STK26 (serine/threonine kinase 26) - Rat Genome Database

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Gene: STK26 (serine/threonine kinase 26) Homo sapiens
Analyze
Symbol: STK26
Name: serine/threonine kinase 26
RGD ID: 1604356
HGNC Page HGNC
Description: Exhibits several functions, including ATP binding activity; magnesium ion binding activity; and protein homodimerization activity. Involved in several processes, including microvillus assembly; regulation of hydrogen peroxide-induced cell death; and response to hydrogen peroxide. Localizes to several cellular components, including Golgi-associated vesicle; apical plasma membrane; and perinuclear region of cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: mammalian Ste20-like protein kinase 4; mammalian sterile 20-like 4; MASK; MST-4; Mst3 and SOK1-related kinase; MST4; serine/threonine protein kinase 26; serine/threonine protein kinase MASK; serine/threonine protein kinase MST4; serine/threonine-protein kinase 26; serine/threonine-protein kinase MASK; serine/threonine-protein kinase MST4; STE20-like kinase 4; STE20-like kinase MST4
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 EnsemblX132,023,302 - 132,075,943 (+)EnsemblGRCh38hg38GRCh38
GRCh38X132,023,302 - 132,075,943 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X131,157,330 - 131,209,971 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X130,984,926 - 131,037,652 (+)NCBINCBI36hg18NCBI36
CeleraX131,543,656 - 131,596,380 (+)NCBI
Cytogenetic MapXq26.2NCBI
HuRefX120,561,932 - 120,614,415 (+)NCBIHuRef
CHM1_1X131,068,821 - 131,121,548 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:1164178   PMID:11306563   PMID:11316611   PMID:11641781   PMID:11741893   PMID:12477932   PMID:12810671   PMID:14702039   PMID:15037601   PMID:15489334   PMID:15688006   PMID:15772651  
PMID:16344560   PMID:16611982   PMID:17360971   PMID:18782753   PMID:19156129   PMID:19322201   PMID:19386264   PMID:19953087   PMID:20332113   PMID:20360068   PMID:21423148   PMID:21516116  
PMID:21561863   PMID:21832049   PMID:21873635   PMID:22291017   PMID:22750858   PMID:22797597   PMID:22863883   PMID:23455922   PMID:23533145   PMID:23541896   PMID:23602568   PMID:23889253  
PMID:24344204   PMID:24366813   PMID:24374310   PMID:24797263   PMID:24859810   PMID:25416956   PMID:25550858   PMID:25642822   PMID:25650755   PMID:25659891   PMID:25814554   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26638075   PMID:26972000   PMID:27432908   PMID:27684187   PMID:27807006   PMID:28219358   PMID:28330616   PMID:28514442   PMID:29128334   PMID:29232556  
PMID:29509190   PMID:29955894   PMID:30072378   PMID:31073040   PMID:31091453   PMID:31515488   PMID:31539108   PMID:31557882   PMID:31586073   PMID:31950832   PMID:32271880   PMID:32296183  
PMID:32539131  


Genomics

Comparative Map Data
STK26
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX132,023,302 - 132,075,943 (+)EnsemblGRCh38hg38GRCh38
GRCh38X132,023,302 - 132,075,943 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X131,157,330 - 131,209,971 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X130,984,926 - 131,037,652 (+)NCBINCBI36hg18NCBI36
CeleraX131,543,656 - 131,596,380 (+)NCBI
Cytogenetic MapXq26.2NCBI
HuRefX120,561,932 - 120,614,415 (+)NCBIHuRef
CHM1_1X131,068,821 - 131,121,548 (+)NCBICHM1_1
Stk26
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X49,930,052 - 49,981,980 (+)NCBIGRCm39mm39
GRCm39 EnsemblX49,929,924 - 49,981,974 (+)Ensembl
GRCm38X50,841,174 - 50,893,103 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX50,841,047 - 50,893,097 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X48,194,613 - 48,245,033 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X47,086,063 - 47,136,483 (+)NCBImm8
CeleraX38,259,039 - 38,309,780 (+)NCBICelera
Cytogenetic MapXA5NCBI
Stk26
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X130,310,855 - 130,375,677 (+)NCBI
Rnor_6.0 EnsemblX138,046,494 - 138,096,669 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X138,032,356 - 138,096,632 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X138,091,166 - 138,155,429 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X137,577,961 - 137,627,511 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX129,243,275 - 129,292,475 (+)NCBICelera
Cytogenetic MapXq36NCBI
Stk26
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554732,819,585 - 2,878,561 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554732,819,644 - 2,878,561 (-)NCBIChiLan1.0ChiLan1.0
STK26
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X131,462,895 - 131,515,429 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX131,463,187 - 131,515,429 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X121,155,443 - 121,207,906 (+)NCBIMhudiblu_PPA_v0panPan3
STK26
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X102,962,012 - 103,026,278 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX102,961,648 - 103,024,503 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX89,134,974 - 89,199,270 (+)NCBI
ROS_Cfam_1.0X104,849,346 - 104,886,322 (+)NCBI
UMICH_Zoey_3.1X102,232,961 - 102,297,253 (+)NCBI
UNSW_CanFamBas_1.0X104,109,765 - 104,173,599 (+)NCBI
UU_Cfam_GSD_1.0X103,880,672 - 103,944,681 (+)NCBI
Stk26
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X101,130,295 - 101,199,432 (+)NCBI
SpeTri2.0NW_0049366912,757,934 - 2,811,961 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STK26
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX108,165,503 - 108,239,042 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X108,179,230 - 108,237,669 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X124,210,635 - 124,230,967 (-)NCBISscrofa10.2Sscrofa10.2susScr3
STK26
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X107,179,800 - 107,233,336 (+)NCBI
Stk26
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479711,714,548 - 11,768,712 (+)NCBI

Position Markers
AL035152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,170,675 - 131,170,842UniSTSGRCh37
Build 36X130,998,356 - 130,998,523RGDNCBI36
CeleraX131,557,086 - 131,557,253RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,575,365 - 120,575,532UniSTS
AL035147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,201,964 - 131,202,137UniSTSGRCh37
Build 36X131,029,645 - 131,029,818RGDNCBI36
CeleraX131,588,373 - 131,588,546RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,606,400 - 120,606,573UniSTS
RH120536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,172,523 - 131,172,797UniSTSGRCh37
Build 36X131,000,204 - 131,000,478RGDNCBI36
CeleraX131,558,934 - 131,559,208RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,577,213 - 120,577,487UniSTS
WI-11835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,209,827 - 131,209,954UniSTSGRCh37
Build 36X131,037,508 - 131,037,635RGDNCBI36
CeleraX131,596,236 - 131,596,363RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,614,271 - 120,614,398UniSTS
GeneMap99-GB4 RH MapX313.72UniSTS
Whitehead-RH MapX288.8UniSTS
WI-16556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,209,429 - 131,209,552UniSTSGRCh37
Build 36X131,037,110 - 131,037,233RGDNCBI36
CeleraX131,595,838 - 131,595,961RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,613,873 - 120,613,996UniSTS
GeneMap99-GB4 RH MapX313.82UniSTS
Whitehead-RH MapX290.2UniSTS
RH16585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,208,329 - 131,208,454UniSTSGRCh37
Build 36X131,036,010 - 131,036,135RGDNCBI36
CeleraX131,594,738 - 131,594,863RGD
Cytogenetic MapXq26.2UniSTS
HuRefX120,612,773 - 120,612,898UniSTS
GeneMap99-GB4 RH MapX315.59UniSTS
NCBI RH MapX673.1UniSTS
RH65695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,205,185 - 131,206,364UniSTSGRCh37
CeleraX131,591,594 - 131,592,773UniSTS
Cytogenetic MapXq26.2UniSTS
HuRefX120,609,629 - 120,610,808UniSTS
GeneMap99-GB4 RH MapX313.82UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3284
Count of miRNA genes:817
Interacting mature miRNAs:950
Transcripts:ENST00000354719, ENST00000394334, ENST00000394335, ENST00000481105, ENST00000496850
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 699 950 203 87 1360 72 1143 259 193 115 752 470 27 229 697 5
Low 1737 1780 1480 531 591 387 2772 1266 2692 279 704 1136 148 1 974 1653 1 2
Below cutoff 2 261 43 6 6 440 670 836 21 4 5 1 438

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB040057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF231012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF344882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF344883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA760264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354719   ⟹   ENSP00000346755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,023,302 - 132,075,943 (+)Ensembl
RefSeq Acc Id: ENST00000394334   ⟹   ENSP00000377867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,023,302 - 132,075,943 (+)Ensembl
RefSeq Acc Id: ENST00000394335   ⟹   ENSP00000377868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,023,305 - 132,075,943 (+)Ensembl
RefSeq Acc Id: ENST00000481105   ⟹   ENSP00000418753
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,023,302 - 132,074,461 (+)Ensembl
RefSeq Acc Id: ENST00000496850   ⟹   ENSP00000419702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,023,608 - 132,074,270 (+)Ensembl
RefSeq Acc Id: NM_001042452   ⟹   NP_001035917
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,023,589 - 132,075,943 (+)NCBI
GRCh37X131,157,245 - 131,209,971 (+)ENTREZGENE
Build 36X130,985,317 - 131,037,652 (+)NCBI Archive
HuRefX120,561,932 - 120,614,415 (+)ENTREZGENE
CHM1_1X131,069,212 - 131,121,548 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001042453   ⟹   NP_001035918
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,023,302 - 132,075,943 (+)NCBI
GRCh37X131,157,245 - 131,209,971 (+)ENTREZGENE
GRCh37X131,157,245 - 131,209,971 (+)NCBI
Build 36X130,984,926 - 131,037,652 (+)NCBI Archive
HuRefX120,561,932 - 120,614,415 (+)ENTREZGENE
CHM1_1X131,068,821 - 131,121,548 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016542   ⟹   NP_057626
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,023,302 - 132,075,943 (+)NCBI
GRCh37X131,157,245 - 131,209,971 (+)NCBI
Build 36X130,984,926 - 131,037,652 (+)NCBI Archive
HuRefX120,561,932 - 120,614,415 (+)ENTREZGENE
CHM1_1X131,068,821 - 131,121,548 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531349   ⟹   XP_011529651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,023,303 - 132,075,943 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531350   ⟹   XP_011529652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,023,302 - 132,075,943 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057626   ⟸   NM_016542
- Peptide Label: isoform 1
- UniProtKB: Q9P289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035918   ⟸   NM_001042453
- Peptide Label: isoform 2
- UniProtKB: Q9P289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035917   ⟸   NM_001042452
- Peptide Label: isoform 3
- UniProtKB: Q9P289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529652   ⟸   XM_011531350
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011529651   ⟸   XM_011531349
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000418753   ⟸   ENST00000481105
RefSeq Acc Id: ENSP00000419702   ⟸   ENST00000496850
RefSeq Acc Id: ENSP00000346755   ⟸   ENST00000354719
RefSeq Acc Id: ENSP00000377867   ⟸   ENST00000394334
RefSeq Acc Id: ENSP00000377868   ⟸   ENST00000394335
Protein Domains
Protein kinase

Promoters
RGD ID:6809246
Promoter ID:HG_KWN:68068
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:ENST00000312420,   ENST00000354719,   ENST00000361307,   NM_001042453,   NM_016542,   UC004EWM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X130,984,141 - 130,985,397 (+)MPROMDB
RGD ID:13628116
Promoter ID:EPDNEW_H29333
Type:initiation region
Name:STK26_1
Description:serine/threonine kinase 26
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29334  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,023,302 - 132,023,362EPDNEW
RGD ID:13628118
Promoter ID:EPDNEW_H29334
Type:initiation region
Name:STK26_2
Description:serine/threonine kinase 26
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29333  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,023,589 - 132,023,649EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
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:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2 copy number gain See cases [RCV000052446] ChrX:128395951..132383344 [GRCh38]
ChrX:127529929..131517372 [GRCh37]
ChrX:127357610..131345053 [NCBI36]
ChrX:Xq25-26.2
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-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq26.2(chrX:131679218-132563491)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054249]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054249]|See cases [RCV000054249] ChrX:131679218..132563491 [GRCh38]
ChrX:130813232..131697519 [GRCh37]
ChrX:130640913..131525200 [NCBI36]
ChrX:Xq26.2
uncertain significance
NM_194277.2(FRMD7):c.1429G>A (p.Asp477Asn) single nucleotide variant Malignant melanoma [RCV000063944] ChrX:132078588 [GRCh38]
ChrX:131212616 [GRCh37]
ChrX:131040297 [NCBI36]
ChrX:Xq26.2
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:129760788-132675352)x0 copy number loss See cases [RCV000239967] ChrX:129760788..132675352 [GRCh37]
ChrX:Xq26.1-26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
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 Xq26.1-26.2(chrX:129796796-132686500)x0 copy number loss See cases [RCV000240002] ChrX:129796796..132686500 [GRCh37]
ChrX:Xq26.1-26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq26.2(chrX:131014269-131416176)x3 copy number gain See cases [RCV000446058] ChrX:131014269..131416176 [GRCh37]
ChrX:Xq26.2
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
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)x2 copy number gain See cases [RCV000448112] ChrX:126307810..131646710 [GRCh37]
ChrX:Xq25-26.2
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq26.2(chrX:130818298-131542075)x3 copy number gain not provided [RCV000753777] ChrX:130818298..131542075 [GRCh37]
ChrX:Xq26.2
likely benign
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_016542.4(STK26):c.918C>T (p.Ser306=) single nucleotide variant not provided [RCV000973064] ChrX:132071203 [GRCh38]
ChrX:131205231 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366) copy number loss Infantile nystagmus, X-linked [RCV000767808] ChrX:130280298..132670366 [GRCh37]
ChrX:Xq26.1-26.2
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_016542.4(STK26):c.133C>T (p.Arg45Cys) single nucleotide variant not provided [RCV000908840] ChrX:132054721 [GRCh38]
ChrX:131188749 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq26.2(chrX:130807137-131596401)x2 copy number gain not provided [RCV000847158] ChrX:130807137..131596401 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.2(chrX:130814171-131217628)x3 copy number gain not provided [RCV000845907] ChrX:130814171..131217628 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq26.2(chrX:130810106-131200553)x2 copy number gain not provided [RCV000849429] ChrX:130810106..131200553 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
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 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq26.2(chrX:130483014-131224642)x3 copy number gain not provided [RCV001260045] ChrX:130483014..131224642 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq26.2(chrX:130809978-131200553)x3 copy number gain not provided [RCV001259507] ChrX:130809978..131200553 [GRCh37]
ChrX:Xq26.2
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18174 AgrOrtholog
COSMIC STK26 COSMIC
Ensembl Genes ENSG00000134602 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000346755 UniProtKB/TrEMBL
  ENSP00000377867 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377868 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418753 UniProtKB/TrEMBL
  ENSP00000419702 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000354719 UniProtKB/TrEMBL
  ENST00000394334 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394335 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000481105 UniProtKB/TrEMBL
  ENST00000496850 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000134602 GTEx
HGNC ID HGNC:18174 ENTREZGENE
Human Proteome Map STK26 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/TrEMBL
  STK_MST4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51765 UniProtKB/Swiss-Prot
NCBI Gene 51765 ENTREZGENE
OMIM 300547 OMIM
Pfam Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166123740 PharmGKB
PRINTS TYRKINASE UniProtKB/TrEMBL
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4E0Y9_HUMAN UniProtKB/TrEMBL
  Q8NBY1_HUMAN UniProtKB/TrEMBL
  Q9P289 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RAU2 UniProtKB/Swiss-Prot
  B9ZVX1 UniProtKB/TrEMBL
  Q3ZB77 UniProtKB/Swiss-Prot
  Q8NC04 UniProtKB/Swiss-Prot
  Q9BXC3 UniProtKB/Swiss-Prot
  Q9BXC4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-12-20 STK26  serine/threonine kinase 26    serine/threonine protein kinase 26  Symbol and/or name change 5135510 APPROVED
2014-09-24 STK26  serine/threonine protein kinase 26  MST4  serine/threonine protein kinase MST4  Symbol and/or name change 5135510 APPROVED
2014-01-14 MST4  serine/threonine protein kinase MST4  MASK    Symbol and/or name change 5135510 APPROVED
2014-01-07 MASK  serine/threonine protein kinase MST4  MST4    Symbol and/or name change 5135510 APPROVED
2011-08-23 MST4  serine/threonine protein kinase MST4  MST4  serine/threonine protein kinase MST4  Symbol and/or name change 5135510 APPROVED