TBX4 (T-box transcription factor 4)

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Gene: TBX4 (T-box transcription factor 4) Homo sapiens

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Symbol:

TBX4

Name:

T-box transcription factor 4

RGD ID:

1319185

HGNC Page

HGNC:11603

Description:

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in embryonic hindlimb morphogenesis; embryonic lung development; and skeletal system morphogenesis. Predicted to be part of chromatin. Predicted to be active in nucleus. Implicated in arthropathy and ischiocoxopodopatellar syndrome.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ICPPS; PAPPAS; SPS; T-box 4; T-box protein 4; T-box transcription factor TBX4

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Tbx4 (T-box 4)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Tbx4 (T-box transcription factor 4)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Tbx4 (T-box transcription factor 4)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TBX4 (T-box transcription factor 4)	NCBI	Ortholog
Canis lupus familiaris (dog):	TBX4 (T-box transcription factor 4)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tbx4 (T-box transcription factor 4)	NCBI	Ortholog
Sus scrofa (pig):	TBX4 (T-box transcription factor 4)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TBX4 (T-box transcription factor 4)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tbx4 (T-box transcription factor 4)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Tnnt1 (troponin T1, slow skeletal type)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tbx4 (T-box transcription factor 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tbx4 (T-box 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tbx4 (T-box 4)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	tbx-38	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Caenorhabditis elegans (roundworm):	tbx-40	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Caenorhabditis elegans (roundworm):	tbx-37	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Caenorhabditis elegans (roundworm):	sea-1	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Xenopus laevis (African clawed frog):	tbx4.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	tbx4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	tbx4.L	Alliance	DIOPT (Xenbase)

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	17	61,452,422 - 61,485,110 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	61,452,404 - 61,485,110 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	59,529,783 - 59,562,471 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	56,888,589 - 56,916,446 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	56,888,588 - 56,916,446	NCBI
Celera	17	58,634,841 - 58,662,701 (+)	NCBI		Celera
Cytogenetic Map	17	q23.2	NCBI
HuRef	17	54,900,265 - 54,928,130 (+)	NCBI		HuRef
CHM1_1	17	59,598,306 - 59,626,165 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	62,321,267 - 62,353,953 (+)	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

Amelia, Autosomal Recessive (IAGP)

arthropathy (IAGP)

cone-rod dystrophy (IAGP)

genetic disease (IAGP)

hydronephrosis (IAGP)

ischiocoxopodopatellar syndrome (EXP,IAGP)

Joubert syndrome 1 (IAGP)

Lung Agenesis (IAGP)

megacolon (IAGP)

primary pulmonary hypertension 1 (IAGP)

Pulmonary Arterial Hypertension (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol 3-benzoate (ISO)

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

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

aldehydo-D-glucose (ISO)

amiodarone (EXP)

amosite asbestos (EXP)

amphetamine (ISO)

bisphenol A (ISO)

C60 fullerene (ISO)

cadmium atom (EXP)

carbon nanotube (ISO)

chlorpyrifos (ISO)

crocidolite asbestos (EXP)

D-glucose (ISO)

dibenz[a,h]anthracene (ISO)

endosulfan (ISO)

fructose (ISO)

glucose (ISO)

glycidol (ISO)

glyphosate (ISO)

leflunomide (EXP)

nitrofen (ISO)

ozone (ISO)

pioglitazone (ISO)

pirinixic acid (ISO)

resveratrol (EXP)

SB 431542 (EXP)

serpentine asbestos (EXP)

silicon dioxide (EXP)

sodium arsenate (ISO)

sodium arsenite (ISO)

sotorasib (EXP)

trametinib (EXP)

trichloroethene (ISO)

triptonide (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

angiogenesis (IBA,IEA,ISO)

cell fate specification (IBA)

embryonic hindlimb morphogenesis (IMP)

embryonic limb morphogenesis (IEA,ISO)

embryonic lung development (IMP)

limb morphogenesis (IEA,IMP,ISO)

lung development (IEA,ISO)

morphogenesis of an epithelium (IEA,ISO)

positive regulation of DNA-templated transcription (IEA)

regulation of transcription by RNA polymerase II (IBA)

skeletal system morphogenesis (IMP)

Cellular Component

chromatin (IBA,ISA)

nucleus (IBA,IEA)

Molecular Function

DNA binding (IEA,NAS)

DNA-binding transcription factor activity (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,ISA)

protein binding (ISO)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA,IEA)

sequence-specific double-stranded DNA binding (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal epiphysis morphology (IAGP)

Abnormal nail morphology (IAGP)

Abnormal pelvic girdle bone morphology (IAGP)

Abnormality of prenatal development or birth (IAGP)

Abnormality of the knee (IAGP)

Absence of the sacrum (IAGP)

Amelia (IAGP)

Aplasia/hypoplasia involving bones of the lower limbs (IAGP)

Aplasia/Hypoplasia of the patella (IAGP)

Atrial septal defect (IAGP)

Atypical behavior (IAGP)

Autosomal dominant inheritance (IAGP)

Autosomal recessive inheritance (IAGP)

Bifid nose (IAGP)

Bilateral single transverse palmar creases (IAGP)

Blepharitis (IAGP)

Bulbous nose (IAGP)

Chronic otitis media (IAGP)

Cleft palate (IAGP)

Clinodactyly of the 5th finger (IAGP)

Cone/cone-rod dystrophy (IAGP)

Congenital contracture (IAGP)

Coxa magna (IAGP)

Coxa vara (IAGP)

Delayed speech and language development (IAGP)

Depressed nasal bridge (IAGP)

Dyspnea (IAGP)

Epicanthus (IAGP)

Failure to thrive (IAGP)

Flat capital femoral epiphysis (IAGP)

Frontal bossing (IAGP)

Gastroesophageal reflux (IAGP)

Hearing impairment (IAGP)

High palate (IAGP)

Highly arched eyebrow (IAGP)

Hip dysplasia (IAGP)

Hydronephrosis (IAGP)

Hydroureter (IAGP)

Hyperreflexia (IAGP)

Hypertelorism (IAGP)

Hypoplasia of the lesser trochanter (IAGP)

Hypoplastic left heart (IAGP)

Hypoplastic toenails (IAGP)

Hypotonia (IAGP)

Intrauterine growth retardation (IAGP)

Limitation of joint mobility (IAGP)

Long eyelashes (IAGP)

Long fingers (IAGP)

Long toe (IAGP)

Malar flattening (IAGP)

Megacolon (IAGP)

Microcephaly (IAGP)

Micrognathia (IAGP)

Mild global developmental delay (IAGP)

Moderate global developmental delay (IAGP)

Narrow mouth (IAGP)

Patellar aplasia (IAGP)

Patellar dislocation (IAGP)

Patellar hypoplasia (IAGP)

Patent ductus arteriosus (IAGP)

Pes planus (IAGP)

Protruding ear (IAGP)

Pulmonary arterial hypertension (IAGP)

Pulmonary hypoplasia (IAGP)

Rod-cone dystrophy (IAGP)

Sacral dimple (IAGP)

Sandal gap (IAGP)

Scoliosis (IAGP)

Shallow acetabular fossae (IAGP)

Shawl scrotum (IAGP)

Short femur (IAGP)

Short stature (IAGP)

Strabismus (IAGP)

Talipes equinovarus (IAGP)

Talocalcaneal synostosis (IAGP)

Tarsal synostosis (IAGP)

Wide capital femoral epiphyses (IAGP)

Widely spaced teeth (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Mutations in the human TBX4 gene cause small patella syndrome.	Bongers EM, etal., Am J Hum Genet. 2004 Jun;74(6):1239-48. Epub 2004 Apr 21.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:8878690	PMID:10199965	PMID:10945475	PMID:12477932	PMID:15231748	PMID:18391951	PMID:19274049	PMID:19453261	PMID:19893584	PMID:20301658	PMID:20546612	PMID:20634891
PMID:20887794	PMID:21271665	PMID:21873635	PMID:21954337	PMID:22678995	PMID:23592887	PMID:24592505	PMID:24927568	PMID:25429064	PMID:26354767	PMID:27374786	PMID:27400124
PMID:27453251	PMID:28971975	PMID:29120062	PMID:30290780	PMID:30578383	PMID:30639323	PMID:31151956	PMID:31182584	PMID:31761294	PMID:32079640	PMID:32195678	PMID:32348326
PMID:32518174	PMID:33066286	PMID:33478486	PMID:33536335	PMID:35216193	PMID:36360195	PMID:37801629	PMID:38191808

Genomics

Comparative Map Data

TBX4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	61,452,422 - 61,485,110 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	61,452,404 - 61,485,110 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	59,529,783 - 59,562,471 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	56,888,589 - 56,916,446 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	56,888,588 - 56,916,446	NCBI
Celera	17	58,634,841 - 58,662,701 (+)	NCBI		Celera
Cytogenetic Map	17	q23.2	NCBI
HuRef	17	54,900,265 - 54,928,130 (+)	NCBI		HuRef
CHM1_1	17	59,598,306 - 59,626,165 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	62,321,267 - 62,353,953 (+)	NCBI		T2T-CHM13v2.0

Tbx4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	85,777,193 - 85,806,923 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	85,777,248 - 85,806,923 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	85,886,367 - 85,916,097 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	85,886,422 - 85,916,097 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	85,703,565 - 85,729,599 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	85,706,258 - 85,730,940 (+)	NCBI		MGSCv36	mm8
Celera	11	95,517,399 - 95,543,455 (+)	NCBI		Celera
Cytogenetic Map	11	C	NCBI
cM Map	11	51.42	NCBI

Tbx4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	71,228,145 - 71,258,222 (+)	NCBI		GRCr8
mRatBN7.2	10	70,730,686 - 70,760,829 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	70,731,163 - 70,760,825 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	75,351,118 - 75,380,785 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	74,855,915 - 74,885,582 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	70,320,562 - 70,350,228 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	73,331,864 - 73,362,784 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	73,333,119 - 73,362,783 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	73,235,103 - 73,265,118 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	74,136,416 - 74,166,080 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	74,154,279 - 74,179,007 (+)	NCBI
Celera	10	69,654,749 - 69,684,469 (+)	NCBI		Celera
Cytogenetic Map	10	q26	NCBI

Tbx4
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955451	2,501,827 - 2,533,136 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955451	2,491,525 - 2,532,948 (+)	NCBI	ChiLan1.0	ChiLan1.0

TBX4
(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	19	77,651,294 - 77,684,008 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	82,462,735 - 82,495,443 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	55,554,549 - 55,587,253 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	60,677,518 - 60,706,206 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	60,677,518 - 60,705,413 (+)	Ensembl	panpan1.1		panPan2

TBX4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	35,163,346 - 35,197,726 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	35,166,353 - 35,191,932 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	34,395,807 - 34,421,394 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	35,972,610 - 36,007,370 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	35,977,705 - 36,003,297 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	34,758,715 - 34,784,294 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	35,044,477 - 35,070,057 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	35,132,002 - 35,157,583 (-)	NCBI		UU_Cfam_GSD_1.0

Tbx4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405602	34,221,462 - 34,247,634 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936490	2,827,416 - 2,852,917 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936490	2,823,531 - 2,853,282 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TBX4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	36,802,354 - 36,834,327 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	36,803,355 - 36,830,321 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	38,224,618 - 38,257,155 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TBX4
(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	16	32,677,878 - 32,715,169 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	32,683,921 - 32,711,674 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666077	3,430,924 - 3,463,642 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tbx4
(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_004624871	2,366,823 - 2,390,269 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624871	2,365,836 - 2,390,269 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TBX4
230 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala)	single nucleotide variant	Coxopodopatellar syndrome [RCV001544551]\|Pulmonary hypertension, primary, 1 [RCV001826389]	Chr17:61465829 [GRCh38] Chr17:59543190 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.743G>T (p.Gly248Val)	single nucleotide variant	Coxopodopatellar syndrome [RCV000008305]	Chr17:61479921 [GRCh38] Chr17:59557282 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.184C>T (p.Gln62Ter)	single nucleotide variant	Coxopodopatellar syndrome [RCV000008306]	Chr17:61456674 [GRCh38] Chr17:59534035 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg)	single nucleotide variant	Coxopodopatellar syndrome [RCV000008307]	Chr17:61483470 [GRCh38] Chr17:59560831 [GRCh37] Chr17:17q23.2	pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	copy number gain	See cases [RCV000050957]	Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2	pathogenic
GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1	copy number loss	See cases [RCV000051259]	Chr17:60043448..62148729 [GRCh38] Chr17:58120809..60226090 [GRCh37] Chr17:55475591..57580872 [NCBI36] Chr17:17q23.1-23.2	pathogenic
GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1	copy number loss	See cases [RCV000051161]	Chr17:60095339..62237942 [GRCh38] Chr17:58172700..60315303 [GRCh37] Chr17:55527482..57670085 [NCBI36] Chr17:17q23.1-23.2	pathogenic
GRCh37/hg19 17q23(chr17:58934659-60395826)x1	copy number loss	See cases [RCV000051211]	Chr17:58934659..60395826 [GRCh37] Chr17:56289441..57750608 [NCBI36] Chr17:17q23	pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|See cases [RCV000052483]	Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3	pathogenic
GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	copy number gain	See cases [RCV000052485]	Chr17:59209629..64222315 [GRCh37] Chr17:56564411..61652777 [NCBI36] Chr17:17q23-24	pathogenic
NM_018488.2(TBX4):c.985G>A (p.Asp329Asn)	single nucleotide variant	Malignant melanoma [RCV000063269]	Chr17:61480283 [GRCh38] Chr17:59557644 [GRCh37] Chr17:56912426 [NCBI36] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.1077del (p.Ser360fs)	deletion	Pulmonary arterial hypertension associated with congenital heart disease [RCV000664177]	Chr17:61482948 [GRCh38] Chr17:59560309 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.702+1G>A	single nucleotide variant	Pulmonary arterial hypertension associated with congenital heart disease [RCV000664178]\|Pulmonary hypertension, primary, 1 [RCV001829824]\|TBX4-related disorder [RCV004547833]\|not provided [RCV000660521]	Chr17:61478780 [GRCh38] Chr17:59556141 [GRCh37] Chr17:17q23.2	pathogenic\|likely pathogenic\|uncertain significance
NM_001321120.2(TBX4):c.1115del (p.Pro372fs)	deletion	Pulmonary arterial hypertension associated with congenital heart disease [RCV000664179]\|Pulmonary hypertension, primary, 1 [RCV001829825]\|not provided [RCV002530597]	Chr17:61482984 [GRCh38] Chr17:59560345 [GRCh37] Chr17:17q23.2	pathogenic\|likely pathogenic\|uncertain significance
NM_001321120.2(TBX4):c.293C>G (p.Pro98Arg)	single nucleotide variant	Pulmonary arterial hypertension associated with congenital heart disease [RCV000664176]	Chr17:61465830 [GRCh38] Chr17:59543191 [GRCh37] Chr17:17q23.2	likely pathogenic
GRCh38/hg38 17q23.2(chr17:60255192-62237942)x1	copy number loss	See cases [RCV000135803]	Chr17:60255192..62237942 [GRCh38] Chr17:58332553..60315303 [GRCh37] Chr17:55687335..57670085 [NCBI36] Chr17:17q23.2	pathogenic\|likely pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	copy number gain	See cases [RCV000137437]	Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1	pathogenic
NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg)	single nucleotide variant	Coxopodopatellar syndrome [RCV000984864]\|Pulmonary hypertension, primary, 1 [RCV000258934]	Chr17:61478634 [GRCh38] Chr17:59555995 [GRCh37] Chr17:17q23.2	pathogenic\|uncertain significance
NM_001321120.2(TBX4):c.402-8G>A	single nucleotide variant	Autosomal recessive amelia [RCV001815269]\|Coxopodopatellar syndrome [RCV000393613]\|not provided [RCV001668560]\|not specified [RCV000244217]	Chr17:61467502 [GRCh38] Chr17:59544863 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.941C>T (p.Ala314Val)	single nucleotide variant	Coxopodopatellar syndrome [RCV000320885]\|not provided [RCV001689888]\|not specified [RCV000249399]	Chr17:61480239 [GRCh38] Chr17:59557600 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.1449C>T (p.Val483=)	single nucleotide variant	Coxopodopatellar syndrome [RCV000396021]\|not provided [RCV001723853]\|not specified [RCV000252435]	Chr17:61483324 [GRCh38] Chr17:59560685 [GRCh37] Chr17:17q23.2	benign
GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	copy number gain	See cases [RCV000240364]	Chr17:56321134..62080001 [GRCh37] Chr17:17q22-23.3	pathogenic
NM_001321120.2(TBX4):c.709C>T (p.Gln237Ter)	single nucleotide variant	not provided [RCV000521634]	Chr17:61479887 [GRCh38] Chr17:59557248 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.*98GT[24]	microsatellite	Coxopodopatellar syndrome [RCV000302661]\|not provided [RCV001683305]	Chr17:61483613..61483614 [GRCh38] Chr17:59560974..59560975 [GRCh37] Chr17:17q23.2	benign\|uncertain significance
NM_001321120.2(TBX4):c.172G>A (p.Ala58Thr)	single nucleotide variant	Coxopodopatellar syndrome [RCV000287501]	Chr17:61456662 [GRCh38] Chr17:59534023 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val)	single nucleotide variant	Coxopodopatellar syndrome [RCV000290587]\|Pulmonary hypertension, primary, 1 [RCV001828322]	Chr17:61482948 [GRCh38] Chr17:59560309 [GRCh37] Chr17:17q23.2	likely benign\|uncertain significance\|not provided
NM_001321120.2(TBX4):c.*138A>G	single nucleotide variant	Coxopodopatellar syndrome [RCV000292848]\|not provided [RCV001690074]	Chr17:61483654 [GRCh38] Chr17:59561015 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.1515G>A (p.Lys505=)	single nucleotide variant	Coxopodopatellar syndrome [RCV000293101]\|not provided [RCV000971814]	Chr17:61483390 [GRCh38] Chr17:59560751 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.759T>A (p.Asp253Glu)	single nucleotide variant	Coxopodopatellar syndrome [RCV000259583]\|not provided [RCV003765881]	Chr17:61479937 [GRCh38] Chr17:59557298 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.*7C>T	single nucleotide variant	Coxopodopatellar syndrome [RCV000296936]\|TBX4-related disorder [RCV004549717]\|not provided [RCV004709715]	Chr17:61483523 [GRCh38] Chr17:59560884 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.17G>C (p.Gly6Ala)	single nucleotide variant	Coxopodopatellar syndrome [RCV000342728]\|not provided [RCV001613043]	Chr17:61456507 [GRCh38] Chr17:61456507..61456508 [GRCh38] Chr17:59533868 [GRCh37] Chr17:59533868..59533869 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.703-8C>T	single nucleotide variant	Coxopodopatellar syndrome [RCV000356665]\|not provided [RCV000883458]	Chr17:61479873 [GRCh38] Chr17:59557234 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.*98GT[26]	microsatellite	Coxopodopatellar syndrome [RCV000267442]\|not provided [RCV001534539]	Chr17:61483613..61483614 [GRCh38] Chr17:59560974..59560975 [GRCh37] Chr17:17q23.2	benign\|uncertain significance
NM_001321120.2(TBX4):c.*661G>A	single nucleotide variant	Coxopodopatellar syndrome [RCV000281258]	Chr17:61484177 [GRCh38] Chr17:59561538 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.*99T>A	single nucleotide variant	Coxopodopatellar syndrome [RCV000273118]	Chr17:61483615 [GRCh38] Chr17:59560976 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.187-15C>T	single nucleotide variant	Coxopodopatellar syndrome [RCV000344769]\|not provided [RCV004709714]	Chr17:61457522 [GRCh38] Chr17:59534883 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.276T>G (p.Ala92=)	single nucleotide variant	Coxopodopatellar syndrome [RCV000314981]\|not provided [RCV001675821]\|not specified [RCV000455356]	Chr17:61457626 [GRCh38] Chr17:59534987 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.335A>G (p.Lys112Arg)	single nucleotide variant	Coxopodopatellar syndrome [RCV000367202]\|Inborn genetic diseases [RCV003168479]	Chr17:61465872 [GRCh38] Chr17:59543233 [GRCh37] Chr17:17q23.2	likely benign\|uncertain significance
NM_001321120.2(TBX4):c.1524G>A (p.Ser508=)	single nucleotide variant	Coxopodopatellar syndrome [RCV000350420]\|not provided [RCV002524433]	Chr17:61483399 [GRCh38] Chr17:59560760 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.*722C>A	single nucleotide variant	Coxopodopatellar syndrome [RCV000398413]	Chr17:61484238 [GRCh38] Chr17:59561599 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.1623G>A (p.Glu541=)	single nucleotide variant	Coxopodopatellar syndrome [RCV000399441]\|not provided [RCV000949006]	Chr17:61483498 [GRCh38] Chr17:59560859 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.*327G>A	single nucleotide variant	Coxopodopatellar syndrome [RCV000279851]\|not provided [RCV004709717]	Chr17:61483843 [GRCh38] Chr17:59561204 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.1086G>C (p.Val362=)	single nucleotide variant	Coxopodopatellar syndrome [RCV000329274]\|not provided [RCV000934130]	Chr17:61482961 [GRCh38] Chr17:59560322 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.104C>T (p.Ala35Val)	single nucleotide variant	Coxopodopatellar syndrome [RCV000284332]\|not provided [RCV000952761]	Chr17:61456594 [GRCh38] Chr17:59533955 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.24C>T (p.Ser8=)	single nucleotide variant	Coxopodopatellar syndrome [RCV000376475]\|TBX4-related disorder [RCV004549714]	Chr17:61456514 [GRCh38] Chr17:59533875 [GRCh37] Chr17:17q23.2	benign\|likely benign\|uncertain significance
NM_001321120.2(TBX4):c.*98GT[27]	microsatellite	Coxopodopatellar syndrome [RCV000327166]\|not provided [RCV001636914]	Chr17:61483613..61483614 [GRCh38] Chr17:59560974..59560975 [GRCh37] Chr17:17q23.2	benign\|uncertain significance
NM_001321120.2(TBX4):c.16G>A (p.Gly6Ser)	single nucleotide variant	Coxopodopatellar syndrome [RCV000285413]\|TBX4-related disorder [RCV004549713]\|not provided [RCV000969924]	Chr17:61456506 [GRCh38] Chr17:59533867 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.1005C>T (p.His335=)	single nucleotide variant	Coxopodopatellar syndrome [RCV000377806]\|not provided [RCV003409510]	Chr17:61480303 [GRCh38] Chr17:59557664 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.*98GT[25]	microsatellite	Coxopodopatellar syndrome [RCV000362091]\|not provided [RCV001534565]	Chr17:61483613..61483614 [GRCh38] Chr17:59560974..59560975 [GRCh37] Chr17:17q23.2	benign\|uncertain significance
NM_001321120.2(TBX4):c.1217C>G (p.Ser406Cys)	single nucleotide variant	Coxopodopatellar syndrome [RCV000289412]\|TBX4-related disorder [RCV004549716]\|not provided [RCV000906439]	Chr17:61483092 [GRCh38] Chr17:59560453 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.*313A>C	single nucleotide variant	Coxopodopatellar syndrome [RCV000388254]	Chr17:61483829 [GRCh38] Chr17:59561190 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.*25G>A	single nucleotide variant	Coxopodopatellar syndrome [RCV000356397]\|not provided [RCV004709716]	Chr17:61483541 [GRCh38] Chr17:59560902 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.1158G>A (p.Glu386=)	single nucleotide variant	Coxopodopatellar syndrome [RCV000381426]\|not provided [RCV003718189]	Chr17:61483033 [GRCh38] Chr17:59560394 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.*98GT[21]	microsatellite	Coxopodopatellar syndrome [RCV000400825]\|not provided [RCV001690073]	Chr17:61483613..61483614 [GRCh38] Chr17:59560974..59560975 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.921C>T (p.Asn307=)	single nucleotide variant	Coxopodopatellar syndrome [RCV000360546]\|TBX4-related disorder [RCV004739685]\|not provided [RCV000975801]	Chr17:61480219 [GRCh38] Chr17:59557580 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.622G>A (p.Gly208Ser)	single nucleotide variant	Coxopodopatellar syndrome [RCV000299534]	Chr17:61478699 [GRCh38] Chr17:59556060 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.249G>A (p.Ala83=)	single nucleotide variant	Coxopodopatellar syndrome [RCV000402371]\|not provided [RCV000959772]	Chr17:61457599 [GRCh38] Chr17:59534960 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.791+11G>A	single nucleotide variant	Coxopodopatellar syndrome [RCV000317187]	Chr17:61479980 [GRCh38] Chr17:59557341 [GRCh37] Chr17:17q23.2	benign\|uncertain significance
NM_001321120.2(TBX4):c.1227C>T (p.Asp409=)	single nucleotide variant	Coxopodopatellar syndrome [RCV000351494]\|not provided [RCV001683304]	Chr17:61483102 [GRCh38] Chr17:59560463 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.*707G>T	single nucleotide variant	Coxopodopatellar syndrome [RCV000340879]\|not provided [RCV004709718]	Chr17:61484223 [GRCh38] Chr17:59561584 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.932C>T (p.Ser311Leu)	single nucleotide variant	Coxopodopatellar syndrome [RCV000268145]\|TBX4-related disorder [RCV004549715]\|not provided [RCV000949005]	Chr17:61480230 [GRCh38] Chr17:59557591 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.*766A>C	single nucleotide variant	Coxopodopatellar syndrome [RCV000305444]	Chr17:61484282 [GRCh38] Chr17:59561643 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.108G>T (p.Ala36=)	single nucleotide variant	Coxopodopatellar syndrome [RCV000346338]	Chr17:61456598 [GRCh38] Chr17:59533959 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.*98GT[18]	microsatellite	Coxopodopatellar syndrome [RCV000363023]\|not provided [RCV004694342]	Chr17:61483614..61483617 [GRCh38] Chr17:59560975..59560978 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.*252G>C	single nucleotide variant	Coxopodopatellar syndrome [RCV000333776]	Chr17:61483768 [GRCh38] Chr17:59561129 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.*383G>T	single nucleotide variant	Coxopodopatellar syndrome [RCV000335097]	Chr17:61483899 [GRCh38] Chr17:59561260 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.*137TA[1]	microsatellite	Coxopodopatellar syndrome [RCV000387407]	Chr17:61483653..61483654 [GRCh38] Chr17:59561014..59561015 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.110C>T (p.Pro37Leu)	single nucleotide variant	Coxopodopatellar syndrome [RCV000390376]\|Inborn genetic diseases [RCV004021708]	Chr17:61456600 [GRCh38] Chr17:59533961 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.*627T>C	single nucleotide variant	Coxopodopatellar syndrome [RCV000375727]	Chr17:61484143 [GRCh38] Chr17:59561504 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.136_139del	deletion	Coxopodopatellar syndrome [RCV000328214]	Chr17:61483651..61483654 [GRCh38] Chr17:59561012..59561015 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.281+1G>A	single nucleotide variant	not provided [RCV000520461]	Chr17:61457632 [GRCh38] Chr17:59534993 [GRCh37] Chr17:17q23.2	pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	copy number gain	See cases [RCV000447823]	Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3	pathogenic
NM_001321120.2(TBX4):c.295A>G (p.Ser99Gly)	single nucleotide variant	not provided [RCV000498351]	Chr17:61465832 [GRCh38] Chr17:59543193 [GRCh37] Chr17:17q23.2	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	copy number loss	See cases [RCV000511292]	Chr17:56623275..60285107 [GRCh37] Chr17:17q22-23.2	pathogenic
NM_001321120.2(TBX4):c.772C>T (p.Arg258Cys)	single nucleotide variant	Inborn genetic diseases [RCV003240226]	Chr17:61479950 [GRCh38] Chr17:59557311 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.367G>A (p.Asp123Asn)	single nucleotide variant	Inborn genetic diseases [RCV003248650]	Chr17:61465904 [GRCh38] Chr17:59543265 [GRCh37] Chr17:17q23.2	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_001321120.2(TBX4):c.670_672del (p.Phe224del)	deletion	Pulmonary arterial hypertension associated with congenital heart disease [RCV000664182]	Chr17:61478746..61478748 [GRCh38] Chr17:59556107..59556109 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.538_547del (p.Pro180fs)	deletion	Coxopodopatellar syndrome [RCV001829826]\|Pulmonary arterial hypertension associated with congenital heart disease [RCV000664180]	Chr17:61467645..61467654 [GRCh38] Chr17:59545006..59545015 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln)	single nucleotide variant	Pulmonary arterial hypertension associated with congenital heart disease [RCV000664181]\|not provided [RCV003718276]	Chr17:61479927 [GRCh38] Chr17:59557288 [GRCh37] Chr17:17q23.2	pathogenic\|likely pathogenic\|uncertain significance
GRCh37/hg19 17q23.2(chr17:58388728-60486746)x1	copy number loss	not provided [RCV000683946]	Chr17:58388728..60486746 [GRCh37] Chr17:17q23.2	likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_001321120.2(TBX4):c.282-90T>C	single nucleotide variant	not provided [RCV001706988]	Chr17:61465729 [GRCh38] Chr17:59543090 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.402-61G>A	single nucleotide variant	not provided [RCV001669200]	Chr17:61467449 [GRCh38] Chr17:59544810 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.40_49del (p.Phe14fs)	deletion	Pulmonary arterial hypertension [RCV001003777]\|Pulmonary hypertension, primary, 1 [RCV001827161]	Chr17:61456528..61456537 [GRCh38] Chr17:59533889..59533898 [GRCh37] Chr17:17q23.2	likely pathogenic\|not provided
NM_001321120.2(TBX4):c.1018C>T (p.Arg340Ter)	single nucleotide variant	not provided [RCV000760681]	Chr17:61480316 [GRCh38] Chr17:59557677 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.702+147C>T	single nucleotide variant	not provided [RCV001649026]	Chr17:61478926 [GRCh38] Chr17:59556287 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.251del (p.Gly84fs)	deletion	Coxopodopatellar syndrome [RCV000984861]\|Pulmonary hypertension, primary, 1 [RCV001827122]	Chr17:61457599 [GRCh38] Chr17:59534960 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter)	single nucleotide variant	Coxopodopatellar syndrome [RCV000984862]\|Pulmonary hypertension, primary, 1 [RCV001827123]\|not provided [RCV002549631]	Chr17:61482932 [GRCh38] Chr17:59560293 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.792-1G>C	single nucleotide variant	Coxopodopatellar syndrome [RCV000984863]\|Pulmonary hypertension, primary, 1 [RCV001827124]	Chr17:61480089 [GRCh38] Chr17:59557450 [GRCh37] Chr17:17q23.2	pathogenic\|likely pathogenic
NM_001321120.1:c.557T>G	single nucleotide variant	Ischiopatellar dysplasia [RCV000984864]		pathogenic
NM_001321120.2(TBX4):c.792-8C>A	single nucleotide variant	not provided [RCV000926183]	Chr17:61480082 [GRCh38] Chr17:59557443 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.1074C>T (p.Ala358=)	single nucleotide variant	not provided [RCV000882046]	Chr17:61482949 [GRCh38] Chr17:59560310 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.401+3A>T	single nucleotide variant	Coxopodopatellar syndrome [RCV001548763]	Chr17:61465941 [GRCh38] Chr17:59543302 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.281+1G>T	single nucleotide variant	Coxopodopatellar syndrome [RCV000995662]	Chr17:61457632 [GRCh38] Chr17:59534993 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.355dup (p.Ile119fs)	duplication	Coxopodopatellar syndrome [RCV000782140]	Chr17:61465891..61465892 [GRCh38] Chr17:59543252..59543253 [GRCh37] Chr17:17q23.2	pathogenic
GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	copy number gain	not provided [RCV000767764]	Chr17:57357088..66306668 [GRCh37] Chr17:17q22-24.2	pathogenic
NM_001321120.2(TBX4):c.1635C>T (p.Asp545=)	single nucleotide variant	not provided [RCV000898032]	Chr17:61483510 [GRCh38] Chr17:59560871 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.256G>A (p.Glu86Lys)	single nucleotide variant	Primary pulmonary hypoplasia [RCV000984347]	Chr17:61457606 [GRCh38] Chr17:59534967 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1572C>A (p.Ser524=)	single nucleotide variant	not provided [RCV000916829]	Chr17:61483447 [GRCh38] Chr17:59560808 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.780C>T (p.Ala260=)	single nucleotide variant	not provided [RCV000920029]	Chr17:61479958 [GRCh38] Chr17:59557319 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.1362G>A (p.Pro454=)	single nucleotide variant	not provided [RCV000899501]	Chr17:61483237 [GRCh38] Chr17:59560598 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.1113C>A (p.Pro371=)	single nucleotide variant	TBX4-related disorder [RCV004551690]\|not provided [RCV000896765]	Chr17:61482988 [GRCh38] Chr17:59560349 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.844C>T (p.Pro282Ser)	single nucleotide variant	TBX4-related disorder [RCV004551712]\|not provided [RCV000899736]	Chr17:61480142 [GRCh38] Chr17:59557503 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.1317G>A (p.Pro439=)	single nucleotide variant	not provided [RCV000926018]	Chr17:61483192 [GRCh38] Chr17:59560553 [GRCh37] Chr17:17q23.2	likely benign
GRCh37/hg19 17q23.1-23.2(chr17:58121190-60140614)	copy number gain	not provided [RCV000767765]	Chr17:58121190..60140614 [GRCh37] Chr17:17q23.1-23.2	likely pathogenic
NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter)	single nucleotide variant	Autosomal recessive amelia [RCV001251075]\|Coxopodopatellar syndrome [RCV001251076]\|Hydronephrosis [RCV000991130]	Chr17:61467510 [GRCh38] Chr17:59544871 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr)	single nucleotide variant	Coxopodopatellar syndrome [RCV000984951]	Chr17:61467632 [GRCh38] Chr17:59544993 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.256G>C (p.Glu86Gln)	single nucleotide variant	not provided [RCV000782141]	Chr17:61457606 [GRCh38] Chr17:59534967 [GRCh37] Chr17:17q23.2	uncertain significance
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	copy number gain	not provided [RCV000845965]	Chr17:57869604..67078443 [GRCh37] Chr17:17q23.1-24.2	pathogenic
NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter)	single nucleotide variant	Abnormality of prenatal development or birth [RCV001814249]\|Autosomal recessive amelia [RCV000993789]\|Coxopodopatellar syndrome [RCV000993790]	Chr17:61465876 [GRCh38] Chr17:59543237 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.972del (p.Thr326fs)	deletion	Pulmonary arterial hypertension [RCV001003780]\|Pulmonary hypertension, primary, 1 [RCV001827162]	Chr17:61480268 [GRCh38] Chr17:59557629 [GRCh37] Chr17:17q23.2	likely pathogenic\|not provided
NM_001321120.2(TBX4):c.1163_1170del (p.Thr388fs)	deletion	Pulmonary arterial hypertension [RCV001003784]\|Pulmonary hypertension, primary, 1 [RCV001827165]	Chr17:61483036..61483043 [GRCh38] Chr17:59560397..59560404 [GRCh37] Chr17:17q23.2	likely pathogenic\|not provided
NM_001321120.2(TBX4):c.595G>A (p.Val199Ile)	single nucleotide variant	Coxopodopatellar syndrome [RCV001125403]\|not provided [RCV002556716]	Chr17:61478672 [GRCh38] Chr17:59556033 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.*428G>A	single nucleotide variant	Coxopodopatellar syndrome [RCV001125493]	Chr17:61483944 [GRCh38] Chr17:59561305 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.71C>T (p.Ala24Val)	single nucleotide variant	not provided [RCV003104931]	Chr17:61456561 [GRCh38] Chr17:59533922 [GRCh37] Chr17:17q23.2	benign
NC_000017.10:g.(?_58227396)_(59938900_?)dup	duplication	not provided [RCV003105288]	Chr17:58227396..59938900 [GRCh37] Chr17:17q23.1-23.2	uncertain significance
NM_001321120.2(TBX4):c.784C>A (p.Leu262Met)	single nucleotide variant	TBX4-related disorder [RCV004554104]	Chr17:61479962 [GRCh38] Chr17:59557323 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1436C>T (p.Ser479Phe)	single nucleotide variant	Inborn genetic diseases [RCV003292622]	Chr17:61483311 [GRCh38] Chr17:59560672 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.401+223G>A	single nucleotide variant	not provided [RCV001676694]	Chr17:61466161 [GRCh38] Chr17:59543522 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.402-96C>T	single nucleotide variant	not provided [RCV001649948]	Chr17:61467414 [GRCh38] Chr17:59544775 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.240C>T (p.Phe80=)	single nucleotide variant	not provided [RCV000931792]	Chr17:61457590 [GRCh38] Chr17:59534951 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.159C>T (p.Asp53=)	single nucleotide variant	not provided [RCV000886263]	Chr17:61456649 [GRCh38] Chr17:59534010 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.864G>A (p.Pro288=)	single nucleotide variant	not provided [RCV000982974]	Chr17:61480162 [GRCh38] Chr17:59557523 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.791+11G>T	single nucleotide variant	Coxopodopatellar syndrome [RCV001127487]\|not provided [RCV003769222]	Chr17:61479980 [GRCh38] Chr17:59557341 [GRCh37] Chr17:17q23.2	likely benign\|uncertain significance
NM_001321120.2(TBX4):c.47C>T (p.Ala16Val)	single nucleotide variant	Coxopodopatellar syndrome [RCV001123297]	Chr17:61456537 [GRCh38] Chr17:59533898 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1113C>G (p.Pro371=)	single nucleotide variant	Coxopodopatellar syndrome [RCV001123381]\|not provided [RCV000891311]	Chr17:61482988 [GRCh38] Chr17:59560349 [GRCh37] Chr17:17q23.2	benign\|likely benign
NM_001321120.2(TBX4):c.1468G>A (p.Ala490Thr)	single nucleotide variant	not provided [RCV001730457]	Chr17:61483343 [GRCh38] Chr17:59560704 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.1352C>A (p.Thr451Asn)	single nucleotide variant	Inborn genetic diseases [RCV004040012]\|not provided [RCV001725917]	Chr17:61483227 [GRCh38] Chr17:59560588 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.862C>G (p.Pro288Ala)	single nucleotide variant	Inborn genetic diseases [RCV002569356]\|not provided [RCV002467124]	Chr17:61480160 [GRCh38] Chr17:59557521 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1021+212C>G	single nucleotide variant	not provided [RCV001677836]	Chr17:61480531 [GRCh38] Chr17:59557892 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.804C>T (p.Pro268=)	single nucleotide variant	not provided [RCV003556493]	Chr17:61480102 [GRCh38] Chr17:59557463 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.*98GT[22]	microsatellite	not provided [RCV001656443]	Chr17:61483613..61483614 [GRCh38] Chr17:59560974..59560975 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.636del (p.Ala213fs)	deletion	not provided [RCV001009099]	Chr17:61478713 [GRCh38] Chr17:59556074 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.401+215G>C	single nucleotide variant	not provided [RCV001613906]	Chr17:61466153 [GRCh38] Chr17:59543514 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.1109C>A (p.Ser370Tyr)	single nucleotide variant	Coxopodopatellar syndrome [RCV001123380]	Chr17:61482984 [GRCh38] Chr17:59560345 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.*8G>A	single nucleotide variant	Coxopodopatellar syndrome [RCV001124489]	Chr17:61483524 [GRCh38] Chr17:59560885 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.121G>T (p.Gly41Ter)	single nucleotide variant	Pulmonary arterial hypertension [RCV001003778]	Chr17:61456611 [GRCh38] Chr17:59533972 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.1115dup (p.Pro373fs)	duplication	Coxopodopatellar syndrome [RCV001251174]\|Coxopodopatellar syndrome [RCV001843368]\|Pulmonary arterial hypertension [RCV001003783]\|Pulmonary hypertension, primary, 1 [RCV001827163]\|Pulmonary hypertension, primary, 1 [RCV001827164]\|not provided [RCV002551706]	Chr17:61482983..61482984 [GRCh38] Chr17:59560344..59560345 [GRCh37] Chr17:17q23.2	pathogenic\|likely pathogenic\|not provided
NM_001321120.2(TBX4):c.1105C>T (p.Arg369Cys)	single nucleotide variant	Coxopodopatellar syndrome [RCV001127488]\|Pulmonary hypertension, primary, 1 [RCV001828564]\|not provided [RCV003727886]	Chr17:61482980 [GRCh38] Chr17:59560341 [GRCh37] Chr17:17q23.2	likely benign\|not provided
NM_001321120.2(TBX4):c.1215G>T (p.Val405=)	single nucleotide variant	Coxopodopatellar syndrome [RCV001123382]	Chr17:61483090 [GRCh38] Chr17:59560451 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1277C>T (p.Pro426Leu)	single nucleotide variant	Coxopodopatellar syndrome [RCV001123383]\|not provided [RCV004761936]	Chr17:61483152 [GRCh38] Chr17:59560513 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.150C>T (p.Pro50=)	single nucleotide variant	Coxopodopatellar syndrome [RCV001124399]	Chr17:61456640 [GRCh38] Chr17:59534001 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.792-18T>C	single nucleotide variant	not provided [RCV001651757]	Chr17:61480072 [GRCh38] Chr17:59557433 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.569A>C (p.His190Pro)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001827523]\|not provided [RCV001583741]	Chr17:61478646 [GRCh38] Chr17:59556007 [GRCh37] Chr17:17q23.2	likely pathogenic\|uncertain significance
NM_001321120.2(TBX4):c.885dup (p.Thr296fs)	duplication	Pulmonary arterial hypertension [RCV001003779]	Chr17:61480182..61480183 [GRCh38] Chr17:59557543..59557544 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.1001_1004dup (p.His335fs)	duplication	Pulmonary arterial hypertension [RCV001003781]	Chr17:61480298..61480299 [GRCh38] Chr17:59557659..59557660 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.1011_1012delinsTT (p.Lys338Ter)	indel	Pulmonary arterial hypertension [RCV001003782]	Chr17:61480309..61480310 [GRCh38] Chr17:59557670..59557671 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.1401A>G (p.Pro467=)	single nucleotide variant	Coxopodopatellar syndrome [RCV001123384]	Chr17:61483276 [GRCh38] Chr17:59560637 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1579C>T (p.Arg527Ter)	single nucleotide variant	not provided [RCV001045196]	Chr17:61483454 [GRCh38] Chr17:59560815 [GRCh37] Chr17:17q23.2	pathogenic\|likely pathogenic
NM_001321120.2(TBX4):c.*607G>T	single nucleotide variant	Coxopodopatellar syndrome [RCV001125494]	Chr17:61484123 [GRCh38] Chr17:59561484 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.*759A>G	single nucleotide variant	Coxopodopatellar syndrome [RCV001127599]	Chr17:61484275 [GRCh38] Chr17:59561636 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.399A>T (p.Lys133Asn)	single nucleotide variant	Coxopodopatellar syndrome [RCV001125402]\|Inborn genetic diseases [RCV002556715]\|not provided [RCV003546635]	Chr17:61465936 [GRCh38] Chr17:59543297 [GRCh37] Chr17:17q23.2	benign\|uncertain significance
NM_001321120.2(TBX4):c.658C>A (p.Pro220Thr)	single nucleotide variant	Coxopodopatellar syndrome [RCV001125404]	Chr17:61478735 [GRCh38] Chr17:59556096 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.*409G>A	single nucleotide variant	Coxopodopatellar syndrome [RCV001125492]	Chr17:61483925 [GRCh38] Chr17:59561286 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1090del (p.Glu364fs)	deletion	Coxopodopatellar syndrome [RCV001253035]	Chr17:61482961 [GRCh38] Chr17:59560322 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.979C>T (p.Gln327Ter)	single nucleotide variant	Coxopodopatellar syndrome [RCV001261981]	Chr17:61480277 [GRCh38] Chr17:59557638 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.1497C>A (p.Pro499=)	single nucleotide variant	not provided [RCV001311491]	Chr17:61483372 [GRCh38] Chr17:59560733 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.1289A>G (p.Tyr430Cys)	single nucleotide variant	not provided [RCV001311490]	Chr17:61483164 [GRCh38] Chr17:59560525 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1584A>C (p.Glu528Asp)	single nucleotide variant	Inborn genetic diseases [RCV003264045]\|not provided [RCV001503196]	Chr17:61483459 [GRCh38] Chr17:59560820 [GRCh37] Chr17:17q23.2	likely benign\|uncertain significance
NM_001321120.2(TBX4):c.282-100_282-99insTT	insertion	not provided [RCV001668808]	Chr17:61465719..61465720 [GRCh38] Chr17:59543080..59543081 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.402-155C>T	single nucleotide variant	not provided [RCV001671796]	Chr17:61467355 [GRCh38] Chr17:59544716 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.282-102_282-100del	deletion	not provided [RCV001673691]	Chr17:61465717..61465719 [GRCh38] Chr17:59543078..59543080 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.702+201C>T	single nucleotide variant	not provided [RCV001708557]	Chr17:61478980 [GRCh38] Chr17:59556341 [GRCh37] Chr17:17q23.2	benign
NM_001321120.2(TBX4):c.652G>A (p.Val218Met)	single nucleotide variant	not provided [RCV001498033]	Chr17:61478729 [GRCh38] Chr17:59556090 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.1021+1G>A	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001827592]\|not provided [RCV001787601]	Chr17:61480320 [GRCh38] Chr17:59557681 [GRCh37] Chr17:17q23.2	pathogenic\|likely pathogenic
NM_001321120.2(TBX4):c.266T>A (p.Ile89Asn)	single nucleotide variant	not provided [RCV001752477]	Chr17:61457616 [GRCh38] Chr17:59534977 [GRCh37] Chr17:17q23.2	uncertain significance
NC_000017.10:g.58076721_60362868del	deletion	Megacolon [RCV001290085]	Chr17:58076721..60362868 [GRCh37] Chr17:17q23.1-23.2	likely pathogenic
GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067)	copy number gain	Familial clubfoot due to 17q23.1q23.2 microduplication [RCV002280709]	Chr17:58111094..60323067 [GRCh37] Chr17:17q23.1-23.2	likely pathogenic
NM_001321120.2(TBX4):c.1210G>A (p.Gly404Arg)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829325]\|not provided [RCV002542783]	Chr17:61483085 [GRCh38] Chr17:59560446 [GRCh37] Chr17:17q23.2	likely benign\|uncertain significance
NM_001321120.2(TBX4):c.577C>T (p.Gln193Ter)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829328]	Chr17:61478654 [GRCh38] Chr17:59556015 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.1012A>T (p.Lys338Ter)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829335]	Chr17:61480310 [GRCh38] Chr17:59557671 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.1027G>T (p.Gly343Cys)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829342]	Chr17:61482902 [GRCh38] Chr17:59560263 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.1201G>A (p.Glu401Lys)	single nucleotide variant	Primary pulmonary hypoplasia [RCV001829348]	Chr17:61483076 [GRCh38] Chr17:59560437 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.809T>G (p.Ile270Ser)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829365]	Chr17:61480107 [GRCh38] Chr17:59557468 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.432G>T (p.Met144Ile)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829374]	Chr17:61467540 [GRCh38] Chr17:59544901 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.916G>T (p.Glu306Ter)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829377]	Chr17:61480214 [GRCh38] Chr17:59557575 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.932C>A (p.Ser311Ter)	single nucleotide variant	Coxopodopatellar syndrome [RCV001829323]	Chr17:61480230 [GRCh38] Chr17:59557591 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.509AGCTGA[1] (p.170KL[1])	microsatellite	Pulmonary hypertension, primary, 1 [RCV001829329]	Chr17:61467615..61467620 [GRCh38] Chr17:59544976..59544981 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.64G>T (p.Gly22Ter)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829339]\|not provided [RCV003718447]	Chr17:61456554 [GRCh38] Chr17:59533915 [GRCh37] Chr17:17q23.2	pathogenic\|not provided
NM_001321120.2(TBX4):c.338A>G (p.Tyr113Cys)	single nucleotide variant	Coxopodopatellar syndrome [RCV001829351]	Chr17:61465875 [GRCh38] Chr17:59543236 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.379T>A (p.Tyr127Asn)	single nucleotide variant	Autosomal recessive amelia [RCV001829353]	Chr17:61465916 [GRCh38] Chr17:59543277 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.455C>T (p.Pro152Leu)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829358]\|not provided [RCV002542786]	Chr17:61467563 [GRCh38] Chr17:59544924 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.664del (p.Thr222fs)	deletion	Pulmonary hypertension, primary, 1 [RCV001829327]	Chr17:61478741 [GRCh38] Chr17:59556102 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.113dup (p.Leu39fs)	duplication	Coxopodopatellar syndrome [RCV001829333]	Chr17:61456600..61456601 [GRCh38] Chr17:59533961..59533962 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.287T>A (p.Met96Lys)	single nucleotide variant	Coxopodopatellar syndrome [RCV001829341]	Chr17:61465824 [GRCh38] Chr17:59543185 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.847dup (p.Gln283fs)	duplication	Pulmonary hypertension, primary, 1 [RCV001829349]	Chr17:61480139..61480140 [GRCh38] Chr17:59557500..59557501 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.985G>T (p.Asp329Tyr)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829366]	Chr17:61480283 [GRCh38] Chr17:59557644 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.1420_1423dup (p.Tyr475fs)	duplication	Pulmonary hypertension, primary, 1 [RCV001829370]	Chr17:61483293..61483294 [GRCh38] Chr17:59560654..59560655 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.401G>C (p.Trp134Ser)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829375]	Chr17:61465938 [GRCh38] Chr17:59543299 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.677C>A (p.Ser226Tyr)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829378]	Chr17:61478754 [GRCh38] Chr17:59556115 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.229T>C (p.Trp77Arg)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829379]	Chr17:61457579 [GRCh38] Chr17:59534940 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.-3-581G>A	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829380]	Chr17:61455907 [GRCh38] Chr17:59533268 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.380A>C (p.Tyr127Ser)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829331]	Chr17:61465917 [GRCh38] Chr17:59543278 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.1186T>C (p.Ser396Pro)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829336]	Chr17:61483061 [GRCh38] Chr17:59560422 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.1106G>A (p.Arg369His)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829343]	Chr17:61482981 [GRCh38] Chr17:59560342 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.179_180dup (p.Glu61fs)	microsatellite	Pulmonary hypertension, primary, 1 [RCV001829354]	Chr17:61456666..61456667 [GRCh38] Chr17:59534027..59534028 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.529C>T (p.His177Tyr)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829360]	Chr17:61467637 [GRCh38] Chr17:59544998 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.789del (p.Ser264fs)	deletion	Pulmonary hypertension, primary, 1 [RCV001829364]	Chr17:61479967 [GRCh38] Chr17:59557328 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.1148A>C (p.Tyr383Ser)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829368]\|not provided [RCV003136184]	Chr17:61483023 [GRCh38] Chr17:59560384 [GRCh37] Chr17:17q23.2	uncertain significance\|not provided
NM_001321120.2(TBX4):c.153_181del (p.Val54fs)	deletion	Pulmonary hypertension, primary, 1 [RCV001829372]	Chr17:61456640..61456668 [GRCh38] Chr17:59534001..59534029 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.1461dup (p.Pro488fs)	duplication	Pulmonary hypertension, primary, 1 [RCV001829373]	Chr17:61483331..61483332 [GRCh38] Chr17:59560692..59560693 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.1078T>A (p.Ser360Thr)	single nucleotide variant	Inborn genetic diseases [RCV004042774]\|not provided [RCV001909419]	Chr17:61482953 [GRCh38] Chr17:59560314 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.669_672del (p.Phe224fs)	deletion	not provided [RCV001913815]	Chr17:61478744..61478747 [GRCh38] Chr17:59556105..59556108 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.1426A>C (p.Asn476His)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829316]	Chr17:61483301 [GRCh38] Chr17:59560662 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.308_310dup (p.Lys103_Val104insGlu)	duplication	Pulmonary hypertension, primary, 1 [RCV001829317]	Chr17:61465844..61465845 [GRCh38] Chr17:59543205..59543206 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.781C>T (p.Arg261Ter)	single nucleotide variant	Coxopodopatellar syndrome [RCV002074388]\|Pulmonary hypertension, primary, 1 [RCV001829318]	Chr17:61479959 [GRCh38] Chr17:59557320 [GRCh37] Chr17:17q23.2	pathogenic\|not provided
NM_001321120.2(TBX4):c.1065T>G (p.Tyr355Ter)	single nucleotide variant	Coxopodopatellar syndrome [RCV001829321]	Chr17:61482940 [GRCh38] Chr17:59560301 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.901C>T (p.Gln301Ter)	single nucleotide variant	Coxopodopatellar syndrome [RCV001829322]	Chr17:61480199 [GRCh38] Chr17:59557560 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.736G>A (p.Ala246Thr)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829332]	Chr17:61479914 [GRCh38] Chr17:59557275 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.1277C>A (p.Pro426Gln)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829337]	Chr17:61483152 [GRCh38] Chr17:59560513 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.1150T>C (p.Cys384Arg)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829346]	Chr17:61483025 [GRCh38] Chr17:59560386 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829352]	Chr17:61465853 [GRCh38] Chr17:59543214 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.293C>T (p.Pro98Leu)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829356]	Chr17:61465830 [GRCh38] Chr17:59543191 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.299A>G (p.Tyr100Cys)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829357]	Chr17:61465836 [GRCh38] Chr17:59543197 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.748C>T (p.Arg250Trp)	single nucleotide variant	Coxopodopatellar syndrome [RCV001829359]\|not provided [RCV002034695]	Chr17:61479926 [GRCh38] Chr17:59557287 [GRCh37] Chr17:17q23.2	pathogenic\|not provided
NM_001321120.2(TBX4):c.782G>A (p.Arg261Gln)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829363]	Chr17:61479960 [GRCh38] Chr17:59557321 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1021G>C (p.Ala341Pro)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829367]	Chr17:61480319 [GRCh38] Chr17:59557680 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.1122C>A (p.Tyr374Ter)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829369]	Chr17:61482997 [GRCh38] Chr17:59560358 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.167C>T (p.Ala56Val)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829376]	Chr17:61456657 [GRCh38] Chr17:59534018 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.231G>A (p.Trp77Ter)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829319]	Chr17:61457581 [GRCh38] Chr17:59534942 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.1122C>G (p.Tyr374Ter)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829320]	Chr17:61482997 [GRCh38] Chr17:59560358 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.1058G>T (p.Arg353Leu)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829324]	Chr17:61482933 [GRCh38] Chr17:59560294 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.150del (p.Ala52fs)	deletion	Pulmonary hypertension, primary, 1 [RCV001829330]	Chr17:61456638 [GRCh38] Chr17:59533999 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.1167dup (p.Arg390fs)	duplication	Coxopodopatellar syndrome [RCV001829334]\|not provided [RCV002542784]	Chr17:61483037..61483038 [GRCh38] Chr17:59560398..59560399 [GRCh37] Chr17:17q23.2	pathogenic\|not provided
NM_001321120.2(TBX4):c.1167_1168del (p.Glu391fs)	deletion	Pulmonary hypertension, primary, 1 [RCV001829344]	Chr17:61483042..61483043 [GRCh38] Chr17:59560403..59560404 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.524_527del (p.Asn175fs)	microsatellite	Primary pulmonary hypoplasia [RCV001829347]	Chr17:61467628..61467631 [GRCh38] Chr17:59544989..59544992 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.210dup (p.Leu71fs)	duplication	Pulmonary hypertension, primary, 1 [RCV001829355]\|not provided [RCV002542785]	Chr17:61457556..61457557 [GRCh38] Chr17:59534917..59534918 [GRCh37] Chr17:17q23.2	pathogenic\|likely pathogenic
NM_001321120.2(TBX4):c.500_502del (p.Ser167del)	deletion	Pulmonary hypertension, primary, 1 [RCV001829326]	Chr17:61467606..61467608 [GRCh38] Chr17:59544967..59544969 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1546G>A (p.Glu516Lys)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829338]	Chr17:61483421 [GRCh38] Chr17:59560782 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.538C>T (p.Pro180Ser)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829340]	Chr17:61467646 [GRCh38] Chr17:59545007 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.1345G>A (p.Ala449Thr)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829345]\|not provided [RCV002466704]	Chr17:61483220 [GRCh38] Chr17:59560581 [GRCh37] Chr17:17q23.2	uncertain significance\|not provided
NM_001321120.2(TBX4):c.146del (p.Gly49fs)	deletion	Pulmonary hypertension, primary, 1 [RCV001829350]	Chr17:61456634 [GRCh38] Chr17:59533995 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.561_570dup (p.Lys191fs)	duplication	Pulmonary hypertension, primary, 1 [RCV001829361]	Chr17:61478637..61478638 [GRCh38] Chr17:59555998..59555999 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.571_576del (p.Lys191_Tyr192del)	deletion	Pulmonary hypertension, primary, 1 [RCV001829362]	Chr17:61478646..61478651 [GRCh38] Chr17:59556007..59556012 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.143dup (p.Pro50fs)	duplication	Pulmonary hypertension, primary, 1 [RCV001829371]	Chr17:61456627..61456628 [GRCh38] Chr17:59533988..59533989 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.1354A>G (p.Met452Val)	single nucleotide variant	Pulmonary hypertension, primary, 1 [RCV001829381]	Chr17:61483229 [GRCh38] Chr17:59560590 [GRCh37] Chr17:17q23.2	not provided
NM_001321120.2(TBX4):c.994del (p.Leu332fs)	deletion	not provided [RCV001941745]	Chr17:61480291 [GRCh38] Chr17:59557652 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.175G>A (p.Ala59Thr)	single nucleotide variant	not provided [RCV002036796]	Chr17:61456665 [GRCh38] Chr17:59534026 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.863C>T (p.Pro288Leu)	single nucleotide variant	not provided [RCV001916154]	Chr17:61480161 [GRCh38] Chr17:59557522 [GRCh37] Chr17:17q23.2	uncertain significance
NC_000017.10:g.(?_54671585)_(59938900_?)dup	duplication	Familial aplasia of the vermis [RCV001923071]	Chr17:54671585..59938900 [GRCh37] Chr17:17q22-23.2	uncertain significance
NC_000017.10:g.(?_59533852)_(59560877_?)del	deletion	not provided [RCV001951246]	Chr17:59533852..59560877 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.1451G>A (p.Arg484Gln)	single nucleotide variant	not provided [RCV002112238]	Chr17:61483326 [GRCh38] Chr17:59560687 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.525C>T (p.Asn175=)	single nucleotide variant	not provided [RCV002174753]	Chr17:61467633 [GRCh38] Chr17:59544994 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.3G>A (p.Met1Ile)	single nucleotide variant	Coxopodopatellar syndrome [RCV002249189]	Chr17:61456493 [GRCh38] Chr17:59533854 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.1350C>T (p.Thr450=)	single nucleotide variant	not provided [RCV002083392]	Chr17:61483225 [GRCh38] Chr17:59560586 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.186+16C>T	single nucleotide variant	not provided [RCV002100026]	Chr17:61456692 [GRCh38] Chr17:59534053 [GRCh37] Chr17:17q23.2	benign
NC_000017.10:g.(?_58227396)_(59938900_?)del	deletion	not provided [RCV003113291]	Chr17:58227396..59938900 [GRCh37] Chr17:17q23.1-23.2	uncertain significance
NM_001321120.2(TBX4):c.1021G>A (p.Ala341Thr)	single nucleotide variant	Coxopodopatellar syndrome [RCV003229798]	Chr17:61480319 [GRCh38] Chr17:59557680 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1565C>G (p.Thr522Ser)	single nucleotide variant	Inborn genetic diseases [RCV002749190]	Chr17:61483440 [GRCh38] Chr17:59560801 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.612C>T (p.Asn204=)	single nucleotide variant	not provided [RCV002615133]	Chr17:61478689 [GRCh38] Chr17:59556050 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.271A>G (p.Lys91Glu)	single nucleotide variant	Coxopodopatellar syndrome [RCV002795926]	Chr17:61457621 [GRCh38] Chr17:59534982 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.1396C>T (p.Pro466Ser)	single nucleotide variant	Inborn genetic diseases [RCV002661468]	Chr17:61483271 [GRCh38] Chr17:59560632 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.902A>G (p.Gln301Arg)	single nucleotide variant	Inborn genetic diseases [RCV002692554]	Chr17:61480200 [GRCh38] Chr17:59557561 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1363C>T (p.Arg455Trp)	single nucleotide variant	not provided [RCV002621706]	Chr17:61483238 [GRCh38] Chr17:59560599 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1301C>T (p.Thr434Met)	single nucleotide variant	Inborn genetic diseases [RCV002929801]	Chr17:61483176 [GRCh38] Chr17:59560537 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.55_75del (p.Pro19_Ser25del)	deletion	not provided [RCV002710407]	Chr17:61456543..61456563 [GRCh38] Chr17:59533904..59533924 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.934C>T (p.Gln312Ter)	single nucleotide variant	not provided [RCV002711147]	Chr17:61480232 [GRCh38] Chr17:59557593 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.476C>G (p.Ala159Gly)	single nucleotide variant	Inborn genetic diseases [RCV002768122]	Chr17:61467584 [GRCh38] Chr17:59544945 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1580G>A (p.Arg527Gln)	single nucleotide variant	Inborn genetic diseases [RCV002767805]	Chr17:61483455 [GRCh38] Chr17:59560816 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.97G>T (p.Ala33Ser)	single nucleotide variant	Inborn genetic diseases [RCV002935230]	Chr17:61456587 [GRCh38] Chr17:59533948 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1181T>C (p.Met394Thr)	single nucleotide variant	Inborn genetic diseases [RCV002940709]	Chr17:61483056 [GRCh38] Chr17:59560417 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1034G>A (p.Arg345His)	single nucleotide variant	not provided [RCV003061085]	Chr17:61482909 [GRCh38] Chr17:59560270 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.721G>T (p.Glu241Ter)	single nucleotide variant	not provided [RCV002877537]	Chr17:61479899 [GRCh38] Chr17:59557260 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.1244C>T (p.Pro415Leu)	single nucleotide variant	not provided [RCV002628979]	Chr17:61483119 [GRCh38] Chr17:59560480 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.1114C>G (p.Pro372Ala)	single nucleotide variant	not provided [RCV002602607]	Chr17:61482989 [GRCh38] Chr17:59560350 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1489G>A (p.Gly497Ser)	single nucleotide variant	not provided [RCV003092908]	Chr17:61483364 [GRCh38] Chr17:59560725 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.151G>C (p.Gly51Arg)	single nucleotide variant	Inborn genetic diseases [RCV004676157]\|not provided [RCV002611625]	Chr17:61456641 [GRCh38] Chr17:59534002 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.560A>C (p.Asn187Thr)	single nucleotide variant	Inborn genetic diseases [RCV003186299]	Chr17:61478637 [GRCh38] Chr17:59555998 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1558T>A (p.Ser520Thr)	single nucleotide variant	Inborn genetic diseases [RCV003215834]	Chr17:61483433 [GRCh38] Chr17:59560794 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1114C>A (p.Pro372Thr)	single nucleotide variant	Inborn genetic diseases [RCV003179428]	Chr17:61482989 [GRCh38] Chr17:59560350 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.445T>A (p.Tyr149Asn)	single nucleotide variant	not provided [RCV003318982]	Chr17:61467553 [GRCh38] Chr17:59544914 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.748del (p.Arg250fs)	deletion	TBX4-related disorder [RCV003335974]	Chr17:61479925 [GRCh38] Chr17:59557286 [GRCh37] Chr17:17q23.2	likely pathogenic
NM_001321120.2(TBX4):c.23C>T (p.Ser8Phe)	single nucleotide variant	Inborn genetic diseases [RCV003373262]	Chr17:61456513 [GRCh38] Chr17:59533874 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.652G>T (p.Val218Leu)	single nucleotide variant	Inborn genetic diseases [RCV003383063]	Chr17:61478729 [GRCh38] Chr17:59556090 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.400T>C (p.Trp134Arg)	single nucleotide variant	not provided [RCV003569559]	Chr17:61465937 [GRCh38] Chr17:59543298 [GRCh37] Chr17:17q23.2	uncertain significance
GRCh37/hg19 17q23.1-23.2(chr17:58111095-60355640)x1	copy number loss	not provided [RCV003483321]	Chr17:58111095..60355640 [GRCh37] Chr17:17q23.1-23.2	pathogenic
NM_001321120.2(TBX4):c.-3-583T>C	single nucleotide variant	not provided [RCV003428360]	Chr17:61455905 [GRCh38] Chr17:59533266 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.165CGC[4] (p.Ala60del)	microsatellite	not provided [RCV003421385]	Chr17:61456655..61456657 [GRCh38] Chr17:59534016..59534018 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.94C>G (p.Pro32Ala)	single nucleotide variant	not provided [RCV003442293]	Chr17:61456584 [GRCh38] Chr17:59533945 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.187-4C>T	single nucleotide variant	not provided [RCV003547118]	Chr17:61457533 [GRCh38] Chr17:59534894 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.549+12G>T	single nucleotide variant	not provided [RCV003816743]	Chr17:61467669 [GRCh38] Chr17:59545030 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.847C>T (p.Gln283Ter)	single nucleotide variant	not provided [RCV003671107]	Chr17:61480145 [GRCh38] Chr17:59557506 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.34G>A (p.Glu12Lys)	single nucleotide variant	not provided [RCV003734442]	Chr17:61456524 [GRCh38] Chr17:59533885 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.91G>A (p.Glu31Lys)	single nucleotide variant	not provided [RCV003670699]	Chr17:61456581 [GRCh38] Chr17:59533942 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.487C>T (p.Arg163Trp)	single nucleotide variant	not provided [RCV003858510]	Chr17:61467595 [GRCh38] Chr17:59544956 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1464C>T (p.Pro488=)	single nucleotide variant	not provided [RCV003734406]	Chr17:61483339 [GRCh38] Chr17:59560700 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.178G>A (p.Ala60Thr)	single nucleotide variant	not provided [RCV003711500]	Chr17:61456668 [GRCh38] Chr17:59534029 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.571A>T (p.Lys191Ter)	single nucleotide variant	not provided [RCV003703810]	Chr17:61478648 [GRCh38] Chr17:59556009 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.1213G>A (p.Val405Met)	single nucleotide variant	not provided [RCV003736532]	Chr17:61483088 [GRCh38] Chr17:59560449 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.456G>T (p.Pro152=)	single nucleotide variant	not provided [RCV003862940]	Chr17:61467564 [GRCh38] Chr17:59544925 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.593del (p.Ile198fs)	deletion	not provided [RCV003678456]	Chr17:61478670 [GRCh38] Chr17:59556031 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.401+17C>T	single nucleotide variant	not provided [RCV003824328]	Chr17:61465955 [GRCh38] Chr17:59543316 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.165CGC[6] (p.Ala60_Glu61insAla)	microsatellite	not provided [RCV003552771]	Chr17:61456654..61456655 [GRCh38] Chr17:59534015..59534016 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.621C>T (p.Phe207=)	single nucleotide variant	TBX4-related disorder [RCV004554484]	Chr17:61478698 [GRCh38] Chr17:59556059 [GRCh37] Chr17:17q23.2	likely benign
GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	copy number gain	See cases [RCV004442795]	Chr17:58596397..62540700 [GRCh37] Chr17:17q23.2-23.3	uncertain significance
NM_001321120.2(TBX4):c.922G>A (p.Gly308Arg)	single nucleotide variant	TBX4-related disorder [RCV004548916]	Chr17:61480220 [GRCh38] Chr17:59557581 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.549+1G>A	single nucleotide variant	Coxopodopatellar syndrome [RCV003984957]	Chr17:61467658 [GRCh38] Chr17:59545019 [GRCh37] Chr17:17q23.2	pathogenic
NM_001321120.2(TBX4):c.-3-587C>G	single nucleotide variant	TBX4-related disorder [RCV004554372]	Chr17:61455901 [GRCh38] Chr17:59533262 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.1051T>G (p.Cys351Gly)	single nucleotide variant	Inborn genetic diseases [RCV004474320]	Chr17:61482926 [GRCh38] Chr17:59560287 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.125C>A (p.Ala42Asp)	single nucleotide variant	Inborn genetic diseases [RCV004474322]	Chr17:61456615 [GRCh38] Chr17:59533976 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1499A>G (p.Gln500Arg)	single nucleotide variant	Inborn genetic diseases [RCV004474324]	Chr17:61483374 [GRCh38] Chr17:59560735 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.265A>G (p.Ile89Val)	single nucleotide variant	Inborn genetic diseases [RCV004474325]	Chr17:61457615 [GRCh38] Chr17:59534976 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.805G>A (p.Val269Met)	single nucleotide variant	Inborn genetic diseases [RCV004474326]	Chr17:61480103 [GRCh38] Chr17:59557464 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1334C>T (p.Thr445Met)	single nucleotide variant	Inborn genetic diseases [RCV004474323]	Chr17:61483209 [GRCh38] Chr17:59560570 [GRCh37] Chr17:17q23.2	uncertain significance
NC_000017.10:g.(?_59544851)_(59545038_?)del	deletion	not provided [RCV004581437]	Chr17:59544851..59545038 [GRCh37] Chr17:17q23.2	pathogenic
NC_000017.10:g.(?_59543160)_(59545038_?)del	deletion	not provided [RCV004581438]	Chr17:59543160..59545038 [GRCh37] Chr17:17q23.2	pathogenic
NC_000017.10:g.(?_59543160)_(59543319_?)del	deletion	not provided [RCV004581435]	Chr17:59543160..59543319 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1409C>G (p.Ala470Gly)	single nucleotide variant	Inborn genetic diseases [RCV004673569]	Chr17:61483284 [GRCh38] Chr17:59560645 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.155C>T (p.Ala52Val)	single nucleotide variant	Inborn genetic diseases [RCV004673570]	Chr17:61456645 [GRCh38] Chr17:59534006 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1380C>T (p.Ser460=)	single nucleotide variant	Inborn genetic diseases [RCV004673571]	Chr17:61483255 [GRCh38] Chr17:59560616 [GRCh37] Chr17:17q23.2	likely benign
NM_001321120.2(TBX4):c.1635C>A (p.Asp545Glu)	single nucleotide variant	Inborn genetic diseases [RCV004673572]	Chr17:61483510 [GRCh38] Chr17:59560871 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.868G>C (p.Val290Leu)	single nucleotide variant	Inborn genetic diseases [RCV004673573]	Chr17:61480166 [GRCh38] Chr17:59557527 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.890A>G (p.His297Arg)	single nucleotide variant	Inborn genetic diseases [RCV004673574]	Chr17:61480188 [GRCh38] Chr17:59557549 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1126C>G (p.Gln376Glu)	single nucleotide variant	not provided [RCV004592014]	Chr17:61483001 [GRCh38] Chr17:59560362 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.1412A>G (p.His471Arg)	single nucleotide variant	Inborn genetic diseases [RCV004682061]	Chr17:61483287 [GRCh38] Chr17:59560648 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.40T>C (p.Phe14Leu)	single nucleotide variant	TBX4-related disorder [RCV004728147]	Chr17:61456530 [GRCh38] Chr17:59533891 [GRCh37] Chr17:17q23.2	uncertain significance
NM_001321120.2(TBX4):c.893A>G (p.Gln298Arg)	single nucleotide variant	TBX4-related disorder [RCV004739776]	Chr17:61480191 [GRCh38] Chr17:59557552 [GRCh37] Chr17:17q23.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2610
Count of miRNA genes:	1008
Interacting mature miRNAs:	1233
Transcripts:	ENST00000240335, ENST00000393853, ENST00000586874, ENST00000589003, ENST00000589449, ENST00000590174, ENST00000593249
Prediction methods:	Microtar, Miranda, Pita, 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
407164997	GWAS813973_H	FEV/FVC ratio, response to bronchodilator QTL GWAS813973 (human)		0.0000009	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	17	61482988	61482989	Human
407356758	GWAS1005734_H	BMI-adjusted hip circumference QTL GWAS1005734 (human)		1e-08	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	17	61456507	61456508	Human
407183815	GWAS832791_H	language measurement QTL GWAS832791 (human)		0.000005	language measurement		17	61469426	61469427	Human
407013014	GWAS661990_H	hip bone size QTL GWAS661990 (human)		3e-09	hip bone size		17	61471400	61471401	Human
407199715	GWAS848691_H	alpha-amino-N-butyric acid measurement, response to acamprosate QTL GWAS848691 (human)		0.000005	alpha-amino-N-butyric acid measurement, response to acamprosate		17	61457016	61457017	Human
407012997	GWAS661973_H	intertrochanteric region size QTL GWAS661973 (human)		5e-09	intertrochanteric region size	femur morphological measurement (CMO:0001377)	17	61471400	61471401	Human
406977834	GWAS626810_H	gut microbiome measurement QTL GWAS626810 (human)		0.0000001	gut microbiome measurement		17	61470492	61470493	Human
406909916	GWAS558892_H	BMI-adjusted waist circumference QTL GWAS558892 (human)		0.000006	BMI-adjusted waist circumference		17	61457626	61457627	Human
407008190	GWAS657166_H	femoral neck size QTL GWAS657166 (human)		5e-10	femoral neck size	femoral neck morphological measurement (CMO:0001672)	17	61454041	61454042	Human
406946988	GWAS595964_H	BMI-adjusted waist circumference QTL GWAS595964 (human)		1e-09	BMI-adjusted waist circumference		17	61458604	61458605	Human
407099038	GWAS748014_H	infant cerebrospinal fluid volume measurement QTL GWAS748014 (human)		0.0000005	infant cerebrospinal fluid volume measurement		17	61455992	61455993	Human
407357401	GWAS1006377_H	BMI-adjusted waist circumference QTL GWAS1006377 (human)		3e-09	BMI-adjusted waist circumference		17	61456507	61456508	Human

Markers in Region

TKY3518

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	59,560,948 - 59,561,123	UniSTS	GRCh37
Celera	17	58,661,983 - 58,662,160	UniSTS
HuRef	17	54,927,412 - 54,927,589	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1170	1864	2568	1968	3355	1169	1880	3	321	813	174	2081	4970	4944	35	2294	642	1415	1439	159

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_008080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001321120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_018488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525490	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525491	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525495	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317870	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317871	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC005901	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF188703	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK310312	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC136403	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC142620	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC144062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA428890	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471179	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000240335 ⟹ ENSP00000240335

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	61,456,446 - 61,484,303 (+)	Ensembl

Ensembl Acc Id:

ENST00000586874

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	61,478,363 - 61,481,346 (+)	Ensembl

Ensembl Acc Id:

ENST00000589003 ⟹ ENSP00000467588

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	61,452,404 - 61,478,740 (+)	Ensembl

Ensembl Acc Id:

ENST00000589449

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	61,478,351 - 61,483,370 (+)	Ensembl

Ensembl Acc Id:

ENST00000590174

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	61,465,793 - 61,480,275 (+)	Ensembl

Ensembl Acc Id:

ENST00000593249

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	61,464,214 - 61,478,789 (+)	Ensembl

Ensembl Acc Id:

ENST00000642491 ⟹ ENSP00000495714

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	61,456,464 - 61,483,997 (+)	Ensembl

Ensembl Acc Id:

ENST00000644296 ⟹ ENSP00000495986

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	61,452,422 - 61,485,110 (+)	Ensembl

RefSeq Acc Id:

NM_001321120 ⟹ NP_001308049

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	61,452,422 - 61,485,110 (+)	NCBI
CHM1_1	17	59,594,278 - 59,626,976 (+)	NCBI
T2T-CHM13v2.0	17	62,321,267 - 62,353,953 (+)	NCBI

Sequence:

show sequence

AGAGCCGGGATGTGTCCAGCCCCGAGGGCACGGCAGGCAGCTGGACCCTGACCCAGCGGCGCGG
AGTCGGAGCCCCGGCCGTCCCGCGCTCCTCGGACCCGAACCTGCAGGGGACCTCGGGCCGCTGG
CGCCTCCGCATGCGGCACCGCAATTAGGGAGATGCTGCAGGATAAGGGCCTGTCCGAGAGCGAG
GAGGCCTTCCGGGCCCCGGGCCCAGCGCTCGGAGAGGCCAGCGCAGCCAACGCCCCCGAGCCCG
CGCTGGCAGCGCCGGGCCTCAGCGGAGCCGCGCTAGGCAGCCCCCCGGGACCCGGGGCCGACGT
CGTCGCCGCCGCCGCCGCGGAGCAGACCATCGAGAACATCAAGGTGGGGCTGCATGAGAAGGAG
CTCTGGAAGAAGTTCCACGAGGCGGGCACCGAGATGATCATCACTAAGGCTGGCAGGAGGATGT
TCCCCAGCTACAAGGTAAAAGTCACAGGCATGAACCCCAAGACCAAGTATATCCTGCTGATTGA
CATTGTCCCTGCCGATGACCATCGCTACAAGTTCTGTGACAACAAATGGATGGTGGCAGGGAAG
GCTGAGCCAGCCATGCCAGGAAGGCTGTATGTCCACCCGGATTCTCCTGCCACAGGAGCCCACT
GGATGCGGCAGCTGGTCTCCTTCCAGAAGCTGAAGCTGACAAACAACCACCTGGACCCCTTTGG
CCATATCATCCTCAACTCTATGCACAAGTACCAGCCGCGGCTCCACATCGTTAAGGCTGATGAG
AACAATGCTTTCGGCTCCAAAAACACTGCTTTCTGCACCCACGTGTTCCCAGAGACCTCCTTCA
TCTCTGTGACCTCCTACCAGAATCACAAGATCACCCAGCTGAAAATTGAGAACAACCCTTTTGC
CAAGGGATTCCGGGGCAGTGATGACAGTGACCTGCGTGTGGCCCGACTGCAGAGCAAAGAATAC
CCCGTGATTTCCAAAAGCATCATGAGGCAGAGGCTCATCTCCCCCCAGCTCTCAGCCACACCGG
ACGTGGGCCCCCTGCTCGGCACCCACCAGGCACTCCAGCACTACCAGCACGAGAACGGGGCACA
CTCACAGCTCGCGGAGCCGCAGGACCTGCCCCTCAGCACCTTTCCCACCCAGAGGGACTCAAGC
CTCTTCTATCACTGCCTGAAAAGACGAGCAGACGGTACCCGCCACCTGGACTTACCTTGCAAGC
GATCCTATCTGGAAGCCCCCTCTTCGGTGGGGGAGGATCACTATTTCCGTTCCCCCCCTCCCTA
CGACCAGCAAATGCTGAGCCCCTCCTACTGCAGTGAGGTGACCCCCAGAGAAGCATGTATGTAC
TCAGGTTCAGGGCCCGAGATTGCCGGGGTGTCTGGGGTGGACGACCTGCCCCCACCTCCGCTGA
GCTGTAACATGTGGACTTCAGTGTCGCCGTACACCAGCTATAGCGTGCAGACGATGGAGACTGT
GCCGTACCAGCCCTTCCCCACGCACTTCACCGCCACCACCATGATGCCGCGGCTGCCCACCCTC
TCCGCTCAGAGCTCCCAGCCACCAGGAAATGCCCACTTTAGTGTCTACAATCAGCTCTCCCAGT
CTCAGGTCCGAGAGCGGGGGCCCAGCGCCTCATTCCCAAGAGAGCGCGGCCTCCCCCAAGGGTG
TGAGAGGAAGCCACCCTCGCCACATCTAAATGCTGCCAATGAGTTTCTCTACTCTCAAACCTTC
TCCTTGTCCCGAGAATCTTCCTTACAGTACCATTCAGGAATGGGGACTGTGGAGAACTGGACTG
ACGGATGACTCTCACGTCTCCTCCATAGCCCCGGGACCGTGTTGCTCCAGTATTAACCTCTGTG
GGTGGCCTGCACTCTACCAAGAAACACAGGAAGGTATTCCAGTGTGTGTGTGTGTGTGTGTGTG
TGTGTGTGTGTGTGTGTATACACGAGCATGTATGTATTTGGAGAGCATCCATCTTCTGACATAC
AACTGAGGTCATGACAAGGAAAAAAAACACCACATTTATCTAAGAAGTGATTTTGGCTGCAGGA
CCTGGGTCTATTGTTATCTGACATCTCTTGACATGCCCGTGGGTGGGATGGGAGTGGAGGGTTC
ATATGAGTTATTGAGAGGGTTTTATAATGGTTGATTTACTCAGGGGCCAGGTGGGGAGTTCTCT
CCCATGGGGAAAGATTCTCACTGCTGGGGTGGGAAGATTCTCGCTGCTGGGGTGTGAGGACTCT
GTGCACACCTTAGAGTTCCTGGCCTTCTCTTTGCAAGGGGAGCTGAGAATCTGGTTTTGGTAGC
AGGAGGCCCACTCCTTTGACTTCTGGAGAGTCTGTGAGACTGCCTGAGAGGTGGGCTCAGCTAA
GCCACAATGTGTACTTTGATAGTACAGCTGGCTGCTCAGTGAGTGGCCTAGACATTGATGACTG
GAGCTCTGAGGTCTGAGGGATGACGTTCGGAAAGGGTCATGGGCTAAATGTCACCTGAGGGGTA
TTTTTAAAGGGTTTTTTTTTCCCTTCAAGAGGAGGGAAAATGCAACCAGTAGCATCTCTGTCAT
CATTCAGATTTTGTAATAAAGTACAGAGCCCTTCCCCCTAGGTCCCCAACATACAGTCTCTCAC
TCTGGTGTGTGGAGAGTCAGCCTCCCAGGCACCATACCATCTGCATCCTATGATGATGGGCAAT
TATGAAACACGCCTCAGCTGGCATCATCCCCAGGAGGCCACACTGGAGCTGATGTCTGGCATCT
CCAGGGCCTGTTCTGCTCTCAGAAAATCTACGCTTCTGGAGCGAGAAAGGCCAACAGAAATAAA
GATAGTTGAAAAAAATTTGTTTCTTCCAGTAAATTCAGCCGGTGAGCTCAGAGGAGCAAAGAGA
ATTCTCCAGTGTGGCGCTCACAAAGTCCTCAGCCCTGCGTTTTAGCATTGAATACCACCAGGCC
ATCAGTGTGGCTGGGGTGAACTCTCCATCAAACTTGGGAAATCACTAAACTCTTTGCATGCTGA
ATAGCTATTTATATATTATATAAATAAATAAATATATATATTATATATCGCTCTCTCTCACAAA
TGCAGGCCACATGTCAAATTCAGCTTTGCTTTCTACAAATGAATGAACTTAATAAAAATAAACG
TTGGAGGGGGTATTTGGAAAGACATCTATTTAAATTTTTATTACATGTTTGATATTAAAAACTA
AGAATGGTTTAGATAAAACATATAAATAAATATATATATATATATATATATATATAAACACACA
CACACTACAGATAAGGCTTTTTTAGAAAACACATTAGCTAACAGGTGATATGGAACTTCAAGTG
TTTTGTTATATAGCATGGATGTTTTATTTTGCATATCGGAACATAAAGCCATTTTACAACTGTG
AA

hide sequence

RefSeq Acc Id:

NM_018488 ⟹ NP_060958

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	61,456,488 - 61,485,110 (+)	NCBI
GRCh37	17	59,529,134 - 59,562,471 (+)	NCBI
Build 36	17	56,888,589 - 56,916,446 (+)	NCBI Archive
Celera	17	58,634,841 - 58,662,701 (+)	RGD
HuRef	17	54,900,265 - 54,928,130 (+)	ENTREZGENE
CHM1_1	17	59,598,348 - 59,626,976 (+)	NCBI
T2T-CHM13v2.0	17	62,325,333 - 62,353,953 (+)	NCBI

Sequence:

show sequence

GAGATGCTGCAGGATAAGGGCCTGTCCGAGAGCGAGGAGGCCTTCCGGGCCCCGGGCCCAGCGC
TCGGAGAGGCCAGCGCAGCCAACGCCCCCGAGCCCGCGCTGGCAGCGCCGGGCCTCAGCGGAGC
CGCGCTAGGCAGCCCCCCGGGACCCGGGGCCGACGTCGTCGCCGCCGCCGCCGCGGAGCAGACC
ATCGAGAACATCAAGGTGGGGCTGCATGAGAAGGAGCTCTGGAAGAAGTTCCACGAGGCGGGCA
CCGAGATGATCATCACTAAGGCTGGCAGGAGGATGTTCCCCAGCTACAAGGTAAAAGTCACAGG
CATGAACCCCAAGACCAAGTATATCCTGCTGATTGACATTGTCCCTGCCGATGACCATCGCTAC
AAGTTCTGTGACAACAAATGGATGGTGGCAGGGAAGGCTGAGCCAGCCATGCCAGGAAGGCTGT
ATGTCCACCCGGATTCTCCTGCCACAGGAGCCCACTGGATGCGGCAGCTGGTCTCCTTCCAGAA
GCTGAAGCTGACAAACAACCACCTGGACCCCTTTGGCCATATCATCCTCAACTCTATGCACAAG
TACCAGCCGCGGCTCCACATCGTTAAGGCTGATGAGAACAATGCTTTCGGCTCCAAAAACACTG
CTTTCTGCACCCACGTGTTCCCAGAGACCTCCTTCATCTCTGTGACCTCCTACCAGAATCACAA
GATCACCCAGCTGAAAATTGAGAACAACCCTTTTGCCAAGGGATTCCGGGGCAGTGATGACAGT
GACCTGCGTGTGGCCCGACTGCAGAGCAAAGAATACCCCGTGATTTCCAAAAGCATCATGAGGC
AGAGGCTCATCTCCCCCCAGCTCTCAGCCACACCGGACGTGGGCCCCCTGCTCGGCACCCACCA
GGCACTCCAGCACTACCAGCACGAGAACGGGGCACACTCACAGCTCGCGGAGCCGCAGGACCTG
CCCCTCAGCACCTTTCCCACCCAGAGGGACTCAAGCCTCTTCTATCACTGCCTGAAAAGACGAG
ACGGTACCCGCCACCTGGACTTACCTTGCAAGCGATCCTATCTGGAAGCCCCCTCTTCGGTGGG
GGAGGATCACTATTTCCGTTCCCCCCCTCCCTACGACCAGCAAATGCTGAGCCCCTCCTACTGC
AGTGAGGTGACCCCCAGAGAAGCATGTATGTACTCAGGTTCAGGGCCCGAGATTGCCGGGGTGT
CTGGGGTGGACGACCTGCCCCCACCTCCGCTGAGCTGTAACATGTGGACTTCAGTGTCGCCGTA
CACCAGCTATAGCGTGCAGACGATGGAGACTGTGCCGTACCAGCCCTTCCCCACGCACTTCACC
GCCACCACCATGATGCCGCGGCTGCCCACCCTCTCCGCTCAGAGCTCCCAGCCACCAGGAAATG
CCCACTTTAGTGTCTACAATCAGCTCTCCCAGTCTCAGGTCCGAGAGCGGGGGCCCAGCGCCTC
ATTCCCAAGAGAGCGCGGCCTCCCCCAAGGGTGTGAGAGGAAGCCACCCTCGCCACATCTAAAT
GCTGCCAATGAGTTTCTCTACTCTCAAACCTTCTCCTTGTCCCGAGAATCTTCCTTACAGTACC
ATTCAGGAATGGGGACTGTGGAGAACTGGACTGACGGATGACTCTCACGTCTCCTCCATAGCCC
CGGGACCGTGTTGCTCCAGTATTAACCTCTGTGGGTGGCCTGCACTCTACCAAGAAACACAGGA
AGGTATTCCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACACGAGCATGT
ATGTATTTGGAGAGCATCCATCTTCTGACATACAACTGAGGTCATGACAAGGAAAAAAAACACC
ACATTTATCTAAGAAGTGATTTTGGCTGCAGGACCTGGGTCTATTGTTATCTGACATCTCTTGA
CATGCCCGTGGGTGGGATGGGAGTGGAGGGTTCATATGAGTTATTGAGAGGGTTTTATAATGGT
TGATTTACTCAGGGGCCAGGTGGGGAGTTCTCTCCCATGGGGAAAGATTCTCACTGCTGGGGTG
GGAAGATTCTCGCTGCTGGGGTGTGAGGACTCTGTGCACACCTTAGAGTTCCTGGCCTTCTCTT
TGCAAGGGGAGCTGAGAATCTGGTTTTGGTAGCAGGAGGCCCACTCCTTTGACTTCTGGAGAGT
CTGTGAGACTGCCTGAGAGGTGGGCTCAGCTAAGCCACAATGTGTACTTTGATAGTACAGCTGG
CTGCTCAGTGAGTGGCCTAGACATTGATGACTGGAGCTCTGAGGTCTGAGGGATGACGTTCGGA
AAGGGTCATGGGCTAAATGTCACCTGAGGGGTATTTTTAAAGGGTTTTTTTTTCCCTTCAAGAG
GAGGGAAAATGCAACCAGTAGCATCTCTGTCATCATTCAGATTTTGTAATAAAGTACAGAGCCC
TTCCCCCTAGGTCCCCAACATACAGTCTCTCACTCTGGTGTGTGGAGAGTCAGCCTCCCAGGCA
CCATACCATCTGCATCCTATGATGATGGGCAATTATGAAACACGCCTCAGCTGGCATCATCCCC
AGGAGGCCACACTGGAGCTGATGTCTGGCATCTCCAGGGCCTGTTCTGCTCTCAGAAAATCTAC
GCTTCTGGAGCGAGAAAGGCCAACAGAAATAAAGATAGTTGAAAAAAATTTGTTTCTTCCAGTA
AATTCAGCCGGTGAGCTCAGAGGAGCAAAGAGAATTCTCCAGTGTGGCGCTCACAAAGTCCTCA
GCCCTGCGTTTTAGCATTGAATACCACCAGGCCATCAGTGTGGCTGGGGTGAACTCTCCATCAA
ACTTGGGAAATCACTAAACTCTTTGCATGCTGAATAGCTATTTATATATTATATAAATAAATAA
ATATATATATTATATATCGCTCTCTCTCACAAATGCAGGCCACATGTCAAATTCAGCTTTGCTT
TCTACAAATGAATGAACTTAATAAAAATAAACGTTGGAGGGGGTATTTGGAAAGACATCTATTT
AAATTTTTATTACATGTTTGATATTAAAAACTAAGAATGGTTTAGATAAAACATATAAATAAAT
ATATATATATATATATATATATATAAACACACACACACTACAGATAAGGCTTTTTTAGAAAACA
CATTAGCTAACAGGTGATATGGAACTTCAAGTGTTTTGTTATATAGCATGGATGTTTTATTTTG
CATATCGGAACATAAAGCCATTTTACAACTGTGAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_011525490 ⟹ XP_011523792

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	61,455,113 - 61,485,110 (+)	NCBI

Sequence:

show sequence

AACCTTATCTTTATGGGTTTTTCCCAACCCAGACTGGCCCCGGCCCCTTTTTATCTCCTGGGTT
GCACTTGGCTTGTTTACTTTGCGAGGTCCTGGGAGTCGAAGTCTAAGCCCGGGATGAGGAGGCC
TCTGAACAAGATGGGCGAGAGGCCTGAGCCCGGGGATGCTCCGGGAGGGCCCGGGGAGAGCGGG
AAGAAGGAGATGCTGCAGGATAAGGGCCTGTCCGAGAGCGAGGAGGCCTTCCGGGCCCCGGGCC
CAGCGCTCGGAGAGGCCAGCGCAGCCAACGCCCCCGAGCCCGCGCTGGCAGCGCCGGGCCTCAG
CGGAGCCGCGCTAGGCAGCCCCCCGGGACCCGGGGCCGACGTCGTCGCCGCCGCCGCCGCGGAG
CAGACCATCGAGAACATCAAGGTGGGGCTGCATGAGAAGGAGCTCTGGAAGAAGTTCCACGAGG
CGGGCACCGAGATGATCATCACTAAGGCTGGCAGGAGGATGTTCCCCAGCTACAAGGTAAAAGT
CACAGGCATGAACCCCAAGACCAAGTATATCCTGCTGATTGACATTGTCCCTGCCGATGACCAT
CGCTACAAGTTCTGTGACAACAAATGGATGGTGGCAGGGAAGGCTGAGCCAGCCATGCCAGGAA
GGCTGTATGTCCACCCGGATTCTCCTGCCACAGGAGCCCACTGGATGCGGCAGCTGGTCTCCTT
CCAGAAGCTGAAGCTGACAAACAACCACCTGGACCCCTTTGGCCATATCATCCTCAACTCTATG
CACAAGTACCAGCCGCGGCTCCACATCGTTAAGGCTGATGAGAACAATGCTTTCGGCTCCAAAA
ACACTGCTTTCTGCACCCACGTGTTCCCAGAGACCTCCTTCATCTCTGTGACCTCCTACCAGAA
TCACAAGATCACCCAGCTGAAAATTGAGAACAACCCTTTTGCCAAGGGATTCCGGGGCAGTGAT
GACAGTGACCTGCGTGTGGCCCGACTGCAGAGCAAAGAATACCCCGTGATTTCCAAAAGCATCA
TGAGGCAGAGGCTCATCTCCCCCCAGCTCTCAGCCACACCGGACGTGGGCCCCCTGCTCGGCAC
CCACCAGGCACTCCAGCACTACCAGCACGAGAACGGGGCACACTCACAGCTCGCGGAGCCGCAG
GACCTGCCCCTCAGCACCTTTCCCACCCAGAGGGACTCAAGCCTCTTCTATCACTGCCTGAAAA
GACGAGCAGACGGTACCCGCCACCTGGACTTACCTTGCAAGCGATCCTATCTGGAAGCCCCCTC
TTCGGTGGGGGAGGATCACTATTTCCGTTCCCCCCCTCCCTACGACCAGCAAATGCTGAGCCCC
TCCTACTGCAGTGAGGTGACCCCCAGAGAAGCATGTATGTACTCAGGTTCAGGGCCCGAGATTG
CCGGGGTGTCTGGGGTGGACGACCTGCCCCCACCTCCGCTGAGCTGTAACATGTGGACTTCAGT
GTCGCCGTACACCAGCTATAGCGTGCAGACGATGGAGACTGTGCCGTACCAGCCCTTCCCCACG
CACTTCACCGCCACCACCATGATGCCGCGGCTGCCCACCCTCTCCGCTCAGAGCTCCCAGCCAC
CAGGAAATGCCCACTTTAGTGTCTACAATCAGCTCTCCCAGTCTCAGGTCCGAGAGCGGGGGCC
CAGCGCCTCATTCCCAAGAGAGCGCGGCCTCCCCCAAGGGTGTGAGAGGAAGCCACCCTCGCCA
CATCTAAATGCTGCCAATGAGTTTCTCTACTCTCAAACCTTCTCCTTGTCCCGAGAATCTTCCT
TACAGTACCATTCAGGAATGGGGACTGTGGAGAACTGGACTGACGGATGACTCTCACGTCTCCT
CCATAGCCCCGGGACCGTGTTGCTCCAGTATTAACCTCTGTGGGTGGCCTGCACTCTACCAAGA
AACACAGGAAGGTATTCCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACA
CGAGCATGTATGTATTTGGAGAGCATCCATCTTCTGACATACAACTGAGGTCATGACAAGGAAA
AAAAACACCACATTTATCTAAGAAGTGATTTTGGCTGCAGGACCTGGGTCTATTGTTATCTGAC
ATCTCTTGACATGCCCGTGGGTGGGATGGGAGTGGAGGGTTCATATGAGTTATTGAGAGGGTTT
TATAATGGTTGATTTACTCAGGGGCCAGGTGGGGAGTTCTCTCCCATGGGGAAAGATTCTCACT
GCTGGGGTGGGAAGATTCTCGCTGCTGGGGTGTGAGGACTCTGTGCACACCTTAGAGTTCCTGG
CCTTCTCTTTGCAAGGGGAGCTGAGAATCTGGTTTTGGTAGCAGGAGGCCCACTCCTTTGACTT
CTGGAGAGTCTGTGAGACTGCCTGAGAGGTGGGCTCAGCTAAGCCACAATGTGTACTTTGATAG
TACAGCTGGCTGCTCAGTGAGTGGCCTAGACATTGATGACTGGAGCTCTGAGGTCTGAGGGATG
ACGTTCGGAAAGGGTCATGGGCTAAATGTCACCTGAGGGGTATTTTTAAAGGGTTTTTTTTTCC
CTTCAAGAGGAGGGAAAATGCAACCAGTAGCATCTCTGTCATCATTCAGATTTTGTAATAAAGT
ACAGAGCCCTTCCCCCTAGGTCCCCAACATACAGTCTCTCACTCTGGTGTGTGGAGAGTCAGCC
TCCCAGGCACCATACCATCTGCATCCTATGATGATGGGCAATTATGAAACACGCCTCAGCTGGC
ATCATCCCCAGGAGGCCACACTGGAGCTGATGTCTGGCATCTCCAGGGCCTGTTCTGCTCTCAG
AAAATCTACGCTTCTGGAGCGAGAAAGGCCAACAGAAATAAAGATAGTTGAAAAAAATTTGTTT
CTTCCAGTAAATTCAGCCGGTGAGCTCAGAGGAGCAAAGAGAATTCTCCAGTGTGGCGCTCACA
AAGTCCTCAGCCCTGCGTTTTAGCATTGAATACCACCAGGCCATCAGTGTGGCTGGGGTGAACT
CTCCATCAAACTTGGGAAATCACTAAACTCTTTGCATGCTGAATAGCTATTTATATATTATATA
AATAAATAAATATATATATTATATATCGCTCTCTCTCACAAATGCAGGCCACATGTCAAATTCA
GCTTTGCTTTCTACAAATGAATGAACTTAATAAAAATAAACGTTGGAGGGGGTATTTGGAAAGA
CATCTATTTAAATTTTTATTACATGTTTGATATTAAAAACTAAGAATGGTTTAGATAAAACATA
TAAATAAATATATATATATATATATATATATATAAACACACACACACTACAGATAAGGCTTTTT
TAGAAAACACATTAGCTAACAGGTGATATGGAACTTCAAGTGTTTTGTTATATAGCATGGATGT
TTTATTTTGCATATCGGAACATAAAGCCATTTTACAACTGTGAA

hide sequence

RefSeq Acc Id:

XM_011525491 ⟹ XP_011523793

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	61,455,113 - 61,485,110 (+)	NCBI

Sequence:

show sequence

AACCTTATCTTTATGGGTTTTTCCCAACCCAGACTGGCCCCGGCCCCTTTTTATCTCCTGGGTT
GCACTTGGCTTGTTTACTTTGCGAGGTCCTGGGAGTCGAAGTCTAAGCCCGGGATGAGGAGGCC
TCTGAACAAGATGGGCGAGAGGCCTGAGCCCGGGGATGCTCCGGGAGGGCCCGGGGAGAGCGGG
AAGAAGGAGATGCTGCAGGATAAGGGCCTGTCCGAGAGCGAGGAGGCCTTCCGGGCCCCGGGCC
CAGCGCTCGGAGAGGCCAGCGCAGCCAACGCCCCCGAGCCCGCGCTGGCAGCGCCGGGCCTCAG
CGGAGCCGCGCTAGGCAGCCCCCCGGGACCCGGGGCCGACGTCGTCGCCGCCGCCGCCGCGGAG
CAGACCATCGAGAACATCAAGGTGGGGCTGCATGAGAAGGAGCTCTGGAAGAAGTTCCACGAGG
CGGGCACCGAGATGATCATCACTAAGGCTGGCAGGAGGATGTTCCCCAGCTACAAGGTAAAAGT
CACAGGCATGAACCCCAAGACCAAGTATATCCTGCTGATTGACATTGTCCCTGCCGATGACCAT
CGCTACAAGTTCTGTGACAACAAATGGATGGTGGCAGGGAAGGCTGAGCCAGCCATGCCAGGAA
GGCTGTATGTCCACCCGGATTCTCCTGCCACAGGAGCCCACTGGATGCGGCAGCTGGTCTCCTT
CCAGAAGCTGAAGCTGACAAACAACCACCTGGACCCCTTTGGCCATATCATCCTCAACTCTATG
CACAAGTACCAGCCGCGGCTCCACATCGTTAAGGCTGATGAGAACAATGCTTTCGGCTCCAAAA
ACACTGCTTTCTGCACCCACGTGTTCCCAGAGACCTCCTTCATCTCTGTGACCTCCTACCAGAA
TCACAAGATCACCCAGCTGAAAATTGAGAACAACCCTTTTGCCAAGGGATTCCGGGGCAGTGAT
GACAGTGACCTGCGTGTGGCCCGACTGCAGAGCAAAGAATACCCCGTGATTTCCAAAAGCATCA
TGAGGCAGAGGCTCATCTCCCCCCAGCTCTCAGCCACACCGGACGTGGGCCCCCTGCTCGGCAC
CCACCAGGCACTCCAGCACTACCAGCACGAGAACGGGGCACACTCACAGCTCGCGGAGCCGCAG
GACCTGCCCCTCAGCACCTTTCCCACCCAGAGGGACTCAAGCCTCTTCTATCACTGCCTGAAAA
GACGAGACGGTACCCGCCACCTGGACTTACCTTGCAAGCGATCCTATCTGGAAGCCCCCTCTTC
GGTGGGGGAGGATCACTATTTCCGTTCCCCCCCTCCCTACGACCAGCAAATGCTGAGCCCCTCC
TACTGCAGTGAGGTGACCCCCAGAGAAGCATGTATGTACTCAGGTTCAGGGCCCGAGATTGCCG
GGGTGTCTGGGGTGGACGACCTGCCCCCACCTCCGCTGAGCTGTAACATGTGGACTTCAGTGTC
GCCGTACACCAGCTATAGCGTGCAGACGATGGAGACTGTGCCGTACCAGCCCTTCCCCACGCAC
TTCACCGCCACCACCATGATGCCGCGGCTGCCCACCCTCTCCGCTCAGAGCTCCCAGCCACCAG
GAAATGCCCACTTTAGTGTCTACAATCAGCTCTCCCAGTCTCAGGTCCGAGAGCGGGGGCCCAG
CGCCTCATTCCCAAGAGAGCGCGGCCTCCCCCAAGGGTGTGAGAGGAAGCCACCCTCGCCACAT
CTAAATGCTGCCAATGAGTTTCTCTACTCTCAAACCTTCTCCTTGTCCCGAGAATCTTCCTTAC
AGTACCATTCAGGAATGGGGACTGTGGAGAACTGGACTGACGGATGACTCTCACGTCTCCTCCA
TAGCCCCGGGACCGTGTTGCTCCAGTATTAACCTCTGTGGGTGGCCTGCACTCTACCAAGAAAC
ACAGGAAGGTATTCCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACACGA
GCATGTATGTATTTGGAGAGCATCCATCTTCTGACATACAACTGAGGTCATGACAAGGAAAAAA
AACACCACATTTATCTAAGAAGTGATTTTGGCTGCAGGACCTGGGTCTATTGTTATCTGACATC
TCTTGACATGCCCGTGGGTGGGATGGGAGTGGAGGGTTCATATGAGTTATTGAGAGGGTTTTAT
AATGGTTGATTTACTCAGGGGCCAGGTGGGGAGTTCTCTCCCATGGGGAAAGATTCTCACTGCT
GGGGTGGGAAGATTCTCGCTGCTGGGGTGTGAGGACTCTGTGCACACCTTAGAGTTCCTGGCCT
TCTCTTTGCAAGGGGAGCTGAGAATCTGGTTTTGGTAGCAGGAGGCCCACTCCTTTGACTTCTG
GAGAGTCTGTGAGACTGCCTGAGAGGTGGGCTCAGCTAAGCCACAATGTGTACTTTGATAGTAC
AGCTGGCTGCTCAGTGAGTGGCCTAGACATTGATGACTGGAGCTCTGAGGTCTGAGGGATGACG
TTCGGAAAGGGTCATGGGCTAAATGTCACCTGAGGGGTATTTTTAAAGGGTTTTTTTTTCCCTT
CAAGAGGAGGGAAAATGCAACCAGTAGCATCTCTGTCATCATTCAGATTTTGTAATAAAGTACA
GAGCCCTTCCCCCTAGGTCCCCAACATACAGTCTCTCACTCTGGTGTGTGGAGAGTCAGCCTCC
CAGGCACCATACCATCTGCATCCTATGATGATGGGCAATTATGAAACACGCCTCAGCTGGCATC
ATCCCCAGGAGGCCACACTGGAGCTGATGTCTGGCATCTCCAGGGCCTGTTCTGCTCTCAGAAA
ATCTACGCTTCTGGAGCGAGAAAGGCCAACAGAAATAAAGATAGTTGAAAAAAATTTGTTTCTT
CCAGTAAATTCAGCCGGTGAGCTCAGAGGAGCAAAGAGAATTCTCCAGTGTGGCGCTCACAAAG
TCCTCAGCCCTGCGTTTTAGCATTGAATACCACCAGGCCATCAGTGTGGCTGGGGTGAACTCTC
CATCAAACTTGGGAAATCACTAAACTCTTTGCATGCTGAATAGCTATTTATATATTATATAAAT
AAATAAATATATATATTATATATCGCTCTCTCTCACAAATGCAGGCCACATGTCAAATTCAGCT
TTGCTTTCTACAAATGAATGAACTTAATAAAAATAAACGTTGGAGGGGGTATTTGGAAAGACAT
CTATTTAAATTTTTATTACATGTTTGATATTAAAAACTAAGAATGGTTTAGATAAAACATATAA
ATAAATATATATATATATATATATATATATAAACACACACACACTACAGATAAGGCTTTTTTAG
AAAACACATTAGCTAACAGGTGATATGGAACTTCAAGTGTTTTGTTATATAGCATGGATGTTTT
ATTTTGCATATCGGAACATAAAGCCATTTTACAACTGTGAA

hide sequence

RefSeq Acc Id:

XM_011525495 ⟹ XP_011523797

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	61,455,111 - 61,481,800 (+)	NCBI

Sequence:

show sequence

GTCAACCTTATCTTTATGGGTTTTTCCCAACCCAGACTGGCCCCGGCCCCTTTTTATCTCCTGG
GTTGCACTTGGCTTGTTTACTTTGCGAGGTCCTGGGAGTCGAAGTCTAAGCCCGGGATGAGGAG
GCCTCTGAACAAGATGGGCGAGAGGCCTGAGCCCGGGGATGCTCCGGGAGGGCCCGGGGAGAGC
GGGAAGAAGGAGATGCTGCAGGATAAGGGCCTGTCCGAGAGCGAGGAGGCCTTCCGGGCCCCGG
GCCCAGCGCTCGGAGAGGCCAGCGCAGCCAACGCCCCCGAGCCCGCGCTGGCAGCGCCGGGCCT
CAGCGGAGCCGCGCTAGGCAGCCCCCCGGGACCCGGGGCCGACGTCGTCGCCGCCGCCGCCGCG
GAGCAGACCATCGAGAACATCAAGGTGGGGCTGCATGAGAAGGAGCTCTGGAAGAAGTTCCACG
AGGCGGGCACCGAGATGATCATCACTAAGGCTGGCAGGAGGATGTTCCCCAGCTACAAGGTAAA
AGTCACAGGCATGAACCCCAAGACCAAGTATATCCTGCTGATTGACATTGTCCCTGCCGATGAC
CATCGCTACAAGTTCTGTGACAACAAATGGATGGTGGCAGGGAAGGCTGAGCCAGCCATGCCAG
GAAGGCTGTATGTCCACCCGGATTCTCCTGCCACAGGAGCCCACTGGATGCGGCAGCTGGTCTC
CTTCCAGAAGCTGAAGCTGACAAACAACCACCTGGACCCCTTTGGCCATATCATCCTCAACTCT
ATGCACAAGTACCAGCCGCGGCTCCACATCGTTAAGGCTGATGAGAACAATGCTTTCGGCTCCA
AAAACACTGCTTTCTGCACCCACGTGTTCCCAGAGACCTCCTTCATCTCTGTGACCTCCTACCA
GAATCACAAGATCACCCAGCTGAAAATTGAGAACAACCCTTTTGCCAAGGGATTCCGGGGCAGT
GATGACAGTGACCTGCGTGTGGCCCGACTGCAGAGCAAAGAATACCCCGTGATTTCCAAAAGCA
TCATGAGGCAGAGGCTCATCTCCCCCCAGCTCTCAGCCACACCGGACGTGGGCCCCCTGCTCGG
CACCCACCAGGCACTCCAGCACTACCAGCACGAGAACGGGGCACACTCACAGCTCGCGGAGCCG
CAGGACCTGCCCCTCAGCACCTTTCCCACCCAGAGGGACTCAAGCCTCTTCTATCACTGCCTGA
AAAGACGAGGTTGTCTACGGCTGCTTTCATGGTACAACGGCAGAGTTTCGTAGTTGCAACAGAT
ACCCTGCGGCCCACAAAGCCTAAGATATTTACTATCTGGTCCTTTGCAGAAAAAGTTTGCCCAG
TCTTGACCTAGAGTGAGTAGGCCACCTGCCAGGATCAAGAGCTTAGCTCAGGGAGAAGAGAGGG
ATTTGGAGAGAAGACGGAGAATCGGGCTGAGTGAGGGGCAAAGGAGAGAGCTGGGCAAGGGAGA
GGAGCAGGTCTCCCTGGGCAGGGCAGATGCCACCAGCAGGGGCAGAGGAGAGAGGTGAGCAGAG
GCCTTCACACCCATTTAGCCCCTCTGCTTCCAGCCCCGTGGGTGCACACACAGAGCTCCCCGAA
TGAATCCCTGGAGAAAACAGGAGGAGGGAGGCCAAGATGAGCCATGGATGTGTGGGGTTTTTGT
TGTTGTTGTTGTCCTTGTTTTGAGACGGAGTCTCTCT

hide sequence

RefSeq Acc Id:

XM_054317870 ⟹ XP_054173845

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	62,323,958 - 62,353,953 (+)	NCBI

RefSeq Acc Id:

XM_054317871 ⟹ XP_054173846

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	62,323,958 - 62,353,953 (+)	NCBI

RefSeq Acc Id:

XM_054317872 ⟹ XP_054173847

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	62,323,956 - 62,350,643 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001308049	(Get FASTA)	NCBI Sequence Viewer
	NP_060958	(Get FASTA)	NCBI Sequence Viewer
	XP_011523792	(Get FASTA)	NCBI Sequence Viewer
	XP_011523793	(Get FASTA)	NCBI Sequence Viewer
	XP_011523797	(Get FASTA)	NCBI Sequence Viewer
	XP_054173845	(Get FASTA)	NCBI Sequence Viewer
	XP_054173846	(Get FASTA)	NCBI Sequence Viewer
	XP_054173847	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF68854	(Get FASTA)	NCBI Sequence Viewer
	AAI36404	(Get FASTA)	NCBI Sequence Viewer
	AAI42621	(Get FASTA)	NCBI Sequence Viewer
	AAI44063	(Get FASTA)	NCBI Sequence Viewer
	EAW51428	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000240335
	ENSP00000240335.1
	ENSP00000467588.1
	ENSP00000495714.1
	ENSP00000495986
	ENSP00000495986.1
GenBank Protein	P57082	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_060958 ⟸ NM_018488
- Peptide Label:	isoform 2
- UniProtKB:	B2RMT1 (UniProtKB/Swiss-Prot), A5PKU7 (UniProtKB/Swiss-Prot), B7ZLV3 (UniProtKB/Swiss-Prot), P57082 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTI ENIKVGLHEKELWKKFHEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIVPADDHRYK FCDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKY QPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSD LRVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLP LSTFPTQRDSSLFYHCLKRRDGTRHLDLPCKRSYLEAPSSVGEDHYFRSPPPYDQQMLSPSYCS EVTPREACMYSGSGPEIAGVSGVDDLPPPPLSCNMWTSVSPYTSYSVQTMETVPYQPFPTHFTA TTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQSQVRERGPSASFPRERGLPQGCERKPPSPHLNA ANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG hide sequence

RefSeq Acc Id:

XP_011523797 ⟸ XM_011525495

- Peptide Label:

isoform X3

- Sequence:

show sequence

MGFSQPRLAPAPFYLLGCTWLVYFARSWESKSKPGMRRPLNKMGERPEPGDAPGGPGESGKKEM
LQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIE
NIKVGLHEKELWKKFHEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIVPADDHRYKF
CDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQ
PRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSDL
RVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLPL
STFPTQRDSSLFYHCLKRRGCLRLLSWYNGRVS

hide sequence

RefSeq Acc Id:

XP_011523792 ⟸ XM_011525490

- Peptide Label:

isoform X1

- Sequence:

show sequence

MGFSQPRLAPAPFYLLGCTWLVYFARSWESKSKPGMRRPLNKMGERPEPGDAPGGPGESGKKEM
LQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIE
NIKVGLHEKELWKKFHEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIVPADDHRYKF
CDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQ
PRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSDL
RVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLPL
STFPTQRDSSLFYHCLKRRADGTRHLDLPCKRSYLEAPSSVGEDHYFRSPPPYDQQMLSPSYCS
EVTPREACMYSGSGPEIAGVSGVDDLPPPPLSCNMWTSVSPYTSYSVQTMETVPYQPFPTHFTA
TTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQSQVRERGPSASFPRERGLPQGCERKPPSPHLNA
ANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG

hide sequence

RefSeq Acc Id:

XP_011523793 ⟸ XM_011525491

- Peptide Label:

isoform X2

- Sequence:

show sequence

MGFSQPRLAPAPFYLLGCTWLVYFARSWESKSKPGMRRPLNKMGERPEPGDAPGGPGESGKKEM
LQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIE
NIKVGLHEKELWKKFHEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIVPADDHRYKF
CDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQ
PRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSDL
RVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLPL
STFPTQRDSSLFYHCLKRRDGTRHLDLPCKRSYLEAPSSVGEDHYFRSPPPYDQQMLSPSYCSE
VTPREACMYSGSGPEIAGVSGVDDLPPPPLSCNMWTSVSPYTSYSVQTMETVPYQPFPTHFTAT
TMMPRLPTLSAQSSQPPGNAHFSVYNQLSQSQVRERGPSASFPRERGLPQGCERKPPSPHLNAA
NEFLYSQTFSLSRESSLQYHSGMGTVENWTDG

hide sequence

RefSeq Acc Id:	NP_001308049 ⟸ NM_001321120
- Peptide Label:	isoform 1
- UniProtKB:	P57082 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTI ENIKVGLHEKELWKKFHEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIVPADDHRYK FCDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKY QPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSD LRVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLP LSTFPTQRDSSLFYHCLKRRADGTRHLDLPCKRSYLEAPSSVGEDHYFRSPPPYDQQMLSPSYC SEVTPREACMYSGSGPEIAGVSGVDDLPPPPLSCNMWTSVSPYTSYSVQTMETVPYQPFPTHFT ATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQSQVRERGPSASFPRERGLPQGCERKPPSPHLN AANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG hide sequence

Ensembl Acc Id:

ENSP00000240335 ⟸ ENST00000240335

Ensembl Acc Id:

ENSP00000467588 ⟸ ENST00000589003

Ensembl Acc Id:

ENSP00000495714 ⟸ ENST00000642491

Ensembl Acc Id:

ENSP00000495986 ⟸ ENST00000644296

RefSeq Acc Id:	XP_054173847 ⟸ XM_054317872
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054173845 ⟸ XM_054317870
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054173846 ⟸ XM_054317871
- Peptide Label:	isoform X2

Protein Domains

T-box

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P57082-F1-model_v2	AlphaFold	P57082	1-545	view protein structure

Promoters

RGD ID:

7235897

Promoter ID:

EPDNEW_H23695

Type:

initiation region

Name:

TBX4_1

Description:

T-box 4

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H23696

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	61,452,422 - 61,452,482	EPDNEW

RGD ID:

7235901

Promoter ID:

EPDNEW_H23696

Type:

multiple initiation site

Name:

TBX4_2

Description:

T-box 4

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H23695

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	61,478,275 - 61,478,335	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:11603	AgrOrtholog
COSMIC	TBX4	COSMIC
Ensembl Genes	ENSG00000121075	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000240335	ENTREZGENE
	ENST00000240335.1	UniProtKB/Swiss-Prot
	ENST00000589003.5	UniProtKB/TrEMBL
	ENST00000642491.1	UniProtKB/Swiss-Prot
	ENST00000644296	ENTREZGENE
	ENST00000644296.1	UniProtKB/Swiss-Prot
Gene3D-CATH	2.60.40.820	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000121075	GTEx
HGNC ID	HGNC:11603	ENTREZGENE
Human Proteome Map	TBX4	Human Proteome Map
InterPro	p53-like_TF_DNA-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	T-box_DNA-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	T-box_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TF_Brachyury	UniProtKB/TrEMBL
	TF_T-box	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TF_T-box_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:9496	UniProtKB/Swiss-Prot
NCBI Gene	9496	ENTREZGENE
OMIM	601719	OMIM
PANTHER	PTHR11267	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	T-BOX TRANSCRIPTION FACTOR TBX4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	T-box	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA36366	PharmGKB
PRINTS	BRACHYURY	UniProtKB/TrEMBL
	TBOX	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	TBOX_1	UniProtKB/Swiss-Prot
	TBOX_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TBOX_3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	TBOX	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF49417	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A5PKU7	ENTREZGENE
	B2RMT1	ENTREZGENE
	B7ZLV3	ENTREZGENE
	K7EPY2_HUMAN	UniProtKB/TrEMBL
	P57082	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A5PKU7	UniProtKB/Swiss-Prot
	B2RMT1	UniProtKB/Swiss-Prot
	B7ZLV3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-06-11	TBX4	T-box transcription factor 4	TBX4	T-box 4	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar