TBX22 (T-box transcription factor 22) - Rat Genome Database

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Gene: TBX22 (T-box transcription factor 22) Homo sapiens
Analyze
Symbol: TBX22
Name: T-box transcription factor 22
RGD ID: 1343120
HGNC Page HGNC
Description: Exhibits RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Localizes to nucleus. Implicated in Abruzzo-Erickson syndrome; X-linked cleft palate with or without ankyloglossia; and cleft palate.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABERS; cleft palate and/or ankyloglossia; CLPA; CPX; dJ795G23.1; T-box 22; T-box protein 22; T-box transcription factor TBX22; TBXX
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
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 EnsemblX80,014,753 - 80,031,774 (+)EnsemblGRCh38hg38GRCh38
GRCh38X80,014,753 - 80,031,774 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X79,270,252 - 79,287,273 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X79,156,911 - 79,173,924 (+)NCBINCBI36hg18NCBI36
Build 34X79,083,886 - 79,093,413NCBI
CeleraX79,510,188 - 79,527,202 (+)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX72,851,434 - 72,868,446 (+)NCBIHuRef
CHM1_1X79,163,473 - 79,180,486 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Additional References at PubMed
PMID:11024289   PMID:11559848   PMID:11733204   PMID:12477932   PMID:12668595   PMID:14702039   PMID:14729838   PMID:15479962   PMID:15489334   PMID:15602089   PMID:15772651   PMID:16247549  
PMID:17606301   PMID:17846996   PMID:17868388   PMID:18029348   PMID:19274049   PMID:19648124   PMID:20572854   PMID:20672350   PMID:21244100   PMID:21248356   PMID:21375406   PMID:21832049  
PMID:21873635   PMID:21905918   PMID:22438645   PMID:22784330   PMID:22851992   PMID:22939624   PMID:23973723   PMID:24475022   PMID:24641171   PMID:25373698   PMID:25416956   PMID:25918826  
PMID:28514442   PMID:29932061   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
TBX22
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX80,014,753 - 80,031,774 (+)EnsemblGRCh38hg38GRCh38
GRCh38X80,014,753 - 80,031,774 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X79,270,252 - 79,287,273 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X79,156,911 - 79,173,924 (+)NCBINCBI36hg18NCBI36
Build 34X79,083,886 - 79,093,413NCBI
CeleraX79,510,188 - 79,527,202 (+)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX72,851,434 - 72,868,446 (+)NCBIHuRef
CHM1_1X79,163,473 - 79,180,486 (+)NCBICHM1_1
Tbx22
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X106,711,570 - 106,732,586 (+)NCBIGRCm39mm39
GRCm39 EnsemblX106,711,570 - 106,732,584 (+)Ensembl
GRCm38X107,667,964 - 107,688,980 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX107,667,964 - 107,688,978 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X104,863,303 - 104,884,319 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X103,870,683 - 103,891,696 (+)NCBImm8
CeleraX94,504,313 - 94,525,357 (+)NCBICelera
Cytogenetic MapXDNCBI
cM MapX47.59NCBI
Tbx22
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X72,723,619 - 72,774,647 (+)NCBI
Rnor_6.0 EnsemblX78,769,419 - 78,782,542 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X78,731,738 - 78,782,542 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X78,929,291 - 78,980,062 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X95,912,796 - 95,926,843 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X95,985,061 - 95,986,580 (+)NCBI
CeleraX74,042,349 - 74,055,976 (+)NCBICelera
Cytogenetic MapXq22NCBI
Tbx22
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955529553,738 - 573,388 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955529541,057 - 573,486 (+)NCBIChiLan1.0ChiLan1.0
TBX22
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X79,177,534 - 79,194,546 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX79,177,534 - 79,198,782 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X69,070,218 - 69,087,243 (+)NCBIMhudiblu_PPA_v0panPan3
Tbx22
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X55,324,345 - 55,334,449 (+)NCBI
SpeTri2.0NW_0049365471,645,118 - 1,654,332 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBX22
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX63,837,576 - 63,847,436 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X63,837,576 - 63,845,704 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X73,272,832 - 73,280,975 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TBX22
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X68,969,570 - 68,991,933 (+)NCBI
ChlSab1.1 EnsemblX68,978,310 - 68,987,228 (+)Ensembl
Vero_WHO_p1.0NW_02366606712,306,460 - 12,316,037 (-)NCBI
Tbx22
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248361,021,089 - 1,071,069 (-)NCBI

Position Markers
TBX22_728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X79,286,565 - 79,287,333UniSTSGRCh37
Build 36X79,173,221 - 79,173,989RGDNCBI36
CeleraX79,526,499 - 79,527,267RGD
HuRefX72,867,743 - 72,868,511UniSTS
L47783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X79,269,403 - 79,269,485UniSTSGRCh37
Build 36X79,156,059 - 79,156,141RGDNCBI36
CeleraX79,509,336 - 79,509,418RGD
Cytogenetic MapXq21.1UniSTS
HuRefX72,850,582 - 72,850,664UniSTS
D12S396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X79,275,732 - 79,275,940UniSTSGRCh37
Build 36X79,162,388 - 79,162,596RGDNCBI36
CeleraX79,515,665 - 79,515,873RGD
Cytogenetic MapXq21.1UniSTS
HuRefX72,856,910 - 72,857,118UniSTS
Whitehead-YAC Contig MapX UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1396
Count of miRNA genes:552
Interacting mature miRNAs:618
Transcripts:ENST00000373291, ENST00000373294, ENST00000373296, ENST00000442340, ENST00000476373
Prediction methods: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.


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 adipose tissue appendage
High
Medium 402 1 364 402
Low 2 162 284 5 19 1 308 5 64 22 90 281 3 7 178
Below cutoff 988 1817 473 168 275 40 2718 1012 1607 87 459 240 128 426 1892

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000373294   ⟹   ENSP00000362390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX80,022,242 - 80,031,769 (+)Ensembl
RefSeq Acc Id: ENST00000373296   ⟹   ENSP00000362393
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX80,014,753 - 80,031,774 (+)Ensembl
RefSeq Acc Id: ENST00000476373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX80,014,769 - 80,022,654 (+)Ensembl
RefSeq Acc Id: ENST00000626498   ⟹   ENSP00000487527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX80,014,756 - 80,031,373 (+)Ensembl
RefSeq Acc Id: ENST00000626877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX80,023,069 - 80,031,769 (+)Ensembl
RefSeq Acc Id: NM_001109878   ⟹   NP_001103348
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X80,014,753 - 80,031,774 (+)NCBI
GRCh37X79,270,255 - 79,287,268 (+)ENTREZGENE
Build 36X79,156,911 - 79,173,924 (+)NCBI Archive
HuRefX72,851,434 - 72,868,446 (+)ENTREZGENE
CHM1_1X79,163,473 - 79,180,486 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001109879   ⟹   NP_001103349
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X80,014,753 - 80,031,774 (+)NCBI
GRCh37X79,270,255 - 79,287,268 (+)ENTREZGENE
Build 36X79,156,911 - 79,173,924 (+)NCBI Archive
HuRefX72,851,434 - 72,868,446 (+)ENTREZGENE
CHM1_1X79,163,473 - 79,180,486 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001303475   ⟹   NP_001290404
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X80,023,060 - 80,031,769 (+)NCBI
CHM1_1X79,171,777 - 79,180,486 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016954   ⟹   NP_058650
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X80,022,243 - 80,031,769 (+)NCBI
GRCh37X79,270,255 - 79,287,268 (+)ENTREZGENE
Build 36X79,164,398 - 79,173,924 (+)NCBI Archive
HuRefX72,851,434 - 72,868,446 (+)ENTREZGENE
CHM1_1X79,170,960 - 79,180,486 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001103348   ⟸   NM_001109878
- Peptide Label: isoform 1
- UniProtKB: Q9Y458 (UniProtKB/Swiss-Prot),   B3KUL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001103349   ⟸   NM_001109879
- Peptide Label: isoform 2
- UniProtKB: Q9Y458 (UniProtKB/Swiss-Prot),   B3KUL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_058650   ⟸   NM_016954
- Peptide Label: isoform 1
- UniProtKB: Q9Y458 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001290404   ⟸   NM_001303475
- Peptide Label: isoform 2
- UniProtKB: Q9Y458 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000362390   ⟸   ENST00000373294
RefSeq Acc Id: ENSP00000362393   ⟸   ENST00000373296
RefSeq Acc Id: ENSP00000487527   ⟸   ENST00000626498

Promoters
RGD ID:13627530
Promoter ID:EPDNEW_H29040
Type:initiation region
Name:TBX22_1
Description:T-box 22
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X80,014,753 - 80,014,813EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001109878.2(TBX22):c.863+1G>C single nucleotide variant Cleft palate with ankyloglossia [RCV000012081] ChrX:80027321 [GRCh38]
ChrX:79282820 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001109878.2(TBX22):c.779C>T (p.Thr260Met) single nucleotide variant Cleft palate with ankyloglossia [RCV000012082] ChrX:80026849 [GRCh38]
ChrX:79282348 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001109878.2(TBX22):c.352G>T (p.Gly118Cys) single nucleotide variant Cleft palate with ankyloglossia [RCV000012083] ChrX:80023236 [GRCh38]
ChrX:79278735 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001109878.2(TBX22):c.633+1G>A single nucleotide variant Cleft palate with ankyloglossia [RCV000012084] ChrX:80025778 [GRCh38]
ChrX:79281277 [GRCh37]
ChrX:Xq21.1
pathogenic
TBX22, 1-BP DEL, 671C deletion Cleft palate with ankyloglossia [RCV000012085] ChrX:Xq12-q21 pathogenic
NM_001109878.2(TBX22):c.166G>T (p.Glu56Ter) single nucleotide variant Cleft palate with ankyloglossia [RCV000012086] ChrX:80022435 [GRCh38]
ChrX:79277934 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001109878.2(TBX22):c.641T>C (p.Leu214Pro) single nucleotide variant Cleft palate with ankyloglossia [RCV000012087] ChrX:80026711 [GRCh38]
ChrX:79282210 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001109878.2(TBX22):c.584_586dup (p.Phe196_Asp197insCys) duplication Cleft palate with ankyloglossia [RCV000012088] ChrX:80025727..80025728 [GRCh38]
ChrX:79281226..79281227 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001109878.2(TBX22):c.790A>T (p.Asn264Tyr) single nucleotide variant Cleft palate with ankyloglossia [RCV000012089] ChrX:80026860 [GRCh38]
ChrX:79282359 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001109878.2(TBX22):c.1252del (p.Val418fs) deletion Cleft palate with or without ankyloglossia, X-linked [RCV000012090] ChrX:80030796 [GRCh38]
ChrX:79286295 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001109878.2(TBX22):c.459-5T>A single nucleotide variant Abruzzo-Erickson syndrome [RCV000043504]|not provided [RCV000497861] ChrX:80025598 [GRCh38]
ChrX:79281097 [GRCh37]
ChrX:Xq21.1
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-21.31(chrX:79372269-91308122)x1 copy number loss See cases [RCV000050772] ChrX:79372269..91308122 [GRCh38]
ChrX:78627766..90563121 [GRCh37]
ChrX:78514422..90449777 [NCBI36]
ChrX:Xq21.1-21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001109878.1(TBX22):c.376C>T (p.Arg126Trp) single nucleotide variant Malignant melanoma [RCV000063975] ChrX:80024082 [GRCh38]
ChrX:79279581 [GRCh37]
ChrX:79166237 [NCBI36]
ChrX:Xq21.1
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001109878.2(TBX22):c.*57A>T single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000262346] ChrX:80031168 [GRCh38]
ChrX:79286667 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001109878.2(TBX22):c.798+11T>C single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000272366] ChrX:80026879 [GRCh38]
ChrX:79282378 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001109878.2(TBX22):c.-2-7C>A single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000361057] ChrX:80022261 [GRCh38]
ChrX:79277760 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001109878.2(TBX22):c.949+12T>G single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000363513] ChrX:80028088 [GRCh38]
ChrX:79283587 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_001109878.2(TBX22):c.1412C>T (p.Ser471Phe) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000277730] ChrX:80030960 [GRCh38]
ChrX:79286459 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001109878.2(TBX22):c.*347T>C single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000372103] ChrX:80031458 [GRCh38]
ChrX:79286957 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_001109878.2(TBX22):c.*97C>A single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000319728] ChrX:80031208 [GRCh38]
ChrX:79286707 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001109878.2(TBX22):c.*533A>T single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000279917] ChrX:80031644 [GRCh38]
ChrX:79287143 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001109878.2(TBX22):c.72C>T (p.Leu24=) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000400529]|not provided [RCV000960995] ChrX:80022341 [GRCh38]
ChrX:79277840 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_001109878.2(TBX22):c.883T>C (p.Leu295=) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000325138] ChrX:80028010 [GRCh38]
ChrX:79283509 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_001109878.2(TBX22):c.1544C>A (p.Ala515Glu) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000330393] ChrX:80031092 [GRCh38]
ChrX:79286591 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001109878.2(TBX22):c.-103G>A single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000334771] ChrX:80014787 [GRCh38]
ChrX:79270286 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_001109878.2(TBX22):c.-28G>A single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000399140] ChrX:80014862 [GRCh38]
ChrX:79270361 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001109878.2(TBX22):c.*6C>A single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000387194] ChrX:80031117 [GRCh38]
ChrX:79286616 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_001109878.2(TBX22):c.554C>T (p.Ser185Leu) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000302811] ChrX:80025698 [GRCh38]
ChrX:79281197 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001109878.2(TBX22):c.-23A>G single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000304000] ChrX:80014867 [GRCh38]
ChrX:79270366 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001109878.2(TBX22):c.559G>A (p.Glu187Lys) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000364607] ChrX:80025703 [GRCh38]
ChrX:79281202 [GRCh37]
ChrX:Xq21.1
benign|likely benign
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001109878.2(TBX22):c.176-13C>A single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000990887]|not provided [RCV000513907] ChrX:80023047 [GRCh38]
ChrX:79278546 [GRCh37]
ChrX:Xq21.1
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001109878.2(TBX22):c.899G>A (p.Trp300Ter) single nucleotide variant not provided [RCV000523410] ChrX:80028026 [GRCh38]
ChrX:79283525 [GRCh37]
ChrX:Xq21.1
likely pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001109878.2(TBX22):c.448A>C (p.Lys150Gln) single nucleotide variant Oral cleft [RCV000626748] ChrX:80024154 [GRCh38]
ChrX:79279653 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1(chrX:79220877-79283509)x0 copy number loss not provided [RCV000753626] ChrX:79220877..79283509 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001109878.2(TBX22):c.1169C>A (p.Ala390Asp) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV001165991] ChrX:80030717 [GRCh38]
ChrX:79286216 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001109878.2(TBX22):c.804G>A (p.Thr268=) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV001168879]|not provided [RCV000904262] ChrX:80027261 [GRCh38]
ChrX:79282760 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001109878.2(TBX22):c.1212C>T (p.Ala404=) single nucleotide variant not provided [RCV000918434] ChrX:80030760 [GRCh38]
ChrX:79286259 [GRCh37]
ChrX:Xq21.1
benign
NM_001109878.2(TBX22):c.936C>T (p.Gly312=) single nucleotide variant not provided [RCV000897220] ChrX:80028063 [GRCh38]
ChrX:79283562 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001109878.2(TBX22):c.702C>T (p.Asp234=) single nucleotide variant not provided [RCV000900987] ChrX:80026772 [GRCh38]
ChrX:79282271 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001109878.2(TBX22):c.1377C>A (p.Ile459=) single nucleotide variant not provided [RCV000930026] ChrX:80030925 [GRCh38]
ChrX:79286424 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001109878.2(TBX22):c.1090C>T (p.Leu364=) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV001165990]|not provided [RCV000961819] ChrX:80030638 [GRCh38]
ChrX:79286137 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001109878.2(TBX22):c.930C>A (p.Thr310=) single nucleotide variant not provided [RCV000914558] ChrX:80028057 [GRCh38]
ChrX:79283556 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001109878.2(TBX22):c.240C>T (p.Tyr80=) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV001168125] ChrX:80023124 [GRCh38]
ChrX:79278623 [GRCh37]
ChrX:Xq21.1
likely benign
GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1 copy number loss not provided [RCV000847338] ChrX:74667077..90312981 [GRCh37]
ChrX:Xq13.3-21.31
pathogenic
NM_001109878.2(TBX22):c.224G>T (p.Gly75Val) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV001168124] ChrX:80023108 [GRCh38]
ChrX:79278607 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001109878.2(TBX22):c.864-11C>T single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV001168880] ChrX:80027980 [GRCh38]
ChrX:79283479 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001109878.2(TBX22):c.*293T>C single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV001167559] ChrX:80031404 [GRCh38]
ChrX:79286903 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_001109878.2(TBX22):c.356+6G>C single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV001168127] ChrX:80023246 [GRCh38]
ChrX:79278745 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001109878.2(TBX22):c.799-13A>G single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV001168878] ChrX:80027243 [GRCh38]
ChrX:79282742 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001109878.2(TBX22):c.780G>A (p.Thr260=) single nucleotide variant not provided [RCV000931022] ChrX:80026850 [GRCh38]
ChrX:79282349 [GRCh37]
ChrX:Xq21.1
benign
NM_001109878.2(TBX22):c.1488C>T (p.Asp496=) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV001165992]|not provided [RCV000885637] ChrX:80031036 [GRCh38]
ChrX:79286535 [GRCh37]
ChrX:Xq21.1
likely benign|uncertain significance
NM_001109878.2(TBX22):c.1424A>T (p.Tyr475Phe) single nucleotide variant not provided [RCV000933406] ChrX:80030972 [GRCh38]
ChrX:79286471 [GRCh37]
ChrX:Xq21.1
benign
NM_001109878.2(TBX22):c.176-9G>A single nucleotide variant not provided [RCV000911933] ChrX:80023051 [GRCh38]
ChrX:79278550 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001109878.2(TBX22):c.-2-7C>G single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV000990886] ChrX:80022261 [GRCh38]
ChrX:79277760 [GRCh37]
ChrX:Xq21.1
benign
NM_001109878.2(TBX22):c.302T>A (p.Leu101Gln) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV001168126] ChrX:80023186 [GRCh38]
ChrX:79278685 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001109878.2(TBX22):c.143G>A (p.Arg48Lys) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV001168123] ChrX:80022412 [GRCh38]
ChrX:79277911 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001109878.2(TBX22):c.549C>G (p.Pro183=) single nucleotide variant Cleft palate with or without ankyloglossia, X-linked [RCV001168877] ChrX:80025693 [GRCh38]
ChrX:79281192 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001109878.2(TBX22):c.458+1G>A single nucleotide variant not provided [RCV001268735] ChrX:80024165 [GRCh38]
ChrX:79279664 [GRCh37]
ChrX:Xq21.1
likely pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11600 AgrOrtholog
COSMIC TBX22 COSMIC
Ensembl Genes ENSG00000122145 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000277800 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000362390 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362393 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000479825 UniProtKB/Swiss-Prot
  ENSP00000485704 UniProtKB/TrEMBL
  ENSP00000485926 UniProtKB/TrEMBL
  ENSP00000487295 UniProtKB/Swiss-Prot
  ENSP00000487527 UniProtKB/TrEMBL
Ensembl Transcript ENST00000373294 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373296 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000619509 UniProtKB/Swiss-Prot
  ENST00000625441 UniProtKB/TrEMBL
  ENST00000626498 UniProtKB/TrEMBL
  ENST00000626877 ENTREZGENE
  ENST00000628739 UniProtKB/TrEMBL
  ENST00000628957 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000122145 GTEx
  ENSG00000277800 GTEx
HGNC ID HGNC:11600 ENTREZGENE
Human Proteome Map TBX22 Human Proteome Map
InterPro p53-like_TF_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T-box_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_T-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_T-box_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:50945 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 50945 ENTREZGENE
OMIM 300307 OMIM
  302905 OMIM
  303400 OMIM
PANTHER PTHR11267 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam T-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36363 PharmGKB
PRINTS 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 A0A0D9SGI2_HUMAN UniProtKB/TrEMBL
  A0A0G2JQK0_HUMAN UniProtKB/TrEMBL
  A0A385I6V6_HUMAN UniProtKB/TrEMBL
  A0A385I6V8_HUMAN UniProtKB/TrEMBL
  B3KUL8 ENTREZGENE, UniProtKB/TrEMBL
  C3TX51_HUMAN UniProtKB/TrEMBL
  Q9Y458 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5JZ06 UniProtKB/Swiss-Prot
  Q96LC0 UniProtKB/Swiss-Prot
  Q9HBF1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-11 TBX22  T-box transcription factor 22  TBX22  T-box 22  Symbol and/or name change 5135510 APPROVED
2016-04-05 TBX22  T-box 22  CPX  cleft palate and/or ankyloglossia  Data Merged 737654 PROVISIONAL
2011-08-17 TBX22  T-box 22  TBX22  T-box 22  Symbol and/or name change 5135510 APPROVED