PLOD3 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 3)

Gene: PLOD3 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 3) Homo sapiens

Analyze

Symbol:

PLOD3

Name:

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

RGD ID:

1346467

HGNC Page

HGNC:9083

Description:

Enables hexosyltransferase activity; iron ion binding activity; and procollagen-lysine 5-dioxygenase activity. Involved in protein O-linked glycosylation. Located in Golgi apparatus and endoplasmic reticulum. Biomarker of hepatocellular carcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

LH3; lysine hydroxylase 3; lysyl hydroxlase 3; lysyl hydroxylase 3; multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3; procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3

RGD Orthologs

Alliance Genes

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	7	101,205,984 - 101,217,581 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	101,205,977 - 101,218,420 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	100,849,265 - 100,860,862 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	100,635,978 - 100,647,731 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	100,442,700 - 100,454,303	NCBI
Celera	7	95,858,417 - 95,870,169 (-)	NCBI		Celera
Cytogenetic Map	7	q22.1	NCBI
HuRef	7	95,442,117 - 95,454,228 (-)	NCBI		HuRef
CHM1_1	7	100,779,662 - 100,791,414 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	102,529,447 - 102,541,882 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	100,207,645 - 100,219,398 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Bone Fragility with Contractures, Arterial Rupture, and Deafness (EXP,IAGP)

Cerebral Hemorrhage (IAGP)

genetic disease (IAGP)

hepatocellular carcinoma (IEP,ISO)

hypothyroidism (ISO)

Plasminogen Activator Inhibitor-1 Deficiency (IAGP)

pleomorphic xanthoastrocytoma (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

(S)-nicotine (ISO)

1,10-phenanthroline (EXP)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

1,4-dithiothreitol (EXP)

17alpha-ethynylestradiol (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4,6-tribromophenol (EXP)

2,6-dinitrotoluene (ISO)

3,3',5,5'-tetrabromobisphenol A (EXP)

3,4-methylenedioxymethamphetamine (ISO)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (EXP,ISO)

4-hydroxyphenyl retinamide (ISO)

aconitine (ISO)

acrylamide (EXP)

allethrin (ISO)

ammonium chloride (ISO)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (ISO)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

cadmium dichloride (EXP,ISO)

carbon nanotube (ISO)

chlorogenic acid (EXP)

chlorpyrifos (ISO)

choline (ISO)

clobetasol (ISO)

clofibrate (ISO)

Cuprizon (ISO)

cyclophosphamide (EXP)

cyclosporin A (EXP)

cyhalothrin (ISO)

cypermethrin (ISO)

decabromodiphenyl ether (EXP)

dicrotophos (EXP)

doxorubicin (EXP)

ethanol (ISO)

fenthion (ISO)

fenvalerate (ISO)

folic acid (ISO)

fulvestrant (EXP)

genistein (EXP)

ivermectin (EXP)

kainic acid (ISO)

L-1,4-dithiothreitol (EXP)

L-methionine (ISO)

miconazole (ISO)

N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal (EXP)

N-nitrosodiethylamine (ISO)

nicotine (ISO)

Osajin (EXP)

paracetamol (EXP,ISO)

piperonyl butoxide (ISO)

Pomiferin (EXP)

potassium chromate (EXP)

puerarin (EXP)

pyrethrins (ISO)

quercetin (ISO)

resveratrol (EXP)

Rosavin (EXP)

rotenone (ISO)

simvastatin (ISO)

Soman (ISO)

thapsigargin (EXP)

trichostatin A (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

basement membrane assembly (IEA,ISO)

cellular response to hormone stimulus (ISO)

collagen fibril organization (IEA,ISO,TAS)

collagen metabolic process (IEA,ISO)

endothelial cell morphogenesis (IEA,ISO)

epidermis morphogenesis (IEA,ISO)

hydroxylysine biosynthetic process (IEA)

in utero embryonic development (IEA,ISO)

lung morphogenesis (IEA,ISO)

neural tube development (IEA,ISO)

protein localization (IEA,ISO)

protein O-linked glycosylation (IMP)

vasodilation (IEA,ISO)

Cellular Component

collagen trimer (IEA)

collagen-containing extracellular matrix (IEA)

endoplasmic reticulum (IBA,IDA,IEA,TAS)

endoplasmic reticulum lumen (IEA)

endoplasmic reticulum membrane (IEA,TAS)

extracellular exosome (HDA)

extracellular region (IEA)

extracellular space (IEA,ISS)

Golgi apparatus (IDA)

membrane (IEA)

rough endoplasmic reticulum (IEA)

trans-Golgi network (IEA)

Molecular Function

dioxygenase activity (IEA)

glycosyltransferase activity (IEA)

iron ion binding (EXP,IEA)

L-ascorbic acid binding (IEA)

metal ion binding (EXP,IEA)

procollagen galactosyltransferase activity (IEA,IMP,TAS)

procollagen glucosyltransferase activity (IBA,IEA,IMP)

procollagen-lysine 5-dioxygenase activity (IBA,IDA,IEA,IMP)

protein binding (IPI)

small molecule binding (EXP)

Molecular Pathway Annotations Click to see Annotation Detail View

lysine degradation pathway (IEA)

O-linked glycan biosynthetic pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal prothrombin time (IAGP)

Abnormality of the dentition (IAGP)

Anteverted nares (IAGP)

Arterial rupture (IAGP)

Autosomal recessive inheritance (IAGP)

Bilateral talipes equinovarus (IAGP)

Bruising susceptibility (IAGP)

Cataract (IAGP)

Coarse hair (IAGP)

Contracture of the proximal interphalangeal joint of the 2nd finger (IAGP)

Contracture of the proximal interphalangeal joint of the 3rd finger (IAGP)

Decreased palmar creases (IAGP)

Diaphragmatic eventration (IAGP)

Dilatation of the cerebral artery (IAGP)

Downturned corners of mouth (IAGP)

Elbow flexion contracture (IAGP)

Fetal onset (IAGP)

Flat face (IAGP)

Global developmental delay (IAGP)

Hypoplasia of the capital femoral epiphysis (IAGP)

Intrauterine growth retardation (IAGP)

J-shaped sella turcica (IAGP)

Low-set ears (IAGP)

Malar flattening (IAGP)

Myopia (IAGP)

Nail dysplasia (IAGP)

Neurodevelopmental delay (IAGP)

Osteopenia (IAGP)

Overlapping fingers (IAGP)

Pathologic fracture (IAGP)

Platyspondyly (IAGP)

Pleomorphic xanthoastrocytoma (IAGP)

Pointed chin (IAGP)

Porencephalic cyst (IAGP)

Postnatal growth retardation (IAGP)

Prolonged partial thromboplastin time (IAGP)

Scoliosis (IAGP)

Sensorineural hearing impairment (IAGP)

Shallow orbits (IAGP)

Short nose (IAGP)

Thenar muscle atrophy (IAGP)

Thrombocytopenia (IAGP)

Ventriculomegaly (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
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.
8.	Barrier to autointegration factor 1, procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3, and splicing factor 3b subunit 4 as early-stage cancer decision markers and drivers of hepatocellular carcinoma.	Shen Q, etal., Hepatology. 2018 Apr;67(4):1360-1377. doi: 10.1002/hep.29606. Epub 2018 Feb 20.

Additional References at PubMed

PMID:9582318	PMID:9724729	PMID:10686427	PMID:10934207	PMID:11334715	PMID:11956192	PMID:12475640	PMID:12477932	PMID:12853948	PMID:15489334	PMID:16009940	PMID:16189514
PMID:16303743	PMID:16447251	PMID:17314511	PMID:17643375	PMID:18187620	PMID:18298658	PMID:18834968	PMID:19056867	PMID:19156129	PMID:19199708	PMID:20562859	PMID:20955792
PMID:21145461	PMID:21220425	PMID:21465473	PMID:21516116	PMID:21873635	PMID:21942715	PMID:22268729	PMID:22939629	PMID:23686814	PMID:23979707	PMID:25416956	PMID:25798074
PMID:25825495	PMID:25910212	PMID:25921289	PMID:26028330	PMID:26344197	PMID:26380979	PMID:26496610	PMID:26598620	PMID:26638075	PMID:26972000	PMID:27233793	PMID:27342126
PMID:27371349	PMID:27435297	PMID:27609421	PMID:27684187	PMID:27880917	PMID:28515276	PMID:28533407	PMID:28675297	PMID:29117863	PMID:29564676	PMID:29892012	PMID:30021884
PMID:30089812	PMID:30442941	PMID:30631154	PMID:30770789	PMID:30775879	PMID:30833792	PMID:31067453	PMID:31129566	PMID:31317175	PMID:31324722	PMID:31353912	PMID:31446433
PMID:31515488	PMID:31527615	PMID:31536960	PMID:31586073	PMID:32296183	PMID:32409323	PMID:32585183	PMID:32780723	PMID:32807901	PMID:33060197	PMID:33483598	PMID:33545068
PMID:33783989	PMID:33909026	PMID:33957083	PMID:33961781	PMID:33984770	PMID:34079125	PMID:34239923	PMID:34244482	PMID:34244565	PMID:34304093	PMID:34576068	PMID:34591612
PMID:34646265	PMID:34709727	PMID:35039611	PMID:35271311	PMID:35384245	PMID:35509820	PMID:35563538	PMID:35696571	PMID:35748872	PMID:35831314	PMID:35944360	PMID:36215168
PMID:36403858	PMID:36517590	PMID:36526897	PMID:36538041	PMID:36736316	PMID:36774506	PMID:37827155	PMID:38184566

Genomics

Comparative Map Data

PLOD3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	101,205,984 - 101,217,581 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	101,205,977 - 101,218,420 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	100,849,265 - 100,860,862 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	100,635,978 - 100,647,731 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	100,442,700 - 100,454,303	NCBI
Celera	7	95,858,417 - 95,870,169 (-)	NCBI		Celera
Cytogenetic Map	7	q22.1	NCBI
HuRef	7	95,442,117 - 95,454,228 (-)	NCBI		HuRef
CHM1_1	7	100,779,662 - 100,791,414 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	102,529,447 - 102,541,882 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	100,207,645 - 100,219,398 (-)	NCBI

Plod3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	137,015,873 - 137,025,500 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	137,015,873 - 137,025,502 (+)	Ensembl		GRCm39 Ensembl
GRCm38	5	136,987,019 - 136,996,646 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	136,987,019 - 136,996,648 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	137,462,889 - 137,472,516 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	137,271,649 - 137,281,166 (+)	NCBI		MGSCv36	mm8
Celera	5	134,003,006 - 134,012,645 (+)	NCBI		Celera
Cytogenetic Map	5	G2	NCBI
cM Map	5	76.09	NCBI

Plod3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	12	25,313,070 - 25,323,631 (-)	NCBI		GRCr8
mRatBN7.2	12	19,676,384 - 19,686,945 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	12	19,676,386 - 19,686,960 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	12	20,814,848 - 20,825,421 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	12	21,427,553 - 21,438,126 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	12	20,492,753 - 20,503,314 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	12	22,716,421 - 22,726,982 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	12	22,716,423 - 22,726,982 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	12	24,728,205 - 24,738,766 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	12	20,856,527 - 20,867,088 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	12	20,846,399 - 20,856,690 (+)	NCBI
Celera	12	21,452,299 - 21,462,860 (-)	NCBI		Celera
Cytogenetic Map	12	q12	NCBI

Plod3
(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_004955456	16,082,437 - 16,093,389 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955456	16,082,424 - 16,090,773 (+)	NCBI	ChiLan1.0	ChiLan1.0

PLOD3
(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	6	119,219,216 - 119,230,857 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	7	167,483,838 - 167,495,393 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	7	93,347,335 - 93,358,921 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	7	106,587,858 - 106,599,605 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	7	106,587,858 - 106,599,605 (-)	Ensembl	panpan1.1		panPan2

PLOD3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	6	8,664,135 - 8,671,637 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	8,664,358 - 8,671,620 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	10,361,502 - 10,368,957 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	8,483,656 - 8,491,120 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	8,483,333 - 8,491,117 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	8,443,884 - 8,451,311 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	8,414,481 - 8,421,939 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	8,579,093 - 8,586,540 (+)	NCBI		UU_Cfam_GSD_1.0

Plod3
(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_024409344	132,939,235 - 132,946,261 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936543	1,090,253 - 1,097,301 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936543	1,090,268 - 1,097,170 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PLOD3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	8,911,791 - 8,919,516 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	8,911,787 - 8,919,525 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

PLOD3
(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	28	11,962,394 - 11,974,206 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	28	11,962,286 - 11,975,228 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666070	4,378,287 - 4,390,520 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Plod3
(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_004624740	16,074,141 - 16,082,223 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624740	16,074,027 - 16,082,139 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PLOD3
532 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001084.5(PLOD3):c.2071del (p.Cys691fs)	deletion	Bone fragility with contractures, arterial rupture, and deafness [RCV000007023]	Chr7:101206427 [GRCh38] Chr7:100849708 [GRCh37] Chr7:7q22.1	pathogenic
NM_001084.5(PLOD3):c.668A>G (p.Asn223Ser)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV000007022]\|not provided [RCV002512862]	Chr7:101215100 [GRCh38] Chr7:100858381 [GRCh37] Chr7:7q22.1	pathogenic\|uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	copy number gain	See cases [RCV000053573]	Chr7:98288474..101259804 [GRCh38] Chr7:97917786..100903085 [GRCh37] Chr7:97755722..100689805 [NCBI36] Chr7:7q21.3-22.1	pathogenic
GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	copy number loss	See cases [RCV000054155]	Chr7:100419914..102482826 [GRCh38] Chr7:100017537..102123273 [GRCh37] Chr7:99855473..101910278 [NCBI36] Chr7:7q22.1	pathogenic
NM_001084.4(PLOD3):c.1506C>T (p.Ile502=)	single nucleotide variant	Malignant melanoma [RCV000067550]	Chr7:101210439 [GRCh38] Chr7:100853720 [GRCh37] Chr7:100640440 [NCBI36] Chr7:7q22.1	not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	copy number loss	See cases [RCV000135782]	Chr7:99195836..102258175 [GRCh38] Chr7:98793459..101718950 [GRCh37] Chr7:98631395..101688175 [NCBI36] Chr7:7q22.1	pathogenic\|uncertain significance
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	copy number gain	See cases [RCV000136717]	Chr7:97419852..158923762 [GRCh38] Chr7:97049164..158716453 [GRCh37] Chr7:96887100..158409214 [NCBI36] Chr7:7q21.3-36.3	pathogenic
GRCh38/hg38 7q22.1(chr7:101130561-101255628)x3	copy number gain	See cases [RCV000136835]	Chr7:101130561..101255628 [GRCh38] Chr7:100773842..100898909 [GRCh37] Chr7:100560562..100685629 [NCBI36] Chr7:7q22.1	benign
GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	copy number gain	See cases [RCV000138109]	Chr7:99932610..102473188 [GRCh38] Chr7:99530233..102113635 [GRCh37] Chr7:99368169..101900640 [NCBI36] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.615+227dup	duplication	not provided [RCV001549525]	Chr7:101215672..101215673 [GRCh38] Chr7:100858953..100858954 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1209G>A (p.Leu403=)	single nucleotide variant	not provided [RCV000756557]	Chr7:101211869 [GRCh38] Chr7:100855150 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1993C>T (p.Arg665Trp)	single nucleotide variant	not provided [RCV000487905]	Chr7:101206847 [GRCh38] Chr7:100850128 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1890T>G (p.Tyr630Ter)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV000490386]	Chr7:101207623 [GRCh38] Chr7:100850904 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_001084.5(PLOD3):c.1402C>G (p.Arg468Gly)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV000999838]\|not provided [RCV000757674]	Chr7:101210630 [GRCh38] Chr7:100853911 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.2200T>A (p.Ser734Thr)	single nucleotide variant	not provided [RCV000757675]	Chr7:101206298 [GRCh38] Chr7:100849579 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1355G>A (p.Arg452Gln)	single nucleotide variant	not provided [RCV000757676]	Chr7:101211594 [GRCh38] Chr7:100854875 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1466C>T (p.Pro489Leu)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV003103838]\|Hemorrhage, intracerebral, susceptibility to [RCV002273826]\|PLOD3-related condition [RCV003928261]\|not provided [RCV000757677]	Chr7:101210566 [GRCh38] Chr7:100853847 [GRCh37] Chr7:7q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
TMEM106B-BRAF fusion	deletion	Pleomorphic xanthoastrocytoma [RCV000454357]	Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1	copy number loss	See cases [RCV000446044]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3	copy number gain	See cases [RCV000447709]	Chr7:98969247..159119707 [GRCh37] Chr7:7q22.1-36.3	pathogenic
NM_001084.5(PLOD3):c.887C>A (p.Pro296His)	single nucleotide variant	not provided [RCV000478234]	Chr7:101212648 [GRCh38] Chr7:100855929 [GRCh37] Chr7:7q22.1	uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	copy number gain	See cases [RCV000510686]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV000508323]\|not provided [RCV000514263]	Chr7:101211934 [GRCh38] Chr7:100855215 [GRCh37] Chr7:7q22.1	benign\|likely benign
NM_001084.5(PLOD3):c.1006-5C>T	single nucleotide variant	not specified [RCV000508373]	Chr7:101212379 [GRCh38] Chr7:100855660 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1977C>T (p.Asp659=)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV000505851]\|not provided [RCV001672821]	Chr7:101206863 [GRCh38] Chr7:100850144 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.110-153T>C	single nucleotide variant	not specified [RCV000506505]	Chr7:101216939 [GRCh38] Chr7:100860220 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1179C>T (p.Ala393=)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV000999780]\|not provided [RCV000506522]	Chr7:101211899 [GRCh38] Chr7:100855180 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.503-9C>T	single nucleotide variant	not provided [RCV000894893]\|not specified [RCV000506709]	Chr7:101216029 [GRCh38] Chr7:100859310 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2171C>T (p.Thr724Met)	single nucleotide variant	not specified [RCV000506767]	Chr7:101206327 [GRCh38] Chr7:100849608 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.129T>C (p.Thr43=)	single nucleotide variant	not provided [RCV002524925]\|not specified [RCV000506974]	Chr7:101216767 [GRCh38] Chr7:100860048 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.570C>T (p.Asp190=)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV000507249]\|not provided [RCV001712572]	Chr7:101215953 [GRCh38] Chr7:100859234 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1528C>T (p.His510Tyr)	single nucleotide variant	not provided [RCV000507284]	Chr7:101210417 [GRCh38] Chr7:100853698 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1935+105T>G	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV000507552]	Chr7:101207473 [GRCh38] Chr7:100850754 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1233-4G>A	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV000508024]\|not provided [RCV001712474]	Chr7:101211720 [GRCh38] Chr7:100855001 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.123G>A (p.Val41=)	single nucleotide variant	not provided [RCV000508101]	Chr7:101216773 [GRCh38] Chr7:100860054 [GRCh37] Chr7:7q22.1	benign
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	copy number gain	See cases [RCV000511549]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_001084.5(PLOD3):c.1403G>A (p.Arg468Gln)	single nucleotide variant	Inborn genetic diseases [RCV003275695]	Chr7:101210629 [GRCh38] Chr7:100853910 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1636C>A (p.His546Asn)	single nucleotide variant	not provided [RCV000513344]	Chr7:101210140 [GRCh38] Chr7:100853421 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.502+4A>G	single nucleotide variant	not provided [RCV000513555]	Chr7:101216159 [GRCh38] Chr7:100859440 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.887C>G (p.Pro296Arg)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV001001983]\|not provided [RCV000659081]	Chr7:101212648 [GRCh38] Chr7:100855929 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.2137G>A (p.Gly713Ser)	single nucleotide variant	Inborn genetic diseases [RCV002534309]\|not provided [RCV000659080]	Chr7:101206361 [GRCh38] Chr7:100849642 [GRCh37] Chr7:7q22.1	uncertain significance
Single allele	duplication	Congenital plasminogen activator inhibitor type 1 deficiency [RCV000677965]	Chr7:100730280..100853730 [GRCh37] Chr7:7q22.1	uncertain significance
GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	copy number loss	not provided [RCV000682904]	Chr7:98847725..102472176 [GRCh37] Chr7:7q22.1	pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	copy number gain	not provided [RCV000682911]	Chr7:98693388..159119707 [GRCh37] Chr7:7q22.1-36.3	pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	inversion	Childhood apraxia of speech [RCV000234948]	Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3	copy number gain	not provided [RCV000746280]	Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3	copy number gain	not provided [RCV000746278]	Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_001084.5(PLOD3):c.1812C>T (p.Tyr604=)	single nucleotide variant	not provided [RCV000896585]	Chr7:101207701 [GRCh38] Chr7:100850982 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.809C>T (p.Pro270Leu)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV000761553]	Chr7:101212912 [GRCh38] Chr7:100856193 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_001084.5(PLOD3):c.1939C>T (p.Arg647Trp)	single nucleotide variant	not provided [RCV000762469]	Chr7:101206901 [GRCh38] Chr7:100850182 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1678G>C (p.Glu560Gln)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV001002170]\|PLOD3-related condition [RCV003947965]\|not provided [RCV000762470]	Chr7:101210098 [GRCh38] Chr7:100853379 [GRCh37] Chr7:7q22.1	benign\|likely benign
NM_001084.5(PLOD3):c.1675G>A (p.Val559Met)	single nucleotide variant	PLOD3-related condition [RCV003413554]\|not provided [RCV000762471]	Chr7:101210101 [GRCh38] Chr7:100853382 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1935+51G>A	single nucleotide variant	not provided [RCV001678854]	Chr7:101207527 [GRCh38] Chr7:100850808 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.2172G>C (p.Thr724=)	single nucleotide variant	not provided [RCV000947053]	Chr7:101206326 [GRCh38] Chr7:100849607 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1797G>A (p.Arg599=)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV001000253]\|not provided [RCV000950416]	Chr7:101207716 [GRCh38] Chr7:100850997 [GRCh37] Chr7:7q22.1	benign\|likely benign
NM_001084.5(PLOD3):c.201+10G>A	single nucleotide variant	not provided [RCV000900622]	Chr7:101216685 [GRCh38] Chr7:100859966 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.109+10C>T	single nucleotide variant	not provided [RCV000981188]	Chr7:101217156 [GRCh38] Chr7:100860437 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2124A>G (p.Ala708=)	single nucleotide variant	not provided [RCV000924195]	Chr7:101206374 [GRCh38] Chr7:100849655 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.147C>T (p.Thr49=)	single nucleotide variant	not provided [RCV000883936]	Chr7:101216749 [GRCh38] Chr7:100860030 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1006-4C>T	single nucleotide variant	not provided [RCV000976147]	Chr7:101212378 [GRCh38] Chr7:100855659 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1692G>A (p.Pro564=)	single nucleotide variant	not provided [RCV000942052]	Chr7:101208949 [GRCh38] Chr7:100852230 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.988C>G (p.Leu330Val)	single nucleotide variant	not provided [RCV000906535]	Chr7:101212547 [GRCh38] Chr7:100855828 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1164C>T (p.Tyr388=)	single nucleotide variant	not provided [RCV000898826]	Chr7:101211914 [GRCh38] Chr7:100855195 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1756C>G (p.His586Asp)	single nucleotide variant	not provided [RCV000922473]	Chr7:101208885 [GRCh38] Chr7:100852166 [GRCh37] Chr7:7q22.1	likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	copy number gain	not provided [RCV000848126]	Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_001084.5(PLOD3):c.2004C>T (p.His668=)	single nucleotide variant	PLOD3-related condition [RCV003968391]\|not provided [RCV000910438]	Chr7:101206836 [GRCh38] Chr7:100850117 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1887G>A (p.Thr629=)	single nucleotide variant	not provided [RCV000963888]	Chr7:101207626 [GRCh38] Chr7:100850907 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.294G>A (p.Glu98=)	single nucleotide variant	not provided [RCV000977879]	Chr7:101216454 [GRCh38] Chr7:100859735 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.535A>G (p.Ile179Val)	single nucleotide variant	PLOD3-related condition [RCV003905953]\|not provided [RCV000968615]	Chr7:101215988 [GRCh38] Chr7:100859269 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.804C>T (p.Tyr268=)	single nucleotide variant	not provided [RCV000964291]	Chr7:101212917 [GRCh38] Chr7:100856198 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.453G>A (p.Ala151=)	single nucleotide variant	not provided [RCV000901107]	Chr7:101216212 [GRCh38] Chr7:100859493 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1500+8C>T	single nucleotide variant	not provided [RCV000963351]	Chr7:101210524 [GRCh38] Chr7:100853805 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.975C>T (p.Pro325=)	single nucleotide variant	not provided [RCV000893676]	Chr7:101212560 [GRCh38] Chr7:100855841 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.961C>T (p.Leu321=)	single nucleotide variant	not provided [RCV000897392]	Chr7:101212574 [GRCh38] Chr7:100855855 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1323C>T (p.Ser441=)	single nucleotide variant	not provided [RCV000920415]	Chr7:101211626 [GRCh38] Chr7:100854907 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.335A>G (p.Asp112Gly)	single nucleotide variant	not provided [RCV000998872]	Chr7:101216413 [GRCh38] Chr7:100859694 [GRCh37] Chr7:7q22.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_001084.5(PLOD3):c.1233-34C>G	single nucleotide variant	not provided [RCV001619643]	Chr7:101211750 [GRCh38] Chr7:100855031 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.2061+50G>T	single nucleotide variant	not provided [RCV001651733]	Chr7:101206729 [GRCh38] Chr7:100850010 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.680-244C>T	single nucleotide variant	not provided [RCV001569536]	Chr7:101213448 [GRCh38] Chr7:100856729 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1684-267dup	duplication	not provided [RCV001592108]	Chr7:101209210..101209211 [GRCh38] Chr7:100852491..100852492 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2061+12T>C	single nucleotide variant	not provided [RCV001710052]	Chr7:101206767 [GRCh38] Chr7:100850048 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1683+201A>G	single nucleotide variant	not provided [RCV001650327]	Chr7:101209892 [GRCh38] Chr7:100853173 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.670G>C (p.Gly224Arg)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV002225136]\|not provided [RCV001570847]	Chr7:101215098 [GRCh38] Chr7:100858379 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.-81A>G	single nucleotide variant	not provided [RCV001678942]	Chr7:101217355 [GRCh38] Chr7:100860636 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1315G>A (p.Ala439Thr)	single nucleotide variant	not provided [RCV000885205]	Chr7:101211634 [GRCh38] Chr7:100854915 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1176C>T (p.Asp392=)	single nucleotide variant	PLOD3-related condition [RCV003903097]\|not provided [RCV000933537]	Chr7:101211902 [GRCh38] Chr7:100855183 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.54G>T (p.Leu18=)	single nucleotide variant	not provided [RCV000932660]	Chr7:101217221 [GRCh38] Chr7:100860502 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.477G>A (p.Thr159=)	single nucleotide variant	PLOD3-related condition [RCV003977960]\|not provided [RCV000909311]	Chr7:101216188 [GRCh38] Chr7:100859469 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1904C>T (p.Thr635Ile)	single nucleotide variant	PLOD3-related condition [RCV003958253]\|not provided [RCV000907413]	Chr7:101207609 [GRCh38] Chr7:100850890 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1695C>T (p.Asp565=)	single nucleotide variant	not provided [RCV000899315]	Chr7:101208946 [GRCh38] Chr7:100852227 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.805G>A (p.Val269Ile)	single nucleotide variant	not provided [RCV000933389]	Chr7:101212916 [GRCh38] Chr7:100856197 [GRCh37] Chr7:7q22.1	likely benign\|conflicting interpretations of pathogenicity
NM_001084.5(PLOD3):c.735C>T (p.Tyr245=)	single nucleotide variant	not provided [RCV000888516]	Chr7:101213149 [GRCh38] Chr7:100856430 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.615+9G>A	single nucleotide variant	not provided [RCV000938990]	Chr7:101215899 [GRCh38] Chr7:100859180 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.740C>T (p.Thr247Met)	single nucleotide variant	not provided [RCV000956514]	Chr7:101213144 [GRCh38] Chr7:100856425 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1986G>A (p.Pro662=)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV001000300]\|not provided [RCV000890104]	Chr7:101206854 [GRCh38] Chr7:100850135 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1233-5C>T	single nucleotide variant	not provided [RCV000934306]	Chr7:101211721 [GRCh38] Chr7:100855002 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1290C>T (p.Gly430=)	single nucleotide variant	not provided [RCV000890710]	Chr7:101211659 [GRCh38] Chr7:100854940 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.634C>T (p.Leu212=)	single nucleotide variant	not provided [RCV000890796]	Chr7:101215134 [GRCh38] Chr7:100858415 [GRCh37] Chr7:7q22.1	likely benign
NC_000007.14:g.101217932T>C	single nucleotide variant	not provided [RCV001676933]	Chr7:101217932 [GRCh38] Chr7:100861213 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1684-254del	deletion	not provided [RCV001557383]	Chr7:101209211 [GRCh38] Chr7:100852492 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1788+231C>T	single nucleotide variant	not provided [RCV001559764]	Chr7:101208622 [GRCh38] Chr7:100851903 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.109+46G>A	single nucleotide variant	not provided [RCV001687286]	Chr7:101217120 [GRCh38] Chr7:100860401 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1683+143G>A	single nucleotide variant	not provided [RCV001639668]	Chr7:101209950 [GRCh38] Chr7:100853231 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1500+6C>T	single nucleotide variant	not provided [RCV001677938]	Chr7:101210526 [GRCh38] Chr7:100853807 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1788+50A>G	single nucleotide variant	not provided [RCV001670145]	Chr7:101208803 [GRCh38] Chr7:100852084 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1684C>T (p.Pro562Ser)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV001169951]	Chr7:101208957 [GRCh38] Chr7:100852238 [GRCh37] Chr7:7q22.1	uncertain significance
GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	copy number loss	See cases [RCV001195072]	Chr7:99593346..102470275 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_001084.5(PLOD3):c.1935+200T>C	single nucleotide variant	not provided [RCV001707506]	Chr7:101207378 [GRCh38] Chr7:100850659 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1788+49C>T	single nucleotide variant	not provided [RCV001694535]	Chr7:101208804 [GRCh38] Chr7:100852085 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1886C>T (p.Thr629Met)	single nucleotide variant	not provided [RCV001611445]	Chr7:101207627 [GRCh38] Chr7:100850908 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.560A>G (p.Asp187Gly)	single nucleotide variant	PLOD3-Related Disorder [RCV001249438]\|not provided [RCV001587284]	Chr7:101215963 [GRCh38] Chr7:100859244 [GRCh37] Chr7:7q22.1	uncertain significance\|not provided
Single allele	complex	Ring chromosome 7 [RCV002280646]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_001084.5(PLOD3):c.939C>T (p.Arg313=)	single nucleotide variant	not provided [RCV001537169]	Chr7:101212596 [GRCh38] Chr7:100855877 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.615+1G>A	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV001336174]	Chr7:101215907 [GRCh38] Chr7:100859188 [GRCh37] Chr7:7q22.1	pathogenic
NM_001084.5(PLOD3):c.700G>A (p.Asp234Asn)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV001336175]	Chr7:101213184 [GRCh38] Chr7:100856465 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.993C>T (p.Phe331=)	single nucleotide variant	not provided [RCV001539816]	Chr7:101212542 [GRCh38] Chr7:100855823 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1789-239C>T	single nucleotide variant	not provided [RCV001725531]	Chr7:101207963 [GRCh38] Chr7:100851244 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1512C>T (p.Leu504=)	single nucleotide variant	not provided [RCV001713392]	Chr7:101210433 [GRCh38] Chr7:100853714 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1128-132C>G	single nucleotide variant	not provided [RCV001655496]	Chr7:101212082 [GRCh38] Chr7:100855363 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.679+77G>A	single nucleotide variant	not provided [RCV001684959]	Chr7:101215012 [GRCh38] Chr7:100858293 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.2062-87C>T	single nucleotide variant	not provided [RCV001617706]	Chr7:101206523 [GRCh38] Chr7:100849804 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.153G>C (p.Gly51=)	single nucleotide variant	not provided [RCV003109101]	Chr7:101216743 [GRCh38] Chr7:100860024 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2061+1G>A	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV002250250]	Chr7:101206778 [GRCh38] Chr7:100850059 [GRCh37] Chr7:7q22.1	pathogenic
NM_001084.5(PLOD3):c.571G>A (p.Asp191Asn)	single nucleotide variant	Inborn genetic diseases [RCV002544176]\|not provided [RCV001769581]	Chr7:101215952 [GRCh38] Chr7:100859233 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.1262A>G (p.His421Arg)	single nucleotide variant	not provided [RCV001767964]	Chr7:101211687 [GRCh38] Chr7:100854968 [GRCh37] Chr7:7q22.1	uncertain significance
NM_006349.3(ZNHIT1):c.1A>G (p.Met1Val)	single nucleotide variant	not provided [RCV001776779]	Chr7:101218196 [GRCh38] Chr7:100861477 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.568_570delinsAAT (p.Asp190Asn)	indel	not provided [RCV001757562]	Chr7:101215953..101215955 [GRCh38] Chr7:100859234..100859236 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1935+4C>T	single nucleotide variant	not provided [RCV001928074]	Chr7:101207574 [GRCh38] Chr7:100850855 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.949C>T (p.Arg317Trp)	single nucleotide variant	not provided [RCV001950731]	Chr7:101212586 [GRCh38] Chr7:100855867 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.485G>C (p.Arg162Pro)	single nucleotide variant	not provided [RCV002045298]	Chr7:101216180 [GRCh38] Chr7:100859461 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1985C>A (p.Pro662Gln)	single nucleotide variant	not provided [RCV001895067]	Chr7:101206855 [GRCh38] Chr7:100850136 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.592C>T (p.Leu198Phe)	single nucleotide variant	not provided [RCV002008936]	Chr7:101215931 [GRCh38] Chr7:100859212 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.164T>C (p.Phe55Ser)	single nucleotide variant	not provided [RCV001864576]	Chr7:101216732 [GRCh38] Chr7:100860013 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1921G>A (p.Gly641Ser)	single nucleotide variant	not provided [RCV001872194]	Chr7:101207592 [GRCh38] Chr7:100850873 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1532A>T (p.Glu511Val)	single nucleotide variant	not provided [RCV001915277]	Chr7:101210413 [GRCh38] Chr7:100853694 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.2083C>T (p.Arg695Cys)	single nucleotide variant	not provided [RCV001864365]	Chr7:101206415 [GRCh38] Chr7:100849696 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.298T>A (p.Tyr100Asn)	single nucleotide variant	not provided [RCV001864228]	Chr7:101216450 [GRCh38] Chr7:100859731 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.749T>C (p.Ile250Thr)	single nucleotide variant	not provided [RCV002009152]	Chr7:101213135 [GRCh38] Chr7:100856416 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.976G>A (p.Asp326Asn)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV003134325]\|not provided [RCV002008833]	Chr7:101212559 [GRCh38] Chr7:100855840 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1990_1991del (p.Leu664fs)	microsatellite	not provided [RCV001930021]	Chr7:101206849..101206850 [GRCh38] Chr7:100850130..100850131 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.2113A>G (p.Lys705Glu)	single nucleotide variant	not provided [RCV001948589]	Chr7:101206385 [GRCh38] Chr7:100849666 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.176C>T (p.Ala59Val)	single nucleotide variant	Inborn genetic diseases [RCV002561513]\|not provided [RCV001984777]	Chr7:101216720 [GRCh38] Chr7:100860001 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1093G>A (p.Ala365Thr)	single nucleotide variant	Inborn genetic diseases [RCV002569184]\|not provided [RCV001968599]\|not specified [RCV003323963]	Chr7:101212287 [GRCh38] Chr7:100855568 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.1018G>C (p.Glu340Gln)	single nucleotide variant	not provided [RCV001892679]	Chr7:101212362 [GRCh38] Chr7:100855643 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1359-3C>T	single nucleotide variant	not provided [RCV001985750]	Chr7:101210676 [GRCh38] Chr7:100853957 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.796G>A (p.Gly266Arg)	single nucleotide variant	not provided [RCV001872119]	Chr7:101212925 [GRCh38] Chr7:100856206 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1417C>T (p.Arg473Trp)	single nucleotide variant	not provided [RCV002039416]	Chr7:101210615 [GRCh38] Chr7:100853896 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.887C>T (p.Pro296Leu)	single nucleotide variant	not provided [RCV001985087]	Chr7:101212648 [GRCh38] Chr7:100855929 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.986C>T (p.Thr329Ile)	single nucleotide variant	not provided [RCV001908285]	Chr7:101212549 [GRCh38] Chr7:100855830 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1447T>G (p.Ser483Ala)	single nucleotide variant	not provided [RCV002004646]	Chr7:101210585 [GRCh38] Chr7:100853866 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.247A>G (p.Thr83Ala)	single nucleotide variant	not provided [RCV001965353]	Chr7:101216501 [GRCh38] Chr7:100859782 [GRCh37] Chr7:7q22.1	uncertain significance
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	copy number loss	not specified [RCV002053711]	Chr7:99417471..111586308 [GRCh37] Chr7:7q22.1-31.1	pathogenic
NM_001084.5(PLOD3):c.709C>T (p.Arg237Cys)	single nucleotide variant	Inborn genetic diseases [RCV002555620]\|not provided [RCV001911305]	Chr7:101213175 [GRCh38] Chr7:100856456 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	copy number loss	not specified [RCV002053712]	Chr7:100676872..119156160 [GRCh37] Chr7:7q22.1-31.31	pathogenic
NM_001084.5(PLOD3):c.2109G>C (p.Pro703=)	single nucleotide variant	not provided [RCV002023028]	Chr7:101206389 [GRCh38] Chr7:100849670 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.1541G>A (p.Arg514Gln)	single nucleotide variant	not provided [RCV002006545]	Chr7:101210404 [GRCh38] Chr7:100853685 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1273T>C (p.Trp425Arg)	single nucleotide variant	not provided [RCV001895021]	Chr7:101211676 [GRCh38] Chr7:100854957 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1424A>C (p.Glu475Ala)	single nucleotide variant	not provided [RCV002005901]	Chr7:101210608 [GRCh38] Chr7:100853889 [GRCh37] Chr7:7q22.1	uncertain significance
NC_000007.13:g.(?_100849562)_(100850205_?)dup	duplication	not provided [RCV001969958]	Chr7:100849562..100850205 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.104A>G (p.Asn35Ser)	single nucleotide variant	not provided [RCV002039429]	Chr7:101217171 [GRCh38] Chr7:100860452 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1211G>A (p.Arg404His)	single nucleotide variant	not provided [RCV001967985]	Chr7:101211867 [GRCh38] Chr7:100855148 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.872G>C (p.Gly291Ala)	single nucleotide variant	not provided [RCV001892152]	Chr7:101212849 [GRCh38] Chr7:100856130 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1866G>C (p.Gln622His)	single nucleotide variant	not provided [RCV001968905]	Chr7:101207647 [GRCh38] Chr7:100850928 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1304A>C (p.Asp435Ala)	single nucleotide variant	not provided [RCV002021231]	Chr7:101211645 [GRCh38] Chr7:100854926 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1030G>A (p.Ala344Thr)	single nucleotide variant	not provided [RCV002021366]	Chr7:101212350 [GRCh38] Chr7:100855631 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.537C>A (p.Ile179=)	single nucleotide variant	not provided [RCV001913230]	Chr7:101215986 [GRCh38] Chr7:100859267 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1005+5G>A	single nucleotide variant	not provided [RCV001927020]	Chr7:101212525 [GRCh38] Chr7:100855806 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.2084G>A (p.Arg695His)	single nucleotide variant	not provided [RCV002023859]	Chr7:101206414 [GRCh38] Chr7:100849695 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1690C>T (p.Pro564Ser)	single nucleotide variant	not provided [RCV001963668]	Chr7:101208951 [GRCh38] Chr7:100852232 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.308G>A (p.Arg103Gln)	single nucleotide variant	Inborn genetic diseases [RCV003167244]\|not provided [RCV001926132]	Chr7:101216440 [GRCh38] Chr7:100859721 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.890G>A (p.Arg297Gln)	single nucleotide variant	not provided [RCV001936502]	Chr7:101212645 [GRCh38] Chr7:100855926 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.1284C>G (p.Phe428Leu)	single nucleotide variant	not provided [RCV001998578]	Chr7:101211665 [GRCh38] Chr7:100854946 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1243G>A (p.Ala415Thr)	single nucleotide variant	not provided [RCV002015826]	Chr7:101211706 [GRCh38] Chr7:100854987 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.667A>C (p.Asn223His)	single nucleotide variant	Inborn genetic diseases [RCV002558459]\|not provided [RCV001926259]	Chr7:101215101 [GRCh38] Chr7:100858382 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.520A>G (p.Thr174Ala)	single nucleotide variant	not provided [RCV001885616]	Chr7:101216003 [GRCh38] Chr7:100859284 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1553C>A (p.Thr518Asn)	single nucleotide variant	not provided [RCV001982523]	Chr7:101210392 [GRCh38] Chr7:100853673 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.2151C>T (p.His717=)	single nucleotide variant	not provided [RCV001974132]	Chr7:101206347 [GRCh38] Chr7:100849628 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.826G>C (p.Glu276Gln)	single nucleotide variant	not provided [RCV002038186]	Chr7:101212895 [GRCh38] Chr7:100856176 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.2061+5G>A	single nucleotide variant	not provided [RCV001962656]	Chr7:101206774 [GRCh38] Chr7:100850055 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.641A>G (p.His214Arg)	single nucleotide variant	not provided [RCV001885019]	Chr7:101215127 [GRCh38] Chr7:100858408 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1359-17G>A	single nucleotide variant	not provided [RCV002038750]	Chr7:101210690 [GRCh38] Chr7:100853971 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1937C>T (p.Ala646Val)	single nucleotide variant	Inborn genetic diseases [RCV002545502]\|not provided [RCV002048066]	Chr7:101206903 [GRCh38] Chr7:100850184 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.2209G>A (p.Asp737Asn)	single nucleotide variant	not provided [RCV001880960]	Chr7:101206289 [GRCh38] Chr7:100849570 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1781G>A (p.Arg594Gln)	single nucleotide variant	Inborn genetic diseases [RCV002573555]\|not provided [RCV001994390]	Chr7:101208860 [GRCh38] Chr7:100852141 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.1943C>T (p.Ala648Val)	single nucleotide variant	not provided [RCV001903886]	Chr7:101206897 [GRCh38] Chr7:100850178 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1910G>T (p.Ser637Ile)	single nucleotide variant	not provided [RCV001876666]	Chr7:101207603 [GRCh38] Chr7:100850884 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.872G>T (p.Gly291Val)	single nucleotide variant	not provided [RCV001921960]	Chr7:101212849 [GRCh38] Chr7:100856130 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1964G>A (p.Arg655His)	single nucleotide variant	not provided [RCV001899523]	Chr7:101206876 [GRCh38] Chr7:100850157 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1291G>A (p.Ala431Thr)	single nucleotide variant	not provided [RCV002032258]	Chr7:101211658 [GRCh38] Chr7:100854939 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1004A>G (p.Asn335Ser)	single nucleotide variant	not provided [RCV001952224]	Chr7:101212531 [GRCh38] Chr7:100855812 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1394A>G (p.Tyr465Cys)	single nucleotide variant	not provided [RCV001899789]	Chr7:101210638 [GRCh38] Chr7:100853919 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1709C>T (p.Pro570Leu)	single nucleotide variant	not provided [RCV001978249]	Chr7:101208932 [GRCh38] Chr7:100852213 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.983T>C (p.Val328Ala)	single nucleotide variant	not provided [RCV002050278]	Chr7:101212552 [GRCh38] Chr7:100855833 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1255T>A (p.Ser419Thr)	single nucleotide variant	not provided [RCV001869988]	Chr7:101211694 [GRCh38] Chr7:100854975 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.950G>A (p.Arg317Gln)	single nucleotide variant	not provided [RCV001995504]	Chr7:101212585 [GRCh38] Chr7:100855866 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1614C>T (p.Val538=)	single nucleotide variant	not provided [RCV002014232]	Chr7:101210331 [GRCh38] Chr7:100853612 [GRCh37] Chr7:7q22.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_001084.5(PLOD3):c.338+6G>C	single nucleotide variant	Inborn genetic diseases [RCV002563555]\|not provided [RCV001997582]	Chr7:101216404 [GRCh38] Chr7:100859685 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1780C>T (p.Arg594Trp)	single nucleotide variant	not provided [RCV001953082]	Chr7:101208861 [GRCh38] Chr7:100852142 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.833G>A (p.Gly278Asp)	single nucleotide variant	not provided [RCV001905788]	Chr7:101212888 [GRCh38] Chr7:100856169 [GRCh37] Chr7:7q22.1	uncertain significance
NC_000007.13:g.(?_98983338)_(100860555_?)del	deletion	not provided [RCV001877526]	Chr7:98983338..100860555 [GRCh37] Chr7:7q22.1	pathogenic\|uncertain significance
NM_001084.5(PLOD3):c.1039T>C (p.Trp347Arg)	single nucleotide variant	not provided [RCV002033738]	Chr7:101212341 [GRCh38] Chr7:100855622 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.23C>T (p.Pro8Leu)	single nucleotide variant	not provided [RCV001885880]	Chr7:101217252 [GRCh38] Chr7:100860533 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1988C>G (p.Ser663Cys)	single nucleotide variant	Inborn genetic diseases [RCV003164000]\|not provided [RCV002049776]	Chr7:101206852 [GRCh38] Chr7:100850133 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1085C>T (p.Pro362Leu)	single nucleotide variant	Inborn genetic diseases [RCV002557717]\|not provided [RCV001935524]	Chr7:101212295 [GRCh38] Chr7:100855576 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.640C>T (p.His214Tyr)	single nucleotide variant	not provided [RCV001977128]	Chr7:101215128 [GRCh38] Chr7:100858409 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.244C>T (p.Arg82Ter)	single nucleotide variant	not provided [RCV001936475]	Chr7:101216504 [GRCh38] Chr7:100859785 [GRCh37] Chr7:7q22.1	pathogenic\|uncertain significance
NM_001084.5(PLOD3):c.889dup (p.Arg297fs)	duplication	not provided [RCV001957118]	Chr7:101212645..101212646 [GRCh38] Chr7:100855926..100855927 [GRCh37] Chr7:7q22.1	pathogenic\|uncertain significance
NM_001084.5(PLOD3):c.511G>A (p.Gly171Ser)	single nucleotide variant	Inborn genetic diseases [RCV002548998]\|not provided [RCV002034009]	Chr7:101216012 [GRCh38] Chr7:100859293 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.1788+14C>T	single nucleotide variant	not provided [RCV001980394]	Chr7:101208839 [GRCh38] Chr7:100852120 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.982G>C (p.Val328Leu)	single nucleotide variant	not provided [RCV001897361]	Chr7:101212553 [GRCh38] Chr7:100855834 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.2028C>T (p.Asn676=)	single nucleotide variant	not provided [RCV002047709]	Chr7:101206812 [GRCh38] Chr7:100850093 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2089G>A (p.Asp697Asn)	single nucleotide variant	not provided [RCV001901526]	Chr7:101206409 [GRCh38] Chr7:100849690 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.2039A>G (p.Asn680Ser)	single nucleotide variant	not provided [RCV001981657]	Chr7:101206801 [GRCh38] Chr7:100850082 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.568G>A (p.Asp190Asn)	single nucleotide variant	not provided [RCV001977513]	Chr7:101215955 [GRCh38] Chr7:100859236 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1439A>G (p.Asp480Gly)	single nucleotide variant	not provided [RCV001940226]	Chr7:101210593 [GRCh38] Chr7:100853874 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.169C>T (p.Arg57Cys)	single nucleotide variant	not provided [RCV001938046]	Chr7:101216727 [GRCh38] Chr7:100860008 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.703C>T (p.Arg235Trp)	single nucleotide variant	not provided [RCV002036523]	Chr7:101213181 [GRCh38] Chr7:100856462 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.961C>A (p.Leu321Met)	single nucleotide variant	not provided [RCV001907364]	Chr7:101212574 [GRCh38] Chr7:100855855 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1500+7G>A	single nucleotide variant	PLOD3-related condition [RCV003968622]\|not provided [RCV001906105]	Chr7:101210525 [GRCh38] Chr7:100853806 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.22C>T (p.Pro8Ser)	single nucleotide variant	Inborn genetic diseases [RCV002555219]\|not provided [RCV001884631]	Chr7:101217253 [GRCh38] Chr7:100860534 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1727T>C (p.Met576Thr)	single nucleotide variant	not provided [RCV001922500]	Chr7:101208914 [GRCh38] Chr7:100852195 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1129G>A (p.Asp377Asn)	single nucleotide variant	not provided [RCV001885658]	Chr7:101211949 [GRCh38] Chr7:100855230 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.788A>G (p.Asn263Ser)	single nucleotide variant	not provided [RCV001864685]	Chr7:101212933 [GRCh38] Chr7:100856214 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.22C>A (p.Pro8Thr)	single nucleotide variant	not provided [RCV001915798]	Chr7:101217253 [GRCh38] Chr7:100860534 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1089G>T (p.Glu363Asp)	single nucleotide variant	not provided [RCV002047115]	Chr7:101212291 [GRCh38] Chr7:100855572 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1562A>G (p.Tyr521Cys)	single nucleotide variant	not provided [RCV001952442]	Chr7:101210383 [GRCh38] Chr7:100853664 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1831G>A (p.Asp611Asn)	single nucleotide variant	not provided [RCV001989287]	Chr7:101207682 [GRCh38] Chr7:100850963 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.876dup (p.Gln293fs)	duplication	not provided [RCV001936440]	Chr7:101212844..101212845 [GRCh38] Chr7:100856125..100856126 [GRCh37] Chr7:7q22.1	pathogenic\|uncertain significance
NM_001084.5(PLOD3):c.2163del (p.Leu722fs)	deletion	not provided [RCV002017026]	Chr7:101206335 [GRCh38] Chr7:100849616 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1448C>T (p.Ser483Leu)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV003134190]\|not provided [RCV001897589]	Chr7:101210584 [GRCh38] Chr7:100853865 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1858G>A (p.Glu620Lys)	single nucleotide variant	not provided [RCV002033721]	Chr7:101207655 [GRCh38] Chr7:100850936 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1776C>T (p.Gly592=)	single nucleotide variant	not provided [RCV002124922]	Chr7:101208865 [GRCh38] Chr7:100852146 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1501-16C>T	single nucleotide variant	not provided [RCV002071159]	Chr7:101210460 [GRCh38] Chr7:100853741 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1551C>T (p.Ala517=)	single nucleotide variant	not provided [RCV002190555]	Chr7:101210394 [GRCh38] Chr7:100853675 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1827C>T (p.Thr609=)	single nucleotide variant	not provided [RCV002210748]	Chr7:101207686 [GRCh38] Chr7:100850967 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.471G>A (p.Val157=)	single nucleotide variant	not provided [RCV002073916]	Chr7:101216194 [GRCh38] Chr7:100859475 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1500+17G>A	single nucleotide variant	not provided [RCV002206357]	Chr7:101210515 [GRCh38] Chr7:100853796 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.680-4C>G	single nucleotide variant	not provided [RCV002090645]	Chr7:101213208 [GRCh38] Chr7:100856489 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.201+20C>T	single nucleotide variant	not provided [RCV002188085]	Chr7:101216675 [GRCh38] Chr7:100859956 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.2184A>G (p.Thr728=)	single nucleotide variant	not provided [RCV002147075]	Chr7:101206314 [GRCh38] Chr7:100849595 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1501-10C>T	single nucleotide variant	PLOD3-related condition [RCV003968713]\|not provided [RCV002072667]	Chr7:101210454 [GRCh38] Chr7:100853735 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.321C>A (p.Ile107=)	single nucleotide variant	not provided [RCV002106891]	Chr7:101216427 [GRCh38] Chr7:100859708 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2061+7C>A	single nucleotide variant	not provided [RCV002089971]	Chr7:101206772 [GRCh38] Chr7:100850053 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.999C>T (p.His333=)	single nucleotide variant	not provided [RCV002187686]	Chr7:101212536 [GRCh38] Chr7:100855817 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1006-3del	deletion	not provided [RCV002152351]	Chr7:101212377 [GRCh38] Chr7:100855658 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1380C>T (p.Tyr460=)	single nucleotide variant	not provided [RCV002174964]	Chr7:101210652 [GRCh38] Chr7:100853933 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.680-15C>T	single nucleotide variant	not provided [RCV002153032]	Chr7:101213219 [GRCh38] Chr7:100856500 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.452C>T (p.Ala151Val)	single nucleotide variant	not provided [RCV002078548]	Chr7:101216213 [GRCh38] Chr7:100859494 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1788+12G>A	single nucleotide variant	not provided [RCV002153199]	Chr7:101208841 [GRCh38] Chr7:100852122 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2157C>T (p.His719=)	single nucleotide variant	not provided [RCV002108320]	Chr7:101206341 [GRCh38] Chr7:100849622 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1037C>T (p.Ser346Phe)	single nucleotide variant	not provided [RCV002105029]	Chr7:101212343 [GRCh38] Chr7:100855624 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.411C>T (p.Leu137=)	single nucleotide variant	not provided [RCV002097428]	Chr7:101216254 [GRCh38] Chr7:100859535 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.880-16G>A	single nucleotide variant	not provided [RCV002132028]	Chr7:101212671 [GRCh38] Chr7:100855952 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.2136C>T (p.Pro712=)	single nucleotide variant	not provided [RCV002207133]	Chr7:101206362 [GRCh38] Chr7:100849643 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1684-13G>A	single nucleotide variant	not provided [RCV002132425]	Chr7:101208970 [GRCh38] Chr7:100852251 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.879+19G>A	single nucleotide variant	not provided [RCV002205947]	Chr7:101212823 [GRCh38] Chr7:100856104 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1127+16C>T	single nucleotide variant	not provided [RCV002133617]	Chr7:101212237 [GRCh38] Chr7:100855518 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1044G>A (p.Pro348=)	single nucleotide variant	not provided [RCV002109439]	Chr7:101212336 [GRCh38] Chr7:100855617 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1500+16C>G	single nucleotide variant	not provided [RCV002129088]	Chr7:101210516 [GRCh38] Chr7:100853797 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1569G>A (p.Thr523=)	single nucleotide variant	not provided [RCV002116292]	Chr7:101210376 [GRCh38] Chr7:100853657 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1232+8A>C	single nucleotide variant	not provided [RCV002076197]	Chr7:101211838 [GRCh38] Chr7:100855119 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1245C>A (p.Ala415=)	single nucleotide variant	not provided [RCV002086075]	Chr7:101211704 [GRCh38] Chr7:100854985 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2088C>T (p.Tyr696=)	single nucleotide variant	PLOD3-related condition [RCV003978472]\|not provided [RCV002096812]	Chr7:101206410 [GRCh38] Chr7:100849691 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.503-11C>T	single nucleotide variant	not provided [RCV002129865]	Chr7:101216031 [GRCh38] Chr7:100859312 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1005+9C>A	single nucleotide variant	not provided [RCV002094810]	Chr7:101212521 [GRCh38] Chr7:100855802 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1990C>T (p.Leu664=)	single nucleotide variant	not provided [RCV002148592]	Chr7:101206850 [GRCh38] Chr7:100850131 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.616-19C>T	single nucleotide variant	not provided [RCV002153351]	Chr7:101215171 [GRCh38] Chr7:100858452 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.480G>A (p.Gly160=)	single nucleotide variant	not provided [RCV002097237]	Chr7:101216185 [GRCh38] Chr7:100859466 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1107C>G (p.Gly369=)	single nucleotide variant	not provided [RCV002174573]	Chr7:101212273 [GRCh38] Chr7:100855554 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.177G>C (p.Ala59=)	single nucleotide variant	not provided [RCV002137431]	Chr7:101216719 [GRCh38] Chr7:100860000 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.567C>T (p.Asp189=)	single nucleotide variant	not provided [RCV002137813]	Chr7:101215956 [GRCh38] Chr7:100859237 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1501-8dup	duplication	not provided [RCV002083621]	Chr7:101210451..101210452 [GRCh38] Chr7:100853732..100853733 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1086G>A (p.Pro362=)	single nucleotide variant	not provided [RCV002100556]	Chr7:101212294 [GRCh38] Chr7:100855575 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1615-13dup	duplication	not provided [RCV002158718]	Chr7:101210173..101210174 [GRCh38] Chr7:100853454..100853455 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.202-20C>T	single nucleotide variant	not provided [RCV002219576]	Chr7:101216566 [GRCh38] Chr7:100859847 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1359-20C>G	single nucleotide variant	not provided [RCV002155340]	Chr7:101210693 [GRCh38] Chr7:100853974 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.812A>G (p.Asn271Ser)	single nucleotide variant	not provided [RCV002123010]	Chr7:101212909 [GRCh38] Chr7:100856190 [GRCh37] Chr7:7q22.1	benign\|likely benign
NM_001084.5(PLOD3):c.616-17C>T	single nucleotide variant	not provided [RCV002123023]	Chr7:101215169 [GRCh38] Chr7:100858450 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1359-18C>T	single nucleotide variant	not provided [RCV002142815]	Chr7:101210691 [GRCh38] Chr7:100853972 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1232+20C>T	single nucleotide variant	not provided [RCV002175402]	Chr7:101211826 [GRCh38] Chr7:100855107 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1233-13C>G	single nucleotide variant	not provided [RCV002198011]	Chr7:101211729 [GRCh38] Chr7:100855010 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1683+11G>A	single nucleotide variant	not provided [RCV002163638]	Chr7:101210082 [GRCh38] Chr7:100853363 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1233-8G>C	single nucleotide variant	not provided [RCV002098964]	Chr7:101211724 [GRCh38] Chr7:100855005 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.616-18G>A	single nucleotide variant	not provided [RCV002136591]	Chr7:101215170 [GRCh38] Chr7:100858451 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.679+19G>A	single nucleotide variant	not provided [RCV002122501]	Chr7:101215070 [GRCh38] Chr7:100858351 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1674C>T (p.Ile558=)	single nucleotide variant	not provided [RCV002162683]	Chr7:101210102 [GRCh38] Chr7:100853383 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1476C>A (p.Ala492=)	single nucleotide variant	not provided [RCV002176542]	Chr7:101210556 [GRCh38] Chr7:100853837 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.345C>T (p.Asp115=)	single nucleotide variant	not provided [RCV002155285]	Chr7:101216320 [GRCh38] Chr7:100859601 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1789-12C>T	single nucleotide variant	not provided [RCV002164480]	Chr7:101207736 [GRCh38] Chr7:100851017 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1615-13C>A	single nucleotide variant	not provided [RCV002176885]	Chr7:101210174 [GRCh38] Chr7:100853455 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2061+14AC[3]	microsatellite	not provided [RCV002097782]	Chr7:101206761..101206762 [GRCh38] Chr7:100850042..100850043 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.120G>C (p.Leu40=)	single nucleotide variant	not provided [RCV002220415]	Chr7:101216776 [GRCh38] Chr7:100860057 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1614+17C>T	single nucleotide variant	not provided [RCV002140526]	Chr7:101210314 [GRCh38] Chr7:100853595 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.403C>T (p.Arg135Cys)	single nucleotide variant	not provided [RCV002117759]	Chr7:101216262 [GRCh38] Chr7:100859543 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1359-19G>A	single nucleotide variant	not provided [RCV002139745]	Chr7:101210692 [GRCh38] Chr7:100853973 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1944G>A (p.Ala648=)	single nucleotide variant	not provided [RCV002083139]	Chr7:101206896 [GRCh38] Chr7:100850177 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.201+17G>A	single nucleotide variant	not provided [RCV002197922]	Chr7:101216678 [GRCh38] Chr7:100859959 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1302C>T (p.Pro434=)	single nucleotide variant	not provided [RCV002204382]	Chr7:101211647 [GRCh38] Chr7:100854928 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1788+15G>A	single nucleotide variant	not provided [RCV002140260]	Chr7:101208838 [GRCh38] Chr7:100852119 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1906G>A (p.Glu636Lys)	single nucleotide variant	not provided [RCV003116176]	Chr7:101207607 [GRCh38] Chr7:100850888 [GRCh37] Chr7:7q22.1	uncertain significance
NC_000007.13:g.(?_98507659)_(100860555_?)dup	duplication	not provided [RCV003113282]	Chr7:98507659..100860555 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.650G>A (p.Arg217Gln)	single nucleotide variant	not provided [RCV003112319]	Chr7:101215118 [GRCh38] Chr7:100858399 [GRCh37] Chr7:7q22.1	uncertain significance
NC_000007.13:g.(?_100853354)_(100860555_?)dup	duplication	not provided [RCV003122510]	Chr7:100853354..100860555 [GRCh37] Chr7:7q22.1	uncertain significance
NC_000007.13:g.(?_100852114)_(100860555_?)dup	duplication	not provided [RCV003122511]	Chr7:100852114..100860555 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1500+9G>A	single nucleotide variant	not provided [RCV003121853]	Chr7:101210523 [GRCh38] Chr7:100853804 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1112C>T (p.Ala371Val)	single nucleotide variant	not provided [RCV003118442]	Chr7:101212268 [GRCh38] Chr7:100855549 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.722G>A (p.Arg241Gln)	single nucleotide variant	not provided [RCV003120012]	Chr7:101213162 [GRCh38] Chr7:100856443 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1233-9T>A	single nucleotide variant	not provided [RCV003121076]	Chr7:101211725 [GRCh38] Chr7:100855006 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.593T>C (p.Leu198Pro)	single nucleotide variant	Hemorrhage, intracerebral, susceptibility to [RCV002273898]	Chr7:101215930 [GRCh38] Chr7:100859211 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.589C>T (p.Arg197Trp)	single nucleotide variant	Hemorrhage, intracerebral, susceptibility to [RCV002273899]	Chr7:101215934 [GRCh38] Chr7:100859215 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.53_65dup (p.Ser23fs)	duplication	not provided [RCV003666074]	Chr7:101217209..101217210 [GRCh38] Chr7:100860490..100860491 [GRCh37] Chr7:7q22.1	pathogenic
NM_001084.5(PLOD3):c.616-111C>G	single nucleotide variant	not provided [RCV002285880]	Chr7:101215263 [GRCh38] Chr7:100858544 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.209G>A (p.Gly70Asp)	single nucleotide variant	Neurodevelopmental delay [RCV002274425]	Chr7:101216539 [GRCh38] Chr7:100859820 [GRCh37] Chr7:7q22.1	likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	copy number loss	See cases [RCV002287832]	Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3	uncertain significance
NM_001084.5(PLOD3):c.615+235del	deletion	not provided [RCV002285710]	Chr7:101215673 [GRCh38] Chr7:100858954 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.88G>T (p.Gly30Cys)	single nucleotide variant	Inborn genetic diseases [RCV003299738]	Chr7:101217187 [GRCh38] Chr7:100860468 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.857G>A (p.Arg286Gln)	single nucleotide variant	Inborn genetic diseases [RCV003259620]	Chr7:101212864 [GRCh38] Chr7:100856145 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.889C>G (p.Arg297Gly)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV002471410]	Chr7:101212646 [GRCh38] Chr7:100855927 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.494A>G (p.Asn165Ser)	single nucleotide variant	Inborn genetic diseases [RCV002682683]	Chr7:101216171 [GRCh38] Chr7:100859452 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1614+18G>A	single nucleotide variant	not provided [RCV002613708]	Chr7:101210313 [GRCh38] Chr7:100853594 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.313G>A (p.Asp105Asn)	single nucleotide variant	not provided [RCV002751633]	Chr7:101216435 [GRCh38] Chr7:100859716 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.85C>T (p.Arg29Trp)	single nucleotide variant	Inborn genetic diseases [RCV002879542]	Chr7:101217190 [GRCh38] Chr7:100860471 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1086G>C (p.Pro362=)	single nucleotide variant	not provided [RCV002991656]	Chr7:101212294 [GRCh38] Chr7:100855575 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1829T>C (p.Val610Ala)	single nucleotide variant	Inborn genetic diseases [RCV002752219]	Chr7:101207684 [GRCh38] Chr7:100850965 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1966T>C (p.Tyr656His)	single nucleotide variant	Inborn genetic diseases [RCV002970847]\|not provided [RCV002970848]	Chr7:101206874 [GRCh38] Chr7:100850155 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.202-1G>T	single nucleotide variant	not provided [RCV002858007]	Chr7:101216547 [GRCh38] Chr7:100859828 [GRCh37] Chr7:7q22.1	likely pathogenic\|uncertain significance
NM_001084.5(PLOD3):c.76G>A (p.Asp26Asn)	single nucleotide variant	not provided [RCV002907847]	Chr7:101217199 [GRCh38] Chr7:100860480 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.879+18G>A	single nucleotide variant	not provided [RCV003035222]	Chr7:101212824 [GRCh38] Chr7:100856105 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.927G>A (p.Pro309=)	single nucleotide variant	not provided [RCV002776379]	Chr7:101212608 [GRCh38] Chr7:100855889 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1935+11C>T	single nucleotide variant	not provided [RCV002996612]	Chr7:101207567 [GRCh38] Chr7:100850848 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1338G>A (p.Glu446=)	single nucleotide variant	not provided [RCV002618084]	Chr7:101211611 [GRCh38] Chr7:100854892 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.343G>A (p.Asp115Asn)	single nucleotide variant	not provided [RCV002947212]	Chr7:101216322 [GRCh38] Chr7:100859603 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.502+12A>C	single nucleotide variant	not provided [RCV002636214]	Chr7:101216151 [GRCh38] Chr7:100859432 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2163G>T (p.Gly721=)	single nucleotide variant	not provided [RCV002734924]	Chr7:101206335 [GRCh38] Chr7:100849616 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.982G>T (p.Val328Phe)	single nucleotide variant	not provided [RCV003015838]	Chr7:101212553 [GRCh38] Chr7:100855834 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1180G>A (p.Asp394Asn)	single nucleotide variant	Inborn genetic diseases [RCV002997214]\|not provided [RCV003108209]	Chr7:101211898 [GRCh38] Chr7:100855179 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.268G>T (p.Val90Phe)	single nucleotide variant	not provided [RCV003017326]	Chr7:101216480 [GRCh38] Chr7:100859761 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1935+4_1935+7dup	duplication	not provided [RCV002967691]	Chr7:101207570..101207571 [GRCh38] Chr7:100850851..100850852 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.338+14G>A	single nucleotide variant	not provided [RCV002858262]	Chr7:101216396 [GRCh38] Chr7:100859677 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2074C>T (p.Arg692Cys)	single nucleotide variant	Inborn genetic diseases [RCV002616257]\|not provided [RCV002616256]	Chr7:101206424 [GRCh38] Chr7:100849705 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.649C>T (p.Arg217Trp)	single nucleotide variant	not provided [RCV002995975]	Chr7:101215119 [GRCh38] Chr7:100858400 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1043C>T (p.Pro348Leu)	single nucleotide variant	not provided [RCV003075750]	Chr7:101212337 [GRCh38] Chr7:100855618 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.2141G>A (p.Arg714His)	single nucleotide variant	Inborn genetic diseases [RCV002687198]	Chr7:101206357 [GRCh38] Chr7:100849638 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1935+17C>T	single nucleotide variant	not provided [RCV002970691]	Chr7:101207561 [GRCh38] Chr7:100850842 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.870G>A (p.Pro290=)	single nucleotide variant	not provided [RCV002751230]	Chr7:101212851 [GRCh38] Chr7:100856132 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.81G>A (p.Arg27=)	single nucleotide variant	PLOD3-related condition [RCV003916745]\|not provided [RCV003075737]	Chr7:101217194 [GRCh38] Chr7:100860475 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1969C>T (p.Arg657Trp)	single nucleotide variant	not provided [RCV002730517]	Chr7:101206871 [GRCh38] Chr7:100850152 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1078G>A (p.Val360Met)	single nucleotide variant	not provided [RCV003076133]	Chr7:101212302 [GRCh38] Chr7:100855583 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.84C>A (p.Pro28=)	single nucleotide variant	not provided [RCV002889513]	Chr7:101217191 [GRCh38] Chr7:100860472 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.109G>A (p.Glu37Lys)	single nucleotide variant	not provided [RCV002927916]	Chr7:101217166 [GRCh38] Chr7:100860447 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1919C>T (p.Pro640Leu)	single nucleotide variant	not provided [RCV002663114]	Chr7:101207594 [GRCh38] Chr7:100850875 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.268G>A (p.Val90Ile)	single nucleotide variant	not provided [RCV002976199]	Chr7:101216480 [GRCh38] Chr7:100859761 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1936-5C>G	single nucleotide variant	Inborn genetic diseases [RCV002707485]	Chr7:101206909 [GRCh38] Chr7:100850190 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.346G>A (p.Val116Met)	single nucleotide variant	Inborn genetic diseases [RCV002621272]\|not provided [RCV002608637]	Chr7:101216319 [GRCh38] Chr7:100859600 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.604C>G (p.Pro202Ala)	single nucleotide variant	not provided [RCV002590927]	Chr7:101215919 [GRCh38] Chr7:100859200 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1869G>A (p.Trp623Ter)	single nucleotide variant	not provided [RCV002622836]	Chr7:101207644 [GRCh38] Chr7:100850925 [GRCh37] Chr7:7q22.1	pathogenic\|uncertain significance
NM_001084.5(PLOD3):c.1086G>T (p.Pro362=)	single nucleotide variant	not provided [RCV002825240]	Chr7:101212294 [GRCh38] Chr7:100855575 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1359-20C>A	single nucleotide variant	not provided [RCV002847311]	Chr7:101210693 [GRCh38] Chr7:100853974 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.946C>T (p.Gln316Ter)	single nucleotide variant	not provided [RCV002569992]	Chr7:101212589 [GRCh38] Chr7:100855870 [GRCh37] Chr7:7q22.1	pathogenic\|uncertain significance
NM_001084.5(PLOD3):c.1651C>T (p.Arg551Trp)	single nucleotide variant	Inborn genetic diseases [RCV002694406]	Chr7:101210125 [GRCh38] Chr7:100853406 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.2062-5T>A	single nucleotide variant	not provided [RCV002949063]	Chr7:101206441 [GRCh38] Chr7:100849722 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1585G>A (p.Asp529Asn)	single nucleotide variant	not provided [RCV002637851]	Chr7:101210360 [GRCh38] Chr7:100853641 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1474G>A (p.Ala492Thr)	single nucleotide variant	not provided [RCV002781023]	Chr7:101210558 [GRCh38] Chr7:100853839 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.871G>A (p.Gly291Arg)	single nucleotide variant	Inborn genetic diseases [RCV002822813]	Chr7:101212850 [GRCh38] Chr7:100856131 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1882C>T (p.Arg628Trp)	single nucleotide variant	Inborn genetic diseases [RCV002694550]	Chr7:101207631 [GRCh38] Chr7:100850912 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1556C>A (p.Ser519Tyr)	single nucleotide variant	not provided [RCV002867426]	Chr7:101210389 [GRCh38] Chr7:100853670 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.618G>A (p.Glu206=)	single nucleotide variant	not provided [RCV002823960]	Chr7:101215150 [GRCh38] Chr7:100858431 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1982_1996dup (p.Arg665_Pro666insGlnProSerLeuArg)	duplication	not provided [RCV002949021]	Chr7:101206843..101206844 [GRCh38] Chr7:100850124..100850125 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.680-16C>A	single nucleotide variant	not provided [RCV002592812]	Chr7:101213220 [GRCh38] Chr7:100856501 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.643A>G (p.Lys215Glu)	single nucleotide variant	not provided [RCV003019104]	Chr7:101215125 [GRCh38] Chr7:100858406 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.110-13C>T	single nucleotide variant	not provided [RCV002694840]	Chr7:101216799 [GRCh38] Chr7:100860080 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.201+13A>C	single nucleotide variant	not provided [RCV002640164]	Chr7:101216682 [GRCh38] Chr7:100859963 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1691C>T (p.Pro564Leu)	single nucleotide variant	not provided [RCV002621109]	Chr7:101208950 [GRCh38] Chr7:100852231 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1444T>G (p.Phe482Val)	single nucleotide variant	not provided [RCV002695630]	Chr7:101210588 [GRCh38] Chr7:100853869 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1065A>G (p.Ser355=)	single nucleotide variant	not provided [RCV003019244]	Chr7:101212315 [GRCh38] Chr7:100855596 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1332C>T (p.Tyr444=)	single nucleotide variant	not provided [RCV002636828]	Chr7:101211617 [GRCh38] Chr7:100854898 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2054A>G (p.Asp685Gly)	single nucleotide variant	Inborn genetic diseases [RCV002707460]	Chr7:101206786 [GRCh38] Chr7:100850067 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1894G>A (p.Gly632Ser)	single nucleotide variant	not provided [RCV002760519]	Chr7:101207619 [GRCh38] Chr7:100850900 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.702T>A (p.Asp234Glu)	single nucleotide variant	not provided [RCV002976400]	Chr7:101213182 [GRCh38] Chr7:100856463 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.367A>G (p.Thr123Ala)	single nucleotide variant	not provided [RCV002705484]	Chr7:101216298 [GRCh38] Chr7:100859579 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1936-3C>T	single nucleotide variant	Inborn genetic diseases [RCV003084735]\|not provided [RCV003084736]	Chr7:101206907 [GRCh38] Chr7:100850188 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.1127+12C>T	single nucleotide variant	not provided [RCV002627285]	Chr7:101212241 [GRCh38] Chr7:100855522 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.715C>T (p.Arg239Cys)	single nucleotide variant	not provided [RCV002645726]	Chr7:101213169 [GRCh38] Chr7:100856450 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.616-4T>G	single nucleotide variant	not provided [RCV003043509]	Chr7:101215156 [GRCh38] Chr7:100858437 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1128-16C>T	single nucleotide variant	not provided [RCV002790068]	Chr7:101211966 [GRCh38] Chr7:100855247 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.11C>T (p.Ser4Leu)	single nucleotide variant	not provided [RCV002576291]	Chr7:101217264 [GRCh38] Chr7:100860545 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.903C>T (p.Ala301=)	single nucleotide variant	PLOD3-related condition [RCV003963627]\|not provided [RCV003081965]	Chr7:101212632 [GRCh38] Chr7:100855913 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.167T>G (p.Leu56Arg)	single nucleotide variant	not provided [RCV002642508]	Chr7:101216729 [GRCh38] Chr7:100860010 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.503-18A>G	single nucleotide variant	not provided [RCV003057700]	Chr7:101216038 [GRCh38] Chr7:100859319 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1245C>T (p.Ala415=)	single nucleotide variant	not provided [RCV002643122]	Chr7:101211704 [GRCh38] Chr7:100854985 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1883G>A (p.Arg628Gln)	single nucleotide variant	Inborn genetic diseases [RCV002595180]\|not provided [RCV002595181]	Chr7:101207630 [GRCh38] Chr7:100850911 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.865C>T (p.Leu289Phe)	single nucleotide variant	not provided [RCV002663524]	Chr7:101212856 [GRCh38] Chr7:100856137 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.8C>A (p.Ser3Tyr)	single nucleotide variant	not provided [RCV002933141]	Chr7:101217267 [GRCh38] Chr7:100860548 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.674C>A (p.Ala225Asp)	single nucleotide variant	not provided [RCV003042185]	Chr7:101215094 [GRCh38] Chr7:100858375 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1568C>T (p.Thr523Met)	single nucleotide variant	Inborn genetic diseases [RCV003171017]\|not provided [RCV003058724]	Chr7:101210377 [GRCh38] Chr7:100853658 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.993C>G (p.Phe331Leu)	single nucleotide variant	not provided [RCV002957982]	Chr7:101212542 [GRCh38] Chr7:100855823 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.716G>A (p.Arg239His)	single nucleotide variant	not provided [RCV002700468]	Chr7:101213168 [GRCh38] Chr7:100856449 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1858G>T (p.Glu620Ter)	single nucleotide variant	not provided [RCV002894387]	Chr7:101207655 [GRCh38] Chr7:100850936 [GRCh37] Chr7:7q22.1	pathogenic
NM_001084.5(PLOD3):c.1368G>T (p.Trp456Cys)	single nucleotide variant	not provided [RCV002643003]	Chr7:101210664 [GRCh38] Chr7:100853945 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.778-14_778-13insGG	insertion	not provided [RCV002700092]	Chr7:101212956..101212957 [GRCh38] Chr7:100856237..100856238 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.498T>C (p.Ser166=)	single nucleotide variant	PLOD3-related condition [RCV003973421]\|not provided [RCV002575583]	Chr7:101216167 [GRCh38] Chr7:100859448 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1359-12C>T	single nucleotide variant	not provided [RCV002596973]	Chr7:101210685 [GRCh38] Chr7:100853966 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1938G>A (p.Ala646=)	single nucleotide variant	not provided [RCV002626920]	Chr7:101206902 [GRCh38] Chr7:100850183 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.338+5C>G	single nucleotide variant	PLOD3-related condition [RCV003963320]\|not provided [RCV002643427]	Chr7:101216405 [GRCh38] Chr7:100859686 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.1935+1G>A	single nucleotide variant	not provided [RCV002666929]	Chr7:101207577 [GRCh38] Chr7:100850858 [GRCh37] Chr7:7q22.1	likely pathogenic\|uncertain significance
NM_001084.5(PLOD3):c.1936-7C>T	single nucleotide variant	not provided [RCV002800919]	Chr7:101206911 [GRCh38] Chr7:100850192 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1617C>G (p.Asp539Glu)	single nucleotide variant	not provided [RCV002853304]	Chr7:101210159 [GRCh38] Chr7:100853440 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.847A>G (p.Asn283Asp)	single nucleotide variant	Inborn genetic diseases [RCV002698046]\|not provided [RCV003720737]	Chr7:101212874 [GRCh38] Chr7:100856155 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.202-13A>G	single nucleotide variant	not provided [RCV002642859]	Chr7:101216559 [GRCh38] Chr7:100859840 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.879+16C>T	single nucleotide variant	not provided [RCV002642863]	Chr7:101212826 [GRCh38] Chr7:100856107 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.404G>T (p.Arg135Leu)	single nucleotide variant	not provided [RCV002626633]	Chr7:101216261 [GRCh38] Chr7:100859542 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.77A>C (p.Asp26Ala)	single nucleotide variant	Inborn genetic diseases [RCV002675300]	Chr7:101217198 [GRCh38] Chr7:100860479 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.623T>G (p.Leu208Arg)	single nucleotide variant	Inborn genetic diseases [RCV002702702]	Chr7:101215145 [GRCh38] Chr7:100858426 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.719T>C (p.Ile240Thr)	single nucleotide variant	not provided [RCV002938456]	Chr7:101213165 [GRCh38] Chr7:100856446 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1795A>T (p.Arg599Trp)	single nucleotide variant	Inborn genetic diseases [RCV002855224]	Chr7:101207718 [GRCh38] Chr7:100850999 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1683+10C>T	single nucleotide variant	not provided [RCV003086881]	Chr7:101210083 [GRCh38] Chr7:100853364 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.778-21_778-17del	deletion	not provided [RCV002672041]	Chr7:101212960..101212964 [GRCh38] Chr7:100856241..100856245 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.701A>G (p.Asp234Gly)	single nucleotide variant	not provided [RCV002582054]	Chr7:101213183 [GRCh38] Chr7:100856464 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1402C>T (p.Arg468Trp)	single nucleotide variant	not provided [RCV002967360]	Chr7:101210630 [GRCh38] Chr7:100853911 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.590G>A (p.Arg197Gln)	single nucleotide variant	not provided [RCV002745972]	Chr7:101215933 [GRCh38] Chr7:100859214 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.563A>T (p.Asp188Val)	single nucleotide variant	Inborn genetic diseases [RCV002935993]	Chr7:101215960 [GRCh38] Chr7:100859241 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1999CAC[1] (p.His668del)	microsatellite	not provided [RCV003091638]	Chr7:101206836..101206838 [GRCh38] Chr7:100850117..100850119 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1000AAC[1] (p.Asn335del)	microsatellite	not provided [RCV002720889]	Chr7:101212530..101212532 [GRCh38] Chr7:100855811..100855813 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1231A>G (p.Arg411Gly)	single nucleotide variant	not provided [RCV002716615]	Chr7:101211847 [GRCh38] Chr7:100855128 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.565GAC[2] (p.Asp191del)	microsatellite	not provided [RCV002676159]	Chr7:101215950..101215952 [GRCh38] Chr7:100859231..100859233 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.992T>C (p.Phe331Ser)	single nucleotide variant	not provided [RCV002671740]	Chr7:101212543 [GRCh38] Chr7:100855824 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1072A>G (p.Lys358Glu)	single nucleotide variant	Inborn genetic diseases [RCV002714082]	Chr7:101212308 [GRCh38] Chr7:100855589 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.339-7C>T	single nucleotide variant	not provided [RCV002807074]	Chr7:101216333 [GRCh38] Chr7:100859614 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1940G>A (p.Arg647Gln)	single nucleotide variant	Inborn genetic diseases [RCV003250776]\|not provided [RCV002579158]	Chr7:101206900 [GRCh38] Chr7:100850181 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.777+7C>T	single nucleotide variant	not provided [RCV002599998]	Chr7:101213100 [GRCh38] Chr7:100856381 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1127+11G>A	single nucleotide variant	not provided [RCV002715922]	Chr7:101212242 [GRCh38] Chr7:100855523 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1985C>T (p.Pro662Leu)	single nucleotide variant	not provided [RCV002597487]	Chr7:101206855 [GRCh38] Chr7:100850136 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.202-17G>A	single nucleotide variant	not provided [RCV002966338]	Chr7:101216563 [GRCh38] Chr7:100859844 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1200G>A (p.Leu400=)	single nucleotide variant	not provided [RCV002580591]	Chr7:101211878 [GRCh38] Chr7:100855159 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2029G>A (p.Val677Ile)	single nucleotide variant	not provided [RCV002770447]	Chr7:101206811 [GRCh38] Chr7:100850092 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.955C>T (p.Leu319=)	single nucleotide variant	not provided [RCV002877507]	Chr7:101212580 [GRCh38] Chr7:100855861 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2186G>A (p.Arg729His)	single nucleotide variant	not provided [RCV002601418]	Chr7:101206312 [GRCh38] Chr7:100849593 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1152G>A (p.Glu384=)	single nucleotide variant	not provided [RCV002631585]	Chr7:101211926 [GRCh38] Chr7:100855207 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1359-20C>T	single nucleotide variant	not provided [RCV002601447]	Chr7:101210693 [GRCh38] Chr7:100853974 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2047G>A (p.Gly683Ser)	single nucleotide variant	Inborn genetic diseases [RCV002807459]	Chr7:101206793 [GRCh38] Chr7:100850074 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1107C>A (p.Gly369=)	single nucleotide variant	not provided [RCV002671869]	Chr7:101212273 [GRCh38] Chr7:100855554 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.2062-19C>T	single nucleotide variant	not provided [RCV002578231]	Chr7:101206455 [GRCh38] Chr7:100849736 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.616-9T>G	single nucleotide variant	not provided [RCV002895279]	Chr7:101215161 [GRCh38] Chr7:100858442 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.204C>A (p.Thr68=)	single nucleotide variant	not provided [RCV002579063]	Chr7:101216544 [GRCh38] Chr7:100859825 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.727G>A (p.Val243Met)	single nucleotide variant	Inborn genetic diseases [RCV003274191]\|not provided [RCV003065263]	Chr7:101213157 [GRCh38] Chr7:100856438 [GRCh37] Chr7:7q22.1	likely benign\|uncertain significance
NM_001084.5(PLOD3):c.1788+17G>A	single nucleotide variant	not provided [RCV002577150]	Chr7:101208836 [GRCh38] Chr7:100852117 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.503-6C>T	single nucleotide variant	not provided [RCV002627604]	Chr7:101216026 [GRCh38] Chr7:100859307 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.883C>A (p.Pro295Thr)	single nucleotide variant	not provided [RCV003061834]	Chr7:101212652 [GRCh38] Chr7:100855933 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.778-9C>A	single nucleotide variant	not provided [RCV003011388]	Chr7:101212952 [GRCh38] Chr7:100856233 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1614+17C>A	single nucleotide variant	not provided [RCV003029773]	Chr7:101210314 [GRCh38] Chr7:100853595 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.201+15A>G	single nucleotide variant	not provided [RCV002792124]	Chr7:101216680 [GRCh38] Chr7:100859961 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1501-17C>A	single nucleotide variant	not provided [RCV002646343]	Chr7:101210461 [GRCh38] Chr7:100853742 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.244C>A (p.Arg82=)	single nucleotide variant	not provided [RCV002630612]	Chr7:101216504 [GRCh38] Chr7:100859785 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.110-9T>C	single nucleotide variant	not provided [RCV002654179]	Chr7:101216795 [GRCh38] Chr7:100860076 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1602C>T (p.Phe534=)	single nucleotide variant	not provided [RCV002605563]	Chr7:101210343 [GRCh38] Chr7:100853624 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1390G>A (p.Ala464Thr)	single nucleotide variant	not provided [RCV002654914]	Chr7:101210642 [GRCh38] Chr7:100853923 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1319G>A (p.Arg440His)	single nucleotide variant	not provided [RCV002608235]	Chr7:101211630 [GRCh38] Chr7:100854911 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.40C>T (p.Leu14=)	single nucleotide variant	not provided [RCV002585747]	Chr7:101217235 [GRCh38] Chr7:100860516 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.110-18_110-15dup	duplication	not provided [RCV002585754]	Chr7:101216800..101216801 [GRCh38] Chr7:100860081..100860082 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1006-19C>A	single nucleotide variant	not provided [RCV002586646]	Chr7:101212393 [GRCh38] Chr7:100855674 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1935+13C>T	single nucleotide variant	not provided [RCV002604989]	Chr7:101207565 [GRCh38] Chr7:100850846 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.404G>A (p.Arg135His)	single nucleotide variant	Inborn genetic diseases [RCV002678929]	Chr7:101216261 [GRCh38] Chr7:100859542 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1354C>T (p.Arg452Ter)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV003235768]\|PLOD3-related condition [RCV003395591]\|not provided [RCV003093784]	Chr7:101211595 [GRCh38] Chr7:100854876 [GRCh37] Chr7:7q22.1	pathogenic
NM_001084.5(PLOD3):c.300C>T (p.Tyr100=)	single nucleotide variant	not provided [RCV002613086]	Chr7:101216448 [GRCh38] Chr7:100859729 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.353T>C (p.Leu118Pro)	single nucleotide variant	not provided [RCV002609316]	Chr7:101216312 [GRCh38] Chr7:100859593 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1828G>A (p.Val610Met)	single nucleotide variant	not provided [RCV002613331]	Chr7:101207685 [GRCh38] Chr7:100850966 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.44_52dup (p.Leu17_Leu18insProLeuLeu)	duplication	not provided [RCV002585811]	Chr7:101217222..101217223 [GRCh38] Chr7:100860503..100860504 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1381A>C (p.Ile461Leu)	single nucleotide variant	Bone fragility with contractures, arterial rupture, and deafness [RCV003132054]	Chr7:101210651 [GRCh38] Chr7:100853932 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1348C>T (p.Arg450Trp)	single nucleotide variant	Inborn genetic diseases [RCV003192861]	Chr7:101211601 [GRCh38] Chr7:100854882 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.542G>A (p.Arg181His)	single nucleotide variant	Inborn genetic diseases [RCV003183660]	Chr7:101215981 [GRCh38] Chr7:100859262 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1136G>C (p.Cys379Ser)	single nucleotide variant	Inborn genetic diseases [RCV003205324]	Chr7:101211942 [GRCh38] Chr7:100855223 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1900A>G (p.Met634Val)	single nucleotide variant	Inborn genetic diseases [RCV003188583]	Chr7:101207613 [GRCh38] Chr7:100850894 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2096_2097del (p.Val699fs)	microsatellite	not provided [RCV003321390]	Chr7:101206401..101206402 [GRCh38] Chr7:100849682..100849683 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.863C>T (p.Thr288Ile)	single nucleotide variant	Inborn genetic diseases [RCV003379810]	Chr7:101212858 [GRCh38] Chr7:100856139 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.301G>A (p.Ala101Thr)	single nucleotide variant	Inborn genetic diseases [RCV003365815]	Chr7:101216447 [GRCh38] Chr7:100859728 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.979A>T (p.Arg327Trp)	single nucleotide variant	Inborn genetic diseases [RCV003356272]	Chr7:101212556 [GRCh38] Chr7:100855837 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1306G>A (p.Glu436Lys)	single nucleotide variant	Inborn genetic diseases [RCV003365103]	Chr7:101211643 [GRCh38] Chr7:100854924 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1501-12A>G	single nucleotide variant	not provided [RCV003712597]	Chr7:101210456 [GRCh38] Chr7:100853737 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.865del (p.Leu289fs)	deletion	not provided [RCV003543366]	Chr7:101212856 [GRCh38] Chr7:100856137 [GRCh37] Chr7:7q22.1	pathogenic
GRCh37/hg19 7q22.1(chr7:100532371-101116321)x3	copy number gain	not provided [RCV003484692]	Chr7:100532371..101116321 [GRCh37] Chr7:7q22.1	uncertain significance
GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	copy number loss	not provided [RCV003482971]	Chr7:99114000..101878272 [GRCh37] Chr7:7q22.1	pathogenic
NM_001084.5(PLOD3):c.*118G>A	single nucleotide variant	not provided [RCV003442506]	Chr7:101206163 [GRCh38] Chr7:100849444 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1346A>G (p.Gln449Arg)	single nucleotide variant	not provided [RCV003442262]	Chr7:101211603 [GRCh38] Chr7:100854884 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.*109T>G	single nucleotide variant	not provided [RCV003442505]	Chr7:101206172 [GRCh38] Chr7:100849453 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.852G>A (p.Gln284=)	single nucleotide variant	not provided [RCV003849358]	Chr7:101212869 [GRCh38] Chr7:100856150 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1500+11del	deletion	not provided [RCV003661488]	Chr7:101210521 [GRCh38] Chr7:100853802 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.231G>A (p.Gly77=)	single nucleotide variant	not provided [RCV003575654]	Chr7:101216517 [GRCh38] Chr7:100859798 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1452C>G (p.Gly484=)	single nucleotide variant	not provided [RCV003739949]	Chr7:101210580 [GRCh38] Chr7:100853861 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1005+10_1005+11insAG	insertion	not provided [RCV003880925]	Chr7:101212519..101212520 [GRCh38] Chr7:100855800..100855801 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.882T>C (p.Pro294=)	single nucleotide variant	not provided [RCV003687310]	Chr7:101212653 [GRCh38] Chr7:100855934 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.210C>T (p.Gly70=)	single nucleotide variant	not provided [RCV003687193]	Chr7:101216538 [GRCh38] Chr7:100859819 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.201+7A>G	single nucleotide variant	not provided [RCV003881516]	Chr7:101216688 [GRCh38] Chr7:100859969 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1293C>G (p.Ala431=)	single nucleotide variant	not provided [RCV003577507]	Chr7:101211656 [GRCh38] Chr7:100854937 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1912C>T (p.Leu638=)	single nucleotide variant	not provided [RCV003879882]	Chr7:101207601 [GRCh38] Chr7:100850882 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.516T>C (p.Phe172=)	single nucleotide variant	not provided [RCV003714071]	Chr7:101216007 [GRCh38] Chr7:100859288 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.880-17C>G	single nucleotide variant	not provided [RCV003695877]	Chr7:101212672 [GRCh38] Chr7:100855953 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2061+8C>G	single nucleotide variant	not provided [RCV003577296]	Chr7:101206771 [GRCh38] Chr7:100850052 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.387C>T (p.Phe129=)	single nucleotide variant	not provided [RCV003825158]	Chr7:101216278 [GRCh38] Chr7:100859559 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1232+13del	deletion	not provided [RCV003881562]	Chr7:101211833 [GRCh38] Chr7:100855114 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.2157C>A (p.His719Gln)	single nucleotide variant	not provided [RCV003691903]	Chr7:101206341 [GRCh38] Chr7:100849622 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.59del (p.Pro20fs)	deletion	not provided [RCV003575651]	Chr7:101217216 [GRCh38] Chr7:100860497 [GRCh37] Chr7:7q22.1	pathogenic
NM_001084.5(PLOD3):c.1005+9C>T	single nucleotide variant	not provided [RCV003691243]	Chr7:101212521 [GRCh38] Chr7:100855802 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1289dup (p.Ala431fs)	duplication	not provided [RCV003660683]	Chr7:101211659..101211660 [GRCh38] Chr7:100854940..100854941 [GRCh37] Chr7:7q22.1	pathogenic
NM_001084.5(PLOD3):c.721C>T (p.Arg241Trp)	single nucleotide variant	not provided [RCV003824657]	Chr7:101213163 [GRCh38] Chr7:100856444 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.58C>G (p.Pro20Ala)	single nucleotide variant	not provided [RCV003662595]	Chr7:101217217 [GRCh38] Chr7:100860498 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.828G>A (p.Glu276=)	single nucleotide variant	not provided [RCV003832102]	Chr7:101212893 [GRCh38] Chr7:100856174 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1182C>T (p.Asp394=)	single nucleotide variant	not provided [RCV003849845]	Chr7:101211896 [GRCh38] Chr7:100855177 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1500+16C>T	single nucleotide variant	not provided [RCV003832435]	Chr7:101210516 [GRCh38] Chr7:100853797 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2163G>A (p.Gly721=)	single nucleotide variant	not provided [RCV003834593]	Chr7:101206335 [GRCh38] Chr7:100849616 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1563C>T (p.Tyr521=)	single nucleotide variant	not provided [RCV003850152]	Chr7:101210382 [GRCh38] Chr7:100853663 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1920C>T (p.Pro640=)	single nucleotide variant	not provided [RCV003852153]	Chr7:101207593 [GRCh38] Chr7:100850874 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1788+13G>A	single nucleotide variant	not provided [RCV003849781]	Chr7:101208840 [GRCh38] Chr7:100852121 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1188C>T (p.Val396=)	single nucleotide variant	not provided [RCV003849881]	Chr7:101211890 [GRCh38] Chr7:100855171 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2154C>T (p.Tyr718=)	single nucleotide variant	not provided [RCV003849929]	Chr7:101206344 [GRCh38] Chr7:100849625 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.777+9A>G	single nucleotide variant	not provided [RCV003673387]	Chr7:101213098 [GRCh38] Chr7:100856379 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.510C>T (p.Ile170=)	single nucleotide variant	not provided [RCV003717070]	Chr7:101216013 [GRCh38] Chr7:100859294 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.616-32_616-15dup	duplication	not provided [RCV003851182]	Chr7:101215166..101215167 [GRCh38] Chr7:100858447..100858448 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1242C>T (p.Ile414=)	single nucleotide variant	not provided [RCV003855769]	Chr7:101211707 [GRCh38] Chr7:100854988 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.338+8G>T	single nucleotide variant	not provided [RCV003839979]	Chr7:101216402 [GRCh38] Chr7:100859683 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1789-14C>T	single nucleotide variant	not provided [RCV003702790]	Chr7:101207738 [GRCh38] Chr7:100851019 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1992G>A (p.Leu664=)	single nucleotide variant	not provided [RCV003834618]	Chr7:101206848 [GRCh38] Chr7:100850129 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.131_132del (p.Val44fs)	microsatellite	not provided [RCV003702016]	Chr7:101216764..101216765 [GRCh38] Chr7:100860045..100860046 [GRCh37] Chr7:7q22.1	pathogenic
NM_001084.5(PLOD3):c.1077C>T (p.Leu359=)	single nucleotide variant	not provided [RCV003717731]	Chr7:101212303 [GRCh38] Chr7:100855584 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1696G>A (p.Val566Met)	single nucleotide variant	not provided [RCV003667138]	Chr7:101208945 [GRCh38] Chr7:100852226 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1611C>T (p.Pro537=)	single nucleotide variant	not provided [RCV003558882]	Chr7:101210334 [GRCh38] Chr7:100853615 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1684-14C>T	single nucleotide variant	not provided [RCV003671709]	Chr7:101208971 [GRCh38] Chr7:100852252 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.201+7dup	duplication	not provided [RCV003717190]	Chr7:101216687..101216688 [GRCh38] Chr7:100859968..100859969 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.680-20C>G	single nucleotide variant	not provided [RCV003668476]	Chr7:101213224 [GRCh38] Chr7:100856505 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.778-19C>T	single nucleotide variant	not provided [RCV003708356]	Chr7:101212962 [GRCh38] Chr7:100856243 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.777+20C>T	single nucleotide variant	not provided [RCV003843497]	Chr7:101213087 [GRCh38] Chr7:100856368 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1011C>T (p.Val337=)	single nucleotide variant	not provided [RCV003853950]	Chr7:101212369 [GRCh38] Chr7:100855650 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1005+9C>G	single nucleotide variant	not provided [RCV003727138]	Chr7:101212521 [GRCh38] Chr7:100855802 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1127+8G>A	single nucleotide variant	PLOD3-related condition [RCV003956608]\|not provided [RCV003844581]	Chr7:101212245 [GRCh38] Chr7:100855526 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.880-2A>C	single nucleotide variant	not provided [RCV003565240]	Chr7:101212657 [GRCh38] Chr7:100855938 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_001084.5(PLOD3):c.503-12C>T	single nucleotide variant	not provided [RCV003818641]	Chr7:101216032 [GRCh38] Chr7:100859313 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1146C>T (p.Asp382=)	single nucleotide variant	not provided [RCV003563834]	Chr7:101211932 [GRCh38] Chr7:100855213 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.889del (p.Arg297fs)	deletion	not provided [RCV003845983]	Chr7:101212646 [GRCh38] Chr7:100855927 [GRCh37] Chr7:7q22.1	pathogenic
NM_001084.5(PLOD3):c.1232+18C>T	single nucleotide variant	not provided [RCV003674707]	Chr7:101211828 [GRCh38] Chr7:100855109 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.889C>T (p.Arg297Trp)	single nucleotide variant	not provided [RCV003823532]	Chr7:101212646 [GRCh38] Chr7:100855927 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1258C>T (p.Arg420Cys)	single nucleotide variant	not provided [RCV003728485]	Chr7:101211691 [GRCh38] Chr7:100854972 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1209G>T (p.Leu403=)	single nucleotide variant	not provided [RCV003733116]	Chr7:101211869 [GRCh38] Chr7:100855150 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1149C>A (p.Pro383=)	single nucleotide variant	not provided [RCV003710684]	Chr7:101211929 [GRCh38] Chr7:100855210 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1050C>T (p.Leu350=)	single nucleotide variant	not provided [RCV003862835]	Chr7:101212330 [GRCh38] Chr7:100855611 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1936-15C>T	single nucleotide variant	not provided [RCV003707324]	Chr7:101206919 [GRCh38] Chr7:100850200 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1017T>C (p.His339=)	single nucleotide variant	not provided [RCV003681477]	Chr7:101212363 [GRCh38] Chr7:100855644 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1683+9A>T	single nucleotide variant	not provided [RCV003860497]	Chr7:101210084 [GRCh38] Chr7:100853365 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1005+1G>A	single nucleotide variant	not provided [RCV003733242]	Chr7:101212529 [GRCh38] Chr7:100855810 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_001084.5(PLOD3):c.1167C>T (p.Phe389=)	single nucleotide variant	not provided [RCV003680770]	Chr7:101211911 [GRCh38] Chr7:100855192 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2164C>T (p.Leu722=)	single nucleotide variant	not provided [RCV003858772]	Chr7:101206334 [GRCh38] Chr7:100849615 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1777G>A (p.Gly593Ser)	single nucleotide variant	not provided [RCV003732137]	Chr7:101208864 [GRCh38] Chr7:100852145 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.357C>T (p.Ala119=)	single nucleotide variant	not provided [RCV003847186]	Chr7:101216308 [GRCh38] Chr7:100859589 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1005+8T>A	single nucleotide variant	not provided [RCV003727139]	Chr7:101212522 [GRCh38] Chr7:100855803 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.503-2A>G	single nucleotide variant	not provided [RCV003679580]	Chr7:101216022 [GRCh38] Chr7:100859303 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_001084.5(PLOD3):c.1233-11C>T	single nucleotide variant	not provided [RCV003822164]	Chr7:101211727 [GRCh38] Chr7:100855008 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.18T>C (p.Pro6=)	single nucleotide variant	not provided [RCV003819130]	Chr7:101217257 [GRCh38] Chr7:100860538 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1599C>T (p.Ile533=)	single nucleotide variant	not provided [RCV003722033]	Chr7:101210346 [GRCh38] Chr7:100853627 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.478G>A (p.Gly160Arg)	single nucleotide variant	not provided [RCV003678517]	Chr7:101216187 [GRCh38] Chr7:100859468 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.132G>A (p.Val44=)	single nucleotide variant	not provided [RCV003551902]	Chr7:101216764 [GRCh38] Chr7:100860045 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1615-18C>T	single nucleotide variant	not provided [RCV003853167]	Chr7:101210179 [GRCh38] Chr7:100853460 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1797G>C (p.Arg599Ser)	single nucleotide variant	not provided [RCV003556961]	Chr7:101207716 [GRCh38] Chr7:100850997 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.2127C>T (p.Leu709=)	single nucleotide variant	not provided [RCV003868133]	Chr7:101206371 [GRCh38] Chr7:100849652 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1857C>T (p.Tyr619=)	single nucleotide variant	not provided [RCV003869617]	Chr7:101207656 [GRCh38] Chr7:100850937 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.777+8C>G	single nucleotide variant	not provided [RCV003843956]	Chr7:101213099 [GRCh38] Chr7:100856380 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1449G>A (p.Ser483=)	single nucleotide variant	not provided [RCV003556682]	Chr7:101210583 [GRCh38] Chr7:100853864 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.384G>A (p.Lys128=)	single nucleotide variant	not provided [RCV003676430]	Chr7:101216281 [GRCh38] Chr7:100859562 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1614+18G>T	single nucleotide variant	not provided [RCV003683646]	Chr7:101210313 [GRCh38] Chr7:100853594 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1344G>A (p.Val448=)	single nucleotide variant	not provided [RCV003681913]	Chr7:101211605 [GRCh38] Chr7:100854886 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1935+12A>G	single nucleotide variant	not provided [RCV003685894]	Chr7:101207566 [GRCh38] Chr7:100850847 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1566C>T (p.Asp522=)	single nucleotide variant	not provided [RCV003683933]	Chr7:101210379 [GRCh38] Chr7:100853660 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1131C>T (p.Asp377=)	single nucleotide variant	not provided [RCV003868237]	Chr7:101211947 [GRCh38] Chr7:100855228 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.777+14_777+35del	deletion	not provided [RCV003566807]	Chr7:101213072..101213093 [GRCh38] Chr7:100856353..100856374 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1358+19C>T	single nucleotide variant	not provided [RCV003861939]	Chr7:101211572 [GRCh38] Chr7:100854853 [GRCh37] Chr7:7q22.1	likely benign
GRCh37/hg19 7q22.1(chr7:100454649-101886704)x1	copy number loss	not specified [RCV003986697]	Chr7:100454649..101886704 [GRCh37] Chr7:7q22.1	pathogenic
NM_001084.5(PLOD3):c.1809C>T (p.Gly603=)	single nucleotide variant	not provided [RCV003867807]	Chr7:101207704 [GRCh38] Chr7:100850985 [GRCh37] Chr7:7q22.1	likely benign
GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	copy number loss	not specified [RCV003986701]	Chr7:98396469..102108193 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_001084.5(PLOD3):c.485G>T (p.Arg162Leu)	single nucleotide variant	not provided [RCV003862398]	Chr7:101216180 [GRCh38] Chr7:100859461 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.1779C>T (p.Gly593=)	single nucleotide variant	not provided [RCV003848587]	Chr7:101208862 [GRCh38] Chr7:100852143 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1019A>G (p.Glu340Gly)	single nucleotide variant	not provided [RCV003682313]	Chr7:101212361 [GRCh38] Chr7:100855642 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.255T>C (p.Gly85=)	single nucleotide variant	not provided [RCV003710101]	Chr7:101216493 [GRCh38] Chr7:100859774 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.110-19C>T	single nucleotide variant	not provided [RCV003858217]	Chr7:101216805 [GRCh38] Chr7:100860086 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.777+18A>C	single nucleotide variant	not provided [RCV003860941]	Chr7:101213089 [GRCh38] Chr7:100856370 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.938G>A (p.Arg313His)	single nucleotide variant	not provided [RCV003860964]	Chr7:101212597 [GRCh38] Chr7:100855878 [GRCh37] Chr7:7q22.1	uncertain significance
NM_001084.5(PLOD3):c.753G>A (p.Val251=)	single nucleotide variant	not provided [RCV003566143]	Chr7:101213131 [GRCh38] Chr7:100856412 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1006-1_1006delinsCA	indel	not provided [RCV003670677]	Chr7:101212374..101212375 [GRCh38] Chr7:100855655..100855656 [GRCh37] Chr7:7q22.1	likely pathogenic
NM_001084.5(PLOD3):c.2109G>A (p.Pro703=)	single nucleotide variant	not provided [RCV003818314]	Chr7:101206389 [GRCh38] Chr7:100849670 [GRCh37] Chr7:7q22.1	benign
NM_001084.5(PLOD3):c.1113C>G (p.Ala371=)	single nucleotide variant	not provided [RCV003847967]	Chr7:101212267 [GRCh38] Chr7:100855548 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1005+10C>G	single nucleotide variant	not provided [RCV003727137]	Chr7:101212520 [GRCh38] Chr7:100855801 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1854G>A (p.Gly618=)	single nucleotide variant	not provided [RCV003550329]	Chr7:101207659 [GRCh38] Chr7:100850940 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.777+7C>G	single nucleotide variant	not provided [RCV003862994]	Chr7:101213100 [GRCh38] Chr7:100856381 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1467G>A (p.Pro489=)	single nucleotide variant	not provided [RCV003728564]	Chr7:101210565 [GRCh38] Chr7:100853846 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1029C>T (p.Ile343=)	single nucleotide variant	not provided [RCV003734199]	Chr7:101212351 [GRCh38] Chr7:100855632 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.2025C>T (p.Leu675=)	single nucleotide variant	not provided [RCV003858472]	Chr7:101206815 [GRCh38] Chr7:100850096 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.771C>T (p.Pro257=)	single nucleotide variant	not provided [RCV003730998]	Chr7:101213113 [GRCh38] Chr7:100856394 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.352C>T (p.Leu118=)	single nucleotide variant	not provided [RCV003681621]	Chr7:101216313 [GRCh38] Chr7:100859594 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.45G>C (p.Pro15=)	single nucleotide variant	not provided [RCV003681625]	Chr7:101217230 [GRCh38] Chr7:100860511 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1359-12C>G	single nucleotide variant	not provided [RCV003566912]	Chr7:101210685 [GRCh38] Chr7:100853966 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.778-16A>C	single nucleotide variant	not provided [RCV003822588]	Chr7:101212959 [GRCh38] Chr7:100856240 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1127+17G>A	single nucleotide variant	not provided [RCV003863352]	Chr7:101212236 [GRCh38] Chr7:100855517 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1314C>T (p.Tyr438=)	single nucleotide variant	not provided [RCV003861612]	Chr7:101211635 [GRCh38] Chr7:100854916 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1006-9C>T	single nucleotide variant	not provided [RCV003848265]	Chr7:101212383 [GRCh38] Chr7:100855664 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1005+10C>T	single nucleotide variant	not provided [RCV003709722]	Chr7:101212520 [GRCh38] Chr7:100855801 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1860G>A (p.Glu620=)	single nucleotide variant	not provided [RCV003848346]	Chr7:101207653 [GRCh38] Chr7:100850934 [GRCh37] Chr7:7q22.1	likely benign
NM_001084.5(PLOD3):c.1108G>A (p.Glu370Lys)	single nucleotide variant	PLOD3-related condition [RCV003934527]	Chr7:101212272 [GRCh38] Chr7:100855553 [GRCh37] Chr7:7q22.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	4545
Count of miRNA genes:	1073
Interacting mature miRNAs:	1378
Transcripts:	ENST00000223127, ENST00000414785, ENST00000421736, ENST00000424135, ENST00000440925, ENST00000454310, ENST00000456079, ENST00000460132, ENST00000460475, ENST00000463479, ENST00000466881, ENST00000478082, ENST00000478264, ENST00000481461, ENST00000487563, ENST00000489927
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.

Markers in Region

WI-8602

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	100,861,253 - 100,861,361	UniSTS	GRCh37
Build 36	7	100,647,973 - 100,648,081	RGD	NCBI36
Celera	7	95,870,411 - 95,870,519	RGD
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	7	q22	UniSTS
HuRef	7	95,454,470 - 95,454,578	UniSTS
CRA_TCAGchr7v2	7	100,219,640 - 100,219,748	UniSTS
GeneMap99-GB4 RH Map	7	517.11	UniSTS
Whitehead-RH Map	7	487.9	UniSTS

PLOD3_8880

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	100,849,259 - 100,849,694	UniSTS	GRCh37
Build 36	7	100,635,979 - 100,636,414	RGD	NCBI36
Celera	7	95,858,418 - 95,858,853	RGD
HuRef	7	95,442,118 - 95,442,553	UniSTS
CRA_TCAGchr7v2	7	100,207,646 - 100,208,081	UniSTS

A002S06

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	100,849,274 - 100,849,439	UniSTS	GRCh37
Build 36	7	100,635,994 - 100,636,159	RGD	NCBI36
Celera	7	95,858,433 - 95,858,598	RGD
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	7	q22	UniSTS
HuRef	7	95,442,133 - 95,442,298	UniSTS
CRA_TCAGchr7v2	7	100,207,661 - 100,207,826	UniSTS
GeneMap99-GB4 RH Map	7	517.07	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

High

Medium

2429

2467

1667

565

1439

418

3883

1630

2627

381

1438

1605

161

1204

2323

Low

517

509

467

563

1081

465

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_012148	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054359302	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC004876	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF046889	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF068229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF207069	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075338	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297559	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298537	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL049952	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY220458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011674	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC018946	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF941815	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471197	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JC258727	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JC303366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000223127 ⟹ ENSP00000223127

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,205,984 - 101,217,581 (-)	Ensembl

RefSeq Acc Id:

ENST00000414785 ⟹ ENSP00000407551

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,216,163 - 101,217,994 (-)	Ensembl

RefSeq Acc Id:

ENST00000421736 ⟹ ENSP00000407908

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,210,595 - 101,216,020 (-)	Ensembl

RefSeq Acc Id:

ENST00000424135 ⟹ ENSP00000404799

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,212,921 - 101,216,546 (-)	Ensembl

RefSeq Acc Id:

ENST00000440925 ⟹ ENSP00000394045

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,210,128 - 101,211,915 (-)	Ensembl

RefSeq Acc Id:

ENST00000454310 ⟹ ENSP00000407555

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,205,977 - 101,211,672 (-)	Ensembl

RefSeq Acc Id:

ENST00000456079 ⟹ ENSP00000416070

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,216,521 - 101,218,420 (-)	Ensembl

RefSeq Acc Id:

ENST00000460132

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,209,822 - 101,210,655 (-)	Ensembl

RefSeq Acc Id:

ENST00000460475

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,211,635 - 101,212,976 (-)	Ensembl

RefSeq Acc Id:

ENST00000463479

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,211,304 - 101,211,937 (-)	Ensembl

RefSeq Acc Id:

ENST00000466881

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,210,356 - 101,211,103 (-)	Ensembl

RefSeq Acc Id:

ENST00000478082

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,211,564 - 101,217,994 (-)	Ensembl

RefSeq Acc Id:

ENST00000478264

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,212,544 - 101,213,555 (-)	Ensembl

RefSeq Acc Id:

ENST00000481461

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,217,423 - 101,218,366 (-)	Ensembl

RefSeq Acc Id:

ENST00000487563

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,208,593 - 101,210,439 (-)	Ensembl

RefSeq Acc Id:

ENST00000489927

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	101,215,908 - 101,216,842 (-)	Ensembl

RefSeq Acc Id:

NM_001084 ⟹ NP_001075

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	101,205,984 - 101,217,581 (-)	NCBI
GRCh37	7	100,849,258 - 100,861,011 (-)	ENTREZGENE
Build 36	7	100,635,978 - 100,647,731 (-)	NCBI Archive
HuRef	7	95,442,117 - 95,454,228 (-)	ENTREZGENE
CHM1_1	7	100,779,662 - 100,791,414 (-)	NCBI
T2T-CHM13v2.0	7	102,529,447 - 102,541,043 (-)	NCBI
CRA_TCAGchr7v2	7	100,207,645 - 100,219,398 (-)	ENTREZGENE

Sequence:

show sequence

ACATGTGTCAAGCGGCTGGCTCAGCCCAGAGTCCCTGTCTCCCGCCCGCCGGCCCGAGCCGCCG
CCCCTCCCCCGCCTCCCGTGCGCCCGGGACAATCCTCGCCTTGTCTGTGGCGCCGGCATCTGGA
GCTTTCTGTAGCCTCCGGATACGCCTTTTTTTCAGGGCGTAGCCCCAGCCAAGCTGCTCCCCGC
GGCGGCCGCACAGCAGCCCGAGCGCCCCCTTTCCAGAGCTCCCCTCCGGAGCTGGGATCCAGGC
GCGTAGCGGAGATCCCAGGATCCTGGGTGCTGTCTGGGCCCGCTCCCCACCATGACCTCCTCGG
GGCCTGGACCCCGGTTCCTGCTGCTGCTGCCGCTGCTGCTGCCCCCTGCGGCCTCAGCCTCCGA
CCGGCCCCGGGGCCGAGACCCGGTCAACCCAGAGAAGCTGCTGGTGATCACTGTGGCCACAGCT
GAAACCGAGGGGTACCTGCGTTTCCTGCGCTCTGCGGAGTTCTTCAACTACACTGTGCGGACCC
TGGGCCTGGGAGAGGAGTGGCGAGGGGGTGATGTGGCTCGAACAGTTGGTGGAGGACAGAAGGT
CCGGTGGTTAAAGAAGGAAATGGAGAAATACGCTGACCGGGAGGATATGATCATCATGTTTGTG
GATAGCTACGACGTGATTCTGGCCGGCAGCCCCACAGAGCTGCTGAAGAAGTTCGTCCAGAGTG
GCAGCCGCCTGCTCTTCTCTGCAGAGAGCTTCTGCTGGCCCGAGTGGGGGCTGGCGGAGCAGTA
CCCTGAGGTGGGCACGGGGAAGCGCTTCCTCAATTCTGGTGGATTCATCGGTTTTGCCACCACC
ATCCACCAAATCGTGCGCCAGTGGAAGTACAAGGATGATGACGACGACCAGCTGTTCTACACAC
GGCTCTACCTGGACCCAGGACTGAGGGAGAAACTCAGCCTTAATCTGGATCATAAGTCTCGGAT
CTTTCAGAACCTCAACGGGGCTTTAGATGAAGTGGTTTTAAAGTTTGATCGGAACCGTGTGCGT
ATCCGGAACGTGGCCTACGACACGCTCCCCATTGTGGTCCATGGAAACGGTCCCACTAAGCTGC
AGCTCAACTACCTGGGAAACTACGTCCCCAATGGCTGGACTCCTGAGGGAGGCTGTGGCTTCTG
CAACCAGGACCGGAGGACACTCCCGGGGGGGCAGCCTCCCCCCCGGGTGTTTCTGGCCGTGTTT
GTGGAACAGCCTACTCCGTTTCTGCCCCGCTTCCTGCAGCGGCTGCTACTCCTGGACTATCCCC
CCGACAGGGTCACCCTTTTCCTGCACAACAACGAGGTCTTCCATGAACCCCACATCGCTGACTC
CTGGCCGCAGCTCCAGGACCACTTCTCAGCTGTGAAGCTCGTGGGGCCGGAGGAGGCTCTGAGC
CCAGGCGAGGCCAGGGACATGGCCATGGACCTGTGTCGGCAGGACCCCGAGTGTGAGTTCTACT
TCAGCCTGGACGCCGACGCTGTCCTCACCAACCTGCAGACCCTGCGTATCCTCATTGAGGAGAA
CAGGAAGGTGATCGCCCCCATGCTGTCCCGCCACGGCAAGCTGTGGTCCAACTTCTGGGGCGCC
CTGAGCCCCGATGAGTACTACGCCCGCTCCGAGGACTACGTGGAGCTGGTGCAGCGGAAGCGAG
TGGGTGTGTGGAATGTACCATACATCTCCCAGGCCTATGTGATCCGGGGTGATACCCTGCGGAT
GGAGCTGCCCCAGAGGGATGTGTTCTCGGGCAGTGACACAGACCCGGACATGGCCTTCTGTAAG
AGCTTTCGAGACAAGGGCATCTTCCTCCATCTGAGCAATCAGCATGAATTTGGCCGGCTCCTGG
CCACTTCCAGATACGACACGGAGCACCTGCACCCCGACCTCTGGCAGATCTTCGACAACCCCGT
CGACTGGAAGGAGCAGTACATCCACGAGAACTACAGCCGGGCCCTGGAAGGGGAAGGAATCGTG
GAGCAGCCATGCCCGGACGTGTACTGGTTCCCACTGCTGTCAGAACAAATGTGTGATGAGCTGG
TGGCAGAGATGGAGCACTACGGCCAGTGGTCAGGCGGCCGGCATGAGGATTCAAGGCTGGCTGG
AGGCTACGAGAATGTGCCCACCGTGGACATCCACATGAAGCAGGTGGGGTACGAGGACCAGTGG
CTGCAGCTGCTGCGGACGTATGTGGGCCCCATGACCGAGAGCCTGTTTCCCGGTTACCACACCA
AGGCGCGGGCGGTGATGAACTTTGTGGTTCGCTACCGGCCAGACGAGCAGCCGTCTCTGCGGCC
ACACCACGACTCATCCACCTTCACCCTCAACGTTGCCCTCAACCACAAGGGCCTGGACTATGAG
GGAGGTGGCTGCCGCTTCCTGCGCTACGACTGTGTGATCTCCTCCCCGAGGAAGGGCTGGGCAC
TCCTGCACCCCGGCCGCCTCACCCACTACCACGAGGGGCTGCCAACGACCTGGGGCACACGCTA
CATCATGGTGTCCTTTGTCGACCCCTGACACTCAACCACTCTGCCAAACCTGCCCTGCCATTGT
GCCTTTTTAGGGGGCCTGGCCCCCGTCCTGGGAGTTGGGGGATGGGTCTCTCTGTCTCCCCACT
TCCTGAGTTCATGTTCCGCGTGCCTGAACTGAATATGTCACCTTGCTCCCAAGACACGGCCCTC
TCAGGAAGCTCCCGGAGTCCCCGCCTCTCTCCTCCGCCCACAGGGGTTCGTGGGCACAGGGCTT
CTGGGGACTCCCCGCGTGATAAATTATTAATGTTCCGCAGTCTCACTCTGAATAAAGGACAGTT
TGTAA

hide sequence

RefSeq Acc Id:

XM_054359302 ⟹ XP_054215277

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	102,529,447 - 102,541,882 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001075	(Get FASTA)	NCBI Sequence Viewer
	XP_054215277	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC34808	(Get FASTA)	NCBI Sequence Viewer
	AAC39753	(Get FASTA)	NCBI Sequence Viewer
	AAD45831	(Get FASTA)	NCBI Sequence Viewer
	AAF63701	(Get FASTA)	NCBI Sequence Viewer
	AAH11674	(Get FASTA)	NCBI Sequence Viewer
	AAO61775	(Get FASTA)	NCBI Sequence Viewer
	BAG35613	(Get FASTA)	NCBI Sequence Viewer
	BAG52115	(Get FASTA)	NCBI Sequence Viewer
	BAG59952	(Get FASTA)	NCBI Sequence Viewer
	BAG60737	(Get FASTA)	NCBI Sequence Viewer
	CAB43221	(Get FASTA)	NCBI Sequence Viewer
	CDM55391	(Get FASTA)	NCBI Sequence Viewer
	CDM55572	(Get FASTA)	NCBI Sequence Viewer
	EAW50205	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000223127
	ENSP00000223127.3
	ENSP00000394045.1
	ENSP00000404799.1
	ENSP00000407551.1
	ENSP00000407555.1
	ENSP00000407908.1
	ENSP00000416070.1
GenBank Protein	O60568	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001075 ⟸ NM_001084
- Peptide Label:	precursor
- UniProtKB:	B2R6W6 (UniProtKB/Swiss-Prot), Q540C3 (UniProtKB/Swiss-Prot), O60568 (UniProtKB/Swiss-Prot), B3KQQ3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTSSGPGPRFLLLLPLLLPPAASASDRPRGRDPVNPEKLLVITVATAETEGYLRFLRSAEFFNY TVRTLGLGEEWRGGDVARTVGGGQKVRWLKKEMEKYADREDMIIMFVDSYDVILAGSPTELLKK FVQSGSRLLFSAESFCWPEWGLAEQYPEVGTGKRFLNSGGFIGFATTIHQIVRQWKYKDDDDDQ LFYTRLYLDPGLREKLSLNLDHKSRIFQNLNGALDEVVLKFDRNRVRIRNVAYDTLPIVVHGNG PTKLQLNYLGNYVPNGWTPEGGCGFCNQDRRTLPGGQPPPRVFLAVFVEQPTPFLPRFLQRLLL LDYPPDRVTLFLHNNEVFHEPHIADSWPQLQDHFSAVKLVGPEEALSPGEARDMAMDLCRQDPE CEFYFSLDADAVLTNLQTLRILIEENRKVIAPMLSRHGKLWSNFWGALSPDEYYARSEDYVELV QRKRVGVWNVPYISQAYVIRGDTLRMELPQRDVFSGSDTDPDMAFCKSFRDKGIFLHLSNQHEF GRLLATSRYDTEHLHPDLWQIFDNPVDWKEQYIHENYSRALEGEGIVEQPCPDVYWFPLLSEQM CDELVAEMEHYGQWSGGRHEDSRLAGGYENVPTVDIHMKQVGYEDQWLQLLRTYVGPMTESLFP GYHTKARAVMNFVVRYRPDEQPSLRPHHDSSTFTLNVALNHKGLDYEGGGCRFLRYDCVISSPR KGWALLHPGRLTHYHEGLPTTWGTRYIMVSFVDP hide sequence

RefSeq Acc Id:

ENSP00000404799 ⟸ ENST00000424135

RefSeq Acc Id:

ENSP00000407551 ⟸ ENST00000414785

RefSeq Acc Id:

ENSP00000394045 ⟸ ENST00000440925

RefSeq Acc Id:

ENSP00000407555 ⟸ ENST00000454310

RefSeq Acc Id:

ENSP00000416070 ⟸ ENST00000456079

RefSeq Acc Id:

ENSP00000223127 ⟸ ENST00000223127

RefSeq Acc Id:

ENSP00000407908 ⟸ ENST00000421736

RefSeq Acc Id:	XP_054215277 ⟸ XM_054359302
- Peptide Label:	isoform X1
- UniProtKB:	O60568 (UniProtKB/Swiss-Prot), B2R6W6 (UniProtKB/Swiss-Prot), Q540C3 (UniProtKB/Swiss-Prot)

Protein Domains

Fe2OG dioxygenase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O60568-F1-model_v2	AlphaFold	O60568	1-738	view protein structure

Promoters

RGD ID:

6806024

Promoter ID:

HG_KWN:59026

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, K562, Lymphoblastoid, NB4

Transcripts:

NM_001084, OTTHUMT00000347471, OTTHUMT00000347473, OTTHUMT00000347474, OTTHUMT00000347475, OTTHUMT00000347476, OTTHUMT00000347477, OTTHUMT00000347478

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	100,646,836 - 100,648,267 (-)	MPROMDB

RGD ID:

6850768

Promoter ID:

EP73178

Type:

initiation region

Name:

HS_PLOD3

Description:

Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	100,647,580 - 100,647,640	EPD

RGD ID:

7211459

Promoter ID:

EPDNEW_H11475

Type:

initiation region

Name:

PLOD3_2

Description:

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H11476

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	101,217,355 - 101,217,415	EPDNEW

RGD ID:

7211461

Promoter ID:

EPDNEW_H11476

Type:

initiation region

Name:

PLOD3_1

Description:

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H11475

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	101,217,581 - 101,217,641	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:9083	AgrOrtholog
COSMIC	PLOD3	COSMIC
Ensembl Genes	ENSG00000106397	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000223127	ENTREZGENE
	ENST00000223127.8	UniProtKB/Swiss-Prot
	ENST00000414785.5	UniProtKB/TrEMBL
	ENST00000421736.1	UniProtKB/TrEMBL
	ENST00000424135.5	UniProtKB/TrEMBL
	ENST00000440925.1	UniProtKB/TrEMBL
	ENST00000454310.5	UniProtKB/TrEMBL
	ENST00000456079.1	UniProtKB/TrEMBL
Gene3D-CATH	q2cbj1_9rhob like domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000106397	GTEx
HGNC ID	HGNC:9083	ENTREZGENE
Human Proteome Map	PLOD3	Human Proteome Map
InterPro	IPNS-like_FE2OG_OXY	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Nucleotide-diphossugar_trans	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Oxoglu/Fe-dep_dioxygenase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Pro_4_hyd_alph	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Procol_lys_dOase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:8985	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	8985	ENTREZGENE
OMIM	603066	OMIM
PANTHER	MULTIFUNCTIONAL PROCOLLAGEN LYSINE HYDROXYLASE AND GLYCOSYLTRANSFERASE LH3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROCOLLAGEN-LYSINE,2-OXOGLUTARATE 5-DIOXYGENASE/GLYCOSYLTRANSFERASE 25 FAMILY MEMBER	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	2OG-FeII_Oxy	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA33413	PharmGKB
PROSITE	FE2OG_OXY	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LYS_HYDROXYLASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	P4Hc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Nucleotide-diphospho-sugar transferases	UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt	B2R6W6	ENTREZGENE
	B3KQQ3	ENTREZGENE, UniProtKB/TrEMBL
	C9JIX5_HUMAN	UniProtKB/TrEMBL
	C9JU11_HUMAN	UniProtKB/TrEMBL
	H7C0B8_HUMAN	UniProtKB/TrEMBL
	H7C2A8_HUMAN	UniProtKB/TrEMBL
	H7C2S8_HUMAN	UniProtKB/TrEMBL
	H7C2V1_HUMAN	UniProtKB/TrEMBL
	O60568	ENTREZGENE, UniProtKB/Swiss-Prot
	Q540C3	ENTREZGENE
	Q9UG85_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	B2R6W6	UniProtKB/Swiss-Prot
	Q540C3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-04-12	PLOD3	procollagen-lysine,2-oxoglutarate 5-dioxygenase 3	PLOD3	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Symbol and/or name change	5135510	APPROVED

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

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 - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar