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Gene: PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2) Homo sapiens

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Symbol:

PLOD2

Name:

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

RGD ID:

1606836

HGNC Page

HGNC:9082

Description:

Enables procollagen-lysine 5-dioxygenase activity. Involved in hydroxylysine biosynthetic process; peptidyl-lysine hydroxylation; and response to hypoxia. Located in extracellular exosome. Biomarker of lung adenocarcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

BRKS2; LH2; lysine hydroxylase 2; lysyl hydroxlase 2; lysyl hydroxylase 2; procollagen lysyl hydroxylase 2; procollagen-lysine 5-dioxygenase; procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2; telopeptide lysyl hydroxylase; telopeptidyl lysyl hydroxylase; TLH

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	3	146,069,440 - 146,161,184 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	146,035,139 - 146,163,725 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	145,787,227 - 145,878,971 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	147,269,917 - 147,361,972 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	3	144,204,566 - 144,296,620 (-)	NCBI		Celera
Cytogenetic Map	3	q24	NCBI
HuRef	3	143,164,166 - 143,256,088 (-)	NCBI		HuRef
CHM1_1	3	145,750,160 - 145,842,267 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	148,824,992 - 148,916,735 (-)	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)
PLOD2	Human	hypothyroidism		ISO	Plod2 (Rattus norvegicus)	2314536	mRNA:decreased expression:multiple organs	RGD
PLOD2	Human	lung adenocarcinoma	disease_progression	IEP		151665822		RGD
PLOD2	Human	Neoplasm Metastasis	ameliorates	IMP		151665822	associated with lung non-small cell carcinoma	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLOD2	Human	Bruck syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES	ClinVar	PMID:28492532
PLOD2	Human	Bruck syndrome		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES	ClinVar	PMID:25741868 and PMID:28492532
PLOD2	Human	Bruck syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES	ClinVar	PMID:25086671 more ...
PLOD2	Human	Bruck syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES	ClinVar	PMID:25741868 more ...
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Bruck syndrome 2	ClinVar	PMID:22689593 more ...
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bruck syndrome 2	ClinVar	PMID:22689593 more ...
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bruck syndrome 2	ClinVar	PMID:25741868 more ...
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Bruck syndrome 2	ClinVar	PMID:12881513 more ...
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Bruck syndrome 2	ClinVar	PMID:12881513
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bruck syndrome 2	ClinVar	PMID:22689593 more ...
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bruck syndrome 2	ClinVar	PMID:22689593 more ...
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bruck syndrome 2	ClinVar	PMID:15523624 more ...
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bruck syndrome 2	ClinVar	PMID:25741868 and PMID:29177700
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bruck syndrome 2	ClinVar	PMID:25741868 more ...
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: PLOD2-related condition	ClinVar	PMID:25086671 more ...
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bruck syndrome 2	ClinVar	PMID:22689593 more ...
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: PLOD2-related condition	ClinVar	PMID:22689593 and PMID:25741868
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bruck syndrome 2	ClinVar	PMID:25741868 more ...
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bruck syndrome 2	ClinVar	PMID:28492532 more ...
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bruck syndrome 2	ClinVar	PMID:28492532 and PMID:31785789
PLOD2	Human	Bruck Syndrome 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: PLOD2-related condition	ClinVar	PMID:25741868 more ...
PLOD2	Human	cleft soft palate		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cleft soft palate	ClinVar	PMID:22689593 more ...
PLOD2	Human	cleft soft palate		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cleft soft palate	ClinVar	PMID:25741868 more ...
PLOD2	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
PLOD2	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868
PLOD2	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
PLOD2	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
PLOD2	Human	osteogenesis imperfecta		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Osteogenesis imperfecta	ClinVar	PMID:25741868 more ...
PLOD2	Human	osteogenesis imperfecta		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Osteogenesis imperfecta	ClinVar	PMID:22689593 more ...
PLOD2	Human	osteogenesis imperfecta		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Osteogenesis imperfecta	ClinVar	PMID:22689593 more ...
PLOD2	Human	osteogenesis imperfecta		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Osteogenesis imperfecta	ClinVar	PMID:25741868
PLOD2	Human	osteogenesis imperfecta		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Osteogenesis imperfecta	ClinVar	PMID:25741868 more ...
PLOD2	Human	osteogenesis imperfecta		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Osteogenesis imperfecta	ClinVar	PMID:25086671 more ...
PLOD2	Human	osteogenesis imperfecta		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Osteogenesis imperfecta	ClinVar	PMID:25741868 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLOD2	Human	Bone Neoplasms		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:15865105
PLOD2	Human	Bruck Syndrome 2		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD
PLOD2	Human	Experimental Liver Cirrhosis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:25380136
PLOD2	Human	juvenile rheumatoid arthritis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:19565504
PLOD2	Human	liver cirrhosis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:26396155
PLOD2	Human	osteoarthritis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:18784066

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLOD2	Human	Bruck syndrome		ISS	Plod2 (Mus musculus)	13592920	OMIM:259450 more ...	MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLOD2	Human	Bruck Syndrome 2		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)
PLOD2	Human	1,1-dichloroethene	decreases expression	ISO	Plod2 (Mus musculus)	6480464	vinylidene chloride results in decreased expression of PLOD2 mRNA	CTD	PMID:26682919
PLOD2	Human	1,2-dimethylhydrazine	increases expression	ISO	Plod2 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in increased expression of PLOD2 mRNA	CTD	PMID:22206623
PLOD2	Human	1-naphthyl isothiocyanate	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	1-Naphthylisothiocyanate results in increased expression of PLOD2 mRNA	CTD	PMID:25380136 and PMID:30723492
PLOD2	Human	17alpha-ethynylestradiol	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Ethinyl Estradiol results in increased expression of PLOD2 mRNA	CTD	PMID:12075121
PLOD2	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of PLOD2 mRNA	CTD	PMID:20106945
PLOD2	Human	17beta-estradiol	multiple interactions	ISO	Plod2 (Rattus norvegicus)	6480464	[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of PLOD2 mRNA	CTD	PMID:32741896
PLOD2	Human	17beta-estradiol	increases expression	ISO	Plod2 (Mus musculus)	6480464	Estradiol results in increased expression of PLOD2 mRNA	CTD	PMID:19484750
PLOD2	Human	17beta-estradiol	multiple interactions	EXP		6480464	[Estradiol binds to ESR2 protein] which results in increased expression of PLOD2 mRNA and [Estradiol co-treated with TGFB1 protein] results in increased expression of PLOD2 mRNA	CTD	PMID:20404318 and PMID:30165855
PLOD2	Human	17beta-estradiol	affects expression	EXP		6480464	Estradiol affects the expression of PLOD2 mRNA	CTD	PMID:14699072
PLOD2	Human	17beta-estradiol 3-benzoate	multiple interactions	ISO	Plod2 (Rattus norvegicus)	6480464	[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of PLOD2 mRNA	CTD	PMID:32741896
PLOD2	Human	17beta-hydroxy-5alpha-androstan-3-one	increases expression	EXP		6480464	Dihydrotestosterone results in increased expression of PLOD2 mRNA	CTD	PMID:29581250
PLOD2	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Plod2 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of PLOD2 mRNA	CTD	PMID:18691609 and PMID:19770486
PLOD2	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Plod2 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin affects the expression of PLOD2 mRNA	CTD	PMID:34747641
PLOD2	Human	2,4,6-trinitrobenzenesulfonic acid	increases expression	ISO	Plod2 (Mus musculus)	6480464	Trinitrobenzenesulfonic Acid results in increased expression of PLOD2 mRNA	CTD	PMID:18200517
PLOD2	Human	2,4,6-trinitrobenzenesulfonic acid	multiple interactions	ISO	Plod2 (Mus musculus)	6480464	Curcumin inhibits the reaction [Trinitrobenzenesulfonic Acid results in increased expression of PLOD2 mRNA]	CTD	PMID:18200517
PLOD2	Human	2-bromohexadecanoic acid	multiple interactions	EXP		6480464	2-bromopalmitate inhibits the reaction [[Cadmium Chloride results in increased abundance of Cadmium] which results in increased palmitoylation of PLOD2 protein]	CTD	PMID:38195004
PLOD2	Human	2-hydroxypropanoic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of PLOD2 mRNA	CTD	PMID:30851411
PLOD2	Human	4,4'-diaminodiphenylmethane	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	4 and 4'-diaminodiphenylmethane results in increased expression of PLOD2 mRNA	CTD	PMID:25380136
PLOD2	Human	4,4'-diaminodiphenylmethane	increases expression	ISO	Plod2 (Mus musculus)	6480464	4 and 4'-diaminodiphenylmethane results in increased expression of PLOD2 mRNA	CTD	PMID:18648102
PLOD2	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Plod2 (Mus musculus)	6480464	bisphenol S results in increased expression of PLOD2 mRNA	CTD	PMID:30951980
PLOD2	Human	4-hydroxyphenyl retinamide	increases expression	ISO	Plod2 (Mus musculus)	6480464	Fenretinide results in increased expression of PLOD2 mRNA	CTD	PMID:28973697
PLOD2	Human	5-fluorouracil	increases expression	EXP		6480464	Fluorouracil results in increased expression of PLOD2 protein	CTD	PMID:15352031
PLOD2	Human	5-fluorouracil	decreases expression	EXP		6480464	Fluorouracil results in decreased expression of PLOD2 mRNA	CTD	PMID:16557594
PLOD2	Human	5-fluorouracil	affects response to substance	EXP		6480464	PLOD2 protein affects the susceptibility to Fluorouracil	CTD	PMID:15352031
PLOD2	Human	6-propyl-2-thiouracil	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Propylthiouracil results in increased expression of PLOD2 mRNA	CTD	PMID:24780913
PLOD2	Human	6-propyl-2-thiouracil	decreases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Propylthiouracil results in decreased expression of PLOD2 mRNA	CTD	PMID:30047161
PLOD2	Human	acrylamide	decreases expression	EXP		6480464	Acrylamide results in decreased expression of PLOD2 mRNA	CTD	PMID:32763439
PLOD2	Human	aflatoxin B1	increases expression	ISO	Plod2 (Mus musculus)	6480464	Aflatoxin B1 results in increased expression of PLOD2 mRNA	CTD	PMID:19770486
PLOD2	Human	aflatoxin B1	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Aflatoxin B1 results in increased expression of PLOD2 mRNA	CTD	PMID:33354967
PLOD2	Human	aflatoxin B1	increases methylation	EXP		6480464	Aflatoxin B1 results in increased methylation of PLOD2 intron	CTD	PMID:30157460
PLOD2	Human	aflatoxin B1	increases expression	EXP		6480464	Aflatoxin B1 results in increased expression of PLOD2 mRNA	CTD	PMID:27153756
PLOD2	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of PLOD2 gene	CTD	PMID:27153756
PLOD2	Human	aflatoxin M1	decreases expression	EXP		6480464	Aflatoxin M1 results in decreased expression of PLOD2 mRNA	CTD	PMID:30928695
PLOD2	Human	aldehydo-D-glucose	increases expression	ISO	Plod2 (Mus musculus)	6480464	Glucose results in increased expression of PLOD2 mRNA	CTD	PMID:17178593
PLOD2	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of PLOD2 mRNA	CTD	PMID:17138961 and PMID:21934132
PLOD2	Human	amitrole	decreases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Amitrole results in decreased expression of PLOD2 mRNA	CTD	PMID:30047161
PLOD2	Human	ammonium chloride	affects expression	ISO	Plod2 (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of PLOD2 mRNA	CTD	PMID:16483693
PLOD2	Human	amphetamine	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Amphetamine results in increased expression of PLOD2 mRNA	CTD	PMID:30779732
PLOD2	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of PLOD2 mRNA	CTD	PMID:33212167
PLOD2	Human	arsane	multiple interactions	EXP		6480464	[sodium arsenate results in increased abundance of Arsenic] which results in increased expression of PLOD2 mRNA	CTD	PMID:32525701
PLOD2	Human	arsenic atom	multiple interactions	EXP		6480464	[sodium arsenate results in increased abundance of Arsenic] which results in increased expression of PLOD2 mRNA	CTD	PMID:32525701
PLOD2	Human	Azoxymethane	multiple interactions	ISO	Plod2 (Mus musculus)	6480464	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of PLOD2 mRNA	CTD	PMID:29950665
PLOD2	Human	benzo[a]pyrene	increases expression	ISO	Plod2 (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of PLOD2 mRNA	CTD	PMID:19770486
PLOD2	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of PLOD2 mRNA	CTD	PMID:32234424
PLOD2	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of PLOD2 5' UTR and Benzo(a)pyrene results in decreased methylation of PLOD2 promoter	CTD	PMID:27901495
PLOD2	Human	beta-lapachone	decreases expression	EXP		6480464	beta-lapachone results in decreased expression of PLOD2 mRNA	CTD	PMID:38218311
PLOD2	Human	beta-naphthoflavone	multiple interactions	ISO	Plod2 (Rattus norvegicus)	6480464	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of PLOD2 mRNA	CTD	PMID:18164116
PLOD2	Human	beta-naphthoflavone	decreases expression	EXP		6480464	beta-Naphthoflavone results in decreased expression of PLOD2 mRNA	CTD	PMID:32858204
PLOD2	Human	bexarotene	increases expression	EXP		6480464	bexarotene results in increased expression of PLOD2 mRNA	CTD	PMID:17178900
PLOD2	Human	bis(2-chloroethyl) sulfide	increases expression	ISO	Plod2 (Mus musculus)	6480464	Mustard Gas results in increased expression of PLOD2 mRNA	CTD	PMID:15674844
PLOD2	Human	bisphenol A	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of PLOD2 mRNA	CTD	PMID:12075121 and PMID:25181051
PLOD2	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of PLOD2 gene	CTD	PMID:31601247
PLOD2	Human	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of PLOD2 gene	CTD	PMID:31601247
PLOD2	Human	bisphenol A	decreases expression	ISO	Plod2 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of PLOD2 mRNA	CTD	PMID:34947998
PLOD2	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of PLOD2 protein	CTD	PMID:37567409
PLOD2	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of PLOD2 mRNA and bisphenol A results in decreased expression of PLOD2 protein	CTD	PMID:29275510 and PMID:34186270
PLOD2	Human	bisphenol A	affects expression	EXP		6480464	bisphenol A affects the expression of PLOD2 mRNA	CTD	PMID:30903817
PLOD2	Human	bisphenol A	increases expression	ISO	Plod2 (Mus musculus)	6480464	bisphenol A results in increased expression of PLOD2 mRNA	CTD	PMID:25594700 and PMID:30951980
PLOD2	Human	bisphenol AF	increases expression	EXP		6480464	bisphenol AF results in increased expression of PLOD2 protein	CTD	PMID:34186270
PLOD2	Human	Bisphenol B	increases expression	EXP		6480464	bisphenol B results in increased expression of PLOD2 protein	CTD	PMID:34186270
PLOD2	Human	bisphenol F	increases expression	ISO	Plod2 (Mus musculus)	6480464	bisphenol F results in increased expression of PLOD2 mRNA	CTD	PMID:30951980
PLOD2	Human	bisphenol F	increases expression	EXP		6480464	bisphenol F results in increased expression of PLOD2 protein	CTD	PMID:34186270
PLOD2	Human	butan-1-ol	multiple interactions	EXP		6480464	[[Gasoline co-treated with 1-Butanol] results in increased abundance of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PLOD2 mRNA	CTD	PMID:29432896
PLOD2	Human	cadmium atom	multiple interactions	EXP		6480464	2-bromopalmitate inhibits the reaction [[Cadmium Chloride results in increased abundance of Cadmium] which results in increased palmitoylation of PLOD2 protein] and [Cadmium Chloride results in increased abundance of Cadmium] which results in increased palmitoylation of PLOD2 protein	CTD	PMID:38195004
PLOD2	Human	cadmium dichloride	decreases expression	ISO	Plod2 (Mus musculus)	6480464	Cadmium Chloride results in decreased expression of PLOD2 mRNA	CTD	PMID:24982889
PLOD2	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of PLOD2 mRNA	CTD	PMID:38568856
PLOD2	Human	cadmium dichloride	multiple interactions	EXP		6480464	2-bromopalmitate inhibits the reaction [[Cadmium Chloride results in increased abundance of Cadmium] which results in increased palmitoylation of PLOD2 protein] and [Cadmium Chloride results in increased abundance of Cadmium] which results in increased palmitoylation of PLOD2 protein	CTD	PMID:38195004
PLOD2	Human	cadmium dichloride	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Cadmium Chloride results in increased expression of PLOD2 mRNA	CTD	PMID:25993096
PLOD2	Human	cadmium sulfate	increases expression	EXP		6480464	cadmium sulfate results in increased expression of PLOD2 mRNA	CTD	PMID:12064557 and PMID:14676411
PLOD2	Human	carbon nanotube	decreases expression	ISO	Plod2 (Mus musculus)	6480464	Nanotubes more ...	CTD	PMID:25554681
PLOD2	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to PLOD2 gene]	CTD	PMID:28238834
PLOD2	Human	chloropicrin	affects expression	EXP		6480464	chloropicrin affects the expression of PLOD2 mRNA	CTD	PMID:26352163
PLOD2	Human	chloropicrin	decreases expression	EXP		6480464	chloropicrin results in decreased expression of PLOD2 mRNA	CTD	PMID:28476498
PLOD2	Human	choline	multiple interactions	ISO	Plod2 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of PLOD2 more ...	CTD	PMID:20938992
PLOD2	Human	ciglitazone	decreases expression	ISO	Plod2 (Rattus norvegicus)	6480464	ciglitazone results in decreased expression of PLOD2 mRNA	CTD	PMID:22193206
PLOD2	Human	cisplatin	decreases expression	EXP		6480464	Cisplatin results in decreased expression of PLOD2 mRNA	CTD	PMID:27392435
PLOD2	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in decreased expression of PLOD2 mRNA	CTD	PMID:27392435
PLOD2	Human	cobalt atom	multiple interactions	EXP		6480464	[tungsten carbide binds to Cobalt] which results in increased expression of PLOD2 mRNA	CTD	PMID:20105288
PLOD2	Human	cobalt dichloride	increases expression	EXP		6480464	cobaltous chloride results in increased expression of PLOD2 mRNA	CTD	PMID:19376846 and PMID:20105288
PLOD2	Human	copper atom	multiple interactions	EXP		6480464	[Disulfiram binds to Copper] which results in increased expression of PLOD2 mRNA and [NSC 689534 binds to Copper] which results in increased expression of PLOD2 mRNA	CTD	PMID:20971185 and PMID:24690739
PLOD2	Human	copper(0)	multiple interactions	EXP		6480464	[Disulfiram binds to Copper] which results in increased expression of PLOD2 mRNA and [NSC 689534 binds to Copper] which results in increased expression of PLOD2 mRNA	CTD	PMID:20971185 and PMID:24690739
PLOD2	Human	copper(II) sulfate	increases expression	EXP		6480464	Copper Sulfate results in increased expression of PLOD2 mRNA	CTD	PMID:19549813
PLOD2	Human	coumestrol	multiple interactions	EXP		6480464	[Coumestrol co-treated with 2 more ...	CTD	PMID:19167446
PLOD2	Human	curcumin	multiple interactions	ISO	Plod2 (Mus musculus)	6480464	Curcumin inhibits the reaction [Trinitrobenzenesulfonic Acid results in increased expression of PLOD2 mRNA]	CTD	PMID:18200517
PLOD2	Human	cyclosporin A	affects expression	EXP		6480464	Cyclosporine affects the expression of PLOD2 mRNA	CTD	PMID:20106945
PLOD2	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of PLOD2 mRNA	CTD	PMID:21632981 more ...
PLOD2	Human	cyclosporin A	decreases expression	ISO	Plod2 (Mus musculus)	6480464	Cyclosporine results in decreased expression of PLOD2 mRNA	CTD	PMID:19770486
PLOD2	Human	D-glucose	increases expression	ISO	Plod2 (Mus musculus)	6480464	Glucose results in increased expression of PLOD2 mRNA	CTD	PMID:17178593
PLOD2	Human	dexamethasone	decreases expression	EXP		6480464	Dexamethasone results in decreased expression of PLOD2 mRNA	CTD	PMID:25047013
PLOD2	Human	dextran sulfate	multiple interactions	ISO	Plod2 (Mus musculus)	6480464	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of PLOD2 mRNA	CTD	PMID:29950665
PLOD2	Human	diallyl trisulfide	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	diallyl trisulfide results in increased expression of PLOD2 mRNA	CTD	PMID:34014027
PLOD2	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of PLOD2 mRNA	CTD	PMID:28302478
PLOD2	Human	dimethyl sulfoxide	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Dimethyl Sulfoxide results in increased expression of PLOD2 mRNA	CTD	PMID:22193206
PLOD2	Human	dioxygen	increases expression	EXP		6480464	Oxygen deficiency results in increased expression of PLOD2 mRNA	CTD	PMID:20042640 more ...
PLOD2	Human	disulfiram	multiple interactions	EXP		6480464	[Disulfiram binds to Copper] which results in increased expression of PLOD2 mRNA	CTD	PMID:24690739
PLOD2	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386
PLOD2	Human	doxifluridine	decreases response to substance	EXP		6480464	PLOD2 protein results in decreased susceptibility to doxifluridine	CTD	PMID:16734730
PLOD2	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of PLOD2 mRNA	CTD	PMID:29803840
PLOD2	Human	elemental selenium	decreases expression	EXP		6480464	Selenium results in decreased expression of PLOD2 mRNA	CTD	PMID:19244175
PLOD2	Human	endosulfan	decreases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Endosulfan results in decreased expression of PLOD2 mRNA	CTD	PMID:29391264
PLOD2	Human	Enterolactone	multiple interactions	EXP		6480464	[Coumestrol co-treated with 2 and 3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of PLOD2 mRNA	CTD	PMID:19167446
PLOD2	Human	entinostat	increases expression	EXP		6480464	entinostat results in increased expression of PLOD2 mRNA	CTD	PMID:26272509
PLOD2	Human	entinostat	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PLOD2 mRNA	CTD	PMID:27188386
PLOD2	Human	enzalutamide	decreases expression	EXP		6480464	enzalutamide results in decreased expression of PLOD2 mRNA	CTD	PMID:29581250
PLOD2	Human	ethanol	increases expression	EXP		6480464	Ethanol results in increased expression of PLOD2 mRNA	CTD	PMID:15997088 and PMID:23378141
PLOD2	Human	ethanol	multiple interactions	EXP		6480464	[[Gasoline co-treated with Ethanol] results in increased abundance of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PLOD2 mRNA and [Ethanol co-treated with Folic Acid] results in increased expression of PLOD2 mRNA	CTD	PMID:23378141 and PMID:29432896
PLOD2	Human	ethanol	multiple interactions	ISO	Plod2 (Mus musculus)	6480464	[Carbon Tetrachloride co-treated with Ethanol] results in increased expression of PLOD2 mRNA	CTD	PMID:30517762
PLOD2	Human	ethyl methanesulfonate	decreases expression	EXP		6480464	Ethyl Methanesulfonate results in decreased expression of PLOD2 mRNA	CTD	PMID:23649840
PLOD2	Human	folic acid	multiple interactions	ISO	Plod2 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of PLOD2 more ...	CTD	PMID:20938992
PLOD2	Human	folic acid	multiple interactions	EXP		6480464	[Ethanol co-treated with Folic Acid] results in increased expression of PLOD2 mRNA	CTD	PMID:23378141
PLOD2	Human	fonofos	increases methylation	EXP		6480464	Fonofos results in increased methylation of PLOD2 promoter	CTD	PMID:22847954
PLOD2	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of PLOD2 gene	CTD	PMID:31601247
PLOD2	Human	furan	decreases methylation	ISO	Plod2 (Rattus norvegicus)	6480464	furan results in decreased methylation of PLOD2 gene	CTD	PMID:27387713
PLOD2	Human	furan	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	furan results in increased expression of PLOD2 mRNA	CTD	PMID:27387713
PLOD2	Human	genistein	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Genistein results in increased expression of PLOD2 mRNA	CTD	PMID:12075121
PLOD2	Human	glucose	increases expression	ISO	Plod2 (Mus musculus)	6480464	Glucose results in increased expression of PLOD2 mRNA	CTD	PMID:17178593
PLOD2	Human	isoniazide	increases expression	EXP		6480464	Isoniazid results in increased expression of PLOD2 mRNA	CTD	PMID:15997088
PLOD2	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of PLOD2 protein	CTD	PMID:32959892
PLOD2	Human	L-methionine	multiple interactions	ISO	Plod2 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of PLOD2 more ...	CTD	PMID:20938992
PLOD2	Human	lead diacetate	decreases expression	ISO	Plod2 (Rattus norvegicus)	6480464	lead acetate results in decreased expression of PLOD2 mRNA	CTD	PMID:22641619
PLOD2	Human	medroxyprogesterone acetate	decreases expression	EXP		6480464	Medroxyprogesterone Acetate results in decreased expression of PLOD2 mRNA	CTD	PMID:20843944
PLOD2	Human	mercury dibromide	increases expression	EXP		6480464	mercuric bromide results in increased expression of PLOD2 mRNA	CTD	PMID:26272509
PLOD2	Human	mercury dibromide	multiple interactions	EXP		6480464	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PLOD2 mRNA	CTD	PMID:27188386
PLOD2	Human	methimazole	decreases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Methimazole results in decreased expression of PLOD2 mRNA	CTD	PMID:30047161
PLOD2	Human	methyl methanesulfonate	decreases expression	EXP		6480464	Methyl Methanesulfonate results in decreased expression of PLOD2 mRNA	CTD	PMID:23649840
PLOD2	Human	methylmercury chloride	increases expression	EXP		6480464	methylmercuric chloride results in increased expression of PLOD2 mRNA	CTD	PMID:23179753 and PMID:26272509
PLOD2	Human	methylmercury chloride	multiple interactions	EXP		6480464	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PLOD2 mRNA	CTD	PMID:27188386
PLOD2	Human	methylmercury chloride	decreases expression	EXP		6480464	methylmercuric chloride results in decreased expression of PLOD2 mRNA	CTD	PMID:27188386
PLOD2	Human	mifepristone	increases expression	EXP		6480464	Mifepristone results in increased expression of PLOD2 mRNA	CTD	PMID:17584828
PLOD2	Human	N-nitrosodiethylamine	multiple interactions	ISO	Plod2 (Rattus norvegicus)	6480464	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of PLOD2 mRNA	CTD	PMID:18164116
PLOD2	Human	N-nitrosodimethylamine	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Dimethylnitrosamine results in increased expression of PLOD2 mRNA	CTD	PMID:25380136
PLOD2	Human	nickel atom	increases expression	EXP		6480464	Nickel results in increased expression of PLOD2 mRNA	CTD	PMID:24768652
PLOD2	Human	oxaliplatin	multiple interactions	ISO	Plod2 (Rattus norvegicus)	6480464	[oxaliplatin co-treated with Topotecan] results in increased expression of PLOD2 mRNA	CTD	PMID:25729387
PLOD2	Human	oxaliplatin	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	oxaliplatin results in increased expression of PLOD2 mRNA	CTD	PMID:25729387
PLOD2	Human	ozone	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Ozone results in increased expression of PLOD2 mRNA	CTD	PMID:16716893
PLOD2	Human	ozone	multiple interactions	ISO	Plod2 (Mus musculus)	6480464	[Air Pollutants results in increased abundance of [Ozone co-treated with Soot]] which results in decreased expression of PLOD2 mRNA	CTD	PMID:34911549
PLOD2	Human	panobinostat	multiple interactions	EXP		6480464	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PLOD2 mRNA	CTD	PMID:27188386
PLOD2	Human	panobinostat	increases expression	EXP		6480464	panobinostat results in increased expression of PLOD2 mRNA	CTD	PMID:26272509
PLOD2	Human	paracetamol	affects expression	ISO	Plod2 (Mus musculus)	6480464	Acetaminophen affects the expression of PLOD2 mRNA	CTD	PMID:17562736
PLOD2	Human	paracetamol	increases expression	ISO	Plod2 (Mus musculus)	6480464	Acetaminophen results in increased expression of PLOD2 mRNA	CTD	PMID:15997088
PLOD2	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of PLOD2 mRNA	CTD	PMID:15997088
PLOD2	Human	paraquat	affects splicing	ISO	Plod2 (Mus musculus)	6480464	Paraquat affects the splicing of PLOD2 exon	CTD	PMID:27111068
PLOD2	Human	paraquat	decreases expression	EXP		6480464	Paraquat results in decreased expression of PLOD2 protein	CTD	PMID:34064677
PLOD2	Human	paraquat	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Paraquat results in increased expression of PLOD2 mRNA	CTD	PMID:32680482
PLOD2	Human	parathion	increases methylation	EXP		6480464	Parathion results in increased methylation of PLOD2 promoter	CTD	PMID:22847954
PLOD2	Human	pentane-2,3-dione	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	2 and 3-pentanedione results in increased expression of PLOD2 mRNA	CTD	PMID:25710175
PLOD2	Human	perfluorooctane-1-sulfonic acid	decreases expression	ISO	Plod2 (Mus musculus)	6480464	perfluorooctane sulfonic acid results in decreased expression of PLOD2 protein	CTD	PMID:26178269
PLOD2	Human	perfluorooctanoic acid	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	perfluorooctanoic acid results in increased expression of PLOD2 mRNA	CTD	PMID:19162173
PLOD2	Human	phenylmercury acetate	increases expression	EXP		6480464	Phenylmercuric Acetate results in increased expression of PLOD2 mRNA	CTD	PMID:26272509
PLOD2	Human	phenylmercury acetate	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PLOD2 mRNA	CTD	PMID:27188386
PLOD2	Human	phosgene	affects expression	ISO	Plod2 (Mus musculus)	6480464	Phosgene affects the expression of PLOD2 mRNA	CTD	PMID:16300373
PLOD2	Human	progesterone	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Progesterone results in increased expression of PLOD2 mRNA	CTD	PMID:21770760
PLOD2	Human	protein kinase inhibitor	multiple interactions	EXP		6480464	Protein Kinase Inhibitors inhibits the reaction [gardiquimod results in increased expression of PLOD2 mRNA]	CTD	PMID:28003376
PLOD2	Human	quercetin	decreases expression	EXP		6480464	Quercetin results in decreased expression of PLOD2 mRNA	CTD	PMID:21632981
PLOD2	Human	rac-lactic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of PLOD2 mRNA	CTD	PMID:30851411
PLOD2	Human	resveratrol	multiple interactions	EXP		6480464	[Coumestrol co-treated with resveratrol] results in increased expression of PLOD2 mRNA	CTD	PMID:19167446
PLOD2	Human	rotenone	decreases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Rotenone results in decreased expression of PLOD2 mRNA	CTD	PMID:28374803
PLOD2	Human	Salinomycin	decreases expression	EXP		6480464	salinomycin results in decreased expression of PLOD2 mRNA	CTD	PMID:19682730
PLOD2	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386
PLOD2	Human	selenium atom	decreases expression	EXP		6480464	Selenium results in decreased expression of PLOD2 mRNA	CTD	PMID:19244175
PLOD2	Human	sodium arsenate	multiple interactions	EXP		6480464	[sodium arsenate results in increased abundance of Arsenic] which results in increased expression of PLOD2 mRNA	CTD	PMID:32525701
PLOD2	Human	sodium arsenate	increases expression	ISO	Plod2 (Mus musculus)	6480464	sodium arsenate results in increased expression of PLOD2 mRNA	CTD	PMID:21795629
PLOD2	Human	sodium arsenate	decreases expression	ISO	Plod2 (Mus musculus)	6480464	sodium arsenate results in decreased expression of PLOD2 mRNA	CTD	PMID:21795629
PLOD2	Human	sulfadimethoxine	decreases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Sulfadimethoxine results in decreased expression of PLOD2 mRNA	CTD	PMID:30047161
PLOD2	Human	sunitinib	increases expression	EXP		6480464	Sunitinib results in increased expression of PLOD2 mRNA	CTD	PMID:31533062
PLOD2	Human	tamoxifen	increases expression	ISO	Plod2 (Mus musculus)	6480464	Tamoxifen results in increased expression of PLOD2 mRNA	CTD	PMID:25123088
PLOD2	Human	Tanshinone I	decreases expression	EXP		6480464	tanshinone results in decreased expression of PLOD2 mRNA	CTD	PMID:15849732
PLOD2	Human	temozolomide	increases expression	EXP		6480464	Temozolomide results in increased expression of PLOD2 mRNA	CTD	PMID:31758290
PLOD2	Human	terbufos	increases methylation	EXP		6480464	terbufos results in increased methylation of PLOD2 promoter	CTD	PMID:22847954
PLOD2	Human	testosterone	multiple interactions	ISO	Plod2 (Rattus norvegicus)	6480464	[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of PLOD2 mRNA	CTD	PMID:32741896
PLOD2	Human	testosterone enanthate	affects expression	EXP		6480464	testosterone enanthate affects the expression of PLOD2 mRNA	CTD	PMID:17440010
PLOD2	Human	tetrachloromethane	affects expression	ISO	Plod2 (Mus musculus)	6480464	Carbon Tetrachloride affects the expression of PLOD2 mRNA	CTD	PMID:17484886
PLOD2	Human	tetrachloromethane	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Carbon Tetrachloride results in increased expression of PLOD2 mRNA	CTD	PMID:31150632
PLOD2	Human	tetrachloromethane	multiple interactions	ISO	Plod2 (Mus musculus)	6480464	[Carbon Tetrachloride co-treated with Ethanol] results in increased expression of PLOD2 mRNA	CTD	PMID:30517762
PLOD2	Human	thioacetamide	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of PLOD2 mRNA	CTD	PMID:34492290
PLOD2	Human	titanium dioxide	multiple interactions	ISO	Plod2 (Mus musculus)	6480464	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of PLOD2 mRNA	CTD	PMID:29950665
PLOD2	Human	titanium dioxide	decreases methylation	ISO	Plod2 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of PLOD2 gene	CTD	PMID:35295148
PLOD2	Human	topotecan	multiple interactions	ISO	Plod2 (Rattus norvegicus)	6480464	[oxaliplatin co-treated with Topotecan] results in increased expression of PLOD2 mRNA	CTD	PMID:25729387
PLOD2	Human	topotecan	increases expression	ISO	Plod2 (Rattus norvegicus)	6480464	Topotecan results in increased expression of PLOD2 mRNA	CTD	PMID:25729387
PLOD2	Human	topotecan	affects response to substance	EXP		6480464	PLOD2 protein affects the susceptibility to Topotecan	CTD	PMID:16217747
PLOD2	Human	trichostatin A	increases expression	EXP		6480464	trichostatin A results in increased expression of PLOD2 mRNA	CTD	PMID:24935251 and PMID:26272509
PLOD2	Human	trichostatin A	multiple interactions	EXP		6480464	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PLOD2 mRNA	CTD	PMID:27188386
PLOD2	Human	triclosan	decreases expression	EXP		6480464	Triclosan results in decreased expression of PLOD2 mRNA	CTD	PMID:30510588
PLOD2	Human	tris(2-butoxyethyl) phosphate	affects expression	EXP		6480464	tris(2-butoxyethyl) phosphate affects the expression of PLOD2 mRNA	CTD	PMID:29024780
PLOD2	Human	Tungsten carbide	multiple interactions	EXP		6480464	[tungsten carbide binds to Cobalt] which results in increased expression of PLOD2 mRNA	CTD	PMID:20105288
PLOD2	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of PLOD2 mRNA	CTD	PMID:25979313
PLOD2	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of PLOD2 mRNA	CTD	PMID:23179753 more ...
PLOD2	Human	valproic acid	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PLOD2 mRNA	CTD	PMID:27188386
PLOD2	Human	vandetanib	increases expression	EXP		6480464	vandetanib results in increased expression of PLOD2 mRNA	CTD	PMID:16052530
PLOD2	Human	vitamin E	decreases expression	EXP		6480464	Vitamin E results in decreased expression of PLOD2 mRNA	CTD	PMID:19244175
PLOD2	Human	vorinostat	multiple interactions	EXP		6480464	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PLOD2 mRNA	CTD	PMID:27188386
PLOD2	Human	vorinostat	increases expression	EXP		6480464	vorinostat results in increased expression of PLOD2 mRNA	CTD	PMID:26272509
PLOD2	Human	Yessotoxin	increases expression	EXP		6480464	yessotoxin analog results in increased expression of PLOD2 mRNA	CTD	PMID:30679557
PLOD2	Human	zoledronic acid	increases expression	EXP		6480464	zoledronic acid results in increased expression of PLOD2 mRNA	CTD	PMID:24714768

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)
PLOD2	Human	cellular response to hormone stimulus		ISO	Plod2 (Rattus norvegicus)	9068941		RGD	PMID:15817667 and REF_RGD_ID:2314536
PLOD2	Human	collagen fibril organization	involved_in	IBA	MGI:1347008 more ...	150520179		GO_Central	GO_REF:0000033
PLOD2	Human	hydroxylysine biosynthetic process	involved_in	IDA		150520179	PMID:10934207	CAFA	PMID:10934207
PLOD2	Human	peptidyl-lysine hydroxylation	involved_in	ISS	UniProtKB:O60568	150520179	PMID:9582318	CAFA	PMID:9582318
PLOD2	Human	peptidyl-lysine hydroxylation	involved_in	IDA		150520179	PMID:10934207	CAFA	PMID:10934207
PLOD2	Human	protein modification process	involved_in	TAS		150520179	PMID:9054364	PINC	PMID:9054364
PLOD2	Human	protein O-linked glycosylation	NOT\|involved_in	IDA		150520179	PMID:10934207	CAFA	PMID:10934207
PLOD2	Human	response to hypoxia		ISO	Plod2 (Rattus norvegicus)	9068941		RGD	PMID:14622280 and REF_RGD_ID:1303932
PLOD2	Human	response to hypoxia	involved_in	IEP		150520179	PMID:15174142	UniProt	PMID:15174142

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)
PLOD2	Human	collagen-containing extracellular matrix	is_active_in	IBA	MGI:1347008 and PANTHER:PTN000842962	150520179		GO_Central	GO_REF:0000033
PLOD2	Human	endoplasmic reticulum	located_in	IEA	UniProtKB-KW:KW-0256	150520179		UniProt	GO_REF:0000043
PLOD2	Human	endoplasmic reticulum	is_active_in	IBA	FB:FBgn0036147 more ...	150520179		GO_Central	GO_REF:0000033
PLOD2	Human	endoplasmic reticulum	located_in	TAS		150520179	PMID:9054364	PINC	PMID:9054364
PLOD2	Human	endoplasmic reticulum membrane	located_in	IEA	UniProtKB-SubCell:SL-0097	150520179		UniProt	GO_REF:0000044
PLOD2	Human	endoplasmic reticulum membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-1981104 and Reactome:R-HSA-8948232
PLOD2	Human	extracellular exosome	located_in	HDA		150520179	PMID:19199708	UniProt	PMID:19199708
PLOD2	Human	extracellular space	is_active_in	IBA	FB:FBgn0036147 more ...	150520179		GO_Central	GO_REF:0000033
PLOD2	Human	Golgi apparatus	is_active_in	IBA	MGI:1347008 more ...	150520179		GO_Central	GO_REF:0000033
PLOD2	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
PLOD2	Human	rough endoplasmic reticulum	located_in	IEA	UniProtKB-SubCell:SL-0235	150520179		UniProt	GO_REF:0000044
PLOD2	Human	rough endoplasmic reticulum membrane	located_in	IEA	UniProtKB-SubCell:SL-0237	150520179		UniProt	GO_REF:0000044

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)
PLOD2	Human	dioxygenase activity	enables	IEA	UniProtKB-KW:KW-0223	150520179		UniProt	GO_REF:0000043
PLOD2	Human	iron ion binding	enables	IEA	InterPro:IPR006620	150520179		InterPro	GO_REF:0000002
PLOD2	Human	L-ascorbic acid binding	enables	IEA	UniProtKB-KW:KW-0847	150520179		UniProt	GO_REF:0000043
PLOD2	Human	L-ascorbic acid binding	enables	IEA	InterPro:IPR006620	150520179		InterPro	GO_REF:0000002
PLOD2	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
PLOD2	Human	oxidoreductase activity	enables	IEA	UniProtKB-KW:KW-0560	150520179		UniProt	GO_REF:0000043
PLOD2	Human	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	enables	IEA	InterPro:IPR006620	150520179		InterPro	GO_REF:0000002
PLOD2	Human	procollagen glucosyltransferase activity	NOT\|enables	IDA		150520179	PMID:10934207	CAFA	PMID:10934207
PLOD2	Human	procollagen-lysine 5-dioxygenase activity	enables	IEA	RHEA:16569	150520179		RHEA	GO_REF:0000116
PLOD2	Human	procollagen-lysine 5-dioxygenase activity	enables	IBA	MGI:1347008 more ...	150520179		GO_Central	GO_REF:0000033
PLOD2	Human	procollagen-lysine 5-dioxygenase activity	enables	IDA		150520179	PMID:10934207	CAFA	PMID:10934207
PLOD2	Human	procollagen-lysine 5-dioxygenase activity	enables	ISS	UniProtKB:O60568	150520179	PMID:9582318	CAFA	PMID:9582318
PLOD2	Human	procollagen-lysine 5-dioxygenase activity	enables	IEA	EC:1.14.11.4	150520179		UniProt	GO_REF:0000003
PLOD2	Human	procollagen-lysine 5-dioxygenase activity	enables	TAS		150520179	PMID:9054364	PINC	PMID:9054364
PLOD2	Human	procollagen-lysine 5-dioxygenase activity	enables	IEA	InterPro:IPR001006	150520179		InterPro	GO_REF:0000002

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLOD2	Human	lysine degradation pathway		IEA		6907045		KEGG	hsa:00310

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLOD2	Human	Arthrogryposis multiplex congenita		IAGP		8699517		HPO	ORPHA:2771
PLOD2	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Bowing of the long bones		IAGP		8699517		HPO	ORPHA:2771
PLOD2	Human	Cervical C6/C7 vertebrae fusion		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Elbow flexion contracture		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Femoral bowing		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Flexion contracture		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Hydroxyprolinuria		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Increased susceptibility to fractures		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Inguinal hernia		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Joint stiffness		IAGP		8699517		HPO	ORPHA:2771
PLOD2	Human	Knee flexion contracture		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Kyphosis		IAGP		8699517		HPO	ORPHA:2771
PLOD2	Human	Metaphyseal undermodelling		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Osteopenia		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Osteoporosis		IAGP		8699517		HPO	ORPHA:2771
PLOD2	Human	Pectus carinatum		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Platyspondyly		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Platyspondyly		IAGP		8699517		HPO	ORPHA:2771
PLOD2	Human	Pterygium		IAGP		8699517		HPO	ORPHA:2771
PLOD2	Human	Pterygium		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Recurrent fractures		IAGP		8699517		HPO	ORPHA:2771
PLOD2	Human	Respiratory insufficiency		IAGP		8699517		HPO	ORPHA:2771
PLOD2	Human	Scoliosis		IAGP		8699517		HPO	ORPHA:2771
PLOD2	Human	Short stature		IAGP		8699517		HPO	ORPHA:2771
PLOD2	Human	Short stature		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Talipes equinovarus		IAGP		8699517		HPO	ORPHA:2771
PLOD2	Human	Talipes equinovarus		IAGP		8699517		HPO	MIM:609220
PLOD2	Human	Triangular face		IAGP		8699517		HPO	ORPHA:2771
PLOD2	Human	Wormian bones		IAGP		8699517		HPO	ORPHA:2771
PLOD2	Human	Wormian bones		IAGP		8699517		HPO	MIM:609220

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLOD2	Human	Aplasia/hypoplasia of the femur		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aplasia/hypoplasia of the femur	ClinVar	PMID:25741868 more ...
PLOD2	Human	Aplasia/hypoplasia of the femur		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aplasia/hypoplasia of the femur	ClinVar	PMID:22689593 more ...
PLOD2	Human	Bowing of the long bones		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bowing of the long bones	ClinVar	PMID:25741868 more ...
PLOD2	Human	Bowing of the long bones		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bowing of the long bones	ClinVar	PMID:22689593 more ...
PLOD2	Human	Camptodactyly		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Camptodactyly	ClinVar	PMID:25741868 more ...
PLOD2	Human	Camptodactyly		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Camptodactyly	ClinVar	PMID:22689593 more ...
PLOD2	Human	Cleft soft palate		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cleft soft palate	ClinVar	PMID:25741868 more ...
PLOD2	Human	Cleft soft palate		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cleft soft palate	ClinVar	PMID:22689593 more ...
PLOD2	Human	Femoral bowing		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Femoral bowing	ClinVar	PMID:25741868 more ...
PLOD2	Human	Femoral bowing		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Femoral bowing	ClinVar	PMID:22689593 more ...
PLOD2	Human	Radial bowing		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Radial bowing	ClinVar	PMID:25741868 more ...
PLOD2	Human	Radial bowing		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Radial bowing	ClinVar	PMID:22689593 more ...
PLOD2	Human	Short femur		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Short femur	ClinVar	PMID:25741868 more ...
PLOD2	Human	Short femur		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Short femur	ClinVar	PMID:22689593 more ...
PLOD2	Human	Talipes equinovarus		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: CLUB FOOT	ClinVar	PMID:25741868 more ...
PLOD2	Human	Talipes equinovarus		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Clubfoot	ClinVar	PMID:22689593 more ...
PLOD2	Human	Ulnar bowing		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ulnar bowing	ClinVar	PMID:25741868 more ...
PLOD2	Human	Ulnar bowing		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ulnar bowing	ClinVar	PMID:22689593 more ...

#	Reference Title	Reference Citation
1.	PLOD2 regulated by transcription factor FOXA1 promotes metastasis in NSCLC.	Du H, etal., Cell Death Dis. 2017 Oct 26;8(10):e3143. doi: 10.1038/cddis.2017.553.
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7.	Differential expression of procollagen lysine 2-oxoglutarate 5-deoxygenase and matrix metalloproteinase isoforms in hypothyroid rat ovary and disintegration of extracellular matrix.	Saha SK, etal., Endocrinology. 2005 Jul;146(7):2963-75. Epub 2005 Apr 7.

PMID:8889548	PMID:9054364	PMID:9271685	PMID:9582318	PMID:10372558	PMID:10701773	PMID:10748089	PMID:10934207	PMID:11334715	PMID:11956192	PMID:12477932	PMID:12881513
PMID:15174142	PMID:15489334	PMID:15523624	PMID:15523625	PMID:15589118	PMID:15694128	PMID:15955452	PMID:16934803	PMID:17353931	PMID:17643375	PMID:18854154	PMID:19110540
PMID:19199708	PMID:19762917	PMID:19913121	PMID:20131247	PMID:20360068	PMID:20628086	PMID:20628624	PMID:20811636	PMID:21873635	PMID:21942715	PMID:22020285	PMID:22098155
PMID:22190034	PMID:22268729	PMID:22689593	PMID:22863883	PMID:23097496	PMID:23246001	PMID:23251661	PMID:23666869	PMID:23686814	PMID:23906982	PMID:24192939	PMID:25036637
PMID:25609649	PMID:25664850	PMID:25796446	PMID:26344197	PMID:26432637	PMID:26496610	PMID:26638075	PMID:26983694	PMID:27298363	PMID:27310702	PMID:27342126	PMID:27555664
PMID:27803159	PMID:28279775	PMID:28410212	PMID:28415047	PMID:28423580	PMID:28514442	PMID:28986522	PMID:29177700	PMID:29178448	PMID:29229926	PMID:29410444	PMID:29603227
PMID:30021884	PMID:30105440	PMID:30167909	PMID:30563531	PMID:30809309	PMID:30833792	PMID:30942445	PMID:31073040	PMID:31091453	PMID:31391253	PMID:31446433	PMID:31455288
PMID:31586073	PMID:31742425	PMID:31871319	PMID:31872384	PMID:32149426	PMID:32203420	PMID:32252199	PMID:32322062	PMID:32353859	PMID:32409323	PMID:32432748	PMID:32455614
PMID:32838362	PMID:33060197	PMID:33483598	PMID:33545068	PMID:33567341	PMID:33805564	PMID:33887877	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34107376	PMID:34159380
PMID:34244565	PMID:34258263	PMID:34315543	PMID:34349018	PMID:34388114	PMID:34943047	PMID:34944486	PMID:35271311	PMID:35278031	PMID:35384245	PMID:35446349	PMID:35509820
PMID:35682709	PMID:35696571	PMID:35831314	PMID:35944360	PMID:36042592	PMID:36071678	PMID:36114006	PMID:36168627	PMID:36215168	PMID:36225252	PMID:36244648	PMID:36470425
PMID:36632453	PMID:36897256	PMID:37155842	PMID:37223481	PMID:37481725	PMID:37483225	PMID:37788672	PMID:37827155	PMID:38008826	PMID:38233403	PMID:38696846

PLOD2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	146,069,440 - 146,161,184 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	146,035,139 - 146,163,725 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	145,787,227 - 145,878,971 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	147,269,917 - 147,361,972 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	3	144,204,566 - 144,296,620 (-)	NCBI		Celera
Cytogenetic Map	3	q24	NCBI
HuRef	3	143,164,166 - 143,256,088 (-)	NCBI		HuRef
CHM1_1	3	145,750,160 - 145,842,267 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	148,824,992 - 148,916,735 (-)	NCBI		T2T-CHM13v2.0

Plod2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	92,421,828 - 92,490,481 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	92,424,276 - 92,490,481 (+)	Ensembl		GRCm39 Ensembl
GRCm38	9	92,539,636 - 92,608,428 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	92,542,223 - 92,608,428 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	92,437,061 - 92,503,266 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	92,346,223 - 92,412,195 (+)	NCBI		MGSCv36	mm8
Celera	9	92,126,694 - 92,192,758 (+)	NCBI		Celera
Cytogenetic Map	9	E3.3	NCBI
cM Map	9	48.4	NCBI

Plod2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	101,964,318 - 102,047,022 (+)	NCBI		GRCr8
mRatBN7.2	8	93,084,548 - 93,167,255 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	93,084,513 - 93,167,255 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	98,757,951 - 98,827,969 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	96,957,203 - 97,027,220 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	94,787,446 - 94,864,034 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	99,977,334 - 100,059,736 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	99,977,334 - 100,059,736 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	99,462,925 - 99,529,696 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Rnor_5.0	8	99,543,695 - 99,545,578 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	97,525,279 - 97,623,152 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	97,544,733 - 97,642,604 (+)	NCBI
Celera	8	92,602,361 - 92,678,608 (+)	NCBI		Celera
Cytogenetic Map	8	q31	NCBI

Plod2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955474	11,392,163 - 11,475,508 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955474	11,392,163 - 11,473,918 (+)	NCBI	ChiLan1.0	ChiLan1.0

PLOD2
(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	2	143,960,509 - 144,050,676 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	3	143,965,240 - 144,055,393 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	143,091,833 - 143,181,831 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	150,675,423 - 150,764,939 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	150,675,424 - 150,764,939 (-)	Ensembl	panpan1.1		panPan2

PLOD2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	23	41,290,183 - 41,382,917 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	23	41,290,567 - 41,382,807 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
ROS_Cfam_1.0	23	41,914,649 - 42,007,609 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	23	41,915,768 - 42,007,611 (-)	Ensembl		ROS_Cfam_1.0 Ensembl

Plod2
(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_024405602	80,594,496 - 80,680,880 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936519	9,053,033 - 9,140,059 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936519	9,053,192 - 9,139,221 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PLOD2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	86,401,244 - 86,513,105 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	86,402,673 - 86,513,167 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	94,175,156 - 94,243,446 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PLOD2
(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	15	44,489,804 - 44,590,284 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	15	44,490,042 - 44,591,526 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666041	17,375,187 - 17,466,565 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Plod2
(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_004624730	22,944,184 - 23,034,231 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624730	22,944,710 - 23,034,200 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in PLOD2
414 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_182943.3(PLOD2):c.1559dup (p.Val523fs)	duplication	Bruck syndrome 2 [RCV000034323]\|Osteogenesis imperfecta [RCV004799755]\|not provided [RCV003556107]	Chr3:146077865..146077866 [GRCh38] Chr3:145795652..145795653 [GRCh37] Chr3:3q24	pathogenic
NM_182943.3(PLOD2):c.1886C>T (p.Thr629Ile)	single nucleotide variant	Bruck syndrome 2 [RCV000008080]	Chr3:146071386 [GRCh38] Chr3:145789173 [GRCh37] Chr3:3q24	pathogenic
NM_182943.3(PLOD2):c.1865G>T (p.Gly622Val)	single nucleotide variant	Bruck syndrome 2 [RCV000008081]	Chr3:146071407 [GRCh38] Chr3:145789194 [GRCh37] Chr3:3q24	pathogenic
NM_182943.3(PLOD2):c.1856G>A (p.Arg619His)	single nucleotide variant	Bruck syndrome 2 [RCV000008082]	Chr3:146071416 [GRCh38] Chr3:145789203 [GRCh37] Chr3:3q24	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_182943.3(PLOD2):c.801C>A (p.Asn267Lys)	single nucleotide variant	Bruck syndrome 2 [RCV000656731]	Chr3:146091878 [GRCh38] Chr3:145809665 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.351dup (p.Phe118fs)	duplication	Bruck syndrome 2 [RCV001196592]	Chr3:146110435..146110436 [GRCh38] Chr3:145828222..145828223 [GRCh37] Chr3:3q24	likely pathogenic
GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1	copy number loss	See cases [RCV000051575]	Chr3:141751960..148246189 [GRCh38] Chr3:141470802..147963976 [GRCh37] Chr3:142953492..149446666 [NCBI36] Chr3:3q23-24	pathogenic
GRCh38/hg38 3q24(chr3:144319831-146552546)x1	copy number loss	See cases [RCV000051576]	Chr3:144319831..146552546 [GRCh38] Chr3:144038673..146270333 [GRCh37] Chr3:145521363..147753023 [NCBI36] Chr3:3q24	pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]\|See cases [RCV000051723]	Chr3:137126982..198110178 [GRCh38] Chr3:136845824..197837049 [GRCh37] Chr3:138328514..199321446 [NCBI36] Chr3:3q22.3-29	pathogenic
NM_000935.2(PLOD2):c.1129G>A (p.Asp377Asn)	single nucleotide variant	Malignant melanoma [RCV000065871]	Chr3:146085272 [GRCh38] Chr3:145803059 [GRCh37] Chr3:147285749 [NCBI36] Chr3:3q24	not provided
NM_000935.2(PLOD2):c.161G>A (p.Arg54Gln)	single nucleotide variant	Malignant melanoma [RCV000060730]	Chr3:146124178 [GRCh38] Chr3:145841965 [GRCh37] Chr3:147324655 [NCBI36] Chr3:3q24	not provided
NM_182943.3(PLOD2):c.-4G>A	single nucleotide variant	PLOD2-related disorder [RCV003947464]\|not provided [RCV001535422]\|not specified [RCV000173585]	Chr3:146160993 [GRCh38] Chr3:145878780 [GRCh37] Chr3:3q24	benign\|likely benign
NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His)	single nucleotide variant	PLOD2-related disorder [RCV003955034]\|not provided [RCV000174960]	Chr3:146076820 [GRCh38] Chr3:145794607 [GRCh37] Chr3:3q24	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	copy number gain	See cases [RCV000134948]	Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29	pathogenic
GRCh38/hg38 3q23-24(chr3:142780798-146233927)x1	copy number loss	See cases [RCV000135827]	Chr3:142780798..146233927 [GRCh38] Chr3:142499640..145951714 [GRCh37] Chr3:143982330..147434404 [NCBI36] Chr3:3q23-24	uncertain significance
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	copy number loss	See cases [RCV000138135]	Chr3:134257180..149729538 [GRCh38] Chr3:133976022..149447325 [GRCh37] Chr3:135458712..150930015 [NCBI36] Chr3:3q22.2-25.1	pathogenic\|likely benign
GRCh38/hg38 3q24(chr3:145036887-146346332)x3	copy number gain	See cases [RCV000137972]	Chr3:145036887..146346332 [GRCh38] Chr3:144755729..146064119 [GRCh37] Chr3:146238419..147546809 [NCBI36] Chr3:3q24	likely benign\|uncertain significance
GRCh38/hg38 3q24(chr3:146051251-146159728)x1	copy number loss	See cases [RCV000141017]	Chr3:146051251..146159728 [GRCh38] Chr3:145769038..145877515 [GRCh37] Chr3:147251728..147360205 [NCBI36] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.*683C>T	single nucleotide variant	Bruck syndrome 2 [RCV000261746]	Chr3:146070034 [GRCh38] Chr3:145787821 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.533G>A (p.Arg178His)	single nucleotide variant	Bruck syndrome 2 [RCV000279708]\|not provided [RCV000733926]	Chr3:146106614 [GRCh38] Chr3:145824401 [GRCh37] Chr3:3q24	uncertain significance
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	copy number gain	See cases [RCV000240256]	Chr3:142995020..192997215 [GRCh37] Chr3:3q24-29	pathogenic
NM_000935.2(PLOD2):c.-412C>T	single nucleotide variant	Bruck syndrome 2 [RCV000271150]\|not provided [RCV001653660]	Chr3:146161401 [GRCh38] Chr3:145879188 [GRCh37] Chr3:3q24	benign\|likely benign
NM_182943.3(PLOD2):c.-170C>G	single nucleotide variant	Bruck syndrome 2 [RCV000269839]\|not provided [RCV004694710]	Chr3:146161159 [GRCh38] Chr3:145878946 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1500+12A>G	single nucleotide variant	Bruck syndrome 2 [RCV000603704]\|not provided [RCV002058465]\|not specified [RCV000242592]	Chr3:146079104 [GRCh38] Chr3:145796891 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.338+4G>A	single nucleotide variant	Bruck syndrome 2 [RCV000608593]\|not provided [RCV002058466]\|not specified [RCV000247802]	Chr3:146121108 [GRCh38] Chr3:145838895 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.*171T>G	single nucleotide variant	Bruck syndrome 2 [RCV000277749]\|not provided [RCV001718731]	Chr3:146070546 [GRCh38] Chr3:145788333 [GRCh37] Chr3:3q24	benign\|likely benign
NM_182943.3(PLOD2):c.471G>A (p.Val157=)	single nucleotide variant	Bruck syndrome 2 [RCV000334791]\|not provided [RCV002057850]	Chr3:146110316 [GRCh38] Chr3:145828103 [GRCh37] Chr3:3q24	likely benign\|uncertain significance
NM_182943.3(PLOD2):c.382A>G (p.Lys128Glu)	single nucleotide variant	Bruck syndrome 2 [RCV000399155]\|Osteogenesis imperfecta [RCV002278537]\|not provided [RCV001591000]	Chr3:146110405 [GRCh38] Chr3:145828192 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*764A>G	single nucleotide variant	Bruck syndrome 2 [RCV000356558]	Chr3:146069953 [GRCh38] Chr3:145787740 [GRCh37] Chr3:3q24	benign\|uncertain significance
NM_182943.3(PLOD2):c.616-13T>A	single nucleotide variant	Bruck syndrome 2 [RCV000378843]\|not provided [RCV003765986]	Chr3:146104355 [GRCh38] Chr3:145822142 [GRCh37] Chr3:3q24	likely benign\|uncertain significance
NM_182943.3(PLOD2):c.1457A>G (p.Lys486Arg)	single nucleotide variant	Bruck syndrome 2 [RCV000339603]\|Inborn genetic diseases [RCV004955450]\|not provided [RCV001091198]	Chr3:146079159 [GRCh38] Chr3:145796946 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*1157T>C	single nucleotide variant	Bruck syndrome 2 [RCV000359936]	Chr3:146069560 [GRCh38] Chr3:145787347 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*37A>G	single nucleotide variant	Bruck syndrome 2 [RCV000382633]\|not provided [RCV001691977]	Chr3:146070680 [GRCh38] Chr3:145788467 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.2121+14T>C	single nucleotide variant	Bruck syndrome 2 [RCV000288228]\|not provided [RCV002057848]	Chr3:146071028 [GRCh38] Chr3:145788815 [GRCh37] Chr3:3q24	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_182943.3(PLOD2):c.1658A>G (p.Gln553Arg)	single nucleotide variant	Bruck syndrome 2 [RCV000383704]	Chr3:146076801 [GRCh38] Chr3:145794588 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.-73C>T	single nucleotide variant	Bruck syndrome 2 [RCV000408138]	Chr3:146161062 [GRCh38] Chr3:145878849 [GRCh37] Chr3:3q24	uncertain significance
NM_000935.2(PLOD2):c.-212C>T	single nucleotide variant	Bruck syndrome 2 [RCV000306339]\|not provided [RCV001566095]	Chr3:146161201 [GRCh38] Chr3:145878988 [GRCh37] Chr3:3q24	benign\|likely benign
NM_000935.2(PLOD2):c.-322G>T	single nucleotide variant	Bruck syndrome 2 [RCV000365649]	Chr3:146161311 [GRCh38] Chr3:145879098 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1732A>G (p.Ile578Val)	single nucleotide variant	Bruck syndrome 2 [RCV000329070]\|Osteogenesis imperfecta [RCV002278536]\|not provided [RCV002057849]	Chr3:146073298 [GRCh38] Chr3:145791085 [GRCh37] Chr3:3q24	benign\|uncertain significance
NM_182943.3(PLOD2):c.-95G>A	single nucleotide variant	Bruck syndrome 2 [RCV000369184]	Chr3:146161084 [GRCh38] Chr3:145878871 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*847C>T	single nucleotide variant	Bruck syndrome 2 [RCV000393117]\|not provided [RCV004717479]	Chr3:146069870 [GRCh38] Chr3:145787657 [GRCh37] Chr3:3q24	benign\|likely benign
NM_182943.3(PLOD2):c.*809T>C	single nucleotide variant	Bruck syndrome 2 [RCV000296919]	Chr3:146069908 [GRCh38] Chr3:145787695 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.306T>A (p.Asp102Glu)	single nucleotide variant	Bruck syndrome 2 [RCV000349924]\|Inborn genetic diseases [RCV004649135]\|Osteogenesis imperfecta [RCV002278538]\|not provided [RCV001573580]	Chr3:146121144 [GRCh38] Chr3:145838931 [GRCh37] Chr3:3q24	likely benign\|uncertain significance
NM_182943.3(PLOD2):c.815C>T (p.Ser272Leu)	single nucleotide variant	Inborn genetic diseases [RCV004021316]\|not provided [RCV000380736]	Chr3:146091864 [GRCh38] Chr3:145809651 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.934C>A (p.Pro312Thr)	single nucleotide variant	not provided [RCV000358101]	Chr3:146088657 [GRCh38] Chr3:145806444 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val)	single nucleotide variant	Bruck syndrome 2 [RCV001148012]\|Osteogenesis imperfecta [RCV002278260]\|PLOD2-related disorder [RCV003920035]\|not provided [RCV000960137]\|not specified [RCV000359631]	Chr3:146104306 [GRCh38] Chr3:145822093 [GRCh37] Chr3:3q24	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_182943.3(PLOD2):c.587C>T (p.Thr196Ile)	single nucleotide variant	Bruck syndrome 2 [RCV001148013]\|Osteogenesis imperfecta [RCV002279368]\|PLOD2-related disorder [RCV003915677]\|not provided [RCV000585226]\|not specified [RCV003994030]	Chr3:146106560 [GRCh38] Chr3:145824347 [GRCh37] Chr3:3q24	likely benign\|uncertain significance
NM_182943.3(PLOD2):c.1764G>T (p.Trp588Cys)	single nucleotide variant	not provided [RCV001269694]	Chr3:146072645 [GRCh38] Chr3:145790432 [GRCh37] Chr3:3q24	pathogenic
NM_182943.3(PLOD2):c.-81C>T	single nucleotide variant	Bruck syndrome 2 [RCV000314914]	Chr3:146161070 [GRCh38] Chr3:145878857 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*587G>A	single nucleotide variant	Bruck syndrome 2 [RCV000330993]	Chr3:146070130 [GRCh38] Chr3:145787917 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*148T>C	single nucleotide variant	Bruck syndrome 2 [RCV000332740]	Chr3:146070569 [GRCh38] Chr3:145788356 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*1211C>T	single nucleotide variant	Bruck syndrome 2 [RCV000305155]	Chr3:146069506 [GRCh38] Chr3:145787293 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*292C>T	single nucleotide variant	Bruck syndrome 2 [RCV000367010]	Chr3:146070425 [GRCh38] Chr3:145788212 [GRCh37] Chr3:3q24	uncertain significance
NM_000935.2(PLOD2):c.-455C>T	single nucleotide variant	Bruck syndrome 2 [RCV000321588]	Chr3:146161444 [GRCh38] Chr3:145879231 [GRCh37] Chr3:3q24	uncertain significance
NM_000935.2(PLOD2):c.-478G>C	single nucleotide variant	Bruck syndrome 2 [RCV000376296]	Chr3:146161467 [GRCh38] Chr3:145879254 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1042G>T (p.Asp348Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004955690]\|not provided [RCV000597106]	Chr3:146086872 [GRCh38] Chr3:145804659 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1644C>T (p.Asn548=)	single nucleotide variant	not provided [RCV000908918]\|not specified [RCV000591278]	Chr3:146076815 [GRCh38] Chr3:145794602 [GRCh37] Chr3:3q24	benign\|likely benign
NM_182943.3(PLOD2):c.6G>C (p.Gly2=)	single nucleotide variant	not provided [RCV000733765]	Chr3:146160984 [GRCh38] Chr3:145878771 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val)	single nucleotide variant	Bruck syndrome 2 [RCV004786681]\|Cleft soft palate [RCV000415031]\|not provided [RCV001861447]\|not specified [RCV004689730]	Chr3:146079255 [GRCh38] Chr3:145797042 [GRCh37] Chr3:3q24	likely pathogenic\|uncertain significance
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter)	single nucleotide variant	Bruck syndrome 2 [RCV001782894]\|Cleft soft palate [RCV000415250]\|not provided [RCV000627278]	Chr3:146071125 [GRCh38] Chr3:145788912 [GRCh37] Chr3:3q24	pathogenic\|likely pathogenic
NM_182943.3(PLOD2):c.1949T>C (p.Phe650Ser)	single nucleotide variant	not provided [RCV000427467]	Chr3:146071323 [GRCh38] Chr3:145789110 [GRCh37] Chr3:3q24	likely pathogenic
NM_182943.3(PLOD2):c.1127+2T>C	single nucleotide variant	not provided [RCV000438142]	Chr3:146086785 [GRCh38] Chr3:145804572 [GRCh37] Chr3:3q24	pathogenic
GRCh37/hg19 3q24(chr3:143756186-145809824)x3	copy number gain	See cases [RCV000510389]	Chr3:143756186..145809824 [GRCh37] Chr3:3q24	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	copy number gain	See cases [RCV000512358]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_182943.3(PLOD2):c.1484G>A (p.Arg495Gln)	single nucleotide variant	Inborn genetic diseases [RCV003286856]\|not provided [RCV005061185]	Chr3:146079132 [GRCh38] Chr3:145796919 [GRCh37] Chr3:3q24	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	copy number gain	See cases [RCV000511055]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_182943.3(PLOD2):c.4G>T (p.Gly2Trp)	single nucleotide variant	Inborn genetic diseases [RCV003248121]	Chr3:146160986 [GRCh38] Chr3:145878773 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1108G>A (p.Glu370Lys)	single nucleotide variant	Inborn genetic diseases [RCV003343946]\|PLOD2-related disorder [RCV003905622]\|not provided [RCV000946770]\|not specified [RCV004767436]	Chr3:146086806 [GRCh38] Chr3:145804593 [GRCh37] Chr3:3q24	benign\|likely benign\|uncertain significance
NM_182943.3(PLOD2):c.2022A>T (p.Val674=)	single nucleotide variant	not specified [RCV000616394]	Chr3:146071141 [GRCh38] Chr3:145788928 [GRCh37] Chr3:3q24	likely benign
GRCh37/hg19 3q24(chr3:143757050-145815734)x3	copy number gain	not provided [RCV000682313]	Chr3:143757050..145815734 [GRCh37] Chr3:3q24	uncertain significance
GRCh37/hg19 3q24(chr3:145738142-145863739)x1	copy number loss	not provided [RCV000682314]	Chr3:145738142..145863739 [GRCh37] Chr3:3q24	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3	copy number gain	not provided [RCV000742138]	Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3	copy number gain	not provided [RCV000742133]	Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3q24(chr3:145767349-145989009)x3	copy number gain	not provided [RCV000742858]	Chr3:145767349..145989009 [GRCh37] Chr3:3q24	benign
GRCh37/hg19 3q24(chr3:145767684-145960310)x3	copy number gain	not provided [RCV000742859]	Chr3:145767684..145960310 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1127+159G>A	single nucleotide variant	not provided [RCV001690944]	Chr3:146086628 [GRCh38] Chr3:145804415 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.109+77C>T	single nucleotide variant	not provided [RCV001612080]	Chr3:146160804 [GRCh38] Chr3:145878591 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1848+162del	deletion	not provided [RCV001584009]	Chr3:146072399 [GRCh38] Chr3:145790186 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1359-163A>G	single nucleotide variant	not provided [RCV001576530]	Chr3:146079420 [GRCh38] Chr3:145797207 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1128-78_1128-77insT	insertion	not provided [RCV001550483]	Chr3:146085350..146085351 [GRCh38] Chr3:145803137..145803138 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.679+171T>C	single nucleotide variant	not provided [RCV001550638]	Chr3:146104108 [GRCh38] Chr3:145821895 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1128-79G>A	single nucleotide variant	not provided [RCV001547330]	Chr3:146085352 [GRCh38] Chr3:145803139 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1677+227C>T	single nucleotide variant	not provided [RCV001609545]	Chr3:146076555 [GRCh38] Chr3:145794342 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1128-145C>T	single nucleotide variant	not provided [RCV001575412]	Chr3:146085418 [GRCh38] Chr3:145803205 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.*1169T>C	single nucleotide variant	Bruck syndrome 2 [RCV001147016]	Chr3:146069548 [GRCh38] Chr3:145787335 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*1034A>C	single nucleotide variant	Bruck syndrome 2 [RCV001147018]	Chr3:146069683 [GRCh38] Chr3:145787470 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2229T>C (p.Pro743=)	single nucleotide variant	Bruck syndrome 2 [RCV001145154]\|Osteogenesis imperfecta [RCV002279673]\|not provided [RCV000966888]	Chr3:146070765 [GRCh38] Chr3:145788552 [GRCh37] Chr3:3q24	benign\|likely benign
GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	copy number gain	not provided [RCV000767703]	Chr3:135288025..146874012 [GRCh37] Chr3:3q22.2-24	pathogenic
NM_182943.3(PLOD2):c.1417C>T (p.Arg473Ter)	single nucleotide variant	Bruck syndrome 2 [RCV000779390]\|not provided [RCV001091199]	Chr3:146079199 [GRCh38] Chr3:145796986 [GRCh37] Chr3:3q24	pathogenic\|uncertain significance
NM_182943.3(PLOD2):c.804T>C (p.Tyr268=)	single nucleotide variant	not provided [RCV000903938]	Chr3:146091875 [GRCh38] Chr3:145809662 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1647T>C (p.Asn549=)	single nucleotide variant	Bruck syndrome 2 [RCV001147122]\|Osteogenesis imperfecta [RCV002279600]\|not provided [RCV000879960]	Chr3:146076812 [GRCh38] Chr3:145794599 [GRCh37] Chr3:3q24	benign\|likely benign
NM_182943.3(PLOD2):c.1171G>C (p.Val391Leu)	single nucleotide variant	Bruck syndrome 2 [RCV001148009]\|Osteogenesis imperfecta [RCV002279601]\|PLOD2-related disorder [RCV003930492]\|not provided [RCV000879961]	Chr3:146085230 [GRCh38] Chr3:145803017 [GRCh37] Chr3:3q24	benign\|likely benign
NM_182943.3(PLOD2):c.861C>T (p.Val287=)	single nucleotide variant	not provided [RCV000893736]	Chr3:146091818 [GRCh38] Chr3:145809605 [GRCh37] Chr3:3q24	benign\|likely benign
NM_182943.3(PLOD2):c.465T>G (p.Pro155=)	single nucleotide variant	not provided [RCV000906076]	Chr3:146110322 [GRCh38] Chr3:145828109 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1564-98_1564-95del	deletion	not provided [RCV000834259]	Chr3:146076990..146076993 [GRCh38] Chr3:145794777..145794780 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.339-22dup	duplication	Bruck syndrome 2 [RCV001789383]\|not provided [RCV000834251]	Chr3:146110469..146110470 [GRCh38] Chr3:145828256..145828257 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.503-73C>T	single nucleotide variant	not provided [RCV000834252]	Chr3:146106717 [GRCh38] Chr3:145824504 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1128-82A>T	single nucleotide variant	not provided [RCV000834256]	Chr3:146085355 [GRCh38] Chr3:145803142 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1128-78A>G	single nucleotide variant	not provided [RCV000834257]	Chr3:146085351 [GRCh38] Chr3:145803138 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1563+90T>C	single nucleotide variant	not provided [RCV000834258]	Chr3:146077772 [GRCh38] Chr3:145795559 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1744-67A>T	single nucleotide variant	not provided [RCV000834428]	Chr3:146072732 [GRCh38] Chr3:145790519 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.109+47G>C	single nucleotide variant	not provided [RCV000834690]	Chr3:146160834 [GRCh38] Chr3:145878621 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.615+294A>G	single nucleotide variant	not provided [RCV000830704]	Chr3:146106238 [GRCh38] Chr3:145824025 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.201+71A>G	single nucleotide variant	not provided [RCV000834250]	Chr3:146124067 [GRCh38] Chr3:145841854 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.2121+26A>G	single nucleotide variant	Bruck syndrome 2 [RCV001789385]\|not provided [RCV000834260]	Chr3:146071016 [GRCh38] Chr3:145788803 [GRCh37] Chr3:3q24	benign
NM_000935.2(PLOD2):c.-286G>T	single nucleotide variant	Bruck syndrome 2 [RCV001147217]	Chr3:146161275 [GRCh38] Chr3:145879062 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*673A>T	single nucleotide variant	Bruck syndrome 2 [RCV001147904]	Chr3:146070044 [GRCh38] Chr3:145787831 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*418A>T	single nucleotide variant	Bruck syndrome 2 [RCV001147906]	Chr3:146070299 [GRCh38] Chr3:145788086 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1626C>T (p.Tyr542=)	single nucleotide variant	Bruck syndrome 2 [RCV001147123]	Chr3:146076833 [GRCh38] Chr3:145794620 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*759T>C	single nucleotide variant	Bruck syndrome 2 [RCV001147902]	Chr3:146069958 [GRCh38] Chr3:145787745 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.836G>A (p.Cys279Tyr)	single nucleotide variant	Bruck syndrome 2 [RCV001148010]	Chr3:146091843 [GRCh38] Chr3:145809630 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.503-47T>C	single nucleotide variant	Bruck syndrome 2 [RCV001789384]\|not provided [RCV000834253]	Chr3:146106691 [GRCh38] Chr3:145824478 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.778-62A>G	single nucleotide variant	not provided [RCV000834254]	Chr3:146091963 [GRCh38] Chr3:145809750 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1127+50G>T	single nucleotide variant	not provided [RCV000834255]	Chr3:146086737 [GRCh38] Chr3:145804524 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.339-289C>T	single nucleotide variant	not provided [RCV000844496]	Chr3:146110737 [GRCh38] Chr3:145828524 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.679+260T>C	single nucleotide variant	not provided [RCV000844499]	Chr3:146104019 [GRCh38] Chr3:145821806 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.778-323T>G	single nucleotide variant	not provided [RCV000844500]	Chr3:146092224 [GRCh38] Chr3:145810011 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.879+258A>G	single nucleotide variant	not provided [RCV000844512]	Chr3:146091542 [GRCh38] Chr3:145809329 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1563+230C>G	single nucleotide variant	not provided [RCV000844515]	Chr3:146077632 [GRCh38] Chr3:145795419 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1677+243_1677+244insTAAATTAGTTTAGC	insertion	not provided [RCV000844517]	Chr3:146076538..146076539 [GRCh38] Chr3:145794325..145794326 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.*501C>T	single nucleotide variant	Bruck syndrome 2 [RCV001147905]	Chr3:146070216 [GRCh38] Chr3:145788003 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*1049G>T	single nucleotide variant	Bruck syndrome 2 [RCV001147017]	Chr3:146069668 [GRCh38] Chr3:145787455 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*930A>C	single nucleotide variant	Bruck syndrome 2 [RCV001147019]	Chr3:146069787 [GRCh38] Chr3:145787574 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1617T>C (p.Thr539=)	single nucleotide variant	not provided [RCV000891675]	Chr3:146076842 [GRCh38] Chr3:145794629 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys)	single nucleotide variant	Bruck syndrome 2 [RCV001145155]\|Inborn genetic diseases [RCV002557111]\|Osteogenesis imperfecta [RCV002276636]\|not provided [RCV001575215]\|not specified [RCV003490087]	Chr3:146071053 [GRCh38] Chr3:145788840 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1995G>A (p.Lys665=)	single nucleotide variant	Bruck syndrome 2 [RCV001145158]	Chr3:146071277 [GRCh38] Chr3:145789064 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.103C>T (p.Pro35Ser)	single nucleotide variant	Bruck syndrome 2 [RCV001145266]	Chr3:146160887 [GRCh38] Chr3:145878674 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.809C>T (p.Pro270Leu)	single nucleotide variant	Inborn genetic diseases [RCV003273865]	Chr3:146091870 [GRCh38] Chr3:145809657 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1280A>G (p.Asn427Ser)	single nucleotide variant	Bruck syndrome 2 [RCV000995609]\|not provided [RCV001858817]\|not specified [RCV003230614]	Chr3:146081816 [GRCh38] Chr3:145799603 [GRCh37] Chr3:3q24	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_182943.3(PLOD2):c.*63T>G	single nucleotide variant	Bruck syndrome 2 [RCV001149444]	Chr3:146070654 [GRCh38] Chr3:145788441 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.532C>T (p.Arg178Cys)	single nucleotide variant	Bruck syndrome 2 [RCV001149552]\|PLOD2-related disorder [RCV003973108]\|not provided [RCV001692355]	Chr3:146106615 [GRCh38] Chr3:145824402 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1500+1G>T	single nucleotide variant	not provided [RCV001091197]	Chr3:146079115 [GRCh38] Chr3:145796902 [GRCh37] Chr3:3q24	pathogenic\|likely pathogenic
NM_182943.3(PLOD2):c.109+42C>T	single nucleotide variant	not provided [RCV001547630]	Chr3:146160839 [GRCh38] Chr3:145878626 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.338+326C>T	single nucleotide variant	not provided [RCV001716821]	Chr3:146120786 [GRCh38] Chr3:145838573 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.616-146T>C	single nucleotide variant	not provided [RCV001555672]	Chr3:146104488 [GRCh38] Chr3:145822275 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.201+197T>C	single nucleotide variant	not provided [RCV001561444]	Chr3:146123941 [GRCh38] Chr3:145841728 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1743+271C>A	single nucleotide variant	not provided [RCV001669806]	Chr3:146073016 [GRCh38] Chr3:145790803 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1678-86G>A	single nucleotide variant	not provided [RCV001586252]	Chr3:146073438 [GRCh38] Chr3:145791225 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1233-270C>T	single nucleotide variant	not provided [RCV001710049]	Chr3:146082133 [GRCh38] Chr3:145799920 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1358+73A>G	single nucleotide variant	not provided [RCV001570154]	Chr3:146081665 [GRCh38] Chr3:145799452 [GRCh37] Chr3:3q24	likely benign
NC_000003.12:g.146161760T>C	single nucleotide variant	not provided [RCV001557687]	Chr3:146161760 [GRCh38] Chr3:145879547 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.339-181A>G	single nucleotide variant	not provided [RCV001567863]	Chr3:146110629 [GRCh38] Chr3:145828416 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.680-62G>A	single nucleotide variant	not provided [RCV001718503]	Chr3:146102914 [GRCh38] Chr3:145820701 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.615+277C>T	single nucleotide variant	not provided [RCV001653355]	Chr3:146106255 [GRCh38] Chr3:145824042 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.109+47G>A	single nucleotide variant	not provided [RCV001541451]	Chr3:146160834 [GRCh38] Chr3:145878621 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1358+170C>T	single nucleotide variant	not provided [RCV001541595]	Chr3:146081568 [GRCh38] Chr3:145799355 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.109+315C>T	single nucleotide variant	not provided [RCV001621264]	Chr3:146160566 [GRCh38] Chr3:145878353 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.805G>A (p.Val269Ile)	single nucleotide variant	Bruck syndrome 2 [RCV001148011]\|Osteogenesis imperfecta [RCV002279613]\|PLOD2-related disorder [RCV003895441]\|not provided [RCV000889098]	Chr3:146091874 [GRCh38] Chr3:145809661 [GRCh37] Chr3:3q24	benign\|likely benign
NM_182943.3(PLOD2):c.1893T>C (p.Asp631=)	single nucleotide variant	not provided [RCV000922462]	Chr3:146071379 [GRCh38] Chr3:145789166 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.786G>A (p.Leu262=)	single nucleotide variant	not provided [RCV000980020]	Chr3:146091893 [GRCh38] Chr3:145809680 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.844T>C (p.Cys282Arg)	single nucleotide variant	not provided [RCV000896632]	Chr3:146091835 [GRCh38] Chr3:145809622 [GRCh37] Chr3:3q24	likely benign\|conflicting interpretations of pathogenicity
NM_182943.3(PLOD2):c.1798T>C (p.Leu600=)	single nucleotide variant	not provided [RCV000909448]	Chr3:146072611 [GRCh38] Chr3:145790398 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His)	single nucleotide variant	Bruck syndrome 2 [RCV001147125]\|not provided [RCV000930681]\|not specified [RCV003317400]	Chr3:146079165 [GRCh38] Chr3:145796952 [GRCh37] Chr3:3q24	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_182943.3(PLOD2):c.2106G>C (p.Val702=)	single nucleotide variant	Bruck syndrome 2 [RCV001145156]\|Osteogenesis imperfecta [RCV002279607]\|not provided [RCV000884708]	Chr3:146071057 [GRCh38] Chr3:145788844 [GRCh37] Chr3:3q24	benign\|likely benign
NM_182943.3(PLOD2):c.1996-8T>A	single nucleotide variant	not provided [RCV000920614]	Chr3:146071175 [GRCh38] Chr3:145788962 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.-104G>T	single nucleotide variant	Bruck syndrome 2 [RCV001145268]\|not provided [RCV001575339]	Chr3:146161093 [GRCh38] Chr3:145878880 [GRCh37] Chr3:3q24	benign\|likely benign
NM_182943.3(PLOD2):c.*32T>C	single nucleotide variant	Bruck syndrome 2 [RCV001149445]\|not provided [RCV001549860]	Chr3:146070685 [GRCh38] Chr3:145788472 [GRCh37] Chr3:3q24	benign\|likely benign
NM_182943.3(PLOD2):c.1126A>C (p.Met376Leu)	single nucleotide variant	not provided [RCV000913394]\|not specified [RCV003994163]	Chr3:146086788 [GRCh38] Chr3:145804575 [GRCh37] Chr3:3q24	likely benign\|uncertain significance
NM_182943.3(PLOD2):c.10T>A (p.Cys4Ser)	single nucleotide variant	Bruck syndrome 2 [RCV001145267]\|not provided [RCV000890687]	Chr3:146160980 [GRCh38] Chr3:145878767 [GRCh37] Chr3:3q24	benign\|likely benign
NM_182943.3(PLOD2):c.1005+88T>C	single nucleotide variant	not provided [RCV001539620]	Chr3:146088498 [GRCh38] Chr3:145806285 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.109+39G>A	single nucleotide variant	not provided [RCV001718404]	Chr3:146160842 [GRCh38] Chr3:145878629 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1743+224C>A	single nucleotide variant	not provided [RCV001569742]	Chr3:146073063 [GRCh38] Chr3:145790850 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1128-72T>C	single nucleotide variant	not provided [RCV001718502]	Chr3:146085345 [GRCh38] Chr3:145803132 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.339-261C>A	single nucleotide variant	not provided [RCV001620159]	Chr3:146110709 [GRCh38] Chr3:145828496 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1677+206G>A	single nucleotide variant	not provided [RCV001560344]	Chr3:146076576 [GRCh38] Chr3:145794363 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1232+124A>G	single nucleotide variant	not provided [RCV001566982]	Chr3:146085045 [GRCh38] Chr3:145802832 [GRCh37] Chr3:3q24	likely benign
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	copy number gain	not provided [RCV002472621]	Chr3:116620308..172042292 [GRCh37] Chr3:3q13.31-26.31	pathogenic
GRCh37/hg19 3q24(chr3:142909055-147190850)x1	copy number loss	not provided [RCV001005475]	Chr3:142909055..147190850 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.880-177G>A	single nucleotide variant	not provided [RCV001688612]	Chr3:146088888 [GRCh38] Chr3:145806675 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.880-129C>A	single nucleotide variant	not provided [RCV001719528]	Chr3:146088840 [GRCh38] Chr3:145806627 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1563+63A>C	single nucleotide variant	not provided [RCV001636585]	Chr3:146077799 [GRCh38] Chr3:145795586 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.615+281A>G	single nucleotide variant	not provided [RCV001595479]	Chr3:146106251 [GRCh38] Chr3:145824038 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.615+206A>G	single nucleotide variant	not provided [RCV001719524]	Chr3:146106326 [GRCh38] Chr3:145824113 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1743+126T>C	single nucleotide variant	not provided [RCV001719527]	Chr3:146073161 [GRCh38] Chr3:145790948 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1678-149G>A	single nucleotide variant	not provided [RCV001719546]	Chr3:146073501 [GRCh38] Chr3:145791288 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.880-302A>C	single nucleotide variant	not provided [RCV001592007]	Chr3:146089013 [GRCh38] Chr3:145806800 [GRCh37] Chr3:3q24	likely benign
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	copy number gain	See cases [RCV001194586]	Chr3:138145289..162275610 [GRCh37] Chr3:3q22.3-26.1	pathogenic
NM_182943.3(PLOD2):c.110-170A>G	single nucleotide variant	not provided [RCV001681863]	Chr3:146124399 [GRCh38] Chr3:145842186 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.778-215dup	duplication	not provided [RCV001611639]	Chr3:146092107..146092108 [GRCh38] Chr3:145809894..145809895 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.502+133C>G	single nucleotide variant	not provided [RCV001611376]	Chr3:146110152 [GRCh38] Chr3:145827939 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1848+284_1848+285del	deletion	not provided [RCV001610172]	Chr3:146072276..146072277 [GRCh38] Chr3:145790063..145790064 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1127+239G>A	single nucleotide variant	not provided [RCV001693964]	Chr3:146086548 [GRCh38] Chr3:145804335 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1232+83_1232+86del	deletion	not provided [RCV001574443]	Chr3:146085083..146085086 [GRCh38] Chr3:145802870..145802873 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1942C>T (p.Arg648Trp)	single nucleotide variant	Bruck syndrome 2 [RCV001145159]\|not provided [RCV003322853]\|not specified [RCV004526807]	Chr3:146071330 [GRCh38] Chr3:145789117 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.680-45C>T	single nucleotide variant	Bruck syndrome 2 [RCV001789549]\|not provided [RCV001713636]	Chr3:146102897 [GRCh38] Chr3:145820684 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.*25A>C	single nucleotide variant	Bruck syndrome 2 [RCV001149446]	Chr3:146070692 [GRCh38] Chr3:145788479 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.335A>G (p.Glu112Gly)	single nucleotide variant	Bruck syndrome 2 [RCV001149553]\|Inborn genetic diseases [RCV002557215]\|not provided [RCV001858980]	Chr3:146121115 [GRCh38] Chr3:145838902 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.121G>A (p.Val41Ile)	single nucleotide variant	Bruck syndrome 2 [RCV001149554]	Chr3:146124218 [GRCh38] Chr3:145842005 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2103C>T (p.Asn701=)	single nucleotide variant	Bruck syndrome 2 [RCV001145157]\|not provided [RCV002070753]	Chr3:146071060 [GRCh38] Chr3:145788847 [GRCh37] Chr3:3q24	likely benign\|uncertain significance
NM_182943.3(PLOD2):c.1744-11A>G	single nucleotide variant	Bruck syndrome 2 [RCV001145160]\|not provided [RCV001760103]	Chr3:146072676 [GRCh38] Chr3:145790463 [GRCh37] Chr3:3q24	conflicting interpretations of pathogenicity\|uncertain significance
NM_182943.3(PLOD2):c.-188C>G	single nucleotide variant	Bruck syndrome 2 [RCV001145269]	Chr3:146161177 [GRCh38] Chr3:145878964 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.*848G>A	single nucleotide variant	Bruck syndrome 2 [RCV001147020]	Chr3:146069869 [GRCh38] Chr3:145787656 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1565G>C (p.Gly522Ala)	single nucleotide variant	Bruck syndrome 2 [RCV001147124]\|not provided [RCV002557152]	Chr3:146076894 [GRCh38] Chr3:145794681 [GRCh37] Chr3:3q24	uncertain significance
NM_000935.2(PLOD2):c.-417A>G	single nucleotide variant	Bruck syndrome 2 [RCV001147218]	Chr3:146161406 [GRCh38] Chr3:145879193 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1244C>T (p.Ala415Val)	single nucleotide variant	Bruck syndrome 2 [RCV001148008]\|not provided [RCV001858969]	Chr3:146081852 [GRCh38] Chr3:145799639 [GRCh37] Chr3:3q24	uncertain significance
GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1	copy number loss	not provided [RCV001005476]	Chr3:144053029..150272658 [GRCh37] Chr3:3q24-25.1	likely pathogenic
NM_182943.3(PLOD2):c.*742A>G	single nucleotide variant	Bruck syndrome 2 [RCV001147903]	Chr3:146069975 [GRCh38] Chr3:145787762 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.497C>G (p.Ser166Ter)	single nucleotide variant	not provided [RCV001269923]	Chr3:146110290 [GRCh38] Chr3:145828077 [GRCh37] Chr3:3q24	likely pathogenic
NM_182943.3(PLOD2):c.778-6T>G	single nucleotide variant	Bruck syndrome 2 [RCV001261006]	Chr3:146091907 [GRCh38] Chr3:145809694 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2270A>T (p.Asp757Val)	single nucleotide variant	Bruck syndrome 2 [RCV001261007]	Chr3:146070724 [GRCh38] Chr3:145788511 [GRCh37] Chr3:3q24	uncertain significance
NC_000003.11:g.(?_145788504)_(147131338_?)del	deletion	not provided [RCV001351557]	Chr3:145788504..147131338 [GRCh37] Chr3:3q24	uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	copy number gain	Global developmental delay [RCV001352648]	Chr3:138173683..162494699 [GRCh37] Chr3:3q22.3-26.1	pathogenic
NM_182943.3(PLOD2):c.2060A>G (p.His687Arg)	single nucleotide variant	not provided [RCV001269586]	Chr3:146071103 [GRCh38] Chr3:145788890 [GRCh37] Chr3:3q24	likely pathogenic
NM_182943.3(PLOD2):c.109+307C>T	single nucleotide variant	not provided [RCV001537178]	Chr3:146160574 [GRCh38] Chr3:145878361 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1275G>A (p.Trp425Ter)	single nucleotide variant	not provided [RCV001389431]	Chr3:146081821 [GRCh38] Chr3:145799608 [GRCh37] Chr3:3q24	pathogenic
NM_182943.3(PLOD2):c.1848+302G>A	single nucleotide variant	not provided [RCV001541449]	Chr3:146072259 [GRCh38] Chr3:145790046 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.680-67C>T	single nucleotide variant	not provided [RCV001614406]	Chr3:146102919 [GRCh38] Chr3:145820706 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1848+56T>C	single nucleotide variant	not provided [RCV001715652]	Chr3:146072505 [GRCh38] Chr3:145790292 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1128-203C>T	single nucleotide variant	not provided [RCV001695579]	Chr3:146085476 [GRCh38] Chr3:145803263 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.502+24G>A	single nucleotide variant	not provided [RCV001591502]	Chr3:146110261 [GRCh38] Chr3:145828048 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1418G>A (p.Arg473Gln)	single nucleotide variant	Osteogenesis imperfecta [RCV002277825]	Chr3:146079198 [GRCh38] Chr3:145796985 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1450C>T (p.Arg484Cys)	single nucleotide variant	Osteogenesis imperfecta [RCV002277826]\|not provided [RCV003101575]\|not specified [RCV004801185]	Chr3:146079166 [GRCh38] Chr3:145796953 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1483C>T (p.Arg495Ter)	single nucleotide variant	Bruck syndrome 2 [RCV001782659]\|not provided [RCV003128791]	Chr3:146079133 [GRCh38] Chr3:145796920 [GRCh37] Chr3:3q24	pathogenic\|likely pathogenic
NM_182943.3(PLOD2):c.1348G>A (p.Gly450Arg)	single nucleotide variant	not provided [RCV001769257]	Chr3:146081748 [GRCh38] Chr3:145799535 [GRCh37] Chr3:3q24	uncertain significance
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	copy number gain	Brachycephaly [RCV001801182]	Chr3:142729607..157921084 [GRCh37] Chr3:3q23-25.32	pathogenic
NM_182943.3(PLOD2):c.67del (p.Cys23fs)	deletion	Bruck syndrome 2 [RCV001784855]	Chr3:146160923 [GRCh38] Chr3:145878710 [GRCh37] Chr3:3q24	pathogenic
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	copy number loss	not provided [RCV001795847]	Chr3:143439359..165252122 [GRCh37] Chr3:3q24-26.1	pathogenic
NM_182943.3(PLOD2):c.1744C>G (p.Pro582Ala)	single nucleotide variant	not provided [RCV001766987]	Chr3:146072665 [GRCh38] Chr3:145790452 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1138C>T (p.Arg380Cys)	single nucleotide variant	not specified [RCV001797959]	Chr3:146085263 [GRCh38] Chr3:145803050 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1855C>T (p.Arg619Cys)	single nucleotide variant	Bruck syndrome 2 [RCV001823307]\|not provided [RCV001761263]	Chr3:146071417 [GRCh38] Chr3:145789204 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.439G>C (p.Asp147His)	single nucleotide variant	Inborn genetic diseases [RCV004953043]\|not provided [RCV001758824]	Chr3:146110348 [GRCh38] Chr3:145828135 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2104G>T (p.Val702Leu)	single nucleotide variant	Bruck syndrome 2 [RCV001802258]	Chr3:146071059 [GRCh38] Chr3:145788846 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.23C>T (p.Pro8Leu)	single nucleotide variant	not provided [RCV001987680]	Chr3:146160967 [GRCh38] Chr3:145878754 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1105G>A (p.Ala369Thr)	single nucleotide variant	not provided [RCV001930075]	Chr3:146086809 [GRCh38] Chr3:145804596 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.684A>T (p.Glu228Asp)	single nucleotide variant	not provided [RCV002045477]	Chr3:146102848 [GRCh38] Chr3:145820635 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2054G>A (p.Arg685His)	single nucleotide variant	not provided [RCV001915395]	Chr3:146071109 [GRCh38] Chr3:145788896 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.291G>A (p.Met97Ile)	single nucleotide variant	Inborn genetic diseases [RCV002557591]\|not provided [RCV001915559]	Chr3:146121159 [GRCh38] Chr3:145838946 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1848T>C (p.His616=)	single nucleotide variant	not provided [RCV002008315]	Chr3:146072561 [GRCh38] Chr3:145790348 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.517G>C (p.Ala173Pro)	single nucleotide variant	not provided [RCV001896296]	Chr3:146106630 [GRCh38] Chr3:145824417 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1478T>A (p.Leu493His)	single nucleotide variant	not provided [RCV001948611]	Chr3:146079138 [GRCh38] Chr3:145796925 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.812A>G (p.Asn271Ser)	single nucleotide variant	not provided [RCV001891067]	Chr3:146091867 [GRCh38] Chr3:145809654 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1165T>C (p.Phe389Leu)	single nucleotide variant	not provided [RCV001891515]	Chr3:146085236 [GRCh38] Chr3:145803023 [GRCh37] Chr3:3q24	uncertain significance
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	copy number gain	not specified [RCV002053375]	Chr3:145486960..160504834 [GRCh37] Chr3:3q24-25.33	pathogenic
NM_182943.3(PLOD2):c.1120A>G (p.Met374Val)	single nucleotide variant	Inborn genetic diseases [RCV002552224]\|not provided [RCV001912179]	Chr3:146086794 [GRCh38] Chr3:145804581 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1128G>A (p.Met376Ile)	single nucleotide variant	Inborn genetic diseases [RCV004038690]\|Osteogenesis imperfecta [RCV002276907]\|not provided [RCV002034738]\|not specified [RCV001844777]	Chr3:146085273 [GRCh38] Chr3:145803060 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2246G>T (p.Arg749Ile)	single nucleotide variant	not provided [RCV002001809]	Chr3:146070748 [GRCh38] Chr3:145788535 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.754A>G (p.Ile252Val)	single nucleotide variant	Inborn genetic diseases [RCV004041819]\|not provided [RCV001964710]	Chr3:146102778 [GRCh38] Chr3:145820565 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1259G>A (p.Arg420His)	single nucleotide variant	not provided [RCV001966992]	Chr3:146081837 [GRCh38] Chr3:145799624 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.437C>G (p.Pro146Arg)	single nucleotide variant	not specified [RCV001844776]	Chr3:146110350 [GRCh38] Chr3:145828137 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2135A>G (p.Lys712Arg)	single nucleotide variant	not provided [RCV001968618]	Chr3:146070859 [GRCh38] Chr3:145788646 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1564-4A>G	single nucleotide variant	not provided [RCV001872322]	Chr3:146076899 [GRCh38] Chr3:145794686 [GRCh37] Chr3:3q24	likely benign\|uncertain significance
NM_182943.3(PLOD2):c.1943G>A (p.Arg648Gln)	single nucleotide variant	not provided [RCV001889718]	Chr3:146071329 [GRCh38] Chr3:145789116 [GRCh37] Chr3:3q24	conflicting interpretations of pathogenicity\|uncertain significance
NM_182943.3(PLOD2):c.196G>A (p.Val66Met)	single nucleotide variant	not provided [RCV001964567]	Chr3:146124143 [GRCh38] Chr3:145841930 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1982G>A (p.Gly661Asp)	single nucleotide variant	not provided [RCV001944480]	Chr3:146071290 [GRCh38] Chr3:145789077 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.394G>A (p.Ala132Thr)	single nucleotide variant	not provided [RCV002000860]	Chr3:146110393 [GRCh38] Chr3:145828180 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.852C>G (p.Phe284Leu)	single nucleotide variant	not provided [RCV001937058]	Chr3:146091827 [GRCh38] Chr3:145809614 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.800A>G (p.Asn267Ser)	single nucleotide variant	not provided [RCV001942410]	Chr3:146091879 [GRCh38] Chr3:145809666 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.188A>G (p.Asn63Ser)	single nucleotide variant	not provided [RCV001980339]	Chr3:146124151 [GRCh38] Chr3:145841938 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.244A>G (p.Asn82Asp)	single nucleotide variant	not provided [RCV001961027]	Chr3:146121206 [GRCh38] Chr3:145838993 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.892G>A (p.Val298Ile)	single nucleotide variant	Inborn genetic diseases [RCV002545348]\|not provided [RCV002050825]	Chr3:146088699 [GRCh38] Chr3:145806486 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.8dup (p.Cys4fs)	duplication	Bruck syndrome 2 [RCV005025531]\|Osteogenesis imperfecta [RCV002266071]\|not provided [RCV001956410]	Chr3:146160981..146160982 [GRCh38] Chr3:145878768..145878769 [GRCh37] Chr3:3q24	pathogenic\|likely pathogenic
NM_182943.3(PLOD2):c.1127T>A (p.Met376Lys)	single nucleotide variant	not provided [RCV001899323]	Chr3:146086787 [GRCh38] Chr3:145804574 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1232+5T>A	single nucleotide variant	not provided [RCV002049661]\|not specified [RCV004782866]	Chr3:146085164 [GRCh38] Chr3:145802951 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.251T>G (p.Ile84Ser)	single nucleotide variant	not provided [RCV001990405]	Chr3:146121199 [GRCh38] Chr3:145838986 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1864G>T (p.Gly622Cys)	single nucleotide variant	not provided [RCV002009809]	Chr3:146071408 [GRCh38] Chr3:145789195 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1532C>T (p.Pro511Leu)	single nucleotide variant	not provided [RCV001996008]	Chr3:146077893 [GRCh38] Chr3:145795680 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1036T>G (p.Phe346Val)	single nucleotide variant	not provided [RCV001960272]	Chr3:146086878 [GRCh38] Chr3:145804665 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1045A>G (p.Lys349Glu)	single nucleotide variant	Bruck syndrome 2 [RCV004720346]\|not provided [RCV001992475]	Chr3:146086869 [GRCh38] Chr3:145804656 [GRCh37] Chr3:3q24	likely benign\|uncertain significance
NM_182943.3(PLOD2):c.853G>A (p.Asp285Asn)	single nucleotide variant	not provided [RCV002012145]	Chr3:146091826 [GRCh38] Chr3:145809613 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.383A>T (p.Lys128Ile)	single nucleotide variant	not provided [RCV001936518]	Chr3:146110404 [GRCh38] Chr3:145828191 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1025A>G (p.Asp342Gly)	single nucleotide variant	not provided [RCV001886120]	Chr3:146086889 [GRCh38] Chr3:145804676 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1538C>T (p.Thr513Ile)	single nucleotide variant	not provided [RCV002048618]	Chr3:146077887 [GRCh38] Chr3:145795674 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2158A>G (p.Ile720Val)	single nucleotide variant	Inborn genetic diseases [RCV003167158]\|not provided [RCV001925668]	Chr3:146070836 [GRCh38] Chr3:145788623 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.230G>A (p.Gly77Asp)	single nucleotide variant	Inborn genetic diseases [RCV004044483]\|not provided [RCV001960798]	Chr3:146121220 [GRCh38] Chr3:145839007 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1287G>A (p.Trp429Ter)	single nucleotide variant	not provided [RCV001924435]	Chr3:146081809 [GRCh38] Chr3:145799596 [GRCh37] Chr3:3q24	pathogenic
NM_182943.3(PLOD2):c.1230C>G (p.Asn410Lys)	single nucleotide variant	not provided [RCV001952772]	Chr3:146085171 [GRCh38] Chr3:145802958 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.475A>T (p.Ile159Phe)	single nucleotide variant	Inborn genetic diseases [RCV004044144]\|Osteogenesis imperfecta [RCV002276935]\|not provided [RCV001919368]	Chr3:146110312 [GRCh38] Chr3:145828099 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1359-5T>A	single nucleotide variant	not provided [RCV001937066]	Chr3:146079262 [GRCh38] Chr3:145797049 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.89A>C (p.Lys30Thr)	single nucleotide variant	Inborn genetic diseases [RCV004956064]\|not provided [RCV001995902]	Chr3:146160901 [GRCh38] Chr3:145878688 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.4G>C (p.Gly2Arg)	single nucleotide variant	not provided [RCV001934264]	Chr3:146160986 [GRCh38] Chr3:145878773 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1319G>A (p.Arg440Gln)	single nucleotide variant	not provided [RCV001876755]	Chr3:146081777 [GRCh38] Chr3:145799564 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1271T>A (p.Leu424Gln)	single nucleotide variant	not provided [RCV002012843]	Chr3:146081825 [GRCh38] Chr3:145799612 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.627C>T (p.Asn209=)	single nucleotide variant	PLOD2-related disorder [RCV003951253]\|not provided [RCV002146061]	Chr3:146104331 [GRCh38] Chr3:145822118 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.109+11C>A	single nucleotide variant	not provided [RCV002165801]	Chr3:146160870 [GRCh38] Chr3:145878657 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.202-18T>C	single nucleotide variant	not provided [RCV002190203]	Chr3:146121266 [GRCh38] Chr3:145839053 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1563+17T>C	single nucleotide variant	not provided [RCV002129943]	Chr3:146077845 [GRCh38] Chr3:145795632 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1848+12T>C	single nucleotide variant	not provided [RCV002173522]	Chr3:146072549 [GRCh38] Chr3:145790336 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1232+17G>A	single nucleotide variant	not provided [RCV002197254]	Chr3:146085152 [GRCh38] Chr3:145802939 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1107G>A (p.Ala369=)	single nucleotide variant	not provided [RCV002134513]	Chr3:146086807 [GRCh38] Chr3:145804594 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.338+15C>G	single nucleotide variant	not provided [RCV002150291]	Chr3:146121097 [GRCh38] Chr3:145838884 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1833T>C (p.Ser611=)	single nucleotide variant	not provided [RCV002205418]	Chr3:146072576 [GRCh38] Chr3:145790363 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1563+16dup	duplication	not provided [RCV002196356]	Chr3:146077845..146077846 [GRCh38] Chr3:145795632..145795633 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1233-23AC[5]	microsatellite	not provided [RCV002171577]	Chr3:146081878..146081879 [GRCh38] Chr3:145799665..145799666 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1233-18C>T	single nucleotide variant	not provided [RCV002150625]	Chr3:146081881 [GRCh38] Chr3:145799668 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.255A>G (p.Gly85=)	single nucleotide variant	not provided [RCV002192929]	Chr3:146121195 [GRCh38] Chr3:145838982 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1189T>C (p.Leu397=)	single nucleotide variant	not provided [RCV002114616]	Chr3:146085212 [GRCh38] Chr3:145802999 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.492G>C (p.Leu164=)	single nucleotide variant	not provided [RCV002199361]	Chr3:146110295 [GRCh38] Chr3:145828082 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.778-20C>A	single nucleotide variant	not provided [RCV002138934]	Chr3:146091921 [GRCh38] Chr3:145809708 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.679+18C>T	single nucleotide variant	not provided [RCV002138935]	Chr3:146104261 [GRCh38] Chr3:145822048 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1678-17T>C	single nucleotide variant	not provided [RCV002178936]	Chr3:146073369 [GRCh38] Chr3:145791156 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1564-16A>G	single nucleotide variant	not provided [RCV002154491]	Chr3:146076911 [GRCh38] Chr3:145794698 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.2121+9G>C	single nucleotide variant	not provided [RCV002219249]\|not specified [RCV004700600]	Chr3:146071033 [GRCh38] Chr3:145788820 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1006-20A>G	single nucleotide variant	not provided [RCV002161403]	Chr3:146086928 [GRCh38] Chr3:145804715 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1996-19G>A	single nucleotide variant	not provided [RCV002142914]	Chr3:146071186 [GRCh38] Chr3:145788973 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.679+14A>G	single nucleotide variant	not provided [RCV002159749]	Chr3:146104265 [GRCh38] Chr3:145822052 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1995+19C>G	single nucleotide variant	not provided [RCV002198335]	Chr3:146071258 [GRCh38] Chr3:145789045 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1233-19A>G	single nucleotide variant	not provided [RCV002198618]	Chr3:146081882 [GRCh38] Chr3:145799669 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1232+16C>A	single nucleotide variant	not provided [RCV002118639]	Chr3:146085153 [GRCh38] Chr3:145802940 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.616-13T>C	single nucleotide variant	not provided [RCV002178758]	Chr3:146104355 [GRCh38] Chr3:145822142 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1017T>C (p.His339=)	single nucleotide variant	not provided [RCV003112502]	Chr3:146086897 [GRCh38] Chr3:145804684 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1582T>C (p.Ser528Pro)	single nucleotide variant	not provided [RCV003115527]	Chr3:146076877 [GRCh38] Chr3:145794664 [GRCh37] Chr3:3q24	uncertain significance
NC_000003.11:g.(?_145788504)_(145878776_?)dup	duplication	not provided [RCV003113940]	Chr3:145788504..145878776 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1406G>A (p.Gly469Glu)	single nucleotide variant	not specified [RCV002248105]	Chr3:146079210 [GRCh38] Chr3:145796997 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.509T>A (p.Ile170Asn)	single nucleotide variant	not provided [RCV002296999]	Chr3:146106638 [GRCh38] Chr3:145824425 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.153A>G (p.Gly51=)	single nucleotide variant	Osteogenesis imperfecta [RCV002277827]	Chr3:146124186 [GRCh38] Chr3:145841973 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.898A>G (p.Ile300Val)	single nucleotide variant	Inborn genetic diseases [RCV004047519]\|Osteogenesis imperfecta [RCV002277828]	Chr3:146088693 [GRCh38] Chr3:145806480 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1855C>G (p.Arg619Gly)	single nucleotide variant	not provided [RCV002291904]	Chr3:146071417 [GRCh38] Chr3:145789204 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.648C>A (p.Cys216Ter)	single nucleotide variant	Bruck syndrome 2 [RCV002267184]	Chr3:146104310 [GRCh38] Chr3:145822097 [GRCh37] Chr3:3q24	pathogenic
NM_182943.3(PLOD2):c.764A>T (p.Asn255Ile)	single nucleotide variant	not provided [RCV002283217]	Chr3:146102768 [GRCh38] Chr3:145820555 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1958C>G (p.Pro653Arg)	single nucleotide variant	Bruck syndrome 2 [RCV002283921]\|not provided [RCV003096377]	Chr3:146071314 [GRCh38] Chr3:145789101 [GRCh37] Chr3:3q24	pathogenic\|uncertain significance
GRCh37/hg19 3q24(chr3:145694358-146217695)x3	copy number gain	not provided [RCV002472432]	Chr3:145694358..146217695 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1437G>T (p.Arg479Ser)	single nucleotide variant	not provided [RCV002464889]	Chr3:146079179 [GRCh38] Chr3:145796966 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1291G>T (p.Ala431Ser)	single nucleotide variant	not provided [RCV002303824]	Chr3:146081805 [GRCh38] Chr3:145799592 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.393G>T (p.Lys131Asn)	single nucleotide variant	not provided [RCV002299323]	Chr3:146110394 [GRCh38] Chr3:145828181 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.797G>T (p.Gly266Val)	single nucleotide variant	not provided [RCV002968092]	Chr3:146091882 [GRCh38] Chr3:145809669 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.483A>G (p.Lys161=)	single nucleotide variant	not provided [RCV002614540]	Chr3:146110304 [GRCh38] Chr3:145828091 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1501-6T>C	single nucleotide variant	not provided [RCV002839482]	Chr3:146077930 [GRCh38] Chr3:145795717 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2094A>C (p.Ala698=)	single nucleotide variant	not provided [RCV002756583]	Chr3:146071069 [GRCh38] Chr3:145788856 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.306T>C (p.Asp102=)	single nucleotide variant	not provided [RCV002690487]	Chr3:146121144 [GRCh38] Chr3:145838931 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1834G>C (p.Gly612Arg)	single nucleotide variant	not provided [RCV002613444]	Chr3:146072575 [GRCh38] Chr3:145790362 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.880-11G>A	single nucleotide variant	not provided [RCV002750491]	Chr3:146088722 [GRCh38] Chr3:145806509 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1996-5T>G	single nucleotide variant	not provided [RCV002681392]	Chr3:146071172 [GRCh38] Chr3:145788959 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1563+3G>C	single nucleotide variant	not provided [RCV002731572]	Chr3:146077859 [GRCh38] Chr3:145795646 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.947A>G (p.Asp316Gly)	single nucleotide variant	Inborn genetic diseases [RCV002970964]\|not provided [RCV002970963]	Chr3:146088644 [GRCh38] Chr3:145806431 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1009G>A (p.Val337Ile)	single nucleotide variant	Inborn genetic diseases [RCV002907540]	Chr3:146086905 [GRCh38] Chr3:145804692 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.485G>A (p.Arg162His)	single nucleotide variant	not provided [RCV002614153]	Chr3:146110302 [GRCh38] Chr3:145828089 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2127T>C (p.Gly709=)	single nucleotide variant	not provided [RCV002991621]	Chr3:146070867 [GRCh38] Chr3:145788654 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.257G>A (p.Gly86Glu)	single nucleotide variant	not provided [RCV003097566]	Chr3:146121193 [GRCh38] Chr3:145838980 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.53A>C (p.His18Pro)	single nucleotide variant	Inborn genetic diseases [RCV002818686]	Chr3:146160937 [GRCh38] Chr3:145878724 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.503-7G>T	single nucleotide variant	not provided [RCV002786072]	Chr3:146106651 [GRCh38] Chr3:145824438 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1940T>C (p.Ile647Thr)	single nucleotide variant	not provided [RCV003081575]	Chr3:146071332 [GRCh38] Chr3:145789119 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.872C>T (p.Ala291Val)	single nucleotide variant	not provided [RCV002663117]	Chr3:146091807 [GRCh38] Chr3:145809594 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1842A>T (p.Lys614Asn)	single nucleotide variant	not provided [RCV003001832]	Chr3:146072567 [GRCh38] Chr3:145790354 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1899C>G (p.His633Gln)	single nucleotide variant	not provided [RCV002796864]	Chr3:146071373 [GRCh38] Chr3:145789160 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2224C>G (p.Leu742Val)	single nucleotide variant	not provided [RCV002976201]	Chr3:146070770 [GRCh38] Chr3:145788557 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.97A>T (p.Ser33Cys)	single nucleotide variant	not provided [RCV002620655]	Chr3:146160893 [GRCh38] Chr3:145878680 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1564-6A>G	single nucleotide variant	not provided [RCV002927026]	Chr3:146076901 [GRCh38] Chr3:145794688 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.58T>G (p.Trp20Gly)	single nucleotide variant	not provided [RCV002949340]	Chr3:146160932 [GRCh38] Chr3:145878719 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.437C>A (p.Pro146Gln)	single nucleotide variant	Inborn genetic diseases [RCV002757462]	Chr3:146110350 [GRCh38] Chr3:145828137 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.203T>A (p.Val68Asp)	single nucleotide variant	not provided [RCV002791427]	Chr3:146121247 [GRCh38] Chr3:145839034 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1006-6T>G	single nucleotide variant	not provided [RCV002894127]	Chr3:146086914 [GRCh38] Chr3:145804701 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.462T>G (p.Tyr154Ter)	single nucleotide variant	not provided [RCV003059104]	Chr3:146110325 [GRCh38] Chr3:145828112 [GRCh37] Chr3:3q24	pathogenic
NM_182943.3(PLOD2):c.325A>C (p.Met109Leu)	single nucleotide variant	not provided [RCV002740708]	Chr3:146121125 [GRCh38] Chr3:145838912 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1426A>T (p.Met476Leu)	single nucleotide variant	not provided [RCV002643486]	Chr3:146079190 [GRCh38] Chr3:145796977 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1233-23AC[3]	microsatellite	not provided [RCV002790622]	Chr3:146081879..146081880 [GRCh38] Chr3:145799666..145799667 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1458A>G (p.Lys486=)	single nucleotide variant	not provided [RCV002625923]	Chr3:146079158 [GRCh38] Chr3:145796945 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1220T>A (p.Ile407Asn)	single nucleotide variant	Inborn genetic diseases [RCV004958648]\|not provided [RCV002626643]	Chr3:146085181 [GRCh38] Chr3:145802968 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2268A>G (p.Ile756Met)	single nucleotide variant	not provided [RCV002667285]	Chr3:146070726 [GRCh38] Chr3:145788513 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.892G>C (p.Val298Leu)	single nucleotide variant	Inborn genetic diseases [RCV002826366]	Chr3:146088699 [GRCh38] Chr3:145806486 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1689A>C (p.Glu563Asp)	single nucleotide variant	not provided [RCV003086733]	Chr3:146073341 [GRCh38] Chr3:145791128 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1567G>A (p.Val523Ile)	single nucleotide variant	not provided [RCV002601162]	Chr3:146076892 [GRCh38] Chr3:145794679 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2222G>A (p.Gly741Glu)	single nucleotide variant	not provided [RCV002720228]	Chr3:146070772 [GRCh38] Chr3:145788559 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.406G>C (p.Val136Leu)	single nucleotide variant	Inborn genetic diseases [RCV002920690]	Chr3:146110381 [GRCh38] Chr3:145828168 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2074A>G (p.Thr692Ala)	single nucleotide variant	Inborn genetic diseases [RCV002792819]	Chr3:146071089 [GRCh38] Chr3:145788876 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.74G>T (p.Gly25Val)	single nucleotide variant	not provided [RCV002899561]	Chr3:146160916 [GRCh38] Chr3:145878703 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1359-17C>G	single nucleotide variant	not provided [RCV002672111]	Chr3:146079274 [GRCh38] Chr3:145797061 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.124A>G (p.Ile42Val)	single nucleotide variant	not provided [RCV002600080]	Chr3:146124215 [GRCh38] Chr3:145842002 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.468T>G (p.Val156=)	single nucleotide variant	not provided [RCV002791905]	Chr3:146110319 [GRCh38] Chr3:145828106 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1069A>G (p.Ile357Val)	single nucleotide variant	not provided [RCV002717377]	Chr3:146086845 [GRCh38] Chr3:145804632 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.530A>G (p.Asn177Ser)	single nucleotide variant	not provided [RCV003060603]	Chr3:146106617 [GRCh38] Chr3:145824404 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1703G>A (p.Arg568His)	single nucleotide variant	not provided [RCV002961971]	Chr3:146073327 [GRCh38] Chr3:145791114 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1139G>A (p.Arg380His)	single nucleotide variant	not provided [RCV002581904]	Chr3:146085262 [GRCh38] Chr3:145803049 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1813G>A (p.Glu605Lys)	single nucleotide variant	not provided [RCV002856207]	Chr3:146072596 [GRCh38] Chr3:145790383 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.143A>G (p.Glu48Gly)	single nucleotide variant	not provided [RCV002601962]	Chr3:146124196 [GRCh38] Chr3:145841983 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2039G>A (p.Arg680Gln)	single nucleotide variant	not provided [RCV003086524]	Chr3:146071124 [GRCh38] Chr3:145788911 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.49C>T (p.Leu17Phe)	single nucleotide variant	not provided [RCV002603957]	Chr3:146160941 [GRCh38] Chr3:145878728 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.364C>T (p.Pro122Ser)	single nucleotide variant	not provided [RCV003069889]	Chr3:146110423 [GRCh38] Chr3:145828210 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.364C>G (p.Pro122Ala)	single nucleotide variant	not provided [RCV003049489]	Chr3:146110423 [GRCh38] Chr3:145828210 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1468G>T (p.Asp490Tyr)	single nucleotide variant	not provided [RCV002605711]	Chr3:146079148 [GRCh38] Chr3:145796935 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1849-18C>T	single nucleotide variant	not provided [RCV002604177]	Chr3:146071441 [GRCh38] Chr3:145789228 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.565GAT[4] (p.Asp191_Gln192insAsp)	microsatellite	not provided [RCV002606416]	Chr3:146106573..146106574 [GRCh38] Chr3:145824360..145824361 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.879T>C (p.Asp293=)	single nucleotide variant	not provided [RCV002588810]	Chr3:146091800 [GRCh38] Chr3:145809587 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1558C>A (p.Pro520Thr)	single nucleotide variant	not provided [RCV002589728]	Chr3:146077867 [GRCh38] Chr3:145795654 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.27G>A (p.Gln9=)	single nucleotide variant	not provided [RCV003073470]	Chr3:146160963 [GRCh38] Chr3:145878750 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.679+19G>A	single nucleotide variant	not provided [RCV002589312]	Chr3:146104260 [GRCh38] Chr3:145822047 [GRCh37] Chr3:3q24	likely benign\|uncertain significance
NM_182943.3(PLOD2):c.2170C>T (p.Arg724Ter)	single nucleotide variant	not specified [RCV003155785]	Chr3:146070824 [GRCh38] Chr3:145788611 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.877G>A (p.Asp293Asn)	single nucleotide variant	not provided [RCV004792146]	Chr3:146091802 [GRCh38] Chr3:145809589 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1981G>A (p.Gly661Ser)	single nucleotide variant	Inborn genetic diseases [RCV003214856]	Chr3:146071291 [GRCh38] Chr3:145789078 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1447G>A (p.Val483Ile)	single nucleotide variant	Inborn genetic diseases [RCV003186071]	Chr3:146079169 [GRCh38] Chr3:145796956 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.205C>T (p.Leu69Phe)	single nucleotide variant	Inborn genetic diseases [RCV003282493]	Chr3:146121245 [GRCh38] Chr3:145839032 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2143A>G (p.Arg715Gly)	single nucleotide variant	Bruck syndrome 2 [RCV003135049]	Chr3:146070851 [GRCh38] Chr3:145788638 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.103C>G (p.Pro35Ala)	single nucleotide variant	Inborn genetic diseases [RCV003209713]	Chr3:146160887 [GRCh38] Chr3:145878674 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2122-2A>G	single nucleotide variant	PLOD2-related disorder [RCV003420657]\|not provided [RCV003323144]\|not specified [RCV003331545]	Chr3:146070874 [GRCh38] Chr3:145788661 [GRCh37] Chr3:3q24	pathogenic\|likely pathogenic\|uncertain significance
NM_182943.3(PLOD2):c.1318C>T (p.Arg440Ter)	single nucleotide variant	Bruck syndrome 2 [RCV005036735]\|not provided [RCV003319893]	Chr3:146081778 [GRCh38] Chr3:145799565 [GRCh37] Chr3:3q24	pathogenic\|likely pathogenic
NM_182943.3(PLOD2):c.1872T>G (p.Tyr624Ter)	single nucleotide variant	Bruck syndrome 2 [RCV003330303]	Chr3:146071400 [GRCh38] Chr3:145789187 [GRCh37] Chr3:3q24	likely pathogenic
NM_182943.3(PLOD2):c.1128-13T>C	single nucleotide variant	not provided [RCV003328842]	Chr3:146085286 [GRCh38] Chr3:145803073 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1670A>G (p.Asn557Ser)	single nucleotide variant	not provided [RCV003387693]	Chr3:146076789 [GRCh38] Chr3:145794576 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2122-8T>A	single nucleotide variant	PLOD2-related disorder [RCV003973798]\|not specified [RCV003331996]	Chr3:146070880 [GRCh38] Chr3:145788667 [GRCh37] Chr3:3q24	likely benign\|uncertain significance
NM_182943.3(PLOD2):c.547T>C (p.Trp183Arg)	single nucleotide variant	Inborn genetic diseases [RCV003375928]	Chr3:146106600 [GRCh38] Chr3:145824387 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1493G>T (p.Arg498Ile)	single nucleotide variant	Inborn genetic diseases [RCV003369749]	Chr3:146079123 [GRCh38] Chr3:145796910 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.691T>G (p.Leu231Val)	single nucleotide variant	Inborn genetic diseases [RCV003366701]	Chr3:146102841 [GRCh38] Chr3:145820628 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.818G>A (p.Trp273Ter)	single nucleotide variant	not provided [RCV003570664]	Chr3:146091861 [GRCh38] Chr3:145809648 [GRCh37] Chr3:3q24	pathogenic
NM_182943.3(PLOD2):c.777+9C>T	single nucleotide variant	not provided [RCV003543330]	Chr3:146102746 [GRCh38] Chr3:145820533 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1854C>T (p.Ser618=)	single nucleotide variant	not provided [RCV003875220]	Chr3:146071418 [GRCh38] Chr3:145789205 [GRCh37] Chr3:3q24	likely benign
Single allele	duplication	not provided [RCV003448680]	Chr3:140154329..197847235 [GRCh37] Chr3:3q23-29	pathogenic
NM_182943.3(PLOD2):c.1179A>C (p.Ala393=)	single nucleotide variant	not provided [RCV003457115]	Chr3:146085222 [GRCh38] Chr3:145803009 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.971C>T (p.Pro324Leu)	single nucleotide variant	Inborn genetic diseases [RCV004961291]\|PLOD2-related disorder [RCV003419172]	Chr3:146088620 [GRCh38] Chr3:145806407 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1005+15A>G	single nucleotide variant	not specified [RCV003405089]	Chr3:146088571 [GRCh38] Chr3:145806358 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.742T>C (p.Leu248=)	single nucleotide variant	not provided [RCV003437957]	Chr3:146102790 [GRCh38] Chr3:145820577 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1996-9C>A	single nucleotide variant	not provided [RCV003715766]	Chr3:146071176 [GRCh38] Chr3:145788963 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1500+9T>C	single nucleotide variant	not provided [RCV003830785]	Chr3:146079107 [GRCh38] Chr3:145796894 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1345del (p.Gln449fs)	deletion	not provided [RCV003661802]	Chr3:146081751 [GRCh38] Chr3:145799538 [GRCh37] Chr3:3q24	pathogenic
NM_182943.3(PLOD2):c.2122-4_2122-3del	deletion	not provided [RCV003693930]	Chr3:146070875..146070876 [GRCh38] Chr3:145788662..145788663 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1359-7C>T	single nucleotide variant	not provided [RCV003687844]	Chr3:146079264 [GRCh38] Chr3:145797051 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1744-20C>T	single nucleotide variant	not provided [RCV003829257]	Chr3:146072685 [GRCh38] Chr3:145790472 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.201+1G>T	single nucleotide variant	not provided [RCV003716152]	Chr3:146124137 [GRCh38] Chr3:145841924 [GRCh37] Chr3:3q24	likely pathogenic
NM_182943.3(PLOD2):c.1359-15T>G	single nucleotide variant	not provided [RCV003827803]	Chr3:146079272 [GRCh38] Chr3:145797059 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1563+19T>C	single nucleotide variant	not provided [RCV003693336]	Chr3:146077843 [GRCh38] Chr3:145795630 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1712del (p.Tyr570_Ser571insTer)	deletion	not provided [RCV003545308]	Chr3:146073318 [GRCh38] Chr3:145791105 [GRCh37] Chr3:3q24	pathogenic
NM_182943.3(PLOD2):c.2122-3del	deletion	not provided [RCV003832369]	Chr3:146070875 [GRCh38] Chr3:145788662 [GRCh37] Chr3:3q24	benign
NM_182943.3(PLOD2):c.1533G>A (p.Pro511=)	single nucleotide variant	not provided [RCV003834682]	Chr3:146077892 [GRCh38] Chr3:145795679 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1996-18C>T	single nucleotide variant	not provided [RCV003811486]	Chr3:146071185 [GRCh38] Chr3:145788972 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1358+9C>T	single nucleotide variant	not provided [RCV003836126]	Chr3:146081729 [GRCh38] Chr3:145799516 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.534T>C (p.Arg178=)	single nucleotide variant	not provided [RCV003832585]	Chr3:146106613 [GRCh38] Chr3:145824400 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1156G>A (p.Asp386Asn)	single nucleotide variant	not provided [RCV003724556]	Chr3:146085245 [GRCh38] Chr3:145803032 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1500+8A>G	single nucleotide variant	not provided [RCV003668810]	Chr3:146079108 [GRCh38] Chr3:145796895 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1089A>G (p.Glu363=)	single nucleotide variant	not provided [RCV003659441]	Chr3:146086825 [GRCh38] Chr3:145804612 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1293A>G (p.Ala431=)	single nucleotide variant	not provided [RCV003838922]	Chr3:146081803 [GRCh38] Chr3:145799590 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.603T>C (p.Asp201=)	single nucleotide variant	not provided [RCV003664606]	Chr3:146106544 [GRCh38] Chr3:145824331 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.339-20A>G	single nucleotide variant	not provided [RCV003838923]	Chr3:146110468 [GRCh38] Chr3:145828255 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1653C>A (p.Leu551=)	single nucleotide variant	not provided [RCV003706398]	Chr3:146076806 [GRCh38] Chr3:145794593 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.893dup (p.Ser299fs)	duplication	not provided [RCV003681284]	Chr3:146088697..146088698 [GRCh38] Chr3:145806484..145806485 [GRCh37] Chr3:3q24	pathogenic
NM_182943.3(PLOD2):c.261C>A (p.Gly87=)	single nucleotide variant	not provided [RCV003551612]	Chr3:146121189 [GRCh38] Chr3:145838976 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1459C>T (p.Leu487=)	single nucleotide variant	not provided [RCV003734335]	Chr3:146079157 [GRCh38] Chr3:145796944 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.778-4C>T	single nucleotide variant	not provided [RCV003845553]	Chr3:146091905 [GRCh38] Chr3:145809692 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1678-4A>G	single nucleotide variant	not provided [RCV003869135]	Chr3:146073356 [GRCh38] Chr3:145791143 [GRCh37] Chr3:3q24	likely benign
GRCh37/hg19 3q24(chr3:144717495-148147770)x1	copy number loss	not specified [RCV003986432]	Chr3:144717495..148147770 [GRCh37] Chr3:3q24	pathogenic
NM_182943.3(PLOD2):c.1512G>A (p.Arg504=)	single nucleotide variant	not provided [RCV003685465]	Chr3:146077913 [GRCh38] Chr3:145795700 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.195T>C (p.Thr65=)	single nucleotide variant	not provided [RCV003861976]	Chr3:146124144 [GRCh38] Chr3:145841931 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.484C>T (p.Arg162Cys)	single nucleotide variant	Bruck syndrome 2 [RCV003990786]	Chr3:146110303 [GRCh38] Chr3:145828090 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1848+1G>T	single nucleotide variant	Bruck syndrome 2 [RCV003990202]	Chr3:146072560 [GRCh38] Chr3:145790347 [GRCh37] Chr3:3q24	likely pathogenic
NM_182943.3(PLOD2):c.1868G>C (p.Gly623Ala)	single nucleotide variant	Inborn genetic diseases [RCV004506678]	Chr3:146071404 [GRCh38] Chr3:145789191 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1955C>T (p.Ala652Val)	single nucleotide variant	Inborn genetic diseases [RCV004506679]	Chr3:146071317 [GRCh38] Chr3:145789104 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.611A>C (p.Lys204Thr)	single nucleotide variant	Inborn genetic diseases [RCV004506680]	Chr3:146106536 [GRCh38] Chr3:145824323 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.917A>G (p.Gln306Arg)	single nucleotide variant	Inborn genetic diseases [RCV004506681]	Chr3:146088674 [GRCh38] Chr3:145806461 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1076T>G (p.Ile359Arg)	single nucleotide variant	Inborn genetic diseases [RCV004506675]	Chr3:146086838 [GRCh38] Chr3:145804625 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1230C>A (p.Asn410Lys)	single nucleotide variant	Inborn genetic diseases [RCV004506676]	Chr3:146085171 [GRCh38] Chr3:145802958 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.808C>T (p.Pro270Ser)	single nucleotide variant	Inborn genetic diseases [RCV004651398]	Chr3:146091871 [GRCh38] Chr3:145809658 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.2057C>T (p.Pro686Leu)	single nucleotide variant	not specified [RCV004587937]	Chr3:146071106 [GRCh38] Chr3:145788893 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.421G>T (p.Asp141Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004651399]	Chr3:146110366 [GRCh38] Chr3:145828153 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.883C>T (p.His295Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004651400]	Chr3:146088708 [GRCh38] Chr3:145806495 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.2121+4A>T	single nucleotide variant	not specified [RCV004766712]	Chr3:146071038 [GRCh38] Chr3:145788825 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.280A>G (p.Lys94Glu)	single nucleotide variant	PLOD2-related disorder [RCV004752336]	Chr3:146121170 [GRCh38] Chr3:145838957 [GRCh37] Chr3:3q24	uncertain significance
NC_000003.11:g.(145804696_145806372)_(145809689_145820541)del	deletion	not specified [RCV004766483]	Chr3:145806372..145809689 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1995+7A>G	single nucleotide variant	PLOD2-related disorder [RCV004751051]	Chr3:146071270 [GRCh38] Chr3:145789057 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1967T>G (p.Leu656Arg)	single nucleotide variant	not provided [RCV004762952]		uncertain significance
NM_182943.3(PLOD2):c.1134T>C (p.Phe378=)	single nucleotide variant	PLOD2-related disorder [RCV004752218]	Chr3:146085267 [GRCh38] Chr3:145803054 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1754A>T (p.Asp585Val)	single nucleotide variant	Bruck syndrome 2 [RCV004765443]		likely pathogenic
NM_182943.3(PLOD2):c.319del (p.Val107fs)	deletion	PLOD2-related disorder [RCV004752253]	Chr3:146121131 [GRCh38] Chr3:145838918 [GRCh37] Chr3:3q24	likely pathogenic
NM_182943.3(PLOD2):c.259G>A (p.Gly87Ser)	single nucleotide variant	Inborn genetic diseases [RCV004962277]	Chr3:146121191 [GRCh38] Chr3:145838978 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.922A>T (p.Thr308Ser)	single nucleotide variant	Inborn genetic diseases [RCV004962278]	Chr3:146088669 [GRCh38] Chr3:145806456 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1399A>C (p.Ile467Leu)	single nucleotide variant	Inborn genetic diseases [RCV004962275]	Chr3:146079217 [GRCh38] Chr3:145797004 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.589A>G (p.Lys197Glu)	single nucleotide variant	Inborn genetic diseases [RCV004962276]	Chr3:146106558 [GRCh38] Chr3:145824345 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1250T>C (p.Leu417Pro)	single nucleotide variant	Inborn genetic diseases [RCV004962279]	Chr3:146081846 [GRCh38] Chr3:145799633 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.614G>T (p.Arg205Met)	single nucleotide variant	Inborn genetic diseases [RCV004962274]	Chr3:146106533 [GRCh38] Chr3:145824320 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1359-1G>A	single nucleotide variant	Bruck syndrome 2 [RCV005031279]	Chr3:146079258 [GRCh38] Chr3:145797045 [GRCh37] Chr3:3q24	likely pathogenic
NM_182943.3(PLOD2):c.502G>T (p.Gly168Ter)	single nucleotide variant	Bruck syndrome 2 [RCV005031280]	Chr3:146110285 [GRCh38] Chr3:145828072 [GRCh37] Chr3:3q24	likely pathogenic
NM_182943.3(PLOD2):c.202-2A>G	single nucleotide variant	Bruck syndrome 2 [RCV005031281]	Chr3:146121250 [GRCh38] Chr3:145839037 [GRCh37] Chr3:3q24	likely pathogenic
NM_182943.3(PLOD2):c.396A>G (p.Ala132=)	single nucleotide variant	not provided [RCV005105685]	Chr3:146110391 [GRCh38] Chr3:145828178 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.2170C>A (p.Arg724=)	single nucleotide variant	not provided [RCV005068152]	Chr3:146070824 [GRCh38] Chr3:145788611 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.201+18A>G	single nucleotide variant	not provided [RCV005174192]	Chr3:146124120 [GRCh38] Chr3:145841907 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1678-16G>A	single nucleotide variant	not provided [RCV005085177]	Chr3:146073368 [GRCh38] Chr3:145791155 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1635C>G (p.Ser545=)	single nucleotide variant	not provided [RCV005086771]	Chr3:146076824 [GRCh38] Chr3:145794611 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1127+12T>C	single nucleotide variant	not provided [RCV005174826]	Chr3:146086775 [GRCh38] Chr3:145804562 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.778-20C>T	single nucleotide variant	not provided [RCV005065562]	Chr3:146091921 [GRCh38] Chr3:145809708 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1500+16A>G	single nucleotide variant	not provided [RCV005066353]	Chr3:146079100 [GRCh38] Chr3:145796887 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1744-18A>G	single nucleotide variant	not provided [RCV005065674]	Chr3:146072683 [GRCh38] Chr3:145790470 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1233-10C>T	single nucleotide variant	not provided [RCV005155790]	Chr3:146081873 [GRCh38] Chr3:145799660 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1968G>A (p.Leu656=)	single nucleotide variant	not provided [RCV005070840]	Chr3:146071304 [GRCh38] Chr3:145789091 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.2136A>G (p.Lys712=)	single nucleotide variant	not provided [RCV005077308]	Chr3:146070858 [GRCh38] Chr3:145788645 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.2121+13C>T	single nucleotide variant	not provided [RCV005131137]	Chr3:146071029 [GRCh38] Chr3:145788816 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.778-19C>T	single nucleotide variant	not provided [RCV005079917]	Chr3:146091920 [GRCh38] Chr3:145809707 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.338+12A>G	single nucleotide variant	not provided [RCV005130129]	Chr3:146121100 [GRCh38] Chr3:145838887 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1358+20A>G	single nucleotide variant	not provided [RCV005131465]	Chr3:146081718 [GRCh38] Chr3:145799505 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1849-11G>A	single nucleotide variant	not provided [RCV005108713]	Chr3:146071434 [GRCh38] Chr3:145789221 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.36C>T (p.Leu12=)	single nucleotide variant	not provided [RCV005071193]	Chr3:146160954 [GRCh38] Chr3:145878741 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.736G>C (p.Glu246Gln)	single nucleotide variant	not provided [RCV005207463]	Chr3:146102796 [GRCh38] Chr3:145820583 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1006-14A>G	single nucleotide variant	not provided [RCV005081287]	Chr3:146086922 [GRCh38] Chr3:145804709 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1743+14A>C	single nucleotide variant	not provided [RCV005159036]	Chr3:146073273 [GRCh38] Chr3:145791060 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.58del (p.Trp20fs)	deletion	not provided [RCV005197140]	Chr3:146160932 [GRCh38] Chr3:145878719 [GRCh37] Chr3:3q24	pathogenic
NM_182943.3(PLOD2):c.1127+10A>G	single nucleotide variant	not provided [RCV005206647]	Chr3:146086777 [GRCh38] Chr3:145804564 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1677+20C>T	single nucleotide variant	not provided [RCV005124930]	Chr3:146076762 [GRCh38] Chr3:145794549 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1262A>T (p.His421Leu)	single nucleotide variant	not provided [RCV005148789]	Chr3:146081834 [GRCh38] Chr3:145799621 [GRCh37] Chr3:3q24	uncertain significance
NM_182943.3(PLOD2):c.1744-19G>A	single nucleotide variant	not provided [RCV005071692]	Chr3:146072684 [GRCh38] Chr3:145790471 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.616-8T>C	single nucleotide variant	not provided [RCV005184099]	Chr3:146104350 [GRCh38] Chr3:145822137 [GRCh37] Chr3:3q24	likely benign
NM_182943.3(PLOD2):c.1005+10T>C	single nucleotide variant	not provided [RCV005074748]	Chr3:146088576 [GRCh38] Chr3:145806363 [GRCh37] Chr3:3q24	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	1773
Count of miRNA genes:	521
Interacting mature miRNAs:	574
Transcripts:	ENST00000282903, ENST00000360060, ENST00000460520, ENST00000461497, ENST00000469350, ENST00000475505, ENST00000478436, ENST00000480704, ENST00000494950, ENST00000495700
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1300026	BP36_H	Blood pressure QTL 36 (human)	4.04		Blood pressure	hypertension susceptibility	3	135720453	161720453	Human
1298415	BP24_H	Blood pressure QTL 24 (human)	2.9		Blood pressure	hypertension susceptibility	3	135720453	161720453	Human
597176404	GWAS1272478_H	procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 measurement QTL GWAS1272478 (human)		3e-80	procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 measurement		3	146115445	146115446	Human
597430272	GWAS1526346_H	protein measurement QTL GWAS1526346 (human)		4e-65	protein measurement		3	146133737	146133738	Human

STS-N98463

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	145,787,492 - 145,787,750	UniSTS	GRCh37
Build 36	3	147,270,182 - 147,270,440	RGD	NCBI36
Celera	3	144,204,831 - 144,205,089	RGD
Cytogenetic Map	3	q24	UniSTS
GeneMap99-GB4 RH Map	3	525.62	UniSTS
NCBI RH Map	3	1228.6	UniSTS

G16641

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	145,795,874 - 145,796,023	UniSTS	GRCh37
Build 36	3	147,278,564 - 147,278,713	RGD	NCBI36
Celera	3	144,213,223 - 144,213,372	RGD
Cytogenetic Map	3	q24	UniSTS
HuRef	3	143,172,824 - 143,172,973	UniSTS

D3S3410

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	145,860,927 - 145,861,142	UniSTS	GRCh37
Build 36	3	147,343,617 - 147,343,832	RGD	NCBI36
Celera	3	144,278,278 - 144,278,493	RGD
Cytogenetic Map	3	q24	UniSTS
HuRef	3	143,237,715 - 143,237,930	UniSTS
Whitehead-RH Map	3	661.7	UniSTS
NCBI RH Map	3	1233.6	UniSTS

G29915

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	145,788,358 - 145,788,465	UniSTS	GRCh37
Build 36	3	147,271,048 - 147,271,155	RGD	NCBI36
Celera	3	144,205,697 - 144,205,804	RGD
Cytogenetic Map	3	q24	UniSTS
HuRef	3	143,165,297 - 143,165,404	UniSTS

RH78870

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	145,788,446 - 145,788,584	UniSTS	GRCh37
Build 36	3	147,271,136 - 147,271,274	RGD	NCBI36
Celera	3	144,205,785 - 144,205,923	RGD
Cytogenetic Map	3	q24	UniSTS
HuRef	3	143,165,385 - 143,165,523	UniSTS
GeneMap99-GB4 RH Map	3	531.82	UniSTS
NCBI RH Map	3	1228.6	UniSTS

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

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	renal system	reproductive system	respiratory system	sensory system
1204	2427	2788	2241	4958	1721	2346	5	622	1813	465	2268	7159	6333	50	3719	849	1734	1610	173


RefSeq Transcripts	NG_009251	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000935	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_182943	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005247535	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017006625	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024453599	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047448319	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047448320	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054346868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054346869	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054346870	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001740176	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB209879	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC092982	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC107021	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF085277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK125700	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130098	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK295084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL832238	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY026757	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC016834	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC037169	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM724669	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX537521	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471052	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC788822	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U84573	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000282903 ⟹ ENSP00000282903

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,440 - 146,161,184 (-)	Ensembl

Ensembl Acc Id:

ENST00000360060 ⟹ ENSP00000353170

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,444 - 146,161,167 (-)	Ensembl

Ensembl Acc Id:

ENST00000460520

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,081,791 - 146,088,815 (-)	Ensembl

Ensembl Acc Id:

ENST00000461497 ⟹ ENSP00000419354

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,440 - 146,085,889 (-)	Ensembl

Ensembl Acc Id:

ENST00000469350 ⟹ ENSP00000419963

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,371 - 146,163,653 (-)	Ensembl

Ensembl Acc Id:

ENST00000475505

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,072,557 - 146,073,657 (-)	Ensembl

Ensembl Acc Id:

ENST00000478436

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,075,925 - 146,086,735 (-)	Ensembl

Ensembl Acc Id:

ENST00000480704 ⟹ ENSP00000419880

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,371 - 146,161,167 (-)	Ensembl

Ensembl Acc Id:

ENST00000494950 ⟹ ENSP00000420094

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,070,181 - 146,160,992 (-)	Ensembl

Ensembl Acc Id:

ENST00000495700

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,070,241 - 146,071,170 (-)	Ensembl

Ensembl Acc Id:

ENST00000703517

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,035,139 - 146,121,251 (-)	Ensembl

Ensembl Acc Id:

ENST00000703518 ⟹ ENSP00000515350

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,427 - 146,163,725 (-)	Ensembl

Ensembl Acc Id:

ENST00000703519

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,436 - 146,124,231 (-)	Ensembl

Ensembl Acc Id:

ENST00000703520 ⟹ ENSP00000515351

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,436 - 146,161,332 (-)	Ensembl

Ensembl Acc Id:

ENST00000703521 ⟹ ENSP00000515352

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,437 - 146,161,494 (-)	Ensembl

Ensembl Acc Id:

ENST00000703522 ⟹ ENSP00000515353

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,440 - 146,161,495 (-)	Ensembl

Ensembl Acc Id:

ENST00000703523 ⟹ ENSP00000515354

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,440 - 146,161,495 (-)	Ensembl

Ensembl Acc Id:

ENST00000703524

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,449 - 146,106,669 (-)	Ensembl

Ensembl Acc Id:

ENST00000703525

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,479 - 146,161,184 (-)	Ensembl

Ensembl Acc Id:

ENST00000703526

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,483 - 146,092,436 (-)	Ensembl

Ensembl Acc Id:

ENST00000703527 ⟹ ENSP00000515355

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,496 - 146,163,709 (-)	Ensembl

Ensembl Acc Id:

ENST00000703528 ⟹ ENSP00000515356

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,568 - 146,156,169 (-)	Ensembl

Ensembl Acc Id:

ENST00000703529 ⟹ ENSP00000515357

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,073,060 - 146,161,184 (-)	Ensembl

Ensembl Acc Id:

ENST00000706626 ⟹ ENSP00000516472

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,485 - 146,161,229 (-)	Ensembl

Ensembl Acc Id:

ENST00000706627

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,088,228 - 146,161,184 (-)	Ensembl

Ensembl Acc Id:

ENST00000706631

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,479 - 146,075,474 (-)	Ensembl

Ensembl Acc Id:

ENST00000706632

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,483 - 146,081,959 (-)	Ensembl

Ensembl Acc Id:

ENST00000706633

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,485 - 146,074,243 (-)	Ensembl

Ensembl Acc Id:

ENST00000706634

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,485 - 146,161,184 (-)	Ensembl

Ensembl Acc Id:

ENST00000706635 ⟹ ENSP00000516475

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,485 - 146,161,184 (-)	Ensembl

Ensembl Acc Id:

ENST00000706636 ⟹ ENSP00000516476

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	146,069,485 - 146,161,184 (-)	Ensembl

RefSeq Acc Id:

NM_000935 ⟹ NP_000926

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	146,069,440 - 146,161,184 (-)	NCBI
GRCh37	3	145,787,225 - 145,879,282 (-)	NCBI
Build 36	3	147,269,917 - 147,361,972 (-)	NCBI Archive
HuRef	3	143,164,166 - 143,256,088 (-)	ENTREZGENE
CHM1_1	3	145,750,160 - 145,842,267 (-)	NCBI
T2T-CHM13v2.0	3	148,824,992 - 148,916,735 (-)	NCBI

Sequence:

show sequence

GCTGCTCCGTGCCTCCACCGACGACCTCACTCAGCTGCGTTACGCGCCGCTCCGGCTGCCGGCCGCGCGCCTTGCCCGCCGGCTCCCGCCCGCAATCGGCGGCTCAGGGCGGACCCGGGTCTCTGCGT
TCTCGCGAGAAGCGCGGCGCTGCGGGGCCGTGGGCGCCTGAGCCCGCGCGGCCCTCGAGGGCCGAATATGGGGGGATGCACGGTGAAGCCTCAGCTGCTGCTCCTGGCGCTCGTCCTCCACCCCTGGA
ATCCCTGTCTGGGTGCGGACTCGGAGAAGCCCTCGAGCATCCCCACAGATAAATTATTAGTCATAACTGTAGCAACAAAAGAAAGTGATGGATTCCATCGATTTATGCAGTCAGCCAAATATTTCAAT
TATACTGTGAAGGTCCTTGGTCAAGGAGAAGAATGGAGAGGTGGTGATGGAATTAATAGTATTGGAGGGGGCCAGAAAGTGAGATTAATGAAAGAAGTCATGGAACACTATGCTGATCAAGATGATCT
GGTTGTCATGTTTACTGAATGCTTTGATGTCATATTTGCTGGTGGTCCAGAAGAAGTTCTAAAAAAATTCCAAAAGGCAAACCACAAAGTGGTCTTTGCAGCAGATGGAATTTTGTGGCCAGATAAAA
GACTAGCAGACAAGTATCCTGTTGTGCACATTGGGAAACGCTATCTGAATTCAGGAGGATTTATTGGCTATGCTCCATATGTCAACCGTATAGTTCAACAATGGAATCTCCAGGATAATGATGATGAT
CAGCTCTTTTACACTAAAGTTTACATTGATCCACTGAAAAGGGAAGCTATTAACATCACATTGGATCACAAATGCAAAATTTTCCAGACCTTAAATGGAGCTGTAGATGAAGTTGTTTTAAAATTTGA
AAATGGCAAAGCCAGAGCTAAGAATACATTTTATGAAACATTACCAGTGGCAATTAATGGAAATGGACCCACCAAGATTCTCCTGAATTATTTTGGAAACTATGTACCCAATTCATGGACACAGGATA
ATGGCTGCACTCTTTGTGAATTCGATACAGTCGACTTGTCTGCAGTAGATGTCCATCCAAACGTATCAATAGGTGTTTTTATTGAGCAACCAACCCCTTTTCTACCTCGGTTTCTGGACATATTGTTG
ACACTGGATTACCCAAAAGAAGCACTTAAACTTTTTATTCATAACAAAGAAGTTTATCATGAAAAGGACATCAAGGTATTTTTTGATAAAGCTAAGCATGAAATCAAAACTATAAAAATAGTAGGACC
AGAAGAAAATCTAAGTCAAGCGGAAGCCAGAAACATGGGAATGGACTTTTGCCGTCAGGATGAAAAGTGTGATTATTACTTTAGTGTGGATGCAGATGTTGTTTTGACAAATCCAAGGACTTTAAAAA
TTTTGATTGAACAAAACAGAAAGATCATTGCTCCTCTTGTAACTCGTCATGGAAAGCTGTGGTCCAATTTCTGGGGAGCATTGAGTCCTGATGGATACTATGCACGATCTGAAGATTATGTGGATATT
GTTCAAGGGAATAGAGTAGGAGTATGGAATGTCCCATATATGGCTAATGTGTACTTAATTAAAGGAAAGACACTCCGATCAGAGATGAATGAAAGGAACTATTTTGTTCGTGATAAACTGGATCCTGA
TATGGCTCTTTGCCGAAATGCTAGAGAAATGGGTGTATTTATGTACATTTCTAATAGACATGAATTTGGAAGGCTATTATCCACTGCTAATTACAATACTTCCCATTATAACAATGACCTCTGGCAGA
TTTTTGAAAATCCTGTGGACTGGAAGGAAAAGTATATAAACCGTGATTATTCAAAGATTTTCACTGAAAATATAGTTGAACAGCCCTGTCCAGATGTCTTTTGGTTCCCCATATTTTCTGAAAAAGCC
TGTGATGAATTGGTAGAAGAAATGGAACATTACGGCAAATGGTCTGGGGGAAAACATCATGATAGCCGTATATCTGGTGGTTATGAAAATGTCCCAACTGATGATATCCACATGAAGCAAGTTGATCT
GGAGAATGTATGGCTTCATTTTATCCGGGAGTTCATTGCACCAGTTACACTGAAGGTCTTTGCAGGCTATTATACGAAGGGATTTGCACTACTGAATTTTGTAGTAAAATACTCCCCTGAACGACAGC
GTTCTCTTCGTCCTCATCATGATGCTTCTACATTTACCATAAACATTGCACTTAATAACGTGGGAGAAGACTTTCAGGGAGGTGGTTGCAAATTTCTAAGGTACAATTGCTCTATTGAGTCACCACGA
AAAGGCTGGAGCTTCATGCATCCTGGGAGACTCACACATTTGCATGAAGGACTTCCTGTTAAAAATGGAACAAGATACATTGCAGTGTCATTTATAGATCCCTAAGTTATTTACTTTTCATTGAATTG
AAATTTATTTTGGATGAATGACTGGCATGAACACGTCTTTGAAGTTGTGGCTGAGAAGATGAGAGGAATATTTAAATAACATCAACAGAACAACTTCACTTTGGGCCAAACATTTGAAAAACTTTTTA
TAAAAAATTGTTTGATATTTCTTAATGTCTGCTCTGAGCCTTAAAACACAGATTGAAGAAGAAAAGAAAGAAAAAACTTAAATATTTATTTCTATGCTTTGTTGCCTCTGAGAATAATGACAATTTAT
GAATTTGTGTTTCAAATTGATAAAATATTTAGGTACAAATAACAAGACTAATAATATTTTCTTATTTAAAAAAAGCATGGGAAGATTTTTATTTATCAAAATATAGAGGAAATGTAGACAAAATGGAT
ATAAATGAAAATTACCATGTTGTAAAACCTTGAAAATCAGATTCTAACTGGATTTGTATGCAACTAAGTATTTTTCTGAACACCTATGCAGGTCTTATTTACAGTAGTTACTAAGGGAACACACAAAG
AATTACACAACGTTTTCCTCAAGAAAATGGTACAAAACACAACCGAGGAGCGTATACAGTTGAAAACATTTTTGTTTTGATTGGAAGGCAGATTATTTTATATTAGTATTAAAAATCAAACCCTATGT
TTCTTTCAGATGAATCTTCCAAAGTGGATTATATTAAGCAGGTATTAGATTTAGGAAAACCTTTCCATTTCTTAAAGTATTATCAAGTGTCAAGATCAGCAAGTGTCCTTAAGTCAAACAGGTTTTTT
TTGTTGTTGTTTTTGCTTTGTTTCCTTTTTTAGAAAGTTCTAGAAAATAGGAAAACGAAAAATTTCATTGAGATGAGTAGTGCATTTAATTATTTTTTAAAAAACTTTTTAAGTACTTGAATTTTATA
TCAGGAAAACAAAGTTGTTGAGCCTTGCTTCTTCCGTTTTGCCCTTTGTCTCGCTCCTTATTCTTTTTTTGGGGGGAGGGTTATTTGCTTTTTTATCTTCCTGGCATAATTTCCATTTTATTCTTCTG
AGTGTCTATGTTAACTTCCCTCTATCCCGCTTATAAAAAAATTCTCCAACAAAAATACTTGTTGACTTGATGTTTTATCACTTCTCTAAGTAAGGTTGAAATATCCTTATTGTAGCTACTGTTTTTAA
TGTAAAGGTTAAACTTGAAAAGAAATTCTTAATCACGGTGCCAAAATTCATTTTCTAACACCATGTGTTAGAAAATTATAAAAAATAAAATAATTTTAGAAA

hide sequence

RefSeq Acc Id:

NM_182943 ⟹ NP_891988

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	146,069,440 - 146,161,184 (-)	NCBI
GRCh37	3	145,787,225 - 145,879,282 (-)	NCBI
Build 36	3	147,269,917 - 147,361,972 (-)	NCBI Archive
HuRef	3	143,164,166 - 143,256,088 (-)	ENTREZGENE
CHM1_1	3	145,750,160 - 145,842,267 (-)	NCBI
T2T-CHM13v2.0	3	148,824,992 - 148,916,735 (-)	NCBI

Sequence:

show sequence

GCTGCTCCGTGCCTCCACCGACGACCTCACTCAGCTGCGTTACGCGCCGCTCCGGCTGCCGGCCGCGCGCCTTGCCCGCCGGCTCCCGCCCGCAATCGGCGGCTCAGGGCGGACCCGGGTCTCTGCGT
TCTCGCGAGAAGCGCGGCGCTGCGGGGCCGTGGGCGCCTGAGCCCGCGCGGCCCTCGAGGGCCGAATATGGGGGGATGCACGGTGAAGCCTCAGCTGCTGCTCCTGGCGCTCGTCCTCCACCCCTGGA
ATCCCTGTCTGGGTGCGGACTCGGAGAAGCCCTCGAGCATCCCCACAGATAAATTATTAGTCATAACTGTAGCAACAAAAGAAAGTGATGGATTCCATCGATTTATGCAGTCAGCCAAATATTTCAAT
TATACTGTGAAGGTCCTTGGTCAAGGAGAAGAATGGAGAGGTGGTGATGGAATTAATAGTATTGGAGGGGGCCAGAAAGTGAGATTAATGAAAGAAGTCATGGAACACTATGCTGATCAAGATGATCT
GGTTGTCATGTTTACTGAATGCTTTGATGTCATATTTGCTGGTGGTCCAGAAGAAGTTCTAAAAAAATTCCAAAAGGCAAACCACAAAGTGGTCTTTGCAGCAGATGGAATTTTGTGGCCAGATAAAA
GACTAGCAGACAAGTATCCTGTTGTGCACATTGGGAAACGCTATCTGAATTCAGGAGGATTTATTGGCTATGCTCCATATGTCAACCGTATAGTTCAACAATGGAATCTCCAGGATAATGATGATGAT
CAGCTCTTTTACACTAAAGTTTACATTGATCCACTGAAAAGGGAAGCTATTAACATCACATTGGATCACAAATGCAAAATTTTCCAGACCTTAAATGGAGCTGTAGATGAAGTTGTTTTAAAATTTGA
AAATGGCAAAGCCAGAGCTAAGAATACATTTTATGAAACATTACCAGTGGCAATTAATGGAAATGGACCCACCAAGATTCTCCTGAATTATTTTGGAAACTATGTACCCAATTCATGGACACAGGATA
ATGGCTGCACTCTTTGTGAATTCGATACAGTCGACTTGTCTGCAGTAGATGTCCATCCAAACGTATCAATAGGTGTTTTTATTGAGCAACCAACCCCTTTTCTACCTCGGTTTCTGGACATATTGTTG
ACACTGGATTACCCAAAAGAAGCACTTAAACTTTTTATTCATAACAAAGAAGTTTATCATGAAAAGGACATCAAGGTATTTTTTGATAAAGCTAAGCATGAAATCAAAACTATAAAAATAGTAGGACC
AGAAGAAAATCTAAGTCAAGCGGAAGCCAGAAACATGGGAATGGACTTTTGCCGTCAGGATGAAAAGTGTGATTATTACTTTAGTGTGGATGCAGATGTTGTTTTGACAAATCCAAGGACTTTAAAAA
TTTTGATTGAACAAAACAGAAAGATCATTGCTCCTCTTGTAACTCGTCATGGAAAGCTGTGGTCCAATTTCTGGGGAGCATTGAGTCCTGATGGATACTATGCACGATCTGAAGATTATGTGGATATT
GTTCAAGGGAATAGAGTAGGAGTATGGAATGTCCCATATATGGCTAATGTGTACTTAATTAAAGGAAAGACACTCCGATCAGAGATGAATGAAAGGAACTATTTTGTTCGTGATAAACTGGATCCTGA
TATGGCTCTTTGCCGAAATGCTAGAGAAATGACTTTACAAAGGGAAAAAGACTCCCCTACTCCGGAAACATTCCAAATGCTCAGCCCCCCAAAGGGTGTATTTATGTACATTTCTAATAGACATGAAT
TTGGAAGGCTATTATCCACTGCTAATTACAATACTTCCCATTATAACAATGACCTCTGGCAGATTTTTGAAAATCCTGTGGACTGGAAGGAAAAGTATATAAACCGTGATTATTCAAAGATTTTCACT
GAAAATATAGTTGAACAGCCCTGTCCAGATGTCTTTTGGTTCCCCATATTTTCTGAAAAAGCCTGTGATGAATTGGTAGAAGAAATGGAACATTACGGCAAATGGTCTGGGGGAAAACATCATGATAG
CCGTATATCTGGTGGTTATGAAAATGTCCCAACTGATGATATCCACATGAAGCAAGTTGATCTGGAGAATGTATGGCTTCATTTTATCCGGGAGTTCATTGCACCAGTTACACTGAAGGTCTTTGCAG
GCTATTATACGAAGGGATTTGCACTACTGAATTTTGTAGTAAAATACTCCCCTGAACGACAGCGTTCTCTTCGTCCTCATCATGATGCTTCTACATTTACCATAAACATTGCACTTAATAACGTGGGA
GAAGACTTTCAGGGAGGTGGTTGCAAATTTCTAAGGTACAATTGCTCTATTGAGTCACCACGAAAAGGCTGGAGCTTCATGCATCCTGGGAGACTCACACATTTGCATGAAGGACTTCCTGTTAAAAA
TGGAACAAGATACATTGCAGTGTCATTTATAGATCCCTAAGTTATTTACTTTTCATTGAATTGAAATTTATTTTGGATGAATGACTGGCATGAACACGTCTTTGAAGTTGTGGCTGAGAAGATGAGAG
GAATATTTAAATAACATCAACAGAACAACTTCACTTTGGGCCAAACATTTGAAAAACTTTTTATAAAAAATTGTTTGATATTTCTTAATGTCTGCTCTGAGCCTTAAAACACAGATTGAAGAAGAAAA
GAAAGAAAAAACTTAAATATTTATTTCTATGCTTTGTTGCCTCTGAGAATAATGACAATTTATGAATTTGTGTTTCAAATTGATAAAATATTTAGGTACAAATAACAAGACTAATAATATTTTCTTAT
TTAAAAAAAGCATGGGAAGATTTTTATTTATCAAAATATAGAGGAAATGTAGACAAAATGGATATAAATGAAAATTACCATGTTGTAAAACCTTGAAAATCAGATTCTAACTGGATTTGTATGCAACT
AAGTATTTTTCTGAACACCTATGCAGGTCTTATTTACAGTAGTTACTAAGGGAACACACAAAGAATTACACAACGTTTTCCTCAAGAAAATGGTACAAAACACAACCGAGGAGCGTATACAGTTGAAA
ACATTTTTGTTTTGATTGGAAGGCAGATTATTTTATATTAGTATTAAAAATCAAACCCTATGTTTCTTTCAGATGAATCTTCCAAAGTGGATTATATTAAGCAGGTATTAGATTTAGGAAAACCTTTC
CATTTCTTAAAGTATTATCAAGTGTCAAGATCAGCAAGTGTCCTTAAGTCAAACAGGTTTTTTTTGTTGTTGTTTTTGCTTTGTTTCCTTTTTTAGAAAGTTCTAGAAAATAGGAAAACGAAAAATTT
CATTGAGATGAGTAGTGCATTTAATTATTTTTTAAAAAACTTTTTAAGTACTTGAATTTTATATCAGGAAAACAAAGTTGTTGAGCCTTGCTTCTTCCGTTTTGCCCTTTGTCTCGCTCCTTATTCTT
TTTTTGGGGGGAGGGTTATTTGCTTTTTTATCTTCCTGGCATAATTTCCATTTTATTCTTCTGAGTGTCTATGTTAACTTCCCTCTATCCCGCTTATAAAAAAATTCTCCAACAAAAATACTTGTTGA
CTTGATGTTTTATCACTTCTCTAAGTAAGGTTGAAATATCCTTATTGTAGCTACTGTTTTTAATGTAAAGGTTAAACTTGAAAAGAAATTCTTAATCACGGTGCCAAAATTCATTTTCTAACACCATG
TGTTAGAAAATTATAAAAAATAAAATAATTTTAGAAA

hide sequence

RefSeq Acc Id:

XM_017006625 ⟹ XP_016862114

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	146,069,440 - 146,124,231 (-)	NCBI

Sequence:

show sequence

AGATAAATTATTAGTCATAACTGTAGCAACAAAAGAAAGTGATGGATTCCATCGATTTATGCAG
TCAGCCAAATATTTCAATTATACTGTGAAGAAAGAAGGATCTGTCAGCCAAGTCTTTTCTACAAATAAGAGGAGAACAAGGAGATACCTAGATCTCTTAGTAGATCATTATAATGGCAACTTCAGACT
TTGTTTTGATGAAATGAAGAGAAAAGGTCCTTGGTCAAGGAGAAGAATGGAGAGGTGGTGATGGAATTAATAGTATTGGAGGGGGCCAGAAAGTGAGATTAATGAAAGAAGTCATGGAACACTATGCT
GATCAAGATGATCTGGTTGTCATGTTTACTGAATGCTTTGATGTCATATTTGCTGGTGGTCCAGAAGAAGTTCTAAAAAAATTCCAAAAGGCAAACCACAAAGTGGTCTTTGCAGCAGATGGAATTTT
GTGGCCAGATAAAAGACTAGCAGACAAGTATCCTGTTGTGCACATTGGGAAACGCTATCTGAATTCAGGAGGATTTATTGGCTATGCTCCATATGTCAACCGTATAGTTCAACAATGGAATCTCCAGG
ATAATGATGATGATCAGCTCTTTTACACTAAAGTTTACATTGATCCACTGAAAAGGGAAGCTATTAACATCACATTGGATCACAAATGCAAAATTTTCCAGACCTTAAATGGAGCTGTAGATGAAGTT
GTTTTAAAATTTGAAAATGGCAAAGCCAGAGCTAAGAATACATTTTATGAAACATTACCAGTGGCAATTAATGGAAATGGACCCACCAAGATTCTCCTGAATTATTTTGGAAACTATGTACCCAATTC
ATGGACACAGGATAATGGCTGCACTCTTTGTGAATTCGATACAGTCGACTTGTCTGCAGTAGATGTCCATCCAAACGTATCAATAGGTGTTTTTATTGAGCAACCAACCCCTTTTCTACCTCGGTTTC
TGGACATATTGTTGACACTGGATTACCCAAAAGAAGCACTTAAACTTTTTATTCATAACAAAGAAGTTTATCATGAAAAGGACATCAAGGTATTTTTTGATAAAGCTAAGCATGAAATCAAAACTATA
AAAATAGTAGGACCAGAAGAAAATCTAAGTCAAGCGGAAGCCAGAAACATGGGAATGGACTTTTGCCGTCAGGATGAAAAGTGTGATTATTACTTTAGTGTGGATGCAGATGTTGTTTTGACAAATCC
AAGGACTTTAAAAATTTTGATTGAACAAAACAGAAAGATCATTGCTCCTCTTGTAACTCGTCATGGAAAGCTGTGGTCCAATTTCTGGGGAGCATTGAGTCCTGATGGATACTATGCACGATCTGAAG
ATTATGTGGATATTGTTCAAGGGAATAGAGTAGGAGTATGGAATGTCCCATATATGGCTAATGTGTACTTAATTAAAGGAAAGACACTCCGATCAGAGATGAATGAAAGGAACTATTTTGTTCGTGAT
AAACTGGATCCTGATATGGCTCTTTGCCGAAATGCTAGAGAAATGACTTTACAAAGGGAAAAAGACTCCCCTACTCCGGAAACATTCCAAATGCTCAGCCCCCCAAAGGGTGTATTTATGTACATTTC
TAATAGACATGAATTTGGAAGGCTATTATCCACTGCTAATTACAATACTTCCCATTATAACAATGACCTCTGGCAGATTTTTGAAAATCCTGTGGACTGGAAGGAAAAGTATATAAACCGTGATTATT
CAAAGATTTTCACTGAAAATATAGTTGAACAGCCCTGTCCAGATGTCTTTTGGTTCCCCATATTTTCTGAAAAAGCCTGTGATGAATTGGTAGAAGAAATGGAACATTACGGCAAATGGTCTGGGGGA
AAACATCATGATAGCCGTATATCTGGTGGTTATGAAAATGTCCCAACTGATGATATCCACATGAAGCAAGTTGATCTGGAGAATGTATGGCTTCATTTTATCCGGGAGTTCATTGCACCAGTTACACT
GAAGGTCTTTGCAGGCTATTATACGAAGGGATTTGCACTACTGAATTTTGTAGTAAAATACTCCCCTGAACGACAGCGTTCTCTTCGTCCTCATCATGATGCTTCTACATTTACCATAAACATTGCAC
TTAATAACGTGGGAGAAGACTTTCAGGGAGGTGGTTGCAAATTTCTAAGGTACAATTGCTCTATTGAGTCACCACGAAAAGGCTGGAGCTTCATGCATCCTGGGAGACTCACACATTTGCATGAAGGA
CTTCCTGTTAAAAATGGAACAAGATACATTGCAGTGTCATTTATAGATCCCTAAGTTATTTACTTTTCATTGAATTGAAATTTATTTTGGATGAATGACTGGCATGAACACGTCTTTGAAGTTGTGGC
TGAGAAGATGAGAGGAATATTTAAATAACATCAACAGAACAACTTCACTTTGGGCCAAACATTTGAAAAACTTTTTATAAAAAATTGTTTGATATTTCTTAATGTCTGCTCTGAGCCTTAAAACACAG
ATTGAAGAAGAAAAGAAAGAAAAAACTTAAATATTTATTTCTATGCTTTGTTGCCTCTGAGAATAATGACAATTTATGAATTTGTGTTTCAAATTGATAAAATATTTAGGTACAAATAACAAGACTAA
TAATATTTTCTTATTTAAAAAAAGCATGGGAAGATTTTTATTTATCAAAATATAGAGGAAATGTAGACAAAATGGATATAAATGAAAATTACCATGTTGTAAAACCTTGAAAATCAGATTCTAACTGG
ATTTGTATGCAACTAAGTATTTTTCTGAACACCTATGCAGGTCTTATTTACAGTAGTTACTAAGGGAACACACAAAGAATTACACAACGTTTTCCTCAAGAAAATGGTACAAAACACAACCGAGGAGC
GTATACAGTTGAAAACATTTTTGTTTTGATTGGAAGGCAGATTATTTTATATTAGTATTAAAAATCAAACCCTATGTTTCTTTCAGATGAATCTTCCAAAGTGGATTATATTAAGCAGGTATTAGATT
TAGGAAAACCTTTCCATTTCTTAAAGTATTATCAAGTGTCAAGATCAGCAAGTGTCCTTAAGTCAAACAGGTTTTTTTTGTTGTTGTTTTTGCTTTGTTTCCTTTTTTAGAAAGTTCTAGAAAATAGG
AAAACGAAAAATTTCATTGAGATGAGTAGTGCATTTAATTATTTTTTAAAAAACTTTTTAAGTACTTGAATTTTATATCAGGAAAACAAAGTTGTTGAGCCTTGCTTCTTCCGTTTTGCCCTTTGTCT
CGCTCCTTATTCTTTTTTTGGGGGGAGGGTTATTTGCTTTTTTATCTTCCTGGCATAATTTCCATTTTATTCTTCTGAGTGTCTATGTTAACTTCCCTCTATCCCGCTTATAAAAAAATTCTCCAACA
AAAATACTTGTTGACTTGATGTTTTATCACTTCTCTAAGTAAGGTTGAAATATCCTTATTGTAGCTACTGTTTTTAATGTAAAGGTTAAACTTGAAAAGAAATTCTTAATCACGGTGCCAAAATTCAT
TTTCTAACACCATGTGTTAGAAAATTATAAAAAATAAAATAATTTTAGAAAGTT

hide sequence

RefSeq Acc Id:

XM_047448319 ⟹ XP_047304275

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	146,069,440 - 146,124,231 (-)	NCBI

RefSeq Acc Id:

XM_047448320 ⟹ XP_047304276

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	146,073,287 - 146,161,184 (-)	NCBI

RefSeq Acc Id:

XM_054346868 ⟹ XP_054202843

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	148,824,992 - 148,879,784 (-)	NCBI

RefSeq Acc Id:

XM_054346869 ⟹ XP_054202844

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	148,824,992 - 148,879,784 (-)	NCBI

RefSeq Acc Id:

XM_054346870 ⟹ XP_054202845

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	148,828,839 - 148,916,735 (-)	NCBI


Protein RefSeqs	NP_000926	(Get FASTA)	NCBI Sequence Viewer
	NP_891988	(Get FASTA)	NCBI Sequence Viewer
	XP_016862114	(Get FASTA)	NCBI Sequence Viewer
	XP_047304275	(Get FASTA)	NCBI Sequence Viewer
	XP_047304276	(Get FASTA)	NCBI Sequence Viewer
	XP_054202843	(Get FASTA)	NCBI Sequence Viewer
	XP_054202844	(Get FASTA)	NCBI Sequence Viewer
	XP_054202845	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB58363	(Get FASTA)	NCBI Sequence Viewer
	AAD40977	(Get FASTA)	NCBI Sequence Viewer
	AAH16834	(Get FASTA)	NCBI Sequence Viewer
	AAH37169	(Get FASTA)	NCBI Sequence Viewer
	AAK20119	(Get FASTA)	NCBI Sequence Viewer
	BAD93116	(Get FASTA)	NCBI Sequence Viewer
	BAG54235	(Get FASTA)	NCBI Sequence Viewer
	BAG58125	(Get FASTA)	NCBI Sequence Viewer
	EAW78939	(Get FASTA)	NCBI Sequence Viewer
	EAW78940	(Get FASTA)	NCBI Sequence Viewer
	EAW78941	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000282903
	ENSP00000282903.5
	ENSP00000353170
	ENSP00000353170.3
	ENSP00000419354.1
	ENSP00000515350.1
	ENSP00000515351
	ENSP00000515353.1
	ENSP00000515354.1
	ENSP00000515355.1
GenBank Protein	O00469	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_000926 ⟸ NM_000935
- Peptide Label:	isoform 2 precursor
- UniProtKB:	Q59ED2 (UniProtKB/Swiss-Prot), B3KWS3 (UniProtKB/Swiss-Prot), Q8N170 (UniProtKB/Swiss-Prot), O00469 (UniProtKB/Swiss-Prot), A0A9L9PX47 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGGCTVKPQLLLLALVLHPWNPCLGADSEKPSSIPTDKLLVITVATKESDGFHRFMQSAKYFNYTVKVLGQGEEWRGGDGINSIGGGQKVRLMKEVMEHYADQDDLVVMFTECFDVIFAGGPEEVLKK FQKANHKVVFAADGILWPDKRLADKYPVVHIGKRYLNSGGFIGYAPYVNRIVQQWNLQDNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGAVDEVVLKFENGKARAKNTFYETLPVAINGNG PTKILLNYFGNYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSIGVFIEQPTPFLPRFLDILLTLDYPKEALKLFIHNKEVYHEKDIKVFFDKAKHEIKTIKIVGPEENLSQAEARNMGMDFCRQDEK CDYYFSVDADVVLTNPRTLKILIEQNRKIIAPLVTRHGKLWSNFWGALSPDGYYARSEDYVDIVQGNRVGVWNVPYMANVYLIKGKTLRSEMNERNYFVRDKLDPDMALCRNAREMGVFMYISNRHEF GRLLSTANYNTSHYNNDLWQIFENPVDWKEKYINRDYSKIFTENIVEQPCPDVFWFPIFSEKACDELVEEMEHYGKWSGGKHHDSRISGGYENVPTDDIHMKQVDLENVWLHFIREFIAPVTLKVFAG YYTKGFALLNFVVKYSPERQRSLRPHHDASTFTINIALNNVGEDFQGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEGLPVKNGTRYIAVSFIDP hide sequence

RefSeq Acc Id:	NP_891988 ⟸ NM_182943
- Peptide Label:	isoform 1 precursor
- UniProtKB:	E7ETU9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGGCTVKPQLLLLALVLHPWNPCLGADSEKPSSIPTDKLLVITVATKESDGFHRFMQSAKYFNYTVKVLGQGEEWRGGDGINSIGGGQKVRLMKEVMEHYADQDDLVVMFTECFDVIFAGGPEEVLKK FQKANHKVVFAADGILWPDKRLADKYPVVHIGKRYLNSGGFIGYAPYVNRIVQQWNLQDNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGAVDEVVLKFENGKARAKNTFYETLPVAINGNG PTKILLNYFGNYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSIGVFIEQPTPFLPRFLDILLTLDYPKEALKLFIHNKEVYHEKDIKVFFDKAKHEIKTIKIVGPEENLSQAEARNMGMDFCRQDEK CDYYFSVDADVVLTNPRTLKILIEQNRKIIAPLVTRHGKLWSNFWGALSPDGYYARSEDYVDIVQGNRVGVWNVPYMANVYLIKGKTLRSEMNERNYFVRDKLDPDMALCRNAREMTLQREKDSPTPE TFQMLSPPKGVFMYISNRHEFGRLLSTANYNTSHYNNDLWQIFENPVDWKEKYINRDYSKIFTENIVEQPCPDVFWFPIFSEKACDELVEEMEHYGKWSGGKHHDSRISGGYENVPTDDIHMKQVDLE NVWLHFIREFIAPVTLKVFAGYYTKGFALLNFVVKYSPERQRSLRPHHDASTFTINIALNNVGEDFQGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEGLPVKNGTRYIAVSFIDP hide sequence

RefSeq Acc Id:	XP_016862114 ⟸ XM_017006625
- Peptide Label:	isoform X1
- UniProtKB:	E7ETU9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MKEVMEHYADQDDLVVMFTECFDVIFAGGPEEVLKKFQKANHKVVFAADGILWPDKRLADKYPVVHIGKRYLNSGGFIGYAPYVNRIVQQWNLQDNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQ TLNGAVDEVVLKFENGKARAKNTFYETLPVAINGNGPTKILLNYFGNYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSIGVFIEQPTPFLPRFLDILLTLDYPKEALKLFIHNKEVYHEKDIKVFFD KAKHEIKTIKIVGPEENLSQAEARNMGMDFCRQDEKCDYYFSVDADVVLTNPRTLKILIEQNRKIIAPLVTRHGKLWSNFWGALSPDGYYARSEDYVDIVQGNRVGVWNVPYMANVYLIKGKTLRSEM NERNYFVRDKLDPDMALCRNAREMTLQREKDSPTPETFQMLSPPKGVFMYISNRHEFGRLLSTANYNTSHYNNDLWQIFENPVDWKEKYINRDYSKIFTENIVEQPCPDVFWFPIFSEKACDELVEEM EHYGKWSGGKHHDSRISGGYENVPTDDIHMKQVDLENVWLHFIREFIAPVTLKVFAGYYTKGFALLNFVVKYSPERQRSLRPHHDASTFTINIALNNVGEDFQGGGCKFLRYNCSIESPRKGWSFMHP GRLTHLHEGLPVKNGTRYIAVSFIDP hide sequence

Ensembl Acc Id:

ENSP00000353170 ⟸ ENST00000360060

Ensembl Acc Id:

ENSP00000282903 ⟸ ENST00000282903

Protein Domains

Fe2OG dioxygenase

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O00469-F1-model_v2	AlphaFold	O00469	1-737	view protein structure

RGD ID:

6865910

Promoter ID:

EPDNEW_H6119

Type:

initiation region

Name:

PLOD2_2

Description:

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H6120 EPDNEW_H6121 EPDNEW_H6122

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	146,161,000 - 146,161,060	EPDNEW

RGD ID:

6865912

Promoter ID:

EPDNEW_H6120

Type:

initiation region

Name:

PLOD2_1

Description:

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H6119 EPDNEW_H6121 EPDNEW_H6122

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	146,161,184 - 146,161,244	EPDNEW

RGD ID:

6865914

Promoter ID:

EPDNEW_H6121

Type:

initiation region

Name:

PLOD2_3

Description:

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H6119 EPDNEW_H6120 EPDNEW_H6122

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	146,163,723 - 146,163,783	EPDNEW

RGD ID:

6801426

Promoter ID:

HG_KWN:46404

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, Lymphoblastoid

Transcripts:

NM_000935, NM_182943

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	147,361,421 - 147,361,921 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	PLOD2	COSMIC
Ensembl Genes	ENSG00000152952	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000282903	ENTREZGENE
	ENST00000282903.10	UniProtKB/Swiss-Prot
	ENST00000360060	ENTREZGENE
	ENST00000360060.7	UniProtKB/Swiss-Prot
	ENST00000461497.5	UniProtKB/Swiss-Prot
	ENST00000703518.1	UniProtKB/Swiss-Prot
	ENST00000703519	ENTREZGENE
	ENST00000703520	ENTREZGENE
	ENST00000703522.1	UniProtKB/Swiss-Prot
	ENST00000703523.1	UniProtKB/Swiss-Prot
	ENST00000703527.1	UniProtKB/Swiss-Prot
Gene3D-CATH	q2cbj1_9rhob like domain	UniProtKB/Swiss-Prot
	Spore Coat Polysaccharide Biosynthesis Protein SpsA, Chain A	UniProtKB/Swiss-Prot
GTEx	ENSG00000152952	GTEx
HGNC ID	HGNC:9082	ENTREZGENE
Human Proteome Map	PLOD2	Human Proteome Map
InterPro	Collagen_mod_GT25	UniProtKB/Swiss-Prot
	IPNS-like_FE2OG_OXY	UniProtKB/Swiss-Prot
	Nucleotide-diphossugar_trans	UniProtKB/Swiss-Prot
	Oxoglu/Fe-dep_dioxygenase	UniProtKB/Swiss-Prot
	Pro_4_hyd_alph	UniProtKB/Swiss-Prot
	Procol_lys_dOase	UniProtKB/Swiss-Prot
KEGG Report	hsa:5352	UniProtKB/Swiss-Prot
NCBI Gene	5352	ENTREZGENE
OMIM	601865	OMIM
PANTHER	PROCOLLAGEN-LYSINE,2-OXOGLUTARATE 5-DIOXYGENASE 2	UniProtKB/Swiss-Prot
	PROCOLLAGEN-LYSINE,2-OXOGLUTARATE 5-DIOXYGENASE/GLYCOSYLTRANSFERASE 25 FAMILY MEMBER	UniProtKB/Swiss-Prot
Pfam	2OG-FeII_Oxy	UniProtKB/Swiss-Prot
PharmGKB	PA33412	PharmGKB
PROSITE	FE2OG_OXY	UniProtKB/Swiss-Prot
	LYS_HYDROXYLASE	UniProtKB/Swiss-Prot
SMART	P4Hc	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF53448	UniProtKB/Swiss-Prot
UniProt	A0A994J3M7_HUMAN	UniProtKB/TrEMBL
	A0A994J6E6	ENTREZGENE, UniProtKB/TrEMBL
	A0A994J6S5	ENTREZGENE, UniProtKB/TrEMBL
	A0A9L9PX47	ENTREZGENE, UniProtKB/TrEMBL
	A0A9L9PXC2_HUMAN	UniProtKB/TrEMBL
	B3KWS3	ENTREZGENE
	C9JXZ0_HUMAN	UniProtKB/TrEMBL
	E7ETU9	ENTREZGENE, UniProtKB/TrEMBL
	F8WEW3_HUMAN	UniProtKB/TrEMBL
	O00469	ENTREZGENE, UniProtKB/Swiss-Prot
	Q59ED2	ENTREZGENE
	Q8N170	ENTREZGENE
	Q96AR9_HUMAN	UniProtKB/TrEMBL
	Q96QU5_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	B3KWS3	UniProtKB/Swiss-Prot
	Q59ED2	UniProtKB/Swiss-Prot
	Q8N170	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-04-12	PLOD2	procollagen-lysine,2-oxoglutarate 5-dioxygenase 2	PLOD2	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	Symbol and/or name change	5135510	APPROVED

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