COL10A1 (collagen type X alpha 1 chain)

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Gene: COL10A1 (collagen type X alpha 1 chain) Homo sapiens

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Symbol:

COL10A1

Name:

collagen type X alpha 1 chain

RGD ID:

735281

HGNC Page

HGNC:2185

Description:

An extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in extracellular matrix organization. Part of collagen type X trimer. Implicated in Schmid metaphyseal chondrodysplasia and osteochondrodysplasia. Biomarker of lung adenocarcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

collagen alpha-1(X) chain; collagen type X alpha 1; collagen X, alpha-1 polypeptide; collagen, type X, alpha 1; collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia); procollagen, type x, alpha 1; Schmid metaphyseal chondrodysplasia

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	116,118,909 - 116,217,144 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	116,118,909 - 116,158,747 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	116,440,072 - 116,538,307 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	116,546,778 - 116,553,989 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	116,546,813 - 116,553,989	NCBI
Celera	6	117,183,107 - 117,190,321 (-)	NCBI		Celera
Cytogenetic Map	6	q22.1	NCBI
HuRef	6	114,020,279 - 114,027,493 (-)	NCBI		HuRef
CHM1_1	6	116,703,904 - 116,711,118 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	117,302,889 - 117,401,128 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

body dysmorphic disorder (IAGP)

congenital disorder of glycosylation Iaa (IAGP)

degenerative disc disease (ISO)

genetic disease (IAGP)

lung adenocarcinoma (HEP,IEP)

lung metastasis (IMP)

Metaphyseal Chondrodysplasia (IAGP)

Osteoarthritis, Hip (ISO)

osteochondrodysplasia (IAGP)

Schmid metaphyseal chondrodysplasia (EXP,IAGP,ISS)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (EXP)

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

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

2,4,6-tribromophenol (EXP)

2-hydroxypropanoic acid (EXP)

2-palmitoylglycerol (EXP)

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

3,3',5-triiodo-L-thyronine (ISO)

4,4'-sulfonyldiphenol (ISO)

4-phenylbutyric acid (ISO)

5-aza-2'-deoxycytidine (ISO)

6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide (ISO)

acrylamide (ISO)

alginic acid (EXP)

all-trans-retinoic acid (ISO)

aluminium oxide (EXP)

ammonium chloride (ISO)

benzo[a]pyrene (ISO)

berberine (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

buta-1,3-diene (ISO)

Butylparaben (ISO)

C60 fullerene (ISO)

celecoxib (ISO)

ciglitazone (ISO)

cycloheximide (ISO)

decabromodiphenyl ether (EXP)

dexamethasone (EXP)

doxorubicin (ISO)

entinostat (ISO)

ethanol (ISO)

fenvalerate (ISO)

fulvestrant (EXP)

gentamycin (ISO)

kaempferol (ISO)

L-ascorbic acid (ISO)

linalool (ISO)

lipopolysaccharide (EXP,ISO)

methamphetamine (ISO)

methylparaben (ISO)

Mofezolac (TN) (ISO)

montelukast (ISO)

NS-398 (ISO)

Octicizer (ISO)

prostaglandin E2 (ISO)

prostaglandin F2alpha (ISO)

rac-lactic acid (EXP)

raloxifene (ISO)

resveratrol (EXP,ISO)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

silicon dioxide (EXP)

sirtinol (ISO)

T-2 toxin (ISO)

thromboxane A2 (ISO)

tributyl phosphate (ISO)

triphenyl phosphate (ISO)

tris(2-butoxyethyl) phosphate (ISO)

tris(2-chloroethyl) phosphate (ISO)

troglitazone (ISO)

valproic acid (ISO)

zileuton (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cartilage development (ISO)

endochondral ossification (ISO)

extracellular matrix organization (IBA)

skeletal system development (TAS)

Cellular Component

cell cortex (ISO)

collagen trimer (IEA,TAS)

collagen type X trimer (IPI)

collagen-containing extracellular matrix (EXP,HDA,IBA,ISO)

endoplasmic reticulum lumen (TAS)

extracellular matrix (ISO)

extracellular region (IEA,TAS)

extracellular space (IBA)

Molecular Function

extracellular matrix structural constituent conferring tensile strength (HDA,IBA,RCA)

metal ion binding (IEA)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

syndecan signaling pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal distal femoral metaphysis morphology (IAGP)

Abnormal hand metaphysis morphology (IAGP)

Abnormal proximal femoral metaphysis morphology (IAGP)

Abnormal vertebral morphology (IAGP)

Anterior rib cupping (IAGP)

Arthralgia (IAGP)

Autosomal dominant inheritance (IAGP)

Bowing of the legs (IAGP)

Broad femoral neck (IAGP)

Broad middle phalanx of finger (IAGP)

Broad proximal phalanges of the hand (IAGP)

Childhood onset (IAGP)

Coxa vara (IAGP)

Delayed speech and language development (IAGP)

Disproportionate short-limb short stature (IAGP)

Distal femoral metaphyseal irregularity (IAGP)

Distal tibial bowing (IAGP)

Enlargement of the proximal femoral epiphysis (IAGP)

Femoral bowing (IAGP)

Flared metaphysis (IAGP)

Genu valgum (IAGP)

Genu varum (IAGP)

Hip dysplasia (IAGP)

Hypotonia (IAGP)

Irregular acetabular roof (IAGP)

Irregular vertebral endplates (IAGP)

Limb undergrowth (IAGP)

Lumbar hyperlordosis (IAGP)

Metaphyseal chondrodysplasia (IAGP)

Metaphyseal cupping (IAGP)

Metaphyseal cupping of metacarpals (IAGP)

Metaphyseal cupping of proximal phalanges (IAGP)

Metaphyseal irregularity (IAGP)

Metaphyseal sclerosis (IAGP)

Metaphyseal widening (IAGP)

Mild short stature (IAGP)

Obesity (IAGP)

Osteosclerosis of ribs (IAGP)

Platyspondyly (IAGP)

Proportionate short stature (IAGP)

Proximal femoral metaphyseal irregularity (IAGP)

Radial metaphyseal irregularity (IAGP)

Scoliosis (IAGP)

Short distal phalanx of finger (IAGP)

Short long bone (IAGP)

Short middle phalanx of finger (IAGP)

Short stature (IAGP)

Short tubular bones of the hand (IAGP)

Thick growth plates (IAGP)

Ulnar metaphyseal irregularity (IAGP)

Waddling gait (IAGP)

Widened proximal tibial metaphyses (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Early cartilage degeneration in a rat experimental model of developmental dysplasia of the hip.	Bo N, etal., Connect Tissue Res. 2012;53(6):513-20. doi: 10.3109/03008207.2012.700346. Epub 2012 Jul 20.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	Prolonged upright posture induces degenerative changes in intervertebral discs of rat cervical spine.	Liang QQ, etal., Spine (Phila Pa 1976). 2011 Jan 1;36(1):E14-9. doi: 10.1097/BRS.0b013e3181d2dec2.
4.	Upregulated Collagen COL10A1 Remodels the Extracellular Matrix and Promotes Malignant Progression in Lung Adenocarcinoma.	Liang Y, etal., Front Oncol. 2020 Nov 26;10:573534. doi: 10.3389/fonc.2020.573534. eCollection 2020.
5.	Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.	McIntosh I, etal., Hum Mol Genet. 1994 Feb;3(2):303-7.
6.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
7.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
10.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:1397263	PMID:1397333	PMID:1587271	PMID:1743401	PMID:1764025	PMID:2037056	PMID:7607655	PMID:7749409	PMID:7876225	PMID:8012364	PMID:8220429	PMID:8304336
PMID:8554571	PMID:8782043	PMID:8986632	PMID:9049979	PMID:9067753	PMID:9101290	PMID:9525992	PMID:9837818	PMID:9852679	PMID:10436013	PMID:10991694	PMID:11115494
PMID:11805116	PMID:11839302	PMID:12477932	PMID:12554676	PMID:14574404	PMID:15464363	PMID:15695517	PMID:15880705	PMID:16598786	PMID:16806867	PMID:17009260	PMID:17072841
PMID:17335825	PMID:17876790	PMID:18553549	PMID:18759285	PMID:19116917	PMID:19180518	PMID:20073986	PMID:20225218	PMID:20569194	PMID:20872587	PMID:21360259	PMID:21447328
PMID:21665990	PMID:21873635	PMID:22015197	PMID:22894674	PMID:23455636	PMID:25037231	PMID:25245039	PMID:25416956	PMID:25542771	PMID:25900982	PMID:25974987	PMID:27090210
PMID:28344315	PMID:28514442	PMID:28830906	PMID:29234170	PMID:29913199	PMID:30010889	PMID:30209734	PMID:30227835	PMID:30442874	PMID:31275967	PMID:31633898	PMID:31856751
PMID:32043519	PMID:32096148	PMID:32296183	PMID:32326527	PMID:32344180	PMID:33303006	PMID:33371777	PMID:33636111	PMID:33637669	PMID:33961781	PMID:34423584	PMID:34520774
PMID:35181619	PMID:35929139	PMID:36105715	PMID:36400164	PMID:36543142	PMID:36724073	PMID:37585671	PMID:37974070	PMID:38147021	PMID:38780151	PMID:39198393	PMID:39247832

Genomics

Comparative Map Data

COL10A1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	116,118,909 - 116,217,144 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	116,118,909 - 116,158,747 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	116,440,072 - 116,538,307 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	116,546,778 - 116,553,989 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	116,546,813 - 116,553,989	NCBI
Celera	6	117,183,107 - 117,190,321 (-)	NCBI		Celera
Cytogenetic Map	6	q22.1	NCBI
HuRef	6	114,020,279 - 114,027,493 (-)	NCBI		HuRef
CHM1_1	6	116,703,904 - 116,711,118 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	117,302,889 - 117,401,128 (-)	NCBI		T2T-CHM13v2.0

Col10a1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	34,265,977 - 34,273,081 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	34,265,977 - 34,273,081 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	34,389,981 - 34,397,085 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	34,389,981 - 34,397,085 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	34,109,787 - 34,116,891 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	34,079,251 - 34,087,720 (+)	NCBI		MGSCv36	mm8
Celera	10	35,298,560 - 35,305,664 (+)	NCBI		Celera
Cytogenetic Map	10	B1	NCBI
cM Map	10	18.85	NCBI

Col10a1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	39,737,536 - 39,744,518 (+)	NCBI		GRCr8
mRatBN7.2	20	38,183,103 - 38,189,488 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	38,182,494 - 38,189,494 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	20	41,180,295 - 41,190,664 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	41,184,287 - 41,189,633 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	42,909,408 - 42,919,566 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	38,725,164 - 38,731,513 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	38,752,633 - 38,754,523 (+)	NCBI
Celera	20	38,959,927 - 38,970,291 (+)	NCBI		Celera
RH 3.4 Map	20	408.35	RGD
Cytogenetic Map	20	q12	NCBI

Col10a1
(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	NW_004955526	641,577 - 679,295 (+)	NCBI	ChiLan1.0	ChiLan1.0

COL10A1
(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	5	136,127,283 - 136,174,508 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	134,020,364 - 134,026,855 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	113,921,538 - 113,961,490 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	118,067,477 - 118,074,684 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	118,067,477 - 118,074,684 (-)	Ensembl	panpan1.1		panPan2

COL10A1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	12	71,803,372 - 71,810,049 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	12	71,798,692 - 71,809,399 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	12	71,564,697 - 71,571,376 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	12	72,686,150 - 72,692,813 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	12	72,686,480 - 72,692,182 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	12	72,038,103 - 72,044,761 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	12	71,879,881 - 71,886,556 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	12	72,268,767 - 72,275,438 (-)	NCBI		UU_Cfam_GSD_1.0

Col10a1
(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_024404946	107,009,485 - 107,017,306 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936824	734,488 - 769,010 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936824	734,499 - 741,674 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

COL10A1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	81,765,859 - 81,773,818 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	81,766,829 - 81,773,818 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	91,881,410 - 91,889,388 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

COL10A1
(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	13	57,657,310 - 57,697,955 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	13	57,691,409 - 57,696,783 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666040	29,980,950 - 30,021,212 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Col10a1
(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_004624856	2,335,986 - 2,372,848 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624856	2,366,524 - 2,372,928 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in COL10A1
376 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000493.4(COL10A1):c.1989C>G (p.Tyr663Ter)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000022472]	Chr6:116120127 [GRCh38] Chr6:116441290 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.1857_1869del (p.Val621fs)	deletion	Metaphyseal chondrodysplasia, Schmid type [RCV000019016]	Chr6:116120247..116120259 [GRCh38] Chr6:116441410..116441422 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.1792T>G (p.Tyr598Asp)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000019017]\|not provided [RCV001851928]	Chr6:116120324 [GRCh38] Chr6:116441487 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.1841T>C (p.Leu614Pro)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000019018]	Chr6:116120275 [GRCh38] Chr6:116441438 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.1771T>C (p.Cys591Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000019019]\|not provided [RCV001851929]	Chr6:116120345 [GRCh38] Chr6:116441508 [GRCh37] Chr6:6q22.1	pathogenic\|likely pathogenic
NM_000493.4(COL10A1):c.1859del (p.Pro620fs)	deletion	Metaphyseal chondrodysplasia, Schmid type [RCV000019020]	Chr6:116120257 [GRCh38] Chr6:116441420 [GRCh37] Chr6:6q22.1	pathogenic
COL10A1, 2-BP DEL, FS665TER	deletion	Metaphyseal chondrodysplasia, Schmid type [RCV000019021]	Chr6:6q21-q22.3	pathogenic
COL10A1, 10-BP DEL, NT1867	deletion	Metaphyseal chondrodysplasia, Schmid type [RCV000019022]	Chr6:6q21-q22.3	pathogenic
NM_000493.4(COL10A1):c.1858_1859del (p.Pro620fs)	deletion	Metaphyseal chondrodysplasia, Schmid type [RCV000019023]	Chr6:116120257..116120258 [GRCh38] Chr6:116441420..116441421 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.1884C>G (p.Tyr628Ter)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000019024]	Chr6:116120232 [GRCh38] Chr6:116441395 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.1953G>A (p.Trp651Ter)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000019025]	Chr6:116120163 [GRCh38] Chr6:116441326 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.1951T>C (p.Trp651Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000019026]\|not provided [RCV002513115]	Chr6:116120165 [GRCh38] Chr6:116441328 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.52G>A (p.Gly18Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000019027]	Chr6:116125441 [GRCh38] Chr6:116446604 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.53G>A (p.Gly18Glu)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000019028]\|not provided [RCV001378530]	Chr6:116125440 [GRCh38] Chr6:116446603 [GRCh37] Chr6:6q22.1	pathogenic\|likely pathogenic
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000019029]\|not provided [RCV001385329]	Chr6:116120105 [GRCh38] Chr6:116441268 [GRCh37] Chr6:6q22.1	pathogenic\|likely pathogenic
NM_000493.4(COL10A1):c.1896C>A (p.Tyr632Ter)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000019030]\|not provided [RCV001851930]	Chr6:116120220 [GRCh38] Chr6:116441383 [GRCh37] Chr6:6q22.1	pathogenic\|likely pathogenic
NM_000493.4(COL10A1):c.1784G>A (p.Gly595Glu)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000019031]\|not provided [RCV001851931]	Chr6:116120332 [GRCh38] Chr6:116441495 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.1790A>G (p.Tyr597Cys)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000019032]	Chr6:116120326 [GRCh38] Chr6:116441489 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.1798T>C (p.Ser600Pro)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000019033]\|not provided [RCV001851932]	Chr6:116120318 [GRCh38] Chr6:116441481 [GRCh37] Chr6:6q22.1	pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.1832G>A (p.Trp611Ter)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000019034]\|not provided [RCV003556046]	Chr6:116120284 [GRCh38] Chr6:116441447 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.1796T>C (p.Phe599Ser)	single nucleotide variant	not provided [RCV000521047]	Chr6:116120320 [GRCh38] Chr6:116441483 [GRCh37] Chr6:6q22.1	likely pathogenic
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	copy number loss	See cases [RCV000051196]	Chr6:108944899..132067720 [GRCh38] Chr6:109266102..132388860 [GRCh37] Chr6:109372795..132430553 [NCBI36] Chr6:6q21-23.2	pathogenic
GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1	copy number loss	See cases [RCV000052195]	Chr6:115220054..117196371 [GRCh38] Chr6:115541218..117517534 [GRCh37] Chr6:115647911..117624227 [NCBI36] Chr6:6q22.1	pathogenic
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	copy number loss	See cases [RCV000052196]	Chr6:115601230..128514324 [GRCh38] Chr6:115922394..128835469 [GRCh37] Chr6:116029087..128877162 [NCBI36] Chr6:6q22.1-22.33	pathogenic
GRCh38/hg38 6q22.1(chr6:115532759-116166844)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053367]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053367]\|See cases [RCV000053367]	Chr6:115532759..116166844 [GRCh38] Chr6:115853923..116488007 [GRCh37] Chr6:115960616..116594700 [NCBI36] Chr6:6q22.1	uncertain significance
GRCh38/hg38 6q22.1(chr6:115890731-116427566)x3	copy number gain	See cases [RCV000053368]	Chr6:115890731..116427566 [GRCh38] Chr6:116211895..116748729 [GRCh37] Chr6:116318588..116855422 [NCBI36] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1049G>A (p.Gly350Asp)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000662034]	Chr6:116121067 [GRCh38] Chr6:116442230 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.23T>G (p.Leu8Trp)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000263033]\|not provided [RCV000904567]\|not specified [RCV000175613]	Chr6:116125470 [GRCh38] Chr6:116446633 [GRCh37] Chr6:6q22.1	benign\|likely benign
GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	copy number loss	See cases [RCV000135623]	Chr6:115326962..117935240 [GRCh38] Chr6:115648126..118256403 [GRCh37] Chr6:115754819..118363096 [NCBI36] Chr6:6q22.1-22.2	likely pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	copy number gain	See cases [RCV000139729]	Chr6:74382807..142040500 [GRCh38] Chr6:75092523..142361637 [GRCh37] Chr6:75149243..142403330 [NCBI36] Chr6:6q13-24.1	pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	copy number loss	See cases [RCV000139465]	Chr6:96609994..122161548 [GRCh38] Chr6:97057870..122482694 [GRCh37] Chr6:97164591..122524393 [NCBI36] Chr6:6q16.1-22.31	pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	copy number loss	See cases [RCV000141587]	Chr6:106503719..125781219 [GRCh38] Chr6:106951594..126102365 [GRCh37] Chr6:107058287..126144058 [NCBI36] Chr6:6q21-22.31	pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	copy number loss	See cases [RCV000143227]	Chr6:100054889..120488154 [GRCh38] Chr6:100502765..120809300 [GRCh37] Chr6:100609486..120850999 [NCBI36] Chr6:6q16.3-22.31	pathogenic
NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del	deletion	Dysmorphic features [RCV000157073]	Chr6:112511752..118037595 [GRCh37] Chr6:6q21-22.1	pathogenic
NM_000493.4(COL10A1):c.155-611A>T	single nucleotide variant	not provided [RCV000190301]	Chr6:116122572 [GRCh38] Chr6:116443735 [GRCh37] Chr6:6q22.1	not provided
NM_000493.4(COL10A1):c.*1042A>G	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000285957]	Chr6:116119031 [GRCh38] Chr6:116440194 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.593G>A (p.Arg198His)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000279192]\|not provided [RCV000435510]	Chr6:116121523 [GRCh38] Chr6:116442686 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.*13del	deletion	Metaphyseal chondrodysplasia [RCV000282251]	Chr6:116120060 [GRCh38] Chr6:116441223 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.6_7insCCC	insertion	Metaphyseal chondrodysplasia [RCV000334905]\|Metaphyseal chondrodysplasia, Schmid type [RCV000987761]\|not provided [RCV001618385]\|not specified [RCV000253843]	Chr6:116120066..116120067 [GRCh38] Chr6:116441229..116441230 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.1633G>C (p.Gly545Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000987763]\|not provided [RCV001515714]\|not specified [RCV000244205]	Chr6:116120483 [GRCh38] Chr6:116441646 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.1809G>C (p.Val603=)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000352553]\|not provided [RCV001517052]\|not specified [RCV000249162]	Chr6:116120307 [GRCh38] Chr6:116441470 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.80T>C (p.Met27Thr)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000987764]\|not provided [RCV001515715]\|not specified [RCV000254143]	Chr6:116125413 [GRCh38] Chr6:116446576 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.1851T>C (p.Asn617=)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000314043]\|not provided [RCV000904566]	Chr6:116120265 [GRCh38] Chr6:116441428 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.*157A>G	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000374473]	Chr6:116119916 [GRCh38] Chr6:116441079 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.*1025C>T	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000398592]	Chr6:116119048 [GRCh38] Chr6:116440211 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.155-6T>C	single nucleotide variant	Metaphyseal chondrodysplasia [RCV000399094]\|not provided [RCV001479589]	Chr6:116121967 [GRCh38] Chr6:116443130 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.-16+7G>A	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000315935]	Chr6:116126046 [GRCh38] Chr6:116447209 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*553del	deletion	Metaphyseal chondrodysplasia [RCV000354499]	Chr6:116119520 [GRCh38] Chr6:116440683 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.212G>A (p.Arg71Gln)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000347743]	Chr6:116121904 [GRCh38] Chr6:116443067 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*291C>T	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000378660]	Chr6:116119782 [GRCh38] Chr6:116440945 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.273A>G (p.Gln91=)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000400752]\|not provided [RCV002058553]	Chr6:116121843 [GRCh38] Chr6:116443006 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.71G>A (p.Arg24Gln)	single nucleotide variant	Inborn genetic diseases [RCV002524464]\|Metaphyseal chondrodysplasia, Schmid type [RCV000302402]\|not provided [RCV002520395]	Chr6:116125422 [GRCh38] Chr6:116446585 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*833T>C	single nucleotide variant	Metaphyseal chondrodysplasia [RCV000303037]	Chr6:116119240 [GRCh38] Chr6:116440403 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1073C>T (p.Pro358Leu)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000357555]\|not provided [RCV002524463]	Chr6:116121043 [GRCh38] Chr6:116442206 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*315A>T	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000326407]	Chr6:116119758 [GRCh38] Chr6:116440921 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.382G>A (p.Asp128Asn)	single nucleotide variant	COL10A1-related disorder [RCV003922568]\|Metaphyseal chondrodysplasia, Schmid type [RCV000349200]\|not provided [RCV000951265]	Chr6:116121734 [GRCh38] Chr6:116442897 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.*246T>C	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000286647]\|not provided [RCV001568099]	Chr6:116119827 [GRCh38] Chr6:116440990 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.773G>A (p.Arg258Gln)	single nucleotide variant	Inborn genetic diseases [RCV002520393]\|Metaphyseal chondrodysplasia, Schmid type [RCV000319025]\|not provided [RCV001407348]	Chr6:116121343 [GRCh38] Chr6:116442506 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.1328G>A (p.Gly443Asp)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000307196]	Chr6:116120788 [GRCh38] Chr6:116441951 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.*318A>T	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000327807]	Chr6:116119755 [GRCh38] Chr6:116440918 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*196T>C	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000339362]	Chr6:116119877 [GRCh38] Chr6:116441040 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.256G>A (p.Gly86Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000290482]\|not provided [RCV000890309]	Chr6:116121860 [GRCh38] Chr6:116443023 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.154+13G>C	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000308063]\|not provided [RCV002058554]	Chr6:116125326 [GRCh38] Chr6:116446489 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.1147G>A (p.Gly383Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000323823]\|not provided [RCV002058552]	Chr6:116120969 [GRCh38] Chr6:116442132 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.1255G>A (p.Gly419Ser)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000364232]	Chr6:116120861 [GRCh38] Chr6:116442024 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*1106G>A	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000382693]	Chr6:116118967 [GRCh38] Chr6:116440130 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.456T>C (p.Ile152=)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000388560]	Chr6:116121660 [GRCh38] Chr6:116442823 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.1611C>T (p.Thr537=)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000312909]\|not provided [RCV000924887]	Chr6:116120505 [GRCh38] Chr6:116441668 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.43T>G (p.Leu15Val)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000359455]\|not provided [RCV000970841]	Chr6:116125450 [GRCh38] Chr6:116446613 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.*317T>A	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000384598]	Chr6:116119756 [GRCh38] Chr6:116440919 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.1350T>C (p.Thr450=)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000407151]\|not provided [RCV002058551]	Chr6:116120766 [GRCh38] Chr6:116441929 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.2038A>G (p.Met680Val)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000390403]\|not provided [RCV001565998]	Chr6:116120078 [GRCh38] Chr6:116441241 [GRCh37] Chr6:6q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000493.4(COL10A1):c.*416G>A	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000314478]	Chr6:116119657 [GRCh38] Chr6:116440820 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.*790T>G	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000336894]	Chr6:116119283 [GRCh38] Chr6:116440446 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.150T>A (p.Ser50Arg)	single nucleotide variant	COL10A1-related disorder [RCV003932465]\|Metaphyseal chondrodysplasia, Schmid type [RCV000360621]\|not provided [RCV000880125]\|not specified [RCV000593352]	Chr6:116125343 [GRCh38] Chr6:116446506 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.*653T>C	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000297255]	Chr6:116119420 [GRCh38] Chr6:116440583 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.430C>T (p.Pro144Ser)	single nucleotide variant	Inborn genetic diseases [RCV002520394]\|Metaphyseal chondrodysplasia, Schmid type [RCV000296606]\|not provided [RCV001850878]	Chr6:116121686 [GRCh38] Chr6:116442849 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.982G>A (p.Ala328Thr)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000265148]	Chr6:116121134 [GRCh38] Chr6:116442297 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1181C>G (p.Pro394Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000266410]\|not provided [RCV000888513]	Chr6:116120935 [GRCh38] Chr6:116442098 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.*1026G>A	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000343136]	Chr6:116119047 [GRCh38] Chr6:116440210 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.*315dup	duplication	Metaphyseal chondrodysplasia [RCV000269172]	Chr6:116119757..116119758 [GRCh38] Chr6:116440920..116440921 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1392G>A (p.Gly464=)	single nucleotide variant	not provided [RCV000306667]	Chr6:116120724 [GRCh38] Chr6:116441887 [GRCh37] Chr6:6q22.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_000493.4(COL10A1):c.308C>G (p.Ser103Ter)	single nucleotide variant	not provided [RCV000307939]	Chr6:116121808 [GRCh38] Chr6:116442971 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.70C>T (p.Arg24Ter)	single nucleotide variant	not provided [RCV000384351]	Chr6:116125423 [GRCh38] Chr6:116446586 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*328del	deletion	Metaphyseal chondrodysplasia [RCV000275005]	Chr6:116119745 [GRCh38] Chr6:116440908 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*328dup	duplication	Metaphyseal chondrodysplasia [RCV000366741]	Chr6:116119744..116119745 [GRCh38] Chr6:116440907..116440908 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*511T>C	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000275754]	Chr6:116119562 [GRCh38] Chr6:116440725 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1016C>T (p.Pro339Leu)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001156889]\|not provided [RCV000357763]	Chr6:116121100 [GRCh38] Chr6:116442263 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.720G>A (p.Pro240=)	single nucleotide variant	not provided [RCV000299394]	Chr6:116121396 [GRCh38] Chr6:116442559 [GRCh37] Chr6:6q22.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_000493.4(COL10A1):c.963C>T (p.Ala321=)	single nucleotide variant	not provided [RCV000597759]	Chr6:116121153 [GRCh38] Chr6:116442316 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q21-22.1(chr6:114318401-116957002)x3	copy number gain	not provided [RCV000487884]	Chr6:114318401..116957002 [GRCh37] Chr6:6q21-22.1	uncertain significance
NM_000493.4(COL10A1):c.1420C>T (p.Pro474Ser)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000365338]	Chr6:116120696 [GRCh38] Chr6:116441859 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.460G>A (p.Val154Met)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000317865]\|not provided [RCV001597117]	Chr6:116121656 [GRCh38] Chr6:116442819 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*674A>G	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000392739]	Chr6:116119399 [GRCh38] Chr6:116440562 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.633A>G (p.Thr211=)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000376026]\|not provided [RCV002061303]	Chr6:116121483 [GRCh38] Chr6:116442646 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.19T>C (p.Phe7Leu)	single nucleotide variant	not provided [RCV000521250]	Chr6:116125474 [GRCh38] Chr6:116446637 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.2039T>C (p.Met680Thr)	single nucleotide variant	not provided [RCV000733655]	Chr6:116120077 [GRCh38] Chr6:116441240 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1927G>A (p.Asp643Asn)	single nucleotide variant	Inborn genetic diseases [RCV004027070]\|not provided [RCV000733687]	Chr6:116120189 [GRCh38] Chr6:116441352 [GRCh37] Chr6:6q22.1	conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1	copy number loss	See cases [RCV000445666]	Chr6:85988428..120548687 [GRCh37] Chr6:6q14.3-22.31	pathogenic
GRCh37/hg19 6q22.1(chr6:116409181-116488289)x1	copy number loss	See cases [RCV000448031]	Chr6:116409181..116488289 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	copy number loss	6q21-6q22.1 deletion [RCV000416567]	Chr6:112069445..120994664 [GRCh37] Chr6:6q21-22.31	likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432]	Chr6:112939290..132327952 [GRCh37] Chr6:6q21-23.2	drug response
NM_000493.4(COL10A1):c.1267C>T (p.Pro423Ser)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001155232]\|not provided [RCV000659061]	Chr6:116120849 [GRCh38] Chr6:116442012 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	copy number loss	not provided [RCV000682693]	Chr6:95549951..116684929 [GRCh37] Chr6:6q16.1-22.1	pathogenic
GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1	copy number loss	not provided [RCV000682711]	Chr6:113261042..117842826 [GRCh37] Chr6:6q21-22.1	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6q22.1(chr6:116438960-116448350)x3	copy number gain	not provided [RCV000745991]	Chr6:116438960..116448350 [GRCh37] Chr6:6q22.1	benign
GRCh37/hg19 6q22.1(chr6:116442327-116448350)x3	copy number gain	not provided [RCV000745992]	Chr6:116442327..116448350 [GRCh37] Chr6:6q22.1	benign
GRCh37/hg19 6q22.1(chr6:116443322-116448350)x3	copy number gain	not provided [RCV000745993]	Chr6:116443322..116448350 [GRCh37] Chr6:6q22.1	benign
GRCh37/hg19 6q22.1(chr6:116443338-116446926)x3	copy number gain	not provided [RCV000745994]	Chr6:116443338..116446926 [GRCh37] Chr6:6q22.1	benign
GRCh37/hg19 6q22.1(chr6:116443447-116448350)x3	copy number gain	not provided [RCV000745995]	Chr6:116443447..116448350 [GRCh37] Chr6:6q22.1	benign
GRCh37/hg19 6q22.1(chr6:116445914-116448350)x3	copy number gain	not provided [RCV000745996]	Chr6:116445914..116448350 [GRCh37] Chr6:6q22.1	benign
GRCh37/hg19 6q22.1(chr6:116446695-116448350)x3	copy number gain	not provided [RCV000745997]	Chr6:116446695..116448350 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.1300_1322del (p.Gly434fs)	deletion	COL10A1-related disorder [RCV003966205]\|not provided [RCV001571356]	Chr6:116120794..116120816 [GRCh38] Chr6:116441957..116441979 [GRCh37] Chr6:6q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000493.4(COL10A1):c.1756A>C (p.Thr586Pro)	single nucleotide variant	not provided [RCV001596890]	Chr6:116120360 [GRCh38] Chr6:116441523 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.2010dup (p.Ser671fs)	duplication	not provided [RCV001597504]	Chr6:116120105..116120106 [GRCh38] Chr6:116441268..116441269 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.155-214T>C	single nucleotide variant	not provided [RCV001566460]	Chr6:116122175 [GRCh38] Chr6:116443338 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1282G>C (p.Gly428Arg)	single nucleotide variant	not provided [RCV000998672]	Chr6:116120834 [GRCh38] Chr6:116441997 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.-15-207T>G	single nucleotide variant	not provided [RCV001568928]	Chr6:116125714 [GRCh38] Chr6:116446877 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1806C>T (p.His602=)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001154390]\|not provided [RCV000921730]	Chr6:116120310 [GRCh38] Chr6:116441473 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.1467C>T (p.Thr489=)	single nucleotide variant	COL10A1-related disorder [RCV003960392]\|not provided [RCV000920950]	Chr6:116120649 [GRCh38] Chr6:116441812 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.1144C>T (p.Pro382Ser)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001156888]\|not provided [RCV000905680]	Chr6:116120972 [GRCh38] Chr6:116442135 [GRCh37] Chr6:6q22.1	benign\|uncertain significance
NM_000493.4(COL10A1):c.1728T>C (p.Tyr576=)	single nucleotide variant	not provided [RCV000892869]	Chr6:116120388 [GRCh38] Chr6:116441551 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.413G>A (p.Arg138Gln)	single nucleotide variant	not provided [RCV000899957]	Chr6:116121703 [GRCh38] Chr6:116442866 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.158T>G (p.Ile53Arg)	single nucleotide variant	Inborn genetic diseases [RCV002552586]\|Metaphyseal chondrodysplasia, Schmid type [RCV001154490]\|not provided [RCV001045681]	Chr6:116121958 [GRCh38] Chr6:116443121 [GRCh37] Chr6:6q22.1	benign\|uncertain significance
NM_000493.4(COL10A1):c.2021G>A (p.Gly674Glu)	single nucleotide variant	not provided [RCV001068456]	Chr6:116120095 [GRCh38] Chr6:116441258 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.720G>T (p.Pro240=)	single nucleotide variant	not provided [RCV000919711]	Chr6:116121396 [GRCh38] Chr6:116442559 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.255C>T (p.Tyr85=)	single nucleotide variant	not provided [RCV000922190]	Chr6:116121861 [GRCh38] Chr6:116443024 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1541del (p.Gly514fs)	deletion	not provided [RCV000971531]	Chr6:116120575 [GRCh38] Chr6:116441738 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.2040G>C (p.Met680Ile)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001151350]\|not provided [RCV000909807]	Chr6:116120076 [GRCh38] Chr6:116441239 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.546T>C (p.Pro182=)	single nucleotide variant	not provided [RCV000977729]	Chr6:116121570 [GRCh38] Chr6:116442733 [GRCh37] Chr6:6q22.1	likely benign
GRCh37/hg19 6q22.1(chr6:116371057-116515290)x3	copy number gain	not provided [RCV000848084]	Chr6:116371057..116515290 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.567G>A (p.Gly189=)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001151463]	Chr6:116121549 [GRCh38] Chr6:116442712 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*185T>G	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001151346]	Chr6:116119888 [GRCh38] Chr6:116441051 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*151C>A	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001151347]	Chr6:116119922 [GRCh38] Chr6:116441085 [GRCh37] Chr6:6q22.1	benign
GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	copy number loss	not provided [RCV000848701]	Chr6:110981075..119608396 [GRCh37] Chr6:6q21-22.31	pathogenic
NM_000493.4(COL10A1):c.1771T>G (p.Cys591Gly)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV000985074]	Chr6:116120345 [GRCh38] Chr6:116441508 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.1948_1953del (p.Val650_Trp651del)	deletion	Metaphyseal chondrodysplasia, Schmid type [RCV000987762]	Chr6:116120163..116120168 [GRCh38] Chr6:116441326..116441331 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.1951_1952dup (p.Trp651fs)	microsatellite	Metaphyseal chondrodysplasia, Schmid type [RCV002227909]	Chr6:116120163..116120164 [GRCh38] Chr6:116441326..116441327 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.913G>T (p.Gly305Cys)	single nucleotide variant	Inborn genetic diseases [RCV003272362]\|not provided [RCV003779982]	Chr6:116121203 [GRCh38] Chr6:116442366 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*324A>G	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001156795]	Chr6:116119749 [GRCh38] Chr6:116440912 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*1145A>G	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001154293]	Chr6:116118928 [GRCh38] Chr6:116440091 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1766_1767insAA (p.Phe589fs)	insertion	not provided [RCV001008578]	Chr6:116120349..116120350 [GRCh38] Chr6:116441512..116441513 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.1942G>C (p.Asp648His)	single nucleotide variant	not provided [RCV001090681]	Chr6:116120174 [GRCh38] Chr6:116441337 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.625G>A (p.Gly209Ser)	single nucleotide variant	COL10A1-related disorder [RCV003945874]\|Metaphyseal chondrodysplasia, Schmid type [RCV001151462]\|not provided [RCV002070835]	Chr6:116121491 [GRCh38] Chr6:116442654 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.1703C>T (p.Pro568Leu)	single nucleotide variant	not provided [RCV003106326]	Chr6:116120413 [GRCh38] Chr6:116441576 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1735_1739delinsACCCAAGGACCCAAGGACCCTT (p.Gln579fs)	indel	not provided [RCV001597462]	Chr6:116120377..116120381 [GRCh38] Chr6:116441540..116441544 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.1790A>T (p.Tyr597Phe)	single nucleotide variant	not provided [RCV001597469]	Chr6:116120326 [GRCh38] Chr6:116441489 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.759C>T (p.Gly253=)	single nucleotide variant	not provided [RCV000974519]	Chr6:116121357 [GRCh38] Chr6:116442520 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.22T>C (p.Leu8=)	single nucleotide variant	not provided [RCV000896903]	Chr6:116125471 [GRCh38] Chr6:116446634 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.839C>T (p.Thr280Ile)	single nucleotide variant	not provided [RCV000885488]	Chr6:116121277 [GRCh38] Chr6:116442440 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.1705A>G (p.Ile569Val)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001198455]	Chr6:116120411 [GRCh38] Chr6:116441574 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.323C>G (p.Pro108Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001154489]	Chr6:116121793 [GRCh38] Chr6:116442956 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*900G>A	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001155128]	Chr6:116119173 [GRCh38] Chr6:116440336 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1416C>T (p.Pro472=)	single nucleotide variant	not provided [RCV000914006]	Chr6:116120700 [GRCh38] Chr6:116441863 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1914del (p.Ser639fs)	deletion	not provided [RCV001009058]	Chr6:116120202 [GRCh38] Chr6:116441365 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.154+104C>T	single nucleotide variant	not provided [RCV001687201]	Chr6:116125235 [GRCh38] Chr6:116446398 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.*292A>G	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001156796]	Chr6:116119781 [GRCh38] Chr6:116440944 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	copy number gain	Microcephaly [RCV001251053]	Chr6:101296547..117004249 [GRCh37] Chr6:6q16.3-22.1	pathogenic
NM_000493.4(COL10A1):c.*428G>A	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001156794]	Chr6:116119645 [GRCh38] Chr6:116440808 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.924A>C (p.Gly308=)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001156890]\|not provided [RCV001510981]	Chr6:116121192 [GRCh38] Chr6:116442355 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.*52C>T	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001151349]	Chr6:116120021 [GRCh38] Chr6:116441184 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*1085G>A	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001154294]	Chr6:116118988 [GRCh38] Chr6:116440151 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1875T>C (p.Tyr625=)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001154389]\|not provided [RCV003546662]	Chr6:116120241 [GRCh38] Chr6:116441404 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.357G>C (p.Glu119Asp)	single nucleotide variant	Inborn genetic diseases [RCV002558338]\|Metaphyseal chondrodysplasia, Schmid type [RCV001154488]	Chr6:116121759 [GRCh38] Chr6:116442922 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.80T>G (p.Met27Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001155319]	Chr6:116125413 [GRCh38] Chr6:116446576 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*572T>C	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001155129]	Chr6:116119501 [GRCh38] Chr6:116440664 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.60T>C (p.Phe20=)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001155320]	Chr6:116125433 [GRCh38] Chr6:116446596 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.-15-56del	deletion	not provided [RCV001714694]	Chr6:116125563 [GRCh38] Chr6:116446726 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.1835_1838del (p.Val612fs)	deletion	not provided [RCV001063431]	Chr6:116120278..116120281 [GRCh38] Chr6:116441441..116441444 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.210_236del (p.Arg71_Pro79del)	deletion	not provided [RCV001596846]	Chr6:116121880..116121906 [GRCh38] Chr6:116443043..116443069 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.2017T>C (p.Ser673Pro)	single nucleotide variant	not provided [RCV001597486]	Chr6:116120099 [GRCh38] Chr6:116441262 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.1823del (p.Thr608fs)	deletion	not provided [RCV001597551]	Chr6:116120293 [GRCh38] Chr6:116441456 [GRCh37] Chr6:6q22.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000493.4(COL10A1):c.*455T>C	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001155130]	Chr6:116119618 [GRCh38] Chr6:116440781 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1217C>G (p.Pro406Arg)	single nucleotide variant	not provided [RCV001044127]	Chr6:116120899 [GRCh38] Chr6:116442062 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.*137C>T	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001151348]	Chr6:116119936 [GRCh38] Chr6:116441099 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.653G>T (p.Gly218Val)	single nucleotide variant	not provided [RCV001047087]	Chr6:116121463 [GRCh38] Chr6:116442626 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.1349C>A (p.Thr450Asn)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001155231]\|not provided [RCV001882484]	Chr6:116120767 [GRCh38] Chr6:116441930 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.1759G>A (p.Gly587Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001154391]	Chr6:116120357 [GRCh38] Chr6:116441520 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.381A>T (p.Gly127=)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001151464]	Chr6:116121735 [GRCh38] Chr6:116442898 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001156891]\|not provided [RCV002558368]\|not specified [RCV002249740]	Chr6:116121344 [GRCh38] Chr6:116442507 [GRCh37] Chr6:6q22.1	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000493.4(COL10A1):c.1916G>C (p.Ser639Thr)	single nucleotide variant	not provided [RCV001090682]	Chr6:116120200 [GRCh38] Chr6:116441363 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.*1038C>T	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001154295]	Chr6:116119035 [GRCh38] Chr6:116440198 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1955_1956dup (p.Gln653fs)	duplication	Metaphyseal chondrodysplasia, Schmid type [RCV001253298]	Chr6:116120159..116120160 [GRCh38] Chr6:116441322..116441323 [GRCh37] Chr6:6q22.1	likely pathogenic
Single allele	deletion	Interstitial 6q microdeletion syndrome [RCV002280353]	Chr6:115941808..133892653 [GRCh38] Chr6:6q22.1-23.2	pathogenic
NM_000493.4(COL10A1):c.1725del (p.Leu575fs)	deletion	not provided [RCV001305559]	Chr6:116120391 [GRCh38] Chr6:116441554 [GRCh37] Chr6:6q22.1	pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.1244G>A (p.Gly415Glu)	single nucleotide variant	Inborn genetic diseases [RCV004609781]\|not provided [RCV001339679]	Chr6:116120872 [GRCh38] Chr6:116442035 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1285G>A (p.Ala429Thr)	single nucleotide variant	not provided [RCV001304235]	Chr6:116120831 [GRCh38] Chr6:116441994 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1952G>A (p.Trp651Ter)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001331279]\|not provided [RCV001269997]	Chr6:116120164 [GRCh38] Chr6:116441327 [GRCh37] Chr6:6q22.1	pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.289C>T (p.Pro97Ser)	single nucleotide variant	not provided [RCV001303384]	Chr6:116121827 [GRCh38] Chr6:116442990 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1843T>G (p.Tyr615Asp)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001293671]	Chr6:116120273 [GRCh38] Chr6:116441436 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.1976C>G (p.Ser659Ter)	single nucleotide variant	not provided [RCV001321416]	Chr6:116120140 [GRCh38] Chr6:116441303 [GRCh37] Chr6:6q22.1	likely pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.1246G>A (p.Gly416Arg)	single nucleotide variant	not provided [RCV001321522]	Chr6:116120870 [GRCh38] Chr6:116442033 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1202G>T (p.Gly401Val)	single nucleotide variant	Inborn genetic diseases [RCV004609762]\|not provided [RCV001321763]	Chr6:116120914 [GRCh38] Chr6:116442077 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.447G>A (p.Pro149=)	single nucleotide variant	not provided [RCV001322193]	Chr6:116121669 [GRCh38] Chr6:116442832 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.1989C>A (p.Tyr663Ter)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV001806158]\|not provided [RCV001372532]	Chr6:116120127 [GRCh38] Chr6:116441290 [GRCh37] Chr6:6q22.1	pathogenic\|likely pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.1994_1995del (p.Ser664_Ser665insTer)	microsatellite	Metaphyseal chondrodysplasia, Schmid type [RCV002259553]\|not provided [RCV001352554]	Chr6:116120121..116120122 [GRCh38] Chr6:116441284..116441285 [GRCh37] Chr6:6q22.1	pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.86C>T (p.Thr29Ile)	single nucleotide variant	not provided [RCV001364545]	Chr6:116125407 [GRCh38] Chr6:116446570 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.532G>A (p.Ala178Thr)	single nucleotide variant	not provided [RCV001327048]	Chr6:116121584 [GRCh38] Chr6:116442747 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.975A>T (p.Gln325His)	single nucleotide variant	not provided [RCV001351415]	Chr6:116121141 [GRCh38] Chr6:116442304 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.2003T>C (p.Val668Ala)	single nucleotide variant	not provided [RCV001365946]	Chr6:116120113 [GRCh38] Chr6:116441276 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1740G>A (p.Gln580=)	single nucleotide variant	not provided [RCV001435287]	Chr6:116120376 [GRCh38] Chr6:116441539 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1098A>C (p.Pro366=)	single nucleotide variant	COL10A1-related disorder [RCV003980536]\|not provided [RCV001515428]	Chr6:116121018 [GRCh38] Chr6:116442181 [GRCh37] Chr6:6q22.1	benign\|likely benign
NM_000493.4(COL10A1):c.1974G>A (p.Glu658=)	single nucleotide variant	not provided [RCV001454510]	Chr6:116120142 [GRCh38] Chr6:116441305 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.336A>C (p.Gly112=)	single nucleotide variant	not provided [RCV001459868]	Chr6:116121780 [GRCh38] Chr6:116442943 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1853G>T (p.Gly618Val)	single nucleotide variant	not provided [RCV001378529]	Chr6:116120263 [GRCh38] Chr6:116441426 [GRCh37] Chr6:6q22.1	pathogenic\|likely pathogenic
NM_000493.4(COL10A1):c.788T>C (p.Ile263Thr)	single nucleotide variant	not provided [RCV001410589]	Chr6:116121328 [GRCh38] Chr6:116442491 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1896C>G (p.Tyr632Ter)	single nucleotide variant	not provided [RCV001596904]	Chr6:116120220 [GRCh38] Chr6:116441383 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.653G>A (p.Gly218Glu)	single nucleotide variant	Inborn genetic diseases [RCV002561294]\|not provided [RCV001468441]	Chr6:116121463 [GRCh38] Chr6:116442626 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.201T>C (p.Pro67=)	single nucleotide variant	not provided [RCV001451479]	Chr6:116121915 [GRCh38] Chr6:116443078 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1955T>G (p.Leu652Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV002227898]	Chr6:116120161 [GRCh38] Chr6:116441324 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.1654T>A (p.Ser552Thr)	single nucleotide variant	not provided [RCV003104984]	Chr6:116120462 [GRCh38] Chr6:116441625 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.637_639dup (p.Pro213_Ser214insPro)	duplication	not provided [RCV001727377]	Chr6:116121476..116121477 [GRCh38] Chr6:116442639..116442640 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.757G>A (p.Gly253Ser)	single nucleotide variant	not specified [RCV002247090]	Chr6:116121359 [GRCh38] Chr6:116442522 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1853_1866del (p.Gly618fs)	deletion	Metaphyseal chondrodysplasia, Schmid type [RCV002238725]	Chr6:116120250..116120263 [GRCh38] Chr6:116441413..116441426 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.1772G>T (p.Cys591Phe)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV002240142]	Chr6:116120344 [GRCh38] Chr6:116441507 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.506C>A (p.Pro169His)	single nucleotide variant	not provided [RCV001800155]	Chr6:116121610 [GRCh38] Chr6:116442773 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1616_1617del (p.Leu539fs)	deletion	Metaphyseal chondrodysplasia, Schmid type [RCV001780800]	Chr6:116120499..116120500 [GRCh38] Chr6:116441662..116441663 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.211C>T (p.Arg71Ter)	single nucleotide variant	See cases [RCV003128430]\|not provided [RCV003238708]	Chr6:116121905 [GRCh38] Chr6:116443068 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.688C>T (p.Gln230Ter)	single nucleotide variant	not provided [RCV001754432]	Chr6:116121428 [GRCh38] Chr6:116442591 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1775dup (p.Ile593fs)	duplication	Metaphyseal chondrodysplasia, Schmid type [RCV001808945]	Chr6:116120340..116120341 [GRCh38] Chr6:116441503..116441504 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.2T>C (p.Met1Thr)	single nucleotide variant	not provided [RCV001929609]	Chr6:116125491 [GRCh38] Chr6:116446654 [GRCh37] Chr6:6q22.1	benign\|uncertain significance
NM_000493.4(COL10A1):c.839C>G (p.Thr280Arg)	single nucleotide variant	COL10A1-related disorder [RCV003418276]\|not provided [RCV001971630]	Chr6:116121277 [GRCh38] Chr6:116442440 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1890del (p.Gly631fs)	deletion	not provided [RCV002020660]	Chr6:116120226 [GRCh38] Chr6:116441389 [GRCh37] Chr6:6q22.1	likely pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.861_877dup (p.Pro293delinsGlnGluTer)	duplication	not provided [RCV002025332]	Chr6:116121238..116121239 [GRCh38] Chr6:116442401..116442402 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.398G>C (p.Gly133Ala)	single nucleotide variant	not provided [RCV001890672]	Chr6:116121718 [GRCh38] Chr6:116442881 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	copy number loss	not specified [RCV002053595]	Chr6:85988428..120548687 [GRCh37] Chr6:6q14.3-22.31	pathogenic
NM_000493.4(COL10A1):c.565G>A (p.Gly189Arg)	single nucleotide variant	not provided [RCV002002054]	Chr6:116121551 [GRCh38] Chr6:116442714 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q22.1(chr6:116409181-116488289)	copy number loss	not specified [RCV002053611]	Chr6:116409181..116488289 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.902C>G (p.Pro301Arg)	single nucleotide variant	not provided [RCV002005090]	Chr6:116121214 [GRCh38] Chr6:116442377 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1760del (p.Gly587fs)	deletion	not provided [RCV002041231]	Chr6:116120356 [GRCh38] Chr6:116441519 [GRCh37] Chr6:6q22.1	likely pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.193C>T (p.Pro65Ser)	single nucleotide variant	not provided [RCV001909175]	Chr6:116121923 [GRCh38] Chr6:116443086 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708)	copy number loss	not specified [RCV002053610]	Chr6:116212698..119482708 [GRCh37] Chr6:6q22.1-22.31	pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.670_671delinsAG (p.Glu224Arg)	indel	not provided [RCV001945470]	Chr6:116121445..116121446 [GRCh38] Chr6:116442608..116442609 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1856C>A (p.Thr619Asn)	single nucleotide variant	not provided [RCV001928619]	Chr6:116120260 [GRCh38] Chr6:116441423 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.424G>C (p.Gly142Arg)	single nucleotide variant	not provided [RCV001964907]	Chr6:116121692 [GRCh38] Chr6:116442855 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1250C>T (p.Pro417Leu)	single nucleotide variant	not provided [RCV001928315]	Chr6:116120866 [GRCh38] Chr6:116442029 [GRCh37] Chr6:6q22.1	uncertain significance
NC_000006.11:g.(?_116441795)_(116442866_?)del	deletion	not provided [RCV001913872]	Chr6:116441795..116442866 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.682C>T (p.Pro228Ser)	single nucleotide variant	Inborn genetic diseases [RCV003289224]\|not provided [RCV001947847]	Chr6:116121434 [GRCh38] Chr6:116442597 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.2026C>G (p.Leu676Val)	single nucleotide variant	not provided [RCV002007052]	Chr6:116120090 [GRCh38] Chr6:116441253 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.737T>C (p.Ile246Thr)	single nucleotide variant	Inborn genetic diseases [RCV003339856]\|not provided [RCV001968314]\|not specified [RCV003401981]	Chr6:116121379 [GRCh38] Chr6:116442542 [GRCh37] Chr6:6q22.1	benign\|likely benign\|uncertain significance
GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	copy number loss	not specified [RCV002053598]	Chr6:92054891..118329651 [GRCh37] Chr6:6q15-22.2	pathogenic
NM_000493.4(COL10A1):c.1663A>C (p.Thr555Pro)	single nucleotide variant	not provided [RCV001927958]	Chr6:116120453 [GRCh38] Chr6:116441616 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.155-1G>A	single nucleotide variant	not provided [RCV001872618]	Chr6:116121962 [GRCh38] Chr6:116443125 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1897del (p.Leu633fs)	deletion	not provided [RCV001891452]	Chr6:116120219 [GRCh38] Chr6:116441382 [GRCh37] Chr6:6q22.1	pathogenic\|likely pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.1457A>G (p.Asn486Ser)	single nucleotide variant	not provided [RCV002038478]	Chr6:116120659 [GRCh38] Chr6:116441822 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1645A>G (p.Met549Val)	single nucleotide variant	Inborn genetic diseases [RCV003167236]\|not provided [RCV001916719]	Chr6:116120471 [GRCh38] Chr6:116441634 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.2014T>G (p.Phe672Val)	single nucleotide variant	not provided [RCV001930280]	Chr6:116120102 [GRCh38] Chr6:116441265 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.1769C>T (p.Thr590Ile)	single nucleotide variant	not provided [RCV001886944]	Chr6:116120347 [GRCh38] Chr6:116441510 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.494G>A (p.Gly165Glu)	single nucleotide variant	not provided [RCV001942899]	Chr6:116121622 [GRCh38] Chr6:116442785 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1474C>G (p.Pro492Ala)	single nucleotide variant	not provided [RCV001975276]	Chr6:116120642 [GRCh38] Chr6:116441805 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1315G>T (p.Ala439Ser)	single nucleotide variant	not provided [RCV001993813]	Chr6:116120801 [GRCh38] Chr6:116441964 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1957C>T (p.Gln653Ter)	single nucleotide variant	not provided [RCV001903699]	Chr6:116120159 [GRCh38] Chr6:116441322 [GRCh37] Chr6:6q22.1	pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.148A>G (p.Ser50Gly)	single nucleotide variant	not provided [RCV001932411]	Chr6:116125345 [GRCh38] Chr6:116446508 [GRCh37] Chr6:6q22.1	benign\|uncertain significance
NM_000493.4(COL10A1):c.242G>A (p.Gly81Glu)	single nucleotide variant	not provided [RCV002009484]	Chr6:116121874 [GRCh38] Chr6:116443037 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1875T>A (p.Tyr625Ter)	single nucleotide variant	not provided [RCV002048660]	Chr6:116120241 [GRCh38] Chr6:116441404 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.1933A>C (p.Thr645Pro)	single nucleotide variant	not provided [RCV001954235]	Chr6:116120183 [GRCh38] Chr6:116441346 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1783G>A (p.Gly595Arg)	single nucleotide variant	not provided [RCV002036684]	Chr6:116120333 [GRCh38] Chr6:116441496 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.1417G>C (p.Gly473Arg)	single nucleotide variant	not provided [RCV002034296]	Chr6:116120699 [GRCh38] Chr6:116441862 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.200C>G (p.Pro67Arg)	single nucleotide variant	not provided [RCV001883312]	Chr6:116121916 [GRCh38] Chr6:116443079 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1844A>G (p.Tyr615Cys)	single nucleotide variant	not provided [RCV002049640]	Chr6:116120272 [GRCh38] Chr6:116441435 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1581G>C (p.Lys527Asn)	single nucleotide variant	not provided [RCV001999373]\|not specified [RCV003994378]	Chr6:116120535 [GRCh38] Chr6:116441698 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.1996G>T (p.Glu666Ter)	single nucleotide variant	not provided [RCV001976166]	Chr6:116120120 [GRCh38] Chr6:116441283 [GRCh37] Chr6:6q22.1	likely pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.115A>G (p.Lys39Glu)	single nucleotide variant	not provided [RCV001998667]	Chr6:116125378 [GRCh38] Chr6:116446541 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.302G>C (p.Gly101Ala)	single nucleotide variant	Inborn genetic diseases [RCV004039736]\|not provided [RCV001904857]	Chr6:116121814 [GRCh38] Chr6:116442977 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1255G>T (p.Gly419Cys)	single nucleotide variant	not provided [RCV001959554]	Chr6:116120861 [GRCh38] Chr6:116442024 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1869C>A (p.Tyr623Ter)	single nucleotide variant	not provided [RCV001897128]	Chr6:116120247 [GRCh38] Chr6:116441410 [GRCh37] Chr6:6q22.1	likely pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.1384T>C (p.Phe462Leu)	single nucleotide variant	not provided [RCV001954003]	Chr6:116120732 [GRCh38] Chr6:116441895 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1867_1876del (p.Tyr623fs)	deletion	Metaphyseal chondrodysplasia, Schmid type [RCV002259555]\|not provided [RCV001933655]	Chr6:116120240..116120249 [GRCh38] Chr6:116441403..116441412 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.46G>T (p.Val16Phe)	single nucleotide variant	not provided [RCV002011131]	Chr6:116125447 [GRCh38] Chr6:116446610 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.592C>T (p.Arg198Cys)	single nucleotide variant	Inborn genetic diseases [RCV002993454]\|not provided [RCV002205827]	Chr6:116121524 [GRCh38] Chr6:116442687 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.1887C>A (p.Thr629=)	single nucleotide variant	not provided [RCV002189165]	Chr6:116120229 [GRCh38] Chr6:116441392 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1521A>G (p.Pro507=)	single nucleotide variant	not provided [RCV002110444]	Chr6:116120595 [GRCh38] Chr6:116441758 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1052T>A (p.Ile351Asn)	single nucleotide variant	COL10A1-related disorder [RCV003903371]\|Inborn genetic diseases [RCV004612138]\|not provided [RCV002109497]	Chr6:116121064 [GRCh38] Chr6:116442227 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.1312G>A (p.Glu438Lys)	single nucleotide variant	not provided [RCV002089766]	Chr6:116120804 [GRCh38] Chr6:116441967 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.813C>G (p.Ala271=)	single nucleotide variant	not provided [RCV002128026]	Chr6:116121303 [GRCh38] Chr6:116442466 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1468G>A (p.Gly490Arg)	single nucleotide variant	Inborn genetic diseases [RCV004047037]\|not provided [RCV002173991]	Chr6:116120648 [GRCh38] Chr6:116441811 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.1167G>T (p.Gly389=)	single nucleotide variant	not provided [RCV002165580]	Chr6:116120949 [GRCh38] Chr6:116442112 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1647G>A (p.Met549Ile)	single nucleotide variant	not provided [RCV002212076]	Chr6:116120469 [GRCh38] Chr6:116441632 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1743T>C (p.His581=)	single nucleotide variant	not provided [RCV002133566]	Chr6:116120373 [GRCh38] Chr6:116441536 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.154+6T>C	single nucleotide variant	not provided [RCV002100638]	Chr6:116125333 [GRCh38] Chr6:116446496 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.174G>A (p.Glu58=)	single nucleotide variant	not provided [RCV002143622]	Chr6:116121942 [GRCh38] Chr6:116443105 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1074A>C (p.Pro358=)	single nucleotide variant	not provided [RCV002121263]	Chr6:116121042 [GRCh38] Chr6:116442205 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.216G>A (p.Gly72=)	single nucleotide variant	not provided [RCV002135642]	Chr6:116121900 [GRCh38] Chr6:116443063 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.387T>C (p.Val129=)	single nucleotide variant	not provided [RCV002203454]	Chr6:116121729 [GRCh38] Chr6:116442892 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.154+11T>C	single nucleotide variant	not provided [RCV002099125]	Chr6:116125328 [GRCh38] Chr6:116446491 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1067G>A (p.Gly356Asp)	single nucleotide variant	not provided [RCV002157739]	Chr6:116121049 [GRCh38] Chr6:116442212 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1364G>T (p.Gly455Val)	single nucleotide variant	not provided [RCV002179797]	Chr6:116120752 [GRCh38] Chr6:116441915 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.1983C>G (p.Gly661=)	single nucleotide variant	not provided [RCV002098849]	Chr6:116120133 [GRCh38] Chr6:116441296 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.787A>G (p.Ile263Val)	single nucleotide variant	not provided [RCV003118114]	Chr6:116121329 [GRCh38] Chr6:116442492 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.1976C>T (p.Ser659Leu)	single nucleotide variant	not provided [RCV003115349]	Chr6:116120140 [GRCh38] Chr6:116441303 [GRCh37] Chr6:6q22.1	uncertain significance
NC_000006.11:g.(?_116441236)_(119252888_?)del	deletion	Congenital disorder of glycosylation, type IAA [RCV003123076]	Chr6:116441236..119252888 [GRCh37] Chr6:6q22.1-22.31	pathogenic
NM_000493.4(COL10A1):c.1772G>A (p.Cys591Tyr)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV002248993]	Chr6:116120344 [GRCh38] Chr6:116441507 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.1280C>T (p.Ala427Val)	single nucleotide variant	Inborn genetic diseases [RCV003239329]\|not provided [RCV003231783]	Chr6:116120836 [GRCh38] Chr6:116441999 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1637T>A (p.Val546Glu)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV002273248]	Chr6:116120479 [GRCh38] Chr6:116441642 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1900del (p.Asp634fs)	deletion	Metaphyseal chondrodysplasia, Schmid type [RCV002281597]	Chr6:116120216 [GRCh38] Chr6:116441379 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.119C>T (p.Thr40Ile)	single nucleotide variant	Inborn genetic diseases [RCV003286359]	Chr6:116125374 [GRCh38] Chr6:116446537 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1102G>A (p.Gly368Arg)	single nucleotide variant	Inborn genetic diseases [RCV003287406]\|not provided [RCV003779979]	Chr6:116121014 [GRCh38] Chr6:116442177 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.551T>A (p.Met184Lys)	single nucleotide variant	not provided [RCV002473994]	Chr6:116121565 [GRCh38] Chr6:116442728 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1833G>A (p.Trp611Ter)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV002306433]	Chr6:116120283 [GRCh38] Chr6:116441446 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.1951T>G (p.Trp651Gly)	single nucleotide variant	not provided [RCV002303834]	Chr6:116120165 [GRCh38] Chr6:116441328 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1453dup (p.Leu485fs)	duplication	not specified [RCV002308570]	Chr6:116120662..116120663 [GRCh38] Chr6:116441825..116441826 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1735C>A (p.Gln579Lys)	single nucleotide variant	not provided [RCV002296353]	Chr6:116120381 [GRCh38] Chr6:116441544 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.547G>C (p.Gly183Arg)	single nucleotide variant	not provided [RCV002298986]	Chr6:116121569 [GRCh38] Chr6:116442732 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1411A>G (p.Ser471Gly)	single nucleotide variant	not provided [RCV002302032]	Chr6:116120705 [GRCh38] Chr6:116441868 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.721G>C (p.Gly241Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV003455629]\|not provided [RCV002970982]	Chr6:116121395 [GRCh38] Chr6:116442558 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1167_1310del (p.Tyr390_Gly437del)	deletion	not provided [RCV002858562]	Chr6:116120806..116120949 [GRCh38] Chr6:116441969..116442112 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.959G>T (p.Gly320Val)	single nucleotide variant	not provided [RCV002751544]	Chr6:116121157 [GRCh38] Chr6:116442320 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.64G>A (p.Ala22Thr)	single nucleotide variant	Inborn genetic diseases [RCV002733732]	Chr6:116125429 [GRCh38] Chr6:116446592 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1160A>T (p.Lys387Ile)	single nucleotide variant	Inborn genetic diseases [RCV002689123]	Chr6:116120956 [GRCh38] Chr6:116442119 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1745A>G (p.Tyr582Cys)	single nucleotide variant	not provided [RCV002843037]	Chr6:116120371 [GRCh38] Chr6:116441534 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1839C>T (p.Gly613=)	single nucleotide variant	not provided [RCV002756266]	Chr6:116120277 [GRCh38] Chr6:116441440 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1635G>A (p.Gly545=)	single nucleotide variant	not provided [RCV002727280]	Chr6:116120481 [GRCh38] Chr6:116441644 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1968T>G (p.Asn656Lys)	single nucleotide variant	not provided [RCV002843371]	Chr6:116120148 [GRCh38] Chr6:116441311 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.575G>A (p.Gly192Glu)	single nucleotide variant	not provided [RCV003011684]	Chr6:116121541 [GRCh38] Chr6:116442704 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1995dup (p.Glu666Ter)	duplication	not provided [RCV002903197]	Chr6:116120120..116120121 [GRCh38] Chr6:116441283..116441284 [GRCh37] Chr6:6q22.1	likely pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.1867T>A (p.Tyr623Asn)	single nucleotide variant	not provided [RCV002816112]	Chr6:116120249 [GRCh38] Chr6:116441412 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.155-11G>A	single nucleotide variant	not provided [RCV002785353]	Chr6:116121972 [GRCh38] Chr6:116443135 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.421C>A (p.Pro141Thr)	single nucleotide variant	not provided [RCV002953817]	Chr6:116121695 [GRCh38] Chr6:116442858 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1451G>A (p.Gly484Asp)	single nucleotide variant	not provided [RCV002658952]	Chr6:116120665 [GRCh38] Chr6:116441828 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1184G>A (p.Gly395Asp)	single nucleotide variant	not provided [RCV002800317]	Chr6:116120932 [GRCh38] Chr6:116442095 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.520G>A (p.Gly174Arg)	single nucleotide variant	not provided [RCV002696032]	Chr6:116121596 [GRCh38] Chr6:116442759 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1837_1849del (p.Gly613fs)	deletion	not provided [RCV002871272]	Chr6:116120267..116120279 [GRCh38] Chr6:116441430..116441442 [GRCh37] Chr6:6q22.1	likely pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.1433C>T (p.Ala478Val)	single nucleotide variant	not provided [RCV002705349]	Chr6:116120683 [GRCh38] Chr6:116441846 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.615A>G (p.Pro205=)	single nucleotide variant	not provided [RCV002637119]	Chr6:116121501 [GRCh38] Chr6:116442664 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.233G>A (p.Gly78Glu)	single nucleotide variant	not provided [RCV003038171]	Chr6:116121883 [GRCh38] Chr6:116443046 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1261C>T (p.Pro421Ser)	single nucleotide variant	COL10A1-related disorder [RCV003943667]\|Inborn genetic diseases [RCV003274113]\|not provided [RCV002949605]	Chr6:116120855 [GRCh38] Chr6:116442018 [GRCh37] Chr6:6q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000493.4(COL10A1):c.1955T>C (p.Leu652Pro)	single nucleotide variant	not provided [RCV002949110]	Chr6:116120161 [GRCh38] Chr6:116441324 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.1610C>A (p.Thr537Asn)	single nucleotide variant	not provided [RCV002706238]	Chr6:116120506 [GRCh38] Chr6:116441669 [GRCh37] Chr6:6q22.1	benign\|uncertain significance
NM_000493.4(COL10A1):c.1851_1852insTCT (p.Asn617_Gly618insSer)	insertion	not provided [RCV002848239]	Chr6:116120264..116120265 [GRCh38] Chr6:116441427..116441428 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.973C>A (p.Gln325Lys)	single nucleotide variant	not provided [RCV003036568]	Chr6:116121143 [GRCh38] Chr6:116442306 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.664dup (p.Arg222fs)	duplication	not provided [RCV002785475]	Chr6:116121451..116121452 [GRCh38] Chr6:116442614..116442615 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1123G>T (p.Ala375Ser)	single nucleotide variant	Inborn genetic diseases [RCV002694035]	Chr6:116120993 [GRCh38] Chr6:116442156 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.539G>A (p.Gly180Glu)	single nucleotide variant	not provided [RCV002825097]	Chr6:116121577 [GRCh38] Chr6:116442740 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1151C>T (p.Ser384Leu)	single nucleotide variant	Inborn genetic diseases [RCV002998446]\|not provided [RCV003720727]	Chr6:116120965 [GRCh38] Chr6:116442128 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.1789T>C (p.Tyr597His)	single nucleotide variant	not provided [RCV003037183]	Chr6:116120327 [GRCh38] Chr6:116441490 [GRCh37] Chr6:6q22.1	pathogenic\|likely pathogenic
NM_000493.4(COL10A1):c.1946del (p.Gln649fs)	deletion	not provided [RCV002926657]	Chr6:116120170 [GRCh38] Chr6:116441333 [GRCh37] Chr6:6q22.1	likely pathogenic\|uncertain significance
NM_000493.4(COL10A1):c.1741C>A (p.His581Asn)	single nucleotide variant	not provided [RCV002736603]	Chr6:116120375 [GRCh38] Chr6:116441538 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1361T>C (p.Ile454Thr)	single nucleotide variant	Inborn genetic diseases [RCV002910431]	Chr6:116120755 [GRCh38] Chr6:116441918 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.173A>T (p.Glu58Val)	single nucleotide variant	not provided [RCV002952379]	Chr6:116121943 [GRCh38] Chr6:116443106 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.863G>C (p.Gly288Ala)	single nucleotide variant	not provided [RCV002659266]	Chr6:116121253 [GRCh38] Chr6:116442416 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.885T>C (p.Pro295=)	single nucleotide variant	not provided [RCV002872445]	Chr6:116121231 [GRCh38] Chr6:116442394 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1925T>G (p.Ile642Ser)	single nucleotide variant	not provided [RCV002890332]	Chr6:116120191 [GRCh38] Chr6:116441354 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.422C>G (p.Pro141Arg)	single nucleotide variant	not provided [RCV002595602]	Chr6:116121694 [GRCh38] Chr6:116442857 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1841T>G (p.Leu614Arg)	single nucleotide variant	not provided [RCV003058140]	Chr6:116120275 [GRCh38] Chr6:116441438 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1130G>A (p.Gly377Asp)	single nucleotide variant	Inborn genetic diseases [RCV002873047]	Chr6:116120986 [GRCh38] Chr6:116442149 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.299C>T (p.Pro100Leu)	single nucleotide variant	not provided [RCV002933043]	Chr6:116121817 [GRCh38] Chr6:116442980 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1015C>G (p.Pro339Ala)	single nucleotide variant	not provided [RCV002574777]	Chr6:116121101 [GRCh38] Chr6:116442264 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1471C>G (p.Pro491Ala)	single nucleotide variant	not provided [RCV002700867]	Chr6:116120645 [GRCh38] Chr6:116441808 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1876G>A (p.Asp626Asn)	single nucleotide variant	not provided [RCV002572539]	Chr6:116120240 [GRCh38] Chr6:116441403 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1430C>G (p.Pro477Arg)	single nucleotide variant	not provided [RCV003040966]	Chr6:116120686 [GRCh38] Chr6:116441849 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1130G>T (p.Gly377Val)	single nucleotide variant	not provided [RCV003065953]	Chr6:116120986 [GRCh38] Chr6:116442149 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.235C>T (p.Pro79Ser)	single nucleotide variant	Inborn genetic diseases [RCV002812262]\|not provided [RCV003546890]	Chr6:116121881 [GRCh38] Chr6:116443044 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.224G>A (p.Gly75Asp)	single nucleotide variant	Inborn genetic diseases [RCV002670123]	Chr6:116121892 [GRCh38] Chr6:116443055 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1195C>T (p.Pro399Ser)	single nucleotide variant	not provided [RCV002806539]	Chr6:116120921 [GRCh38] Chr6:116442084 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1012G>A (p.Gly338Arg)	single nucleotide variant	not provided [RCV002938048]	Chr6:116121104 [GRCh38] Chr6:116442267 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1116C>G (p.Tyr372Ter)	single nucleotide variant	not provided [RCV002807337]	Chr6:116121000 [GRCh38] Chr6:116442163 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1360A>G (p.Ile454Val)	single nucleotide variant	not provided [RCV002746377]	Chr6:116120756 [GRCh38] Chr6:116441919 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.416G>A (p.Gly139Asp)	single nucleotide variant	not provided [RCV002579062]	Chr6:116121700 [GRCh38] Chr6:116442863 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1056G>A (p.Pro352=)	single nucleotide variant	not provided [RCV002580031]	Chr6:116121060 [GRCh38] Chr6:116442223 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1542C>T (p.Gly514=)	single nucleotide variant	not provided [RCV002631707]	Chr6:116120574 [GRCh38] Chr6:116441737 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.171A>G (p.Gly57=)	single nucleotide variant	not provided [RCV002601502]	Chr6:116121945 [GRCh38] Chr6:116443108 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1777A>G (p.Ile593Val)	single nucleotide variant	Inborn genetic diseases [RCV004612180]\|not provided [RCV002576608]	Chr6:116120339 [GRCh38] Chr6:116441502 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.462G>A (p.Val154=)	single nucleotide variant	not provided [RCV002961936]	Chr6:116121654 [GRCh38] Chr6:116442817 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1706T>C (p.Ile569Thr)	single nucleotide variant	not provided [RCV003091421]	Chr6:116120410 [GRCh38] Chr6:116441573 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1970C>A (p.Ala657Asp)	single nucleotide variant	not provided [RCV002583560]	Chr6:116120146 [GRCh38] Chr6:116441309 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.172G>A (p.Glu58Lys)	single nucleotide variant	Inborn genetic diseases [RCV003289569]\|not provided [RCV002605669]	Chr6:116121944 [GRCh38] Chr6:116443107 [GRCh37] Chr6:6q22.1	likely benign\|uncertain significance
NM_000493.4(COL10A1):c.976G>C (p.Gly326Arg)	single nucleotide variant	Inborn genetic diseases [RCV002655441]	Chr6:116121140 [GRCh38] Chr6:116442303 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.781G>C (p.Glu261Gln)	single nucleotide variant	not provided [RCV003092555]	Chr6:116121335 [GRCh38] Chr6:116442498 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1561A>T (p.Met521Leu)	single nucleotide variant	not provided [RCV002586410]	Chr6:116120555 [GRCh38] Chr6:116441718 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1268C>T (p.Pro423Leu)	single nucleotide variant	not provided [RCV002721933]	Chr6:116120848 [GRCh38] Chr6:116442011 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1234C>A (p.Pro412Thr)	single nucleotide variant	not provided [RCV002611595]	Chr6:116120882 [GRCh38] Chr6:116442045 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1055C>T (p.Pro352Leu)	single nucleotide variant	Inborn genetic diseases [RCV004612192]\|not provided [RCV002589549]\|not specified [RCV003479433]	Chr6:116121061 [GRCh38] Chr6:116442224 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1188C>T (p.Leu396=)	single nucleotide variant	not provided [RCV002610280]	Chr6:116120928 [GRCh38] Chr6:116442091 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.490A>C (p.Thr164Pro)	single nucleotide variant	Inborn genetic diseases [RCV004614386]\|not provided [RCV002612396]	Chr6:116121626 [GRCh38] Chr6:116442789 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.865A>G (p.Ile289Val)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV003145094]	Chr6:116121251 [GRCh38] Chr6:116442414 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1472C>T (p.Pro491Leu)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV003145095]	Chr6:116120644 [GRCh38] Chr6:116441807 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.767G>A (p.Gly256Glu)	single nucleotide variant	Inborn genetic diseases [RCV003204197]	Chr6:116121349 [GRCh38] Chr6:116442512 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.619C>T (p.Pro207Ser)	single nucleotide variant	Inborn genetic diseases [RCV003216915]	Chr6:116121497 [GRCh38] Chr6:116442660 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.808G>A (p.Gly270Arg)	single nucleotide variant	Inborn genetic diseases [RCV003203249]	Chr6:116121308 [GRCh38] Chr6:116442471 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1432G>A (p.Ala478Thr)	single nucleotide variant	Inborn genetic diseases [RCV003175134]	Chr6:116120684 [GRCh38] Chr6:116441847 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.635G>A (p.Gly212Glu)	single nucleotide variant	Inborn genetic diseases [RCV003308923]	Chr6:116121481 [GRCh38] Chr6:116442644 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	copy number loss	6q terminal deletion syndrome [RCV003319582]	Chr6:112713854..124105184 [GRCh37] Chr6:6q21-22.31	likely pathogenic
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	copy number loss	Intellectual disability, autosomal dominant 55, with seizures [RCV003327704]	Chr6:113857248..130442177 [GRCh38] Chr6:6q21-23.1	pathogenic
NM_000493.4(COL10A1):c.1725G>T (p.Leu575Phe)	single nucleotide variant	not provided [RCV003325888]	Chr6:116120391 [GRCh38] Chr6:116441554 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1283G>A (p.Gly428Glu)	single nucleotide variant	Inborn genetic diseases [RCV003379154]	Chr6:116120833 [GRCh38] Chr6:116441996 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.833C>T (p.Pro278Leu)	single nucleotide variant	Inborn genetic diseases [RCV003348341]	Chr6:116121283 [GRCh38] Chr6:116442446 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1741C>T (p.His581Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003373705]	Chr6:116120375 [GRCh38] Chr6:116441538 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1874A>G (p.Tyr625Cys)	single nucleotide variant	Inborn genetic diseases [RCV003374233]	Chr6:116120242 [GRCh38] Chr6:116441405 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.451G>A (p.Gly151Arg)	single nucleotide variant	not provided [RCV003873673]	Chr6:116121665 [GRCh38] Chr6:116442828 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.326G>C (p.Gly109Ala)	single nucleotide variant	not provided [RCV003873303]	Chr6:116121790 [GRCh38] Chr6:116442953 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.822_842dup (p.Lys281_Gly282insProGlyIleProGlyThrLys)	duplication	not provided [RCV003875257]	Chr6:116121273..116121274 [GRCh38] Chr6:116442436..116442437 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1210G>C (p.Gly404Arg)	single nucleotide variant	not provided [RCV003872803]	Chr6:116120906 [GRCh38] Chr6:116442069 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.46G>C (p.Val16Leu)	single nucleotide variant	not provided [RCV003571155]	Chr6:116125447 [GRCh38] Chr6:116446610 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.983C>G (p.Ala328Gly)	single nucleotide variant	COL10A1-related disorder [RCV003420713]	Chr6:116121133 [GRCh38] Chr6:116442296 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1954C>T (p.Leu652Phe)	single nucleotide variant	not provided [RCV003432013]	Chr6:116120162 [GRCh38] Chr6:116441325 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.797C>G (p.Pro266Arg)	single nucleotide variant	COL10A1-related disorder [RCV003412429]	Chr6:116121319 [GRCh38] Chr6:116442482 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1662T>A (p.Phe554Leu)	single nucleotide variant	COL10A1-related disorder [RCV003414336]	Chr6:116120454 [GRCh38] Chr6:116441617 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.1859C>T (p.Pro620Leu)	single nucleotide variant	COL10A1-related disorder [RCV003404423]	Chr6:116120257 [GRCh38] Chr6:116441420 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1918G>C (p.Ala640Pro)	single nucleotide variant	not provided [RCV003578811]	Chr6:116120198 [GRCh38] Chr6:116441361 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1844dup (p.Tyr615Ter)	duplication	not provided [RCV003578857]	Chr6:116120271..116120272 [GRCh38] Chr6:116441434..116441435 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.413G>C (p.Arg138Pro)	single nucleotide variant	not provided [RCV003574354]	Chr6:116121703 [GRCh38] Chr6:116442866 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1927G>C (p.Asp643His)	single nucleotide variant	not provided [RCV003829953]	Chr6:116120189 [GRCh38] Chr6:116441352 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1807G>C (p.Val603Leu)	single nucleotide variant	not provided [RCV003713117]	Chr6:116120309 [GRCh38] Chr6:116441472 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.781G>A (p.Glu261Lys)	single nucleotide variant	not provided [RCV003876281]	Chr6:116121335 [GRCh38] Chr6:116442498 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1990_1991del (p.Ser664fs)	deletion	not provided [RCV003689893]	Chr6:116120125..116120126 [GRCh38] Chr6:116441288..116441289 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.1498C>T (p.His500Tyr)	single nucleotide variant	not provided [RCV003829740]	Chr6:116120618 [GRCh38] Chr6:116441781 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.539G>C (p.Gly180Ala)	single nucleotide variant	not provided [RCV003877130]	Chr6:116121577 [GRCh38] Chr6:116442740 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.277G>A (p.Glu93Lys)	single nucleotide variant	not provided [RCV003660187]	Chr6:116121839 [GRCh38] Chr6:116443002 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.68A>C (p.Glu23Ala)	single nucleotide variant	not provided [RCV003878178]	Chr6:116125425 [GRCh38] Chr6:116446588 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.942C>T (p.Gly314=)	single nucleotide variant	not provided [RCV003715331]	Chr6:116121174 [GRCh38] Chr6:116442337 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.499C>T (p.Pro167Ser)	single nucleotide variant	not specified [RCV003490863]	Chr6:116121617 [GRCh38] Chr6:116442780 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1338A>G (p.Gly446=)	single nucleotide variant	not provided [RCV003547882]	Chr6:116120778 [GRCh38] Chr6:116441941 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.542T>C (p.Val181Ala)	single nucleotide variant	not provided [RCV003827388]	Chr6:116121574 [GRCh38] Chr6:116442737 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.135C>T (p.Pro45=)	single nucleotide variant	not provided [RCV003881899]	Chr6:116125358 [GRCh38] Chr6:116446521 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1623T>G (p.Ser541Arg)	single nucleotide variant	not provided [RCV003716734]	Chr6:116120493 [GRCh38] Chr6:116441656 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.184_186dup (p.Pro62_Gly63insPro)	duplication	not provided [RCV003549983]	Chr6:116121929..116121930 [GRCh38] Chr6:116443092..116443093 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1997A>G (p.Glu666Gly)	single nucleotide variant	not provided [RCV003664515]	Chr6:116120119 [GRCh38] Chr6:116441282 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1926C>T (p.Ile642=)	single nucleotide variant	not provided [RCV003850538]	Chr6:116120190 [GRCh38] Chr6:116441353 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1370C>T (p.Pro457Leu)	single nucleotide variant	not provided [RCV003580148]	Chr6:116120746 [GRCh38] Chr6:116441909 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.318G>A (p.Gly106=)	single nucleotide variant	not provided [RCV003835891]	Chr6:116121798 [GRCh38] Chr6:116442961 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.170G>A (p.Gly57Glu)	single nucleotide variant	Inborn genetic diseases [RCV004614542]\|not provided [RCV003833317]	Chr6:116121946 [GRCh38] Chr6:116443109 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.154+15A>G	single nucleotide variant	not provided [RCV003697923]	Chr6:116125324 [GRCh38] Chr6:116446487 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1021G>C (p.Gly341Arg)	single nucleotide variant	not provided [RCV003549566]	Chr6:116121095 [GRCh38] Chr6:116442258 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.138C>T (p.Tyr46=)	single nucleotide variant	not provided [RCV003559261]	Chr6:116125355 [GRCh38] Chr6:116446518 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.562A>G (p.Lys188Glu)	single nucleotide variant	not provided [RCV003663985]	Chr6:116121554 [GRCh38] Chr6:116442717 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.446C>T (p.Pro149Leu)	single nucleotide variant	not provided [RCV003725859]	Chr6:116121670 [GRCh38] Chr6:116442833 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.2027T>C (p.Leu676Pro)	single nucleotide variant	not provided [RCV003579508]	Chr6:116120089 [GRCh38] Chr6:116441252 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1474C>T (p.Pro492Ser)	single nucleotide variant	not provided [RCV003671194]	Chr6:116120642 [GRCh38] Chr6:116441805 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.951G>A (p.Gly317=)	single nucleotide variant	not provided [RCV003664983]	Chr6:116121165 [GRCh38] Chr6:116442328 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.1861G>A (p.Val621Ile)	single nucleotide variant	not provided [RCV003549758]	Chr6:116120255 [GRCh38] Chr6:116441418 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.500del (p.Pro167fs)	deletion	not provided [RCV003665224]	Chr6:116121616 [GRCh38] Chr6:116442779 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.807T>C (p.Ala269=)	single nucleotide variant	not provided [RCV003841736]	Chr6:116121309 [GRCh38] Chr6:116442472 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.182C>T (p.Thr61Ile)	single nucleotide variant	not provided [RCV003841231]	Chr6:116121934 [GRCh38] Chr6:116443097 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.327T>G (p.Gly109=)	single nucleotide variant	not provided [RCV003705699]	Chr6:116121789 [GRCh38] Chr6:116442952 [GRCh37] Chr6:6q22.1	benign
NM_000493.4(COL10A1):c.745C>T (p.Pro249Ser)	single nucleotide variant	not provided [RCV003682406]	Chr6:116121371 [GRCh38] Chr6:116442534 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1801T>A (p.Tyr601Asn)	single nucleotide variant	not provided [RCV003568611]	Chr6:116120315 [GRCh38] Chr6:116441478 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.491C>T (p.Thr164Ile)	single nucleotide variant	not provided [RCV003707960]	Chr6:116121625 [GRCh38] Chr6:116442788 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.517C>T (p.Pro173Ser)	single nucleotide variant	Inborn genetic diseases [RCV004614505]\|not provided [RCV003732860]	Chr6:116121599 [GRCh38] Chr6:116442762 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.2032G>C (p.Ala678Pro)	single nucleotide variant	Inborn genetic diseases [RCV004369569]\|not provided [RCV003867415]	Chr6:116120084 [GRCh38] Chr6:116441247 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	copy number gain	not specified [RCV003986625]	Chr6:110546061..131896074 [GRCh37] Chr6:6q21-23.2	likely pathogenic
NM_000493.4(COL10A1):c.1472C>G (p.Pro491Arg)	single nucleotide variant	not provided [RCV003682917]	Chr6:116120644 [GRCh38] Chr6:116441807 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1252C>T (p.Pro418Ser)	single nucleotide variant	Inborn genetic diseases [RCV004614519]\|not provided [RCV003737959]	Chr6:116120864 [GRCh38] Chr6:116442027 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.52G>C (p.Gly18Arg)	single nucleotide variant	not provided [RCV003684580]	Chr6:116125441 [GRCh38] Chr6:116446604 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.1249C>A (p.Pro417Thr)	single nucleotide variant	Inborn genetic diseases [RCV004614520]\|not provided [RCV003737960]	Chr6:116120867 [GRCh38] Chr6:116442030 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1869C>G (p.Tyr623Ter)	single nucleotide variant	not provided [RCV003709463]	Chr6:116120247 [GRCh38] Chr6:116441410 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.288G>T (p.Leu96Phe)	single nucleotide variant	not provided [RCV003722426]	Chr6:116121828 [GRCh38] Chr6:116442991 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1326A>G (p.Arg442=)	single nucleotide variant	not provided [RCV003566427]	Chr6:116120790 [GRCh38] Chr6:116441953 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.2039T>A (p.Met680Lys)	single nucleotide variant	not provided [RCV003853298]	Chr6:116120077 [GRCh38] Chr6:116441240 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1766T>C (p.Phe589Ser)	single nucleotide variant	not provided [RCV003685386]	Chr6:116120350 [GRCh38] Chr6:116441513 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1784G>C (p.Gly595Ala)	single nucleotide variant	not provided [RCV003685663]	Chr6:116120332 [GRCh38] Chr6:116441495 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1387C>T (p.Pro463Ser)	single nucleotide variant	not provided [RCV003860513]	Chr6:116120729 [GRCh38] Chr6:116441892 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.595C>T (p.Pro199Ser)	single nucleotide variant	not provided [RCV003859604]	Chr6:116121521 [GRCh38] Chr6:116442684 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1953del (p.Trp651fs)	deletion	not provided [RCV003552022]	Chr6:116120163 [GRCh38] Chr6:116441326 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.853G>C (p.Gly285Arg)	single nucleotide variant	not provided [RCV003729784]	Chr6:116121263 [GRCh38] Chr6:116442426 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.2007C>T (p.His669=)	single nucleotide variant	not provided [RCV003562681]	Chr6:116120109 [GRCh38] Chr6:116441272 [GRCh37] Chr6:6q22.1	likely benign
NM_000493.4(COL10A1):c.55G>A (p.Val19Met)	single nucleotide variant	Inborn genetic diseases [RCV004444507]	Chr6:116125438 [GRCh38] Chr6:116446601 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.746C>G (p.Pro249Arg)	single nucleotide variant	Inborn genetic diseases [RCV004444508]	Chr6:116121370 [GRCh38] Chr6:116442533 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1845dup (p.Lys616Ter)	duplication	Metaphyseal chondrodysplasia, Schmid type [RCV003990115]	Chr6:116120270..116120271 [GRCh38] Chr6:116441433..116441434 [GRCh37] Chr6:6q22.1	likely pathogenic
NM_000493.4(COL10A1):c.871_892del (p.Gly291fs)	deletion	COL10A1-related disorder [RCV003981863]	Chr6:116121224..116121245 [GRCh38] Chr6:116442387..116442408 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1945C>T (p.Gln649Ter)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV004555013]	Chr6:116120171 [GRCh38] Chr6:116441334 [GRCh37] Chr6:6q22.1	pathogenic
NM_000493.4(COL10A1):c.202G>A (p.Ala68Thr)	single nucleotide variant	Inborn genetic diseases [RCV004444506]	Chr6:116121914 [GRCh38] Chr6:116443077 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	copy number loss	not provided [RCV004577478]	Chr6:109324789..124836619 [GRCh37] Chr6:6q21-22.31	pathogenic
NC_000006.11:g.(?_116441236)_(116600993_?)dup	duplication	not provided [RCV004578727]	Chr6:116441236..116600993 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1093G>A (p.Gly365Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV004594783]	Chr6:116121023 [GRCh38] Chr6:116442186 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.238C>G (p.Pro80Ala)	single nucleotide variant	Inborn genetic diseases [RCV004607905]	Chr6:116121878 [GRCh38] Chr6:116443041 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1508_1509del (p.Glu503fs)	microsatellite	Metaphyseal chondrodysplasia, Schmid type [RCV004595154]	Chr6:116120607..116120608 [GRCh38] Chr6:116441770..116441771 [GRCh37] Chr6:6q22.1	uncertain significance
NM_000493.4(COL10A1):c.1952G>T (p.Trp651Leu)	single nucleotide variant	Metaphyseal chondrodysplasia, Schmid type [RCV003145093]	Chr6:116120164 [GRCh38] Chr6:116441327 [GRCh37] Chr6:6q22.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1081
Count of miRNA genes:	564
Interacting mature miRNAs:	621
Transcripts:	ENST00000243222, ENST00000327673, ENST00000418500, ENST00000452729
Prediction methods:	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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407371653	GWAS1020629_H	refractive error QTL GWAS1020629 (human)		6e-12	refractive error		6	116120483	116120484	Human
406892710	GWAS541686_H	Abnormality of refraction QTL GWAS541686 (human)		2e-36	Abnormality of refraction		6	116125413	116125414	Human
407214018	GWAS862994_H	Hypermetropia, Myopia QTL GWAS862994 (human)		0.0000001	Hypermetropia, Myopia		6	116200027	116200028	Human
407289089	GWAS938065_H	body height QTL GWAS938065 (human)		5e-11	body height (VT:0001253)	body height (CMO:0000106)	6	116211696	116211697	Human
406964045	GWAS613021_H	refractive error, age at onset, Myopia QTL GWAS613021 (human)		7e-11	refractive error, age at onset, Myopia		6	116125413	116125414	Human
406931884	GWAS580860_H	body height QTL GWAS580860 (human)		6e-14	body height (VT:0001253)	body height (CMO:0000106)	6	116193090	116193091	Human
407195371	GWAS844347_H	level of collagen alpha-1(X) chain in blood serum QTL GWAS844347 (human)		1e-12	level of collagen alpha-1(X) chain in blood serum		6	116123990	116123991	Human
406941495	GWAS590471_H	protein measurement QTL GWAS590471 (human)		8e-40	protein measurement		6	116171269	116171270	Human
407407199	GWAS1056175_H	Myopia QTL GWAS1056175 (human)		4e-10	Myopia		6	116120483	116120484	Human
406984277	GWAS633253_H	age-related macular degeneration QTL GWAS633253 (human)		2e-08	age-related macular degeneration		6	116122572	116122573	Human
407195837	GWAS844813_H	carpal tunnel syndrome QTL GWAS844813 (human)		3e-09	carpal tunnel syndrome		6	116125413	116125414	Human
407288798	GWAS937774_H	body height QTL GWAS937774 (human)		4e-79	body height (VT:0001253)	body height (CMO:0000106)	6	116133425	116133426	Human
406941497	GWAS590473_H	protein measurement QTL GWAS590473 (human)		5e-127	protein measurement		6	116143056	116143057	Human
407300798	GWAS949774_H	neutropenia, response to gemcitabine QTL GWAS949774 (human)		0.000003	neutropenia, response to gemcitabine		6	116188473	116188474	Human
407289087	GWAS938063_H	body height QTL GWAS938063 (human)		2e-09	body height (VT:0001253)	body height (CMO:0000106)	6	116148594	116148595	Human
407110104	GWAS759080_H	protein measurement QTL GWAS759080 (human)		4e-09	protein measurement		6	116168103	116168104	Human
407169370	GWAS818346_H	Myopia QTL GWAS818346 (human)		2e-13	Myopia		6	116125413	116125414	Human

Markers in Region

RH46866

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	116,440,151 - 116,440,275	UniSTS	GRCh37
Build 36	6	116,546,844 - 116,546,968	RGD	NCBI36
Celera	6	117,183,173 - 117,183,297	RGD
Cytogenetic Map	6	q21-q22	UniSTS
Cytogenetic Map	6	q22.1	UniSTS
HuRef	6	114,020,345 - 114,020,469	UniSTS
GeneMap99-GB4 RH Map	6	490.51	UniSTS

STS-X60382

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	116,440,790 - 116,440,981	UniSTS	GRCh37
Celera	6	117,183,812 - 117,184,003	UniSTS
Celera	6	117,184,089 - 117,184,265	RGD
Cytogenetic Map	6	q22.1	UniSTS
Cytogenetic Map	6	q21-q22	UniSTS
HuRef	6	114,021,261 - 114,021,437	UniSTS
HuRef	6	114,020,984 - 114,021,175	UniSTS
GeneMap99-GB4 RH Map	6	489.56	UniSTS

GDB:376245

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	116,441,171 - 116,441,441	UniSTS	GRCh37
Build 36	6	116,547,864 - 116,548,134	RGD	NCBI36
Celera	6	117,184,193 - 117,184,466	RGD
Cytogenetic Map	6	q21-q22	UniSTS
Cytogenetic Map	6	q22.1	UniSTS
HuRef	6	114,021,365 - 114,021,638	UniSTS

GDB:376260

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	116,446,460 - 116,446,597	UniSTS	GRCh37
Build 36	6	116,553,153 - 116,553,290	RGD	NCBI36
Celera	6	117,189,485 - 117,189,622	RGD
Cytogenetic Map	6	q21-q22	UniSTS
Cytogenetic Map	6	q22.1	UniSTS

PMC123659P1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	116,441,089 - 116,441,912	UniSTS	GRCh37
Build 36	6	116,547,782 - 116,548,605	RGD	NCBI36
Celera	6	117,184,111 - 117,184,937	RGD
Cytogenetic Map	6	q21-q22	UniSTS
Cytogenetic Map	6	q22.1	UniSTS
HuRef	6	114,021,283 - 114,022,109	UniSTS

PMC351321P2

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	116,441,436 - 116,441,638	UniSTS	GRCh37
Build 36	6	116,548,129 - 116,548,331	RGD	NCBI36
Celera	6	117,184,461 - 117,184,663	RGD
Cytogenetic Map	6	q21-q22	UniSTS
Cytogenetic Map	6	q22.1	UniSTS
HuRef	6	114,021,633 - 114,021,835	UniSTS

COL10A1__1174

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	116,440,823 - 116,441,563	UniSTS	GRCh37
Build 36	6	116,547,516 - 116,548,256	RGD	NCBI36
Celera	6	117,183,845 - 117,184,588	RGD
HuRef	6	114,021,017 - 114,021,760	UniSTS

SHGC-35770

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	116,440,853 - 116,441,075	UniSTS	GRCh37
Build 36	6	116,547,546 - 116,547,768	RGD	NCBI36
Celera	6	117,183,875 - 117,184,097	RGD
Cytogenetic Map	6	q21-q22	UniSTS
Cytogenetic Map	6	q22.1	UniSTS
HuRef	6	114,021,047 - 114,021,269	UniSTS
GeneMap99-G3 RH Map	6	5176.0	UniSTS

STS-X60382

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	6	q22.1	UniSTS
Cytogenetic Map	6	q21-q22	UniSTS
GeneMap99-GB4 RH Map	6	491.42	UniSTS

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_008032	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NG_021351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000493	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001424106	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001424107	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011535433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017010248	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054354221	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AL050331	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121945	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121963	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC130621	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC130623	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI521533	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA447328	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471051	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M74050	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MN308081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S68531	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S73619	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X58879	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X60382	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X65120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X72578	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X72579	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X72580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X98568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000243222 ⟹ ENSP00000243222

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	116,118,923 - 116,126,133 (-)	Ensembl

Ensembl Acc Id:

ENST00000327673 ⟹ ENSP00000327368

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	116,119,026 - 116,125,900 (-)	Ensembl

Ensembl Acc Id:

ENST00000418500 ⟹ ENSP00000392712

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	116,125,339 - 116,158,747 (-)	Ensembl

Ensembl Acc Id:

ENST00000452729 ⟹ ENSP00000411285

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	116,121,467 - 116,126,120 (-)	Ensembl

Ensembl Acc Id:

ENST00000651968 ⟹ ENSP00000498802

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	116,118,909 - 116,126,132 (-)	Ensembl

RefSeq Acc Id:

NM_000493 ⟹ NP_000484

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	116,118,909 - 116,126,132 (-)	NCBI
GRCh37	6	116,440,085 - 116,447,296 (-)	ENTREZGENE
Build 36	6	116,546,778 - 116,553,989 (-)	NCBI Archive
HuRef	6	114,020,279 - 114,027,493 (-)	ENTREZGENE
CHM1_1	6	116,703,904 - 116,711,118 (-)	NCBI
T2T-CHM13v2.0	6	117,302,889 - 117,310,116 (-)	NCBI

Sequence:

show sequence

ACCTTCTGCACTGCTCATCTGGGCAGAGGAAGCTTCAGAAAGCTGCCAAGGCACCATCTCCAGG
AACTCCCAGCACGCAGAATCCATCTGAGAATATGCTGCCACAAATACCCTTTTTGCTGCTAGTA
TCCTTGAACTTGGTTCATGGAGTGTTTTACGCTGAACGATACCAAATGCCCACAGGCATAAAAG
GCCCACTACCCAACACCAAGACACAGTTCTTCATTCCCTACACCATAAAGAGTAAAGGTATAGC
AGTAAGAGGAGAGCAAGGTACTCCTGGTCCACCAGGCCCTGCTGGACCTCGAGGGCACCCAGGT
CCTTCTGGACCACCAGGAAAACCAGGCTACGGAAGTCCTGGACTCCAAGGAGAGCCAGGGTTGC
CAGGACCACCGGGACCATCAGCTGTAGGGAAACCAGGTGTGCCAGGACTCCCAGGAAAACCAGG
AGAGAGAGGACCATATGGACCAAAAGGAGATGTTGGACCAGCTGGCCTACCAGGACCCCGGGGC
CCACCAGGACCACCTGGAATCCCTGGACCGGCTGGAATTTCTGTGCCAGGAAAACCTGGACAAC
AGGGACCCACAGGAGCCCCAGGACCCAGGGGCTTTCCTGGAGAAAAGGGTGCACCAGGAGTCCC
TGGTATGAATGGACAGAAAGGGGAAATGGGATATGGTGCTCCTGGTCGTCCAGGTGAGAGGGGT
CTTCCAGGCCCTCAGGGTCCCACAGGACCATCTGGCCCTCCTGGAGTGGGAAAAAGAGGTGAAA
ATGGGGTTCCAGGACAGCCAGGCATCAAAGGTGATAGAGGTTTTCCGGGAGAAATGGGACCAAT
TGGCCCACCAGGTCCCCAAGGCCCTCCTGGGGAACGAGGGCCAGAAGGCATTGGAAAGCCAGGA
GCTGCTGGAGCCCCAGGCCAGCCAGGGATTCCAGGAACAAAAGGTCTCCCTGGGGCTCCAGGAA
TAGCTGGGCCCCCAGGGCCTCCTGGCTTTGGGAAACCAGGCTTGCCAGGCCTGAAGGGAGAAAG
AGGACCTGCTGGCCTTCCTGGGGGTCCAGGTGCCAAAGGGGAACAAGGGCCAGCAGGTCTTCCT
GGGAAGCCAGGTCTGACTGGACCCCCTGGGAATATGGGACCCCAAGGACCAAAAGGCATCCCGG
GTAGCCATGGTCTCCCAGGCCCTAAAGGTGAGACAGGGCCAGCTGGGCCTGCAGGATACCCTGG
GGCTAAGGGTGAAAGGGGTTCCCCTGGGTCAGATGGAAAACCAGGGTACCCAGGAAAACCAGGT
CTCGATGGTCCTAAGGGTAACCCAGGGTTACCAGGTCCAAAAGGTGATCCTGGAGTTGGAGGAC
CTCCTGGTCTCCCAGGCCCTGTGGGCCCAGCAGGAGCAAAGGGAATGCCCGGACACAATGGAGA
GGCTGGCCCAAGAGGTGCCCCTGGAATACCAGGTACTAGAGGCCCTATTGGGCCACCAGGCATT
CCAGGATTCCCTGGGTCTAAAGGGGATCCAGGAAGTCCCGGTCCTCCTGGCCCAGCTGGCATAG
CAACTAAGGGCCTCAATGGACCCACCGGGCCACCAGGGCCTCCAGGTCCAAGAGGCCACTCTGG
AGAGCCTGGTCTTCCAGGGCCCCCTGGGCCTCCAGGCCCACCAGGTCAAGCAGTCATGCCTGAG
GGTTTTATAAAGGCAGGCCAAAGGCCCAGTCTTTCTGGGACCCCTCTTGTTAGTGCCAACCAGG
GGGTAACAGGAATGCCTGTGTCTGCTTTTACTGTTATTCTCTCCAAAGCTTACCCAGCAATAGG
AACTCCCATACCATTTGATAAAATTTTGTATAACAGGCAACAGCATTATGACCCAAGGACTGGA
ATCTTTACTTGTCAGATACCAGGAATATACTATTTTTCATACCACGTGCATGTGAAAGGGACTC
ATGTTTGGGTAGGCCTGTATAAGAATGGCACCCCTGTAATGTACACCTATGATGAATACACCAA
AGGCTACCTGGATCAGGCTTCAGGGAGTGCCATCATCGATCTCACAGAAAATGACCAGGTGTGG
CTCCAGCTTCCCAATGCCGAGTCAAATGGCCTATACTCCTCTGAGTATGTCCACTCCTCTTTCT
CAGGATTCCTAGTGGCTCCAATGTGAGTACACACAGAGCTAATCTAAATCTTGTGCTAGAAAAA
GCATTCTCTAACTCTACCCCACCCTACAAAATGCATATGGAGGTAGGCTGAAAAGAATGTAATT
TTTATTTTCTGAAATACAGATTTGAGCTATCAGACCAACAAACCTTCCCCCTGAAAAGTGAGCA
GCAACGTAAAAACGTATGTGAAGCCTCTCTTGAATTTCTAGTTAGCAATCTTAAGGCTCTTTAA
GGTTTTCTCCAATATTAAAAAATATCACCAAAGAAGTCCTGCTATGTTAAAAACAAACAACAAA
AAACAAACAACAAAAAAAAAATTAAAAAAAAAAACAGAAATAGAGCTCTAAGTTATGTGAAATT
TGATTTGAGAAACTCGGCATTTCCTTTTTAAAAAAGCCTGTTTCTAACTATGAATATGAGAACT
TCTAGGAAACATCCAGGAGGTATCATATAACTTTGTAGAACTTAAATACTTGAATATTCAAATT
TAAAAGACACTGTATCCCCTAAAATATTTCTGATGGTGCACTACTCTGAGGCCTGTATGGCCCC
TTTCATCAATATCTATTCAAATATACAGGTGCATATATACTTGTTAAAGCTCTTATATAAAAAA
GCCCCAAAATATTGAAGTTCATCTGAAATGCAAGGTGCTTTCATCAATGAACCTTTTCAAACTT
TTCTATGATTGCAGAGAAGCTTTTTATATACCCAGCATAACTTGGAAACAGGTATCTGACCTAT
TCTTATTTAGTTAACACAAGTGTGATTAATTTGATTTCTTTAATTCCTTATTGAATCTTATGTG
ATATGATTTTCTGGATTTACAGAACATTAGCACATGTACCTTGTGCCTCCCATTCAAGTGAAGT
TATAATTTACACTGAGGGTTTCAAAATTCGACTAGAAGTGGAGATATATTATTTATTTATGCAC
TGTACTGTATTTTTATATTGCTGTTTAAAACTTTTAAGCTGTGCCTCACTTATTAAAGCACAAA
ATGTTTTACCTACTCCTTATTTACGACGCAATAAAATAACATCAATAGATTTTTAGGCTGAATT
AATTTGAAAGCAGCAATTTGCTGTTCTCAACCATTCTTTCAAGGCTTTTCATTGTTCAAAGTTA
ATAAAAAAGTAGGACAATAAAGTGATGGGTGGCTTTTA

hide sequence

RefSeq Acc Id:

NM_001424106 ⟹ NP_001411035

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	116,118,909 - 116,158,772 (-)	NCBI
T2T-CHM13v2.0	6	117,302,889 - 117,342,761 (-)	NCBI

RefSeq Acc Id:

NM_001424107 ⟹ NP_001411036

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	116,118,909 - 116,217,144 (-)	NCBI
T2T-CHM13v2.0	6	117,302,889 - 117,401,128 (-)	NCBI

RefSeq Acc Id:

XM_011535433 ⟹ XP_011533735

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	116,118,909 - 116,209,334 (-)	NCBI

Sequence:

show sequence

AAGCTGGAGTGCAGTGGCATGATCTCTGGCTAACTGCAACCTCCGCCTCCCGGGTTCAAGTGAT
TCTCCTGCCTTAGCCTCCCTAGTAGCTGGGACTACAGGCGTGTGCCACCACGCCCAGCTAACTT
CTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTGCCAGAATGGTCTAATGGTCTTGATCTC
TTGACCTCACAATCCGCCCACTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATG
CCTGGCCAGGAAGAAGAGTCTTTAAGTGAAACAAAAACGAACAAATAAAAACAAAAAACGGTAG
CAAATATTGTGGTCTGCCTCCCCACATCCATCTCCCTCTTTGCTGGGGAGTGCTCTGATATTGT
TTCGGGTTTCATCTTCCTCTGAGGGGGTCTGTGATGCTAGGAAGGGCAAGGGTCTCTATCAGTC
TACACCTATCACAGTTATTCCCTCCTCCTGTCATTGAATTGTTTAGGAAGTGCTGGGGACCCAG
GCATGGCAAATGAGACCTGAGGAGAACTTTGCTGCAGGATCCTGAAGTAATGTATACCACTGAT
AAAAATAAACCTATAAAGGGGGGAATATCCCCTCTTCTACTACTGGACTTTCCCATGATTATAA
ATTCTATGTAGAACTGCAGCGGTTATCATCAACACAAAGCACGAGTCTGATATACCAGAGATGG
CGGAGTGGACATATGAAAGGAAACAAACCTGGGTCCCTGATGACATCACTGGGTTTCTGCTTTT
GTTTCTGTTTTTGAGACAGGGTCTCGCTCTGTTGGCCAGACTGGAGTGCAGTGTGGCACGATCA
TGACTTACTGCAGCCTTAAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGGCCTCTGAAAGTG
CTGTGATTACAGGCATGAGCCACTGTGCCTGGCCACCACTGGATTTCTGATTAAGTCACTGACT
AACTCTAACCACCACTGGAAGTACCATTCAACTTCTGGACAACCTCTGGTTGTGTAAAATAACT
CAATTTAGTAATAGCTTAAACATTAAGGTTATTTATTATTTGCAACTTAAAGCATCATGATTCA
GAAAATATATTGCATGAATATCATAACCAGACCAAAACTAACAAAAGAAATAATATTTTGCAAT
ATGAGAATAATATTTAGAAGACCAAAAACAAAAACAAAGTTTTTGCTCTTTTTATATTTTGCCC
TACAGGAACTTCTGTGTGTGAATCTCTAGGATCTATTTTTAACATGCCAGAGGCTATATAATAG
CCCTTTAAAAAAATTAAAATATATTCTCTGTTTCCCAGGGAAGAGGAAGTACTAGTAAGAAAAG
GTCAGTTTAAGAAACAGATGATAATAATAAATCTAAATGGCTAAGAATAGAGAAGTTTGATGAG
TGGATGACTGCTAATTTCAGAGGCTGTGTCTCTCTCGTAACTTACTATACCTAAGGGAGTCAGA
TGTGAGATTATTTCACTTAGAAAAACAAAGCTTTTGTAGCAAGAAGAATTTTATGGGCTACGTA
AGAAAAAAATTTATAGTGTGTAATGCTGAAAACATAGACTTGCTTTCAGAAAACTTGAGAAAAA
ATTATTTTTTCTTAGCTATATGTGCTTAGTGCCATCTAGTGATCAAAATATAAATTACCATTAA
AAAGCTACTGTTAACATTTCCAAAGGAATAAAAATACAAGGCATACGCATTTAAATACAATATT
TTAAATTTCTTACCTAGGTTAATTGCATTAGTATCTCAATTAATAATGTCTGATTCAAAAGAGT
ACCAATATAATAATTTAATCAGATAAAATTATTCTCTGAAGTCATAACAGAGATGTCCTTGTTT
TGTTCATAAGCCAGACTGAAATGAACAAACTAAAAAAGACAAGCCCTGTACAAACACATACCCA
ATGGTAGATTATGAGTTGCTCTTACTACAAAAGATCACTGTCATGGAGAAAATATTTTTGCCCC
CTTGTAACCTCCAATTATTAAAGGAATAGGAGACATAATTATACAAATAGAAACATCTTTTTAT
TGAAATAAGTCAAGGTATTAAATCAAATGAAGAGTTATGTTAAACATACTACAATGGATTATAA
TTGTCTATTAAATTATATCCCCCAAAGAAACTATAAACTTCTAAAGGCAAGAAATATATCTTTC
TGCTTGGCATGGAGCAAGTATTCAACATATGAATACCTAAATTAGTGCAGGAGCAGACACAGGA
ACATTTATGTTTCCTTACATTCAAGGCAAGAGTATGATTAGTACCATATAGCCAAACTGAAGTG
ATAAAAATAATATTATTCATGTATGATTAAGGCAGCCTATGAAAAAAGTCATGTTTAATTATGA
TACTAATTAACACTGATTGAACAAAATGGAATTTAGACCTAAGATGGAAAGGAGTGGTATTGTT
TGTTCTTAACTCACAAAGAAGCCTGTGTTTTCACTTAACCTCCAAAGGAATTCTATTTCACTGC
CACTTTATGTAACTTATTTTCCTGGTTTTTCCACCACTCTTATATCCTTTGATGCTGATATTTT
CTAGGTCCAGATGAGATTTAAAGGAAATTCTTTTAATAAGCTGATTCTAAGGAATAAAAGTTTA
GCTCTCCTATGTTAAAAAAACTGGTTAATGTAGAGTGACAGAAATAATACCAAAGTGTTGCAAC
AGTCTGATATGCACATCAAATGGCCTGAATACACCAAACAGGATATAGGGACCTCTCGTGGTAA
AAAAGTATAGTACAACCTGAATATTAAAAACAGTTTTTTTCAGTTTAACAGACAATTGTGCCAC
ATCACTATTTCTATCATCACTGAATAAGCTTTTTCTTGTTAACTGTATCACTACTGTTTGCATG
ATTTTTGGCCAGAATTTTCAAAGCTGCTGTCCGAGGGGACTAGAGATGCCAGGATGCTAACACT
TCCATGGTCAGCCTCCAAATAAGGCAAGTACCAGAGGATTCCTAACTACAGAAGTAAGTGTGTG
TGGGAAAAAGCTACCAGGCAAGACTTACCAGGTGACCATAAAGACCAGAGGTTGGCAAACCACA
GCCCACAAGCTAAGAAAGGTGCTTACATCTTAAAATGGTAATAATCCATCTGAGAATATGCTGC
CACAAATACCCTTTTTGCTGCTAGTATCCTTGAACTTGGTTCATGGAGTGTTTTACGCTGAACG
ATACCAAATGCCCACAGGCATAAAAGGCCCACTACCCAACACCAAGACACAGTTCTTCATTCCC
TACACCATAAAGAGTAAAGGTATAGCAGTAAGAGGAGAGCAAGGTACTCCTGGTCCACCAGGCC
CTGCTGGACCTCGAGGGCACCCAGGTCCTTCTGGACCACCAGGAAAACCAGGCTACGGAAGTCC
TGGACTCCAAGGAGAGCCAGGGTTGCCAGGACCACCGGGACCATCAGCTGTAGGGAAACCAGGT
GTGCCAGGACTCCCAGGAAAACCAGGAGAGAGAGGACCATATGGACCAAAAGGAGATGTTGGAC
CAGCTGGCCTACCAGGACCCCGGGGCCCACCAGGACCACCTGGAATCCCTGGACCGGCTGGAAT
TTCTGTGCCAGGAAAACCTGGACAACAGGGACCCACAGGAGCCCCAGGACCCAGGGGCTTTCCT
GGAGAAAAGGGTGCACCAGGAGTCCCTGGTATGAATGGACAGAAAGGGGAAATGGGATATGGTG
CTCCTGGTCGTCCAGGTGAGAGGGGTCTTCCAGGCCCTCAGGGTCCCACAGGACCATCTGGCCC
TCCTGGAGTGGGAAAAAGAGGTGAAAATGGGGTTCCAGGACAGCCAGGCATCAAAGGTGATAGA
GGTTTTCCGGGAGAAATGGGACCAATTGGCCCACCAGGTCCCCAAGGCCCTCCTGGGGAACGAG
GGCCAGAAGGCATTGGAAAGCCAGGAGCTGCTGGAGCCCCAGGCCAGCCAGGGATTCCAGGAAC
AAAAGGTCTCCCTGGGGCTCCAGGAATAGCTGGGCCCCCAGGGCCTCCTGGCTTTGGGAAACCA
GGCTTGCCAGGCCTGAAGGGAGAAAGAGGACCTGCTGGCCTTCCTGGGGGTCCAGGTGCCAAAG
GGGAACAAGGGCCAGCAGGTCTTCCTGGGAAGCCAGGTCTGACTGGACCCCCTGGGAATATGGG
ACCCCAAGGACCAAAAGGCATCCCGGGTAGCCATGGTCTCCCAGGCCCTAAAGGTGAGACAGGG
CCAGCTGGGCCTGCAGGATACCCTGGGGCTAAGGGTGAAAGGGGTTCCCCTGGGTCAGATGGAA
AACCAGGGTACCCAGGAAAACCAGGTCTCGATGGTCCTAAGGGTAACCCAGGGTTACCAGGTCC
AAAAGGTGATCCTGGAGTTGGAGGACCTCCTGGTCTCCCAGGCCCTGTGGGCCCAGCAGGAGCA
AAGGGAATGCCCGGACACAATGGAGAGGCTGGCCCAAGAGGTGCCCCTGGAATACCAGGTACTA
GAGGCCCTATTGGGCCACCAGGCATTCCAGGATTCCCTGGGTCTAAAGGGGATCCAGGAAGTCC
CGGTCCTCCTGGCCCAGCTGGCATAGCAACTAAGGGCCTCAATGGACCCACCGGGCCACCAGGG
CCTCCAGGTCCAAGAGGCCACTCTGGAGAGCCTGGTCTTCCAGGGCCCCCTGGGCCTCCAGGCC
CACCAGGTCAAGCAGTCATGCCTGAGGGTTTTATAAAGGCAGGCCAAAGGCCCAGTCTTTCTGG
GACCCCTCTTGTTAGTGCCAACCAGGGGGTAACAGGAATGCCTGTGTCTGCTTTTACTGTTATT
CTCTCCAAAGCTTACCCAGCAATAGGAACTCCCATACCATTTGATAAAATTTTGTATAACAGGC
AACAGCATTATGACCCAAGGACTGGAATCTTTACTTGTCAGATACCAGGAATATACTATTTTTC
ATACCACGTGCATGTGAAAGGGACTCATGTTTGGGTAGGCCTGTATAAGAATGGCACCCCTGTA
ATGTACACCTATGATGAATACACCAAAGGCTACCTGGATCAGGCTTCAGGGAGTGCCATCATCG
ATCTCACAGAAAATGACCAGGTGTGGCTCCAGCTTCCCAATGCCGAGTCAAATGGCCTATACTC
CTCTGAGTATGTCCACTCCTCTTTCTCAGGATTCCTAGTGGCTCCAATGTGAGTACACACAGAG
CTAATCTAAATCTTGTGCTAGAAAAAGCATTCTCTAACTCTACCCCACCCTACAAAATGCATAT
GGAGGTAGGCTGAAAAGAATGTAATTTTTATTTTCTGAAATACAGATTTGAGCTATCAGACCAA
CAAACCTTCCCCCTGAAAAGTGAGCAGCAACGTAAAAACGTATGTGAAGCCTCTCTTGAATTTC
TAGTTAGCAATCTTAAGGCTCTTTAAGGTTTTCTCCAATATTAAAAAATATCACCAAAGAAGTC
CTGCTATGTTAAAAACAAACAACAAAAAACAAACAACAAAAAAAAAATTAAAAAAAAAAACAGA
AATAGAGCTCTAAGTTATGTGAAATTTGATTTGAGAAACTCGGCATTTCCTTTTTAAAAAAGCC
TGTTTCTAACTATGAATATGAGAACTTCTAGGAAACATCCAGGAGGTATCATATAACTTTGTAG
AACTTAAATACTTGAATATTCAAATTTAAAAGACACTGTATCCCCTAAAATATTTCTGATGGTG
CACTACTCTGAGGCCTGTATGGCCCCTTTCATCAATATCTATTCAAATATACAGGTGCATATAT
ACTTGTTAAAGCTCTTATATAAAAAAGCCCCAAAATATTGAAGTTCATCTGAAATGCAAGGTGC
TTTCATCAATGAACCTTTTCAAACTTTTCTATGATTGCAGAGAAGCTTTTTATATACCCAGCAT
AACTTGGAAACAGGTATCTGACCTATTCTTATTTAGTTAACACAAGTGTGATTAATTTGATTTC
TTTAATTCCTTATTGAATCTTATGTGATATGATTTTCTGGATTTACAGAACATTAGCACATGTA
CCTTGTGCCTCCCATTCAAGTGAAGTTATAATTTACACTGAGGGTTTCAAAATTCGACTAGAAG
TGGAGATATATTATTTATTTATGCACTGTACTGTATTTTTATATTGCTGTTTAAAACTTTTAAG
CTGTGCCTCACTTATTAAAGCACAAAATGTTTTACCTACTCCTTATTTACGACGCAATAAAATA
ACATCAATAGATTTTTAGGCTGAATTAATTTGAAAGCAGCAATTTGCTGTTCTCAACCATTCTT
TCAAGGCTTTTCATTGTTCAAAGTTAATAAAAAAGTAGGACAATAAAGTGATGGGTGGCTTTTA

hide sequence

RefSeq Acc Id:

XM_054354221 ⟹ XP_054210196

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	117,302,889 - 117,393,317 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_000484	(Get FASTA)	NCBI Sequence Viewer
	NP_001411035	(Get FASTA)	NCBI Sequence Viewer
	NP_001411036	(Get FASTA)	NCBI Sequence Viewer
	XP_011533735	(Get FASTA)	NCBI Sequence Viewer
	XP_054210196	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA61221	(Get FASTA)	NCBI Sequence Viewer
	AAB31113	(Get FASTA)	NCBI Sequence Viewer
	AAC60615	(Get FASTA)	NCBI Sequence Viewer
	AAI30622	(Get FASTA)	NCBI Sequence Viewer
	AAI30624	(Get FASTA)	NCBI Sequence Viewer
	CAA41686	(Get FASTA)	NCBI Sequence Viewer
	CAA42933	(Get FASTA)	NCBI Sequence Viewer
	CAA46236	(Get FASTA)	NCBI Sequence Viewer
	CAA51170	(Get FASTA)	NCBI Sequence Viewer
	CAA67178	(Get FASTA)	NCBI Sequence Viewer
	EAW48240	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000243222.4
	ENSP00000327368
	ENSP00000327368.4
	ENSP00000392712.1
	ENSP00000411285.1
	ENSP00000498802
	ENSP00000498802.1
GenBank Protein	Q03692	(Get FASTA)	NCBI Sequence Viewer
	QGQ32965	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_000484 ⟸ NM_000493
- Peptide Label:	precursor
- UniProtKB:	A1L4P2 (UniProtKB/Swiss-Prot), Q03692 (UniProtKB/Swiss-Prot), A0A650AXN9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLPQIPFLLLVSLNLVHGVFYAERYQMPTGIKGPLPNTKTQFFIPYTIKSKGIAVRGEQGTPGP PGPAGPRGHPGPSGPPGKPGYGSPGLQGEPGLPGPPGPSAVGKPGVPGLPGKPGERGPYGPKGD VGPAGLPGPRGPPGPPGIPGPAGISVPGKPGQQGPTGAPGPRGFPGEKGAPGVPGMNGQKGEMG YGAPGRPGERGLPGPQGPTGPSGPPGVGKRGENGVPGQPGIKGDRGFPGEMGPIGPPGPQGPPG ERGPEGIGKPGAAGAPGQPGIPGTKGLPGAPGIAGPPGPPGFGKPGLPGLKGERGPAGLPGGPG AKGEQGPAGLPGKPGLTGPPGNMGPQGPKGIPGSHGLPGPKGETGPAGPAGYPGAKGERGSPGS DGKPGYPGKPGLDGPKGNPGLPGPKGDPGVGGPPGLPGPVGPAGAKGMPGHNGEAGPRGAPGIP GTRGPIGPPGIPGFPGSKGDPGSPGPPGPAGIATKGLNGPTGPPGPPGPRGHSGEPGLPGPPGP PGPPGQAVMPEGFIKAGQRPSLSGTPLVSANQGVTGMPVSAFTVILSKAYPAIGTPIPFDKILY NRQQHYDPRTGIFTCQIPGIYYFSYHVHVKGTHVWVGLYKNGTPVMYTYDEYTKGYLDQASGSA IIDLTENDQVWLQLPNAESNGLYSSEYVHSSFSGFLVAPM hide sequence

RefSeq Acc Id:	XP_011533735 ⟸ XM_011535433
- Peptide Label:	isoform X1
- UniProtKB:	A1L4P2 (UniProtKB/Swiss-Prot), Q03692 (UniProtKB/Swiss-Prot), A0A650AXN9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLPQIPFLLLVSLNLVHGVFYAERYQMPTGIKGPLPNTKTQFFIPYTIKSKGIAVRGEQGTPGP PGPAGPRGHPGPSGPPGKPGYGSPGLQGEPGLPGPPGPSAVGKPGVPGLPGKPGERGPYGPKGD VGPAGLPGPRGPPGPPGIPGPAGISVPGKPGQQGPTGAPGPRGFPGEKGAPGVPGMNGQKGEMG YGAPGRPGERGLPGPQGPTGPSGPPGVGKRGENGVPGQPGIKGDRGFPGEMGPIGPPGPQGPPG ERGPEGIGKPGAAGAPGQPGIPGTKGLPGAPGIAGPPGPPGFGKPGLPGLKGERGPAGLPGGPG AKGEQGPAGLPGKPGLTGPPGNMGPQGPKGIPGSHGLPGPKGETGPAGPAGYPGAKGERGSPGS DGKPGYPGKPGLDGPKGNPGLPGPKGDPGVGGPPGLPGPVGPAGAKGMPGHNGEAGPRGAPGIP GTRGPIGPPGIPGFPGSKGDPGSPGPPGPAGIATKGLNGPTGPPGPPGPRGHSGEPGLPGPPGP PGPPGQAVMPEGFIKAGQRPSLSGTPLVSANQGVTGMPVSAFTVILSKAYPAIGTPIPFDKILY NRQQHYDPRTGIFTCQIPGIYYFSYHVHVKGTHVWVGLYKNGTPVMYTYDEYTKGYLDQASGSA IIDLTENDQVWLQLPNAESNGLYSSEYVHSSFSGFLVAPM hide sequence

Ensembl Acc Id:

ENSP00000411285 ⟸ ENST00000452729

Ensembl Acc Id:

ENSP00000243222 ⟸ ENST00000243222

Ensembl Acc Id:

ENSP00000498802 ⟸ ENST00000651968

Ensembl Acc Id:

ENSP00000392712 ⟸ ENST00000418500

Ensembl Acc Id:

ENSP00000327368 ⟸ ENST00000327673

RefSeq Acc Id:	XP_054210196 ⟸ XM_054354221
- Peptide Label:	isoform X1
- UniProtKB:	Q03692 (UniProtKB/Swiss-Prot), A1L4P2 (UniProtKB/Swiss-Prot), A0A650AXN9 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001411036 ⟸ NM_001424107
- Peptide Label:	precursor
- UniProtKB:	Q03692 (UniProtKB/Swiss-Prot), A1L4P2 (UniProtKB/Swiss-Prot), A0A650AXN9 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001411035 ⟸ NM_001424106
- Peptide Label:	precursor
- UniProtKB:	Q03692 (UniProtKB/Swiss-Prot), A1L4P2 (UniProtKB/Swiss-Prot), A0A650AXN9 (UniProtKB/TrEMBL)

Protein Domains

C1q

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q03692-F1-model_v2	AlphaFold	Q03692	1-680	view protein structure

Promoters

RGD ID:

7208945

Promoter ID:

EPDNEW_H10217

Type:

initiation region

Name:

COL10A1_1

Description:

collagen type X alpha 1 chain

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H10218 EPDNEW_H10219

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	116,126,132 - 116,126,192	EPDNEW

RGD ID:

7208943

Promoter ID:

EPDNEW_H10218

Type:

initiation region

Name:

COL10A1_2

Description:

collagen type X alpha 1 chain

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H10217 EPDNEW_H10219

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	116,158,755 - 116,158,815	EPDNEW

RGD ID:

7208947

Promoter ID:

EPDNEW_H10219

Type:

initiation region

Name:

COL10A1_3

Description:

collagen type X alpha 1 chain

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H10218 EPDNEW_H10217

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	116,217,132 - 116,217,192	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:2185	AgrOrtholog
COSMIC	COL10A1	COSMIC
Ensembl Genes	ENSG00000123500	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000243222.8	UniProtKB/Swiss-Prot
	ENST00000327673	ENTREZGENE
	ENST00000327673.4	UniProtKB/Swiss-Prot
	ENST00000418500.1	UniProtKB/TrEMBL
	ENST00000452729.1	UniProtKB/TrEMBL
	ENST00000651968	ENTREZGENE
	ENST00000651968.1	UniProtKB/Swiss-Prot
Gene3D-CATH	2.60.120.40	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000123500	GTEx
HGNC ID	HGNC:2185	ENTREZGENE
Human Proteome Map	COL10A1	Human Proteome Map
InterPro	C1q_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Collagen	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Collagen/C1q_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Collagen_superfamily	UniProtKB/TrEMBL
	Tumour_necrosis_fac-like_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:1300	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	1300	ENTREZGENE
OMIM	120110	OMIM
PANTHER	COLLAGEN ALPHA	UniProtKB/TrEMBL
	COLLAGEN ALPHA-1(X) CHAIN	UniProtKB/TrEMBL
	EMI DOMAIN-CONTAINING PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EMILIN ELASTIN MICROFIBRIL INTERFACE-LOCATED PROTEIN ELASTIN MICROFIBRIL INTERFACER	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	C1q	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Collagen	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA26701	PharmGKB
PRINTS	COMPLEMNTC1Q	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	C1Q	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	C1Q	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF49842	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A650AXN9	ENTREZGENE, UniProtKB/TrEMBL
	A1L4P2	ENTREZGENE
	COAA1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q5QPC7_HUMAN	UniProtKB/TrEMBL
	Q5QPC8_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	A1L4P2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-05-31	COL10A1	collagen type X alpha 1 chain	COL10A1	collagen type X alpha 1	Symbol and/or name change	5135510	APPROVED
2016-01-26	COL10A1	collagen type X alpha 1	COL10A1	collagen, type X, alpha 1	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 - MGI

Imported Disease Annotations - OMIM

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar