TBX5 (T-box transcription factor 5) - Rat Genome Database

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Gene: TBX5 (T-box transcription factor 5) Homo sapiens
Analyze
Symbol: TBX5
Name: T-box transcription factor 5
RGD ID: 1313887
HGNC Page HGNC
Description: Enables DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription factor binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including embryonic forelimb morphogenesis; negative regulation of cardiac muscle cell proliferation; and positive regulation of cardioblast differentiation. Acts upstream of or within forelimb morphogenesis. Located in cytoplasm and nucleus. Part of protein-DNA complex. Implicated in Holt-Oram syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HOS; T-box 5; T-box protein 5; T-box transcription factor TBX5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12114,353,911 - 114,408,442 (-)EnsemblGRCh38hg38GRCh38
GRCh3812114,353,911 - 114,408,708 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712114,791,716 - 114,846,247 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612113,276,118 - 113,330,630 (-)NCBINCBI36hg18NCBI36
Celera12114,419,103 - 114,473,633 (-)NCBI
Cytogenetic Map12q24.21NCBI
HuRef12111,801,135 - 111,855,628 (-)NCBIHuRef
CHM1_112114,759,933 - 114,814,388 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
atrial septum development  (ISO)
atrial septum morphogenesis  (IEA,ISO)
atrioventricular bundle cell differentiation  (ISS)
atrioventricular node cell development  (ISS)
atrioventricular node cell fate commitment  (ISS)
atrioventricular valve morphogenesis  (IEA,ISO)
bundle of His cell to Purkinje myocyte communication by electrical coupling  (ISO,ISS)
bundle of His development  (ISO,ISS)
cardiac left ventricle formation  (IBA,ISS)
cardiac muscle cell differentiation  (ISO)
cell fate specification  (IBA)
cell migration involved in coronary vasculogenesis  (TAS)
cell-cell signaling  (IDA)
cell-cell signaling involved in cardiac conduction  (ISO,ISS)
embryonic forelimb morphogenesis  (IBA,IMP,ISO)
embryonic limb morphogenesis  (IMP,ISO)
endocardial cushion development  (IEA,ISO)
forelimb morphogenesis  (IMP)
heart development  (IDA,IMP)
lung development  (IEA,ISO)
morphogenesis of an epithelium  (IEA,ISO)
negative regulation of cardiac muscle cell proliferation  (IDA)
negative regulation of cell migration  (IDA)
negative regulation of cell population proliferation  (IDA)
negative regulation of epithelial to mesenchymal transition  (TAS)
pattern specification process  (IBA,ISO)
pericardium development  (IDA)
positive regulation of cardiac conduction  (ISS)
positive regulation of cardiac muscle cell proliferation  (IEA,ISO)
positive regulation of cardioblast differentiation  (IDA)
positive regulation of cell communication by electrical coupling involved in cardiac conduction  (TAS)
positive regulation of gap junction assembly  (ISS)
positive regulation of secondary heart field cardioblast proliferation  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IMP,ISO,ISS)
positive regulation of transcription, DNA-templated  (IDA,ISO)
regulation of atrial cardiac muscle cell membrane depolarization  (ISO,ISS)
regulation of transcription by RNA polymerase II  (IBA)
regulation of transcription, DNA-templated  (ISO)
transdifferentiation  (ISO)
ventricular cardiac muscle tissue development  (ISO)
ventricular septum development  (ISS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal clavicle morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal thrombocyte morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of radial ray  (IAGP)
Abnormality of the carpal bones  (IAGP)
Abnormality of the humerus  (IAGP)
Abnormality of the metacarpal bones  (IAGP)
Abnormality of the ribs  (IAGP)
Absent radius  (IAGP)
Absent thumb  (IAGP)
Anomalous pulmonary venous return  (IAGP)
Aplasia of the pectoralis major muscle  (IAGP)
Aplasia of the ulna  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Atrial septal defect  (IAGP)
Atrioventricular canal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Blue nevus  (IAGP)
Broad thumb  (IAGP)
Clubbing of fingers  (IAGP)
Decreased platelet glycoprotein IIb-IIIa  (IAGP)
Dilated cardiomyopathy  (IAGP)
Down-sloping shoulders  (IAGP)
Finger clinodactyly  (IAGP)
Finger syndactyly  (IAGP)
First degree atrioventricular block  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypoplastic left heart  (IAGP)
Joint stiffness  (IAGP)
Kyphosis  (IAGP)
Left ventricular noncompaction cardiomyopathy  (IAGP)
Limited elbow extension  (IAGP)
Paroxysmal atrial fibrillation  (IAGP)
Partial duplication of thumb phalanx  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Phocomelia  (IAGP)
Radioulnar synostosis  (IAGP)
Scoliosis  (IAGP)
Secundum atrial septal defect  (IAGP)
Short clavicles  (IAGP)
Short digit  (IAGP)
Short humerus  (IAGP)
Short thumb  (IAGP)
Small thenar eminence  (IAGP)
Split hand  (IAGP)
Sprengel anomaly  (IAGP)
Syndactyly  (IAGP)
Thoracic scoliosis  (IAGP)
Triphalangeal thumb  (IAGP)
Ventricular septal defect  (IAGP)
References

Additional References at PubMed
PMID:8054982   PMID:8988164   PMID:10077612   PMID:10199965   PMID:10842287   PMID:10974675   PMID:11161571   PMID:11183182   PMID:11431700   PMID:11748310   PMID:12237100   PMID:12477932  
PMID:12499378   PMID:12668595   PMID:12818525   PMID:12845333   PMID:12858531   PMID:14519429   PMID:15087119   PMID:15138308   PMID:15221798   PMID:15289437   PMID:15489334   PMID:15591049  
PMID:15653675   PMID:16183809   PMID:16332960   PMID:16344560   PMID:16917909   PMID:17273972   PMID:17534187   PMID:17584735   PMID:18378906   PMID:18701034   PMID:18726671   PMID:18828908  
PMID:19187613   PMID:19274049   PMID:19336370   PMID:19430479   PMID:19586889   PMID:19648116   PMID:19913121   PMID:20062060   PMID:20062063   PMID:20299672   PMID:20301290   PMID:20379614  
PMID:20414254   PMID:20450920   PMID:20628086   PMID:20677014   PMID:20802524   PMID:20975709   PMID:21045733   PMID:21076409   PMID:21347284   PMID:21752519   PMID:21873635   PMID:21909110  
PMID:22011241   PMID:22192413   PMID:22333898   PMID:22414880   PMID:22532574   PMID:22543974   PMID:22589738   PMID:22837378   PMID:22901678   PMID:23139255   PMID:23245941   PMID:23251661  
PMID:23509962   PMID:23535732   PMID:23717681   PMID:24000169   PMID:24408148   PMID:24565863   PMID:24664498   PMID:24714979   PMID:24817716   PMID:25035420   PMID:25124494   PMID:25194280  
PMID:25216260   PMID:25245104   PMID:25263169   PMID:25320281   PMID:25416133   PMID:25426816   PMID:25447851   PMID:25623069   PMID:25680289   PMID:25725155   PMID:25725482   PMID:25963046  
PMID:26071180   PMID:26401820   PMID:26575833   PMID:26744331   PMID:26749485   PMID:26762269   PMID:26780237   PMID:26783083   PMID:26859351   PMID:26890086   PMID:26917986   PMID:26926761  
PMID:27005929   PMID:27035640   PMID:27036009   PMID:27426723   PMID:27479212   PMID:27553283   PMID:27958623   PMID:28276311   PMID:28434921   PMID:28469241   PMID:28606231   PMID:28782180  
PMID:29174768   PMID:29180489   PMID:29545315   PMID:29972125   PMID:30353147   PMID:30834692   PMID:31373354   PMID:31388035   PMID:31586073   PMID:31775637   PMID:31784580   PMID:32236096  
PMID:32293321   PMID:32296183   PMID:32368852   PMID:32449309   PMID:32641638   PMID:32810974   PMID:33221539   PMID:33321106   PMID:33369127   PMID:33866394   PMID:33930582  


Genomics

Comparative Map Data
TBX5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12114,353,911 - 114,408,442 (-)EnsemblGRCh38hg38GRCh38
GRCh3812114,353,911 - 114,408,708 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712114,791,716 - 114,846,247 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612113,276,118 - 113,330,630 (-)NCBINCBI36hg18NCBI36
Celera12114,419,103 - 114,473,633 (-)NCBI
Cytogenetic Map12q24.21NCBI
HuRef12111,801,135 - 111,855,628 (-)NCBIHuRef
CHM1_112114,759,933 - 114,814,388 (-)NCBICHM1_1
Tbx5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395119,934,581 - 120,023,285 (+)NCBIGRCm39mm39
GRCm39 Ensembl5119,970,733 - 120,023,284 (+)Ensembl
GRCm385119,796,514 - 119,885,220 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5119,832,668 - 119,885,219 (+)EnsemblGRCm38mm10GRCm38
MGSCv375120,284,672 - 120,335,227 (+)NCBIGRCm37mm9NCBIm37
MGSCv365120,095,280 - 120,145,092 (+)NCBImm8
Celera5116,903,647 - 116,978,836 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map560.42NCBI
Tbx5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21236,686,344 - 36,739,253 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1236,688,014 - 36,734,885 (-)Ensembl
Rnor_6.01242,059,688 - 42,148,226 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1242,097,626 - 42,148,146 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01243,909,016 - 43,998,121 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41237,956,658 - 38,004,255 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11237,820,045 - 37,867,643 (-)NCBI
Celera1238,362,373 - 38,409,445 (-)NCBICelera
Cytogenetic Map12q16NCBI
Tbx5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545516,132,975 - 16,217,953 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545516,133,130 - 16,217,894 (+)NCBIChiLan1.0ChiLan1.0
TBX5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.112115,336,267 - 115,389,739 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12115,333,609 - 115,389,739 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v012111,954,222 - 112,009,261 (-)NCBIMhudiblu_PPA_v0panPan3
TBX5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12611,462,541 - 11,549,699 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2611,463,653 - 11,506,446 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2611,520,894 - 11,607,938 (-)NCBI
ROS_Cfam_1.02611,714,458 - 11,801,523 (-)NCBI
UMICH_Zoey_3.12611,682,098 - 11,768,911 (-)NCBI
UNSW_CanFamBas_1.02611,744,240 - 11,831,307 (-)NCBI
UU_Cfam_GSD_1.02611,794,191 - 11,881,084 (-)NCBI
Tbx5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118152,025,875 - 152,066,905 (-)NCBI
SpeTri2.0NW_0049365587,408,229 - 7,454,897 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBX5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1437,773,605 - 37,824,400 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11437,772,205 - 37,826,015 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21440,161,963 - 40,260,936 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TBX5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111109,638,694 - 109,696,619 (-)NCBI
ChlSab1.1 Ensembl11109,638,715 - 109,689,177 (-)Ensembl
Vero_WHO_p1.0NW_023666037135,422,975 - 135,477,375 (+)NCBI
Tbx5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474718,307,294 - 18,348,040 (+)NCBI

Position Markers
D12S1646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712114,810,648 - 114,810,904UniSTSGRCh37
Build 3612113,295,031 - 113,295,287RGDNCBI36
Celera12114,438,030 - 114,438,286RGD
Cytogenetic Map12q24.1UniSTS
HuRef12111,820,039 - 111,820,293UniSTS
Marshfield Genetic Map12121.84RGD
Marshfield Genetic Map12121.84UniSTS
Genethon Genetic Map12122.8UniSTS
Stanford-G3 RH Map124981.0UniSTS
GeneMap99-GB4 RH Map12446.59UniSTS
GeneMap99-G3 RH Map124927.0UniSTS
RH103950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712114,847,707 - 114,847,871UniSTSGRCh37
Build 3612113,332,090 - 113,332,254RGDNCBI36
Celera12114,475,093 - 114,475,257RGD
Cytogenetic Map12q24.21UniSTS
Cytogenetic Map12q24.1UniSTS
HuRef12111,857,088 - 111,857,252UniSTS
GeneMap99-GB4 RH Map12443.37UniSTS
SHGC-150881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712114,810,639 - 114,810,917UniSTSGRCh37
Build 3612113,295,022 - 113,295,300RGDNCBI36
Celera12114,438,021 - 114,438,299RGD
Cytogenetic Map12q24.1UniSTS
HuRef12111,820,030 - 111,820,306UniSTS
TNG Radiation Hybrid Map388078.0UniSTS
TNG Radiation Hybrid Map1255872.0UniSTS
TBX5_2215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712114,793,090 - 114,793,882UniSTSGRCh37
Build 3612113,277,473 - 113,278,265RGDNCBI36
Celera12114,420,457 - 114,421,249RGD
HuRef12111,802,489 - 111,803,281UniSTS
RH70967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712114,793,189 - 114,793,330UniSTSGRCh37
Build 3612113,277,572 - 113,277,713RGDNCBI36
Celera12114,420,556 - 114,420,697RGD
Cytogenetic Map12q24.1UniSTS
HuRef12111,802,588 - 111,802,729UniSTS
GeneMap99-GB4 RH Map12447.23UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1536
Count of miRNA genes:624
Interacting mature miRNAs:701
Transcripts:ENST00000310346, ENST00000349716, ENST00000405440, ENST00000526441, ENST00000552726
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 748 763 36 1 1 1 20 1015 2 14 49 627 13 1
Low 169 427 481 4 19 4 1645 312 333 36 344 579 667 493 1
Below cutoff 855 1211 701 261 673 149 1941 607 2653 80 739 200 113 1 482 1743 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB051068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF221714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB960757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA863182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U80987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U89353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y09445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000310346   ⟹   ENSP00000309913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12114,353,931 - 114,408,442 (-)Ensembl
RefSeq Acc Id: ENST00000349716   ⟹   ENSP00000337723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12114,353,931 - 114,408,387 (-)Ensembl
RefSeq Acc Id: ENST00000405440   ⟹   ENSP00000384152
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12114,353,911 - 114,406,144 (-)Ensembl
RefSeq Acc Id: ENST00000526441   ⟹   ENSP00000433292
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12114,366,097 - 114,403,898 (-)Ensembl
RefSeq Acc Id: ENST00000552726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12114,394,878 - 114,403,949 (-)Ensembl
RefSeq Acc Id: NM_000192   ⟹   NP_000183
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812114,353,930 - 114,408,442 (-)NCBI
GRCh3712114,791,735 - 114,846,247 (-)ENTREZGENE
Build 3612113,276,118 - 113,330,630 (-)NCBI Archive
HuRef12111,801,135 - 111,855,628 (-)ENTREZGENE
CHM1_112114,759,933 - 114,814,388 (-)NCBI
Sequence:
RefSeq Acc Id: NM_080717   ⟹   NP_542448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812114,353,911 - 114,408,012 (-)NCBI
GRCh3712114,791,735 - 114,846,247 (-)ENTREZGENE
Build 3612113,276,118 - 113,330,630 (-)NCBI Archive
HuRef12111,801,135 - 111,855,628 (-)ENTREZGENE
CHM1_112114,759,933 - 114,814,388 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181486   ⟹   NP_852259
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812114,353,911 - 114,406,144 (-)NCBI
GRCh3712114,791,735 - 114,846,247 (-)ENTREZGENE
Build 3612113,276,118 - 113,328,272 (-)NCBI Archive
HuRef12111,801,135 - 111,855,628 (-)ENTREZGENE
CHM1_112114,759,933 - 114,812,109 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019912   ⟹   XP_016875401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812114,353,911 - 114,408,708 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_542448   ⟸   NM_080717
- Peptide Label: isoform 3
- UniProtKB: Q99593 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000183   ⟸   NM_000192
- Peptide Label: isoform 1
- UniProtKB: Q99593 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_852259   ⟸   NM_181486
- Peptide Label: isoform 1
- UniProtKB: Q99593 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016875401   ⟸   XM_017019912
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000337723   ⟸   ENST00000349716
RefSeq Acc Id: ENSP00000309913   ⟸   ENST00000310346
RefSeq Acc Id: ENSP00000384152   ⟸   ENST00000405440
RefSeq Acc Id: ENSP00000433292   ⟸   ENST00000526441

Promoters
RGD ID:7225507
Promoter ID:EPDNEW_H18499
Type:initiation region
Name:TBX5_1
Description:T-box 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18500  EPDNEW_H18501  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812114,406,144 - 114,406,204EPDNEW
RGD ID:7225509
Promoter ID:EPDNEW_H18500
Type:initiation region
Name:TBX5_2
Description:T-box 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18499  EPDNEW_H18501  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812114,408,012 - 114,408,072EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000192.3(TBX5):c.164_165del (p.Lys55fs) deletion not provided [RCV000519169] Chr12:114401903..114401904 [GRCh38]
Chr12:114839708..114839709 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.1064G>A (p.Arg355His) single nucleotide variant Aortic valve disease 2 [RCV000554045] Chr12:114356025 [GRCh38]
Chr12:114793830 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.1115C>T (p.Ser372Leu) single nucleotide variant Aortic valve disease 2 [RCV000532471]|Cardiovascular phenotype [RCV000621377]|Holt-Oram syndrome [RCV001114222] Chr12:114355974 [GRCh38]
Chr12:114793779 [GRCh37]
Chr12:12q24.21
benign|likely benign|uncertain significance
NM_000192.3(TBX5):c.300del (p.Lys99_Tyr100insTer) deletion not provided [RCV000522206] Chr12:114399575 [GRCh38]
Chr12:114837380 [GRCh37]
Chr12:12q24.21
pathogenic
TBX5, 1491C-T single nucleotide variant Holt-Oram syndrome [RCV000008455] Chr12:12q24.1 pathogenic
NM_000192.3(TBX5):c.416del (p.Pro139fs) deletion Holt-Oram syndrome [RCV000008460] Chr12:114398667 [GRCh38]
Chr12:114836472 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.668C>T (p.Thr223Met) single nucleotide variant Aortic valve disease 2 [RCV000654913]|Holt-Oram syndrome [RCV000782334]|not provided [RCV000519158] Chr12:114385563 [GRCh38]
Chr12:114823368 [GRCh37]
Chr12:12q24.21
pathogenic|likely pathogenic
NM_000192.3(TBX5):c.322C>T (p.Pro108Ser) single nucleotide variant Aortic valve disease 2 [RCV000547068] Chr12:114399553 [GRCh38]
Chr12:114837358 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.205G>T (p.Glu69Ter) single nucleotide variant Holt-Oram syndrome [RCV000008456]|not provided [RCV000760324] Chr12:114401863 [GRCh38]
Chr12:114839668 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) single nucleotide variant Aortic valve disease 2 [RCV000474989]|Holt-Oram syndrome [RCV000008457]|not provided [RCV000196777] Chr12:114385521 [GRCh38]
Chr12:114823326 [GRCh37]
Chr12:12q24.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000192.3(TBX5):c.238G>A (p.Gly80Arg) single nucleotide variant Holt-Oram syndrome [RCV000008458] Chr12:114401830 [GRCh38]
Chr12:114839635 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.709C>T (p.Arg237Trp) single nucleotide variant Aortic valve disease 2 [RCV000473181]|Heart, malformation of [RCV000128627]|Holt-Oram syndrome [RCV000008459] Chr12:114385522 [GRCh38]
Chr12:114823327 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.145C>A (p.Gln49Lys) single nucleotide variant Holt-Oram syndrome [RCV000008461] Chr12:114403754 [GRCh38]
Chr12:114841559 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.161T>C (p.Ile54Thr) single nucleotide variant Holt-Oram syndrome [RCV000008462] Chr12:114401907 [GRCh38]
Chr12:114839712 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.408C>A (p.Tyr136Ter) single nucleotide variant Holt-Oram syndrome [RCV000008463] Chr12:114398675 [GRCh38]
Chr12:114836480 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.1232C>T (p.Thr411Ile) single nucleotide variant Malignant melanoma [RCV000069831] Chr12:114355857 [GRCh38]
Chr12:114793662 [GRCh37]
Chr12:113278045 [NCBI36]
Chr12:12q24.21
not provided
NM_000192.3(TBX5):c.985G>A (p.Glu329Lys) single nucleotide variant Malignant melanoma [RCV000062414] Chr12:114356104 [GRCh38]
Chr12:114793909 [GRCh37]
Chr12:113278292 [NCBI36]
Chr12:12q24.21
not provided
NM_000192.3(TBX5):c.114C>T (p.Ser38=) single nucleotide variant Aortic valve disease 2 [RCV000861970]|Cardiovascular phenotype [RCV000620844]|Holt-Oram syndrome [RCV000270706]|not provided [RCV001536612]|not specified [RCV000175545] Chr12:114403785 [GRCh38]
Chr12:114841590 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_181486.4(TBX5):c.293C>T (p.Thr98Met) single nucleotide variant Aortic valve disease 2 [RCV001303559] Chr12:114399582 [GRCh38]
Chr12:114837387 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.338G>A (p.Arg113Lys) single nucleotide variant not provided [RCV000128532] Chr12:114399537 [GRCh38]
Chr12:114837342 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.663+36G>T single nucleotide variant not provided [RCV000128533]|not specified [RCV000251038] Chr12:114394705 [GRCh38]
Chr12:114832510 [GRCh37]
Chr12:12q24.21
benign|uncertain significance
NM_000192.3(TBX5):c.301A>T (p.Ile101Phe) single nucleotide variant Heart, malformation of [RCV000128626] Chr12:114399574 [GRCh38]
Chr12:114837379 [GRCh37]
Chr12:12q24.21
likely pathogenic
GRCh38/hg38 12q24.21(chr12:114390252-114394865)x1 copy number loss See cases [RCV000137751] Chr12:114390252..114394865 [GRCh38]
Chr12:114828057..114832670 [GRCh37]
Chr12:113312440..113317053 [NCBI36]
Chr12:12q24.21
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1 copy number loss See cases [RCV000143532] Chr12:113077775..114372366 [GRCh38]
Chr12:113515580..114810171 [GRCh37]
Chr12:111999963..113294554 [NCBI36]
Chr12:12q24.13-24.21
pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
NM_000192.3(TBX5):c.787G>A (p.Val263Met) single nucleotide variant Aortic valve disease 2 [RCV001087118]|Cardiovascular phenotype [RCV000620833]|Holt-Oram syndrome [RCV000299054]|not provided [RCV000515032]|not specified [RCV000180104] Chr12:114366360 [GRCh38]
Chr12:114804165 [GRCh37]
Chr12:12q24.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000192.3(TBX5):c.755G>C (p.Ser252Thr) single nucleotide variant Holt-Oram syndrome [RCV000782337]|not provided [RCV000255260] Chr12:114385476 [GRCh38]
Chr12:114823281 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.835C>T (p.Arg279Ter) single nucleotide variant Aortic valve disease 2 [RCV000459213]|Holt-Oram syndrome [RCV000782289]|not provided [RCV000196593] Chr12:114366312 [GRCh38]
Chr12:114804117 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.468_484del (p.Lys157fs) deletion not provided [RCV000196710] Chr12:114398599..114398615 [GRCh38]
Chr12:114836404..114836420 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.142C>T (p.Gln48Ter) single nucleotide variant Aortic valve disease 2 [RCV001390030]|not provided [RCV000200559] Chr12:114403757 [GRCh38]
Chr12:114841562 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.373G>C (p.Gly125Arg) single nucleotide variant not provided [RCV000200855] Chr12:114398710 [GRCh38]
Chr12:114836515 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.1126C>T (p.Gln376Ter) single nucleotide variant not provided [RCV000197304] Chr12:114355963 [GRCh38]
Chr12:114793768 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.611dup (p.His204fs) duplication not provided [RCV000197595] Chr12:114394792..114394793 [GRCh38]
Chr12:114832597..114832598 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.420_432del (p.Asp140fs) deletion not provided [RCV000197711] Chr12:114398651..114398663 [GRCh38]
Chr12:114836456..114836468 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.242+5G>T single nucleotide variant not provided [RCV000197866] Chr12:114401821 [GRCh38]
Chr12:114839626 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) single nucleotide variant Aortic valve disease 2 [RCV001079884]|Cardiovascular phenotype [RCV000246432]|Holt-Oram syndrome [RCV000302138]|not provided [RCV000420809]|not specified [RCV000198075] Chr12:114399544 [GRCh38]
Chr12:114837349 [GRCh37]
Chr12:12q24.21
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000192.3(TBX5):c.466C>T (p.Gln156Ter) single nucleotide variant not provided [RCV000198473] Chr12:114398617 [GRCh38]
Chr12:114836422 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.309C>T (p.Leu103=) single nucleotide variant Aortic valve disease 2 [RCV000468582]|Cardiovascular phenotype [RCV000621453]|Holt-Oram syndrome [RCV000329123]|not provided [RCV000587262] Chr12:114399566 [GRCh38]
Chr12:114837371 [GRCh37]
Chr12:12q24.21
benign
NM_000192.3(TBX5):c.215C>A (p.Thr72Lys) single nucleotide variant not provided [RCV000198872] Chr12:114401853 [GRCh38]
Chr12:114839658 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.755G>A (p.Ser252Asn) single nucleotide variant not provided [RCV000198982] Chr12:114385476 [GRCh38]
Chr12:114823281 [GRCh37]
Chr12:12q24.21
pathogenic|likely pathogenic
NM_000192.3(TBX5):c.376_402del (p.Lys126_Arg134del) deletion not provided [RCV000195513] Chr12:114398681..114398707 [GRCh38]
Chr12:114836486..114836512 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.220A>G (p.Met74Val) single nucleotide variant not provided [RCV000195628] Chr12:114401848 [GRCh38]
Chr12:114839653 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.316A>G (p.Ile106Val) single nucleotide variant Aortic valve disease 2 [RCV001080388]|Cardiovascular phenotype [RCV000618876]|Holt-Oram syndrome [RCV000271791]|not provided [RCV000514832] Chr12:114399559 [GRCh38]
Chr12:114837364 [GRCh37]
Chr12:12q24.21
benign|likely benign|uncertain significance
NM_000192.3(TBX5):c.363-1G>T single nucleotide variant not provided [RCV000199799] Chr12:114398721 [GRCh38]
Chr12:114836526 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.433G>T (p.Gly145Trp) single nucleotide variant not specified [RCV000196239] Chr12:114398650 [GRCh38]
Chr12:114836455 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.421_443delinsCCAGGA (p.Ser141fs) indel not provided [RCV000199954] Chr12:114398640..114398662 [GRCh38]
Chr12:114836445..114836467 [GRCh37]
Chr12:12q24.21
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_000192.3(TBX5):c.958del (p.Ile320fs) deletion Aortic valve disease 2 [RCV000227368] Chr12:114366189 [GRCh38]
Chr12:114803994 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.786C>T (p.Thr262=) single nucleotide variant Aortic valve disease 2 [RCV001514005]|Holt-Oram syndrome [RCV000360501]|not provided [RCV000864590]|not specified [RCV000314668] Chr12:114366361 [GRCh38]
Chr12:114804166 [GRCh37]
Chr12:12q24.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_000192.3(TBX5):c.781A>T (p.Ser261Cys) single nucleotide variant Cardiovascular phenotype [RCV000622169] Chr12:114366366 [GRCh38]
Chr12:114804171 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*40A>G single nucleotide variant Holt-Oram syndrome [RCV000343617]|not specified [RCV000253579] Chr12:114355492 [GRCh38]
Chr12:114793297 [GRCh37]
Chr12:12q24.21
benign
NM_000192.3(TBX5):c.836G>A (p.Arg279Gln) single nucleotide variant Aortic valve disease 2 [RCV001083368]|Cardiovascular phenotype [RCV000244075]|Primary dilated cardiomyopathy [RCV001293126]|not provided [RCV000489388] Chr12:114366311 [GRCh38]
Chr12:114804116 [GRCh37]
Chr12:12q24.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000192.3(TBX5):c.55G>T (p.Ala19Ser) single nucleotide variant Aortic valve disease 2 [RCV001088685]|Cardiovascular phenotype [RCV000244681]|Holt-Oram syndrome [RCV000292317]|not provided [RCV000596892] Chr12:114403844 [GRCh38]
Chr12:114841649 [GRCh37]
Chr12:12q24.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000192.3(TBX5):c.755+35A>G single nucleotide variant not specified [RCV000242795] Chr12:114385441 [GRCh38]
Chr12:114823246 [GRCh37]
Chr12:12q24.21
likely benign
NM_000192.3(TBX5):c.982+16C>T single nucleotide variant not provided [RCV000514898]|not specified [RCV000247979] Chr12:114366149 [GRCh38]
Chr12:114803954 [GRCh37]
Chr12:12q24.21
likely benign
NM_000192.3(TBX5):c.1152G>A (p.Ala384=) single nucleotide variant Holt-Oram syndrome [RCV000407063]|not specified [RCV000245819] Chr12:114355937 [GRCh38]
Chr12:114793742 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.260A>G (p.Tyr87Cys) single nucleotide variant Aortic valve disease 2 [RCV001364631]|Cardiovascular phenotype [RCV000245821] Chr12:114399615 [GRCh38]
Chr12:114837420 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.1281C>T (p.Ser427=) single nucleotide variant Aortic valve disease 2 [RCV001084555]|Cardiovascular phenotype [RCV000621807]|Holt-Oram syndrome [RCV000349378]|not provided [RCV000590823]|not specified [RCV000250546] Chr12:114355808 [GRCh38]
Chr12:114793613 [GRCh37]
Chr12:12q24.21
benign
NM_000192.3(TBX5):c.663+34C>T single nucleotide variant not specified [RCV000245909] Chr12:114394707 [GRCh38]
Chr12:114832512 [GRCh37]
Chr12:12q24.21
benign
NM_000192.3(TBX5):c.576T>C (p.Asn192=) single nucleotide variant Cardiovascular phenotype [RCV000250843] Chr12:114394828 [GRCh38]
Chr12:114832633 [GRCh37]
Chr12:12q24.21
likely benign
NM_000192.3(TBX5):c.1123C>T (p.Arg375Trp) single nucleotide variant Holt-Oram syndrome [RCV000300084] Chr12:114355966 [GRCh38]
Chr12:114793771 [GRCh37]
Chr12:12q24.21
benign|uncertain significance
NM_000192.3(TBX5):c.*524A>T single nucleotide variant Holt-Oram syndrome [RCV000300039] Chr12:114355008 [GRCh38]
Chr12:114792813 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.354T>C (p.Asp118=) single nucleotide variant Aortic valve disease 2 [RCV001519181]|Cardiovascular phenotype [RCV000621058]|Holt-Oram syndrome [RCV000268178]|not provided [RCV001311318] Chr12:114399521 [GRCh38]
Chr12:114837326 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.-586C>G single nucleotide variant Holt-Oram syndrome [RCV000303286] Chr12:114408361 [GRCh38]
Chr12:114846166 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.*306C>T single nucleotide variant Holt-Oram syndrome [RCV000324730] Chr12:114355226 [GRCh38]
Chr12:114793031 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.*1477_*1480del deletion Holt-Oram syndrome [RCV000303527] Chr12:114354052..114354055 [GRCh38]
Chr12:114791857..114791860 [GRCh37]
Chr12:12q24.21
likely benign
NM_000192.3(TBX5):c.-449G>C single nucleotide variant Holt-Oram syndrome [RCV000304380] Chr12:114408224 [GRCh38]
Chr12:114846029 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.-664G>A single nucleotide variant Holt-Oram syndrome [RCV000306716] Chr12:114408439 [GRCh38]
Chr12:114846244 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.*1101A>G single nucleotide variant Holt-Oram syndrome [RCV000273486]|not provided [RCV001539907] Chr12:114354431 [GRCh38]
Chr12:114792236 [GRCh37]
Chr12:12q24.21
benign
NM_000192.3(TBX5):c.*77A>G single nucleotide variant Holt-Oram syndrome [RCV000290975] Chr12:114355455 [GRCh38]
Chr12:114793260 [GRCh37]
Chr12:12q24.21
benign
NM_000192.3(TBX5):c.*1373G>T single nucleotide variant Holt-Oram syndrome [RCV000309364] Chr12:114354159 [GRCh38]
Chr12:114791964 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.-305C>A single nucleotide variant Holt-Oram syndrome [RCV000334276] Chr12:114408080 [GRCh38]
Chr12:114845885 [GRCh37]
Chr12:12q24.21
benign
NM_000192.3(TBX5):c.*97G>A single nucleotide variant Holt-Oram syndrome [RCV000383069]|not specified [RCV001530020] Chr12:114355435 [GRCh38]
Chr12:114793240 [GRCh37]
Chr12:12q24.21
benign
NM_000192.3(TBX5):c.*1385del deletion Holt-Oram syndrome [RCV000405964] Chr12:114354147 [GRCh38]
Chr12:114791952 [GRCh37]
Chr12:12q24.21
benign
NM_000192.3(TBX5):c.-648C>G single nucleotide variant Holt-Oram syndrome [RCV000406465] Chr12:114408423 [GRCh38]
Chr12:114846228 [GRCh37]
Chr12:12q24.21
benign
NM_000192.3(TBX5):c.*384T>C single nucleotide variant Holt-Oram syndrome [RCV000260111] Chr12:114355148 [GRCh38]
Chr12:114792953 [GRCh37]
Chr12:12q24.21
benign
NM_000192.3(TBX5):c.*1331T>G single nucleotide variant Holt-Oram syndrome [RCV000362444] Chr12:114354201 [GRCh38]
Chr12:114792006 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.*4G>T single nucleotide variant Holt-Oram syndrome [RCV000388732] Chr12:114355528 [GRCh38]
Chr12:114793333 [GRCh37]
Chr12:12q24.21
benign|uncertain significance
NM_000192.3(TBX5):c.1313G>A (p.Arg438Gln) single nucleotide variant Holt-Oram syndrome [RCV000296666] Chr12:114355776 [GRCh38]
Chr12:114793581 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.-255G>T single nucleotide variant Holt-Oram syndrome [RCV000281703] Chr12:114408030 [GRCh38]
Chr12:114845835 [GRCh37]
Chr12:12q24.21
likely benign|uncertain significance
NM_000192.3(TBX5):c.*812C>T single nucleotide variant Holt-Oram syndrome [RCV000340596] Chr12:114354720 [GRCh38]
Chr12:114792525 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.*909A>G single nucleotide variant Holt-Oram syndrome [RCV000279283] Chr12:114354623 [GRCh38]
Chr12:114792428 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.-481T>C single nucleotide variant Holt-Oram syndrome [RCV000342848] Chr12:114408256 [GRCh38]
Chr12:114846061 [GRCh37]
Chr12:12q24.21
likely benign|uncertain significance
NM_000192.3(TBX5):c.*129A>G single nucleotide variant Holt-Oram syndrome [RCV000321549] Chr12:114355403 [GRCh38]
Chr12:114793208 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*563G>A single nucleotide variant Holt-Oram syndrome [RCV000367556] Chr12:114354969 [GRCh38]
Chr12:114792774 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.-545C>T single nucleotide variant Holt-Oram syndrome [RCV000392355] Chr12:114408320 [GRCh38]
Chr12:114846125 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.*739T>C single nucleotide variant Holt-Oram syndrome [RCV000393676] Chr12:114354793 [GRCh38]
Chr12:114792598 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.587C>A (p.Ser196Ter) single nucleotide variant Aortic valve disease 2 [RCV000654912]|Holt-Oram syndrome [RCV000782331]|Inborn genetic diseases [RCV001265928]|not provided [RCV000277503] Chr12:114394817 [GRCh38]
Chr12:114832622 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.466del (p.Gln156fs) deletion not provided [RCV000290983] Chr12:114398617 [GRCh38]
Chr12:114836422 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.*702T>C single nucleotide variant Holt-Oram syndrome [RCV000370909] Chr12:114354830 [GRCh38]
Chr12:114792635 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.242+4A>G single nucleotide variant not provided [RCV000380029] Chr12:114401822 [GRCh38]
Chr12:114839627 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.-39+12C>A single nucleotide variant Holt-Oram syndrome [RCV000373858]|not specified [RCV000614532] Chr12:114407802 [GRCh38]
Chr12:114845607 [GRCh37]
Chr12:12q24.21
benign
NM_000192.3(TBX5):c.*545C>G single nucleotide variant Holt-Oram syndrome [RCV000263486] Chr12:114354987 [GRCh38]
Chr12:114792792 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.1151C>T (p.Ala384Val) single nucleotide variant not provided [RCV000317914] Chr12:114355938 [GRCh38]
Chr12:114793743 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*147T>C single nucleotide variant Holt-Oram syndrome [RCV000264096] Chr12:114355385 [GRCh38]
Chr12:114793190 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*673C>T single nucleotide variant Holt-Oram syndrome [RCV000403617] Chr12:114354859 [GRCh38]
Chr12:114792664 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.68C>A (p.Pro23His) single nucleotide variant Aortic valve disease 2 [RCV001035070]|Cardiovascular phenotype [RCV000621936]|Holt-Oram syndrome [RCV000332226] Chr12:114403831 [GRCh38]
Chr12:114841636 [GRCh37]
Chr12:12q24.21
likely benign|uncertain significance
NM_000192.3(TBX5):c.*1188T>C single nucleotide variant Holt-Oram syndrome [RCV000332304] Chr12:114354344 [GRCh38]
Chr12:114792149 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.*480G>A single nucleotide variant Holt-Oram syndrome [RCV000354860] Chr12:114355052 [GRCh38]
Chr12:114792857 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.*1196T>C single nucleotide variant Holt-Oram syndrome [RCV000277231] Chr12:114354336 [GRCh38]
Chr12:114792141 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*601G>A single nucleotide variant Holt-Oram syndrome [RCV000312696] Chr12:114354931 [GRCh38]
Chr12:114792736 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.*1446T>G single nucleotide variant Holt-Oram syndrome [RCV000358353] Chr12:114354086 [GRCh38]
Chr12:114791891 [GRCh37]
Chr12:12q24.21
likely benign|uncertain significance
NM_000192.3(TBX5):c.318T>C (p.Ile106=) single nucleotide variant Holt-Oram syndrome [RCV000359278] Chr12:114399557 [GRCh38]
Chr12:114837362 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.791G>A (p.Arg264Lys) single nucleotide variant Holt-Oram syndrome [RCV000407548]|not provided [RCV000867185] Chr12:114366356 [GRCh38]
Chr12:114804161 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.828C>T (p.Ser276=) single nucleotide variant not provided [RCV000265779] Chr12:114366319 [GRCh38]
Chr12:114804124 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*960A>G single nucleotide variant Holt-Oram syndrome [RCV000319160] Chr12:114354572 [GRCh38]
Chr12:114792377 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.57A>G (p.Ala19=) single nucleotide variant Holt-Oram syndrome [RCV000389159] Chr12:114403842 [GRCh38]
Chr12:114841647 [GRCh37]
Chr12:12q24.21
likely benign|uncertain significance
NM_000192.3(TBX5):c.105del (p.Ser36fs) deletion Holt-Oram syndrome [RCV000408637] Chr12:114403794 [GRCh38]
Chr12:114841599 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.77C>T (p.Ser26Leu) single nucleotide variant not provided [RCV000489172] Chr12:114403822 [GRCh38]
Chr12:114841627 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.363-82G>A single nucleotide variant not provided [RCV001547726] Chr12:114398802 [GRCh38]
Chr12:114836607 [GRCh37]
Chr12:12q24.21
likely benign
NM_000192.3(TBX5):c.*795G>T single nucleotide variant Holt-Oram syndrome [RCV000291279] Chr12:114354737 [GRCh38]
Chr12:114792542 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*856T>A single nucleotide variant Holt-Oram syndrome [RCV000380085] Chr12:114354676 [GRCh38]
Chr12:114792481 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*806C>G single nucleotide variant Holt-Oram syndrome [RCV000399741] Chr12:114354726 [GRCh38]
Chr12:114792531 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*755_*759delinsGAATAAGATGCTGGGCTCTTATTCAGCTGG indel Holt-Oram syndrome [RCV000346259] Chr12:114354773..114354777 [GRCh38]
Chr12:114792578..114792582 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.174C>T (p.Leu58=) single nucleotide variant Holt-Oram syndrome [RCV000381544] Chr12:114401894 [GRCh38]
Chr12:114839699 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.-347C>G single nucleotide variant Holt-Oram syndrome [RCV000400827] Chr12:114408122 [GRCh38]
Chr12:114845927 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*875A>C single nucleotide variant Holt-Oram syndrome [RCV000316111] Chr12:114354657 [GRCh38]
Chr12:114792462 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.-637G>A single nucleotide variant Holt-Oram syndrome [RCV000364733] Chr12:114408412 [GRCh38]
Chr12:114846217 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.13G>A (p.Asp5Asn) single nucleotide variant Holt-Oram syndrome [RCV000349562] Chr12:114403886 [GRCh38]
Chr12:114841691 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*718G>A single nucleotide variant Holt-Oram syndrome [RCV000306939] Chr12:114354814 [GRCh38]
Chr12:114792619 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*1111T>C single nucleotide variant Holt-Oram syndrome [RCV000368337] Chr12:114354421 [GRCh38]
Chr12:114792226 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*852C>T single nucleotide variant Holt-Oram syndrome [RCV000285667] Chr12:114354680 [GRCh38]
Chr12:114792485 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.846C>T (p.Ser282=) single nucleotide variant Holt-Oram syndrome [RCV000338670] Chr12:114366301 [GRCh38]
Chr12:114804106 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*926T>C single nucleotide variant Holt-Oram syndrome [RCV000373795] Chr12:114354606 [GRCh38]
Chr12:114792411 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*1511G>A single nucleotide variant Holt-Oram syndrome [RCV000392542] Chr12:114354021 [GRCh38]
Chr12:114791826 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.629_632dup (p.Ile212fs) duplication Aortic valve disease 2 [RCV000531546] Chr12:114394771..114394772 [GRCh38]
Chr12:114832576..114832577 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.1199C>T (p.Thr400Met) single nucleotide variant Aortic valve disease 2 [RCV001041529]|Cardiovascular phenotype [RCV000621173] Chr12:114355890 [GRCh38]
Chr12:114793695 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.*277C>T single nucleotide variant Holt-Oram syndrome [RCV000379308] Chr12:114355255 [GRCh38]
Chr12:114793060 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.1158dup (p.Ser387fs) duplication Holt-Oram syndrome [RCV000578349] Chr12:114355930..114355931 [GRCh38]
Chr12:114793735..114793736 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.473_476del (p.Leu158fs) deletion not provided [RCV000598798] Chr12:114398607..114398610 [GRCh38]
Chr12:114836412..114836415 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.1234G>A (p.Val412Ile) single nucleotide variant Aortic valve disease 2 [RCV001085662]|Cardiovascular phenotype [RCV000619805]|not provided [RCV000588683]|not specified [RCV000615903] Chr12:114355855 [GRCh38]
Chr12:114793660 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.192G>T (p.Trp64Cys) single nucleotide variant not provided [RCV000585449] Chr12:114401876 [GRCh38]
Chr12:114839681 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.188del (p.Leu63fs) deletion not provided [RCV000599389] Chr12:114401880 [GRCh38]
Chr12:114839685 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.827G>A (p.Ser276Asn) single nucleotide variant Aortic valve disease 2 [RCV001088275]|Cardiovascular phenotype [RCV000619065]|not provided [RCV000589261] Chr12:114366320 [GRCh38]
Chr12:114804125 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_080717.3(TBX5):c.835_837delinsAG (p.Glu279fs) indel Congenital heart disease (variable) [RCV000587686] Chr12:114356102..114356104 [GRCh38]
Chr12:114793907..114793909 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.579A>G (p.Gly193=) single nucleotide variant Aortic valve disease 2 [RCV000552846] Chr12:114394825 [GRCh38]
Chr12:114832630 [GRCh37]
Chr12:12q24.21
likely benign
NC_000012.11:g.114795705_114844082dup duplication Holt-Oram syndrome [RCV000415566] Chr12:12q24.21 pathogenic|uncertain significance
NM_000192.3(TBX5):c.404T>G (p.Leu135Arg) single nucleotide variant Atrioventricular septal defect [RCV000416326] Chr12:114398679 [GRCh38]
Chr12:114836484 [GRCh37]
Chr12:12q24.21
pathogenic|likely pathogenic
NM_000192.3(TBX5):c.756-1G>C single nucleotide variant not provided [RCV000729243] Chr12:114366392 [GRCh38]
Chr12:114804197 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.670C>T (p.Gln224Ter) single nucleotide variant not provided [RCV000413700] Chr12:114385561 [GRCh38]
Chr12:114823366 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.710G>C (p.Arg237Pro) single nucleotide variant not provided [RCV000413877] Chr12:114385521 [GRCh38]
Chr12:114823326 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.202del (p.His68fs) deletion not provided [RCV000413997] Chr12:114401866 [GRCh38]
Chr12:114839671 [GRCh37]
Chr12:12q24.21
pathogenic
GRCh37/hg19 12q24.13-24.21(chr12:112963559-116095198)x1 copy number loss See cases [RCV000446400] Chr12:112963559..116095198 [GRCh37]
Chr12:12q24.13-24.21
pathogenic
NM_000192.3(TBX5):c.456del (p.Val153fs) deletion Aortic valve disease 2 [RCV000460311]|not provided [RCV000443799] Chr12:114398627 [GRCh38]
Chr12:114836432 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.40C>A (p.Pro14Thr) single nucleotide variant not provided [RCV000515608] Chr12:114403859 [GRCh38]
Chr12:114841664 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.1545C>T (p.Ser515=) single nucleotide variant Aortic valve disease 2 [RCV000463048] Chr12:114355544 [GRCh38]
Chr12:114793349 [GRCh37]
Chr12:12q24.21
benign
NM_000192.3(TBX5):c.278dup (p.Leu94fs) duplication Aortic valve disease 2 [RCV000466953] Chr12:114399596..114399597 [GRCh38]
Chr12:114837401..114837402 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.1162G>A (p.Glu388Lys) single nucleotide variant Aortic valve disease 2 [RCV000457110] Chr12:114355927 [GRCh38]
Chr12:114793732 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.1158del (p.Ser387fs) deletion not provided [RCV000478592] Chr12:114355931 [GRCh38]
Chr12:114793736 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.1078C>T (p.Gln360Ter) single nucleotide variant not provided [RCV000478764] Chr12:114356011 [GRCh38]
Chr12:114793816 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.178G>T (p.Glu60Ter) single nucleotide variant not provided [RCV000486016] Chr12:114401890 [GRCh38]
Chr12:114839695 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.1084C>G (p.Gln362Glu) single nucleotide variant Aortic valve disease 2 [RCV000473046] Chr12:114356005 [GRCh38]
Chr12:114793810 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.443G>A (p.Trp148Ter) single nucleotide variant Aortic valve disease 2 [RCV000466209] Chr12:114398640 [GRCh38]
Chr12:114836445 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.755G>T (p.Ser252Ile) single nucleotide variant Aortic valve disease 2 [RCV000466448] Chr12:114385476 [GRCh38]
Chr12:114823281 [GRCh37]
Chr12:12q24.21
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000192.3(TBX5):c.676A>G (p.Lys226Glu) single nucleotide variant not provided [RCV000493745] Chr12:114385555 [GRCh38]
Chr12:114823360 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.444G>A (p.Trp148Ter) single nucleotide variant Atrial septal defect 1 [RCV000508630]|Holt-Oram syndrome [RCV000782309] Chr12:114398639 [GRCh38]
Chr12:114836444 [GRCh37]
Chr12:12q24.21
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000192.3(TBX5):c.250T>C (p.Phe84Leu) single nucleotide variant not provided [RCV000493054] Chr12:114399625 [GRCh38]
Chr12:114837430 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.587C>G (p.Ser196Ter) single nucleotide variant not provided [RCV000578576] Chr12:114394817 [GRCh38]
Chr12:114832622 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.834T>C (p.Ser278=) single nucleotide variant Cardiovascular phenotype [RCV000617564] Chr12:114366313 [GRCh38]
Chr12:114804118 [GRCh37]
Chr12:12q24.21
likely benign
NM_000192.3(TBX5):c.804C>G (p.Ala268=) single nucleotide variant Aortic valve disease 2 [RCV001520675]|Cardiovascular phenotype [RCV000618351]|Holt-Oram syndrome [RCV001114224]|not provided [RCV000862030]|not specified [RCV000733933] Chr12:114366343 [GRCh38]
Chr12:114804148 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_000192.3(TBX5):c.510+5G>A single nucleotide variant Aortic valve disease 2 [RCV000685360]|Cardiovascular phenotype [RCV000618557]|Holt-Oram syndrome [RCV000763794] Chr12:114398568 [GRCh38]
Chr12:114836373 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.848C>A (p.Thr283Asn) single nucleotide variant Aortic valve disease 2 [RCV001226522]|Cardiovascular phenotype [RCV000619481]|not provided [RCV000595942] Chr12:114366299 [GRCh38]
Chr12:114804104 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.1221C>G (p.Tyr407Ter) single nucleotide variant Secundum atrial septal defect [RCV000590978] Chr12:114355868 [GRCh38]
Chr12:114793673 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.729G>T (p.Glu243Asp) single nucleotide variant Aortic valve disease 2 [RCV001071468]|Cardiovascular phenotype [RCV000620918]|Holt-Oram syndrome [RCV001110183] Chr12:114385502 [GRCh38]
Chr12:114823307 [GRCh37]
Chr12:12q24.21
benign|likely benign|uncertain significance
NM_000192.3(TBX5):c.368T>C (p.Val123Ala) single nucleotide variant Cardiovascular phenotype [RCV000621586] Chr12:114398715 [GRCh38]
Chr12:114836520 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.38C>A (p.Thr13Lys) single nucleotide variant Cardiovascular phenotype [RCV000617189] Chr12:114403861 [GRCh38]
Chr12:114841666 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.1296G>A (p.Ser432=) single nucleotide variant Cardiovascular phenotype [RCV000617919] Chr12:114355793 [GRCh38]
Chr12:114793598 [GRCh37]
Chr12:12q24.21
likely benign
NM_000192.3(TBX5):c.618T>G (p.Phe206Leu) single nucleotide variant Wolff-Parkinson-White pattern [RCV000656176] Chr12:114394786 [GRCh38]
Chr12:114832591 [GRCh37]
Chr12:12q24.21
uncertain significance
NC_000012.11:g.(?_114793317)_(114841723_?)del deletion Aortic valve disease 2 [RCV000538860] Chr12:114793317..114841723 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.557T>G (p.Val186Gly) single nucleotide variant Aortic valve disease 2 [RCV000654909] Chr12:114394847 [GRCh38]
Chr12:114832652 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.432dup (p.Gly145fs) duplication Aortic valve disease 2 [RCV000654910] Chr12:114398650..114398651 [GRCh38]
Chr12:114836455..114836456 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.595dup (p.Thr199fs) duplication Aortic valve disease 2 [RCV000654911] Chr12:114394808..114394809 [GRCh38]
Chr12:114832613..114832614 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.804C>T (p.Ala268=) single nucleotide variant Cardiovascular phenotype [RCV000621671] Chr12:114366343 [GRCh38]
Chr12:114804148 [GRCh37]
Chr12:12q24.21
likely benign
NM_080717.3(TBX5):c.835_837delinsAC (p.Glu279fs) indel Congenital heart disease (variable) [RCV000590641] Chr12:114356102..114356104 [GRCh38]
Chr12:114793907..114793909 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.54C>A (p.Asp18Glu) single nucleotide variant Aortic valve disease 2 [RCV000690141]|Holt-Oram syndrome [RCV001112941] Chr12:114403845 [GRCh38]
Chr12:114841650 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.868C>T (p.Gln290Ter) single nucleotide variant Aortic valve disease 2 [RCV000690734]|Holt-Oram syndrome [RCV000782303] Chr12:114366279 [GRCh38]
Chr12:114804084 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.1208G>A (p.Ser403Asn) single nucleotide variant Aortic valve disease 2 [RCV000707634] Chr12:114355881 [GRCh38]
Chr12:114793686 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.363-2A>G single nucleotide variant Aortic valve disease 2 [RCV000697914] Chr12:114398722 [GRCh38]
Chr12:114836527 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.1242C>A (p.Thr414=) single nucleotide variant Aortic valve disease 2 [RCV000701756] Chr12:114355847 [GRCh38]
Chr12:114793652 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.1104C>G (p.Tyr368Ter) single nucleotide variant Aortic valve disease 2 [RCV000687827] Chr12:114355985 [GRCh38]
Chr12:114793790 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.1289T>C (p.Phe430Ser) single nucleotide variant Aortic valve disease 2 [RCV000685247] Chr12:114355800 [GRCh38]
Chr12:114793605 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.390del (p.Met131fs) deletion Aortic valve disease 2 [RCV000700317] Chr12:114398693 [GRCh38]
Chr12:114836498 [GRCh37]
Chr12:12q24.21
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000192.3(TBX5):c.246_249del (p.Met83fs) deletion Holt-Oram syndrome [RCV000760294] Chr12:114399626..114399629 [GRCh38]
Chr12:114837431..114837434 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.408C>G (p.Tyr136Ter) single nucleotide variant not provided [RCV000760745] Chr12:114398675 [GRCh38]
Chr12:114836480 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.362+233C>T single nucleotide variant not provided [RCV001565330] Chr12:114399280 [GRCh38]
Chr12:114837085 [GRCh37]
Chr12:12q24.21
likely benign
NM_000192.3(TBX5):c.712G>A (p.Gly238Ser) single nucleotide variant not provided [RCV000788576] Chr12:114385519 [GRCh38]
Chr12:114823324 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.*836A>C single nucleotide variant Holt-Oram syndrome [RCV001114140] Chr12:114354696 [GRCh38]
Chr12:114792501 [GRCh37]
Chr12:12q24.21
likely benign
NM_000192.3(TBX5):c.-153T>G single nucleotide variant Holt-Oram syndrome [RCV001114296] Chr12:114407928 [GRCh38]
Chr12:114845733 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.-377C>T single nucleotide variant Holt-Oram syndrome [RCV001114298] Chr12:114408152 [GRCh38]
Chr12:114845957 [GRCh37]
Chr12:12q24.21
benign
NM_181486.4(TBX5):c.147+8_147+10del deletion Aortic valve disease 2 [RCV001470672]|not provided [RCV000942649] Chr12:114403742..114403744 [GRCh38]
Chr12:114841547..114841549 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.243-7C>G single nucleotide variant not provided [RCV000896400] Chr12:114399639 [GRCh38]
Chr12:114837444 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.600G>T (p.Ala200=) single nucleotide variant not provided [RCV000951752] Chr12:114394804 [GRCh38]
Chr12:114832609 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.983-10G>C single nucleotide variant not provided [RCV000915396] Chr12:114356116 [GRCh38]
Chr12:114793921 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.1476C>T (p.Gly492=) single nucleotide variant not provided [RCV000863302] Chr12:114355613 [GRCh38]
Chr12:114793418 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.1242C>T (p.Thr414=) single nucleotide variant Aortic valve disease 2 [RCV001425111]|not provided [RCV000867426] Chr12:114355847 [GRCh38]
Chr12:114793652 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.639A>G (p.Ala213=) single nucleotide variant Aortic valve disease 2 [RCV000868444] Chr12:114394765 [GRCh38]
Chr12:114832570 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.363-6A>G single nucleotide variant Holt-Oram syndrome [RCV001110942]|not provided [RCV000870581] Chr12:114398726 [GRCh38]
Chr12:114836531 [GRCh37]
Chr12:12q24.21
benign|likely benign
NM_181486.4(TBX5):c.141C>T (p.Thr47=) single nucleotide variant not provided [RCV000884049] Chr12:114403758 [GRCh38]
Chr12:114841563 [GRCh37]
Chr12:12q24.21
benign
NM_181486.4(TBX5):c.327C>T (p.Ala109=) single nucleotide variant not provided [RCV000877737] Chr12:114399548 [GRCh38]
Chr12:114837353 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.1380C>T (p.Ser460=) single nucleotide variant Aortic valve disease 2 [RCV001449214]|not provided [RCV000890818] Chr12:114355709 [GRCh38]
Chr12:114793514 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.658_660del (p.His220del) deletion Aortic valve disease 2 [RCV001062251] Chr12:114394744..114394746 [GRCh38]
Chr12:114832549..114832551 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_181486.4(TBX5):c.698C>T (p.Ala233Val) single nucleotide variant Aortic valve disease 2 [RCV001041344] Chr12:114385533 [GRCh38]
Chr12:114823338 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.727del (p.Glu243fs) deletion Aortic valve disease 2 [RCV001049864] Chr12:114385504 [GRCh38]
Chr12:114823309 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.105dup (p.Ser36fs) duplication Holt-Oram syndrome [RCV001089629] Chr12:114403793..114403794 [GRCh38]
Chr12:114841598..114841599 [GRCh37]
Chr12:12q24.21
pathogenic
GRCh37/hg19 12q24.21(chr12:114791609-114793234) copy number loss Holt-Oram syndrome [RCV000767748] Chr12:114791609..114793234 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.243-1G>A single nucleotide variant Aortic valve disease 2 [RCV001060636] Chr12:114399633 [GRCh38]
Chr12:114837438 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_181486.4(TBX5):c.484A>G (p.Asn162Asp) single nucleotide variant Aortic valve disease 2 [RCV001060992] Chr12:114398599 [GRCh38]
Chr12:114836404 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.879T>A (p.Cys293Ter) single nucleotide variant Holt-Oram syndrome [RCV000782296] Chr12:114366268 [GRCh38]
Chr12:114804073 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.755+2T>C single nucleotide variant Holt-Oram syndrome [RCV000782298] Chr12:114385474 [GRCh38]
Chr12:114823279 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.728_729del (p.Glu243fs) deletion Holt-Oram syndrome [RCV000782311] Chr12:114385502..114385503 [GRCh38]
Chr12:114823307..114823308 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3:c.(?_-667)_(755+1_756-1)dup duplication Holt-Oram syndrome [RCV000782313] Chr12:12q24.21 pathogenic
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)del deletion Holt-Oram syndrome [RCV000782315] Chr12:12q24.21 pathogenic
NM_000192.3(TBX5):c.694T>G (p.Phe232Val) single nucleotide variant Holt-Oram syndrome [RCV000782318] Chr12:114385537 [GRCh38]
Chr12:114823342 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3:c.(?_-667)_(*1602_?)del deletion Holt-Oram syndrome [RCV000782322] Chr12:12q24.21 pathogenic
NM_000192.3:c.(362+1_363-1)_(510+1_511-1)del deletion Holt-Oram syndrome [RCV000782332] Chr12:12q24.21 pathogenic
NM_000192.3(TBX5):c.933C>G (p.Tyr311Ter) single nucleotide variant Holt-Oram syndrome [RCV000782341] Chr12:114366214 [GRCh38]
Chr12:114804019 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.1074del (p.Pro359fs) deletion Holt-Oram syndrome [RCV000782345] Chr12:114356015 [GRCh38]
Chr12:114793820 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.674T>G (p.Leu225Ter) single nucleotide variant Holt-Oram syndrome [RCV000782346] Chr12:114385557 [GRCh38]
Chr12:114823362 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.1443C>T (p.Thr481=) single nucleotide variant Aortic valve disease 2 [RCV001393040]|not provided [RCV000867690] Chr12:114355646 [GRCh38]
Chr12:114793451 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.669G>A (p.Thr223=) single nucleotide variant not provided [RCV000870069] Chr12:114385562 [GRCh38]
Chr12:114823367 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.1230C>T (p.Cys410=) single nucleotide variant not provided [RCV000889849] Chr12:114355859 [GRCh38]
Chr12:114793664 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.696T>C (p.Phe232=) single nucleotide variant not provided [RCV000930825] Chr12:114385535 [GRCh38]
Chr12:114823340 [GRCh37]
Chr12:12q24.21
likely benign
NM_000192.3(TBX5):c.163_172del (p.Lys55fs) deletion Aortic valve disease 2 [RCV000813382] Chr12:114401896..114401905 [GRCh38]
Chr12:114839701..114839710 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.510+1G>T single nucleotide variant Holt-Oram syndrome [RCV000782291] Chr12:114398572 [GRCh38]
Chr12:114836377 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.242+5G>A single nucleotide variant Holt-Oram syndrome [RCV000782292] Chr12:114401821 [GRCh38]
Chr12:114839626 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.1346del (p.Gln449fs) deletion Holt-Oram syndrome [RCV000782310] Chr12:114355743 [GRCh38]
Chr12:114793548 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3:c.67_81delins indel Holt-Oram syndrome [RCV000782321] Chr12:12q24.21 pathogenic
NM_000192.3(TBX5):c.426del (p.Ala143fs) deletion Holt-Oram syndrome [RCV000782323] Chr12:114398657 [GRCh38]
Chr12:114836462 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.457dup (p.Val153fs) duplication Holt-Oram syndrome [RCV000782326] Chr12:114398625..114398626 [GRCh38]
Chr12:114836430..114836431 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.559_572dup (p.Asn191fs) duplication Holt-Oram syndrome [RCV000782329] Chr12:114394831..114394832 [GRCh38]
Chr12:114832636..114832637 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.520A>G (p.Asn174Asp) single nucleotide variant Holt-Oram syndrome [RCV000782343] Chr12:114394884 [GRCh38]
Chr12:114832689 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.902C>G (p.Ser301Cys) single nucleotide variant Aortic valve disease 2 [RCV000805691] Chr12:114366245 [GRCh38]
Chr12:114804050 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.926_927del (p.Asn309fs) deletion Aortic valve disease 2 [RCV000816157] Chr12:114366220..114366221 [GRCh38]
Chr12:114804025..114804026 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.362+2T>C single nucleotide variant Aortic valve disease 2 [RCV000823855] Chr12:114399511 [GRCh38]
Chr12:114837316 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.635_636del (p.Ile212fs) microsatellite Holt-Oram syndrome [RCV000782312] Chr12:114394768..114394769 [GRCh38]
Chr12:114832573..114832574 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.148-2A>G single nucleotide variant Holt-Oram syndrome [RCV000782338] Chr12:114401922 [GRCh38]
Chr12:114839727 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.593dup (p.Asn198fs) duplication Aortic valve disease 2 [RCV001056565]|Holt-Oram syndrome [RCV000782297] Chr12:114394810..114394811 [GRCh38]
Chr12:114832615..114832616 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.342C>A (p.Tyr114Ter) single nucleotide variant Holt-Oram syndrome [RCV000782301] Chr12:114399533 [GRCh38]
Chr12:114837338 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.253C>T (p.Pro85Ser) single nucleotide variant Holt-Oram syndrome [RCV000782306] Chr12:114399622 [GRCh38]
Chr12:114837427 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.500del (p.Pro167fs) deletion Holt-Oram syndrome [RCV000782307] Chr12:114398583 [GRCh38]
Chr12:114836388 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.677A>G (p.Lys226Arg) single nucleotide variant Holt-Oram syndrome [RCV000782325] Chr12:114385554 [GRCh38]
Chr12:114823359 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.119C>A (p.Ser40Ter) single nucleotide variant Holt-Oram syndrome [RCV000782330] Chr12:114403780 [GRCh38]
Chr12:114841585 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3:c.946C>T single nucleotide variant Holt-Oram syndrome [RCV000782335] Chr12:12q24.21 pathogenic
NM_000192.3(TBX5):c.253C>A (p.Pro85Thr) single nucleotide variant Thumb deformity (disease) [RCV000824680] Chr12:114399622 [GRCh38]
Chr12:114837427 [GRCh37]
Chr12:12q24.21
likely pathogenic
NC_000012.12:g.(?_114401806)_(114401940_?)del deletion Aortic valve disease 2 [RCV000807934] Chr12:114401806..114401940 [GRCh38]
Chr12:114839611..114839745 [GRCh37]
Chr12:12q24.21
pathogenic
NC_000012.12:g.(?_114394721)_(114394913_?)del deletion Aortic valve disease 2 [RCV001031964] Chr12:114832526..114832718 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3:c.(982+1_983-1)_(*1602_?)del deletion Holt-Oram syndrome [RCV000782290] Chr12:12q24.21 pathogenic
NM_000192.3:c.(362+1_363-1)_(*1602_?)del deletion Holt-Oram syndrome [RCV000782295] Chr12:12q24.21 pathogenic
NM_000192.3(TBX5):c.713dup (p.Ser239fs) duplication Holt-Oram syndrome [RCV000782299] Chr12:114385517..114385518 [GRCh38]
Chr12:114823322..114823323 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.1084C>T (p.Gln362Ter) single nucleotide variant Holt-Oram syndrome [RCV000782302] Chr12:114356005 [GRCh38]
Chr12:114793810 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3:c.(?_-38)_(242+1_243-1)dup duplication Holt-Oram syndrome [RCV000782305] Chr12:12q24.21 pathogenic
NM_000192.3(TBX5):c.845C>T (p.Ser282Phe) single nucleotide variant Holt-Oram syndrome [RCV000782316] Chr12:114366302 [GRCh38]
Chr12:114804107 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.680_683del (p.Ile227fs) deletion Holt-Oram syndrome [RCV000782317] Chr12:114385548..114385551 [GRCh38]
Chr12:114823353..114823356 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3:c.1033_1034dupGA duplication Holt-Oram syndrome [RCV000782319] Chr12:12q24.21 pathogenic
NM_000192.3(TBX5):c.496del (p.Asp166fs) deletion Holt-Oram syndrome [RCV000782320] Chr12:114398587 [GRCh38]
Chr12:114836392 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.261C>A (p.Tyr87Ter) single nucleotide variant Holt-Oram syndrome [RCV000782348] Chr12:114399614 [GRCh38]
Chr12:114837419 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3:c.(510+1_511-1)_(663+1_664-1)del deletion Holt-Oram syndrome [RCV000782349] Chr12:12q24.21 pathogenic
NM_000192.3(TBX5):c.1303del (p.Leu435fs) deletion Holt-Oram syndrome [RCV000782294] Chr12:114355786 [GRCh38]
Chr12:114793591 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.1045G>T (p.Glu349Ter) single nucleotide variant Holt-Oram syndrome [RCV000782300] Chr12:114356044 [GRCh38]
Chr12:114793849 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.664-2A>G single nucleotide variant Holt-Oram syndrome [RCV000782324] Chr12:114385569 [GRCh38]
Chr12:114823374 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.703G>T (p.Gly235Ter) single nucleotide variant Holt-Oram syndrome [RCV000782327] Chr12:114385528 [GRCh38]
Chr12:114823333 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.510+5G>C single nucleotide variant Holt-Oram syndrome [RCV000782336] Chr12:114398568 [GRCh38]
Chr12:114836373 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_000192.3(TBX5):c.978del (p.Glu328fs) deletion Holt-Oram syndrome [RCV000782340] Chr12:114366169 [GRCh38]
Chr12:114803974 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.254C>T (p.Pro85Leu) single nucleotide variant Holt-Oram syndrome [RCV000782342] Chr12:114399621 [GRCh38]
Chr12:114837426 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.73_74insT (p.Asp25fs) insertion Holt-Oram syndrome [RCV000782344] Chr12:114403825..114403826 [GRCh38]
Chr12:114841630..114841631 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.943C>T (p.Gln315Ter) single nucleotide variant Holt-Oram syndrome [RCV000782347] Chr12:114366204 [GRCh38]
Chr12:114804009 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.-107T>C single nucleotide variant Holt-Oram syndrome [RCV001114294] Chr12:114407882 [GRCh38]
Chr12:114845687 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.950A>G (p.His317Arg) single nucleotide variant Aortic valve disease 2 [RCV001043212] Chr12:114366197 [GRCh38]
Chr12:114804002 [GRCh37]
Chr12:12q24.21
uncertain significance
NC_000012.12:g.(?_114401816)_(114401930_?)del deletion Aortic valve disease 2 [RCV000818558] Chr12:114401816..114401930 [GRCh38]
Chr12:114839621..114839735 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.1269C>G (p.Tyr423Ter) single nucleotide variant Holt-Oram syndrome [RCV000782293] Chr12:114355820 [GRCh38]
Chr12:114793625 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.537C>A (p.Tyr179Ter) single nucleotide variant Holt-Oram syndrome [RCV000782304] Chr12:114394867 [GRCh38]
Chr12:114832672 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)dup duplication Holt-Oram syndrome [RCV000782308] Chr12:12q24.21 pathogenic
NM_000192.3(TBX5):c.1203G>A (p.Trp401Ter) single nucleotide variant Holt-Oram syndrome [RCV000782314] Chr12:114355886 [GRCh38]
Chr12:114793691 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.295A>T (p.Lys99Ter) single nucleotide variant Holt-Oram syndrome [RCV000782328] Chr12:114399580 [GRCh38]
Chr12:114837385 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.924del (p.Asn309fs) deletion Holt-Oram syndrome [RCV000782333] Chr12:114366223 [GRCh38]
Chr12:114804028 [GRCh37]
Chr12:12q24.21
pathogenic
NM_000192.3(TBX5):c.336del (p.His112fs) deletion Holt-Oram syndrome [RCV000782339] Chr12:114399539 [GRCh38]
Chr12:114837344 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.1135A>T (p.Met379Leu) single nucleotide variant Holt-Oram syndrome [RCV001114220] Chr12:114355954 [GRCh38]
Chr12:114793759 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.1116G>A (p.Ser372=) single nucleotide variant Holt-Oram syndrome [RCV001114221] Chr12:114355973 [GRCh38]
Chr12:114793778 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.246del (p.Met83fs) deletion Aortic valve disease 2 [RCV001068835] Chr12:114399629 [GRCh38]
Chr12:114837434 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.538del (p.Gln180fs) deletion Holt-Oram syndrome [RCV000988919] Chr12:114394866 [GRCh38]
Chr12:114832671 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.1115_1116dup (p.Ala373fs) duplication not provided [RCV001008261] Chr12:114355972..114355973 [GRCh38]
Chr12:114793777..114793778 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter) single nucleotide variant Holt-Oram syndrome [RCV001193147]|not provided [RCV001268738] Chr12:114401876 [GRCh38]
Chr12:114839681 [GRCh37]
Chr12:12q24.21
pathogenic|likely pathogenic
NM_181486.4(TBX5):c.593del (p.Asn198fs) deletion Aortic valve disease 2 [RCV001214359] Chr12:114394811 [GRCh38]
Chr12:114832616 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.756-2A>G single nucleotide variant Aortic valve disease 2 [RCV001229255]|Holt-Oram syndrome [RCV001270727] Chr12:114366393 [GRCh38]
Chr12:114804198 [GRCh37]
Chr12:12q24.21
pathogenic|likely pathogenic
NM_181486.4(TBX5):c.*1344G>A single nucleotide variant Holt-Oram syndrome [RCV001110798] Chr12:114354188 [GRCh38]
Chr12:114791993 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.-132G>A single nucleotide variant Holt-Oram syndrome [RCV001114295] Chr12:114407907 [GRCh38]
Chr12:114845712 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.664-11C>T single nucleotide variant Holt-Oram syndrome [RCV001110184] Chr12:114385578 [GRCh38]
Chr12:114823383 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.372G>C (p.Thr124=) single nucleotide variant Holt-Oram syndrome [RCV001110187] Chr12:114398711 [GRCh38]
Chr12:114836516 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.-503C>T single nucleotide variant Holt-Oram syndrome [RCV001110283] Chr12:114408278 [GRCh38]
Chr12:114846083 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.664-274del deletion not provided [RCV001545263] Chr12:114385841 [GRCh38]
Chr12:114823646 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.362+97_362+98del deletion not provided [RCV001576350] Chr12:114399415..114399416 [GRCh38]
Chr12:114837220..114837221 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.-38-211T>C single nucleotide variant not provided [RCV001576613] Chr12:114404147 [GRCh38]
Chr12:114841952 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.362+84_362+86dup duplication not provided [RCV001567772] Chr12:114399414..114399415 [GRCh38]
Chr12:114837219..114837220 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.147+9A>T single nucleotide variant Aortic valve disease 2 [RCV000877562] Chr12:114403743 [GRCh38]
Chr12:114841548 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.242+9G>T single nucleotide variant Aortic valve disease 2 [RCV001407330]|not provided [RCV000966562] Chr12:114401817 [GRCh38]
Chr12:114839622 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.*717C>T single nucleotide variant Holt-Oram syndrome [RCV001114141] Chr12:114354815 [GRCh38]
Chr12:114792620 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.238_239delinsT (p.Ala79_Gly80insTer) indel Aortic valve disease 2 [RCV001239166] Chr12:114401829..114401830 [GRCh38]
Chr12:114839634..114839635 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.1449G>A (p.Gln483=) single nucleotide variant Holt-Oram syndrome [RCV001112862] Chr12:114355640 [GRCh38]
Chr12:114793445 [GRCh37]
Chr12:12q24.21
benign
NM_000192.3(TBX5):c.-42G>A single nucleotide variant Holt-Oram syndrome [RCV001112943] Chr12:114407817 [GRCh38]
Chr12:114845622 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.1477G>A (p.Val493Met) single nucleotide variant not provided [RCV000994993] Chr12:114355612 [GRCh38]
Chr12:114793417 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.-38-237G>T single nucleotide variant not provided [RCV001559944] Chr12:114404173 [GRCh38]
Chr12:114841978 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.242+1G>A single nucleotide variant not provided [RCV001555481] Chr12:114401825 [GRCh38]
Chr12:114839630 [GRCh37]
Chr12:12q24.21
pathogenic
GRCh37/hg19 12q24.21(chr12:114756557-114871208)x1 copy number loss not provided [RCV001006531] Chr12:114756557..114871208 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.*1548C>T single nucleotide variant Holt-Oram syndrome [RCV001110019] Chr12:114353984 [GRCh38]
Chr12:114791789 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.1362G>A (p.Met454Ile) single nucleotide variant Holt-Oram syndrome [RCV001112863] Chr12:114355727 [GRCh38]
Chr12:114793532 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.1233C>G (p.Thr411=) single nucleotide variant Holt-Oram syndrome [RCV001112864] Chr12:114355856 [GRCh38]
Chr12:114793661 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.239G>A (p.Gly80Glu) single nucleotide variant Aortic valve disease 2 [RCV001067927] Chr12:114401829 [GRCh38]
Chr12:114839634 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.*439T>A single nucleotide variant Holt-Oram syndrome [RCV001110102] Chr12:114355093 [GRCh38]
Chr12:114792898 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.769G>A (p.Val257Met) single nucleotide variant Holt-Oram syndrome [RCV001110182] Chr12:114366378 [GRCh38]
Chr12:114804183 [GRCh37]
Chr12:12q24.21
benign
NM_181486.4(TBX5):c.585C>T (p.Gly195=) single nucleotide variant Holt-Oram syndrome [RCV001110185] Chr12:114394819 [GRCh38]
Chr12:114832624 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.456C>T (p.Leu152=) single nucleotide variant Holt-Oram syndrome [RCV001110186] Chr12:114398627 [GRCh38]
Chr12:114836432 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.-403G>C single nucleotide variant Holt-Oram syndrome [RCV001110281] Chr12:114408178 [GRCh38]
Chr12:114845983 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_000192.3(TBX5):c.-487G>A single nucleotide variant Holt-Oram syndrome [RCV001110282] Chr12:114408262 [GRCh38]
Chr12:114846067 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.*121A>G single nucleotide variant Holt-Oram syndrome [RCV001110870] Chr12:114355411 [GRCh38]
Chr12:114793216 [GRCh37]
Chr12:12q24.21
benign
NM_181486.4(TBX5):c.147+194G>A single nucleotide variant not provided [RCV001541473] Chr12:114403558 [GRCh38]
Chr12:114841363 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.154G>T (p.Glu52Ter) single nucleotide variant Aortic valve disease 2 [RCV001035895] Chr12:114401914 [GRCh38]
Chr12:114839719 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys) single nucleotide variant Holt-Oram syndrome [RCV001112942]|not provided [RCV001572787] Chr12:114403883 [GRCh38]
Chr12:114841688 [GRCh37]
Chr12:12q24.21
benign|uncertain significance
NM_181486.4(TBX5):c.*1071C>T single nucleotide variant Holt-Oram syndrome [RCV001112789] Chr12:114354461 [GRCh38]
Chr12:114792266 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln) single nucleotide variant Aortic valve disease 2 [RCV001039114] Chr12:114355965 [GRCh38]
Chr12:114793770 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.663+1G>A single nucleotide variant Aortic valve disease 2 [RCV001053399] Chr12:114394740 [GRCh38]
Chr12:114832545 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.1115_1116delinsAGGCGCTCCTACA (p.Ser372Ter) indel Aortic valve disease 2 [RCV001243434] Chr12:114355973..114355974 [GRCh38]
Chr12:114793778..114793779 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.922C>T (p.Pro308Ser) single nucleotide variant Holt-Oram syndrome [RCV001114223] Chr12:114366225 [GRCh38]
Chr12:114804030 [GRCh37]
Chr12:12q24.21
likely benign
NM_000192.3(TBX5):c.-167G>A single nucleotide variant Holt-Oram syndrome [RCV001114297] Chr12:114407942 [GRCh38]
Chr12:114845747 [GRCh37]
Chr12:12q24.21
benign
NM_181486.4(TBX5):c.564G>A (p.Ala188=) single nucleotide variant Aortic valve disease 2 [RCV001245949] Chr12:114394840 [GRCh38]
Chr12:114832645 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.813_814del (p.His271fs) microsatellite Aortic valve disease 2 [RCV001230100] Chr12:114366333..114366334 [GRCh38]
Chr12:114804138..114804139 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.69del (p.Cys24fs) deletion Aortic valve disease 2 [RCV001063573] Chr12:114403830 [GRCh38]
Chr12:114841635 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.704G>A (p.Gly235Glu) single nucleotide variant Holt-Oram syndrome [RCV001334303] Chr12:114385527 [GRCh38]
Chr12:114823332 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_181486.4(TBX5):c.905del (p.Gln302fs) deletion Holt-Oram syndrome [RCV001257575] Chr12:114366242 [GRCh38]
Chr12:114804047 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.1251C>T (p.Pro417=) single nucleotide variant not provided [RCV001257166] Chr12:114355838 [GRCh38]
Chr12:114793643 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.841C>G (p.Leu281Val) single nucleotide variant Aortic valve disease 2 [RCV001319259] Chr12:114366306 [GRCh38]
Chr12:114804111 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.1273C>A (p.His425Asn) single nucleotide variant Aortic valve disease 2 [RCV001326175] Chr12:114355816 [GRCh38]
Chr12:114793621 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.100G>T (p.Ala34Ser) single nucleotide variant Aortic valve disease 2 [RCV001301593] Chr12:114403799 [GRCh38]
Chr12:114841604 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.697G>C (p.Ala233Pro) single nucleotide variant not provided [RCV001311317] Chr12:114385534 [GRCh38]
Chr12:114823339 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_181486.4(TBX5):c.337A>T (p.Arg113Ter) single nucleotide variant Holt-Oram syndrome [RCV001332266] Chr12:114399538 [GRCh38]
Chr12:114837343 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.1081C>T (p.Gln361Ter) single nucleotide variant not provided [RCV001269574] Chr12:114356008 [GRCh38]
Chr12:114793813 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.362+1G>A single nucleotide variant Holt-Oram syndrome [RCV001334302] Chr12:114399512 [GRCh38]
Chr12:114837317 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.1165C>T (p.Pro389Ser) single nucleotide variant Aortic valve disease 2 [RCV001340425] Chr12:114355924 [GRCh38]
Chr12:114793729 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.1451C>A (p.Pro484His) single nucleotide variant Aortic valve disease 2 [RCV001360162] Chr12:114355638 [GRCh38]
Chr12:114793443 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.252T>A (p.Phe84Leu) single nucleotide variant Aortic valve disease 2 [RCV001372014] Chr12:114399623 [GRCh38]
Chr12:114837428 [GRCh37]
Chr12:12q24.21
uncertain significance
NM_181486.4(TBX5):c.243-2A>G single nucleotide variant Aortic valve disease 2 [RCV001384609] Chr12:114399634 [GRCh38]
Chr12:114837439 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.341dup (p.Tyr114Ter) duplication Aortic valve disease 2 [RCV001388526] Chr12:114399533..114399534 [GRCh38]
Chr12:114837338..114837339 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.982+320_982+321dup duplication not provided [RCV001539426] Chr12:114365829..114365830 [GRCh38]
Chr12:114803634..114803635 [GRCh37]
Chr12:12q24.21
benign
NC_000012.11:g.(?_114793327)_(114793921_?)del deletion Aortic valve disease 2 [RCV001390561] Chr12:114793327..114793921 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.511-1G>C single nucleotide variant Aortic valve disease 2 [RCV001379657] Chr12:114394894 [GRCh38]
Chr12:114832699 [GRCh37]
Chr12:12q24.21
likely pathogenic
NM_181486.4(TBX5):c.383_386dup (p.Met131fs) duplication Aortic valve disease 2 [RCV001384367] Chr12:114398696..114398697 [GRCh38]
Chr12:114836501..114836502 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.765T>A (p.Tyr255Ter) single nucleotide variant Aortic valve disease 2 [RCV001385806] Chr12:114366382 [GRCh38]
Chr12:114804187 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.57A>C (p.Ala19=) single nucleotide variant Aortic valve disease 2 [RCV001419758] Chr12:114403842 [GRCh38]
Chr12:114841647 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.125C>T (p.Pro42Leu) single nucleotide variant Aortic valve disease 2 [RCV001450648] Chr12:114403774 [GRCh38]
Chr12:114841579 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.948G>A (p.Glu316=) single nucleotide variant Aortic valve disease 2 [RCV001515695] Chr12:114366199 [GRCh38]
Chr12:114804004 [GRCh37]
Chr12:12q24.21
benign
NM_181486.4(TBX5):c.262A>T (p.Lys88Ter) single nucleotide variant Holt-Oram syndrome [RCV001530478] Chr12:114399613 [GRCh38]
Chr12:114837418 [GRCh37]
Chr12:12q24.21
pathogenic
NM_181486.4(TBX5):c.1302C>T (p.Pro434=) single nucleotide variant Aortic valve disease 2 [RCV001460099] Chr12:114355787 [GRCh38]
Chr12:114793592 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.865T>G (p.Ser289Ala) single nucleotide variant Aortic valve disease 2 [RCV001437133] Chr12:114366282 [GRCh38]
Chr12:114804087 [GRCh37]
Chr12:12q24.21
likely benign
NM_181486.4(TBX5):c.1413G>A (p.Gly471=) single nucleotide variant Aortic valve disease 2 [RCV001477267] Chr12:114355676 [GRCh38]
Chr12:114793481 [GRCh37]
Chr12:12q24.21
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11604 AgrOrtholog
COSMIC TBX5 COSMIC
Ensembl Genes ENSG00000089225 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000309913 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000337723 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384152 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000433292 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000310346 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000349716 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000405440 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000526441 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.820 UniProtKB/Swiss-Prot
GTEx ENSG00000089225 GTEx
HGNC ID HGNC:11604 ENTREZGENE
Human Proteome Map TBX5 Human Proteome Map
InterPro p53-like_TF_DNA-bd UniProtKB/Swiss-Prot
  T-box_sf UniProtKB/Swiss-Prot
  TF_T-box UniProtKB/Swiss-Prot
  TF_T-box_CS UniProtKB/Swiss-Prot
KEGG Report hsa:6910 UniProtKB/Swiss-Prot
NCBI Gene 6910 ENTREZGENE
OMIM 142900 OMIM
  601620 OMIM
PANTHER PTHR11267 UniProtKB/Swiss-Prot
Pfam T-box UniProtKB/Swiss-Prot
PharmGKB PA36367 PharmGKB
PRINTS TBOX UniProtKB/Swiss-Prot
PROSITE TBOX_1 UniProtKB/Swiss-Prot
  TBOX_2 UniProtKB/Swiss-Prot
  TBOX_3 UniProtKB/Swiss-Prot
SMART TBOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49417 UniProtKB/Swiss-Prot
UniProt Q99593 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6ND77 UniProtKB/Swiss-Prot
  O15301 UniProtKB/Swiss-Prot
  Q96TB0 UniProtKB/Swiss-Prot
  Q9Y4I2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-11 TBX5  T-box transcription factor 5  TBX5  T-box 5  Symbol and/or name change 5135510 APPROVED