824   PMID:15075323   PMID:15266613   PMID:15472220   PMID:15489334   PMID:15523498   PMID:15694129   PMID:15749701  
PMID:15880723   PMID:16051604   PMID:16214313   PMID:16340129   PMID:16344560   PMID:16520029   PMID:16542502   PMID:16611630   PMID:16802351   PMID:17033713   PMID:17195216   PMID:17570134  
PMID:17579668   PMID:17588949   PMID:17894003   PMID:17993464   PMID:18193163   PMID:18485748   PMID:18855621   PMID:19035482   PMID:19087608   PMID:19125286   PMID:19276170   PMID:19447929  
PMID:19605679   PMID:19762713   PMID:19877068   PMID:19913121   PMID:20033473   PMID:20301302   PMID:20301660   PMID:20544356   PMID:20551380   PMID:20628086   PMID:20819661   PMID:21029365  
PMID:21042783   PMID:21221577   PMID:21599986   PMID:21616158   PMID:21644213   PMID:21834907   PMID:21843649   PMID:21872564   PMID:21873635   PMID:21922596   PMID:21940632   PMID:21965141  
PMID:22068351   PMID:22163547   PMID:22241609   PMID:22253028   PMID:22264230   PMID:22573329   PMID:22660798   PMID:22764748   PMID:23133613   PMID:23376485   PMID:23507196   PMID:23528838  
PMID:23533145   PMID:23562786   PMID:23875975   PMID:23915292   PMID:23959964   PMID:24187101   PMID:24229584   PMID:24330664   PMID:24376648   PMID:24595329   PMID:24907621   PMID:24917676  
PMID:25057126   PMID:25111190   PMID:25380520   PMID:25416956   PMID:25430711   PMID:25835418   PMID:26168731   PMID:26269256   PMID:26634947   PMID:26848781   PMID:27065333   PMID:27068509  
PMID:27217240   PMID:27251407   PMID:27385219   PMID:27432013   PMID:27455560   PMID:27699484   PMID:27930497   PMID:28319091   PMID:28685811   PMID:28849199   PMID:28889184   PMID:28924040  
PMID:28951969   PMID:29030641   PMID:29104872   PMID:29164307   PMID:29351749   PMID:29369406   PMID:29530484   PMID:29560517   PMID:30100245   PMID:30213581   PMID:30217750   PMID:30231922  
PMID:30464261   PMID:30502262   PMID:30502484   PMID:30720083   PMID:30995524   PMID:30999932   PMID:31177591   PMID:31495329   PMID:31515488   PMID:31665048   PMID:31696983   PMID:31944379  
PMID:32057837   PMID:32296183   PMID:32497304   PMID:32686688   PMID:32694731   PMID:32754278   PMID:33030144   PMID:33438071   PMID:33472398   PMID:33748277  


Genomics

Comparative Map Data
COMP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1918,782,773 - 18,791,305 (-)EnsemblGRCh38hg38GRCh38
GRCh381918,782,773 - 18,791,305 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371918,893,583 - 18,902,114 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361918,754,583 - 18,763,114 (-)NCBINCBI36hg18NCBI36
Build 341918,754,583 - 18,763,114NCBI
Celera1918,798,378 - 18,806,909 (-)NCBI
Cytogenetic Map19p13.11NCBI
HuRef1918,458,025 - 18,466,569 (-)NCBIHuRef
CHM1_11918,893,587 - 18,902,107 (-)NCBICHM1_1
Comp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39870,826,186 - 70,834,721 (+)NCBIGRCm39mm39
GRCm39 Ensembl870,826,208 - 70,834,716 (+)Ensembl
GRCm38870,373,548 - 70,382,066 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl870,373,558 - 70,382,066 (+)EnsemblGRCm38mm10GRCm38
MGSCv37872,897,447 - 72,905,965 (+)NCBIGRCm37mm9NCBIm37
MGSCv36873,302,547 - 73,311,055 (+)NCBImm8
Celera872,929,973 - 72,938,489 (+)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map834.15NCBI
Comp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21619,047,206 - 19,055,584 (-)NCBI
Rnor_6.0 Ensembl1620,798,437 - 20,807,070 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01620,798,437 - 20,807,070 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01620,647,382 - 20,657,932 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1619,237,609 - 19,245,998 (-)NCBICelera
Cytogenetic Map16p14NCBI
COMP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11919,229,420 - 19,238,053 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1919,229,562 - 19,238,008 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01918,222,270 - 18,230,936 (-)NCBIMhudiblu_PPA_v0panPan3
COMP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12044,306,813 - 44,314,575 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2044,306,859 - 44,314,625 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2044,221,457 - 44,229,145 (+)NCBI
ROS_Cfam_1.02044,793,007 - 44,800,779 (+)NCBI
UMICH_Zoey_3.12044,030,270 - 44,038,042 (+)NCBI
UNSW_CanFamBas_1.02044,440,677 - 44,448,355 (+)NCBI
UU_Cfam_GSD_1.02044,715,955 - 44,723,648 (+)NCBI
LOC101958591
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118202,995,236 - 203,002,126 (+)NCBI
SpeTri2.0NW_0049365962,544,389 - 2,551,155 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COMP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl259,061,420 - 59,068,949 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1259,061,409 - 59,068,951 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2258,815,756 - 58,823,293 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103234192
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1617,246,617 - 17,255,561 (-)NCBI
ChlSab1.1 Ensembl617,246,762 - 17,255,126 (-)Ensembl
Vero_WHO_p1.0NW_0236660742,070,833 - 2,079,420 (+)NCBI
Comp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249081,870,975 - 1,877,434 (-)NCBI

Position Markers
GDB:681601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,896,782 - 18,896,953UniSTSGRCh37
Build 361918,757,782 - 18,757,953RGDNCBI36
Celera1918,801,577 - 18,801,748RGD
Cytogenetic Map19p13.1UniSTS
HuRef1918,461,224 - 18,461,395UniSTS
GDB:681607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,898,573 - 18,899,070UniSTSGRCh37
Build 361918,759,573 - 18,760,070RGDNCBI36
Celera1918,803,368 - 18,803,865RGD
Cytogenetic Map19p13.1UniSTS
HuRef1918,463,010 - 18,463,525UniSTS
STS-L32137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,893,611 - 18,893,733UniSTSGRCh37
Build 361918,754,611 - 18,754,733RGDNCBI36
Celera1918,798,406 - 18,798,528RGD
Cytogenetic Map19p13.1UniSTS
HuRef1918,458,053 - 18,458,175UniSTS
GeneMap99-GB4 RH Map19105.54UniSTS
NCBI RH Map19163.6UniSTS
STS-N94385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,893,611 - 18,893,925UniSTSGRCh37
Build 361918,754,611 - 18,754,925RGDNCBI36
Celera1918,798,406 - 18,798,720RGD
Cytogenetic Map19p13.1UniSTS
HuRef1918,458,053 - 18,458,367UniSTS
GeneMap99-GB4 RH Map19101.89UniSTS
COMP  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,895,777 - 18,896,346UniSTSGRCh37
Celera1918,800,572 - 18,801,141UniSTS
HuRef1918,460,219 - 18,460,788UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1318
Count of miRNA genes:473
Interacting mature miRNAs:525
Transcripts:ENST00000222271, ENST00000425807, ENST00000542601, ENST00000546510
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 1 104 1 125 2 2 18 105
Medium 181 1503 330 137 30 32 3025 248 683 36 710 574 108 1 770 1954 3
Low 1510 442 550 126 335 69 765 1268 534 184 436 811 57 399 525 2
Below cutoff 692 883 724 259 1300 261 391 664 2237 136 285 167 5 17 204 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB086984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF069520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU120397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L32137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000222271   ⟹   ENSP00000222271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1918,782,773 - 18,791,305 (-)Ensembl
RefSeq Acc Id: ENST00000425807   ⟹   ENSP00000403792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1918,782,774 - 18,791,305 (-)Ensembl
RefSeq Acc Id: ENST00000542601   ⟹   ENSP00000439156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1918,782,773 - 18,791,305 (-)Ensembl
RefSeq Acc Id: ENST00000612179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1918,786,118 - 18,787,035 (-)Ensembl
RefSeq Acc Id: NM_000095   ⟹   NP_000086
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,782,773 - 18,791,305 (-)NCBI
GRCh371918,893,583 - 18,902,114 (-)ENTREZGENE
GRCh371918,893,583 - 18,902,114 (-)NCBI
Build 361918,754,583 - 18,763,114 (-)NCBI Archive
HuRef1918,458,025 - 18,466,569 (-)ENTREZGENE
CHM1_11918,893,587 - 18,902,107 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000086   ⟸   NM_000095
- Peptide Label: precursor
- UniProtKB: P49747 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000439156   ⟸   ENST00000542601
RefSeq Acc Id: ENSP00000403792   ⟸   ENST00000425807
RefSeq Acc Id: ENSP00000222271   ⟸   ENST00000222271
Protein Domains
EGF-like   TSP C-terminal

Promoters
RGD ID:7239181
Promoter ID:EPDNEW_H25335
Type:multiple initiation site
Name:COMP_1
Description:cartilage oligomeric matrix protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,791,305 - 18,791,365EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
COMP, 3-BP DEL, 1139GAC deletion Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000029149] Chr19:19p13.1 pathogenic
COMP, 3-BP DEL, 459TCA deletion Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009763] Chr19:19p13.1 pathogenic
COMP, 3-BP DEL, 1430GAC deletion Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009764] Chr19:19p13.1 pathogenic
NM_000095.3(COMP):c.1405GAC[7] (p.Asp472_Asp473dup) microsatellite Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009770] Chr19:18786034..18786035 [GRCh38]
Chr19:18896844..18896845 [GRCh37]
Chr19:19p13.11
pathogenic
COMP, 533-BP DEL, EX9 deletion Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009774] Chr19:19p13.1 pathogenic
NM_000095.3(COMP):c.2223dup (p.Asn742fs) duplication Multiple epiphyseal dysplasia 1 [RCV000009775] Chr19:18783057..18783058 [GRCh38]
Chr19:18893867..18893868 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1195G>A (p.Asp399Asn) single nucleotide variant not provided [RCV000521517] Chr19:18786591 [GRCh38]
Chr19:18897401 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1255-26G>A single nucleotide variant not provided [RCV000519681] Chr19:18786317 [GRCh38]
Chr19:18897127 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1414G>T (p.Asp472Tyr) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009761] Chr19:18786040 [GRCh38]
Chr19:18896850 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1403G>A (p.Cys468Tyr) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009762] Chr19:18786051 [GRCh38]
Chr19:18896861 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1024G>T (p.Asp342Tyr) single nucleotide variant Epiphyseal dysplasia, multiple, 1, severe [RCV000009765] Chr19:18787602 [GRCh38]
Chr19:18898411 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.982T>C (p.Cys328Arg) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009766] Chr19:18787644 [GRCh38]
Chr19:18898453 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000009767] Chr19:18785772 [GRCh38]
Chr19:18896582 [GRCh37]
Chr19:19p13.11
pathogenic|likely pathogenic
NM_000095.3(COMP):c.1358A>G (p.Asn453Ser) single nucleotide variant Epiphyseal dysplasia, multiple, 1, severe [RCV000009768] Chr19:18786096 [GRCh38]
Chr19:18896906 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1418A>G (p.Asp473Gly) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009769] Chr19:18786036 [GRCh38]
Chr19:18896846 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.2(COMP):c.1417_1419dupGAC (p.Asp473_Asn474insAsp) microsatellite Multiple epiphyseal dysplasia 1 [RCV000009771]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033881]|not provided [RCV001090556] Chr19:18786034..18786035 [GRCh38]
Chr19:18896844..18896845 [GRCh37]
Chr19:19p13.11
pathogenic|likely pathogenic
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp) single nucleotide variant Pseudoachondroplasia, severe [RCV000009772]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033890] Chr19:18783125 [GRCh38]
Chr19:18893935 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1042T>C (p.Cys348Arg) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009773] Chr19:18787584 [GRCh38]
Chr19:18898393 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) single nucleotide variant Carpal tunnel syndrome 2 [RCV001289465]|Multiple epiphyseal dysplasia 1 [RCV000009776]|not provided [RCV001268837] Chr19:18783129 [GRCh38]
Chr19:18893939 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1156A>G (p.Asn386Asp) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000055747]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033879]|not provided [RCV001523353]|not specified [RCV000242913] Chr19:18786630 [GRCh38]
Chr19:18897440 [GRCh37]
Chr19:19p13.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del) microsatellite Multiple epiphyseal dysplasia 1 [RCV001332185]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033880]|not provided [RCV000486037] Chr19:18786035..18786037 [GRCh38]
Chr19:18896845..18896847 [GRCh37]
Chr19:19p13.11
pathogenic|likely pathogenic
NM_000095.3(COMP):c.1586C>T (p.Thr529Ile) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033882]|not provided [RCV000489545] Chr19:18785755 [GRCh38]
Chr19:18896565 [GRCh37]
Chr19:19p13.11
pathogenic|uncertain significance
NM_000095.3(COMP):c.1747G>A (p.Glu583Lys) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033884] Chr19:18785063 [GRCh38]
Chr19:18895873 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1754C>A (p.Thr585Lys) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033885] Chr19:18785056 [GRCh38]
Chr19:18895866 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000055751]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033886] Chr19:18785056 [GRCh38]
Chr19:18895866 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1754C>T (p.Thr585Met) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000055752]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033887]|not provided [RCV001388112] Chr19:18785056 [GRCh38]
Chr19:18895866 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1760A>G (p.His587Arg) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033888]|not provided [RCV000254993] Chr19:18785050 [GRCh38]
Chr19:18895860 [GRCh37]
Chr19:19p13.11
pathogenic|likely pathogenic
NM_000095.3(COMP):c.2155G>A (p.Gly719Ser) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033889]|not provided [RCV001390635] Chr19:18783126 [GRCh38]
Chr19:18893936 [GRCh37]
Chr19:19p13.11
pathogenic
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11
pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11
pathogenic
NM_000095.3(COMP):c.1156_1158del (p.Asn386del) deletion Multiple epiphyseal dysplasia 1 [RCV000055748] Chr19:18786628..18786630 [GRCh38]
Chr19:18897438..18897440 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1665C>A (p.Asn555Lys) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000055750] Chr19:18785676 [GRCh38]
Chr19:18896486 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1813G>A (p.Asp605Asn) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000055753] Chr19:18784997 [GRCh38]
Chr19:18895807 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.2042C>G (p.Ser681Cys) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000055754] Chr19:18784236 [GRCh38]
Chr19:18895046 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.2153G>C (p.Arg718Pro) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000055755] Chr19:18783128 [GRCh38]
Chr19:18893938 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.2262G>A (p.Leu754=) single nucleotide variant not provided [RCV000911517]|not specified [RCV000175389] Chr19:18782927 [GRCh38]
Chr19:18893737 [GRCh37]
Chr19:19p13.11
benign
NM_000095.3(COMP):c.511G>A (p.Ala171Thr) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000354091]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000259246]|none provided [RCV001287266]|not provided [RCV000881662]|not specified [RCV000178711] Chr19:18789177 [GRCh38]
Chr19:18899986 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.1568A>G (p.Asn523Ser) single nucleotide variant not provided [RCV001303493] Chr19:18785773 [GRCh38]
Chr19:18896583 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12
pathogenic|likely pathogenic
NM_000095.2:c.1679A>G single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033883] Chr19:19p13.1 pathogenic
NM_000095.3(COMP):c.1279_1291del (p.Gly427fs) deletion not provided [RCV000224737] Chr19:18786255..18786267 [GRCh38]
Chr19:18897065..18897077 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1737C>T (p.Gly579=) single nucleotide variant not provided [RCV000757128] Chr19:18785073 [GRCh38]
Chr19:18895883 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1675G>A (p.Glu559Lys) single nucleotide variant not provided [RCV000755982] Chr19:18785540 [GRCh38]
Chr19:18896350 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1829A>G (p.Tyr610Cys) single nucleotide variant Inborn genetic diseases [RCV000622479] Chr19:18784981 [GRCh38]
Chr19:18895791 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1502G>A (p.Gly501Asp) single nucleotide variant not provided [RCV000520014] Chr19:18785839 [GRCh38]
Chr19:18896649 [GRCh37]
Chr19:19p13.11
pathogenic|likely pathogenic
NM_000095.3(COMP):c.2228-40T>C single nucleotide variant not specified [RCV000243520] Chr19:18783001 [GRCh38]
Chr19:18893811 [GRCh37]
Chr19:19p13.11
benign
NM_000095.3(COMP):c.*1G>C single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000266934]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000322017]|not specified [RCV000250953] Chr19:18782914 [GRCh38]
Chr19:18893724 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.762+12C>A single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000397614]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000306627]|not specified [RCV000243837] Chr19:18788580 [GRCh38]
Chr19:18899389 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.1755G>T (p.Thr585=) single nucleotide variant not specified [RCV000241607] Chr19:18785055 [GRCh38]
Chr19:18895865 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1915-45C>T single nucleotide variant not specified [RCV000246572] Chr19:18784408 [GRCh38]
Chr19:18895218 [GRCh37]
Chr19:19p13.11
benign
NM_000095.3(COMP):c.218-14C>T single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000395471]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000283361]|none provided [RCV001283676]|not specified [RCV000251511] Chr19:18790128 [GRCh38]
Chr19:18900937 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.2267A>G (p.Gln756Arg) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000376728]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000282272]|not provided [RCV001521405]|not specified [RCV000246867] Chr19:18782922 [GRCh38]
Chr19:18893732 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.165+41G>C single nucleotide variant not specified [RCV000247898] Chr19:18790809 [GRCh38]
Chr19:18901618 [GRCh37]
Chr19:19p13.11
benign
NM_000095.3(COMP):c.1755G>A (p.Thr585=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000308597]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000363252]|not provided [RCV001517626]|not specified [RCV000252866] Chr19:18785055 [GRCh38]
Chr19:18895865 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.588G>A (p.Val196=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000302932]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000357759] Chr19:18788854 [GRCh38]
Chr19:18899663 [GRCh37]
Chr19:19p13.11
likely benign|uncertain significance
NM_000095.3(COMP):c.87C>T (p.Asp29=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000272336]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000366967] Chr19:18790928 [GRCh38]
Chr19:18901737 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.410T>C (p.Phe137Ser) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000330560]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000275499]|not provided [RCV001435909] Chr19:18789278 [GRCh38]
Chr19:18900087 [GRCh37]
Chr19:19p13.11
likely benign|uncertain significance
NM_000095.3(COMP):c.868-4C>T single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000371849]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000296158]|none provided [RCV001287410]|not provided [RCV000912964] Chr19:18788323 [GRCh38]
Chr19:18899132 [GRCh37]
Chr19:19p13.11
likely benign|uncertain significance
NM_000095.3(COMP):c.1993C>A (p.Arg665=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000278977]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000352592] Chr19:18784285 [GRCh38]
Chr19:18895095 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.195G>A (p.Thr65=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000299030]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000353836]|not provided [RCV001515595] Chr19:18790584 [GRCh38]
Chr19:18901393 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.-9G>T single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000268665]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000323795] Chr19:18791278 [GRCh38]
Chr19:18902087 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.*92G>A single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000365546]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000270982] Chr19:18782823 [GRCh38]
Chr19:18893633 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.1979C>G (p.Thr660Arg) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000394504]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000312363] Chr19:18784299 [GRCh38]
Chr19:18895109 [GRCh37]
Chr19:19p13.11
likely benign|uncertain significance
NM_000095.3(COMP):c.*15A>G single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000325933]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000380566] Chr19:18782900 [GRCh38]
Chr19:18893710 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.1222G>C (p.Asp408His) single nucleotide variant not provided [RCV000344582] Chr19:18786564 [GRCh38]
Chr19:18897374 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.954_955delinsTT (p.Asp319Tyr) indel not provided [RCV000346244] Chr19:18788232..18788233 [GRCh38]
Chr19:18899041..18899042 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.279C>A (p.Pro93=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000381801]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000327159]|not provided [RCV000883104] Chr19:18790053 [GRCh38]
Chr19:18900862 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.1590C>A (p.Asp530Glu) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000375163]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000320583] Chr19:18785751 [GRCh38]
Chr19:18896561 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.*111A>G single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000329311]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000274258] Chr19:18782804 [GRCh38]
Chr19:18893614 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1110G>A (p.Ala370=) single nucleotide variant not provided [RCV000387736] Chr19:18787516 [GRCh38]
Chr19:18898325 [GRCh37]
Chr19:19p13.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000095.3(COMP):c.218-7C>G single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000287404]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000342349]|not provided [RCV001521071]|not specified [RCV000508522] Chr19:18790121 [GRCh38]
Chr19:18900930 [GRCh37]
Chr19:19p13.11
benign|likely benign|uncertain significance
NM_000095.3(COMP):c.875G>T (p.Cys292Phe) single nucleotide variant not provided [RCV000346176] Chr19:18788312 [GRCh38]
Chr19:18899121 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.468G>T (p.Pro156=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000369222]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000333202]|not provided [RCV000960985] Chr19:18789220 [GRCh38]
Chr19:18900029 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.2227+8G>A single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000373360]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000337323]|not provided [RCV000513897]|not specified [RCV001001530] Chr19:18783046 [GRCh38]
Chr19:18893856 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.366C>T (p.Gly122=) single nucleotide variant not provided [RCV000362277] Chr19:18789966 [GRCh38]
Chr19:18900775 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.218-14C>G single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000395468]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000338447] Chr19:18790128 [GRCh38]
Chr19:18900937 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.566A>G (p.His189Arg) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000263010]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000299405] Chr19:18788876 [GRCh38]
Chr19:18899685 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1668+13T>A single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000360258]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000265518] Chr19:18785660 [GRCh38]
Chr19:18896470 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.867+11G>A single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000350020]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000385885] Chr19:18788399 [GRCh38]
Chr19:18899208 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1668+13T>G single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000268733]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000305183]|not specified [RCV001001512] Chr19:18785660 [GRCh38]
Chr19:18896470 [GRCh37]
Chr19:19p13.11
benign|uncertain significance
NM_000095.3(COMP):c.525G>C (p.Lys175Asn) single nucleotide variant not provided [RCV000489487] Chr19:18789163 [GRCh38]
Chr19:18899972 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) single nucleotide variant not provided [RCV001269651] Chr19:18786633 [GRCh38]
Chr19:18897443 [GRCh37]
Chr19:19p13.11
pathogenic|likely pathogenic
NM_000095.3(COMP):c.763-6C>G single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000291667]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000346603] Chr19:18788520 [GRCh38]
Chr19:18899329 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.165+9C>A single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000400676]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000314180] Chr19:18790841 [GRCh38]
Chr19:18901650 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.2(COMP):c.*155G>C single nucleotide variant Multiple Epiphyseal Dysplasia, Dominant [RCV000319369]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000376384] Chr19:18782760 [GRCh38]
Chr19:18893570 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1836C>G (p.Val612=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000401733]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000348383] Chr19:18784974 [GRCh38]
Chr19:18895784 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.69G>A (p.Gln23=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000327520]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000363474] Chr19:18791201 [GRCh38]
Chr19:18902010 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.620G>A (p.Gly207Asp) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000342765]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000399990] Chr19:18788734 [GRCh38]
Chr19:18899543 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.377C>T (p.Thr126Ile) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000385033]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000290716] Chr19:18789955 [GRCh38]
Chr19:18900764 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.218-15C>A single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001127817]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127818]|not provided [RCV000592194] Chr19:18790129 [GRCh38]
Chr19:18900938 [GRCh37]
Chr19:19p13.11
benign|likely benign|uncertain significance
NM_000095.3(COMP):c.956A>T (p.Asp319Val) single nucleotide variant not specified [RCV000414567] Chr19:18788231 [GRCh38]
Chr19:18899040 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11
pathogenic
NM_000095.3(COMP):c.869A>G (p.Asp290Gly) single nucleotide variant not provided [RCV000730702] Chr19:18788318 [GRCh38]
Chr19:18899127 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.763-8T>C single nucleotide variant not provided [RCV000734377] Chr19:18788522 [GRCh38]
Chr19:18899331 [GRCh37]
Chr19:19p13.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000095.3(COMP):c.1488C>A (p.Asp496Glu) single nucleotide variant not provided [RCV000974651]|not specified [RCV000733956] Chr19:18785966 [GRCh38]
Chr19:18896776 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.1981G>A (p.Glu661Lys) single nucleotide variant not provided [RCV000733347] Chr19:18784297 [GRCh38]
Chr19:18895107 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.867+15A>G single nucleotide variant not specified [RCV000438537] Chr19:18788395 [GRCh38]
Chr19:18899204 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1222G>A (p.Asp408Asn) single nucleotide variant not provided [RCV000423351] Chr19:18786564 [GRCh38]
Chr19:18897374 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1112G>A (p.Cys371Tyr) single nucleotide variant not provided [RCV000433591] Chr19:18787514 [GRCh38]
Chr19:18898323 [GRCh37]
Chr19:19p13.11
likely pathogenic
GRCh37/hg19 19p13.11(chr19:18136482-19087534)x3 copy number gain See cases [RCV000449006] Chr19:18136482..19087534 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1533C>G (p.Asp511Glu) single nucleotide variant not provided [RCV000483120] Chr19:18785808 [GRCh38]
Chr19:18896618 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1021_1026del (p.Glu341_Asp342del) deletion not provided [RCV000486008] Chr19:18787600..18787605 [GRCh38]
Chr19:18898409..18898414 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1569C>A (p.Asn523Lys) single nucleotide variant not provided [RCV000498353] Chr19:18785772 [GRCh38]
Chr19:18896582 [GRCh37]
Chr19:19p13.11
likely pathogenic|uncertain significance
NM_000095.3(COMP):c.1322A>G (p.His441Arg) single nucleotide variant not provided [RCV000493700] Chr19:18786132 [GRCh38]
Chr19:18896942 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.811G>C (p.Asp271His) single nucleotide variant not provided [RCV000493984] Chr19:18788466 [GRCh38]
Chr19:18899275 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000505823] Chr19:18787500 [GRCh38]
Chr19:18898309 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.975+10C>T single nucleotide variant not specified [RCV000506702] Chr19:18788202 [GRCh38]
Chr19:18899011 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1148A>G (p.Gln383Arg) single nucleotide variant not specified [RCV000507241] Chr19:18786638 [GRCh38]
Chr19:18897448 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1247C>T (p.Pro416Leu) single nucleotide variant not provided [RCV000507629] Chr19:18786539 [GRCh38]
Chr19:18897349 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.762+1G>A single nucleotide variant not provided [RCV000493304] Chr19:18788591 [GRCh38]
Chr19:18899400 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1489+2T>A single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000494706] Chr19:18785963 [GRCh38]
Chr19:18896773 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1334G>A (p.Arg445Gln) single nucleotide variant not provided [RCV000519951] Chr19:18786120 [GRCh38]
Chr19:18896930 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_000095.3(COMP):c.2226T>C (p.Asn742=) single nucleotide variant not provided [RCV000597168] Chr19:18783055 [GRCh38]
Chr19:18893865 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_000095.3(COMP):c.1315G>A (p.Asp439Asn) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000853301] Chr19:18786139 [GRCh38]
Chr19:18896949 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1265A>C (p.Asp422Ala) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000761229] Chr19:18786281 [GRCh38]
Chr19:18897091 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.950A>T (p.Asp317Val) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000990190] Chr19:18788237 [GRCh38]
Chr19:18899046 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.2150T>G (p.Met717Arg) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000786925] Chr19:18783131 [GRCh38]
Chr19:18893941 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1872G>A (p.Ala624=) single nucleotide variant not provided [RCV000914614] Chr19:18784938 [GRCh38]
Chr19:18895748 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.399C>A (p.Ala133=) single nucleotide variant not provided [RCV000921770] Chr19:18789289 [GRCh38]
Chr19:18900098 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1518C>T (p.Asp506=) single nucleotide variant not provided [RCV000983343] Chr19:18785823 [GRCh38]
Chr19:18896633 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1368GGA[1] (p.Glu457del) microsatellite Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000995525] Chr19:18786081..18786083 [GRCh38]
Chr19:18896891..18896893 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000995526] Chr19:18786633 [GRCh38]
Chr19:18897443 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1642G>C (p.Asp548His) single nucleotide variant not provided [RCV001046138] Chr19:18785699 [GRCh38]
Chr19:18896509 [GRCh37]
Chr19:19p13.11
likely benign|uncertain significance
NM_000095.3(COMP):c.1740G>A (p.Val580=) single nucleotide variant not provided [RCV000888365] Chr19:18785070 [GRCh38]
Chr19:18895880 [GRCh37]
Chr19:19p13.11
benign
NM_000095.3(COMP):c.1506C>T (p.Asp502=) single nucleotide variant not provided [RCV000904109] Chr19:18785835 [GRCh38]
Chr19:18896645 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.2152C>A (p.Arg718=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001127558]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127557]|not provided [RCV000948474] Chr19:18783129 [GRCh38]
Chr19:18893939 [GRCh37]
Chr19:19p13.11
benign
NM_000095.3(COMP):c.79+7C>G single nucleotide variant not provided [RCV000909214] Chr19:18791184 [GRCh38]
Chr19:18901993 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.441G>C (p.Pro147=) single nucleotide variant not provided [RCV000895948] Chr19:18789247 [GRCh38]
Chr19:18900056 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.390+6C>T single nucleotide variant not provided [RCV000996826] Chr19:18789936 [GRCh38]
Chr19:18900745 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1552G>C (p.Asp518His) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000990188] Chr19:18785789 [GRCh38]
Chr19:18896599 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.818A>T (p.Asp273Val) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000990191] Chr19:18788459 [GRCh38]
Chr19:18899268 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.360C>T (p.Gly120=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001123638]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123639]|none provided [RCV001001771]|not provided [RCV000897029] Chr19:18789972 [GRCh38]
Chr19:18900781 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.984C>G (p.Cys328Trp) single nucleotide variant not provided [RCV000996825] Chr19:18787642 [GRCh38]
Chr19:18898451 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000990189] Chr19:18786139 [GRCh38]
Chr19:18896949 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.361_364dup (p.Gly122fs) duplication COMP-related disorders [RCV000984973] Chr19:18789967..18789968 [GRCh38]
Chr19:18900776..18900777 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.700C>T (p.Pro234Ser) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001124624]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124623]|not provided [RCV001300856] Chr19:18788654 [GRCh38]
Chr19:18899463 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.643G>C (p.Gly215Arg) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001124626]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124625] Chr19:18788711 [GRCh38]
Chr19:18899520 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.2213G>A (p.Arg738His) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001127555]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127556]|not provided [RCV001505858] Chr19:18783068 [GRCh38]
Chr19:18893878 [GRCh37]
Chr19:19p13.11
likely benign|uncertain significance
NM_000095.3(COMP):c.-15C>T single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001124811]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124812] Chr19:18791284 [GRCh38]
Chr19:18902093 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.381C>T (p.Asp127=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001127718]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127717] Chr19:18789951 [GRCh38]
Chr19:18900760 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1621C>G (p.Pro541Ala) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001125544]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001125543] Chr19:18785720 [GRCh38]
Chr19:18896530 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1200C>T (p.Gly400=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001127640]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001125547] Chr19:18786586 [GRCh38]
Chr19:18897396 [GRCh37]
Chr19:19p13.11
likely benign|uncertain significance
NM_000095.3(COMP):c.994C>A (p.Arg332=) single nucleotide variant not provided [RCV000909736] Chr19:18787632 [GRCh38]
Chr19:18898441 [GRCh37]
Chr19:19p13.11
benign
NM_000095.3(COMP):c.1248G>A (p.Pro416=) single nucleotide variant not provided [RCV000907739] Chr19:18786538 [GRCh38]
Chr19:18897348 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1490-5C>T single nucleotide variant not provided [RCV000940401] Chr19:18785856 [GRCh38]
Chr19:18896666 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.887C>G (p.Pro296Arg) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000853323] Chr19:18788300 [GRCh38]
Chr19:18899109 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.763T>C (p.Cys255Arg) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV000853330] Chr19:18788514 [GRCh38]
Chr19:18899323 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.141C>T (p.Asp47=) single nucleotide variant not provided [RCV000980310] Chr19:18790874 [GRCh38]
Chr19:18901683 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1404C>T (p.Cys468=) single nucleotide variant not provided [RCV000975996] Chr19:18786050 [GRCh38]
Chr19:18896860 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1830C>T (p.Tyr610=) single nucleotide variant not provided [RCV000969318] Chr19:18784980 [GRCh38]
Chr19:18895790 [GRCh37]
Chr19:19p13.11
benign
NM_000095.3(COMP):c.2014C>T (p.Arg672Ter) single nucleotide variant COMP-related disorders [RCV001127559] Chr19:18784264 [GRCh38]
Chr19:18895074 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.217+15G>A single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001127819]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127820] Chr19:18790547 [GRCh38]
Chr19:18901356 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1894G>A (p.Glu632Lys) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001123441]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123440] Chr19:18784916 [GRCh38]
Chr19:18895726 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.831_851del (p.Asp277_Pro283del) deletion not provided [RCV001090558] Chr19:18788426..18788446 [GRCh38]
Chr19:18899235..18899255 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.2272T>C (p.Ter758Gln) single nucleotide variant COMP-related disorders [RCV001125445] Chr19:18782917 [GRCh38]
Chr19:18893727 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1956C>T (p.Asn652=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001123439]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123438]|not provided [RCV000957928] Chr19:18784322 [GRCh38]
Chr19:18895132 [GRCh37]
Chr19:19p13.11
benign
NM_000095.3(COMP):c.1255-5C>T single nucleotide variant not provided [RCV000913838] Chr19:18786296 [GRCh38]
Chr19:18897106 [GRCh37]
Chr19:19p13.11
benign
NM_000095.3(COMP):c.345C>G (p.Pro115=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001123640]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123641] Chr19:18789987 [GRCh38]
Chr19:18900796 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.2088-4T>C single nucleotide variant not specified [RCV001001302] Chr19:18783197 [GRCh38]
Chr19:18894007 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1000_1014del (p.Pro334_Asn338del) deletion not specified [RCV001001307] Chr19:18787612..18787626 [GRCh38]
Chr19:18898421..18898435 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1803T>C (p.Phe601=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001124534]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124533] Chr19:18785007 [GRCh38]
Chr19:18895817 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.218-14C>A single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001125717]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001125716] Chr19:18790128 [GRCh38]
Chr19:18900937 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.876C>A (p.Cys292Ter) single nucleotide variant COMP-related disorders [RCV001127643] Chr19:18788311 [GRCh38]
Chr19:18899120 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.862C>A (p.Arg288Ser) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001123543]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123542] Chr19:18788415 [GRCh38]
Chr19:18899224 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.11A>C (p.Asp4Ala) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001122041]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001122042] Chr19:18791259 [GRCh38]
Chr19:18902068 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1318G>C (p.Gly440Arg) single nucleotide variant not specified [RCV001001082] Chr19:18786136 [GRCh38]
Chr19:18896946 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.437G>A (p.Ser146Asn) single nucleotide variant not specified [RCV001001200] Chr19:18789251 [GRCh38]
Chr19:18900060 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.934T>C (p.Cys312Arg) single nucleotide variant not provided [RCV001090557] Chr19:18788253 [GRCh38]
Chr19:18899062 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.850G>A (p.Glu284Lys) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001123545]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123544] Chr19:18788427 [GRCh38]
Chr19:18899236 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.327G>T (p.Ala109=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001123643]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123642] Chr19:18790005 [GRCh38]
Chr19:18900814 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.314C>A (p.Thr105Lys) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001123645]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123644] Chr19:18790018 [GRCh38]
Chr19:18900827 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1406A>T (p.Asp469Val) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001125546]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001125545] Chr19:18786048 [GRCh38]
Chr19:18896858 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.924C>T (p.Ile308=) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001127641]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127642] Chr19:18788263 [GRCh38]
Chr19:18899072 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.235C>A (p.Arg79Ser) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001124709]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124710] Chr19:18790097 [GRCh38]
Chr19:18900906 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.218-6C>G single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001124711]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124712]|not provided [RCV001520031] Chr19:18790120 [GRCh38]
Chr19:18900929 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000095.3(COMP):c.582C>G (p.Asn194Lys) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001125637]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001125636] Chr19:18788860 [GRCh38]
Chr19:18899669 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.218-13C>A single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001125715]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001125714] Chr19:18790127 [GRCh38]
Chr19:18900936 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.874T>C (p.Cys292Arg) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001250925]|not provided [RCV001383286] Chr19:18788313 [GRCh38]
Chr19:18899122 [GRCh37]
Chr19:19p13.11
pathogenic|likely pathogenic
NM_000095.3(COMP):c.1309G>A (p.Asp437Asn) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001250923] Chr19:18786145 [GRCh38]
Chr19:18896955 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1445A>T (p.Asp482Val) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001250922] Chr19:18786009 [GRCh38]
Chr19:18896819 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1201G>C (p.Asp401His) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001250924] Chr19:18786585 [GRCh38]
Chr19:18897395 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1416_1421del (p.Asn474_Asp475del) deletion Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001250926] Chr19:18786033..18786038 [GRCh38]
Chr19:18896843..18896848 [GRCh37]
Chr19:19p13.11
likely pathogenic
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12
pathogenic
NM_000095.3(COMP):c.79+102C>T single nucleotide variant none provided [RCV001285167] Chr19:18791089 [GRCh38]
Chr19:18901898 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1545C>G (p.Asp515Glu) single nucleotide variant not provided [RCV001307787] Chr19:18785796 [GRCh38]
Chr19:18896606 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1210G>A (p.Gly404Arg) single nucleotide variant Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001293718] Chr19:18786576 [GRCh38]
Chr19:18897386 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1255-2A>T single nucleotide variant not provided [RCV001351875] Chr19:18786293 [GRCh38]
Chr19:18897103 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.2012C>A (p.Pro671Gln) single nucleotide variant not provided [RCV001340754] Chr19:18784266 [GRCh38]
Chr19:18895076 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1160G>T (p.Cys387Phe) single nucleotide variant not provided [RCV001315590] Chr19:18786626 [GRCh38]
Chr19:18897436 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1454G>A (p.Arg485His) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001280839] Chr19:18786000 [GRCh38]
Chr19:18896810 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.197T>A (p.Val66Glu) single nucleotide variant Carpal tunnel syndrome 2 [RCV001289466] Chr19:18790582 [GRCh38]
Chr19:18901391 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.875G>A (p.Cys292Tyr) single nucleotide variant not provided [RCV001351276] Chr19:18788312 [GRCh38]
Chr19:18899121 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.832G>A (p.Glu278Lys) single nucleotide variant not provided [RCV001360483] Chr19:18788445 [GRCh38]
Chr19:18899254 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.811G>T (p.Asp271Tyr) single nucleotide variant not provided [RCV001342121] Chr19:18788466 [GRCh38]
Chr19:18899275 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1044C>A (p.Cys348Ter) single nucleotide variant not provided [RCV001321839] Chr19:18787582 [GRCh38]
Chr19:18898391 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1072G>T (p.Asp358Tyr) single nucleotide variant not provided [RCV001323017] Chr19:18787554 [GRCh38]
Chr19:18898363 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1032G>A (p.Trp344Ter) single nucleotide variant not provided [RCV001360936] Chr19:18787594 [GRCh38]
Chr19:18898403 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1403G>C (p.Cys468Ser) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001270873] Chr19:18786051 [GRCh38]
Chr19:18896861 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1201G>A (p.Asp401Asn) single nucleotide variant not provided [RCV001269548] Chr19:18786585 [GRCh38]
Chr19:18897395 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.307A>G (p.Ile103Val) single nucleotide variant not provided [RCV001300334] Chr19:18790025 [GRCh38]
Chr19:18900834 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.320G>A (p.Ser107Asn) single nucleotide variant not provided [RCV001340935] Chr19:18790012 [GRCh38]
Chr19:18900821 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1883G>C (p.Arg628Pro) single nucleotide variant not provided [RCV001356068] Chr19:18784927 [GRCh38]
Chr19:18895737 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1532A>T (p.Asp511Val) single nucleotide variant not provided [RCV001341269] Chr19:18785809 [GRCh38]
Chr19:18896619 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1247C>A (p.Pro416Gln) single nucleotide variant not provided [RCV001322321] Chr19:18786539 [GRCh38]
Chr19:18897349 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1954A>G (p.Asn652Asp) single nucleotide variant not provided [RCV001342957] Chr19:18784324 [GRCh38]
Chr19:18895134 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.396C>G (p.Asn132Lys) single nucleotide variant not provided [RCV001364433] Chr19:18789292 [GRCh38]
Chr19:18900101 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.2228-3C>T single nucleotide variant not provided [RCV001315336] Chr19:18782964 [GRCh38]
Chr19:18893774 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1309G>T (p.Asp437Tyr) single nucleotide variant not provided [RCV001364544] Chr19:18786145 [GRCh38]
Chr19:18896955 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.1993C>T (p.Arg665Trp) single nucleotide variant not provided [RCV001337523] Chr19:18784285 [GRCh38]
Chr19:18895095 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.975+2T>G single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001334220] Chr19:18788210 [GRCh38]
Chr19:18899019 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1435G>C (p.Asp479His) single nucleotide variant not provided [RCV001367108] Chr19:18786019 [GRCh38]
Chr19:18896829 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.905A>G (p.Asp302Gly) single nucleotide variant not provided [RCV001327159] Chr19:18788282 [GRCh38]
Chr19:18899091 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.968A>G (p.Asn323Ser) single nucleotide variant Multiple epiphyseal dysplasia 1 [RCV001354542]|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001357397] Chr19:18788219 [GRCh38]
Chr19:18899028 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.2187G>A (p.Gln729=) single nucleotide variant not provided [RCV001308035] Chr19:18783094 [GRCh38]
Chr19:18893904 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.796T>C (p.Cys266Arg) single nucleotide variant not provided [RCV001365622] Chr19:18788481 [GRCh38]
Chr19:18899290 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.867+5G>A single nucleotide variant not provided [RCV001304107] Chr19:18788405 [GRCh38]
Chr19:18899214 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000095.3(COMP):c.279C>G (p.Pro93=) single nucleotide variant not provided [RCV001394303] Chr19:18790053 [GRCh38]
Chr19:18900862 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1526A>T (p.Asp509Val) single nucleotide variant not provided [RCV001388113] Chr19:18785815 [GRCh38]
Chr19:18896625 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1414G>C (p.Asp472His) single nucleotide variant not provided [RCV001388114] Chr19:18786040 [GRCh38]
Chr19:18896850 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.1318G>A (p.Gly440Arg) single nucleotide variant not provided [RCV001388115] Chr19:18786136 [GRCh38]
Chr19:18896946 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000095.3(COMP):c.795C>A (p.Leu265=) single nucleotide variant not provided [RCV001504342] Chr19:18788482 [GRCh38]
Chr19:18899291 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1317C>G (p.Asp439Glu) single nucleotide variant not provided [RCV001377132] Chr19:18786137 [GRCh38]
Chr19:18896947 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1988A>T (p.Gln663Leu) single nucleotide variant not provided [RCV001429888] Chr19:18784290 [GRCh38]
Chr19:18895100 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.2263C>T (p.Arg755Trp) single nucleotide variant not provided [RCV001401954] Chr19:18782926 [GRCh38]
Chr19:18893736 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1359C>G (p.Asn453Lys) single nucleotide variant not provided [RCV001377898] Chr19:18786095 [GRCh38]
Chr19:18896905 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1189G>C (p.Asp397His) single nucleotide variant not provided [RCV001379385] Chr19:18786597 [GRCh38]
Chr19:18897407 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.604-8C>G single nucleotide variant not provided [RCV001522045] Chr19:18788758 [GRCh38]
Chr19:18899567 [GRCh37]
Chr19:19p13.11
benign
NM_000095.3(COMP):c.1059C>T (p.Ser353=) single nucleotide variant not provided [RCV001469497] Chr19:18787567 [GRCh38]
Chr19:18898376 [GRCh37]
Chr19:19p13.11
likely benign
NM_000095.3(COMP):c.1190A>T (p.Asp397Val) single nucleotide variant not provided [RCV001378665] Chr19:18786596 [GRCh38]
Chr19:18897406 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1467C>A (p.Asn489Lys) single nucleotide variant not provided [RCV001378429] Chr19:18785987 [GRCh38]
Chr19:18896797 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1444G>A (p.Asp482Asn) single nucleotide variant not provided [RCV001379384] Chr19:18786010 [GRCh38]
Chr19:18896820 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.1127A>T (p.Asp376Val) single nucleotide variant not provided [RCV001379386] Chr19:18787499 [GRCh38]
Chr19:18898308 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000095.3(COMP):c.949G>A (p.Asp317Asn) single nucleotide variant not provided [RCV001379387] Chr19:18788238 [GRCh38]
Chr19:18899047 [GRCh37]
Chr19:19p13.11
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2227 AgrOrtholog
COSMIC COMP COSMIC
Ensembl Genes ENSG00000105664 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000222271 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403792 UniProtKB/Swiss-Prot
  ENSP00000439156 UniProtKB/TrEMBL
Ensembl Transcript ENST00000222271 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000425807 UniProtKB/Swiss-Prot
  ENST00000542601 UniProtKB/TrEMBL
Gene3D-CATH 4.10.1080.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105664 GTEx
HGNC ID HGNC:2227 ENTREZGENE
Human Proteome Map COMP Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thbs/COMP_coiled-coil UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thrombospondin_3-like_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thrombospondin_3_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thrombospondin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP-5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP-5_cc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP_type-3_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1311 UniProtKB/Swiss-Prot
NCBI Gene 1311 ENTREZGENE
OMIM 132400 OMIM
  177170 OMIM
  600310 OMIM
  619161 OMIM
PANTHER PTHR10199:SF88 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26744 PharmGKB
PROSITE EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103647 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt COMP_HUMAN UniProtKB/Swiss-Prot
  G3XAP6_HUMAN UniProtKB/TrEMBL
  L8E6U6_HUMAN UniProtKB/TrEMBL
  P49747 ENTREZGENE
UniProt Secondary B4DKJ3 UniProtKB/Swiss-Prot
  O14592 UniProtKB/Swiss-Prot
  Q16388 UniProtKB/Swiss-Prot
  Q16389 UniProtKB/Swiss-Prot
  Q2NL86 UniProtKB/Swiss-Prot
  Q8N4T2 UniProtKB/Swiss-Prot