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Gene: COMP (cartilage oligomeric matrix protein) Homo sapiens

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Symbol:

COMP

Name:

cartilage oligomeric matrix protein

RGD ID:

736605

HGNC Page

HGNC:2227

Description:

Enables several functions, including calcium ion binding activity; heparan sulfate proteoglycan binding activity; and heparin binding activity. Involved in several processes, including cartilage homeostasis; limb development; and protein homooligomerization. Located in extracellular matrix and extracellular region. Implicated in carpal tunnel syndrome 2; multiple epiphyseal dysplasia 1; osteochondrodysplasia; and pseudoachondroplasia.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously 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; multiple epiphyseal dysplasia; PSACH; pseudoachondroplasia (epiphyseal dysplasia 1, multiple); THBS5; thrombospondin-5; TSP-5; TSP5

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	18,782,773 - 18,791,305 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	18,782,773 - 18,791,305 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	18,893,583 - 18,902,114 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	18,754,583 - 18,763,114 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	18,754,583 - 18,763,114	NCBI
Celera	19	18,798,378 - 18,806,909 (-)	NCBI		Celera
Cytogenetic Map	19	p13.11	NCBI
HuRef	19	18,458,025 - 18,466,569 (-)	NCBI		HuRef
CHM1_1	19	18,893,587 - 18,902,107 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	18,918,369 - 18,926,902 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
COMP	Human	osteochondrodysplasia		IAGP		1600705	multiple epiphyseal dysplasia EDM1 more ...	RGD
COMP	Human	osteochondrodysplasia		IAGP		1600702	pseudoachondroplasia more ...	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
COMP	Human	carpal tunnel syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Carpal tunnel syndrome 2	ClinVar	PMID:12483304 more ...
COMP	Human	carpal tunnel syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Carpal tunnel syndrome 2	ClinVar	PMID:32686688
COMP	Human	carpal tunnel syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Carpal tunnel syndrome 2	ClinVar	PMID:25741868
COMP	Human	connective tissue disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Connective tissue disorder	ClinVar	PMID:25741868 and PMID:28492532
COMP	Human	connective tissue disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Connective tissue disorder	ClinVar	PMID:25741868
COMP	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:15756302 more ...
COMP	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
COMP	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
COMP	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
COMP	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:21922596 more ...
COMP	Human	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	ClinVar	PMID:28492532
COMP	Human	multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:25741868 more ...
COMP	Human	multiple epiphyseal dysplasia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar
COMP	Human	multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:21922596 more ...
COMP	Human	multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:12483304 more ...
COMP	Human	multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:12483304 more ...
COMP	Human	multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:11565064 more ...
COMP	Human	multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:25741868
COMP	Human	multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:12483304 more ...
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:25741868
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:25741868 and PMID:28492532
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:28492532
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:25741868 more ...
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:15756302 more ...
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:21922596 more ...
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:12483304 more ...
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:21922596 more ...
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:10405447 more ...
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:24595329 and PMID:28492532
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:15756302 more ...
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:12483304
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:15523498 more ...
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:11746044 more ...
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:11968079 more ...
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:12483304 more ...
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:21922596
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:12768438 more ...
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1	ClinVar	PMID:15756302 more ...
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Epiphyseal dysplasia more ...	ClinVar	PMID:7670472
COMP	Human	multiple epiphyseal dysplasia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Epiphyseal dysplasia more ...	ClinVar	PMID:9463320
COMP	Human	osteochondrodysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:25741868 more ...
COMP	Human	osteochondrodysplasia		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar
COMP	Human	osteochondrodysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:21922596 more ...
COMP	Human	osteochondrodysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:12483304 more ...
COMP	Human	osteochondrodysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:11565064 more ...
COMP	Human	osteochondrodysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:12483304 more ...
COMP	Human	osteochondrodysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:25741868
COMP	Human	osteochondrodysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:12483304 more ...
COMP	Human	progressive myoclonus epilepsy 8		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8	ClinVar	PMID:28492532
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:28492532
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:10405447 more ...
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:25741868
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:7670471
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:11746045 more ...
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:12768438 and PMID:25741868
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:15756302 more ...
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:21922596 more ...
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:24595329 more ...
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:28492532 and PMID:7670471
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:11746044 more ...
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:11565064 more ...
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:12768438 more ...
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:10405447 more ...
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:24595329 and PMID:28492532
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:12768438 more ...
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:11746044 more ...
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:25741868 and PMID:7670472
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:25741868 and PMID:26377240
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:25741868 and PMID:28492532
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:7670472
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:12483304
COMP	Human	pseudoachondroplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	ClinVar	PMID:9632164 and PMID:9921895

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
COMP	Human	Joint Instability		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:9887340
COMP	Human	multiple epiphyseal dysplasia 1		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:7670472 and PMID:9887340
COMP	Human	osteoarthritis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:7670472
COMP	Human	Osteoarthritis, Hip		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:28319091
COMP	Human	pseudoachondroplasia		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:7670471 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
COMP	Human	multiple epiphyseal dysplasia		ISS	Comp (Mus musculus)	13592920	OMIM:132400 more ...	MouseDO
COMP	Human	pseudoachondroplasia		ISS	Comp (Mus musculus)	13592920	OMIM:177170	MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
COMP	Human	carpal tunnel syndrome 2		IAGP		7240710		OMIM
COMP	Human	multiple epiphyseal dysplasia 1		IAGP		7240710		OMIM
COMP	Human	pseudoachondroplasia		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
COMP	Human	1,2-dimethylhydrazine	increases expression	ISO	Comp (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in increased expression of COMP mRNA	CTD	PMID:22206623
COMP	Human	1-naphthyl isothiocyanate	increases expression	ISO	Comp (Rattus norvegicus)	6480464	1-Naphthylisothiocyanate results in increased expression of COMP mRNA	CTD	PMID:30723492
COMP	Human	17alpha-ethynylestradiol	increases expression	ISO	Comp (Mus musculus)	6480464	Ethinyl Estradiol results in increased expression of COMP mRNA	CTD	PMID:17942748
COMP	Human	17alpha-ethynylestradiol	multiple interactions	ISO	Comp (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of COMP mRNA	CTD	PMID:17942748
COMP	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of COMP mRNA	CTD	PMID:20106945 and PMID:21632981
COMP	Human	2,2',5,5'-tetrachlorobiphenyl	increases expression	EXP		6480464	2 more ...	CTD	PMID:36804509
COMP	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Comp (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of COMP mRNA	CTD	PMID:17942748
COMP	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	EXP		6480464	Tetrachlorodibenzodioxin affects the expression of COMP mRNA	CTD	PMID:36370075
COMP	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Comp (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of COMP mRNA	CTD	PMID:32109520
COMP	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	EXP		6480464	Tetrachlorodibenzodioxin results in increased expression of COMP mRNA	CTD	PMID:20106945 more ...
COMP	Human	2,3,7,8-Tetrachlorodibenzofuran	decreases expression	ISO	Comp (Rattus norvegicus)	6480464	2 more ...	CTD	PMID:32109520
COMP	Human	2,4,6-tribromophenol	increases expression	EXP		6480464	2 more ...	CTD	PMID:31675489
COMP	Human	2,4-dibromophenyl 2,4,5-tribromophenyl ether	affects expression	ISO	Comp (Mus musculus)	6480464	2 more ...	CTD	PMID:38648751
COMP	Human	3,3',5,5'-tetrabromobisphenol A	increases expression	ISO	Comp (Rattus norvegicus)	6480464	tetrabromobisphenol A results in increased expression of COMP mRNA	CTD	PMID:27914987
COMP	Human	3,3',5,5'-tetrabromobisphenol A	increases expression	EXP		6480464	tetrabromobisphenol A results in increased expression of COMP protein	CTD	PMID:31675489
COMP	Human	4,4'-diaminodiphenylmethane	increases expression	ISO	Comp (Mus musculus)	6480464	4 and 4'-diaminodiphenylmethane results in increased expression of COMP mRNA	CTD	PMID:18648102
COMP	Human	4,4'-sulfonyldiphenol	affects methylation	ISO	Comp (Mus musculus)	6480464	bisphenol S affects the methylation of COMP gene	CTD	PMID:31683443
COMP	Human	6-propyl-2-thiouracil	decreases expression	ISO	Comp (Rattus norvegicus)	6480464	Propylthiouracil results in decreased expression of COMP mRNA	CTD	PMID:24780913
COMP	Human	acrylamide	decreases expression	ISO	Comp (Rattus norvegicus)	6480464	Acrylamide results in decreased expression of COMP mRNA	CTD	PMID:28959563
COMP	Human	all-trans-retinoic acid	multiple interactions	ISO	Comp (Mus musculus)	6480464	[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in decreased expression of COMP mRNA	CTD	PMID:36189433
COMP	Human	all-trans-retinoic acid	decreases expression	ISO	Comp (Mus musculus)	6480464	Tretinoin results in decreased expression of COMP mRNA	CTD	PMID:36189433
COMP	Human	aluminium oxide	increases expression	EXP		6480464	Aluminum Oxide results in increased expression of COMP mRNA	CTD	PMID:19464052
COMP	Human	arsenous acid	decreases expression	ISO	Comp (Mus musculus)	6480464	Arsenic Trioxide results in decreased expression of COMP mRNA	CTD	PMID:35676786
COMP	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of COMP mRNA	CTD	PMID:20106945 and PMID:22316170
COMP	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of COMP promoter	CTD	PMID:27901495
COMP	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of COMP exon	CTD	PMID:27901495
COMP	Human	bis(2-ethylhexyl) phthalate	decreases expression	EXP		6480464	Diethylhexyl Phthalate results in decreased expression of COMP mRNA	CTD	PMID:31163220
COMP	Human	bisphenol A	decreases expression	ISO	Comp (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of COMP mRNA	CTD	PMID:25181051 more ...
COMP	Human	bleomycin A2	multiple interactions	ISO	Comp (Mus musculus)	6480464	[S1PR5 protein affects the susceptibility to Bleomycin] which affects the expression of COMP protein	CTD	PMID:29033951
COMP	Human	butanal	increases expression	EXP		6480464	butyraldehyde results in increased expression of COMP mRNA	CTD	PMID:26079696
COMP	Human	cadmium dichloride	decreases expression	EXP		6480464	Cadmium Chloride results in decreased expression of COMP mRNA	CTD	PMID:38382870
COMP	Human	calcitriol	decreases expression	EXP		6480464	Calcitriol results in decreased expression of COMP mRNA	CTD	PMID:26485663
COMP	Human	chlorpyrifos	increases expression	ISO	Comp (Mus musculus)	6480464	Chlorpyrifos results in increased expression of COMP mRNA	CTD	PMID:32715474
COMP	Human	corosolic acid	increases expression	EXP		6480464	corosolic acid results in increased expression of COMP mRNA	CTD	PMID:37939859
COMP	Human	crocidolite asbestos	increases expression	EXP		6480464	Asbestos and Crocidolite results in increased expression of COMP protein	CTD	PMID:29553831
COMP	Human	Cuprizon	increases expression	ISO	Comp (Rattus norvegicus)	6480464	Cuprizone results in increased expression of COMP mRNA	CTD	PMID:26577399
COMP	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of COMP mRNA	CTD	PMID:25562108
COMP	Human	diarsenic trioxide	decreases expression	ISO	Comp (Mus musculus)	6480464	Arsenic Trioxide results in decreased expression of COMP mRNA	CTD	PMID:35676786
COMP	Human	diethyl malate	affects expression	ISO	Comp (Mus musculus)	6480464	diethyl malate affects the expression of COMP mRNA	CTD	PMID:24814887
COMP	Human	dimethylarsinic acid	increases expression	ISO	Comp (Rattus norvegicus)	6480464	Cacodylic Acid results in increased expression of COMP mRNA	CTD	PMID:16122865
COMP	Human	endosulfan	increases expression	ISO	Comp (Rattus norvegicus)	6480464	Endosulfan results in increased expression of COMP mRNA	CTD	PMID:29391264
COMP	Human	furan	increases expression	ISO	Comp (Rattus norvegicus)	6480464	furan results in increased expression of COMP mRNA	CTD	PMID:25539665 and PMID:26194646
COMP	Human	gentamycin	increases expression	ISO	Comp (Rattus norvegicus)	6480464	Gentamicins results in increased expression of COMP mRNA	CTD	PMID:33387578
COMP	Human	HT-2 toxin	decreases expression	EXP		6480464	HT-2 toxin results in decreased expression of COMP mRNA	CTD	PMID:38734200
COMP	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of COMP protein	CTD	PMID:32959892
COMP	Human	microcystin-LR	decreases expression	ISO	Comp (Mus musculus)	6480464	cyanoginosin LR results in decreased expression of COMP mRNA	CTD	PMID:37342990
COMP	Human	mifepristone	decreases expression	ISO	Comp (Rattus norvegicus)	6480464	Mifepristone results in decreased expression of COMP mRNA	CTD	PMID:25972201
COMP	Human	mono(2-ethylhexyl) phthalate	multiple interactions	ISO	Comp (Mus musculus)	6480464	[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in decreased expression of COMP mRNA	CTD	PMID:36189433
COMP	Human	mono(2-ethylhexyl) phthalate	decreases expression	ISO	Comp (Mus musculus)	6480464	mono-(2-ethylhexyl)phthalate results in decreased expression of COMP mRNA	CTD	PMID:36189433
COMP	Human	monosodium L-glutamate	multiple interactions	ISO	Comp (Mus musculus)	6480464	[Trans Fatty Acids co-treated with Sodium Glutamate] results in increased expression of COMP mRNA	CTD	PMID:22078008
COMP	Human	monosodium L-glutamate	decreases expression	ISO	Comp (Mus musculus)	6480464	Sodium Glutamate results in decreased expression of COMP mRNA	CTD	PMID:22078008
COMP	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of COMP mRNA	CTD	PMID:22230336
COMP	Human	paracetamol	increases expression	ISO	Comp (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of COMP mRNA	CTD	PMID:33387578
COMP	Human	thioacetamide	increases expression	ISO	Comp (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of COMP mRNA	CTD	PMID:34492290
COMP	Human	titanium dioxide	increases expression	ISO	Comp (Mus musculus)	6480464	titanium dioxide results in increased expression of COMP mRNA	CTD	PMID:23131501
COMP	Human	titanium dioxide	increases methylation	ISO	Comp (Mus musculus)	6480464	titanium dioxide results in increased methylation of COMP promoter	CTD	PMID:35295148
COMP	Human	titanium dioxide	decreases methylation	ISO	Comp (Mus musculus)	6480464	titanium dioxide results in decreased methylation of COMP gene	CTD	PMID:35295148
COMP	Human	triptonide	increases expression	ISO	Comp (Mus musculus)	6480464	triptonide results in increased expression of COMP mRNA	CTD	PMID:33045310
COMP	Human	urethane	increases expression	EXP		6480464	Urethane results in increased expression of COMP mRNA	CTD	PMID:28818685
COMP	Human	valproic acid	affects expression	ISO	Comp (Mus musculus)	6480464	Valproic Acid affects the expression of COMP mRNA	CTD	PMID:17963808
COMP	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of COMP mRNA	CTD	PMID:23179753 more ...
COMP	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of COMP mRNA	CTD	PMID:25979313
COMP	Human	zinc atom	increases expression	EXP		6480464	Zinc deficiency results in increased expression of COMP mRNA	CTD	PMID:12888634
COMP	Human	zinc(0)	increases expression	EXP		6480464	Zinc deficiency results in increased expression of COMP mRNA	CTD	PMID:12888634
COMP	Human	zoledronic acid	increases expression	EXP		6480464	zoledronic acid results in increased expression of COMP protein	CTD	PMID:28871336

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
COMP	Human	animal organ morphogenesis	involved_in	TAS		150520179	PMID:7713493	PINC	PMID:7713493
COMP	Human	apoptotic process	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	apoptotic process	involved_in	IEA	UniProtKB-KW:KW-0053	150520179		UniProt	GO_REF:0000043
COMP	Human	artery morphogenesis	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	blood coagulation	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	BMP signaling pathway	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	bone growth	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	bone mineralization	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	bone morphogenesis	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	cartilage development	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	cartilage homeostasis	involved_in	IDA		150520179	PMID:32747625	UniProt	PMID:32747625
COMP	Human	cartilage homeostasis	involved_in	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	cell adhesion	involved_in	IEA	UniProtKB-KW:KW-0130	150520179		UniProt	GO_REF:0000043
COMP	Human	cell adhesion	involved_in	IEA	InterPro:IPR003367 and InterPro:IPR008859	150520179		InterPro	GO_REF:0000002
COMP	Human	cellular senescence	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	chondrocyte development	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	chondrocyte proliferation	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	collagen fibril organization	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	endochondral bone growth	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	growth plate cartilage development	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	limb development	involved_in	IDA		150520179	PMID:16542502	UniProt	PMID:16542502
COMP	Human	limb development	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	multicellular organism growth	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	muscle cell development	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	musculoskeletal movement	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	negative regulation of apoptotic process	involved_in	IDA		150520179	PMID:17993464	UniProt	PMID:17993464
COMP	Human	negative regulation of hemostasis	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	neuromuscular process	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	ossification	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	platelet aggregation	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	positive regulation of chondrocyte proliferation	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	protein homooligomerization	involved_in	IDA		150520179	PMID:32747625	UniProt	PMID:32747625
COMP	Human	protein homooligomerization	involved_in	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	protein processing	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	protein secretion	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	regulation of bone mineralization	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	regulation of gene expression	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	response to unfolded protein	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	skeletal system development	involved_in	TAS		150520179	PMID:7670472	PINC	PMID:7670472
COMP	Human	skeletal system development	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	skin development	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	tendon development	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	vascular associated smooth muscle cell development	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	vascular associated smooth muscle contraction	acts_upstream_of_or_within	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
COMP	Human	collagen-containing extracellular matrix		ISO	Comp (Rattus norvegicus)	9068941		RGD	PMID:16778685 and REF_RGD_ID:1600712
COMP	Human	collagen-containing extracellular matrix	is_active_in	IBA	FB:FBgn0031850 more ...	150520179		GO_Central	GO_REF:0000033
COMP	Human	collagen-containing extracellular matrix	located_in	HDA		150520179	PMID:20551380	BHF-UCL	PMID:20551380
COMP	Human	extracellular exosome	located_in	HDA		150520179	PMID:23533145	UniProt	PMID:23533145
COMP	Human	extracellular matrix	located_in	IDA		150520179	PMID:18285447	UniProt	PMID:18285447
COMP	Human	extracellular matrix	located_in	TAS		150520179	PMID:7713493	PINC	PMID:7713493
COMP	Human	extracellular region	located_in	IEA	InterPro:IPR008859	150520179		InterPro	GO_REF:0000002
COMP	Human	extracellular region	located_in	IEA	UniProtKB-KW:KW-0964	150520179		UniProt	GO_REF:0000043
COMP	Human	extracellular region	located_in	TAS		150520179		Reactome	Reactome:R-HSA-2424252 and Reactome:R-HSA-2426259
COMP	Human	extracellular region	located_in	IDA		150520179	PMID:32747625	UniProt	PMID:32747625
COMP	Human	extracellular region	located_in	HDA		150520179	PMID:27068509	BHF-UCL	PMID:27068509
COMP	Human	extracellular region	located_in	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	extracellular space	located_in	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	extracellular space	located_in	HDA		150520179	PMID:20551380	BHF-UCL	PMID:20551380
COMP	Human	protein-containing complex	part_of	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
COMP	Human	BMP binding	enables	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	calcium ion binding	enables	IEA	InterPro:IPR001881 more ...	150520179		InterPro	GO_REF:0000002
COMP	Human	calcium ion binding	enables	IEA	UniRule:UR000413704	150520179		UniProt	GO_REF:0000104
COMP	Human	calcium ion binding	enables	TAS		150520179	PMID:7670472	PINC	PMID:7670472
COMP	Human	calcium ion binding	enables	IDA		150520179	PMID:10852928 and PMID:11084047	UniProt	PMID:10852928 and PMID:11084047
COMP	Human	collagen binding	enables	IDA		150520179	PMID:11084047	UniProt	PMID:11084047
COMP	Human	extracellular matrix structural constituent	enables	TAS		150520179	PMID:7713493	PINC	PMID:7713493
COMP	Human	extracellular matrix structural constituent	enables	RCA		150520179	PMID:20551380	BHF-UCL	PMID:20551380
COMP	Human	extracellular matrix structural constituent		ISO	Comp (Rattus norvegicus)	9068941		RGD	PMID:12225811 and REF_RGD_ID:1298778
COMP	Human	fibronectin binding		ISO	Comp (Rattus norvegicus)	9068941		RGD	PMID:12225811 and REF_RGD_ID:1298778
COMP	Human	heparan sulfate proteoglycan binding	enables	IDA		150520179	PMID:17588949	UniProt	PMID:17588949
COMP	Human	heparin binding	enables	IDA		150520179	PMID:17588949	UniProt	PMID:17588949
COMP	Human	heparin binding	enables	IEA	ARBA:ARBA00027326	150520179		UniProt	GO_REF:0000117
COMP	Human	heparin binding	enables	IEA	UniProtKB-KW:KW-0358	150520179		UniProt	GO_REF:0000043
COMP	Human	integrin binding	enables	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	protease binding	enables	IEA	UniProtKB:Q9R0G6 and ensembl:ENSMUSP00000003659	150520179		Ensembl	GO_REF:0000107
COMP	Human	protease binding	enables	IPI	UniProtKB:P58397 and UniProtKB:Q9UKP4	150520179	PMID:18485748	BHF-UCL	PMID:18485748
COMP	Human	protein binding	enables	IPI	UniProtKB:P05106 and UniProtKB:P08648	150520179	PMID:16051604	UniProt	PMID:16051604
COMP	Human	protein binding	enables	IPI	UniProtKB:P32242	150520179	PMID:25416956 and PMID:31515488	IntAct	PMID:25416956 and PMID:31515488
COMP	Human	protein binding	enables	IPI	UniProtKB:P02751	150520179	PMID:12225811	UniProt	PMID:12225811
COMP	Human	protein binding	enables	IPI	UniProtKB:O15232 more ...	150520179	PMID:15075323	UniProt	PMID:15075323
COMP	Human	protein binding	enables	IPI	UniProtKB:P16112	150520179	PMID:17588949	UniProt	PMID:17588949
COMP	Human	protein binding	enables	IPI	UniProtKB:P58397	150520179	PMID:16611630 and PMID:18485748	IntAct	PMID:16611630 and PMID:18485748
COMP	Human	protein binding	enables	IPI	UniProtKB:P13608	150520179	PMID:17588949	IntAct	PMID:17588949
COMP	Human	protein binding	enables	IPI	UniProtKB:A8MQ03 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
COMP	Human	proteoglycan binding	enables	IDA		150520179	PMID:29030641	MGI	PMID:29030641
COMP	Human	vitamin D binding		ISO	Comp (Rattus norvegicus)	9068941		RGD	PMID:12426368 and REF_RGD_ID:1298777

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
COMP	Human	cell-extracellular matrix signaling pathway		IEA		6907045		KEGG	hsa:04512
COMP	Human	malaria pathway		IEA		6907045		KEGG	hsa:05144
COMP	Human	transforming growth factor-beta superfamily mediated signaling pathway		IEA		6907045		KEGG	hsa:04350

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
COMP	Human	Abnormal acetabulum morphology		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Abnormal femoral epiphysis morphology		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Abnormal form of the vertebral bodies		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Abnormal ossification involving the femoral head and neck		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Acetabular dysplasia		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Ankle pain		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Ankle pain		IAGP		8699517		HPO	MIM:132400 and PMID:7670472
COMP	Human	Arthralgia		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Arthralgia		IAGP		8699517		HPO	MIM:177170 and PMID:20301660
COMP	Human	Arthralgia of the hip		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Atlantoaxial dislocation		IAGP		8699517		HPO	MIM:177170
COMP	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:177170
COMP	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:619161 and PMID:32686688
COMP	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:132400 and PMID:7670472
COMP	Human	Avascular necrosis of the capital femoral epiphysis		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Avascular necrosis of the capital femoral epiphysis		IAGP		8699517		HPO	MIM:132400
COMP	Human	Beaking of vertebral bodies		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Beaking of vertebral bodies		IAGP		8699517		HPO	MIM:177170 and PMID:27432013
COMP	Human	Brachydactyly		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Brachydactyly		IAGP		8699517		HPO	MIM:177170 and PMID:27432013
COMP	Human	Brachydactyly		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Broad femoral neck		IAGP		8699517		HPO	MIM:132400
COMP	Human	Carpal bone hypoplasia		IAGP		8699517		HPO	MIM:177170 and PMID:20301660
COMP	Human	Cervical cord compression		IAGP		8699517		HPO	MIM:177170
COMP	Human	Cervical spine instability		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Childhood onset short-limb short stature		IAGP		8699517		HPO	MIM:177170
COMP	Human	Cone-shaped epiphysis		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Constrictive median neuropathy		IAGP		8699517		HPO	MIM:619161 and PMID:32686688
COMP	Human	Coxa vara		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Delayed epiphyseal ossification		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Delayed epiphyseal ossification		IAGP		8699517		HPO	MIM:132400 and PMID:7670472
COMP	Human	Delayed epiphyseal ossification		IAGP		8699517		HPO	MIM:177170 and PMID:20301660
COMP	Human	Delayed epiphyseal ossification		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Disproportionate short stature		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Disproportionate short-limb short stature		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Disproportionate short-limb short stature		IAGP		8699517		HPO	MIM:177170 and PMID:20301660
COMP	Human	Disproportionate short-limb short stature		IAGP		8699517		HPO	MIM:132400
COMP	Human	Distal joint hypermobility		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Epiphyseal dysplasia		IAGP		8699517		HPO	MIM:132400 and PMID:7670472
COMP	Human	Finger joint hypermobility		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Flared femoral metaphysis		IAGP		8699517		HPO	MIM:177170 and PMID:21599986
COMP	Human	Flared metaphysis		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Flat acetabular roof		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Fragmented epiphyses		IAGP		8699517		HPO	MIM:177170
COMP	Human	Fragmented, irregular epiphyses		IAGP		8699517		HPO	MIM:177170
COMP	Human	Gait disturbance		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Generalized joint hypermobility		IAGP		8699517		HPO	MIM:132400
COMP	Human	Generalized joint hypermobility		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Genu recurvatum		IAGP		8699517		HPO	MIM:177170
COMP	Human	Genu valgum		IAGP		8699517		HPO	MIM:132400
COMP	Human	Genu valgum		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Genu valgum		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Genu valgum		IAGP		8699517		HPO	MIM:177170
COMP	Human	Genu varum		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Genu varum		IAGP		8699517		HPO	MIM:177170 and PMID:27432013
COMP	Human	Genu varum		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Hand pain		IAGP		8699517		HPO	MIM:619161 and PMID:32686688
COMP	Human	Hand paresthesia		IAGP		8699517		HPO	MIM:619161 and PMID:32686688
COMP	Human	Hip dysplasia		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Hip osteoarthritis		IAGP		8699517		HPO	MIM:132400
COMP	Human	Hypoplasia of the capital femoral epiphysis		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Hypoplasia of the odontoid process		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Hypoplasia of the odontoid process		IAGP		8699517		HPO	MIM:177170
COMP	Human	Hypoplastic pelvis		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Increased laxity of ankles		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Increased laxity of fingers		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Intellectual disability		IAGP		8699517		HPO	MIM:177170 and PMID:27432013
COMP	Human	Irregular acetabular roof		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Irregular carpal bones		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Irregular carpal bones		IAGP		8699517		HPO	MIM:177170 and PMID:20301660
COMP	Human	Irregular epiphyses		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Irregular epiphyses		IAGP		8699517		HPO	MIM:132400 and PMID:7670472
COMP	Human	Irregular epiphyses		IAGP		8699517		HPO	MIM:177170 and PMID:27432013
COMP	Human	Irregular vertebral endplates		IAGP		8699517		HPO	MIM:132400
COMP	Human	Joint hypermobility		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Joint hypermobility		IAGP		8699517		HPO	MIM:177170 and PMID:20301660
COMP	Human	Joint stiffness		IAGP		8699517		HPO	MIM:132400
COMP	Human	Joint stiffness		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Joint stiffness		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Knee joint hypermobility		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Knee joint hypermobility		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Knee pain		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Kyphosis		IAGP		8699517		HPO	MIM:177170
COMP	Human	Limb undergrowth		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Limitation of joint mobility		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Limited elbow extension		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Limited elbow extension		IAGP		8699517		HPO	MIM:177170 and PMID:27432013
COMP	Human	Limited hip extension		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Limited hip extension		IAGP		8699517		HPO	MIM:177170 and PMID:20301660
COMP	Human	Limited hip movement		IAGP		8699517		HPO	MIM:132400 and PMID:7670472
COMP	Human	Limited shoulder movement		IAGP		8699517		HPO	MIM:177170 and PMID:27432013
COMP	Human	Lumbar hyperlordosis		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Lumbar hyperlordosis		IAGP		8699517		HPO	MIM:177170 and PMID:20301660
COMP	Human	Metaphyseal irregularity		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Metaphyseal irregularity		IAGP		8699517		HPO	MIM:177170 and PMID:27432013
COMP	Human	Metaphyseal widening		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Metaphyseal widening		IAGP		8699517		HPO	MIM:177170
COMP	Human	Mild short stature		IAGP		8699517		HPO	MIM:132400 and PMID:7670472
COMP	Human	Osteoarthritis		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Osteoarthritis		IAGP		8699517		HPO	MIM:177170 more ...
COMP	Human	Osteoarthritis		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Ovoid vertebral bodies		IAGP		8699517		HPO	MIM:132400
COMP	Human	Pes planus		IAGP		8699517		HPO	MIM:132400 and PMID:7670472
COMP	Human	Platyspondyly		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Platyspondyly		IAGP		8699517		HPO	MIM:177170 and PMID:27432013
COMP	Human	Positive carpal Tinel sign		IAGP		8699517		HPO	MIM:619161 and PMID:32686688
COMP	Human	Positive Phalen test		IAGP		8699517		HPO	MIM:619161 and PMID:32686688
COMP	Human	Postexertional symptom exacerbation		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Radial metaphyseal irregularity		IAGP		8699517		HPO	MIM:177170 and PMID:21599986
COMP	Human	Scoliosis		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Scoliosis		IAGP		8699517		HPO	MIM:177170 and PMID:27432013
COMP	Human	Sensory neuropathy		IAGP		8699517		HPO	MIM:177170
COMP	Human	Severe short stature		IAGP		8699517		HPO	MIM:132400
COMP	Human	Short distal phalanx of finger		IAGP		8699517		HPO	MIM:177170
COMP	Human	Short femoral neck		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Short femoral neck		IAGP		8699517		HPO	MIM:132400
COMP	Human	Short long bone		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Short long bone		IAGP		8699517		HPO	MIM:177170
COMP	Human	Short long bone		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Short metacarpal		IAGP		8699517		HPO	MIM:132400
COMP	Human	Short metacarpal		IAGP		8699517		HPO	MIM:177170 and PMID:20301660
COMP	Human	Short phalanx of finger		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Short phalanx of finger		IAGP		8699517		HPO	MIM:132400
COMP	Human	Short phalanx of finger		IAGP		8699517		HPO	MIM:177170
COMP	Human	Shortening of all metacarpals		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Skeletal myopathy		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Small epiphyses		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Small epiphyses		IAGP		8699517		HPO	MIM:132400
COMP	Human	Small epiphyses		IAGP		8699517		HPO	MIM:177170
COMP	Human	Small epiphyses of the phalanges of the hand		IAGP		8699517		HPO	MIM:177170
COMP	Human	Spatulate ribs		IAGP		8699517		HPO	MIM:177170
COMP	Human	Thenar muscle atrophy		IAGP		8699517		HPO	MIM:619161 and PMID:32686688
COMP	Human	Ulnar deviation of the hand		IAGP		8699517		HPO	MIM:177170
COMP	Human	Ulnar deviation of the wrist		IAGP		8699517		HPO	MIM:177170
COMP	Human	Ulnar metaphyseal irregularity		IAGP		8699517		HPO	MIM:177170 and PMID:21599986
COMP	Human	Waddling gait		IAGP		8699517		HPO	ORPHA:93308
COMP	Human	Waddling gait		IAGP		8699517		HPO	MIM:177170 and PMID:20301660
COMP	Human	Waddling gait		IAGP		8699517		HPO	ORPHA:750
COMP	Human	Waddling gait		IAGP		8699517		HPO	MIM:132400
COMP	Human	Wind-swept deformity of the knees		IAGP		8699517		HPO	ORPHA:750

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
COMP	Human	Abnormality of the skeletal system		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Abnormality of the skeletal system	ClinVar	PMID:25741868
COMP	Human	Multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar
COMP	Human	Multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:21922596 more ...
COMP	Human	Multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:12483304 more ...
COMP	Human	Multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:11565064 more ...
COMP	Human	Multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:12483304 more ...
COMP	Human	Multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:25741868
COMP	Human	Multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:25741868 more ...
COMP	Human	Multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar
COMP	Human	Multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar
COMP	Human	Multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar
COMP	Human	Multiple epiphyseal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	ClinVar	PMID:12483304 more ...

#	Reference Title	Reference Citation
1.	Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.	Briggs MD, etal., Nat Genet. 1995 Jul;10(3):330-6.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.	Hecht JT, etal., Nat Genet. 1995 Jul;10(3):325-9.
4.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
5.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
6.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
8.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

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:18285447	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:32747625	PMID:32748631	PMID:32754278	PMID:33030144	PMID:33068727	PMID:33438071
PMID:33472398	PMID:33595934	PMID:33748277	PMID:33910854	PMID:33961781	PMID:34117950	PMID:34404836	PMID:34680093	PMID:34686725	PMID:34709441	PMID:34732716	PMID:35088463
PMID:35468843	PMID:35990519	PMID:36012514	PMID:36551305	PMID:36671447	PMID:37207219	PMID:37461830	PMID:37556859	PMID:37838792	PMID:38113892	PMID:38479555	PMID:38528617

COMP
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	18,782,773 - 18,791,305 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	18,782,773 - 18,791,305 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	18,893,583 - 18,902,114 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	18,754,583 - 18,763,114 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	18,754,583 - 18,763,114	NCBI
Celera	19	18,798,378 - 18,806,909 (-)	NCBI		Celera
Cytogenetic Map	19	p13.11	NCBI
HuRef	19	18,458,025 - 18,466,569 (-)	NCBI		HuRef
CHM1_1	19	18,893,587 - 18,902,107 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	18,918,369 - 18,926,902 (-)	NCBI		T2T-CHM13v2.0

Comp
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	70,826,186 - 70,834,721 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	70,826,208 - 70,834,716 (+)	Ensembl		GRCm39 Ensembl
GRCm38	8	70,373,548 - 70,382,066 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	70,373,558 - 70,382,066 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	72,897,447 - 72,905,965 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	73,302,547 - 73,311,055 (+)	NCBI		MGSCv36	mm8
Celera	8	72,929,973 - 72,938,489 (+)	NCBI		Celera
Cytogenetic Map	8	B3.3	NCBI
cM Map	8	34.15	NCBI

Comp
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	16	19,081,172 - 19,089,548 (-)	NCBI		GRCr8
mRatBN7.2	16	19,047,206 - 19,055,584 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	16	19,047,207 - 19,055,845 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	16	19,086,958 - 19,095,161 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	16	20,219,417 - 20,227,820 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	16	19,139,921 - 19,148,124 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	16	20,798,437 - 20,807,070 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	20,798,437 - 20,807,070 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	20,647,382 - 20,657,932 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	16	19,237,609 - 19,245,998 (-)	NCBI		Celera
Cytogenetic Map	16	p14	NCBI

COMP
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	20	23,643,332 - 23,652,510 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	22,651,519 - 22,661,150 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	18,222,270 - 18,230,936 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	19,229,420 - 19,238,053 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	19,229,562 - 19,238,008 (-)	Ensembl	panpan1.1		panPan2

COMP
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	44,306,813 - 44,314,575 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	44,306,859 - 44,314,625 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	44,221,457 - 44,229,145 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	44,793,007 - 44,800,779 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	44,793,063 - 44,800,711 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	44,030,270 - 44,038,042 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	44,440,677 - 44,448,355 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	44,715,955 - 44,723,648 (+)	NCBI		UU_Cfam_GSD_1.0

Comp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	202,995,236 - 203,002,126 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936596	2,544,389 - 2,551,164 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936596	2,544,389 - 2,551,155 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

COMP
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	59,061,426 - 59,069,564 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	59,061,409 - 59,068,951 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	58,815,756 - 58,823,293 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

COMP
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	6	17,246,617 - 17,255,561 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	17,246,762 - 17,255,126 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666074	2,070,833 - 2,079,420 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Comp
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624908	1,871,002 - 1,877,369 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624908	1,870,975 - 1,877,434 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in COMP
664 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
COMP, 3-BP DEL, 1139GAC	deletion	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000029149]	Chr19:19p13.1	pathogenic
NM_000095.3(COMP):c.1375_1377del (p.Ser459del)	deletion	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009763]	Chr19:18786077..18786079 [GRCh38] Chr19:18896887..18896889 [GRCh37] Chr19:19p13.11	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	COMP-related disorder [RCV004730840]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009770]	Chr19:18786034..18786035 [GRCh38] Chr19:18896844..18896845 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic
NM_000095.3(COMP):c.917_976-68del	deletion	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009774]	Chr19:18787718..18788270 [GRCh38] Chr19:18898527..18899079 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.2223dup (p.Asn742fs)	duplication	Multiple epiphyseal dysplasia type 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	Multiple epiphyseal dysplasia type 1 [RCV004796224]\|not provided [RCV000521517]	Chr19:18786591 [GRCh38] Chr19:18897401 [GRCh37] Chr19:19p13.11	likely pathogenic\|uncertain significance
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]\|not provided [RCV002512949]\|not specified [RCV002247283]	Chr19:18786051 [GRCh38] Chr19:18896861 [GRCh37] Chr19:19p13.11	pathogenic\|uncertain significance
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 [RCV002054430]\|Multiple epiphyseal dysplasia type 1 [RCV000009767]\|not provided [RCV001851774]	Chr19:18785772 [GRCh38] Chr19:18896582 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic\|not provided
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_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	microsatellite	Multiple epiphyseal dysplasia [RCV002054431]\|Multiple epiphyseal dysplasia type 1 [RCV000009771]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033881]\|not provided [RCV001090556]	Chr19:18786034..18786035 [GRCh38] Chr19:18896844..18896845 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic\|not provided
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV003989283]\|Pseudoachondroplasia, severe [RCV000009772]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033890]\|not provided [RCV002223755]	Chr19:18783125 [GRCh38] Chr19:18893935 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic\|not provided
NM_000095.3(COMP):c.1042T>C (p.Cys348Arg)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000009773]\|not provided [RCV003555993]	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 [RCV002054432]\|Multiple epiphyseal dysplasia type 1 [RCV000009776]\|not provided [RCV001268837]	Chr19:18783129 [GRCh38] Chr19:18893939 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic\|not provided
NM_000095.3(COMP):c.1156A>G (p.Asn386Asp)	single nucleotide variant	Connective tissue disorder [RCV002277115]\|Multiple epiphyseal dysplasia type 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 type 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\|not provided
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\|not provided
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\|not provided
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)	single nucleotide variant	Multiple epiphyseal dysplasia [RCV002054552]\|Multiple epiphyseal dysplasia type 1 [RCV002496507]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033886]	Chr19:18785056 [GRCh38] Chr19:18895866 [GRCh37] Chr19:19p13.11	pathogenic\|not provided
NM_000095.3(COMP):c.1754C>T (p.Thr585Met)	single nucleotide variant	COMP-related disorder [RCV004754281]\|Multiple epiphyseal dysplasia [RCV002054553]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000033887]\|not provided [RCV001388112]	Chr19:18785056 [GRCh38] Chr19:18895866 [GRCh37] Chr19:19p13.11	pathogenic\|not provided
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\|not provided
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\|likely pathogenic\|not provided
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 [RCV002054893]	Chr19:18786628..18786630 [GRCh38] Chr19:18897438..18897440 [GRCh37] Chr19:19p13.11	pathogenic\|not provided
NM_000095.3(COMP):c.1665C>A (p.Asn555Lys)	single nucleotide variant	Multiple epiphyseal dysplasia [RCV002054894]	Chr19:18785676 [GRCh38] Chr19:18896486 [GRCh37] Chr19:19p13.11	pathogenic\|not provided
NM_000095.3(COMP):c.1813G>A (p.Asp605Asn)	single nucleotide variant	Multiple epiphyseal dysplasia [RCV002054895]	Chr19:18784997 [GRCh38] Chr19:18895807 [GRCh37] Chr19:19p13.11	pathogenic\|not provided
NM_000095.3(COMP):c.2042C>G (p.Ser681Cys)	single nucleotide variant	Multiple epiphyseal dysplasia [RCV002054896]	Chr19:18784236 [GRCh38] Chr19:18895046 [GRCh37] Chr19:19p13.11	pathogenic\|not provided
NM_000095.3(COMP):c.2153G>C (p.Arg718Pro)	single nucleotide variant	Multiple epiphyseal dysplasia [RCV002054897]\|not provided [RCV002513728]	Chr19:18783128 [GRCh38] Chr19:18893938 [GRCh37] Chr19:19p13.11	pathogenic\|not provided
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\|likely benign
NM_000095.3(COMP):c.511G>A (p.Ala171Thr)	single nucleotide variant	Connective tissue disorder [RCV002277410]\|Multiple epiphyseal dysplasia type 1 [RCV000354091]\|Multiple epiphyseal dysplasia type 1 [RCV002485172]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000259246]\|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]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV004556063]	Chr19:18784981 [GRCh38] Chr19:18895791 [GRCh37] Chr19:19p13.11	likely pathogenic\|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 provided [RCV001682953]\|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 type 1 [RCV000266934]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000322017]\|not provided [RCV001610552]\|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 type 1 [RCV000397614]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000306627]\|not provided [RCV002055024]\|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 provided [RCV001640462]\|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 type 1 [RCV000395471]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000283361]\|not provided [RCV001589229]\|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 type 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 provided [RCV004717101]\|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 type 1 [RCV000308597]\|Multiple epiphyseal dysplasia type 1 [RCV002494695]\|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 type 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 type 1 [RCV000272336]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000366967]\|not provided [RCV002523056]	Chr19:18790928 [GRCh38] Chr19:18901737 [GRCh37] Chr19:19p13.11	benign\|uncertain significance
NM_000095.3(COMP):c.410T>C (p.Phe137Ser)	single nucleotide variant	Connective tissue disorder [RCV002278507]\|Multiple epiphyseal dysplasia type 1 [RCV000330560]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000275499]\|not provided [RCV001435909]	Chr19:18789278 [GRCh38] Chr19:18900087 [GRCh37] Chr19:19p13.11	benign\|likely benign\|uncertain significance
NM_000095.3(COMP):c.868-4C>T	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV000371849]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000296158]\|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 type 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 type 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 type 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 type 1 [RCV000365546]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000270982]\|not provided [RCV001558753]	Chr19:18782823 [GRCh38] Chr19:18893633 [GRCh37] Chr19:19p13.11	benign\|likely benign
NM_000095.3(COMP):c.1979C>G (p.Thr660Arg)	single nucleotide variant	Inborn genetic diseases [RCV002521198]\|Multiple epiphyseal dysplasia type 1 [RCV000394504]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000312363]\|not provided [RCV001850749]	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 type 1 [RCV000325933]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000380566]\|not provided [RCV004717233]	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 type 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	COMP-related disorder [RCV003897750]\|Multiple epiphyseal dysplasia type 1 [RCV000375163]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000320583]\|not provided [RCV002521199]	Chr19:18785751 [GRCh38] Chr19:18896561 [GRCh37] Chr19:19p13.11	likely benign\|uncertain significance
NM_000095.3(COMP):c.*111A>G	single nucleotide variant	Multiple epiphyseal dysplasia type 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	COMP-related disorder [RCV003957684]\|Multiple epiphyseal dysplasia type 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 type 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	Connective tissue disorder [RCV002278506]\|Multiple epiphyseal dysplasia type 1 [RCV000373360]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000337323]\|not provided [RCV000513897]	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 type 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 type 1 [RCV000263010]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000299405]\|not provided [RCV005055889]	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 type 1 [RCV000360258]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000265518]\|not provided [RCV001590966]	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 type 1 [RCV000350020]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000385885]\|not provided [RCV002521200]	Chr19:18788399 [GRCh38] Chr19:18899208 [GRCh37] Chr19:19p13.11	likely benign\|uncertain significance
NM_000095.3(COMP):c.1668+13T>G	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV000268733]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000305183]\|not provided [RCV001812863]	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	Multiple epiphyseal dysplasia [RCV002069395]\|Multiple epiphyseal dysplasia type 1 [RCV001810013]\|Multiple epiphyseal dysplasia type 1 [RCV002504388]\|not provided [RCV001269651]	Chr19:18786633 [GRCh38] Chr19:18897443 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic\|not provided
NM_000095.3(COMP):c.763-6C>G	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV000291667]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000346603]\|not provided [RCV003765904]	Chr19:18788520 [GRCh38] Chr19:18899329 [GRCh37] Chr19:19p13.11	likely benign\|uncertain significance
NM_000095.3(COMP):c.165+9C>A	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV000400676]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000314180]	Chr19:18790841 [GRCh38] Chr19:18901650 [GRCh37] Chr19:19p13.11	uncertain significance
NC_000019.10:g.18782760C>G	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 type 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 type 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 type 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 type 1 [RCV000385033]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV000290716]\|not provided [RCV004777651]	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 type 1 [RCV001127817]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127818]\|not provided [RCV000592194]	Chr19:18790129 [GRCh38] Chr19:18900938 [GRCh37] Chr19:19p13.11	benign\|likely benign\|conflicting interpretations of pathogenicity\|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	COMP-related disorder [RCV003955473]\|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	Inborn genetic diseases [RCV004027059]\|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	pathogenic\|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	pathogenic\|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	pathogenic\|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	pathogenic\|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	pathogenic\|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 type 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 provided [RCV001857263]\|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\|conflicting interpretations of pathogenicity
NM_000095.3(COMP):c.1489+2T>A	single nucleotide variant	Multiple epiphyseal dysplasia type 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]\|not specified [RCV005239129]	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
NM_000095.3(COMP):c.2032G>A (p.Asp678Asn)	single nucleotide variant	Inborn genetic diseases [RCV003251552]\|not provided [RCV005061152]\|not specified [RCV005240737]	Chr19:18784246 [GRCh38] Chr19:18895056 [GRCh37] Chr19:19p13.11	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.1518C>A (p.Asp506Glu)	single nucleotide variant	Inborn genetic diseases [RCV003292252]	Chr19:18785823 [GRCh38] Chr19:18896633 [GRCh37] Chr19:19p13.11	uncertain significance
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
NM_000095.3(COMP):c.951C>A (p.Asp317Glu)	single nucleotide variant	not provided [RCV001572833]	Chr19:18788236 [GRCh38] Chr19:18899045 [GRCh37] Chr19:19p13.11	likely benign\|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 type 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 type 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]\|not provided [RCV005092982]	Chr19:18788237 [GRCh38] Chr19:18899046 [GRCh37] Chr19:19p13.11	likely pathogenic\|uncertain significance
NM_000095.3(COMP):c.2150T>G (p.Met717Arg)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV000786925]	Chr19:18783131 [GRCh38] Chr19:18893941 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.976-216G>A	single nucleotide variant	not provided [RCV001708551]	Chr19:18787866 [GRCh38] Chr19:18898675 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.976-244_976-223del	deletion	not provided [RCV001575383]	Chr19:18787873..18787894 [GRCh38] Chr19:18898682..18898703 [GRCh37] Chr19:19p13.11	likely benign
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]\|not provided [RCV001597240]	Chr19:18786081..18786083 [GRCh38] Chr19:18896891..18896893 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic
NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr)	single nucleotide variant	Multiple epiphyseal dysplasia type 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	Connective tissue disorder [RCV002279653]\|Multiple epiphyseal dysplasia type 1 [RCV001127558]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127557]\|not provided [RCV000948474]	Chr19:18783129 [GRCh38] Chr19:18893939 [GRCh37] Chr19:19p13.11	benign\|likely 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]\|not provided [RCV005092981]	Chr19:18785789 [GRCh38] Chr19:18896599 [GRCh37] Chr19:19p13.11	pathogenic\|likely 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 type 1 [RCV001123638]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123639]\|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	pathogenic\|likely pathogenic
NM_000095.3(COMP):c.361_364dup (p.Gly122fs)	duplication	COMP-related disorder [RCV004545810]	Chr19:18789967..18789968 [GRCh38] Chr19:18900776..18900777 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1593C>G (p.Phe531Leu)	single nucleotide variant	Inborn genetic diseases [RCV003290959]	Chr19:18785748 [GRCh38] Chr19:18896558 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.700C>T (p.Pro234Ser)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV001124624]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124623]\|not provided [RCV001300856]\|not specified [RCV002249735]	Chr19:18788654 [GRCh38] Chr19:18899463 [GRCh37] Chr19:19p13.11	conflicting interpretations of pathogenicity\|uncertain significance
NM_000095.3(COMP):c.643G>C (p.Gly215Arg)	single nucleotide variant	Inborn genetic diseases [RCV004032257]\|Multiple epiphyseal dysplasia type 1 [RCV001124626]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124625]\|not provided [RCV001882411]	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 type 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 type 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 type 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 type 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 type 1 [RCV001127640]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001125547]\|not provided [RCV001856647]	Chr19:18786586 [GRCh38] Chr19:18897396 [GRCh37] Chr19:19p13.11	likely benign\|uncertain significance
NC_000019.10:g.18782619C>G	single nucleotide variant	not provided [RCV001571740]	Chr19:18782619 [GRCh38] Chr19:18893429 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.976-224_976-223del	deletion	not provided [RCV001547767]	Chr19:18787873..18787874 [GRCh38] Chr19:18898682..18898683 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.390+4C>G	single nucleotide variant	not provided [RCV003106769]	Chr19:18789938 [GRCh38] Chr19:18900747 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1393G>A (p.Gly465Ser)	single nucleotide variant	not provided [RCV001597461]	Chr19:18786061 [GRCh38] Chr19:18896871 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.604-2A>C	single nucleotide variant	not provided [RCV001562488]	Chr19:18788752 [GRCh38] Chr19:18899561 [GRCh37] Chr19:19p13.11	likely pathogenic\|conflicting interpretations of pathogenicity
NM_000095.3(COMP):c.976-236_976-223del	deletion	not provided [RCV001562645]	Chr19:18787873..18787886 [GRCh38] Chr19:18898682..18898695 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2087+98C>T	single nucleotide variant	not provided [RCV001673436]	Chr19:18784093 [GRCh38] Chr19:18894903 [GRCh37] Chr19:19p13.11	benign
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 type 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 type 1 [RCV000853330]\|not provided [RCV001597221]	Chr19:18788514 [GRCh38] Chr19:18899323 [GRCh37] Chr19:19p13.11	likely pathogenic\|uncertain significance
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 disorder [RCV004528391]\|not provided [RCV003106124]	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 type 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 type 1 [RCV001123441]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123440]\|not provided [RCV002556666]	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 disorder [RCV004528390]	Chr19:18782917 [GRCh38] Chr19:18893727 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1956C>T (p.Asn652=)	single nucleotide variant	Connective tissue disorder [RCV002279667]\|Multiple epiphyseal dysplasia type 1 [RCV001123439]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123438]\|not provided [RCV000957928]	Chr19:18784322 [GRCh38] Chr19:18895132 [GRCh37] Chr19:19p13.11	benign\|likely benign
NM_000095.3(COMP):c.1255-5C>T	single nucleotide variant	COMP-related disorder [RCV003977992]\|not provided [RCV000913838]	Chr19:18786296 [GRCh38] Chr19:18897106 [GRCh37] Chr19:19p13.11	benign\|likely benign
NM_000095.3(COMP):c.391-168C>G	single nucleotide variant	not provided [RCV001621544]	Chr19:18789465 [GRCh38] Chr19:18900274 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.391-254C>T	single nucleotide variant	not provided [RCV001595545]	Chr19:18789551 [GRCh38] Chr19:18900360 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.529-26G>A	single nucleotide variant	not provided [RCV001558877]	Chr19:18788939 [GRCh38] Chr19:18899748 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1255-79G>A	single nucleotide variant	not provided [RCV001560089]	Chr19:18786370 [GRCh38] Chr19:18897180 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.528+76T>C	single nucleotide variant	not provided [RCV001596174]	Chr19:18789084 [GRCh38] Chr19:18899893 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1526A>G (p.Asp509Gly)	single nucleotide variant	not provided [RCV003327823]	Chr19:18785815 [GRCh38] Chr19:18896625 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1A>G (p.Met1Val)	single nucleotide variant	Carpal tunnel syndrome 2 [RCV001543623]	Chr19:18791269 [GRCh38] Chr19:18902078 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.391-181G>A	single nucleotide variant	not provided [RCV001687417]	Chr19:18789478 [GRCh38] Chr19:18900287 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.390+269C>A	single nucleotide variant	not provided [RCV001565273]	Chr19:18789673 [GRCh38] Chr19:18900482 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1136-68dup	duplication	not provided [RCV001676666]	Chr19:18786716..18786717 [GRCh38] Chr19:18897526..18897527 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.345C>G (p.Pro115=)	single nucleotide variant	Multiple epiphyseal dysplasia type 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 type 1 [RCV001124534]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001124533]\|not provided [RCV002556699]	Chr19:18785007 [GRCh38] Chr19:18895817 [GRCh37] Chr19:19p13.11	likely benign\|uncertain significance
NM_000095.3(COMP):c.218-14C>A	single nucleotide variant	Multiple epiphyseal dysplasia type 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 disorder [RCV004528392]	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 type 1 [RCV001123543]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123542]\|not provided [RCV003688907]	Chr19:18788415 [GRCh38] Chr19:18899224 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.11A>C (p.Asp4Ala)	single nucleotide variant	Connective tissue disorder [RCV002276629]\|Inborn genetic diseases [RCV002558210]\|Multiple epiphyseal dysplasia type 1 [RCV001122041]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001122042]\|not provided [RCV001856606]	Chr19:18791259 [GRCh38] Chr19:18902068 [GRCh37] Chr19:19p13.11	likely benign\|uncertain significance
NM_000095.3(COMP):c.1318G>C (p.Gly440Arg)	single nucleotide variant	not provided [RCV001869425]\|not specified [RCV001001082]	Chr19:18786136 [GRCh38] Chr19:18896946 [GRCh37] Chr19:19p13.11	pathogenic\|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.1136-127_1136-114del	deletion	not provided [RCV001647913]	Chr19:18786764..18786777 [GRCh38] Chr19:18897573..18897586 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.1136-119_1136-114del	deletion	not provided [RCV001710973]	Chr19:18786764..18786769 [GRCh38] Chr19:18897573..18897578 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.1718-185G>C	single nucleotide variant	not provided [RCV001710692]	Chr19:18785277 [GRCh38] Chr19:18896087 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.1915-197C>T	single nucleotide variant	not provided [RCV001710524]	Chr19:18784560 [GRCh38] Chr19:18895370 [GRCh37] Chr19:19p13.11	benign
NC_000019.10:g.18791576TG[12]	microsatellite	not provided [RCV001681991]	Chr19:18791576..18791577 [GRCh38] Chr19:18902385..18902386 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.1718-143G>T	single nucleotide variant	not provided [RCV001669344]	Chr19:18785235 [GRCh38] Chr19:18896045 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.595A>G (p.Asn199Asp)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV001706901]	Chr19:18788847 [GRCh38] Chr19:18899656 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1563G>A (p.Pro521=)	single nucleotide variant	COMP-related disorder [RCV003900829]\|not provided [RCV001596845]	Chr19:18785778 [GRCh38] Chr19:18896588 [GRCh37] Chr19:19p13.11	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000095.3(COMP):c.1475A>C (p.Gln492Pro)	single nucleotide variant	not provided [RCV001596866]	Chr19:18785979 [GRCh38] Chr19:18896789 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1915-96C>T	single nucleotide variant	not provided [RCV001588165]	Chr19:18784459 [GRCh38] Chr19:18895269 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.976-219_976-218dup	duplication	not provided [RCV001691750]	Chr19:18787866..18787867 [GRCh38] Chr19:18898675..18898676 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.*61G>A	single nucleotide variant	not provided [RCV001645469]	Chr19:18782854 [GRCh38] Chr19:18893664 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.391-41G>A	single nucleotide variant	not provided [RCV001693856]	Chr19:18789338 [GRCh38] Chr19:18900147 [GRCh37] Chr19:19p13.11	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 type 1 [RCV001123545]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001123544]\|not provided [RCV002556668]	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 type 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 type 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 type 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	COMP-related disorder [RCV003945841]\|Multiple epiphyseal dysplasia type 1 [RCV001127641]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001127642]\|not provided [RCV005093588]	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 type 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 type 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 type 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 type 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	Multiple epiphyseal dysplasia type 1 [RCV001805971]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001250925]\|not provided [RCV001383286]	Chr19:18788313 [GRCh38] Chr19:18899122 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic\|association
NM_000095.3(COMP):c.1309G>A (p.Asp437Asn)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV002226751]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001250923]\|not provided [RCV001860606]	Chr19:18786145 [GRCh38] Chr19:18896955 [GRCh37] Chr19:19p13.11	likely pathogenic\|uncertain significance
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
NM_000095.3(COMP):c.1020C>G (p.Asp340Glu)	single nucleotide variant	Inborn genetic diseases [RCV004608332]	Chr19:18787606 [GRCh38] Chr19:18898415 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2020G>A (p.Val674Met)	single nucleotide variant	Inborn genetic diseases [RCV004608333]	Chr19:18784258 [GRCh38] Chr19:18895068 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.976-240_976-223del	deletion	not provided [RCV001642041]	Chr19:18787873..18787890 [GRCh38] Chr19:18898682..18898699 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.1135+305C>T	single nucleotide variant	not provided [RCV001565129]	Chr19:18787186 [GRCh38] Chr19:18897995 [GRCh37] Chr19:19p13.11	likely benign
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	not provided [RCV001812351]	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	pathogenic\|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.1136-114del	deletion	not provided [RCV001537115]	Chr19:18786764 [GRCh38] Chr19:18897573 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1454G>A (p.Arg485His)	single nucleotide variant	Multiple epiphyseal dysplasia type 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	likely pathogenic\|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	likely benign\|uncertain significance
NM_000095.3(COMP):c.811G>T (p.Asp271Tyr)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002242312]\|not provided [RCV001342121]	Chr19:18788466 [GRCh38] Chr19:18899275 [GRCh37] Chr19:19p13.11	pathogenic\|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 type 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\|likely 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	Inborn genetic diseases [RCV003263954]\|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	Inborn genetic diseases [RCV003169832]\|not provided [RCV001364433]	Chr19:18789292 [GRCh38] Chr19:18900101 [GRCh37] Chr19:19p13.11	benign\|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	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002242574]\|not provided [RCV001364544]	Chr19:18786145 [GRCh38] Chr19:18896955 [GRCh37] Chr19:19p13.11	pathogenic\|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	likely pathogenic\|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	likely pathogenic\|uncertain significance
NM_000095.3(COMP):c.968A>G (p.Asn323Ser)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV001354542]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001357397]\|not provided [RCV001751693]	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	likely benign\|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	Multiple epiphyseal dysplasia type 1 [RCV003232336]\|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	Inborn genetic diseases [RCV002555158]\|not provided [RCV001429888]	Chr19:18784290 [GRCh38] Chr19:18895100 [GRCh37] Chr19:19p13.11	likely benign\|uncertain significance
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	pathogenic\|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.976-228_976-223del	deletion	not provided [RCV001545724]	Chr19:18787873..18787878 [GRCh38] Chr19:18898682..18898687 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1304A>T (p.Asp435Val)	single nucleotide variant	not provided [RCV001597481]	Chr19:18786242 [GRCh38] Chr19:18897052 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1811A>G (p.Gln604Arg)	single nucleotide variant	not provided [RCV001597508]	Chr19:18784999 [GRCh38] Chr19:18895809 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.391-129T>A	single nucleotide variant	not provided [RCV001709155]	Chr19:18789426 [GRCh38] Chr19:18900235 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.1136-118_1136-114del	deletion	not provided [RCV001681791]	Chr19:18786764..18786768 [GRCh38] Chr19:18897573..18897577 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.975+235C>G	single nucleotide variant	not provided [RCV001609243]	Chr19:18787977 [GRCh38] Chr19:18898786 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.976-223_976-222dup	duplication	not provided [RCV001691563]	Chr19:18787870..18787871 [GRCh38] Chr19:18898679..18898680 [GRCh37] Chr19:19p13.11	benign
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.1136-142_1136-140dup	duplication	not provided [RCV001611811]	Chr19:18786763..18786764 [GRCh38] Chr19:18897572..18897573 [GRCh37] Chr19:19p13.11	benign
NC_000019.10:g.18791576TG[14]	microsatellite	not provided [RCV001650399]	Chr19:18791575..18791576 [GRCh38] Chr19:18902384..18902385 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.391-71G>C	single nucleotide variant	not provided [RCV001590644]	Chr19:18789368 [GRCh38] Chr19:18900177 [GRCh37] Chr19:19p13.11	likely 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	pathogenic\|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	pathogenic\|likely pathogenic
NM_000095.3(COMP):c.1394G>T (p.Gly465Val)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002227890]	Chr19:18786060 [GRCh38] Chr19:18896870 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.2170dup (p.Val724fs)	duplication	Multiple epiphyseal dysplasia type 1 [RCV002238714]	Chr19:18783110..18783111 [GRCh38] Chr19:18893920..18893921 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.886C>T (p.Pro296Ser)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV002238717]\|not provided [RCV005095797]	Chr19:18788301 [GRCh38] Chr19:18899110 [GRCh37] Chr19:19p13.11	pathogenic\|uncertain significance
NM_000095.3(COMP):c.1367A>C (p.Gln456Pro)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV002238718]	Chr19:18786087 [GRCh38] Chr19:18896897 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.805G>A (p.Asp269Asn)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV003388609]\|not provided [RCV001727082]	Chr19:18788472 [GRCh38] Chr19:18899281 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic\|uncertain significance
NM_000095.3(COMP):c.1228T>G (p.Cys410Gly)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV001730047]	Chr19:18786558 [GRCh38] Chr19:18897368 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.746G>T (p.Gly249Val)	single nucleotide variant	not provided [RCV002245129]	Chr19:18788608 [GRCh38] Chr19:18899417 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.891C>A (p.Asn297Lys)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002238715]	Chr19:18788296 [GRCh38] Chr19:18899105 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1521C>G (p.Asp507Glu)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002238716]	Chr19:18785820 [GRCh38] Chr19:18896630 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1471G>A (p.Gly491Ser)	single nucleotide variant	not provided [RCV001761433]	Chr19:18785983 [GRCh38] Chr19:18896793 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1136-1_1144del	deletion	not provided [RCV001780860]	Chr19:18786642..18786651 [GRCh38] Chr19:18897452..18897461 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1051T>C (p.Cys351Arg)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002240139]	Chr19:18787575 [GRCh38] Chr19:18898384 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1309G>C (p.Asp437His)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002240141]	Chr19:18786145 [GRCh38] Chr19:18896955 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.1501G>A (p.Gly501Ser)	single nucleotide variant	Multiple epiphyseal dysplasia [RCV001787703]\|Multiple epiphyseal dysplasia type 1 [RCV002236174]\|not provided [RCV003546716]	Chr19:18785840 [GRCh38] Chr19:18896650 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.974A>T (p.Lys325Met)	single nucleotide variant	not provided [RCV001756752]	Chr19:18788213 [GRCh38] Chr19:18899022 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1403G>T (p.Cys468Phe)	single nucleotide variant	Abnormality of the skeletal system [RCV001814443]	Chr19:18786051 [GRCh38] Chr19:18896861 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.314C>T (p.Thr105Met)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV001809006]	Chr19:18790018 [GRCh38] Chr19:18900827 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.925G>A (p.Gly309Arg)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001806405]\|not provided [RCV003560854]	Chr19:18788262 [GRCh38] Chr19:18899071 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.983G>T (p.Cys328Phe)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV001806420]	Chr19:18787643 [GRCh38] Chr19:18898452 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.976G>A (p.Asp326Asn)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV001806396]\|not provided [RCV002542418]	Chr19:18787650 [GRCh38] Chr19:18898459 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic
NM_000095.3(COMP):c.817G>C (p.Asp273His)	single nucleotide variant	not provided [RCV001915174]	Chr19:18788460 [GRCh38] Chr19:18899269 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1201G>T (p.Asp401Tyr)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV001823667]	Chr19:18786585 [GRCh38] Chr19:18897395 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1382A>C (p.His461Pro)	single nucleotide variant	not provided [RCV001928281]	Chr19:18786072 [GRCh38] Chr19:18896882 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.798_799del (p.Cys266fs)	microsatellite	not provided [RCV001873081]	Chr19:18788478..18788479 [GRCh38] Chr19:18899287..18899288 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.895G>A (p.Gly299Arg)	single nucleotide variant	not provided [RCV001875035]	Chr19:18788292 [GRCh38] Chr19:18899101 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.762+5G>C	single nucleotide variant	not provided [RCV001930129]	Chr19:18788587 [GRCh38] Chr19:18899396 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1468C>A (p.Pro490Thr)	single nucleotide variant	not provided [RCV002025115]	Chr19:18785986 [GRCh38] Chr19:18896796 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.218-6C>A	single nucleotide variant	COMP-related disorder [RCV003976244]\|not provided [RCV001874628]	Chr19:18790120 [GRCh38] Chr19:18900929 [GRCh37] Chr19:19p13.11	likely benign\|uncertain significance
NM_000095.3(COMP):c.2065C>T (p.Arg689Trp)	single nucleotide variant	Inborn genetic diseases [RCV004039158]\|not provided [RCV001891252]	Chr19:18784213 [GRCh38] Chr19:18895023 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1442G>A (p.Arg481Gln)	single nucleotide variant	not provided [RCV002004072]	Chr19:18786012 [GRCh38] Chr19:18896822 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.477C>G (p.Ser159Arg)	single nucleotide variant	Inborn genetic diseases [RCV002579615]\|not provided [RCV002005614]	Chr19:18789211 [GRCh38] Chr19:18900020 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1666C>T (p.Gln556Ter)	single nucleotide variant	not provided [RCV002004179]	Chr19:18785675 [GRCh38] Chr19:18896485 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1319G>A (p.Gly440Glu)	single nucleotide variant	COMP-related disorder [RCV004754813]\|not provided [RCV001984983]	Chr19:18786135 [GRCh38] Chr19:18896945 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic
NM_000095.3(COMP):c.1229G>A (p.Cys410Tyr)	single nucleotide variant	not provided [RCV001892653]	Chr19:18786557 [GRCh38] Chr19:18897367 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.806A>C (p.Asp269Ala)	single nucleotide variant	not provided [RCV002006097]	Chr19:18788471 [GRCh38] Chr19:18899280 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1311_1316del (p.437DG[1])	deletion	not provided [RCV001984279]	Chr19:18786138..18786143 [GRCh38] Chr19:18896948..18896953 [GRCh37] Chr19:19p13.11	likely pathogenic\|uncertain significance
NM_000095.3(COMP):c.2242G>A (p.Asp748Asn)	single nucleotide variant	not provided [RCV001890701]	Chr19:18782947 [GRCh38] Chr19:18893757 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1228T>C (p.Cys410Arg)	single nucleotide variant	not provided [RCV002022844]	Chr19:18786558 [GRCh38] Chr19:18897368 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.555G>C (p.Glu185Asp)	single nucleotide variant	not provided [RCV002020655]	Chr19:18788887 [GRCh38] Chr19:18899696 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1126G>C (p.Asp376His)	single nucleotide variant	not provided [RCV001945476]	Chr19:18787500 [GRCh38] Chr19:18898309 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.1469C>G (p.Pro490Arg)	single nucleotide variant	not provided [RCV002004327]	Chr19:18785985 [GRCh38] Chr19:18896795 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1096_1097insATGCGT (p.Gly366delinsAspAlaCys)	insertion	not provided [RCV002024488]	Chr19:18787529..18787530 [GRCh38] Chr19:18898338..18898339 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1279G>A (p.Gly427Arg)	single nucleotide variant	not provided [RCV001986315]	Chr19:18786267 [GRCh38] Chr19:18897077 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1111T>C (p.Cys371Arg)	single nucleotide variant	not provided [RCV001966990]	Chr19:18787515 [GRCh38] Chr19:18898324 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.955G>A (p.Asp319Asn)	single nucleotide variant	not provided [RCV002023198]	Chr19:18788232 [GRCh38] Chr19:18899041 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1429G>A (p.Val477Ile)	single nucleotide variant	not provided [RCV002023754]	Chr19:18786025 [GRCh38] Chr19:18896835 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1249G>T (p.Asp417Tyr)	single nucleotide variant	not provided [RCV001871244]	Chr19:18786537 [GRCh38] Chr19:18897347 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.905A>T (p.Asp302Val)	single nucleotide variant	not provided [RCV001927808]	Chr19:18788282 [GRCh38] Chr19:18899091 [GRCh37] Chr19:19p13.11	pathogenic
NC_000019.9:g.(?_18893725)_(18902078_?)dup	duplication	not provided [RCV001909641]	Chr19:18893725..18902078 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.705C>T (p.Ser235=)	single nucleotide variant	not provided [RCV001889900]	Chr19:18788649 [GRCh38] Chr19:18899458 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1957G>A (p.Ala653Thr)	single nucleotide variant	not provided [RCV002020593]	Chr19:18784321 [GRCh38] Chr19:18895131 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.658G>C (p.Gly220Arg)	single nucleotide variant	not provided [RCV002000788]	Chr19:18788696 [GRCh38] Chr19:18899505 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2219G>A (p.Arg740His)	single nucleotide variant	not provided [RCV001888582]	Chr19:18783062 [GRCh38] Chr19:18893872 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1336G>C (p.Asp446His)	single nucleotide variant	not provided [RCV001996426]	Chr19:18786118 [GRCh38] Chr19:18896928 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.887C>T (p.Pro296Leu)	single nucleotide variant	not provided [RCV001975876]	Chr19:18788300 [GRCh38] Chr19:18899109 [GRCh37] Chr19:19p13.11	likely pathogenic\|uncertain significance
NM_000095.3(COMP):c.1068C>G (p.Asn356Lys)	single nucleotide variant	not provided [RCV002001422]	Chr19:18787558 [GRCh38] Chr19:18898367 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1882C>T (p.Arg628Cys)	single nucleotide variant	Inborn genetic diseases [RCV004044244]\|not provided [RCV001923995]	Chr19:18784928 [GRCh38] Chr19:18895738 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1132G>A (p.Asp378Asn)	single nucleotide variant	COMP-related disorder [RCV004754819]\|not provided [RCV001942221]	Chr19:18787494 [GRCh38] Chr19:18898303 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic
NM_000095.3(COMP):c.1196A>T (p.Asp399Val)	single nucleotide variant	Inborn genetic diseases [RCV002550465]\|not provided [RCV002028021]	Chr19:18786590 [GRCh38] Chr19:18897400 [GRCh37] Chr19:19p13.11	pathogenic\|uncertain significance
NM_000095.3(COMP):c.499G>T (p.Gly167Trp)	single nucleotide variant	not provided [RCV002051372]	Chr19:18789189 [GRCh38] Chr19:18899998 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1331C>G (p.Ser444Cys)	single nucleotide variant	Connective tissue disorder [RCV002276979]\|Inborn genetic diseases [RCV002642039]\|not provided [RCV001996175]	Chr19:18786123 [GRCh38] Chr19:18896933 [GRCh37] Chr19:19p13.11	uncertain significance
NC_000019.9:g.(?_18893725)_(19312528_?)del	deletion	Progressive myoclonic epilepsy type 8 [RCV001955725]	Chr19:18893725..19312528 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.592A>T (p.Ile198Phe)	single nucleotide variant	not provided [RCV002033376]	Chr19:18788850 [GRCh38] Chr19:18899659 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1043G>A (p.Cys348Tyr)	single nucleotide variant	not provided [RCV001974324]	Chr19:18787583 [GRCh38] Chr19:18898392 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1280G>A (p.Gly427Glu)	single nucleotide variant	not provided [RCV001953820]	Chr19:18786266 [GRCh38] Chr19:18897076 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.397_398del (p.Ala133fs)	deletion	not provided [RCV002026522]	Chr19:18789290..18789291 [GRCh38] Chr19:18900099..18900100 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1265A>G (p.Asp422Gly)	single nucleotide variant	not provided [RCV001898903]	Chr19:18786281 [GRCh38] Chr19:18897091 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.390+5G>A	single nucleotide variant	not provided [RCV002047874]	Chr19:18789937 [GRCh38] Chr19:18900746 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1153_1155del (p.Asp385del)	deletion	not provided [RCV002014149]	Chr19:18786631..18786633 [GRCh38] Chr19:18897441..18897443 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.2092C>T (p.Arg698Ter)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV003138042]\|not provided [RCV002014278]	Chr19:18783189 [GRCh38] Chr19:18893999 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.806A>G (p.Asp269Gly)	single nucleotide variant	not provided [RCV001901791]	Chr19:18788471 [GRCh38] Chr19:18899280 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.358G>T (p.Gly120Cys)	single nucleotide variant	not provided [RCV001880401]	Chr19:18789974 [GRCh38] Chr19:18900783 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2245T>C (p.Tyr749His)	single nucleotide variant	not provided [RCV001960920]	Chr19:18782944 [GRCh38] Chr19:18893754 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1871C>T (p.Ala624Val)	single nucleotide variant	not provided [RCV001939116]	Chr19:18784939 [GRCh38] Chr19:18895749 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1496G>T (p.Gly499Val)	single nucleotide variant	Inborn genetic diseases [RCV003247068]\|not provided [RCV001902025]	Chr19:18785845 [GRCh38] Chr19:18896655 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1240A>C (p.Ser414Arg)	single nucleotide variant	not provided [RCV001961538]	Chr19:18786546 [GRCh38] Chr19:18897356 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1268A>C (p.His423Pro)	single nucleotide variant	not provided [RCV002033852]	Chr19:18786278 [GRCh38] Chr19:18897088 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.760G>A (p.Val254Met)	single nucleotide variant	not provided [RCV002016625]	Chr19:18788594 [GRCh38] Chr19:18899403 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1553A>G (p.Asp518Gly)	single nucleotide variant	not provided [RCV001864873]	Chr19:18785788 [GRCh38] Chr19:18896598 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.1113C>G (p.Cys371Trp)	single nucleotide variant	not provided [RCV002014848]	Chr19:18787513 [GRCh38] Chr19:18898322 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1870G>A (p.Ala624Thr)	single nucleotide variant	not provided [RCV001915977]	Chr19:18784940 [GRCh38] Chr19:18895750 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.762+12C>T	single nucleotide variant	not provided [RCV001937607]	Chr19:18788580 [GRCh38] Chr19:18899389 [GRCh37] Chr19:19p13.11	likely benign\|uncertain significance
NM_000095.3(COMP):c.1581_1586del (p.Leu528_Thr529del)	deletion	not provided [RCV002046288]	Chr19:18785755..18785760 [GRCh38] Chr19:18896565..18896570 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.228G>T (p.Gln76His)	single nucleotide variant	not provided [RCV001935812]	Chr19:18790104 [GRCh38] Chr19:18900913 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1520A>G (p.Asp507Gly)	single nucleotide variant	not provided [RCV001900238]	Chr19:18785821 [GRCh38] Chr19:18896631 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.1136G>A (p.Arg379Gln)	single nucleotide variant	Inborn genetic diseases [RCV003289182]\|not provided [RCV001882024]	Chr19:18786650 [GRCh38] Chr19:18897460 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1441C>T (p.Arg481Trp)	single nucleotide variant	not provided [RCV001999275]	Chr19:18786013 [GRCh38] Chr19:18896823 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1045G>A (p.Asp349Asn)	single nucleotide variant	not provided [RCV001933821]	Chr19:18787581 [GRCh38] Chr19:18898390 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.1579A>G (p.Thr527Ala)	single nucleotide variant	not provided [RCV002033868]	Chr19:18785762 [GRCh38] Chr19:18896572 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1404C>G (p.Cys468Trp)	single nucleotide variant	not provided [RCV001998503]	Chr19:18786050 [GRCh38] Chr19:18896860 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1632C>A (p.Asp544Glu)	single nucleotide variant	not provided [RCV001998184]	Chr19:18785709 [GRCh38] Chr19:18896519 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.167T>C (p.Val56Ala)	single nucleotide variant	not provided [RCV002031481]	Chr19:18790612 [GRCh38] Chr19:18901421 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1634C>T (p.Ala545Val)	single nucleotide variant	not provided [RCV002019346]	Chr19:18785707 [GRCh38] Chr19:18896517 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1924T>A (p.Ser642Thr)	single nucleotide variant	not provided [RCV001886055]	Chr19:18784354 [GRCh38] Chr19:18895164 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.929A>T (p.Asp310Val)	single nucleotide variant	not provided [RCV001877281]	Chr19:18788258 [GRCh38] Chr19:18899067 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del)	microsatellite	Multiple epiphyseal dysplasia type 1 [RCV002290796]\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002259406]\|not provided [RCV001901762]	Chr19:18787504..18787506 [GRCh38] Chr19:18898313..18898315 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic
NM_000095.3(COMP):c.2155G>T (p.Gly719Cys)	single nucleotide variant	not provided [RCV001996039]	Chr19:18783126 [GRCh38] Chr19:18893936 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1691T>C (p.Met564Thr)	single nucleotide variant	not provided [RCV001877419]	Chr19:18785524 [GRCh38] Chr19:18896334 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1021G>A (p.Glu341Lys)	single nucleotide variant	not provided [RCV001974091]	Chr19:18787605 [GRCh38] Chr19:18898414 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.684C>G (p.Phe228Leu)	single nucleotide variant	not provided [RCV001976930]	Chr19:18788670 [GRCh38] Chr19:18899479 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1279G>C (p.Gly427Arg)	single nucleotide variant	not provided [RCV002017145]	Chr19:18786267 [GRCh38] Chr19:18897077 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1503C>T (p.Gly501=)	single nucleotide variant	not provided [RCV002012099]	Chr19:18785838 [GRCh38] Chr19:18896648 [GRCh37] Chr19:19p13.11	likely benign\|uncertain significance
NM_000095.3(COMP):c.58G>A (p.Gly20Arg)	single nucleotide variant	not provided [RCV001899562]	Chr19:18791212 [GRCh38] Chr19:18902021 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1239G>A (p.Lys413=)	single nucleotide variant	not provided [RCV002209407]	Chr19:18786547 [GRCh38] Chr19:18897357 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.390+18C>G	single nucleotide variant	not provided [RCV002089580]	Chr19:18789924 [GRCh38] Chr19:18900733 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.219G>C (p.Gly73=)	single nucleotide variant	not provided [RCV002191072]	Chr19:18790113 [GRCh38] Chr19:18900922 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1481A>G (p.Asp494Gly)	single nucleotide variant	not provided [RCV002224622]	Chr19:18785973 [GRCh38] Chr19:18896783 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2228-20C>T	single nucleotide variant	not provided [RCV002092251]	Chr19:18782981 [GRCh38] Chr19:18893791 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2087+11C>T	single nucleotide variant	not provided [RCV002109736]	Chr19:18784180 [GRCh38] Chr19:18894990 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2228-19G>A	single nucleotide variant	not provided [RCV002128323]	Chr19:18782980 [GRCh38] Chr19:18893790 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.949G>T (p.Asp317Tyr)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV002249014]	Chr19:18788238 [GRCh38] Chr19:18899047 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.2166G>C (p.Leu722=)	single nucleotide variant	not provided [RCV002207765]	Chr19:18783115 [GRCh38] Chr19:18893925 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1254+18T>C	single nucleotide variant	not provided [RCV002110826]	Chr19:18786514 [GRCh38] Chr19:18897324 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.165+19G>A	single nucleotide variant	not provided [RCV002191419]	Chr19:18790831 [GRCh38] Chr19:18901640 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2082C>T (p.Tyr694=)	single nucleotide variant	not provided [RCV002187879]	Chr19:18784196 [GRCh38] Chr19:18895006 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.412C>G (p.Pro138Ala)	single nucleotide variant	not provided [RCV002092174]	Chr19:18789276 [GRCh38] Chr19:18900085 [GRCh37] Chr19:19p13.11	benign\|conflicting interpretations of pathogenicity
NM_000095.3(COMP):c.218-5C>G	single nucleotide variant	not provided [RCV002104481]	Chr19:18790119 [GRCh38] Chr19:18900928 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.500G>A (p.Gly167Glu)	single nucleotide variant	Multiple epiphyseal dysplasia [RCV002210944]	Chr19:18789188 [GRCh38] Chr19:18899997 [GRCh37] Chr19:19p13.11	not provided
NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del)	deletion	Multiple epiphyseal dysplasia [RCV002210947]	Chr19:18787522..18787527 [GRCh38] Chr19:18898331..18898336 [GRCh37] Chr19:19p13.11	not provided
NM_000095.3(COMP):c.166-16C>T	single nucleotide variant	not provided [RCV002131184]	Chr19:18790629 [GRCh38] Chr19:18901438 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.255G>A (p.Val85=)	single nucleotide variant	not provided [RCV002173237]	Chr19:18790077 [GRCh38] Chr19:18900886 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1581G>A (p.Thr527=)	single nucleotide variant	Connective tissue disorder [RCV002277006]\|not provided [RCV002195312]	Chr19:18785760 [GRCh38] Chr19:18896570 [GRCh37] Chr19:19p13.11	likely benign\|uncertain significance
NM_000095.3(COMP):c.2133G>A (p.Val711=)	single nucleotide variant	not provided [RCV002116358]	Chr19:18783148 [GRCh38] Chr19:18893958 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2034C>T (p.Asp678=)	single nucleotide variant	not provided [RCV002167576]	Chr19:18784244 [GRCh38] Chr19:18895054 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1668+20G>T	single nucleotide variant	not provided [RCV002115907]	Chr19:18785653 [GRCh38] Chr19:18896463 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.576C>G (p.Val192=)	single nucleotide variant	not provided [RCV002173419]	Chr19:18788866 [GRCh38] Chr19:18899675 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1489+7C>G	single nucleotide variant	not provided [RCV002176987]	Chr19:18785958 [GRCh38] Chr19:18896768 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.36C>T (p.Thr12=)	single nucleotide variant	not provided [RCV002175398]	Chr19:18791234 [GRCh38] Chr19:18902043 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2227+18G>A	single nucleotide variant	not provided [RCV002218131]	Chr19:18783036 [GRCh38] Chr19:18893846 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.1680C>A (p.Ile560=)	single nucleotide variant	not provided [RCV002135643]	Chr19:18785535 [GRCh38] Chr19:18896345 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1126G>A (p.Asp376Asn)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV002221407]	Chr19:18787500 [GRCh38] Chr19:18898309 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1938C>T (p.Pro646=)	single nucleotide variant	not provided [RCV002217475]	Chr19:18784340 [GRCh38] Chr19:18895150 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.528+12G>T	single nucleotide variant	not provided [RCV002118957]	Chr19:18789148 [GRCh38] Chr19:18899957 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.868-16C>T	single nucleotide variant	not provided [RCV002104198]	Chr19:18788335 [GRCh38] Chr19:18899144 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.918T>C (p.Asp306=)	single nucleotide variant	not provided [RCV002175838]	Chr19:18788269 [GRCh38] Chr19:18899078 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.382G>A (p.Val128Ile)	single nucleotide variant	Connective tissue disorder [RCV002276997]\|not provided [RCV002154868]	Chr19:18789950 [GRCh38] Chr19:18900759 [GRCh37] Chr19:19p13.11	likely benign\|uncertain significance
NM_000095.3(COMP):c.1669-20_1669-18del	microsatellite	not provided [RCV002219617]	Chr19:18785564..18785566 [GRCh38] Chr19:18896374..18896376 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.604-12_604-4dup	duplication	not provided [RCV003115893]	Chr19:18788753..18788754 [GRCh38] Chr19:18899562..18899563 [GRCh37] Chr19:19p13.11	likely benign
NC_000019.9:g.(?_17927663)_(19312528_?)dup	duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003116292]	Chr19:17927663..19312528 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.142G>T (p.Val48Leu)	single nucleotide variant	not provided [RCV003117915]	Chr19:18790873 [GRCh38] Chr19:18901682 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.936C>A (p.Cys312Ter)	single nucleotide variant	not provided [RCV003123153]	Chr19:18788251 [GRCh38] Chr19:18899060 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1682T>C (p.Val561Ala)	single nucleotide variant	not provided [RCV003327760]	Chr19:18785533 [GRCh38] Chr19:18896343 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.111A>C (p.Glu37Asp)	single nucleotide variant	Inborn genetic diseases [RCV004608329]	Chr19:18790904 [GRCh38] Chr19:18901713 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.227A>G (p.Gln76Arg)	single nucleotide variant	Inborn genetic diseases [RCV004608331]	Chr19:18790105 [GRCh38] Chr19:18900914 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.856C>G (p.Gln286Glu)	single nucleotide variant	Inborn genetic diseases [RCV004608334]	Chr19:18788421 [GRCh38] Chr19:18899230 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.868G>T (p.Asp290Tyr)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002227954]	Chr19:18788319 [GRCh38] Chr19:18899128 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.1316A>G (p.Asp439Gly)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV003153166]	Chr19:18786138 [GRCh38] Chr19:18896948 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.166-15A>G	single nucleotide variant	not provided [RCV003666172]	Chr19:18790628 [GRCh38] Chr19:18901437 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1417G>C (p.Asp473His)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV003234856]	Chr19:18786037 [GRCh38] Chr19:18896847 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.529-2A>T	single nucleotide variant	See cases [RCV002275377]	Chr19:18788915 [GRCh38] Chr19:18899724 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1978A>G (p.Thr660Ala)	single nucleotide variant	not provided [RCV002273620]	Chr19:18784300 [GRCh38] Chr19:18895110 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1521C>A (p.Asp507Glu)	single nucleotide variant	Connective tissue disorder [RCV002278709]	Chr19:18785820 [GRCh38] Chr19:18896630 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.768C>A (p.Ala256=)	single nucleotide variant	Connective tissue disorder [RCV002278712]	Chr19:18788509 [GRCh38] Chr19:18899318 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2048G>A (p.Arg683His)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV002269814]	Chr19:18784230 [GRCh38] Chr19:18895040 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.781_782inv (p.Gly261Pro)	inversion	not provided [RCV002276066]	Chr19:18788495..18788496 [GRCh38] Chr19:18899304..18899305 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.217+4A>G	single nucleotide variant	Connective tissue disorder [RCV002278711]	Chr19:18790558 [GRCh38] Chr19:18901367 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1665C>G (p.Asn555Lys)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV002288301]\|not provided [RCV003097765]	Chr19:18785676 [GRCh38] Chr19:18896486 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic
NM_000095.3(COMP):c.2077G>T (p.Gly693Cys)	single nucleotide variant	not provided [RCV003234281]	Chr19:18784201 [GRCh38] Chr19:18895011 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2078dup (p.Tyr694fs)	duplication	not provided [RCV002837843]	Chr19:18784199..18784200 [GRCh38] Chr19:18895009..18895010 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1045G>C (p.Asp349His)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002306432]	Chr19:18787581 [GRCh38] Chr19:18898390 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.762+13G>T	single nucleotide variant	not specified [RCV002308603]	Chr19:18788579 [GRCh38] Chr19:18899388 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1545C>A (p.Asp515Glu)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV002306428]	Chr19:18785796 [GRCh38] Chr19:18896606 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1775C>G (p.Thr592Arg)	single nucleotide variant	Inborn genetic diseases [RCV002901547]	Chr19:18785035 [GRCh38] Chr19:18895845 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.440C>T (p.Pro147Leu)	single nucleotide variant	Inborn genetic diseases [RCV004973659]\|not provided [RCV002842083]	Chr19:18789248 [GRCh38] Chr19:18900057 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2208C>A (p.Asn736Lys)	single nucleotide variant	not provided [RCV003013585]	Chr19:18783073 [GRCh38] Chr19:18893883 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.794T>C (p.Leu265Pro)	single nucleotide variant	not provided [RCV003032708]	Chr19:18788483 [GRCh38] Chr19:18899292 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1490G>T (p.Arg497Met)	single nucleotide variant	not provided [RCV002995395]	Chr19:18785851 [GRCh38] Chr19:18896661 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1417G>A (p.Asp473Asn)	single nucleotide variant	not provided [RCV002511927]	Chr19:18786037 [GRCh38] Chr19:18896847 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.646G>T (p.Asp216Tyr)	single nucleotide variant	not provided [RCV002614130]	Chr19:18788708 [GRCh38] Chr19:18899517 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1054C>T (p.Arg352Trp)	single nucleotide variant	Inborn genetic diseases [RCV002729109]\|not provided [RCV003777692]	Chr19:18787572 [GRCh38] Chr19:18898381 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.927A>T (p.Gly309=)	single nucleotide variant	not provided [RCV002838303]	Chr19:18788260 [GRCh38] Chr19:18899069 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1200C>G (p.Gly400=)	single nucleotide variant	not provided [RCV002839233]	Chr19:18786586 [GRCh38] Chr19:18897396 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1494C>T (p.Asp498=)	single nucleotide variant	not provided [RCV002731407]	Chr19:18785847 [GRCh38] Chr19:18896657 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1677G>A (p.Glu559=)	single nucleotide variant	not provided [RCV002616140]	Chr19:18785538 [GRCh38] Chr19:18896348 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.1758C>T (p.Phe586=)	single nucleotide variant	not provided [RCV002996826]	Chr19:18785052 [GRCh38] Chr19:18895862 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1793G>A (p.Gly598Asp)	single nucleotide variant	not provided [RCV002927989]	Chr19:18785017 [GRCh38] Chr19:18895827 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.684C>T (p.Phe228=)	single nucleotide variant	not provided [RCV002593388]	Chr19:18788670 [GRCh38] Chr19:18899479 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.988C>G (p.Leu330Val)	single nucleotide variant	not provided [RCV002571140]	Chr19:18787638 [GRCh38] Chr19:18898447 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1483G>A (p.Ala495Thr)	single nucleotide variant	Inborn genetic diseases [RCV002738101]	Chr19:18785971 [GRCh38] Chr19:18896781 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1527T>A (p.Asp509Glu)	single nucleotide variant	not provided [RCV002825553]	Chr19:18785814 [GRCh38] Chr19:18896624 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.1255-2A>G	single nucleotide variant	not provided [RCV003003323]	Chr19:18786293 [GRCh38] Chr19:18897103 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.391-14C>A	single nucleotide variant	not provided [RCV002569560]	Chr19:18789311 [GRCh38] Chr19:18900120 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1617G>A (p.Leu539=)	single nucleotide variant	not provided [RCV002572197]	Chr19:18785724 [GRCh38] Chr19:18896534 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.79+13A>G	single nucleotide variant	not provided [RCV002800400]	Chr19:18791178 [GRCh38] Chr19:18901987 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.289T>C (p.Phe97Leu)	single nucleotide variant	not provided [RCV002820437]	Chr19:18790043 [GRCh38] Chr19:18900852 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1738G>C (p.Val580Leu)	single nucleotide variant	Inborn genetic diseases [RCV002950261]	Chr19:18785072 [GRCh38] Chr19:18895882 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1979_1980del (p.Thr660fs)	microsatellite	not provided [RCV003054168]	Chr19:18784298..18784299 [GRCh38] Chr19:18895108..18895109 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1453C>G (p.Arg485Gly)	single nucleotide variant	not provided [RCV002736226]	Chr19:18786001 [GRCh38] Chr19:18896811 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1358A>C (p.Asn453Thr)	single nucleotide variant	not provided [RCV002820681]	Chr19:18786096 [GRCh38] Chr19:18896906 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1123_1128del (p.Ile375_Asp376del)	deletion	not provided [RCV003020597]	Chr19:18787498..18787503 [GRCh38] Chr19:18898307..18898312 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1258G>T (p.Asp420Tyr)	single nucleotide variant	not provided [RCV002866455]	Chr19:18786288 [GRCh38] Chr19:18897098 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1770G>A (p.Thr590=)	single nucleotide variant	not provided [RCV003002256]	Chr19:18785040 [GRCh38] Chr19:18895850 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.920G>C (p.Gly307Ala)	single nucleotide variant	not provided [RCV002780245]	Chr19:18788267 [GRCh38] Chr19:18899076 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2122G>A (p.Asp708Asn)	single nucleotide variant	not provided [RCV002636704]	Chr19:18783159 [GRCh38] Chr19:18893969 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1164T>A (p.Pro388=)	single nucleotide variant	not provided [RCV002823818]	Chr19:18786622 [GRCh38] Chr19:18897432 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.867+17C>A	single nucleotide variant	not provided [RCV002761215]	Chr19:18788393 [GRCh38] Chr19:18899202 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1217C>T (p.Ala406Val)	single nucleotide variant	Inborn genetic diseases [RCV002761820]	Chr19:18786569 [GRCh38] Chr19:18897379 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1898C>T (p.Pro633Leu)	single nucleotide variant	not provided [RCV003019332]	Chr19:18784912 [GRCh38] Chr19:18895722 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.498G>C (p.Val166=)	single nucleotide variant	not provided [RCV003057146]	Chr19:18789190 [GRCh38] Chr19:18899999 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.71G>A (p.Ser24Asn)	single nucleotide variant	not provided [RCV002597356]	Chr19:18791199 [GRCh38] Chr19:18902008 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2227+13C>T	single nucleotide variant	not provided [RCV002667794]	Chr19:18783041 [GRCh38] Chr19:18893851 [GRCh37] Chr19:19p13.11	likely benign\|uncertain significance
NM_000095.3(COMP):c.2088-2_2088-1del	deletion	not provided [RCV002575725]	Chr19:18783194..18783195 [GRCh38] Chr19:18894004..18894005 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.818A>G (p.Asp273Gly)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV002790043]	Chr19:18788459 [GRCh38] Chr19:18899268 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.54G>T (p.Ala18=)	single nucleotide variant	not provided [RCV002958800]	Chr19:18791216 [GRCh38] Chr19:18902025 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.166-9C>G	single nucleotide variant	not provided [RCV003059331]	Chr19:18790622 [GRCh38] Chr19:18901431 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.268C>G (p.His90Asp)	single nucleotide variant	Inborn genetic diseases [RCV002712505]	Chr19:18790064 [GRCh38] Chr19:18900873 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2089G>A (p.Val697Met)	single nucleotide variant	not provided [RCV003056078]	Chr19:18783192 [GRCh38] Chr19:18894002 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1464T>C (p.Pro488=)	single nucleotide variant	not provided [RCV002663574]	Chr19:18785990 [GRCh38] Chr19:18896800 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2090T>C (p.Val697Ala)	single nucleotide variant	not provided [RCV002574930]	Chr19:18783191 [GRCh38] Chr19:18894001 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.528G>T (p.Gln176His)	single nucleotide variant	not provided [RCV002626948]	Chr19:18789160 [GRCh38] Chr19:18899969 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1233C>G (p.Pro411=)	single nucleotide variant	not provided [RCV002602828]	Chr19:18786553 [GRCh38] Chr19:18897363 [GRCh37] Chr19:19p13.11	benign
NM_000095.3(COMP):c.503T>C (p.Leu168Pro)	single nucleotide variant	not provided [RCV003065308]	Chr19:18789185 [GRCh38] Chr19:18899994 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.704G>A (p.Ser235Asn)	single nucleotide variant	not provided [RCV003031823]	Chr19:18788650 [GRCh38] Chr19:18899459 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.955del (p.Asp319fs)	deletion	not provided [RCV003031922]	Chr19:18788232 [GRCh38] Chr19:18899041 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.992T>C (p.Val331Ala)	single nucleotide variant	not provided [RCV002720649]	Chr19:18787634 [GRCh38] Chr19:18898443 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1136-14G>A	single nucleotide variant	not provided [RCV002630352]	Chr19:18786664 [GRCh38] Chr19:18897474 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2232C>A (p.Thr744=)	single nucleotide variant	not provided [RCV002811093]	Chr19:18782957 [GRCh38] Chr19:18893767 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1511G>A (p.Cys504Tyr)	single nucleotide variant	not provided [RCV003064568]	Chr19:18785830 [GRCh38] Chr19:18896640 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.1255-18G>A	single nucleotide variant	not provided [RCV002576546]	Chr19:18786309 [GRCh38] Chr19:18897119 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2047C>T (p.Arg683Cys)	single nucleotide variant	not provided [RCV002577297]	Chr19:18784231 [GRCh38] Chr19:18895041 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.811G>A (p.Asp271Asn)	single nucleotide variant	not provided [RCV003028409]	Chr19:18788466 [GRCh38] Chr19:18899275 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1052G>A (p.Cys351Tyr)	single nucleotide variant	not provided [RCV003064570]	Chr19:18787574 [GRCh38] Chr19:18898383 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.958G>A (p.Gly320Arg)	single nucleotide variant	Inborn genetic diseases [RCV002718150]	Chr19:18788229 [GRCh38] Chr19:18899038 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1969A>G (p.Thr657Ala)	single nucleotide variant	not provided [RCV003048536]	Chr19:18784309 [GRCh38] Chr19:18895119 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.768C>G (p.Ala256=)	single nucleotide variant	not provided [RCV002580356]\|not specified [RCV005239453]	Chr19:18788509 [GRCh38] Chr19:18899318 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.303C>G (p.Ala101=)	single nucleotide variant	not provided [RCV003046860]	Chr19:18790029 [GRCh38] Chr19:18900838 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.471G>T (p.Gly157=)	single nucleotide variant	not provided [RCV002602156]	Chr19:18789217 [GRCh38] Chr19:18900026 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.786C>G (p.Asn262Lys)	single nucleotide variant	Inborn genetic diseases [RCV002965335]	Chr19:18788491 [GRCh38] Chr19:18899300 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.889_890del (p.Asn297fs)	deletion	not provided [RCV002720072]	Chr19:18788297..18788298 [GRCh38] Chr19:18899106..18899107 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.489C>T (p.His163=)	single nucleotide variant	not provided [RCV003086744]	Chr19:18789199 [GRCh38] Chr19:18900008 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1049A>C (p.Asn350Thr)	single nucleotide variant	not provided [RCV003026553]	Chr19:18787577 [GRCh38] Chr19:18898386 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.920G>A (p.Gly307Asp)	single nucleotide variant	Inborn genetic diseases [RCV002831576]	Chr19:18788267 [GRCh38] Chr19:18899076 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1372G>T (p.Asp458Tyr)	single nucleotide variant	not provided [RCV003064569]	Chr19:18786082 [GRCh38] Chr19:18896892 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1104C>A (p.Gly368=)	single nucleotide variant	not provided [RCV002630596]	Chr19:18787522 [GRCh38] Chr19:18898331 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1962G>A (p.Leu654=)	single nucleotide variant	not provided [RCV002581673]	Chr19:18784316 [GRCh38] Chr19:18895126 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1863T>C (p.Tyr621=)	single nucleotide variant	not provided [RCV002722128]	Chr19:18784947 [GRCh38] Chr19:18895757 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.780C>G (p.Ala260=)	single nucleotide variant	not provided [RCV002721811]	Chr19:18788497 [GRCh38] Chr19:18899306 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1552G>A (p.Asp518Asn)	single nucleotide variant	not provided [RCV003050532]	Chr19:18785789 [GRCh38] Chr19:18896599 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic
NM_000095.3(COMP):c.201G>A (p.Met67Ile)	single nucleotide variant	Inborn genetic diseases [RCV004978626]\|not provided [RCV002582424]	Chr19:18790578 [GRCh38] Chr19:18901387 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.218-9C>T	single nucleotide variant	not provided [RCV002721489]	Chr19:18790123 [GRCh38] Chr19:18900932 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1952G>A (p.Arg651Gln)	single nucleotide variant	not provided [RCV002608754]	Chr19:18784326 [GRCh38] Chr19:18895136 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.356C>T (p.Thr119Met)	single nucleotide variant	not provided [RCV002608812]	Chr19:18789976 [GRCh38] Chr19:18900785 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2212C>T (p.Arg738Cys)	single nucleotide variant	not provided [RCV002586302]	Chr19:18783069 [GRCh38] Chr19:18893879 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1893C>T (p.Ala631=)	single nucleotide variant	not provided [RCV002586675]	Chr19:18784917 [GRCh38] Chr19:18895727 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.112C>T (p.Leu38=)	single nucleotide variant	not provided [RCV002589204]	Chr19:18790903 [GRCh38] Chr19:18901712 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1423G>A (p.Asp475Asn)	single nucleotide variant	not provided [RCV003050533]	Chr19:18786031 [GRCh38] Chr19:18896841 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.868G>A (p.Asp290Asn)	single nucleotide variant	not provided [RCV003050534]	Chr19:18788319 [GRCh38] Chr19:18899128 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1850T>C (p.Met617Thr)	single nucleotide variant	not provided [RCV002610311]	Chr19:18784960 [GRCh38] Chr19:18895770 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1526A>C (p.Asp509Ala)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV004795859]	Chr19:18785815 [GRCh38] Chr19:18896625 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1520A>C (p.Asp507Ala)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV004796586]	Chr19:18785821 [GRCh38] Chr19:18896631 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2028G>C (p.Trp676Cys)	single nucleotide variant	not provided [RCV004777342]	Chr19:18784250 [GRCh38] Chr19:18895060 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.452G>A (p.Cys151Tyr)	single nucleotide variant	not provided [RCV003145856]	Chr19:18789236 [GRCh38] Chr19:18900045 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1888G>A (p.Val630Met)	single nucleotide variant	Inborn genetic diseases [RCV003214682]\|not provided [RCV005061090]	Chr19:18784922 [GRCh38] Chr19:18895732 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1527_1529del (p.Asp509_Ala510delinsGlu)	deletion	not provided [RCV003222977]	Chr19:18785812..18785814 [GRCh38] Chr19:18896622..18896624 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.983G>A (p.Cys328Tyr)	single nucleotide variant	not provided [RCV003145857]	Chr19:18787643 [GRCh38] Chr19:18898452 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1285_1286dup (p.Cys430fs)	duplication	Multiple epiphyseal dysplasia type 1 [RCV003142306]	Chr19:18786259..18786260 [GRCh38] Chr19:18897069..18897070 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1097G>A (p.Gly366Asp)	single nucleotide variant	Inborn genetic diseases [RCV003208868]	Chr19:18787529 [GRCh38] Chr19:18898338 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.644G>A (p.Gly215Asp)	single nucleotide variant	Inborn genetic diseases [RCV003200709]\|not provided [RCV003779720]	Chr19:18788710 [GRCh38] Chr19:18899519 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1280G>C (p.Gly427Ala)	single nucleotide variant	not provided [RCV003325689]	Chr19:18786266 [GRCh38] Chr19:18897076 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic
NM_000095.3(COMP):c.414C>G (p.Pro138=)	single nucleotide variant	not provided [RCV003569791]	Chr19:18789274 [GRCh38] Chr19:18900083 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1069_1070delinsTT (p.Asp357Phe)	indel	not provided [RCV003543695]	Chr19:18787556..18787557 [GRCh38] Chr19:18898365..18898366 [GRCh37] Chr19:19p13.11	likely pathogenic\|uncertain significance
NM_000095.3(COMP):c.1723A>T (p.Thr575Ser)	single nucleotide variant	not provided [RCV003571406]	Chr19:18785087 [GRCh38] Chr19:18895897 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1014C>T (p.Asn338=)	single nucleotide variant	not provided [RCV003873256]	Chr19:18787612 [GRCh38] Chr19:18898421 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.950A>G (p.Asp317Gly)	single nucleotide variant	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [RCV003480544]\|not provided [RCV003553996]	Chr19:18788237 [GRCh38] Chr19:18899046 [GRCh37] Chr19:19p13.11	likely pathogenic\|uncertain significance
NM_000095.3(COMP):c.75G>T (p.Pro25=)	single nucleotide variant	not provided [RCV003570685]	Chr19:18791195 [GRCh38] Chr19:18902004 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2230A>T (p.Thr744Ser)	single nucleotide variant	not provided [RCV003874711]\|not specified [RCV004587579]	Chr19:18782959 [GRCh38] Chr19:18893769 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.948C>T (p.Ala316=)	single nucleotide variant	not provided [RCV003874719]	Chr19:18788239 [GRCh38] Chr19:18899048 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.529-5C>T	single nucleotide variant	not provided [RCV003875213]	Chr19:18788918 [GRCh38] Chr19:18899727 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1317C>A (p.Asp439Glu)	single nucleotide variant	COMP-related disorder [RCV003404620]\|not provided [RCV005104339]	Chr19:18786137 [GRCh38] Chr19:18896947 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic
NM_000095.3(COMP):c.2155G>C (p.Gly719Arg)	single nucleotide variant	not provided [RCV004778224]	Chr19:18783126 [GRCh38] Chr19:18893936 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1967A>G (p.His656Arg)	single nucleotide variant	not provided [RCV003691342]	Chr19:18784311 [GRCh38] Chr19:18895121 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1718-4C>T	single nucleotide variant	not provided [RCV003423459]	Chr19:18785096 [GRCh38] Chr19:18895906 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1384G>T (p.Asp462Tyr)	single nucleotide variant	COMP-related disorder [RCV003397724]	Chr19:18786070 [GRCh38] Chr19:18896880 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1124T>C (p.Ile375Thr)	single nucleotide variant	not provided [RCV003415155]	Chr19:18787502 [GRCh38] Chr19:18898311 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.403C>T (p.Pro135Ser)	single nucleotide variant	not provided [RCV003827772]	Chr19:18789285 [GRCh38] Chr19:18900094 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.192C>T (p.Asn64=)	single nucleotide variant	not provided [RCV003694216]	Chr19:18790587 [GRCh38] Chr19:18901396 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1590C>T (p.Asp530=)	single nucleotide variant	not provided [RCV003576392]	Chr19:18785751 [GRCh38] Chr19:18896561 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.975+13C>A	single nucleotide variant	not provided [RCV003881889]	Chr19:18788199 [GRCh38] Chr19:18899008 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1310A>T (p.Asp437Val)	single nucleotide variant	not provided [RCV003686945]	Chr19:18786144 [GRCh38] Chr19:18896954 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.258G>A (p.Arg86=)	single nucleotide variant	not provided [RCV003716686]	Chr19:18790074 [GRCh38] Chr19:18900883 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1123_1134del (p.Ile375_Asp378del)	deletion	not provided [RCV003690084]	Chr19:18787492..18787503 [GRCh38] Chr19:18898301..18898312 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1135+20G>T	single nucleotide variant	not provided [RCV003830308]	Chr19:18787471 [GRCh38] Chr19:18898280 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1436A>T (p.Asp479Val)	single nucleotide variant	not provided [RCV003578208]	Chr19:18786018 [GRCh38] Chr19:18896828 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.805G>C (p.Asp269His)	single nucleotide variant	not provided [RCV003715959]	Chr19:18788472 [GRCh38] Chr19:18899281 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1153G>C (p.Asp385His)	single nucleotide variant	not provided [RCV003546353]	Chr19:18786633 [GRCh38] Chr19:18897443 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1982_1983del (p.Glu661fs)	microsatellite	not provided [RCV003882503]	Chr19:18784295..18784296 [GRCh38] Chr19:18895105..18895106 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1982A>G (p.Glu661Gly)	single nucleotide variant	not provided [RCV003713600]	Chr19:18784296 [GRCh38] Chr19:18895106 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.257G>A (p.Arg86Gln)	single nucleotide variant	not provided [RCV003690399]	Chr19:18790075 [GRCh38] Chr19:18900884 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2048G>T (p.Arg683Leu)	single nucleotide variant	not specified [RCV003494232]	Chr19:18784230 [GRCh38] Chr19:18895040 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1914G>C (p.Lys638Asn)	single nucleotide variant	not provided [RCV003574592]	Chr19:18784896 [GRCh38] Chr19:18895706 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1929C>T (p.Ser643=)	single nucleotide variant	not provided [RCV003716597]	Chr19:18784349 [GRCh38] Chr19:18895159 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.238A>G (p.Thr80Ala)	single nucleotide variant	not provided [RCV003544877]	Chr19:18790094 [GRCh38] Chr19:18900903 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.114G>T (p.Leu38=)	single nucleotide variant	not provided [RCV003575445]	Chr19:18790901 [GRCh38] Chr19:18901710 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1254+19C>T	single nucleotide variant	not provided [RCV003881797]	Chr19:18786513 [GRCh38] Chr19:18897323 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1877C>T (p.Pro626Leu)	single nucleotide variant	not provided [RCV003715474]	Chr19:18784933 [GRCh38] Chr19:18895743 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1718-18C>G	single nucleotide variant	not provided [RCV003850171]	Chr19:18785110 [GRCh38] Chr19:18895920 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.391-3C>T	single nucleotide variant	not provided [RCV003664363]	Chr19:18789300 [GRCh38] Chr19:18900109 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.180G>T (p.Thr60=)	single nucleotide variant	not provided [RCV003699806]	Chr19:18790599 [GRCh38] Chr19:18901408 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.261C>T (p.Pro87=)	single nucleotide variant	not provided [RCV003664459]	Chr19:18790071 [GRCh38] Chr19:18900880 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1373A>G (p.Asp458Gly)	single nucleotide variant	not provided [RCV003550146]	Chr19:18786081 [GRCh38] Chr19:18896891 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.603+11C>T	single nucleotide variant	not provided [RCV005170571]	Chr19:18788828 [GRCh38] Chr19:18899637 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.79+19C>T	single nucleotide variant	not provided [RCV003697404]	Chr19:18791172 [GRCh38] Chr19:18901981 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.594C>T (p.Ile198=)	single nucleotide variant	not provided [RCV003559612]	Chr19:18788848 [GRCh38] Chr19:18899657 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.603+14G>A	single nucleotide variant	not provided [RCV003811257]	Chr19:18788825 [GRCh38] Chr19:18899634 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.686G>A (p.Cys229Tyr)	single nucleotide variant	COMP-related disorder [RCV003909125]\|not provided [RCV003726801]	Chr19:18788668 [GRCh38] Chr19:18899477 [GRCh37] Chr19:19p13.11	benign\|likely benign
NM_000095.3(COMP):c.886C>G (p.Pro296Ala)	single nucleotide variant	not provided [RCV003831964]	Chr19:18788301 [GRCh38] Chr19:18899110 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2264G>A (p.Arg755Gln)	single nucleotide variant	not provided [RCV003856765]	Chr19:18782925 [GRCh38] Chr19:18893735 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1420_1425dup (p.Asp475_Gly476insAsnAsp)	duplication	not provided [RCV003560100]	Chr19:18786028..18786029 [GRCh38] Chr19:18896838..18896839 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1141C>G (p.Arg381Gly)	single nucleotide variant	not provided [RCV003726182]	Chr19:18786645 [GRCh38] Chr19:18897455 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1413C>T (p.Asp471=)	single nucleotide variant	not provided [RCV003561612]	Chr19:18786041 [GRCh38] Chr19:18896851 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1854G>C (p.Glu618Asp)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV004006237]	Chr19:18784956 [GRCh38] Chr19:18895766 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.341G>C (p.Cys114Ser)	single nucleotide variant	Inborn genetic diseases [RCV004437769]	Chr19:18789991 [GRCh38] Chr19:18900800 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.679C>A (p.Arg227Ser)	single nucleotide variant	Inborn genetic diseases [RCV004437771]	Chr19:18788675 [GRCh38] Chr19:18899484 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1476GGA[1] (p.Glu493del)	microsatellite	not provided [RCV003856042]	Chr19:18785973..18785975 [GRCh38] Chr19:18896783..18896785 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.867+20G>C	single nucleotide variant	not provided [RCV003813920]	Chr19:18788390 [GRCh38] Chr19:18899199 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.165+17C>T	single nucleotide variant	not provided [RCV003815903]	Chr19:18790833 [GRCh38] Chr19:18901642 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.142G>A (p.Val48Met)	single nucleotide variant	not provided [RCV003838831]	Chr19:18790873 [GRCh38] Chr19:18901682 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.374G>A (p.Cys125Tyr)	single nucleotide variant	not provided [RCV003669889]	Chr19:18789958 [GRCh38] Chr19:18900767 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1220G>A (p.Cys407Tyr)	single nucleotide variant	not provided [RCV003560101]	Chr19:18786566 [GRCh38] Chr19:18897376 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.1760A>T (p.His587Leu)	single nucleotide variant	not provided [RCV003557912]	Chr19:18785050 [GRCh38] Chr19:18895860 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.827C>G (p.Pro276Arg)	single nucleotide variant	not provided [RCV003560103]	Chr19:18788450 [GRCh38] Chr19:18899259 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic
NM_000095.3(COMP):c.537G>A (p.Thr179=)	single nucleotide variant	not provided [RCV003855310]	Chr19:18788905 [GRCh38] Chr19:18899714 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1308-18C>T	single nucleotide variant	not provided [RCV003814421]	Chr19:18786164 [GRCh38] Chr19:18896974 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1136-17C>T	single nucleotide variant	not provided [RCV003697570]	Chr19:18786667 [GRCh38] Chr19:18897477 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1989G>C (p.Gln663His)	single nucleotide variant	not provided [RCV003725535]	Chr19:18784289 [GRCh38] Chr19:18895099 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1731C>T (p.Phe577=)	single nucleotide variant	not provided [RCV003840253]	Chr19:18785079 [GRCh38] Chr19:18895889 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1951C>T (p.Arg651Trp)	single nucleotide variant	not provided [RCV003671537]	Chr19:18784327 [GRCh38] Chr19:18895137 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.80-5C>T	single nucleotide variant	not provided [RCV003671622]	Chr19:18790940 [GRCh38] Chr19:18901749 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.731T>C (p.Val244Ala)	single nucleotide variant	not provided [RCV003549453]	Chr19:18788623 [GRCh38] Chr19:18899432 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2048G>C (p.Arg683Pro)	single nucleotide variant	not provided [RCV003672294]	Chr19:18784230 [GRCh38] Chr19:18895040 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.739C>A (p.Arg247Ser)	single nucleotide variant	not provided [RCV003816603]	Chr19:18788615 [GRCh38] Chr19:18899424 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1470C>G (p.Pro490=)	single nucleotide variant	not provided [RCV003724886]	Chr19:18785984 [GRCh38] Chr19:18896794 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2073A>G (p.Gln691=)	single nucleotide variant	not provided [RCV003701924]	Chr19:18784205 [GRCh38] Chr19:18895015 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1544A>G (p.Asp515Gly)	single nucleotide variant	not provided [RCV003560098]	Chr19:18785797 [GRCh38] Chr19:18896607 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.2130C>T (p.Asn710=)	single nucleotide variant	not provided [RCV003837846]	Chr19:18783151 [GRCh38] Chr19:18893961 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1519G>A (p.Asp507Asn)	single nucleotide variant	Inborn genetic diseases [RCV004614467]\|not provided [RCV003560099]	Chr19:18785822 [GRCh38] Chr19:18896632 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.495C>T (p.Gly165=)	single nucleotide variant	not provided [RCV003811514]	Chr19:18789193 [GRCh38] Chr19:18900002 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2019C>T (p.Asn673=)	single nucleotide variant	not provided [RCV003816275]	Chr19:18784259 [GRCh38] Chr19:18895069 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.848C>G (p.Pro283Arg)	single nucleotide variant	not provided [RCV003668724]	Chr19:18788429 [GRCh38] Chr19:18899238 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1100G>A (p.Arg367Gln)	single nucleotide variant	not provided [RCV003702227]	Chr19:18787526 [GRCh38] Chr19:18898335 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1489+8G>A	single nucleotide variant	not provided [RCV003841343]	Chr19:18785957 [GRCh38] Chr19:18896767 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1149G>A (p.Gln383=)	single nucleotide variant	not provided [RCV003819023]	Chr19:18786637 [GRCh38] Chr19:18897447 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.688C>T (p.Pro230Ser)	single nucleotide variant	not provided [RCV003710978]	Chr19:18788666 [GRCh38] Chr19:18899475 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1632C>G (p.Asp544Glu)	single nucleotide variant	not provided [RCV003857740]	Chr19:18785709 [GRCh38] Chr19:18896519 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1127A>G (p.Asp376Gly)	single nucleotide variant	not provided [RCV003704271]	Chr19:18787499 [GRCh38] Chr19:18898308 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1031G>C (p.Trp344Ser)	single nucleotide variant	not provided [RCV003708243]	Chr19:18787595 [GRCh38] Chr19:18898404 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1142G>A (p.Arg381His)	single nucleotide variant	not provided [RCV003734958]	Chr19:18786644 [GRCh38] Chr19:18897454 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1402T>C (p.Cys468Arg)	single nucleotide variant	not provided [RCV003704673]	Chr19:18786052 [GRCh38] Chr19:18896862 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.1384G>A (p.Asp462Asn)	single nucleotide variant	not provided [RCV003822304]	Chr19:18786070 [GRCh38] Chr19:18896880 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2228-12C>T	single nucleotide variant	not provided [RCV003682566]	Chr19:18782973 [GRCh38] Chr19:18893783 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1668+20G>C	single nucleotide variant	not provided [RCV003867109]	Chr19:18785653 [GRCh38] Chr19:18896463 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.339C>G (p.Pro113=)	single nucleotide variant	not provided [RCV003870515]	Chr19:18789993 [GRCh38] Chr19:18900802 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.474C>T (p.Tyr158=)	single nucleotide variant	not provided [RCV003674533]	Chr19:18789214 [GRCh38] Chr19:18900023 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1649A>G (p.Asn550Ser)	single nucleotide variant	not provided [RCV003684234]	Chr19:18785692 [GRCh38] Chr19:18896502 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1363G>A (p.Ala455Thr)	single nucleotide variant	not provided [RCV003867426]	Chr19:18786091 [GRCh38] Chr19:18896901 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1939G>A (p.Gly647Arg)	single nucleotide variant	not provided [RCV003818339]	Chr19:18784339 [GRCh38] Chr19:18895149 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.218-4G>T	single nucleotide variant	not provided [RCV003847677]\|not specified [RCV004690489]	Chr19:18790118 [GRCh38] Chr19:18900927 [GRCh37] Chr19:19p13.11	likely benign\|uncertain significance
NM_000095.3(COMP):c.831C>G (p.Asp277Glu)	single nucleotide variant	not provided [RCV003841052]	Chr19:18788446 [GRCh38] Chr19:18899255 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.132G>A (p.Ala44=)	single nucleotide variant	not provided [RCV003719923]	Chr19:18790883 [GRCh38] Chr19:18901692 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1104C>T (p.Gly368=)	single nucleotide variant	not provided [RCV003823498]	Chr19:18787522 [GRCh38] Chr19:18898331 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1254G>T (p.Gln418His)	single nucleotide variant	not provided [RCV003720501]	Chr19:18786532 [GRCh38] Chr19:18897342 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1451G>T (p.Cys484Phe)	single nucleotide variant	not provided [RCV003718978]	Chr19:18786003 [GRCh38] Chr19:18896813 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.769G>A (p.Val257Ile)	single nucleotide variant	Inborn genetic diseases [RCV004614563]\|not provided [RCV003867244]	Chr19:18788508 [GRCh38] Chr19:18899317 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.529-27_529-4del	deletion	not provided [RCV003867346]	Chr19:18788917..18788940 [GRCh38] Chr19:18899726..18899749 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1256C>T (p.Ala419Val)	single nucleotide variant	not provided [RCV003711930]	Chr19:18786290 [GRCh38] Chr19:18897100 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1167G>T (p.Arg389Ser)	single nucleotide variant	not provided [RCV003721420]	Chr19:18786619 [GRCh38] Chr19:18897429 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1491G>A (p.Arg497=)	single nucleotide variant	not provided [RCV003870008]	Chr19:18785850 [GRCh38] Chr19:18896660 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1055G>A (p.Arg352Gln)	single nucleotide variant	not provided [RCV003821355]	Chr19:18787571 [GRCh38] Chr19:18898380 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1065G>A (p.Lys355=)	single nucleotide variant	not provided [RCV003823502]	Chr19:18787561 [GRCh38] Chr19:18898370 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.315G>A (p.Thr105=)	single nucleotide variant	not provided [RCV003684577]	Chr19:18790017 [GRCh38] Chr19:18900826 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1828dup (p.Tyr610fs)	duplication	not provided [RCV003711810]	Chr19:18784981..18784982 [GRCh38] Chr19:18895791..18895792 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1342T>G (p.Cys448Gly)	single nucleotide variant	not provided [RCV003567706]	Chr19:18786112 [GRCh38] Chr19:18896922 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.842G>A (p.Arg281His)	single nucleotide variant	not provided [RCV003542692]	Chr19:18788435 [GRCh38] Chr19:18899244 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1211G>A (p.Gly404Glu)	single nucleotide variant	not provided [RCV003550412]	Chr19:18786575 [GRCh38] Chr19:18897385 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2047C>G (p.Arg683Gly)	single nucleotide variant	not provided [RCV003861032]	Chr19:18784231 [GRCh38] Chr19:18895041 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.832G>C (p.Glu278Gln)	single nucleotide variant	not provided [RCV003729771]	Chr19:18788445 [GRCh38] Chr19:18899254 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.867+13G>A	single nucleotide variant	not provided [RCV003727413]	Chr19:18788397 [GRCh38] Chr19:18899206 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2227+7C>T	single nucleotide variant	not provided [RCV003727372]	Chr19:18783047 [GRCh38] Chr19:18893857 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.654G>T (p.Ala218=)	single nucleotide variant	not provided [RCV003820323]	Chr19:18788700 [GRCh38] Chr19:18899509 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1560_1573del (p.Cys520_Glu525delinsTer)	deletion	not provided [RCV003562908]	Chr19:18785768..18785781 [GRCh38] Chr19:18896578..18896591 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1775C>T (p.Thr592Met)	single nucleotide variant	not provided [RCV003718607]	Chr19:18785035 [GRCh38] Chr19:18895845 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1072G>C (p.Asp358His)	single nucleotide variant	Inborn genetic diseases [RCV004437761]	Chr19:18787554 [GRCh38] Chr19:18898363 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1142G>T (p.Arg381Leu)	single nucleotide variant	Inborn genetic diseases [RCV004437762]\|not provided [RCV005065094]	Chr19:18786644 [GRCh38] Chr19:18897454 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1586C>A (p.Thr529Asn)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV003990350]	Chr19:18785755 [GRCh38] Chr19:18896565 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.1619A>T (p.Asp540Val)	single nucleotide variant	Inborn genetic diseases [RCV004437766]	Chr19:18785722 [GRCh38] Chr19:18896532 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1771G>A (p.Val591Ile)	single nucleotide variant	Inborn genetic diseases [RCV004437768]	Chr19:18785039 [GRCh38] Chr19:18895849 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1587C>T (p.Thr529=)	single nucleotide variant	COMP-related disorder [RCV003924154]	Chr19:18785754 [GRCh38] Chr19:18896564 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1303G>C (p.Asp435His)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV004006238]	Chr19:18786243 [GRCh38] Chr19:18897053 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.964C>T (p.Pro322Ser)	single nucleotide variant	COMP-related disorder [RCV003914528]	Chr19:18788223 [GRCh38] Chr19:18899032 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1411G>C (p.Asp471His)	single nucleotide variant	COMP-related disorder [RCV003894158]\|not provided [RCV005101548]	Chr19:18786043 [GRCh38] Chr19:18896853 [GRCh37] Chr19:19p13.11	likely pathogenic\|uncertain significance
NM_000095.3(COMP):c.1334G>C (p.Arg445Pro)	single nucleotide variant	Inborn genetic diseases [RCV004437764]	Chr19:18786120 [GRCh38] Chr19:18896930 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1555G>A (p.Val519Met)	single nucleotide variant	Inborn genetic diseases [RCV004437765]	Chr19:18785786 [GRCh38] Chr19:18896596 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.412C>T (p.Pro138Ser)	single nucleotide variant	Inborn genetic diseases [RCV004437770]	Chr19:18789276 [GRCh38] Chr19:18900085 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1246C>T (p.Pro416Ser)	single nucleotide variant	Inborn genetic diseases [RCV004437763]\|not provided [RCV005104625]	Chr19:18786540 [GRCh38] Chr19:18897350 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2151G>T (p.Met717Ile)	single nucleotide variant	COMP-related disorder [RCV004755531]	Chr19:18783130 [GRCh38] Chr19:18893940 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1359del (p.Asn453fs)	deletion	Multiple epiphyseal dysplasia type 1 [RCV004720412]	Chr19:18786095 [GRCh38] Chr19:18896905 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.1213G>A (p.Asp405Asn)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV003991346]	Chr19:18786573 [GRCh38] Chr19:18897383 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1490-1G>A	single nucleotide variant	not provided [RCV004780988]	Chr19:18785852 [GRCh38] Chr19:18896662 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1490-1G>C	single nucleotide variant	not provided [RCV004768351]	Chr19:18785852 [GRCh38] Chr19:18896662 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.517del (p.Ala173fs)	deletion	not provided [RCV004772212]	Chr19:18789171 [GRCh38] Chr19:18899980 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.48C>T (p.Leu16=)	single nucleotide variant	COMP-related disorder [RCV004755268]	Chr19:18791222 [GRCh38] Chr19:18902031 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1820C>G (p.Ser607Cys)	single nucleotide variant	COMP-related disorder [RCV004732231]	Chr19:18784990 [GRCh38] Chr19:18895800 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.752G>A (p.Arg251Gln)	single nucleotide variant	Inborn genetic diseases [RCV004979030]	Chr19:18788602 [GRCh38] Chr19:18899411 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.442G>A (p.Gly148Arg)	single nucleotide variant	Inborn genetic diseases [RCV004979031]	Chr19:18789246 [GRCh38] Chr19:18900055 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.380A>T (p.Asp127Val)	single nucleotide variant	Inborn genetic diseases [RCV004979033]	Chr19:18789952 [GRCh38] Chr19:18900761 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1848G>C (p.Gln616His)	single nucleotide variant	Multiple epiphyseal dysplasia type 1 [RCV005026436]	Chr19:18784962 [GRCh38] Chr19:18895772 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.881C>A (p.Thr294Asn)	single nucleotide variant	Inborn genetic diseases [RCV004979036]\|not provided [RCV005061680]	Chr19:18788306 [GRCh38] Chr19:18899115 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1636C>A (p.Gln546Lys)	single nucleotide variant	Inborn genetic diseases [RCV004979034]	Chr19:18785705 [GRCh38] Chr19:18896515 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.698C>T (p.Ser233Leu)	single nucleotide variant	Inborn genetic diseases [RCV004979032]	Chr19:18788656 [GRCh38] Chr19:18899465 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.527A>T (p.Gln176Leu)	single nucleotide variant	Inborn genetic diseases [RCV004979035]	Chr19:18789161 [GRCh38] Chr19:18899970 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2188_2190del (p.Glu730del)	deletion	not provided [RCV005175547]	Chr19:18783091..18783093 [GRCh38] Chr19:18893901..18893903 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.123C>A (p.Thr41=)	single nucleotide variant	not provided [RCV005060757]	Chr19:18790892 [GRCh38] Chr19:18901701 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.113T>C (p.Leu38Pro)	single nucleotide variant	not provided [RCV005147557]	Chr19:18790902 [GRCh38] Chr19:18901711 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.653C>T (p.Ala218Val)	single nucleotide variant	not provided [RCV005175301]	Chr19:18788701 [GRCh38] Chr19:18899510 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.166-13C>T	single nucleotide variant	not provided [RCV005147015]	Chr19:18790626 [GRCh38] Chr19:18901435 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2227+19G>A	single nucleotide variant	not provided [RCV005088798]	Chr19:18783035 [GRCh38] Chr19:18893845 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2066G>T (p.Arg689Leu)	single nucleotide variant	not provided [RCV005170000]	Chr19:18784212 [GRCh38] Chr19:18895022 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.218-7C>A	single nucleotide variant	not provided [RCV005064030]	Chr19:18790121 [GRCh38] Chr19:18900930 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1109C>T (p.Ala370Val)	single nucleotide variant	not provided [RCV005089070]	Chr19:18787517 [GRCh38] Chr19:18898326 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.604-16G>C	single nucleotide variant	not provided [RCV005087843]	Chr19:18788766 [GRCh38] Chr19:18899575 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.803G>A (p.Arg268His)	single nucleotide variant	not provided [RCV005085820]	Chr19:18788474 [GRCh38] Chr19:18899283 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.165+20G>A	single nucleotide variant	not provided [RCV005060489]	Chr19:18790830 [GRCh38] Chr19:18901639 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2228-13C>T	single nucleotide variant	not provided [RCV005086581]	Chr19:18782974 [GRCh38] Chr19:18893784 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2066G>A (p.Arg689Gln)	single nucleotide variant	not provided [RCV005085699]	Chr19:18784212 [GRCh38] Chr19:18895022 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.994C>T (p.Arg332Trp)	single nucleotide variant	not provided [RCV005066392]	Chr19:18787632 [GRCh38] Chr19:18898441 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2087+4G>A	single nucleotide variant	not provided [RCV005060123]	Chr19:18784187 [GRCh38] Chr19:18894997 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.165+12G>A	single nucleotide variant	not provided [RCV005062148]	Chr19:18790838 [GRCh38] Chr19:18901647 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1518C>G (p.Asp506Glu)	single nucleotide variant	not provided [RCV005060015]	Chr19:18785823 [GRCh38] Chr19:18896633 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2153G>A (p.Arg718Gln)	single nucleotide variant	not provided [RCV005183673]	Chr19:18783128 [GRCh38] Chr19:18893938 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1135+11T>C	single nucleotide variant	not provided [RCV005079209]	Chr19:18787480 [GRCh38] Chr19:18898289 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.868-9C>T	single nucleotide variant	not provided [RCV005152208]	Chr19:18788328 [GRCh38] Chr19:18899137 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1159T>C (p.Cys387Arg)	single nucleotide variant	not provided [RCV005203866]	Chr19:18786627 [GRCh38] Chr19:18897437 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.2150T>C (p.Met717Thr)	single nucleotide variant	not provided [RCV005137066]	Chr19:18783131 [GRCh38] Chr19:18893941 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1970C>G (p.Thr657Arg)	single nucleotide variant	not provided [RCV005159539]	Chr19:18784308 [GRCh38] Chr19:18895118 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1443G>A (p.Arg481=)	single nucleotide variant	not provided [RCV005070546]	Chr19:18786011 [GRCh38] Chr19:18896821 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1490-8C>T	single nucleotide variant	not provided [RCV005188825]	Chr19:18785859 [GRCh38] Chr19:18896669 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.900G>A (p.Gln300=)	single nucleotide variant	not provided [RCV005081073]	Chr19:18788287 [GRCh38] Chr19:18899096 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.390+16C>T	single nucleotide variant	not provided [RCV005140619]	Chr19:18789926 [GRCh38] Chr19:18900735 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.867G>A (p.Lys289=)	single nucleotide variant	not provided [RCV005070869]	Chr19:18788410 [GRCh38] Chr19:18899219 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1469C>T (p.Pro490Leu)	single nucleotide variant	not provided [RCV005165509]	Chr19:18785985 [GRCh38] Chr19:18896795 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1316A>C (p.Asp439Ala)	single nucleotide variant	not provided [RCV005194934]	Chr19:18786138 [GRCh38] Chr19:18896948 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.166-19T>C	single nucleotide variant	not provided [RCV005083367]	Chr19:18790632 [GRCh38] Chr19:18901441 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1163C>T (p.Pro388Leu)	single nucleotide variant	not provided [RCV005180084]	Chr19:18786623 [GRCh38] Chr19:18897433 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.825C>A (p.Phe275Leu)	single nucleotide variant	not provided [RCV005182341]	Chr19:18788452 [GRCh38] Chr19:18899261 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1005C>T (p.Asp335=)	single nucleotide variant	not provided [RCV005139020]	Chr19:18787621 [GRCh38] Chr19:18898430 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.976-14_976-13insGGACAACTGCC	insertion	not provided [RCV005124132]	Chr19:18787663..18787664 [GRCh38] Chr19:18898472..18898473 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.357G>T (p.Thr119=)	single nucleotide variant	not provided [RCV005111347]	Chr19:18789975 [GRCh38] Chr19:18900784 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2163C>G (p.Arg721=)	single nucleotide variant	not provided [RCV005138092]	Chr19:18783118 [GRCh38] Chr19:18893928 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1450T>A (p.Cys484Ser)	single nucleotide variant	not provided [RCV005236087]	Chr19:18786004 [GRCh38] Chr19:18896814 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.218-4G>A	single nucleotide variant	not provided [RCV005157005]	Chr19:18790118 [GRCh38] Chr19:18900927 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.402C>T (p.His134=)	single nucleotide variant	not provided [RCV005168735]	Chr19:18789286 [GRCh38] Chr19:18900095 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2235C>T (p.Ile745=)	single nucleotide variant	not provided [RCV005203492]	Chr19:18782954 [GRCh38] Chr19:18893764 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1308G>T (p.Gln436His)	single nucleotide variant	not provided [RCV005142343]	Chr19:18786146 [GRCh38] Chr19:18896956 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1125C>A (p.Ile375=)	single nucleotide variant	not provided [RCV005234516]	Chr19:18787501 [GRCh38] Chr19:18898310 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.79+6C>G	single nucleotide variant	not provided [RCV005180741]	Chr19:18791185 [GRCh38] Chr19:18901994 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.559G>A (p.Gly187Arg)	single nucleotide variant	not provided [RCV005116210]	Chr19:18788883 [GRCh38] Chr19:18899692 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1553_1555del (p.Asp518del)	deletion	not provided [RCV005142997]	Chr19:18785786..18785788 [GRCh38] Chr19:18896596..18896598 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1135+16G>A	single nucleotide variant	not provided [RCV005207135]	Chr19:18787475 [GRCh38] Chr19:18898284 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1810C>G (p.Gln604Glu)	single nucleotide variant	not provided [RCV005142179]	Chr19:18785000 [GRCh38] Chr19:18895810 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.604-8C>T	single nucleotide variant	not provided [RCV005161940]	Chr19:18788758 [GRCh38] Chr19:18899567 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1536GGT[1] (p.Val514del)	microsatellite	not provided [RCV005137785]	Chr19:18785800..18785802 [GRCh38] Chr19:18896610..18896612 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.241G>C (p.Gly81Arg)	single nucleotide variant	not provided [RCV005081706]	Chr19:18790091 [GRCh38] Chr19:18900900 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1485G>A (p.Ala495=)	single nucleotide variant	not provided [RCV005072755]	Chr19:18785969 [GRCh38] Chr19:18896779 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.1131C>G (p.Gly377=)	single nucleotide variant	not provided [RCV005074581]	Chr19:18787495 [GRCh38] Chr19:18898304 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2223C>T (p.Cys741=)	single nucleotide variant	not provided [RCV005081737]	Chr19:18783058 [GRCh38] Chr19:18893868 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.854G>T (p.Arg285Leu)	single nucleotide variant	not provided [RCV005078293]	Chr19:18788423 [GRCh38] Chr19:18899232 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.4G>T (p.Val2Phe)	single nucleotide variant	not provided [RCV005077081]	Chr19:18791266 [GRCh38] Chr19:18902075 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.976-12C>G	single nucleotide variant	not provided [RCV005077121]	Chr19:18787662 [GRCh38] Chr19:18898471 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.762+5G>A	single nucleotide variant	not provided [RCV005139129]	Chr19:18788587 [GRCh38] Chr19:18899396 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2087+12A>T	single nucleotide variant	not provided [RCV005078560]	Chr19:18784179 [GRCh38] Chr19:18894989 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.2095T>G (p.Phe699Val)	single nucleotide variant	not provided [RCV005178424]	Chr19:18783186 [GRCh38] Chr19:18893996 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1450T>G (p.Cys484Gly)	single nucleotide variant	not provided [RCV005203855]	Chr19:18786004 [GRCh38] Chr19:18896814 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.815T>C (p.Leu272Pro)	single nucleotide variant	not provided [RCV005203871]	Chr19:18788462 [GRCh38] Chr19:18899271 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.364G>T (p.Gly122Cys)	single nucleotide variant	not provided [RCV005166078]	Chr19:18789968 [GRCh38] Chr19:18900777 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2162G>A (p.Arg721His)	single nucleotide variant	not provided [RCV005188120]	Chr19:18783119 [GRCh38] Chr19:18893929 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.21C>T (p.Cys7=)	single nucleotide variant	not provided [RCV005075880]	Chr19:18791249 [GRCh38] Chr19:18902058 [GRCh37] Chr19:19p13.11	likely benign
NM_000095.3(COMP):c.319_339dup (p.Pro113_Cys114insSerGlyAlaArgCysGlyPro)	duplication	not provided [RCV005156290]	Chr19:18789992..18789993 [GRCh38] Chr19:18900801..18900802 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.492G>C (p.Gln164His)	single nucleotide variant	not provided [RCV005073487]	Chr19:18789196 [GRCh38] Chr19:18900005 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1767C>A (p.Asn589Lys)	single nucleotide variant	not provided [RCV005070822]	Chr19:18785043 [GRCh38] Chr19:18895853 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2078del (p.Gly693fs)	deletion	not provided [RCV005125378]	Chr19:18784200 [GRCh38] Chr19:18895010 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.2222G>A (p.Cys741Tyr)	single nucleotide variant	not provided [RCV005200200]	Chr19:18783059 [GRCh38] Chr19:18893869 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.259C>A (p.Pro87Thr)	single nucleotide variant	not provided [RCV005180481]	Chr19:18790073 [GRCh38] Chr19:18900882 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1467C>G (p.Asn489Lys)	single nucleotide variant	not provided [RCV005203854]	Chr19:18785987 [GRCh38] Chr19:18896797 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.1336G>A (p.Asp446Asn)	single nucleotide variant	not provided [RCV005203865]	Chr19:18786118 [GRCh38] Chr19:18896928 [GRCh37] Chr19:19p13.11	pathogenic
NM_000095.3(COMP):c.1046A>G (p.Asp349Gly)	single nucleotide variant	not provided [RCV005203867]	Chr19:18787580 [GRCh38] Chr19:18898389 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.935G>A (p.Cys312Tyr)	single nucleotide variant	not provided [RCV005203869]	Chr19:18788252 [GRCh38] Chr19:18899061 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.904G>T (p.Asp302Tyr)	single nucleotide variant	not provided [RCV005203870]	Chr19:18788283 [GRCh38] Chr19:18899092 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_000095.3(COMP):c.640G>A (p.Val214Met)	single nucleotide variant	not provided [RCV005152238]	Chr19:18788714 [GRCh38] Chr19:18899523 [GRCh37] Chr19:19p13.11	uncertain significance
NM_000095.3(COMP):c.1668+20G>A	single nucleotide variant	not provided [RCV005072955]	Chr19:18785653 [GRCh38] Chr19:18896463 [GRCh37] Chr19:19p13.11	likely benign

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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1300034	BP50_H	Blood pressure QTL 50 (human)	2.1	0.00094	Blood pressure	systolic	19	11089463	37089463	Human
597274456	GWAS1370530_H	educational attainment QTL GWAS1370530 (human)		2e-10	educational attainment		19	18790809	18790810	Human
597346336	GWAS1442410_H	body mass index QTL GWAS1442410 (human)		3e-08	body mass index	body mass index (BMI) (CMO:0000105)	19	18790809	18790810	Human

GDB:681601

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	18,896,782 - 18,896,953	UniSTS	GRCh37
Build 36	19	18,757,782 - 18,757,953	RGD	NCBI36
Celera	19	18,801,577 - 18,801,748	RGD
Cytogenetic Map	19	p13.1	UniSTS
HuRef	19	18,461,224 - 18,461,395	UniSTS

GDB:681607

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	18,898,573 - 18,899,070	UniSTS	GRCh37
Build 36	19	18,759,573 - 18,760,070	RGD	NCBI36
Celera	19	18,803,368 - 18,803,865	RGD
Cytogenetic Map	19	p13.1	UniSTS
HuRef	19	18,463,010 - 18,463,525	UniSTS

STS-L32137

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	18,893,611 - 18,893,733	UniSTS	GRCh37
Build 36	19	18,754,611 - 18,754,733	RGD	NCBI36
Celera	19	18,798,406 - 18,798,528	RGD
Cytogenetic Map	19	p13.1	UniSTS
HuRef	19	18,458,053 - 18,458,175	UniSTS
GeneMap99-GB4 RH Map	19	105.54	UniSTS
NCBI RH Map	19	163.6	UniSTS

STS-N94385

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	18,893,611 - 18,893,925	UniSTS	GRCh37
Build 36	19	18,754,611 - 18,754,925	RGD	NCBI36
Celera	19	18,798,406 - 18,798,720	RGD
Cytogenetic Map	19	p13.1	UniSTS
HuRef	19	18,458,053 - 18,458,367	UniSTS
GeneMap99-GB4 RH Map	19	101.89	UniSTS

COMP

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	18,895,777 - 18,896,346	UniSTS	GRCh37
Celera	19	18,800,572 - 18,801,141	UniSTS
HuRef	19	18,460,219 - 18,460,788	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2384	2788	2224	4637	1604	2184	5	522	1666	362	2219	6802	6161	48	3454	1	786	1710	1556	170	1


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
	CP068259	(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

Ensembl Acc Id:

ENST00000222271 ⟹ ENSP00000222271

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,782,773 - 18,791,305 (-)	Ensembl

Ensembl Acc Id:

ENST00000425807 ⟹ ENSP00000403792

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,782,774 - 18,791,305 (-)	Ensembl

Ensembl Acc Id:

ENST00000542601 ⟹ ENSP00000439156

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,782,773 - 18,791,305 (-)	Ensembl

Ensembl Acc Id:

ENST00000612179

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,786,118 - 18,787,035 (-)	Ensembl

RefSeq Acc Id:

NM_000095 ⟹ NP_000086

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	18,782,773 - 18,791,305 (-)	NCBI
GRCh37	19	18,893,583 - 18,902,114 (-)	ENTREZGENE
GRCh37	19	18,893,583 - 18,902,114 (-)	NCBI
Build 36	19	18,754,583 - 18,763,114 (-)	NCBI Archive
HuRef	19	18,458,025 - 18,466,569 (-)	ENTREZGENE
CHM1_1	19	18,893,587 - 18,902,107 (-)	NCBI
T2T-CHM13v2.0	19	18,918,369 - 18,926,902 (-)	NCBI

Sequence:

show sequence

AGAAAGCGAGCAGCCACCCAGCTCCCCGCCACCGCCATGGTCCCCGACACCGCCTGCGTTCTTCTGCTCACCCTGGCTGCCCTCGGCGCGTCCGGACAGGGCCAGAGCCCGTTGGGCTCAGACCTGGG
CCCGCAGATGCTTCGGGAACTGCAGGAAACCAACGCGGCGCTGCAGGACGTGCGGGAGCTGCTGCGGCAGCAGGTCAGGGAGATCACGTTCCTGAAAAACACGGTGATGGAGTGTGACGCGTGCGGGA
TGCAGCAGTCAGTACGCACCGGCCTACCCAGCGTGCGGCCCCTGCTCCACTGCGCGCCCGGCTTCTGCTTCCCCGGCGTGGCCTGCATCCAGACGGAGAGCGGCGCGCGCTGCGGCCCCTGCCCCGCG
GGCTTCACGGGCAACGGCTCGCACTGCACCGACGTCAACGAGTGCAACGCCCACCCCTGCTTCCCCCGAGTCCGCTGTATCAACACCAGCCCGGGGTTCCGCTGCGAGGCTTGCCCGCCGGGGTACAG
CGGCCCCACCCACCAGGGCGTGGGGCTGGCTTTCGCCAAGGCCAACAAGCAGGTTTGCACGGACATCAACGAGTGTGAGACCGGGCAACATAACTGCGTCCCCAACTCCGTGTGCATCAACACCCGGG
GCTCCTTCCAGTGCGGCCCGTGCCAGCCCGGCTTCGTGGGCGACCAGGCGTCCGGCTGCCAGCGGCGCGCACAGCGCTTCTGCCCCGACGGCTCGCCCAGCGAGTGCCACGAGCATGCAGACTGCGTC
CTAGAGCGCGATGGCTCGCGGTCGTGCGTGTGTGCCGTTGGCTGGGCCGGCAACGGGATCCTCTGTGGTCGCGACACTGACCTAGACGGCTTCCCGGACGAGAAGCTGCGCTGCCCGGAGCGCCAGTG
CCGTAAGGACAACTGCGTGACTGTGCCCAACTCAGGGCAGGAGGATGTGGACCGCGATGGCATCGGAGACGCCTGCGATCCGGATGCCGACGGGGACGGGGTCCCCAATGAAAAGGACAACTGCCCGC
TGGTGCGGAACCCAGACCAGCGCAACACGGACGAGGACAAGTGGGGCGATGCGTGCGACAACTGCCGGTCCCAGAAGAACGACGACCAAAAGGACACAGACCAGGACGGCCGGGGCGATGCGTGCGAC
GACGACATCGACGGCGACCGGATCCGCAACCAGGCCGACAACTGCCCTAGGGTACCCAACTCAGACCAGAAGGACAGTGATGGCGATGGTATAGGGGATGCCTGTGACAACTGTCCCCAGAAGAGCAA
CCCGGATCAGGCGGATGTGGACCACGACTTTGTGGGAGATGCTTGTGACAGCGATCAAGACCAGGATGGAGACGGACATCAGGACTCTCGGGACAACTGTCCCACGGTGCCTAACAGTGCCCAGGAGG
ACTCAGACCACGATGGCCAGGGTGATGCCTGCGACGACGACGACGACAATGACGGAGTCCCTGACAGTCGGGACAACTGCCGCCTGGTGCCTAACCCCGGCCAGGAGGACGCGGACAGGGACGGCGTG
GGCGACGTGTGCCAGGACGACTTTGATGCAGACAAGGTGGTAGACAAGATCGACGTGTGTCCGGAGAACGCTGAAGTCACGCTCACCGACTTCAGGGCCTTCCAGACAGTCGTGCTGGACCCGGAGGG
TGACGCGCAGATTGACCCCAACTGGGTGGTGCTCAACCAGGGAAGGGAGATCGTGCAGACAATGAACAGCGACCCAGGCCTGGCTGTGGGTTACACTGCCTTCAATGGCGTGGACTTCGAGGGCACGT
TCCATGTGAACACGGTCACGGATGACGACTATGCGGGCTTCATCTTTGGCTACCAGGACAGCTCCAGCTTCTACGTGGTCATGTGGAAGCAGATGGAGCAAACGTATTGGCAGGCGAACCCCTTCCGT
GCTGTGGCCGAGCCTGGCATCCAACTCAAGGCTGTGAAGTCTTCCACAGGCCCCGGGGAACAGCTGCGGAACGCTCTGTGGCATACAGGAGACACAGAGTCCCAGGTGCGGCTGCTGTGGAAGGACCC
GCGAAACGTGGGTTGGAAGGACAAGAAGTCCTATCGTTGGTTCCTGCAGCACCGGCCCCAAGTGGGCTACATCAGGGTGCGATTCTATGAGGGCCCTGAGCTGGTGGCCGACAGCAACGTGGTCTTGG
ACACAACCATGCGGGGTGGCCGCCTGGGGGTCTTCTGCTTCTCCCAGGAGAACATCATCTGGGCCAACCTGCGTTACCGCTGCAATGACACCATCCCAGAGGACTATGAGACCCATCAGCTGCGGCAA
GCCTAGGGACCAGGGTGAGGACCCGCCGGATGACAGCCACCCTCACCGCGGCTGGATGGGGGCTCTGCACCCAGCCCCAAGGGGTGGCCGTCCTGAGGGGGAAGTGAGAAGGGCTCAGAGAGGACAAA
ATAAAGTGTGTGTGCAGGGA

hide sequence


Protein RefSeqs	NP_000086	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA57253	(Get FASTA)	NCBI Sequence Viewer
	AAB35269	(Get FASTA)	NCBI Sequence Viewer
	AAB35270	(Get FASTA)	NCBI Sequence Viewer
	AAB86501	(Get FASTA)	NCBI Sequence Viewer
	AAC83643	(Get FASTA)	NCBI Sequence Viewer
	AAI10848	(Get FASTA)	NCBI Sequence Viewer
	AAI25093	(Get FASTA)	NCBI Sequence Viewer
	BAC11031	(Get FASTA)	NCBI Sequence Viewer
	BAC53888	(Get FASTA)	NCBI Sequence Viewer
	BAD96936	(Get FASTA)	NCBI Sequence Viewer
	BAF83284	(Get FASTA)	NCBI Sequence Viewer
	BAG59205	(Get FASTA)	NCBI Sequence Viewer
	BAG60137	(Get FASTA)	NCBI Sequence Viewer
	BAG60152	(Get FASTA)	NCBI Sequence Viewer
	CCQ42965	(Get FASTA)	NCBI Sequence Viewer
	EAW84735	(Get FASTA)	NCBI Sequence Viewer
	EAW84736	(Get FASTA)	NCBI Sequence Viewer
	EAW84737	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000222271
	ENSP00000222271.2
	ENSP00000403792.1
GenBank Protein	P49747	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_000086 ⟸ NM_000095
- Peptide Label:	precursor
- UniProtKB:	Q2NL86 (UniProtKB/Swiss-Prot), Q16389 (UniProtKB/Swiss-Prot), Q16388 (UniProtKB/Swiss-Prot), O14592 (UniProtKB/Swiss-Prot), B4DKJ3 (UniProtKB/Swiss-Prot), Q8N4T2 (UniProtKB/Swiss-Prot), P49747 (UniProtKB/Swiss-Prot), A8K3I0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVPDTACVLLLTLAALGASGQGQSPLGSDLGPQMLRELQETNAALQDVRELLRQQVREITFLKNTVMECDACGMQQSVRTGLPSVRPLLHCAPGFCFPGVACIQTESGARCGPCPAGFTGNGSHCTDV NECNAHPCFPRVRCINTSPGFRCEACPPGYSGPTHQGVGLAFAKANKQVCTDINECETGQHNCVPNSVCINTRGSFQCGPCQPGFVGDQASGCQRRAQRFCPDGSPSECHEHADCVLERDGSRSCVCA VGWAGNGILCGRDTDLDGFPDEKLRCPERQCRKDNCVTVPNSGQEDVDRDGIGDACDPDADGDGVPNEKDNCPLVRNPDQRNTDEDKWGDACDNCRSQKNDDQKDTDQDGRGDACDDDIDGDRIRNQA DNCPRVPNSDQKDSDGDGIGDACDNCPQKSNPDQADVDHDFVGDACDSDQDQDGDGHQDSRDNCPTVPNSAQEDSDHDGQGDACDDDDDNDGVPDSRDNCRLVPNPGQEDADRDGVGDVCQDDFDADK VVDKIDVCPENAEVTLTDFRAFQTVVLDPEGDAQIDPNWVVLNQGREIVQTMNSDPGLAVGYTAFNGVDFEGTFHVNTVTDDDYAGFIFGYQDSSSFYVVMWKQMEQTYWQANPFRAVAEPGIQLKAV KSSTGPGEQLRNALWHTGDTESQVRLLWKDPRNVGWKDKKSYRWFLQHRPQVGYIRVRFYEGPELVADSNVVLDTTMRGGRLGVFCFSQENIIWANLRYRCNDTIPEDYETHQLRQA hide sequence

Ensembl Acc Id:

ENSP00000439156 ⟸ ENST00000542601

Ensembl Acc Id:

ENSP00000403792 ⟸ ENST00000425807

Ensembl Acc Id:

ENSP00000222271 ⟸ ENST00000222271

Protein Domains

EGF-like TSP C-terminal

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P49747-F1-model_v2	AlphaFold	P49747	1-757	view protein structure

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 Assembly	Chr	Position (strand)	Source
GRCh38	19	18,791,305 - 18,791,365	EPDNEW

Database	Acc Id	Source(s)
COSMIC	COMP	COSMIC
Ensembl Genes	ENSG00000105664	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000222271	ENTREZGENE
	ENST00000222271.7	UniProtKB/Swiss-Prot
	ENST00000425807.1	UniProtKB/Swiss-Prot
Gene3D-CATH	1.20.5.10	UniProtKB/Swiss-Prot
	2.60.120.200	UniProtKB/Swiss-Prot
	4.10.1080.10	UniProtKB/Swiss-Prot
	Laminin	UniProtKB/Swiss-Prot
GTEx	ENSG00000105664	GTEx
HGNC ID	HGNC:2227	ENTREZGENE
Human Proteome Map	COMP	Human Proteome Map
InterPro	ConA-like_dom_sf	UniProtKB/Swiss-Prot
	EGF-like_Ca-bd_dom	UniProtKB/Swiss-Prot
	EGF-like_dom	UniProtKB/Swiss-Prot
	EGF_Ca-bd_CS	UniProtKB/Swiss-Prot
	Growth_fac_rcpt_cys_sf	UniProtKB/Swiss-Prot
	NOTCH1_EGF-like	UniProtKB/Swiss-Prot
	Thbs/COMP_coiled-coil	UniProtKB/Swiss-Prot
	Thrombospondin_3-like_rpt	UniProtKB/Swiss-Prot
	Thrombospondin_3_rpt	UniProtKB/Swiss-Prot
	Thrombospondin_C	UniProtKB/Swiss-Prot
	TSP-5_cc	UniProtKB/Swiss-Prot
	TSP/COMP_coiled-coil_sf	UniProtKB/Swiss-Prot
	TSP_type-3_rpt	UniProtKB/Swiss-Prot
KEGG Report	hsa:1311	UniProtKB/Swiss-Prot
NCBI Gene	1311	ENTREZGENE
OMIM	600310	OMIM
PANTHER	PTHR10199:SF88	UniProtKB/Swiss-Prot
	THROMBOSPONDIN	UniProtKB/Swiss-Prot
Pfam	COMP	UniProtKB/Swiss-Prot
	EGF_CA	UniProtKB/Swiss-Prot
	TSP_3	UniProtKB/Swiss-Prot
	TSP_C	UniProtKB/Swiss-Prot
PharmGKB	PA26744	PharmGKB
PROSITE	EGF_2	UniProtKB/Swiss-Prot
	EGF_3	UniProtKB/Swiss-Prot
	EGF_CA	UniProtKB/Swiss-Prot
	TSP3	UniProtKB/Swiss-Prot
	TSP_CTER	UniProtKB/Swiss-Prot
SMART	EGF	UniProtKB/Swiss-Prot
	EGF_CA	UniProtKB/Swiss-Prot
Superfamily-SCOP	Assembly domain of cartilage oligomeric matrix protein	UniProtKB/Swiss-Prot
	EGF/Laminin	UniProtKB/Swiss-Prot
	SSF103647	UniProtKB/Swiss-Prot
	SSF49899	UniProtKB/Swiss-Prot
	SSF57184	UniProtKB/Swiss-Prot
UniProt	A8K3I0	ENTREZGENE, UniProtKB/TrEMBL
	B4DKJ3	ENTREZGENE
	COMP_HUMAN	UniProtKB/Swiss-Prot
	G3XAP6_HUMAN	UniProtKB/TrEMBL
	L8E6U6_HUMAN	UniProtKB/TrEMBL
	O14592	ENTREZGENE
	P49747	ENTREZGENE
	Q16388	ENTREZGENE
	Q16389	ENTREZGENE
	Q2NL86	ENTREZGENE
	Q8N4T2	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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar