TBX4 (T-box transcription factor 4) - Rat Genome Database

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Gene: TBX4 (T-box transcription factor 4) Homo sapiens
Analyze
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
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381761,452,422 - 61,485,110 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1761,452,404 - 61,485,110 (+)EnsemblGRCh38hg38GRCh38
GRCh371759,529,783 - 59,562,471 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361756,888,589 - 56,916,446 (+)NCBINCBI36Build 36hg18NCBI36
Build 341756,888,588 - 56,916,446NCBI
Celera1758,634,841 - 58,662,701 (+)NCBICelera
Cytogenetic Map17q23.2NCBI
HuRef1754,900,265 - 54,928,130 (+)NCBIHuRef
CHM1_11759,598,306 - 59,626,165 (+)NCBICHM1_1
T2T-CHM13v2.01762,321,267 - 62,353,953 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (IBA,ISA)
nucleus  (IBA,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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381761,452,422 - 61,485,110 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1761,452,404 - 61,485,110 (+)EnsemblGRCh38hg38GRCh38
GRCh371759,529,783 - 59,562,471 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361756,888,589 - 56,916,446 (+)NCBINCBI36Build 36hg18NCBI36
Build 341756,888,588 - 56,916,446NCBI
Celera1758,634,841 - 58,662,701 (+)NCBICelera
Cytogenetic Map17q23.2NCBI
HuRef1754,900,265 - 54,928,130 (+)NCBIHuRef
CHM1_11759,598,306 - 59,626,165 (+)NCBICHM1_1
T2T-CHM13v2.01762,321,267 - 62,353,953 (+)NCBIT2T-CHM13v2.0
Tbx4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391185,777,193 - 85,806,923 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1185,777,248 - 85,806,923 (+)EnsemblGRCm39 Ensembl
GRCm381185,886,367 - 85,916,097 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1185,886,422 - 85,916,097 (+)EnsemblGRCm38mm10GRCm38
MGSCv371185,703,565 - 85,729,599 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361185,706,258 - 85,730,940 (+)NCBIMGSCv36mm8
Celera1195,517,399 - 95,543,455 (+)NCBICelera
Cytogenetic Map11CNCBI
cM Map1151.42NCBI
Tbx4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81071,228,145 - 71,258,222 (+)NCBIGRCr8
mRatBN7.21070,730,686 - 70,760,829 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1070,731,163 - 70,760,825 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1075,351,118 - 75,380,785 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01074,855,915 - 74,885,582 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01070,320,562 - 70,350,228 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01073,331,864 - 73,362,784 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1073,333,119 - 73,362,783 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01073,235,103 - 73,265,118 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41074,136,416 - 74,166,080 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11074,154,279 - 74,179,007 (+)NCBI
Celera1069,654,749 - 69,684,469 (+)NCBICelera
Cytogenetic Map10q26NCBI
Tbx4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554512,501,827 - 2,533,136 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554512,491,525 - 2,532,948 (+)NCBIChiLan1.0ChiLan1.0
TBX4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21977,651,294 - 77,684,008 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11782,462,735 - 82,495,443 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01755,554,549 - 55,587,253 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11760,677,518 - 60,706,206 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1760,677,518 - 60,705,413 (+)Ensemblpanpan1.1panPan2
TBX4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1935,163,346 - 35,197,726 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl935,166,353 - 35,191,932 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha934,395,807 - 34,421,394 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0935,972,610 - 36,007,370 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl935,977,705 - 36,003,297 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1934,758,715 - 34,784,294 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0935,044,477 - 35,070,057 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0935,132,002 - 35,157,583 (-)NCBIUU_Cfam_GSD_1.0
Tbx4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560234,221,462 - 34,247,634 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364902,827,416 - 2,852,917 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364902,823,531 - 2,853,282 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBX4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1236,802,354 - 36,834,327 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11236,803,355 - 36,830,321 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21238,224,618 - 38,257,155 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TBX4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11632,677,878 - 32,715,169 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1632,683,921 - 32,711,674 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660773,430,924 - 3,463,642 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tbx4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248712,366,823 - 2,390,269 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248712,365,836 - 2,390,269 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407164997GWAS813973_HFEV/FVC ratio, response to bronchodilator QTL GWAS813973 (human)0.0000009FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)176148298861482989Human
407356758GWAS1005734_HBMI-adjusted hip circumference QTL GWAS1005734 (human)1e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)176145650761456508Human
407183815GWAS832791_Hlanguage measurement QTL GWAS832791 (human)0.000005language measurement176146942661469427Human
407013014GWAS661990_Hhip bone size QTL GWAS661990 (human)3e-09hip bone size176147140061471401Human
407199715GWAS848691_Halpha-amino-N-butyric acid measurement, response to acamprosate QTL GWAS848691 (human)0.000005alpha-amino-N-butyric acid measurement, response to acamprosate176145701661457017Human
407012997GWAS661973_Hintertrochanteric region size QTL GWAS661973 (human)5e-09intertrochanteric region sizefemur morphological measurement (CMO:0001377)176147140061471401Human
406977834GWAS626810_Hgut microbiome measurement QTL GWAS626810 (human)0.0000001gut microbiome measurement176147049261470493Human
406909916GWAS558892_HBMI-adjusted waist circumference QTL GWAS558892 (human)0.000006BMI-adjusted waist circumference176145762661457627Human
407008190GWAS657166_Hfemoral neck size QTL GWAS657166 (human)5e-10femoral neck sizefemoral neck morphological measurement (CMO:0001672)176145404161454042Human
406946988GWAS595964_HBMI-adjusted waist circumference QTL GWAS595964 (human)1e-09BMI-adjusted waist circumference176145860461458605Human
407099038GWAS748014_Hinfant cerebrospinal fluid volume measurement QTL GWAS748014 (human)0.0000005infant cerebrospinal fluid volume measurement176145599261455993Human
407357401GWAS1006377_HBMI-adjusted waist circumference QTL GWAS1006377 (human)3e-09BMI-adjusted waist circumference176145650761456508Human

Markers in Region
TKY3518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371759,560,948 - 59,561,123UniSTSGRCh37
Celera1758,661,983 - 58,662,160UniSTS
HuRef1754,927,412 - 54,927,589UniSTS


Expression

RNA-SEQ Expression

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 AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1761,456,446 - 61,484,303 (+)Ensembl
Ensembl Acc Id: ENST00000586874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1761,478,363 - 61,481,346 (+)Ensembl
Ensembl Acc Id: ENST00000589003   ⟹   ENSP00000467588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1761,452,404 - 61,478,740 (+)Ensembl
Ensembl Acc Id: ENST00000589449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1761,478,351 - 61,483,370 (+)Ensembl
Ensembl Acc Id: ENST00000590174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1761,465,793 - 61,480,275 (+)Ensembl
Ensembl Acc Id: ENST00000593249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1761,464,214 - 61,478,789 (+)Ensembl
Ensembl Acc Id: ENST00000642491   ⟹   ENSP00000495714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1761,456,464 - 61,483,997 (+)Ensembl
Ensembl Acc Id: ENST00000644296   ⟹   ENSP00000495986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1761,452,422 - 61,485,110 (+)Ensembl
RefSeq Acc Id: NM_001321120   ⟹   NP_001308049
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381761,452,422 - 61,485,110 (+)NCBI
CHM1_11759,594,278 - 59,626,976 (+)NCBI
T2T-CHM13v2.01762,321,267 - 62,353,953 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018488   ⟹   NP_060958
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381761,456,488 - 61,485,110 (+)NCBI
GRCh371759,529,134 - 59,562,471 (+)NCBI
Build 361756,888,589 - 56,916,446 (+)NCBI Archive
Celera1758,634,841 - 58,662,701 (+)RGD
HuRef1754,900,265 - 54,928,130 (+)ENTREZGENE
CHM1_11759,598,348 - 59,626,976 (+)NCBI
T2T-CHM13v2.01762,325,333 - 62,353,953 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525490   ⟹   XP_011523792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381761,455,113 - 61,485,110 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525491   ⟹   XP_011523793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381761,455,113 - 61,485,110 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525495   ⟹   XP_011523797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381761,455,111 - 61,481,800 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054317870   ⟹   XP_054173845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01762,323,958 - 62,353,953 (+)NCBI
RefSeq Acc Id: XM_054317871   ⟹   XP_054173846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01762,323,958 - 62,353,953 (+)NCBI
RefSeq Acc Id: XM_054317872   ⟹   XP_054173847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01762,323,956 - 62,350,643 (+)NCBI
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:
RefSeq Acc Id: XP_011523797   ⟸   XM_011525495
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011523792   ⟸   XM_011525490
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011523793   ⟸   XM_011525491
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001308049   ⟸   NM_001321120
- Peptide Label: isoform 1
- UniProtKB: P57082 (UniProtKB/Swiss-Prot)
- 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 AssemblyChrPosition (strand)Source
GRCh381761,452,422 - 61,452,482EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh381761,478,275 - 61,478,335EPDNEW

Additional Information

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