POU3F4 (POU class 3 homeobox 4) - Rat Genome Database

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Gene: POU3F4 (POU class 3 homeobox 4) Homo sapiens
Analyze
Symbol: POU3F4
Name: POU class 3 homeobox 4
RGD ID: 732459
HGNC Page HGNC
Description: Exhibits sequence-specific double-stranded DNA binding activity. Predicted to be involved in cochlea morphogenesis; negative regulation of mesenchymal cell apoptotic process; and regulation of transcription by RNA polymerase II. Localizes to nucleoplasm. Implicated in X-linked deafness 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BRAIN-4; brain-specific homeobox/POU domain protein 4; BRN-4; BRN4; DFN3; DFNX2; OCT-9; octamer-binding protein 9; octamer-binding transcription factor 9; OTF-9; OTF9; POU domain, class 3, transcription factor 4
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 EnsemblX83,508,290 - 83,512,127 (+)EnsemblGRCh38hg38GRCh38
GRCh38X83,508,290 - 83,512,127 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X82,763,298 - 82,767,135 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X82,649,941 - 82,651,431 (+)NCBINCBI36hg18NCBI36
Build 34X82,569,445 - 82,570,920NCBI
CeleraX83,000,650 - 83,002,156 (+)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX76,337,125 - 76,338,589 (+)NCBIHuRef
CHM1_1X82,657,165 - 82,658,671 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Additional References at PubMed
PMID:7581392   PMID:7911044   PMID:8791518   PMID:9105675   PMID:9131020   PMID:9667433   PMID:9778298   PMID:9889200   PMID:12062767   PMID:15772651   PMID:16229168   PMID:19274049  
PMID:19438930   PMID:19671658   PMID:19930154   PMID:20301607   PMID:20412083   PMID:20668882   PMID:21193157   PMID:21209840   PMID:21250553   PMID:21555964   PMID:21873635   PMID:22201925  
PMID:22389666   PMID:22455811   PMID:23076972   PMID:23400403   PMID:23606368   PMID:24608376   PMID:24687041   PMID:25130324   PMID:25928534   PMID:26499074   PMID:26600195   PMID:27577114  
PMID:27941975   PMID:28051029   PMID:28473536   PMID:30176854   PMID:31371344   PMID:31786483  


Genomics

Comparative Map Data
POU3F4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX83,508,290 - 83,512,127 (+)EnsemblGRCh38hg38GRCh38
GRCh38X83,508,290 - 83,512,127 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X82,763,298 - 82,767,135 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X82,649,941 - 82,651,431 (+)NCBINCBI36hg18NCBI36
Build 34X82,569,445 - 82,570,920NCBI
CeleraX83,000,650 - 83,002,156 (+)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX76,337,125 - 76,338,589 (+)NCBIHuRef
CHM1_1X82,657,165 - 82,658,671 (+)NCBICHM1_1
Pou3f4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X109,857,985 - 109,862,714 (+)NCBIGRCm39mm39
GRCm39 EnsemblX109,857,886 - 109,860,813 (+)Ensembl
GRCm38X110,814,379 - 110,819,108 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX110,814,280 - 110,817,207 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X108,009,804 - 108,010,889 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X107,017,184 - 107,018,269 (+)NCBImm8
CeleraX97,632,784 - 97,633,869 (+)NCBICelera
Cytogenetic MapXE1NCBI
cM MapX48.2NCBI
Pou3f4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X75,858,646 - 75,859,923 (+)NCBI
Rnor_6.0 EnsemblX82,143,789 - 82,145,066 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X82,143,789 - 82,145,066 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X82,301,578 - 82,302,855 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X99,214,446 - 99,215,723 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X99,287,906 - 99,289,156 (+)NCBI
CeleraX77,112,524 - 77,113,801 (+)NCBICelera
Cytogenetic MapXq31NCBI
Pou3f4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555292,726,133 - 2,727,218 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555292,726,121 - 2,727,311 (+)NCBIChiLan1.0ChiLan1.0
POU3F4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X82,666,699 - 82,668,337 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX82,666,757 - 82,667,842 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X72,563,887 - 72,568,233 (+)NCBIMhudiblu_PPA_v0panPan3
POU3F4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X64,427,161 - 64,428,825 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX64,427,325 - 64,428,410 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX55,185,767 - 55,187,326 (+)NCBI
ROS_Cfam_1.0X65,745,624 - 65,747,183 (+)NCBI
UMICH_Zoey_3.1X63,406,449 - 63,408,008 (+)NCBI
UNSW_CanFamBas_1.0X65,024,007 - 65,025,564 (+)NCBI
UU_Cfam_GSD_1.0X64,613,109 - 64,614,668 (+)NCBI
Pou3f4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X58,133,789 - 58,135,350 (+)NCBI
SpeTri2.0NW_0049365474,454,239 - 4,455,460 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POU3F4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX66,765,066 - 66,766,160 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X66,765,044 - 66,766,642 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X76,477,799 - 76,479,225 (+)NCBISscrofa10.2Sscrofa10.2susScr3
POU3F4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X72,379,656 - 72,381,186 (+)NCBI
ChlSab1.1 EnsemblX72,379,979 - 72,381,064 (+)Ensembl
Pou3f4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248525,036,585 - 5,040,160 (-)NCBI

Position Markers
Pou3f4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X82,763,420 - 82,764,394UniSTSGRCh37
GRCh37X82,763,454 - 82,764,101UniSTSGRCh37
Build 36X82,650,076 - 82,651,050RGDNCBI36
CeleraX83,000,835 - 83,001,482UniSTS
CeleraX83,000,801 - 83,001,775RGD
HuRefX76,337,277 - 76,338,208UniSTS
HuRefX76,337,311 - 76,337,915UniSTS
POU3F4__1217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X82,763,996 - 82,764,781UniSTSGRCh37
Build 36X82,650,652 - 82,651,437RGDNCBI36
CeleraX83,001,377 - 83,002,162RGD
HuRefX76,337,810 - 76,338,595UniSTS
RH79170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X82,764,533 - 82,764,663UniSTSGRCh37
Build 36X82,651,189 - 82,651,319RGDNCBI36
CeleraX83,001,914 - 83,002,044RGD
Cytogenetic MapXq21.1UniSTS
HuRefX76,338,347 - 76,338,477UniSTS
GeneMap99-GB4 RH MapX271.6UniSTS
UniSTS:481354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X82,763,301 - 82,764,539UniSTSGRCh37
CeleraX83,000,682 - 83,001,920UniSTS
HuRefX76,337,157 - 76,338,353UniSTS
UniSTS:486237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X82,763,313 - 82,764,548UniSTSGRCh37
CeleraX83,000,694 - 83,001,929UniSTS
HuRefX76,337,169 - 76,338,362UniSTS
Pou3f4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X82,763,420 - 82,764,394UniSTSGRCh37
GRCh37X82,763,454 - 82,764,101UniSTSGRCh37
Build 36X82,650,076 - 82,651,050RGDNCBI36
CeleraX83,000,835 - 83,001,482UniSTS
CeleraX83,000,801 - 83,001,775RGD
HuRefX76,337,277 - 76,338,208UniSTS
HuRefX76,337,311 - 76,337,915UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:217
Count of miRNA genes:140
Interacting mature miRNAs:147
Transcripts:ENST00000373200
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 adipose tissue appendage
High
Medium 1 1 1 1 516 16 2 5
Low 414 45 9 5 2 160 5 2158 68 28 24 1 1 24
Below cutoff 670 1104 593 116 227 32 1762 491 574 102 353 690 84 336 1247

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000644024   ⟹   ENSP00000495996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX83,508,290 - 83,512,127 (+)Ensembl
RefSeq Acc Id: NM_000307   ⟹   NP_000298
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X83,508,290 - 83,512,127 (+)NCBI
GRCh37X82,763,269 - 82,764,775 (+)ENTREZGENE
Build 36X82,649,941 - 82,651,431 (+)NCBI Archive
HuRefX76,337,125 - 76,338,589 (+)ENTREZGENE
CHM1_1X82,657,165 - 82,658,671 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000298 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAG37468 (Get FASTA)   NCBI Sequence Viewer  
  CAA57767 (Get FASTA)   NCBI Sequence Viewer  
  EAW98577 (Get FASTA)   NCBI Sequence Viewer  
  P49335 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000298   ⟸   NM_000307
- UniProtKB: P49335 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000495996   ⟸   ENST00000644024
Protein Domains
Homeobox   POU-specific


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000307.4(POU3F4):c.651delG (p.Ala218Argfs) deletion Deafness, X-linked 2 [RCV000144386] ChrX:83508975 [GRCh38]
ChrX:82763983 [GRCh37]
ChrX:Xq21.1
not provided
NM_000307.4(POU3F4):c.896delA (p.Lys299Serfs) deletion Deafness, X-linked 2 [RCV000144387] ChrX:83509219 [GRCh38]
ChrX:82764227 [GRCh37]
ChrX:Xq21.1
pathogenic|not provided
NM_000307.5(POU3F4):c.950dup (p.Leu317fs) duplication Deafness, X-linked 2 [RCV000034343] ChrX:83509272..83509273 [GRCh38]
ChrX:82764280..82764281 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.1060del (p.Thr354fs) deletion Deafness, X-linked 2 [RCV000034344] ChrX:83509381 [GRCh38]
ChrX:82764389 [GRCh37]
ChrX:Xq21.1
pathogenic
POU3F4, LEU298TER variation Deafness, X-linked 2 [RCV000012442] ChrX:Xq21.1 pathogenic
NM_000307.5(POU3F4):c.648del (p.Leu217fs) deletion Deafness, X-linked 2 [RCV000012443] ChrX:83508969 [GRCh38]
ChrX:82763977 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter) single nucleotide variant Deafness, X-linked 2 [RCV000012444] ChrX:83508928 [GRCh38]
ChrX:82763936 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp) single nucleotide variant Deafness, X-linked 2 [RCV000012445] ChrX:83509274 [GRCh38]
ChrX:82764282 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu) single nucleotide variant Deafness, X-linked 2 [RCV000012446] ChrX:83509324 [GRCh38]
ChrX:82764332 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.862_865del (p.Val289fs) deletion Deafness, X-linked 2 [RCV000012447] ChrX:83509183..83509186 [GRCh38]
ChrX:82764191..82764194 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.935C>T (p.Ala312Val) single nucleotide variant Deafness, X-linked 2 [RCV000012448] ChrX:83509259 [GRCh38]
ChrX:82764267 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser) single nucleotide variant Deafness, X-linked 2 [RCV000012449] ChrX:83509314 [GRCh38]
ChrX:82764322 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly) single nucleotide variant Deafness, X-linked 2 [RCV000012450] ChrX:83509291 [GRCh38]
ChrX:82764299 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter) single nucleotide variant Rare genetic deafness [RCV000036254] ChrX:83508665 [GRCh38]
ChrX:82763673 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_000307.5(POU3F4):c.499C>T (p.Arg167Ter) single nucleotide variant Rare genetic deafness [RCV000036255] ChrX:83508823 [GRCh38]
ChrX:82763831 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.506C>T (p.Pro169Leu) single nucleotide variant not specified [RCV000036256] ChrX:83508830 [GRCh38]
ChrX:82763838 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000307.5(POU3F4):c.710= (p.Ala237=) single nucleotide variant Deafness, X-linked 2 [RCV000990891]|not specified [RCV000036257] ChrX:83509034 [GRCh38]
ChrX:82764042 [GRCh37]
ChrX:Xq21.1
benign
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr) single nucleotide variant Rare genetic deafness [RCV000036258] ChrX:83509019 [GRCh38]
ChrX:82764027 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_000307.5(POU3F4):c.708= (p.Glu236=) single nucleotide variant Deafness, X-linked 2 [RCV001001578]|not specified [RCV000036259] ChrX:83509032 [GRCh38]
ChrX:82764040 [GRCh37]
ChrX:Xq21.1
benign
NM_000307.5(POU3F4):c.853_854del (p.Ile285fs) deletion Deafness, X-linked 2 [RCV001004804]|Rare genetic deafness [RCV000036260] ChrX:83509177..83509178 [GRCh38]
ChrX:82764185..82764186 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.924_926CTC[1] (p.Ser310del) microsatellite not specified [RCV000036261] ChrX:83509248..83509250 [GRCh38]
ChrX:82764256..82764258 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000307.5(POU3F4):c.964G>A (p.Val322Met) single nucleotide variant not specified [RCV000036262] ChrX:83509288 [GRCh38]
ChrX:82764296 [GRCh37]
ChrX:Xq21.1
uncertain significance
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:10679-156022206)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 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 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 Xq21.1-21.2(chrX:81762602-86457999)x1 copy number loss See cases [RCV000051707] ChrX:81762602..86457999 [GRCh38]
ChrX:81018101..85713002 [GRCh37]
ChrX:80904757..85599658 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81765008-86444979)x0 copy number loss See cases [RCV000051709] ChrX:81765008..86444979 [GRCh38]
ChrX:81020507..85699982 [GRCh37]
ChrX:80907163..85586638 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq21.1(chrX:82075288-83982093)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051710]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051710]|See cases [RCV000051710] ChrX:82075288..83982093 [GRCh38]
ChrX:81330737..83237101 [GRCh37]
ChrX:81217393..83123757 [NCBI36]
ChrX:Xq21.1
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 Xq21.1-21.2(chrX:80329330-86150446)x1 copy number loss See cases [RCV000051670] ChrX:80329330..86150446 [GRCh38]
ChrX:79584829..85405450 [GRCh37]
ChrX:79471485..85292106 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81762601-86471468)x1 copy number loss See cases [RCV000051673] ChrX:81762601..86471468 [GRCh38]
ChrX:81018100..85726471 [GRCh37]
ChrX:80904756..85613127 [NCBI36]
ChrX:Xq21.1-21.2
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: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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
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
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
NM_000307.5(POU3F4):c.885G>C (p.Thr295=) single nucleotide variant not provided [RCV000173105] ChrX:83509209 [GRCh38]
ChrX:82764217 [GRCh37]
ChrX:Xq21.1
uncertain significance
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)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: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: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: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: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: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 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
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 Xq21.1-21.2(chrX:81930916-85965282)x1 copy number loss See cases [RCV000135328] ChrX:81930916..85965282 [GRCh38]
ChrX:81186415..85220287 [GRCh37]
ChrX:81073071..85106943 [NCBI36]
ChrX:Xq21.1-21.2
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: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-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-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: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 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 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 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 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 Xp22.33-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 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1(chrX:82776908-83861442)x2 copy number gain See cases [RCV000139887] ChrX:82776908..83861442 [GRCh38]
ChrX:82031916..83116450 [GRCh37]
ChrX:81918572..83003106 [NCBI36]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xq21.1-21.31(chrX:80722314-92152619)x0 copy number loss See cases [RCV000139635] ChrX:80722314..92152619 [GRCh38]
ChrX:79977813..91407618 [GRCh37]
ChrX:79864469..91294274 [NCBI36]
ChrX:Xq21.1-21.31
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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
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 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
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 Xq21.1(chrX:80921556-83715625)x0 copy number loss See cases [RCV000142679] ChrX:80921556..83715625 [GRCh38]
ChrX:80177055..82970633 [GRCh37]
ChrX:80063711..82857289 [NCBI36]
ChrX:Xq21.1
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
NM_000307.5(POU3F4):c.968G>A (p.Arg323His) single nucleotide variant Rare genetic deafness [RCV000156766] ChrX:83509292 [GRCh38]
ChrX:82764300 [GRCh37]
ChrX:Xq21.1
likely pathogenic|uncertain significance
NM_000307.5(POU3F4):c.483C>A (p.Ser161Arg) single nucleotide variant not specified [RCV000151667] ChrX:83508807 [GRCh38]
ChrX:82763815 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000307.5(POU3F4):c.967C>T (p.Arg323Cys) single nucleotide variant not specified [RCV000151670] ChrX:83509291 [GRCh38]
ChrX:82764299 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000307.5(POU3F4):c.1086_*3del (p.Ter362TrpextTer?) deletion Rare genetic deafness [RCV000151671] ChrX:83509407..83509410 [GRCh38]
ChrX:82764415..82764418 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser) single nucleotide variant Deafness, X-linked 2 [RCV000315718]|not provided [RCV000966116]|not specified [RCV000155384] ChrX:83508463 [GRCh38]
ChrX:82763471 [GRCh37]
ChrX:Xq21.1
benign|likely benign
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 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [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
NM_000307.5(POU3F4):c.603_606CAAA[1] (p.Gln203fs) microsatellite Rare genetic deafness [RCV000215388] ChrX:83508927..83508930 [GRCh38]
ChrX:82763935..82763938 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.798G>A (p.Pro266=) single nucleotide variant not specified [RCV000218377] ChrX:83509122 [GRCh38]
ChrX:82764130 [GRCh37]
ChrX:Xq21.1
likely benign
NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter) single nucleotide variant Deafness, X-linked 2 [RCV000225042] ChrX:83508559 [GRCh38]
ChrX:82763567 [GRCh37]
ChrX:Xq21.1
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..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 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: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_000307.5(POU3F4):c.*141T>C single nucleotide variant Deafness, X-linked 2 [RCV000394516] ChrX:83509551 [GRCh38]
ChrX:82764559 [GRCh37]
ChrX:Xq21.1
likely benign|uncertain significance
NM_000307.5(POU3F4):c.753G>A (p.Leu251=) single nucleotide variant Deafness, X-linked 2 [RCV000372706]|not specified [RCV000825816] ChrX:83509077 [GRCh38]
ChrX:82764085 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_000307.5(POU3F4):c.*41C>A single nucleotide variant Deafness, X-linked 2 [RCV000284866] ChrX:83509451 [GRCh38]
ChrX:82764459 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000307.5(POU3F4):c.*192T>C single nucleotide variant Deafness, X-linked 2 [RCV000285941] ChrX:83509602 [GRCh38]
ChrX:82764610 [GRCh37]
ChrX:Xq21.1
likely benign|uncertain significance
NM_000307.5(POU3F4):c.*105C>T single nucleotide variant Deafness, X-linked 2 [RCV000339856] ChrX:83509515 [GRCh38]
ChrX:82764523 [GRCh37]
ChrX:Xq21.1
likely benign
NM_000307.5(POU3F4):c.*227_*231CTTCC[3] microsatellite Nonsyndromic Hearing Loss, X-Linked [RCV000345606] ChrX:83509635..83509639 [GRCh38]
ChrX:82764643..82764647 [GRCh37]
ChrX:Xq21.1
likely benign
NM_000307.5(POU3F4):c.232C>T (p.Gln78Ter) single nucleotide variant not provided [RCV000489450] ChrX:83508556 [GRCh38]
ChrX:82763564 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.283C>T (p.His95Tyr) single nucleotide variant not provided [RCV000523631] ChrX:83508607 [GRCh38]
ChrX:82763615 [GRCh37]
ChrX:Xq21.1
uncertain significance
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
NM_000307.5(POU3F4):c.666_667del (p.Tyr223fs) deletion not provided [RCV001269539] ChrX:83508989..83508990 [GRCh38]
ChrX:82763997..82763998 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.655C>T (p.Leu219=) single nucleotide variant not specified [RCV000603619] ChrX:83508979 [GRCh38]
ChrX:82763987 [GRCh37]
ChrX:Xq21.1
benign
NM_000307.5(POU3F4):c.410del (p.Pro137fs) deletion not provided [RCV000598571] ChrX:83508733 [GRCh38]
ChrX:82763741 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_000307.5(POU3F4):c.588G>C (p.Gln196His) single nucleotide variant not provided [RCV000728747] ChrX:83508912 [GRCh38]
ChrX:82763920 [GRCh37]
ChrX:Xq21.1
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
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu) single nucleotide variant Deafness, X-linked 2 [RCV000454255]|not provided [RCV000595747] ChrX:83509169 [GRCh38]
ChrX:82764177 [GRCh37]
ChrX:Xq21.1
pathogenic|uncertain significance
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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [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 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 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:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-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_000307.5(POU3F4):c.877C>G (p.Leu293Val) single nucleotide variant Deafness, X-linked 2 [RCV000474747] ChrX:83509201 [GRCh38]
ChrX:82764209 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.647G>A (p.Gly216Glu) single nucleotide variant not provided [RCV000480190] ChrX:83508971 [GRCh38]
ChrX:82763979 [GRCh37]
ChrX:Xq21.1
likely pathogenic
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 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
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_000307.5(POU3F4):c.1013C>T (p.Pro338Leu) single nucleotide variant Ependymoma [RCV000577854] ChrX:83509337 [GRCh38]
ChrX:82764345 [GRCh37]
ChrX:Xq21.1
uncertain significance
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_000307.5(POU3F4):c.353C>T (p.Pro118Leu) single nucleotide variant not specified [RCV000614680] ChrX:83508677 [GRCh38]
ChrX:82763685 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000307.5(POU3F4):c.591C>T (p.Phe197=) single nucleotide variant not specified [RCV000599966] ChrX:83508915 [GRCh38]
ChrX:82763923 [GRCh37]
ChrX:Xq21.1
likely benign
NM_000307.5(POU3F4):c.405G>A (p.Ser135=) single nucleotide variant not provided [RCV000513274] ChrX:83508729 [GRCh38]
ChrX:82763737 [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
NM_000307.5(POU3F4):c.478C>T (p.Gln160Ter) single nucleotide variant Autosomal recessive sensorineural hearing loss [RCV000681550] ChrX:83508802 [GRCh38]
ChrX:82763810 [GRCh37]
ChrX:Xq21.1
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
NM_000307.5(POU3F4):c.249dup (p.Gly84fs) duplication Deafness, X-linked 2 [RCV000678987] ChrX:83508570..83508571 [GRCh38]
ChrX:82763578..82763579 [GRCh37]
ChrX:Xq21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000307.5(POU3F4):c.708_710= (p.Glu236_Ala237=) variation Deafness, X-linked 2 [RCV001000972] ChrX:83509032..83509034 [GRCh38]
ChrX:82764040..82764042 [GRCh37]
ChrX:Xq21.1
benign
NM_000307.5(POU3F4):c.24C>T (p.Pro8=) single nucleotide variant Deafness, X-linked 2 [RCV001002391] ChrX:83508348 [GRCh38]
ChrX:82763356 [GRCh37]
ChrX:Xq21.1
likely benign
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter) single nucleotide variant Deafness, X-linked 2 [RCV000735984] ChrX:83509299 [GRCh38]
ChrX:82764307 [GRCh37]
ChrX:Xq21.1
pathogenic
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_000307.5(POU3F4):c.540C>T (p.Cys180=) single nucleotide variant not provided [RCV000936452] ChrX:83508864 [GRCh38]
ChrX:82763872 [GRCh37]
ChrX:Xq21.1
likely benign
NM_000307.5(POU3F4):c.385C>T (p.Gln129Ter) single nucleotide variant not provided [RCV000760932] ChrX:83508709 [GRCh38]
ChrX:82763717 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_000307.5(POU3F4):c.563C>T (p.Thr188Met) single nucleotide variant not provided [RCV000923381] ChrX:83508887 [GRCh38]
ChrX:82763895 [GRCh37]
ChrX:Xq21.1
likely benign
NC_000023.10:g.(?_82763333)_(86890775_?)del deletion not provided [RCV001033944] ChrX:82763333..86890775 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
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_000307.5(POU3F4):c.170G>A (p.Trp57Ter) single nucleotide variant Deafness, X-linked 2 [RCV000770854] ChrX:83508494 [GRCh38]
ChrX:82763502 [GRCh37]
ChrX:Xq21.1
pathogenic
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_000307.5(POU3F4):c.585A>G (p.Glu195=) single nucleotide variant Deafness, X-linked 2 [RCV001166662] ChrX:83508909 [GRCh38]
ChrX:82763917 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu) single nucleotide variant Deafness, X-linked 2 [RCV001166661] ChrX:83508854 [GRCh38]
ChrX:82763862 [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
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
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
NM_000307.5(POU3F4):c.59C>A (p.Ala20Glu) single nucleotide variant not specified [RCV001195260] ChrX:83508383 [GRCh38]
ChrX:82763391 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000307.5(POU3F4):c.*22C>G single nucleotide variant Deafness, X-linked 2 [RCV001168398] ChrX:83509432 [GRCh38]
ChrX:82764440 [GRCh37]
ChrX:Xq21.1
benign
NM_000307.5(POU3F4):c.*297T>C single nucleotide variant Deafness, X-linked 2 [RCV001169151] ChrX:83509707 [GRCh38]
ChrX:82764715 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000307.5(POU3F4):c.285T>C (p.His95=) single nucleotide variant not specified [RCV001195205] ChrX:83508609 [GRCh38]
ChrX:82763617 [GRCh37]
ChrX:Xq21.1
likely benign
NC_000023.10:g.(?_82763333)_(86924394_?)del deletion not provided [RCV001033898] ChrX:82763333..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe) single nucleotide variant Deafness, X-linked 2 [RCV001166660] ChrX:83508715 [GRCh38]
ChrX:82763723 [GRCh37]
ChrX:Xq21.1
uncertain significance
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:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
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
NM_000307.5(POU3F4):c.530C>A (p.Ser177Ter) single nucleotide variant not provided [RCV001269627] ChrX:83508854 [GRCh38]
ChrX:82763862 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000307.5(POU3F4):c.704del (p.Phe235fs) deletion not provided [RCV001269665] ChrX:83509027 [GRCh38]
ChrX:82764035 [GRCh37]
ChrX:Xq21.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9217 AgrOrtholog
COSMIC POU3F4 COSMIC
Ensembl Genes ENSG00000196767 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein ENSP00000495996 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000644024 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 1.10.260.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196767 GTEx
HGNC ID HGNC:9217 ENTREZGENE
Human Proteome Map POU3F4 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lambda_DNA-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POU_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_POU_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5456 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5456 ENTREZGENE
OMIM 300039 OMIM
  304400 OMIM
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pou UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33541 PharmGKB
PIRSF Transcription_factor_POU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS POUDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POU_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POU_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POU_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47413 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y739_HUMAN UniProtKB/TrEMBL
  P49335 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RC71 UniProtKB/Swiss-Prot
  Q5H9G9 UniProtKB/Swiss-Prot
  Q99410 UniProtKB/Swiss-Prot