KDM6A (lysine demethylase 6A) - Rat Genome Database

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Gene: KDM6A (lysine demethylase 6A) Homo sapiens
Analyze
Symbol: KDM6A
Name: lysine demethylase 6A
RGD ID: 1354488
HGNC Page HGNC
Description: Predicted to have RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; chromatin DNA binding activity; and histone demethylase activity (H3-K27 specific). Predicted to be involved in several processes, including animal organ development; chromatin organization; and neural tube development. Localizes to MLL3/4 complex. Implicated in Kabuki syndrome; acute lymphoblastic leukemia; and esophagus squamous cell carcinoma. Biomarker of breast cancer; prostate cancer; and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: [histone H3]-trimethyl-L-lysine(27) demethylase 6A; bA386N14.2; bA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX)); DKFZp686A03225; histone demethylase UTX; KABUK2; lysine (K)-specific demethylase 6A; lysine-specific demethylase 6A; MGC141941; ubiquitously transcribed tetratricopeptide repeat protein X-linked; ubiquitously transcribed TPR protein on the X chromosome; ubiquitously transcribed X chromosome tetratricopeptide repeat protein; ubiquitously-transcribed TPR gene on the X chromosome; ubiquitously-transcribed TPR protein on the X chromosome; ubiquitously-transcribed X chromosome tetratricopeptide repeat protein; UTX
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 EnsemblX44,873,188 - 45,112,779 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX44,873,177 - 45,112,779 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX44,873,177 - 45,112,602 (+)EnsemblGRCh38hg38GRCh38
GRCh38X44,873,182 - 45,112,779 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X44,732,434 - 44,972,024 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X44,617,725 - 44,856,791 (+)NCBINCBI36hg18NCBI36
Build 34X44,489,034 - 44,728,097NCBI
CeleraX48,869,187 - 49,108,532 (+)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX42,453,849 - 42,692,064 (+)NCBIHuRef
CHM1_1X44,765,275 - 45,004,750 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiac septum morphology  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Anal atresia  (IAGP)
Anal stenosis  (IAGP)
Anoperineal fistula  (IAGP)
Areolar fullness  (IAGP)
Atrial septal defect  (IAGP)
Atrioventricular canal defect  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Behavioral abnormality  (IAGP)
Blue sclerae  (IAGP)
Brachydactyly  (IAGP)
Broad nasal tip  (IAGP)
Butterfly vertebrae  (IAGP)
Cafe-au-lait spot  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cleft palate  (IAGP)
Coarctation of aorta  (IAGP)
Coloboma  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital hypothyroidism  (IAGP)
Crossed fused renal ectopia  (IAGP)
Cryptorchidism  (IAGP)
Cupped ear  (IAGP)
Decreased body weight  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal tip  (IAGP)
Duplicated collecting system  (IAGP)
EEG abnormality  (IAGP)
Epicanthus  (IAGP)
Eversion of lateral third of lower eyelids  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hemivertebrae  (IAGP)
Hemolytic anemia  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dislocation  (IAGP)
Hirsutism  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of penis  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hyperflexibility  (IAGP)
Joint hypermobility  (IAGP)
Joint laxity  (IAGP)
Lip pit  (IAGP)
Long eyelashes  (IAGP)
Long palpebral fissure  (IAGP)
Low-set ears  (IAGP)
Lower lip pit  (IAGP)
Macrotia  (IAGP)
Malabsorption  (IAGP)
Mask-like facies  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Natal tooth  (IAGP)
Neonatal hypoglycemia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Preauricular pit  (IAGP)
Preauricular skin tag  (IAGP)
Precocious puberty  (IAGP)
Premature thelarche  (IAGP)
Prominent eyelashes  (IAGP)
Prominent fingertip pads  (IAGP)
Prostate cancer  (IAGP)
Protruding ear  (IAGP)
Ptosis  (IAGP)
Pulmonic stenosis  (IAGP)
Recurrent aspiration pneumonia  (IAGP)
Recurrent infections  (IAGP)
Recurrent otitis media  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short 5th finger  (IAGP)
Short columella  (IAGP)
Short middle phalanx of finger  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Small hand  (IAGP)
Sparse and thin eyebrow  (IAGP)
Sparse lateral eyebrow  (IAGP)
Strabismus  (IAGP)
Ureteropelvic junction obstruction  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Wide nasal bridge  (IAGP)
Widely spaced teeth  (IAGP)
X-linked dominant inheritance  (IAGP)
References

Additional References at PubMed
PMID:9381176   PMID:9499428   PMID:9854018   PMID:10767340   PMID:12477932   PMID:14660691   PMID:15231748   PMID:15302935   PMID:15345747   PMID:15758204   PMID:17178841   PMID:17500065  
PMID:17713478   PMID:17761849   PMID:17825402   PMID:17851529   PMID:17925232   PMID:18003914   PMID:18029348   PMID:19047629   PMID:19330029   PMID:19377476   PMID:20054297   PMID:20123895  
PMID:20301533   PMID:20305087   PMID:20442750   PMID:20516061   PMID:21209387   PMID:21245294   PMID:21515470   PMID:21575637   PMID:21828135   PMID:21841772   PMID:21865393   PMID:21873635  
PMID:21882399   PMID:22002947   PMID:22192413   PMID:22197486   PMID:22199357   PMID:22306297   PMID:22589717   PMID:22722839   PMID:22801502   PMID:22840376   PMID:22907667   PMID:23076834  
PMID:23184418   PMID:23365460   PMID:23527641   PMID:23644518   PMID:23913813   PMID:24078252   PMID:24123378   PMID:24465480   PMID:24491801   PMID:24527667   PMID:24739679   PMID:24981860  
PMID:25071154   PMID:25225064   PMID:25281733   PMID:25320243   PMID:25972376   PMID:26049589   PMID:26138514   PMID:26180087   PMID:26186194   PMID:26303947   PMID:26431949   PMID:26450788  
PMID:26762983   PMID:26819089   PMID:26841933   PMID:26864203   PMID:26898171   PMID:27028180   PMID:27151432   PMID:27302555   PMID:27533081   PMID:27634302   PMID:27671333   PMID:27705803  
PMID:27869828   PMID:27880917   PMID:27926873   PMID:27983522   PMID:28197626   PMID:28228601   PMID:28319113   PMID:28442529   PMID:28514442   PMID:28534508   PMID:28611215   PMID:28794006  
PMID:28968467   PMID:29045832   PMID:29136510   PMID:29171124   PMID:29351209   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29785026   PMID:29846646   PMID:29902804   PMID:29907798  
PMID:29973620   PMID:29987050   PMID:30006524   PMID:30107592   PMID:30166694   PMID:30556125   PMID:30556359   PMID:30718900   PMID:30753822   PMID:30804502   PMID:30872525   PMID:30948420  
PMID:31076518   PMID:31091453   PMID:31097364   PMID:31201358   PMID:31221981   PMID:31285428   PMID:31403472   PMID:31654559   PMID:31685800   PMID:31883305   PMID:31935506   PMID:31959746  
PMID:32071397   PMID:32125007   PMID:32154941   PMID:32269126   PMID:32296183   PMID:32416067   PMID:32427586   PMID:32867456   PMID:32879445   PMID:32989154  


Genomics

Comparative Map Data
KDM6A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX44,873,188 - 45,112,779 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX44,873,177 - 45,112,779 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX44,873,177 - 45,112,602 (+)EnsemblGRCh38hg38GRCh38
GRCh38X44,873,182 - 45,112,779 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X44,732,434 - 44,972,024 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X44,617,725 - 44,856,791 (+)NCBINCBI36hg18NCBI36
Build 34X44,489,034 - 44,728,097NCBI
CeleraX48,869,187 - 49,108,532 (+)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX42,453,849 - 42,692,064 (+)NCBIHuRef
CHM1_1X44,765,275 - 45,004,750 (+)NCBICHM1_1
Kdm6a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X18,027,101 - 18,146,175 (+)NCBIGRCm39mm39
GRCm39 EnsemblX18,028,814 - 18,146,175 (+)Ensembl
GRCm38X18,160,862 - 18,279,936 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX18,162,575 - 18,279,936 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X17,739,793 - 17,856,484 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X17,319,626 - 17,436,317 (+)NCBImm8
CeleraX15,748,215 - 15,864,723 (+)NCBICelera
Cytogenetic MapXA1.2- A1.3NCBI
cM MapX13.45NCBI
Kdm6a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X4,337,466 - 4,477,100 (-)NCBI
Rnor_6.0 EnsemblX4,806,277 - 4,945,944 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X4,805,493 - 4,945,788 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
CeleraX4,851,606 - 4,991,275 (-)NCBICelera
Cytogenetic MapXq11NCBI
Kdm6a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555163,149,948 - 3,346,832 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555163,151,350 - 3,346,832 (-)NCBIChiLan1.0ChiLan1.0
KDM6A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X45,127,382 - 45,362,029 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX45,127,382 - 45,362,029 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X37,313,000 - 37,548,630 (+)NCBIMhudiblu_PPA_v0panPan3
KDM6A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X38,745,854 - 38,964,029 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX38,745,854 - 38,959,842 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX25,972,576 - 26,186,531 (+)NCBI
ROS_Cfam_1.0X38,834,431 - 39,048,434 (+)NCBI
UMICH_Zoey_3.1X38,867,587 - 39,081,494 (+)NCBI
UNSW_CanFamBas_1.0X38,853,967 - 39,068,049 (+)NCBI
UU_Cfam_GSD_1.0X38,946,725 - 39,160,664 (+)NCBI
Kdm6a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X31,139,574 - 31,354,830 (+)NCBI
SpeTri2.0NW_00493650210,980,303 - 11,196,711 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KDM6A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX39,953,759 - 40,154,194 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X39,953,764 - 40,154,197 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X44,504,617 - 44,704,755 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KDM6A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X42,053,272 - 42,291,013 (+)NCBI
ChlSab1.1 EnsemblX42,053,336 - 42,290,526 (+)Ensembl
Kdm6a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248871,065,173 - 1,279,660 (+)NCBI

Position Markers
D13S185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X44,740,686 - 44,740,786UniSTSGRCh37
Build 36X44,625,630 - 44,625,730RGDNCBI36
CeleraX48,877,454 - 48,877,554RGD
Cytogenetic MapXp11.2UniSTS
HuRefX42,462,054 - 42,462,154UniSTS
UTX_8713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X44,970,669 - 44,971,411UniSTSGRCh37
Build 36X44,855,613 - 44,856,355RGDNCBI36
CeleraX49,107,354 - 49,108,096RGD
HuRefX42,690,887 - 42,691,629UniSTS
G34976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X44,922,865 - 44,922,958UniSTSGRCh37
Build 36X44,807,809 - 44,807,902RGDNCBI36
CeleraX49,059,781 - 49,059,874RGD
Cytogenetic MapXp11.2UniSTS
HuRefX42,642,856 - 42,642,949UniSTS
1376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X44,965,823 - 44,965,922UniSTSGRCh37
Build 36X44,850,767 - 44,850,866RGDNCBI36
CeleraX49,102,644 - 49,102,743RGD
Cytogenetic MapXp11.2UniSTS
HuRefX42,685,605 - 42,685,704UniSTS
GeneMap99-GB4 RH MapX115.78UniSTS
NCBI RH MapX153.7UniSTS
RH66464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X44,930,016 - 44,930,199UniSTSGRCh37
Build 36X44,814,960 - 44,815,143RGDNCBI36
CeleraX49,066,938 - 49,067,121RGD
Cytogenetic MapXp11.2UniSTS
HuRefX42,650,012 - 42,650,195UniSTS
GeneMap99-GB4 RH MapX133.3UniSTS
G49474  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2557
Count of miRNA genes:874
Interacting mature miRNAs:1029
Transcripts:ENST00000377967, ENST00000382899, ENST00000414389, ENST00000431196, ENST00000433797, ENST00000451692, ENST00000475233, ENST00000479423, ENST00000484732, ENST00000485072, ENST00000536777, ENST00000543216
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 968 994 904 203 1239 111 2978 410 1107 157 1252 1358 105 544 1791 4
Low 1468 1982 822 420 701 354 1378 1776 2624 262 203 253 69 1 660 997 1 1
Below cutoff 1 12 5 9 3 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_111960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC136488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF000992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF000993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI364446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL041377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY591397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC381812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ062676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ062677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ062678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU026283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU026291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000377967   ⟹   ENSP00000367203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,511 - 45,112,602 (+)Ensembl
RefSeq Acc Id: ENST00000382899   ⟹   ENSP00000372355
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,177 - 45,112,598 (+)Ensembl
RefSeq Acc Id: ENST00000414389   ⟹   ENSP00000405910
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX45,059,346 - 45,112,602 (+)Ensembl
RefSeq Acc Id: ENST00000431196   ⟹   ENSP00000408230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX45,090,817 - 45,111,662 (+)Ensembl
RefSeq Acc Id: ENST00000451692   ⟹   ENSP00000399980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX45,059,282 - 45,063,676 (+)Ensembl
RefSeq Acc Id: ENST00000475233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,715 - 45,020,730 (+)Ensembl
RefSeq Acc Id: ENST00000479423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX45,106,940 - 45,110,249 (+)Ensembl
RefSeq Acc Id: ENST00000484732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX45,082,586 - 45,086,225 (+)Ensembl
RefSeq Acc Id: ENST00000485072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX45,082,398 - 45,083,523 (+)Ensembl
RefSeq Acc Id: ENST00000536777   ⟹   ENSP00000437405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,177 - 45,112,598 (+)Ensembl
RefSeq Acc Id: ENST00000543216   ⟹   ENSP00000443078
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,177 - 45,112,598 (+)Ensembl
RefSeq Acc Id: ENST00000611820   ⟹   ENSP00000483595
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,188 - 45,112,779 (+)Ensembl
RefSeq Acc Id: ENST00000621147   ⟹   ENSP00000478793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,552 - 45,111,411 (+)Ensembl
RefSeq Acc Id: ENST00000674541   ⟹   ENSP00000501919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,188 - 45,112,602 (+)Ensembl
RefSeq Acc Id: ENST00000674564   ⟹   ENSP00000502150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,188 - 45,112,598 (+)Ensembl
RefSeq Acc Id: ENST00000674586   ⟹   ENSP00000502660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,188 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000674659   ⟹   ENSP00000502255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,188 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000674739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,188 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000674867   ⟹   ENSP00000502060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,188 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000675157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,798 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000675182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,879 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000675440
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,397 - 45,080,665 (+)Ensembl
RefSeq Acc Id: ENST00000675514   ⟹   ENSP00000502759
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,188 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000675525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX45,018,066 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000675546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX45,061,528 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000675577   ⟹   ENSP00000501855
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,188 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000675816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,397 - 45,112,325 (+)Ensembl
RefSeq Acc Id: ENST00000676026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX45,078,579 - 45,086,374 (+)Ensembl
RefSeq Acc Id: ENST00000676062   ⟹   ENSP00000502311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,188 - 45,112,325 (+)Ensembl
RefSeq Acc Id: ENST00000676085   ⟹   ENSP00000501752
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,188 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000676133   ⟹   ENSP00000502586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,188 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000676343   ⟹   ENSP00000501761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,188 - 45,112,325 (+)Ensembl
RefSeq Acc Id: ENST00000676389
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,804 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000682127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX45,050,910 - 45,057,016 (+)Ensembl
RefSeq Acc Id: ENST00000682908   ⟹   ENSP00000508158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,552 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000683021   ⟹   ENSP00000507416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,552 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000683425   ⟹   ENSP00000507291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,466 - 45,112,542 (+)Ensembl
RefSeq Acc Id: ENST00000684352   ⟹   ENSP00000508379
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX44,873,552 - 45,112,158 (+)Ensembl
RefSeq Acc Id: NM_001291415   ⟹   NP_001278344
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,188 - 45,112,779 (+)NCBI
CHM1_1X44,765,275 - 45,004,750 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291416   ⟹   NP_001278345
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,188 - 45,112,779 (+)NCBI
CHM1_1X44,765,275 - 45,004,750 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291417   ⟹   NP_001278346
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,188 - 45,112,779 (+)NCBI
CHM1_1X44,765,275 - 45,004,750 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291418   ⟹   NP_001278347
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,188 - 45,112,779 (+)NCBI
CHM1_1X44,765,275 - 45,004,750 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291421   ⟹   NP_001278350
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,188 - 45,112,779 (+)NCBI
CHM1_1X44,765,275 - 45,004,750 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021140   ⟹   NP_066963
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,188 - 45,112,779 (+)NCBI
GRCh37X44,732,419 - 44,972,024 (+)NCBI
Build 36X44,617,725 - 44,856,791 (+)NCBI Archive
HuRefX42,453,849 - 42,692,064 (+)ENTREZGENE
CHM1_1X44,765,275 - 45,004,750 (+)NCBI
Sequence:
RefSeq Acc Id: NR_111960
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,188 - 45,112,779 (+)NCBI
CHM1_1X44,765,275 - 45,004,750 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272656   ⟹   XP_005272713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,182 - 45,112,602 (+)NCBI
GRCh37X44,732,419 - 44,972,024 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272659   ⟹   XP_005272716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,182 - 45,112,602 (+)NCBI
GRCh37X44,732,419 - 44,972,024 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543958   ⟹   XP_011542260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,182 - 45,112,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543963   ⟹   XP_011542265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,182 - 45,112,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543964   ⟹   XP_011542266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,182 - 45,112,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543969   ⟹   XP_011542271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,182 - 45,112,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543970   ⟹   XP_011542272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,182 - 45,112,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543972   ⟹   XP_011542274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,182 - 45,112,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543974   ⟹   XP_011542276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,182 - 45,090,868 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543975   ⟹   XP_011542277
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,974,664 - 45,112,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029783   ⟹   XP_016885272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,182 - 45,112,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029784   ⟹   XP_016885273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,609 - 45,112,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029785   ⟹   XP_016885274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,378 - 45,112,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452438   ⟹   XP_024308206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,182 - 45,112,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452439   ⟹   XP_024308207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,874,041 - 45,112,602 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958804
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,182 - 45,112,602 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001278344 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278345 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278346 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278347 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278350 (Get FASTA)   NCBI Sequence Viewer  
  NP_066963 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272713 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272716 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542260 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542265 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542266 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542271 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542272 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542274 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542276 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542277 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885272 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885273 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885274 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308206 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308207 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC51839 (Get FASTA)   NCBI Sequence Viewer  
  AAC51840 (Get FASTA)   NCBI Sequence Viewer  
  AAH93868 (Get FASTA)   NCBI Sequence Viewer  
  AAI13382 (Get FASTA)   NCBI Sequence Viewer  
  AAI43273 (Get FASTA)   NCBI Sequence Viewer  
  AAI43278 (Get FASTA)   NCBI Sequence Viewer  
  AAI43279 (Get FASTA)   NCBI Sequence Viewer  
  AAT86073 (Get FASTA)   NCBI Sequence Viewer  
  AAZ06655 (Get FASTA)   NCBI Sequence Viewer  
  AAZ06656 (Get FASTA)   NCBI Sequence Viewer  
  AAZ06657 (Get FASTA)   NCBI Sequence Viewer  
  ABV82614 (Get FASTA)   NCBI Sequence Viewer  
  ABV82622 (Get FASTA)   NCBI Sequence Viewer  
  BAD92032 (Get FASTA)   NCBI Sequence Viewer  
  BAG57692 (Get FASTA)   NCBI Sequence Viewer  
  BAG64480 (Get FASTA)   NCBI Sequence Viewer  
  BAG65015 (Get FASTA)   NCBI Sequence Viewer  
  CAD89904 (Get FASTA)   NCBI Sequence Viewer  
  CAE45817 (Get FASTA)   NCBI Sequence Viewer  
  CAH18397 (Get FASTA)   NCBI Sequence Viewer  
  EAW59368 (Get FASTA)   NCBI Sequence Viewer  
  O15550 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_066963   ⟸   NM_021140
- Peptide Label: isoform 3
- UniProtKB: O15550 (UniProtKB/Swiss-Prot),   Q59HG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005272713   ⟸   XM_005272656
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005272716   ⟸   XM_005272659
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: NP_001278344   ⟸   NM_001291415
- Peptide Label: isoform 1
- UniProtKB: B7ZKN5 (UniProtKB/TrEMBL),   B7ZKN6 (UniProtKB/TrEMBL),   Q86TD1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278345   ⟸   NM_001291416
- Peptide Label: isoform 2
- UniProtKB: B7ZKN1 (UniProtKB/TrEMBL),   B7ZKN6 (UniProtKB/TrEMBL),   Q86TD1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278346   ⟸   NM_001291417
- Peptide Label: isoform 4
- UniProtKB: B4E0L8 (UniProtKB/TrEMBL),   B7ZKN6 (UniProtKB/TrEMBL),   Q86TD1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278347   ⟸   NM_001291418
- Peptide Label: isoform 5
- UniProtKB: B7ZKN6 (UniProtKB/TrEMBL),   E1U0S6 (UniProtKB/TrEMBL),   Q59HG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278350   ⟸   NM_001291421
- Peptide Label: isoform 6
- UniProtKB: B7ZKN6 (UniProtKB/TrEMBL),   Q86TD1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542260   ⟸   XM_011543958
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011542266   ⟸   XM_011543964
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011542272   ⟸   XM_011543970
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011542265   ⟸   XM_011543963
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011542271   ⟸   XM_011543969
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011542274   ⟸   XM_011543972
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011542276   ⟸   XM_011543974
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011542277   ⟸   XM_011543975
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016885272   ⟸   XM_017029783
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016885274   ⟸   XM_017029785
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_016885273   ⟸   XM_017029784
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_024308206   ⟸   XM_024452438
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024308207   ⟸   XM_024452439
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: ENSP00000478793   ⟸   ENST00000621147
RefSeq Acc Id: ENSP00000443078   ⟸   ENST00000543216
RefSeq Acc Id: ENSP00000399980   ⟸   ENST00000451692
RefSeq Acc Id: ENSP00000405910   ⟸   ENST00000414389
RefSeq Acc Id: ENSP00000483595   ⟸   ENST00000611820
RefSeq Acc Id: ENSP00000367203   ⟸   ENST00000377967
RefSeq Acc Id: ENSP00000437405   ⟸   ENST00000536777
RefSeq Acc Id: ENSP00000408230   ⟸   ENST00000431196
RefSeq Acc Id: ENSP00000372355   ⟸   ENST00000382899
RefSeq Acc Id: ENSP00000502060   ⟸   ENST00000674867
RefSeq Acc Id: ENSP00000502255   ⟸   ENST00000674659
RefSeq Acc Id: ENSP00000502660   ⟸   ENST00000674586
RefSeq Acc Id: ENSP00000501919   ⟸   ENST00000674541
RefSeq Acc Id: ENSP00000502150   ⟸   ENST00000674564
RefSeq Acc Id: ENSP00000501855   ⟸   ENST00000675577
RefSeq Acc Id: ENSP00000502759   ⟸   ENST00000675514
RefSeq Acc Id: ENSP00000502586   ⟸   ENST00000676133
RefSeq Acc Id: ENSP00000501752   ⟸   ENST00000676085
RefSeq Acc Id: ENSP00000502311   ⟸   ENST00000676062
RefSeq Acc Id: ENSP00000501761   ⟸   ENST00000676343
RefSeq Acc Id: ENSP00000508379   ⟸   ENST00000684352
RefSeq Acc Id: ENSP00000508158   ⟸   ENST00000682908
RefSeq Acc Id: ENSP00000507291   ⟸   ENST00000683425
RefSeq Acc Id: ENSP00000507416   ⟸   ENST00000683021
Protein Domains
JmjC   TPR_REGION

Promoters
RGD ID:6808976
Promoter ID:HG_KWN:66532
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000334516,   OTTHUMT00000056324,   OTTHUMT00000056327
Position:
Human AssemblyChrPosition (strand)Source
Build 36X44,616,496 - 44,618,147 (+)MPROMDB
RGD ID:13605110
Promoter ID:EPDNEW_H28739
Type:initiation region
Name:KDM6A_1
Description:lysine demethylase 6A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28740  EPDNEW_H28741  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,188 - 44,873,248EPDNEW
RGD ID:13605112
Promoter ID:EPDNEW_H28740
Type:initiation region
Name:KDM6A_3
Description:lysine demethylase 6A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28739  EPDNEW_H28741  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,455 - 44,873,515EPDNEW
RGD ID:13605114
Promoter ID:EPDNEW_H28741
Type:initiation region
Name:KDM6A_2
Description:lysine demethylase 6A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28739  EPDNEW_H28740  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X44,873,600 - 44,873,660EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021140.3(KDM6A):c.1214C>T (p.Pro405Leu) single nucleotide variant not provided [RCV000519188] ChrX:45060041 [GRCh38]
ChrX:44919286 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.3332G>C (p.Arg1111Pro) single nucleotide variant not provided [RCV000723269] ChrX:45083507 [GRCh38]
ChrX:44942752 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.1481T>C (p.Met494Thr) single nucleotide variant not provided [RCV000519481] ChrX:45062702 [GRCh38]
ChrX:44921947 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.2254C>T (p.His752Tyr) single nucleotide variant not provided [RCV000518849] ChrX:45069909 [GRCh38]
ChrX:44929154 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.2515_2518del (p.Asn839fs) deletion Kabuki syndrome 2 [RCV000170468] ChrX:45070167..45070170 [GRCh38]
ChrX:44929412..44929415 [GRCh37]
ChrX:Xp11.3
pathogenic
nsv1067838 deletion Kabuki syndrome 2 [RCV000022826] ChrX:45007057..45053473 [GRCh38]
ChrX:44866302..44912718 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.1555C>T (p.Arg519Ter) single nucleotide variant Kabuki syndrome 2 [RCV000033120] ChrX:45063449 [GRCh38]
ChrX:44922694 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.565-745G>T single nucleotide variant Lung cancer [RCV000102617] ChrX:45034186 [GRCh38]
ChrX:44893431 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.3717G>A (p.Trp1239Ter) single nucleotide variant Kabuki syndrome 2 [RCV000033119] ChrX:45089911 [GRCh38]
ChrX:44949156 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.3351_3353TCT[1] (p.Leu1119del) microsatellite Kabuki syndrome 2 [RCV000033121] ChrX:45083526..45083528 [GRCh38]
ChrX:44942771..44942773 [GRCh37]
ChrX:Xp11.3
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 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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
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 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
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 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
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 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
NM_021140.3(KDM6A):c.48_50dup microsatellite Kabuki syndrome 2 [RCV000870869]|not specified [RCV000173515] ChrX:44873590..44873591 [GRCh38]
ChrX:44732836..44732837 [GRCh37]
ChrX:Xp11.3
benign
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_021140.3(KDM6A):c.2743T>C (p.Leu915=) single nucleotide variant Kabuki syndrome 1 [RCV000659685] ChrX:45076737 [GRCh38]
ChrX:44935982 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.3904C>T (p.Gln1302Ter) single nucleotide variant not provided [RCV000657774] ChrX:45107435 [GRCh38]
ChrX:44966680 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.1909_1912del (p.Ser637fs) deletion Kabuki syndrome 2 [RCV000076920] ChrX:45063800..45063803 [GRCh38]
ChrX:44923045..44923048 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.88G>A (p.Ala30Thr) single nucleotide variant Intellectual disability [RCV001252277]|Kabuki syndrome 2 [RCV001089317]|not provided [RCV000224451]|not specified [RCV000121284] ChrX:44873639 [GRCh38]
ChrX:44732885 [GRCh37]
ChrX:Xp11.3
benign|likely benign|not provided
NM_021140.3(KDM6A):c.815A>G (p.Tyr272Cys) single nucleotide variant not provided [RCV001310712]|not specified [RCV000121285] ChrX:45053895 [GRCh38]
ChrX:44913140 [GRCh37]
ChrX:Xp11.3
uncertain significance|not provided
NM_021140.3(KDM6A):c.1843C>G (p.Leu615Val) single nucleotide variant Kabuki syndrome 2 [RCV000878501]|not specified [RCV000121286] ChrX:45063737 [GRCh38]
ChrX:44922982 [GRCh37]
ChrX:Xp11.3
benign|likely benign|not provided
NM_001291415.2(KDM6A):c.2333C>A (p.Thr778Lys) single nucleotide variant not specified [RCV000121287] ChrX:45069832 [GRCh38]
ChrX:44929077 [GRCh37]
ChrX:Xp11.3
benign|not provided
NM_021140.3(KDM6A):c.2732G>C (p.Ser911Thr) single nucleotide variant not specified [RCV000121288] ChrX:45076726 [GRCh38]
ChrX:44935971 [GRCh37]
ChrX:Xp11.3
not provided
NM_021140.3(KDM6A):c.3179A>T (p.His1060Leu) single nucleotide variant not specified [RCV000121289] ChrX:45082610 [GRCh38]
ChrX:44941855 [GRCh37]
ChrX:Xp11.3
benign|not provided
NM_021140.3(KDM6A):c.3949A>T (p.Ile1317Phe) single nucleotide variant not specified [RCV000121290] ChrX:45107480 [GRCh38]
ChrX:44966725 [GRCh37]
ChrX:Xp11.3
not provided
NM_021140.3(KDM6A):c.660A>T (p.Lys220Asn) single nucleotide variant Kabuki syndrome 1 [RCV000659684]|not specified [RCV000121291] ChrX:45051714 [GRCh38]
ChrX:44910959 [GRCh37]
ChrX:Xp11.3
uncertain significance|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
NM_021140.3(KDM6A):c.2703-7_2703-5del deletion not provided [RCV000224512]|not specified [RCV000175359] ChrX:45076680..45076682 [GRCh38]
ChrX:44935925..44935927 [GRCh37]
ChrX:Xp11.3
benign
NM_021140.3(KDM6A):c.3737-6del deletion not specified [RCV000176687] ChrX:45090707 [GRCh38]
ChrX:44949952 [GRCh37]
ChrX:Xp11.3
benign
NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala) single nucleotide variant Kabuki syndrome 2 [RCV001291708] ChrX:44873616 [GRCh38]
ChrX:44732862 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.4034del (p.Thr1345fs) deletion Malignant tumor of prostate [RCV000149280] ChrX:45110107 [GRCh38]
ChrX:44969352 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291421.1(KDM6A):c.-190+9600dup duplication Malignant tumor of prostate [RCV000149281] ChrX:45020616..45020617 [GRCh38]
ChrX:44879861..44879862 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
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)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
NC_000023.10:g.(?_43479884)_(46741003_?)del deletion Kabuki syndrome 2 [RCV000172943] ChrX:43479884..46741003 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
NC_000023.10:g.(?_43479884)_(45501849_?)del deletion Kabuki syndrome 2 [RCV000172944] ChrX:43479884..45501849 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_021140.3(KDM6A):c.752G>A (p.Trp251Ter) single nucleotide variant Kabuki syndrome 2 [RCV000172945] ChrX:45053832 [GRCh38]
ChrX:44913077 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_021140.3(KDM6A):c.3736+2T>C single nucleotide variant Kabuki syndrome 2 [RCV000172946] ChrX:45089932 [GRCh38]
ChrX:44949177 [GRCh37]
ChrX:Xp11.3
likely 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
NM_021140.3(KDM6A):c.3111G>A (p.Gln1037=) single nucleotide variant not specified [RCV000146125] ChrX:45079318 [GRCh38]
ChrX:44938563 [GRCh37]
ChrX:Xp11.3
benign
NM_021140.3(KDM6A):c.4005+14T>C single nucleotide variant not specified [RCV000146126] ChrX:45107550 [GRCh38]
ChrX:44966795 [GRCh37]
ChrX:Xp11.3
benign
NM_021140.3(KDM6A):c.4052G>A (p.Arg1351Gln) single nucleotide variant Kabuki syndrome 2 [RCV000146127]|not provided [RCV000176888] ChrX:45110125 [GRCh38]
ChrX:44969370 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp11.3(chrX:44387905-45242671)x2 copy number gain See cases [RCV000134538] ChrX:44387905..45242671 [GRCh38]
ChrX:44247151..45101916 [GRCh37]
ChrX:44132095..44986860 [NCBI36]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
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 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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
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 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
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 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 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
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 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
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 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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3(chrX:44589099-45143119)x2 copy number gain See cases [RCV000140867] ChrX:44589099..45143119 [GRCh38]
ChrX:44448345..45002364 [GRCh37]
ChrX:44333289..44887308 [NCBI36]
ChrX:Xp11.3
uncertain significance
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 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp11.3-11.23(chrX:44632305-47607180)x2 copy number gain See cases [RCV000143089] ChrX:44632305..47607180 [GRCh38]
ChrX:44491551..47466579 [GRCh37]
ChrX:44376495..47351523 [NCBI36]
ChrX:Xp11.3-11.23
likely 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 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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
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
NM_001291415.1(KDM6A):c.2859-6_2859-5delTT deletion not specified [RCV000153399] ChrX:45076680..45076681 [GRCh38]
ChrX:44935936..44935937 [GRCh37]
ChrX:Xp11.3
likely benign|uncertain significance
NM_021140.3(KDM6A):c.3198A>G (p.Thr1066=) single nucleotide variant not provided [RCV000153400] ChrX:45082629 [GRCh38]
ChrX:44941874 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.384+10C>T single nucleotide variant not provided [RCV000178330] ChrX:44974725 [GRCh38]
ChrX:44833970 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.3678T>C (p.His1226=) single nucleotide variant not provided [RCV000873187]|not specified [RCV000176584] ChrX:45089872 [GRCh38]
ChrX:44949117 [GRCh37]
ChrX:Xp11.3
benign|likely benign|conflicting interpretations of pathogenicity
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
NM_021140.3(KDM6A):c.3835C>T (p.Arg1279Ter) single nucleotide variant Kabuki syndrome 2 [RCV000197668] ChrX:45090821 [GRCh38]
ChrX:44950066 [GRCh37]
ChrX:Xp11.3
pathogenic|likely pathogenic
NM_021140.3(KDM6A):c.3635A>G (p.Gln1212Arg) single nucleotide variant Kabuki syndrome 2 [RCV000193227]|not provided [RCV000493253] ChrX:45089829 [GRCh38]
ChrX:44949074 [GRCh37]
ChrX:Xp11.3
pathogenic|likely pathogenic
NM_021140.3(KDM6A):c.1543del (p.Val515fs) deletion Kabuki syndrome 2 [RCV000193284] ChrX:45063437 [GRCh38]
ChrX:44922682 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.2232C>T (p.Val744=) single nucleotide variant not specified [RCV000194133] ChrX:45069887 [GRCh38]
ChrX:44929132 [GRCh37]
ChrX:Xp11.3
benign
NM_021140.3(KDM6A):c.2832+2dup duplication Kabuki syndrome 2 [RCV000194978] ChrX:45076827..45076828 [GRCh38]
ChrX:44936072..44936073 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_021140.3(KDM6A):c.3714T>C (p.Ala1238=) single nucleotide variant Kabuki syndrome 2 [RCV000548713] ChrX:45089908 [GRCh38]
ChrX:44949153 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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_021140.3(KDM6A):c.2326_2329del (p.Asp776fs) deletion Kabuki syndrome 2 [RCV001224758]|not provided [RCV000255416] ChrX:45069979..45069982 [GRCh38]
ChrX:44929224..44929227 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.250A>G (p.Ile84Val) single nucleotide variant CHARGE association [RCV001034584]|Kabuki syndrome 2 [RCV000578167] ChrX:44961308 [GRCh38]
ChrX:44820553 [GRCh37]
ChrX:Xp11.3
likely pathogenic|uncertain significance
NM_001291415.1(KDM6A):c.2859-17_2859-15delTTT deletion not provided [RCV000224512] ChrX:45076680..45076682 [GRCh38]
ChrX:44935925..44935927 [GRCh37]
ChrX:Xp11.3
benign
NM_021140.3(KDM6A):c.3769G>T (p.Glu1257Ter) single nucleotide variant Kabuki syndrome 2 [RCV000677732] ChrX:45090755 [GRCh38]
ChrX:44950000 [GRCh37]
ChrX:Xp11.3
likely 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: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
NM_001291421.1(KDM6A):c.-571del deletion Kabuki syndrome 1 [RCV000659683] ChrX:44873613 [GRCh38]
ChrX:44732859 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_021140.3(KDM6A):c.398T>G (p.Leu133Ter) single nucleotide variant not provided [RCV000578999] ChrX:45010974 [GRCh38]
ChrX:44870219 [GRCh37]
ChrX:Xp11.3
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 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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [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
NM_021140.3(KDM6A):c.624A>G (p.Gln208=) single nucleotide variant not specified [RCV000246835] ChrX:45037659 [GRCh38]
ChrX:44896904 [GRCh37]
ChrX:Xp11.3
likely benign
NM_021140.3(KDM6A):c.1741A>G (p.Thr581Ala) single nucleotide variant Kabuki syndrome 2 [RCV000870870]|not specified [RCV000249639] ChrX:45063635 [GRCh38]
ChrX:44922880 [GRCh37]
ChrX:Xp11.3
benign
NM_021140.3(KDM6A):c.1527+3G>A single nucleotide variant Kabuki syndrome 2 [RCV000872898]|not specified [RCV000245100] ChrX:45062751 [GRCh38]
ChrX:44921996 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021140.3(KDM6A):c.2056C>T (p.Pro686Ser) single nucleotide variant not provided [RCV000377102] ChrX:45069711 [GRCh38]
ChrX:44928956 [GRCh37]
ChrX:Xp11.3
conflicting interpretations of pathogenicity|uncertain significance
NM_021140.3(KDM6A):c.2150dup (p.Ser718fs) duplication not provided [RCV000306917] ChrX:45069804..45069805 [GRCh38]
ChrX:44929049..44929050 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.1(KDM6A):c.2859-5delT deletion not specified [RCV000348764] ChrX:45076680 [GRCh38]
ChrX:44935937 [GRCh37]
ChrX:Xp11.3
benign
NM_021140.3(KDM6A):c.2830dup (p.Tyr944fs) duplication not provided [RCV000338561] ChrX:45076821..45076822 [GRCh38]
ChrX:44936066..44936067 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291421.1(KDM6A):c.-482G>T single nucleotide variant not provided [RCV000338872] ChrX:44873702 [GRCh38]
ChrX:44732948 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.1751C>T (p.Thr584Met) single nucleotide variant Kabuki syndrome 2 [RCV000613367]|not provided [RCV000515056]|not specified [RCV000319879] ChrX:45063645 [GRCh38]
ChrX:44922890 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_021140.3(KDM6A):c.4005+5_4005+8del microsatellite not provided [RCV000374180] ChrX:45107535..45107538 [GRCh38]
ChrX:44966780..44966783 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.749-2A>G single nucleotide variant Kabuki syndrome 2 [RCV001270443] ChrX:45053827 [GRCh38]
ChrX:44913072 [GRCh37]
ChrX:Xp11.3
pathogenic
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_021140.3(KDM6A):c.1521A>C (p.Gln507His) single nucleotide variant Inborn genetic diseases [RCV000623895]|Kabuki syndrome 2 [RCV001197576] ChrX:45062742 [GRCh38]
ChrX:44921987 [GRCh37]
ChrX:Xp11.3
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_021140.3(KDM6A):c.3185_3188del (p.Asp1062fs) deletion not provided [RCV000599608] ChrX:45082614..45082617 [GRCh38]
ChrX:44941859..44941862 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.2101_2102TC[4] (p.His702fs) microsatellite Kabuki syndrome 2 [RCV000528053] ChrX:45069754..45069755 [GRCh38]
ChrX:44928999..44929000 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.2200A>G (p.Thr734Ala) single nucleotide variant not provided [RCV000414324] ChrX:45069855 [GRCh38]
ChrX:44929100 [GRCh37]
ChrX:Xp11.3
likely 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 Xp11.3(chrX:44815967-45034073)x3 copy number gain See cases [RCV000449278] ChrX:44815967..45034073 [GRCh37]
ChrX:Xp11.3
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_021140.3(KDM6A):c.3598C>T (p.Leu1200Phe) single nucleotide variant Kabuki syndrome 2 [RCV000449529] ChrX:45089792 [GRCh38]
ChrX:44949037 [GRCh37]
ChrX:Xp11.3
likely 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 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
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 Xp11.3(chrX:44864810-45258231)x2 copy number gain See cases [RCV000447223] ChrX:44864810..45258231 [GRCh37]
ChrX:Xp11.3
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 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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021140.3(KDM6A):c.1865C>A (p.Thr622Lys) single nucleotide variant not provided [RCV000425582] ChrX:45063759 [GRCh38]
ChrX:44923004 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.2177C>T (p.Thr726Met) single nucleotide variant Kabuki syndrome 2 [RCV000877685]|not specified [RCV000437454] ChrX:45069832 [GRCh38]
ChrX:44929077 [GRCh37]
ChrX:Xp11.3
benign|likely benign
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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
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 Xp11.4-11.3(chrX:40933552-45379179)x2 copy number gain See cases [RCV000448864] ChrX:40933552..45379179 [GRCh37]
ChrX:Xp11.4-11.3
likely pathogenic
NM_021140.3(KDM6A):c.3679T>C (p.Trp1227Arg) single nucleotide variant not provided [RCV000480795] ChrX:45089873 [GRCh38]
ChrX:44949118 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_021140.3(KDM6A):c.3978_3981del (p.Pro1327fs) deletion not provided [RCV000479526] ChrX:45107508..45107511 [GRCh38]
ChrX:44966753..44966756 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.1329+486G>A single nucleotide variant not provided [RCV000498665] ChrX:45060642 [GRCh38]
ChrX:44919887 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.1(KDM6A):c.2988+1G>C single nucleotide variant Kabuki syndrome 2 [RCV000496172] ChrX:45076827 [GRCh38]
ChrX:44936072 [GRCh37]
ChrX:Xp11.3
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 Xp11.3(chrX:44815967-45034034)x2 copy number gain See cases [RCV000510299] ChrX:44815967..45034034 [GRCh37]
ChrX:Xp11.3
uncertain significance
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 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_021140.3(KDM6A):c.748+1G>A single nucleotide variant not provided [RCV000494003] ChrX:45051803 [GRCh38]
ChrX:44911048 [GRCh37]
ChrX:Xp11.3
likely 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 Xp11.4-11.23(chrX:41150139-46528262)x1 copy number loss See cases [RCV000511364] ChrX:41150139..46528262 [GRCh37]
ChrX:Xp11.4-11.23
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 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_021140.3(KDM6A):c.2075_2076del (p.Gln692fs) deletion Inborn genetic diseases [RCV000622459] ChrX:45069730..45069731 [GRCh38]
ChrX:44928975..44928976 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.3016C>T (p.Gln1006Ter) single nucleotide variant Kabuki syndrome 2 [RCV000540641] ChrX:45079223 [GRCh38]
ChrX:44938468 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.1015C>T (p.Gln339Ter) single nucleotide variant Inborn genetic diseases [RCV000624635] ChrX:45059287 [GRCh38]
ChrX:44918532 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.3458G>A (p.Cys1153Tyr) single nucleotide variant Kabuki syndrome 2 [RCV000690858]|not provided [RCV000656306] ChrX:45085889 [GRCh38]
ChrX:44945134 [GRCh37]
ChrX:Xp11.3
pathogenic|likely pathogenic|uncertain significance
NM_021140.3(KDM6A):c.2832+1G>A single nucleotide variant Kabuki syndrome 2 [RCV000687466]|not provided [RCV000656284] ChrX:45076827 [GRCh38]
ChrX:44936072 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.3797C>A (p.Ser1266Ter) single nucleotide variant not provided [RCV000627275] ChrX:45090783 [GRCh38]
ChrX:44950028 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp11.3(chrX:44815967-45034073)x3 copy number gain See cases [RCV000512213] ChrX:44815967..45034073 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_021140.3(KDM6A):c.1960C>T (p.Pro654Ser) single nucleotide variant Inborn genetic diseases [RCV000623282] ChrX:45069615 [GRCh38]
ChrX:44928860 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001291421.1(KDM6A):c.-558_-543dup duplication not provided [RCV000627573] ChrX:44873625..44873626 [GRCh38]
ChrX:44732871..44732872 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_021140.3(KDM6A):c.2462_2463del (p.Ser821fs) deletion Kabuki syndrome 2 [RCV000649035] ChrX:45070117..45070118 [GRCh38]
ChrX:44929362..44929363 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_021140.3(KDM6A):c.2678C>T (p.Ser893Leu) single nucleotide variant not provided [RCV000658221] ChrX:45070333 [GRCh38]
ChrX:44929578 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.563A>G (p.Lys188Arg) single nucleotide variant Kabuki syndrome 2 [RCV000680020] ChrX:45020729 [GRCh38]
ChrX:44879974 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.1392_1395TCAT[3] (p.Trp467fs) microsatellite Kabuki syndrome 2 [RCV000677411] ChrX:45061385..45061386 [GRCh38]
ChrX:44920630..44920631 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp11.3(chrX:44377449-45147237)x3 copy number gain not provided [RCV000684324] ChrX:44377449..45147237 [GRCh37]
ChrX:Xp11.3
uncertain significance
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 Xp11.3(chrX:44773319-44909637)x1 copy number loss not provided [RCV000684325] ChrX:44773319..44909637 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp11.3(chrX:44815967-45028722)x2 copy number gain not provided [RCV000684326] ChrX:44815967..45028722 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.2938+2T>C single nucleotide variant Kabuki syndrome 2 [RCV000706419] ChrX:45078507 [GRCh38]
ChrX:44937752 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_021140.3(KDM6A):c.3763C>T (p.Arg1255Trp) single nucleotide variant Kabuki syndrome 2 [RCV000685508] ChrX:45090749 [GRCh38]
ChrX:44949994 [GRCh37]
ChrX:Xp11.3
pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
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 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:60262-155245765)x3 copy number gain not provided [RCV000753272] 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
NC_000023.11:g.(?_44209146)_(46109507_?)del deletion Autistic disorder of childhood onset [RCV000754372] ChrX:44209146..46109507 [GRCh38]
ChrX:Xp11.3
likely 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
NM_001291415.2(KDM6A):c.1558T>C (p.Cys520Arg) single nucleotide variant Kabuki syndrome 2 [RCV000871783] ChrX:45061396 [GRCh38]
ChrX:44920641 [GRCh37]
ChrX:Xp11.3
benign
NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter) single nucleotide variant Kabuki syndrome 2 [RCV000853276] ChrX:45020659 [GRCh38]
ChrX:44879904 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.3198del (p.Thr1067fs) deletion Kabuki syndrome 2 [RCV000853352] ChrX:45079247 [GRCh38]
ChrX:44938492 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.1862A>G (p.Asn621Ser) single nucleotide variant not provided [RCV000941146] ChrX:45063600 [GRCh38]
ChrX:44922845 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001291415.2(KDM6A):c.4101A>G (p.Lys1367=) single nucleotide variant not provided [RCV000872667] ChrX:45107476 [GRCh38]
ChrX:44966721 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001291415.2(KDM6A):c.3893-6T>C single nucleotide variant not provided [RCV000938327] ChrX:45090717 [GRCh38]
ChrX:44949962 [GRCh37]
ChrX:Xp11.3
likely benign
NM_021140.3(KDM6A):c.1972C>T (p.Arg658Ter) single nucleotide variant not provided [RCV000760811] ChrX:45069627 [GRCh38]
ChrX:44928872 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.4101dup (p.Glu1368fs) duplication Kabuki syndrome 2 [RCV000760202] ChrX:45107472..45107473 [GRCh38]
ChrX:44966717..44966718 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_001291421.1(KDM6A):c.-398T>C single nucleotide variant not provided [RCV000762627] ChrX:44961293 [GRCh38]
ChrX:44820538 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291421.1(KDM6A):c.-311G>A single nucleotide variant not provided [RCV000762628] ChrX:44961380 [GRCh38]
ChrX:44820625 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.1984T>C (p.Ser662Pro) single nucleotide variant not provided [RCV000762629] ChrX:45069639 [GRCh38]
ChrX:44928884 [GRCh37]
ChrX:Xp11.3
uncertain significance
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_001291415.2(KDM6A):c.1284C>T (p.Pro428=) single nucleotide variant not provided [RCV000884922] ChrX:45060111 [GRCh38]
ChrX:44919356 [GRCh37]
ChrX:Xp11.3
benign
NM_001291415.2(KDM6A):c.2430T>C (p.Ala810=) single nucleotide variant not provided [RCV000950032] ChrX:45069929 [GRCh38]
ChrX:44929174 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001291415.2(KDM6A):c.3162A>G (p.Thr1054=) single nucleotide variant not provided [RCV000902926] ChrX:45079213 [GRCh38]
ChrX:44938458 [GRCh37]
ChrX:Xp11.3
benign
NM_001291415.2(KDM6A):c.1832G>A (p.Arg611His) single nucleotide variant not provided [RCV000946375] ChrX:45063570 [GRCh38]
ChrX:44922815 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001291415.2(KDM6A):c.444-7C>T single nucleotide variant not provided [RCV000898664] ChrX:45020603 [GRCh38]
ChrX:44879848 [GRCh37]
ChrX:Xp11.3
benign
NM_001291415.2(KDM6A):c.3405G>A (p.Lys1135=) single nucleotide variant not provided [RCV000943279] ChrX:45082754 [GRCh38]
ChrX:44941999 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001291415.2(KDM6A):c.2859-5T>C single nucleotide variant Kabuki syndrome 2 [RCV000878517] ChrX:45076692 [GRCh38]
ChrX:44935937 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
NM_021140.3(KDM6A):c.2646_2647dup (p.Pro883fs) duplication Kabuki syndrome 2 [RCV000789043] ChrX:45070300..45070301 [GRCh38]
ChrX:44929545..44929546 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.1(KDM6A):c.1683+1G>A single nucleotide variant not provided [RCV000782089] ChrX:45062749 [GRCh38]
ChrX:44921994 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.2473A>G (p.Thr825Ala) single nucleotide variant Kabuki syndrome 2 [RCV000793290] ChrX:45070128 [GRCh38]
ChrX:44929373 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.1902A>G (p.Ser634=) single nucleotide variant not provided [RCV000932996] ChrX:45063640 [GRCh38]
ChrX:44922885 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001291415.2(KDM6A):c.388G>A (p.Ala130Thr) single nucleotide variant not provided [RCV000930920] ChrX:45010964 [GRCh38]
ChrX:44870209 [GRCh37]
ChrX:Xp11.3
likely benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_021140.3(KDM6A):c.3144+1G>A single nucleotide variant Kabuki syndrome 2 [RCV000821618] ChrX:45079352 [GRCh38]
ChrX:44938597 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_021140.3(KDM6A):c.3584C>T (p.Pro1195Leu) single nucleotide variant Kabuki syndrome 2 [RCV000803634] ChrX:45089778 [GRCh38]
ChrX:44949023 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_021140.3(KDM6A):c.3457T>C (p.Cys1153Arg) single nucleotide variant Kabuki syndrome 2 [RCV000815523] ChrX:45085888 [GRCh38]
ChrX:44945133 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp11.3(chrX:44943127-45159770)x2 copy number gain not provided [RCV000849579] ChrX:44943127..45159770 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp11.3(chrX:44687226-45154972)x3 copy number gain not provided [RCV000848538] ChrX:44687226..45154972 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.4051C>T (p.Arg1351Ter) single nucleotide variant Kabuki syndrome 2 [RCV000798575] ChrX:45110124 [GRCh38]
ChrX:44969369 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.2079+1G>T single nucleotide variant not provided [RCV001091008] ChrX:45063818 [GRCh38]
ChrX:44923063 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.1106A>G (p.Gln369Arg) single nucleotide variant not provided [RCV001091007] ChrX:45059378 [GRCh38]
ChrX:44918623 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_021140.3(KDM6A):c.4161T>A (p.Tyr1387Ter) single nucleotide variant Kabuki syndrome 2 [RCV000850404] ChrX:45110234 [GRCh38]
ChrX:44969479 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_021140.3(KDM6A):c.1425+1G>T single nucleotide variant Kabuki syndrome 2 [RCV000810693] ChrX:45061420 [GRCh38]
ChrX:44920665 [GRCh37]
ChrX:Xp11.3
likely pathogenic
Single allele deletion Skeletal dysplasia [RCV000787472] ChrX:44207077..45518941 [GRCh37]
ChrX:Xp11.3
pathogenic
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 Xp11.3(chrX:44809611-45034021)x2 copy number gain not provided [RCV000849407] ChrX:44809611..45034021 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.2067_2074del (p.Asn690fs) deletion not provided [RCV001009025] ChrX:45063805..45063812 [GRCh38]
ChrX:44923050..44923057 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg) single nucleotide variant Kabuki syndrome 2 [RCV001001931] ChrX:45110172 [GRCh38]
ChrX:44969417 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001291415.2(KDM6A):c.3811T>C (p.Trp1271Arg) single nucleotide variant Kabuki Syndrome - KDM6A [RCV001249759] ChrX:45089849 [GRCh38]
ChrX:44949094 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_001291415.2(KDM6A):c.3301-2A>G single nucleotide variant Kabuki syndrome 2 [RCV001238223] ChrX:45082574 [GRCh38]
ChrX:44941819 [GRCh37]
ChrX:Xp11.3
likely 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
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 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_001291415.2(KDM6A):c.24C>T (p.Leu8=) single nucleotide variant not provided [RCV001200321] ChrX:44873575 [GRCh38]
ChrX:44732821 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001291415.2(KDM6A):c.894G>A (p.Gly298=) single nucleotide variant not provided [RCV000886506] ChrX:45059024 [GRCh38]
ChrX:44918269 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001291415.2(KDM6A):c.2970A>G (p.Pro990=) single nucleotide variant Kabuki syndrome 2 [RCV000952197] ChrX:45076808 [GRCh38]
ChrX:44936053 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001291415.2(KDM6A):c.1812C>T (p.Ser604=) single nucleotide variant not provided [RCV000944981] ChrX:45063550 [GRCh38]
ChrX:44922795 [GRCh37]
ChrX:Xp11.3
benign
NM_001291415.2(KDM6A):c.4254C>T (p.Ser1418=) single nucleotide variant Kabuki syndrome 2 [RCV000959502] ChrX:45110171 [GRCh38]
ChrX:44969416 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001291415.2(KDM6A):c.1329+7A>G single nucleotide variant not provided [RCV000929519] ChrX:45060163 [GRCh38]
ChrX:44919408 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001291415.2(KDM6A):c.2608del (p.Ser870fs) deletion Kabuki syndrome 2 [RCV001068302] ChrX:45070106 [GRCh38]
ChrX:44929351 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.3301G>A (p.Glu1101Lys) single nucleotide variant Kabuki syndrome 2 [RCV001090189] ChrX:45082576 [GRCh38]
ChrX:44941821 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp11.3(chrX:44931762-45166819)x3 copy number gain not provided [RCV001007298] ChrX:44931762..45166819 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.3910G>T (p.Ala1304Ser) single nucleotide variant Kabuki syndrome 2 [RCV001234499] ChrX:45090740 [GRCh38]
ChrX:44949985 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.3626dup (p.Asn1210fs) duplication not provided [RCV001008376] ChrX:45085900..45085901 [GRCh38]
ChrX:44945145..44945146 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe) single nucleotide variant Kabuki syndrome 2 [RCV001000625] ChrX:45063612 [GRCh38]
ChrX:44922857 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001291415.2(KDM6A):c.4135C>G (p.Pro1379Ala) single nucleotide variant Intellectual disability [RCV001252276] ChrX:45107510 [GRCh38]
ChrX:44966755 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001291415.2(KDM6A):c.908C>A (p.Ala303Asp) single nucleotide variant Kabuki syndrome 2 [RCV001254086] ChrX:45059038 [GRCh38]
ChrX:44918283 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_001291415.2(KDM6A):c.2519C>G (p.Ala840Gly) single nucleotide variant Kabuki syndrome 2 [RCV001252278] ChrX:45070018 [GRCh38]
ChrX:44929263 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_001291415.2(KDM6A):c.140A>G (p.Glu47Gly) single nucleotide variant Kabuki syndrome 2 [RCV001254085] ChrX:44873691 [GRCh38]
ChrX:44732937 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.1192C>T (p.Gln398Ter) single nucleotide variant Kabuki syndrome 2 [RCV001265643] ChrX:45059464 [GRCh38]
ChrX:44918709 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.3409G>A (p.Gly1137Arg) single nucleotide variant Kabuki syndrome 2 [RCV001258336] ChrX:45082758 [GRCh38]
ChrX:44942003 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_001291415.2(KDM6A):c.564+1G>T single nucleotide variant Kabuki syndrome 2 [RCV001261240] ChrX:45020731 [GRCh38]
ChrX:44879976 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.4232A>G (p.Gln1411Arg) single nucleotide variant Intellectual disability [RCV001257752] ChrX:45110149 [GRCh38]
ChrX:44969394 [GRCh37]
ChrX:Xp11.3
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001291415.2(KDM6A):c.2002_2005del (p.Thr668fs) microsatellite Kabuki syndrome 2 [RCV001261233] ChrX:45063735..45063738 [GRCh38]
ChrX:44922980..44922983 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.443+5G>C single nucleotide variant Kabuki syndrome 2 [RCV001261238] ChrX:45011024 [GRCh38]
ChrX:44870269 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.1265C>T (p.Ala422Val) single nucleotide variant Intellectual disability [RCV001257585] ChrX:45060092 [GRCh38]
ChrX:44919337 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.1048G>A (p.Gly350Ser) single nucleotide variant Inborn genetic diseases [RCV001266962] ChrX:45059320 [GRCh38]
ChrX:44918565 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.875+1G>A single nucleotide variant Kabuki syndrome 2 [RCV001261232] ChrX:45053956 [GRCh38]
ChrX:44913201 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.3229A>G (p.Ser1077Gly) single nucleotide variant Kabuki syndrome 2 [RCV001261236] ChrX:45079280 [GRCh38]
ChrX:44938525 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_001291415.2(KDM6A):c.3426_3429del (p.Ser1143fs) deletion Kabuki syndrome 2 [RCV001261237] ChrX:45082773..45082776 [GRCh38]
ChrX:44942018..44942021 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.619+6T>C single nucleotide variant Kabuki syndrome 2 [RCV001261241] ChrX:45034991 [GRCh38]
ChrX:44894236 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.2230C>T (p.Gln744Ter) single nucleotide variant Kabuki syndrome 2 [RCV001261234] ChrX:45069729 [GRCh38]
ChrX:44928974 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.3095-1G>T single nucleotide variant Kabuki syndrome 2 [RCV001261235] ChrX:45079145 [GRCh38]
ChrX:44938390 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_001291415.2(KDM6A):c.514C>T (p.Arg172Ter) single nucleotide variant Kabuki syndrome 2 [RCV001261239] ChrX:45020680 [GRCh38]
ChrX:44879925 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.620-2A>G single nucleotide variant Kabuki syndrome 2 [RCV001261278] ChrX:45037653 [GRCh38]
ChrX:44896898 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.3590-2A>G single nucleotide variant Kabuki syndrome 2 [RCV001261279] ChrX:45085863 [GRCh38]
ChrX:44945108 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_001291415.2(KDM6A):c.1579C>T (p.Gln527Ter) single nucleotide variant not provided [RCV001268003] ChrX:45061417 [GRCh38]
ChrX:44920662 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.3058dup (p.Thr1020fs) duplication Kabuki syndrome 2 [RCV001270417] ChrX:45078468..45078469 [GRCh38]
ChrX:44937713..44937714 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_001291415.2(KDM6A):c.2989-2A>G single nucleotide variant Inborn genetic diseases [RCV001266411] ChrX:45078398 [GRCh38]
ChrX:44937643 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter) single nucleotide variant Inborn genetic diseases [RCV001265857] ChrX:45063728 [GRCh38]
ChrX:44922973 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_001291415.2(KDM6A):c.400T>C (p.Tyr134His) single nucleotide variant Kabuki syndrome 2 [RCV001262661] ChrX:45010976 [GRCh38]
ChrX:44870221 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.1474A>T (p.Ser492Cys) single nucleotide variant Kabuki syndrome 2 [RCV001330553] ChrX:45060753 [GRCh38]
ChrX:44919998 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.1918A>G (p.Thr640Ala) single nucleotide variant Kabuki syndrome 2 [RCV001296031] ChrX:45063656 [GRCh38]
ChrX:44922901 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.1711C>G (p.Arg571Gly) single nucleotide variant Kabuki syndrome 2 [RCV001340609] ChrX:45063449 [GRCh38]
ChrX:44922694 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.748+4T>C single nucleotide variant Kabuki syndrome 2 [RCV001324788] ChrX:45051806 [GRCh38]
ChrX:44911051 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.341C>T (p.Ser114Phe) single nucleotide variant Kabuki syndrome 2 [RCV001318303] ChrX:44974672 [GRCh38]
ChrX:44833917 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.1660T>C (p.Phe554Leu) single nucleotide variant Kabuki syndrome 2 [RCV001304541] ChrX:45062725 [GRCh38]
ChrX:44921970 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.343G>A (p.Ala115Thr) single nucleotide variant not specified [RCV001269270] ChrX:44974674 [GRCh38]
ChrX:44833919 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.1219G>A (p.Gly407Ser) single nucleotide variant Kabuki syndrome 2 [RCV001334123] ChrX:45060046 [GRCh38]
ChrX:44919291 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.2069A>G (p.Asn690Ser) single nucleotide variant Kabuki syndrome 2 [RCV001318483] ChrX:45063807 [GRCh38]
ChrX:44923052 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.4100A>G (p.Lys1367Arg) single nucleotide variant Kabuki syndrome 2 [RCV001329844] ChrX:45107475 [GRCh38]
ChrX:44966720 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.1115T>C (p.Ile372Thr) single nucleotide variant Kabuki syndrome 2 [RCV001324838] ChrX:45059387 [GRCh38]
ChrX:44918632 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.3589+5T>C single nucleotide variant Kabuki syndrome 2 [RCV001307742] ChrX:45083613 [GRCh38]
ChrX:44942858 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.2494C>G (p.Leu832Val) single nucleotide variant Kabuki syndrome 2 [RCV001316304] ChrX:45069993 [GRCh38]
ChrX:44929238 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001291415.2(KDM6A):c.4151G>A (p.Ser1384Asn) single nucleotide variant Kabuki syndrome 2 [RCV001339422] ChrX:45107526 [GRCh38]
ChrX:44966771 [GRCh37]
ChrX:Xp11.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12637 AgrOrtholog
COSMIC KDM6A COSMIC
Ensembl Genes ENSG00000147050 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000367203 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000372355 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000405910 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000408230 UniProtKB/TrEMBL
  ENSP00000437405 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000443078 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000478793 UniProtKB/TrEMBL
  ENSP00000483595 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000501752 UniProtKB/TrEMBL
  ENSP00000501761 UniProtKB/TrEMBL
  ENSP00000501855 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000501919 UniProtKB/TrEMBL
  ENSP00000502060 UniProtKB/TrEMBL
  ENSP00000502150 UniProtKB/TrEMBL
  ENSP00000502255 UniProtKB/TrEMBL
  ENSP00000502311 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000502586 UniProtKB/TrEMBL
  ENSP00000502660 UniProtKB/TrEMBL
  ENSP00000502759 UniProtKB/TrEMBL
Ensembl Transcript ENST00000377967 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000382899 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000414389 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000431196 UniProtKB/TrEMBL
  ENST00000536777 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000543216 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000611820 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000621147 UniProtKB/TrEMBL
  ENST00000674541 UniProtKB/TrEMBL
  ENST00000674564 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000674586 UniProtKB/TrEMBL
  ENST00000674659 UniProtKB/TrEMBL
  ENST00000674739 ENTREZGENE
  ENST00000674867 UniProtKB/TrEMBL
  ENST00000675157 ENTREZGENE
  ENST00000675514 UniProtKB/TrEMBL
  ENST00000675577 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000676062 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000676085 UniProtKB/TrEMBL
  ENST00000676133 UniProtKB/TrEMBL
  ENST00000676343 UniProtKB/TrEMBL
  ENST00000676389 ENTREZGENE
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147050 GTEx
HGNC ID HGNC:12637 ENTREZGENE
Human Proteome Map KDM6A Human Proteome Map
InterPro JmjC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7403 ENTREZGENE
OMIM 300128 OMIM
  300867 OMIM
Pfam JmjC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/TrEMBL
  TPR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37262 PharmGKB
PROSITE JMJC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART JmjC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WUN6_HUMAN UniProtKB/TrEMBL
  A0A087X0R0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFD0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFK0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG32_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG92_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGG6_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGN0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH94_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHB6_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHJ0_HUMAN UniProtKB/TrEMBL
  B4E0L8 ENTREZGENE, UniProtKB/TrEMBL
  B7ZKN1 ENTREZGENE, UniProtKB/TrEMBL
  B7ZKN5 ENTREZGENE, UniProtKB/TrEMBL
  B7ZKN6 ENTREZGENE, UniProtKB/TrEMBL
  E1U0S6 ENTREZGENE, UniProtKB/TrEMBL
  F5H5V6_HUMAN UniProtKB/TrEMBL
  F5H6S1_HUMAN UniProtKB/TrEMBL
  F8W8R6_HUMAN UniProtKB/TrEMBL
  H0Y6I7_HUMAN UniProtKB/TrEMBL
  H0Y6V5_HUMAN UniProtKB/TrEMBL
  KDM6A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q59HG3 ENTREZGENE, UniProtKB/TrEMBL
  Q86TD1 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q52LL9 UniProtKB/Swiss-Prot
  Q5JVQ7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 KDM6A  lysine demethylase 6A    lysine (K)-specific demethylase 6A  Symbol and/or name change 5135510 APPROVED