BTK (Bruton tyrosine kinase) - Rat Genome Database

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Gene: BTK (Bruton tyrosine kinase) Homo sapiens
Analyze
Symbol: BTK
Name: Bruton tyrosine kinase
RGD ID: 1342660
HGNC Page HGNC
Description: Exhibits identical protein binding activity; phosphatidylinositol-3,4,5-trisphosphate binding activity; and protein tyrosine kinase activity. Involved in peptidyl-tyrosine phosphorylation. Localizes to cytosol; membrane raft; and plasma membrane. Implicated in X-linked agammaglobulinemia; agammaglobulinemia; isolated growth hormone deficiency type III; and mantle cell lymphoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: agammaglobulinaemia tyrosine kinase; AGMX1; AT; ATK; B-cell progenitor kinase; BPK; Bruton agammaglobulinemia tyrosine kinase; Bruton's tyrosine kinase; dominant-negative kinase-deficient Brutons tyrosine kinase; IGHD3; IMD1; MGC126261; MGC126262; PSCTK1; truncated Bruton agammaglobulinemia tyrosine kinase; tyrosine-protein kinase BTK; tyrosine-protein kinase BTK isoform (lacking exon 13 to 17); tyrosine-protein kinase BTK isoform (lacking exon 14); XLA
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 EnsemblX101,349,447 - 101,390,796 (-)EnsemblGRCh38hg38GRCh38
GRCh38X101,349,450 - 101,390,796 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,604,438 - 100,645,784 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,491,098 - 100,527,838 (-)NCBINCBI36hg18NCBI36
Build 34X100,410,586 - 100,447,327NCBI
CeleraX101,123,894 - 101,160,669 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX90,410,583 - 90,447,505 (-)NCBIHuRef
CHM1_1X100,497,918 - 100,539,264 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of the tonsils  (IAGP)
Agammaglobulinemia  (IAGP)
Alopecia  (IAGP)
Anemia  (IAGP)
Arthritis  (IAGP)
Autoimmunity  (IAGP)
Cellulitis  (IAGP)
Chronic diarrhea  (IAGP)
Chronic lymphatic leukemia  (IAGP)
Chronic otitis media  (IAGP)
Conjunctivitis  (IAGP)
Cor pulmonale  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Diarrhea  (IAGP)
Encephalitis  (IAGP)
Enteroviral dermatomyositis syndrome  (IAGP)
Enteroviral hepatitis  (IAGP)
Epididymitis  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Glossoptosis  (IAGP)
Hearing impairment  (IAGP)
Hepatitis  (IAGP)
Hypocalcemia  (IAGP)
Hypopigmented skin patches  (IAGP)
Immunodeficiency  (IAGP)
Lymph node hypoplasia  (IAGP)
Malabsorption  (IAGP)
Meningitis  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the breast  (IAGP)
Neutropenia  (IAGP)
Osteomyelitis  (IAGP)
Otitis media  (IAGP)
Panhypogammaglobulinemia  (IAGP)
Pneumonia  (IAGP)
Prostatitis  (IAGP)
Pyoderma  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent cutaneous abscess formation  (IAGP)
Recurrent enteroviral infections  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Schizophrenia  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sepsis  (IAGP)
Septic arthritis  (IAGP)
Short stature  (IAGP)
Sinusitis  (IAGP)
Skin rash  (IAGP)
Skin ulcer  (IAGP)
Thrombocytopenia  (IAGP)
Weight loss  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
1. Advani RH, etal., J Clin Oncol. 2013 Jan 1;31(1):88-94. doi: 10.1200/JCO.2012.42.7906. Epub 2012 Oct 8.
2. Chu Y, etal., Oncoimmunology. 2018 Oct 11;8(1):e1512455. doi: 10.1080/2162402X.2018.1512455. eCollection 2019.
3. Danielian S, etal., Hum Mutat. 2003 Apr;21(4):451.
4. de Porto AP, etal., Mol Med. 2019 Jan 15;25(1):3. doi: 10.1186/s10020-018-0069-7.
5. de Porto APNA, etal., Thromb Haemost. 2019 Jun;119(6):930-940. doi: 10.1055/s-0039-1681046. Epub 2019 Mar 14.
6. de Weers M, etal., Hum Mol Genet. 1994 Jan;3(1):161-6.
7. Florence JM, etal., Am J Physiol Lung Cell Mol Physiol. 2018 Jul 1;315(1):L52-L58. doi: 10.1152/ajplung.00047.2018. Epub 2018 Mar 8.
8. GOA_HUMAN data from the GO Consortium
9. Gonzaga WFKM, etal., J Parasitol. 2017 Dec;103(6):708-717. doi: 10.1645/16-145. Epub 2017 Aug 7.
10. Huang W, etal., J Allergy Clin Immunol. 2016 Apr;137(4):1197-205. doi: 10.1016/j.jaci.2015.08.056. Epub 2015 Nov 12.
11. Köprülü AD, etal., PLoS One. 2013;8(3):e60476. doi: 10.1371/journal.pone.0060476. Epub 2013 Mar 27.
12. Lee S, etal., Br J Haematol. 2017 May;177(4):601-611. doi: 10.1111/bjh.14604. Epub 2017 May 4.
13. Lionakis MS, etal., Cancer Cell. 2017 Jun 12;31(6):833-843.e5. doi: 10.1016/j.ccell.2017.04.012. Epub 2017 May 25.
14. Moore ML, etal., J Virol. 2004 Jun;78(11):5584-90. doi: 10.1128/JVI.78.11.5584-5590.2004.
15. Ng YY, etal., Leukemia. 2010 Sep;24(9):1617-30. doi: 10.1038/leu.2010.140. Epub 2010 Jun 24.
16. OMIM Disease Annotation Pipeline
17. Pinschewer DD, etal., Eur J Immunol. 1999 Sep;29(9):2981-7. doi: 10.1002/(SICI)1521-4141(199909)29:09<2981::AID-IMMU2981>3.0.CO;2-Y.
18. Pipeline to import KEGG annotations from KEGG into RGD
19. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
20. Pipeline to import SMPDB annotations from SMPDB into RGD
21. Poole AW, etal., Trends Pharmacol Sci. 2004 Oct;25(10):528-35.
22. Rawlings DJ, etal., Science. 1993 Jul 16;261(5119):358-61.
23. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
24. RGD automated import pipeline for gene-chemical interactions
25. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
26. Riccio LGC, etal., Hum Reprod. 2019 Jul 8;34(7):1225-1234. doi: 10.1093/humrep/dez071.
27. Roschewski M, etal., Sci Immunol. 2020 Jun 5;5(48). pii: 5/48/eabd0110. doi: 10.1126/sciimmunol.abd0110. Epub 2020 Jun 5.
28. Sagiv-Barfi I, etal., Blood. 2015 Mar 26;125(13):2079-86. doi: 10.1182/blood-2014-08-593137. Epub 2015 Feb 6.
29. Strijbis K, etal., PLoS One. 2014 Nov 7;9(11):e112472. doi: 10.1371/journal.pone.0112472. eCollection 2014.
30. Szymczak WA, etal., mBio. 2013 Jul 2;4(4). pii: mBio.00265-13. doi: 10.1128/mBio.00265-13.
31. Velickovic M, etal., Hum Mutat. 2004 Apr;23(4):398-9.
32. Xu D, etal., J Pharmacol Exp Ther. 2012 Apr;341(1):90-103. doi: 10.1124/jpet.111.187740. Epub 2012 Jan 6.
33. Yu PW, etal., Blood. 2004 Sep 1;104(5):1281-90. doi: 10.1182/blood-2003-09-3044. Epub 2004 May 13.
34. Zhang L, etal., Clin Cancer Res. 2017 Aug 1;23(15):4212-4223. doi: 10.1158/1078-0432.CCR-16-2703. Epub 2017 Mar 27.
Additional References at PubMed
PMID:1915549   PMID:2881637   PMID:7518558   PMID:7522330   PMID:7626884   PMID:7627183   PMID:7629518   PMID:7633420   PMID:7633429   PMID:7711734   PMID:7809124   PMID:7849006  
PMID:7849697   PMID:7849721   PMID:7880320   PMID:7897635   PMID:7907259   PMID:7925280   PMID:7927535   PMID:7959728   PMID:7972043   PMID:8013627   PMID:8058772   PMID:8090769  
PMID:8125298   PMID:8162056   PMID:8258324   PMID:8283037   PMID:8380905   PMID:8425221   PMID:8594569   PMID:8617237   PMID:8629002   PMID:8630736   PMID:8634718   PMID:8688094  
PMID:8695804   PMID:8723128   PMID:8758136   PMID:8834236   PMID:8892607   PMID:9012831   PMID:9016530   PMID:9110171   PMID:9178903   PMID:9201297   PMID:9218782   PMID:9260159  
PMID:9280283   PMID:9333013   PMID:9408950   PMID:9445504   PMID:9485443   PMID:9545398   PMID:9571151   PMID:9742969   PMID:9751072   PMID:9770463   PMID:9796816   PMID:9837922  
PMID:10068673   PMID:10196129   PMID:10201980   PMID:10220140   PMID:10339589   PMID:10373551   PMID:10427990   PMID:10498607   PMID:10556826   PMID:10561498   PMID:10612838   PMID:10826882  
PMID:10872802   PMID:10981967   PMID:11163197   PMID:11226282   PMID:11231015   PMID:11313464   PMID:11329620   PMID:11373296   PMID:11375929   PMID:11413148   PMID:11431473   PMID:11434777  
PMID:11438999   PMID:11507089   PMID:11524430   PMID:11527964   PMID:11577348   PMID:11598012   PMID:11606584   PMID:11665629   PMID:11668622   PMID:11698416   PMID:11742120   PMID:11751885  
PMID:11788586   PMID:11877742   PMID:11913944   PMID:11920564   PMID:11934902   PMID:12001708   PMID:12093870   PMID:12204007   PMID:12235133   PMID:12405164   PMID:12437073   PMID:12445832  
PMID:12477932   PMID:12573241   PMID:12679936   PMID:12724322   PMID:12768435   PMID:12769846   PMID:12810683   PMID:12854903   PMID:12970174   PMID:14614850   PMID:14623887   PMID:14634110  
PMID:14702039   PMID:14974089   PMID:15007095   PMID:15046600   PMID:15082835   PMID:15087455   PMID:15096481   PMID:15184383   PMID:15203319   PMID:15355990   PMID:15375214   PMID:15466623  
PMID:15489334   PMID:15539407   PMID:15712380   PMID:15772651   PMID:15849198   PMID:15894173   PMID:15939795   PMID:16141323   PMID:16159644   PMID:16300960   PMID:16344560   PMID:16415872  
PMID:16439361   PMID:16517732   PMID:16640565   PMID:16751014   PMID:16951917   PMID:16964398   PMID:16969585   PMID:17264076   PMID:17290227   PMID:17707910   PMID:17765309   PMID:17823121  
PMID:17932028   PMID:18022864   PMID:18029348   PMID:18051214   PMID:18067320   PMID:18241233   PMID:18548107   PMID:18596081   PMID:18726917   PMID:18776760   PMID:18809383   PMID:19017959  
PMID:19039656   PMID:19206206   PMID:19212330   PMID:19214191   PMID:19290921   PMID:19342689   PMID:19380743   PMID:19464057   PMID:19471023   PMID:19763791   PMID:19807924   PMID:19859091  
PMID:19904586   PMID:19913121   PMID:19949111   PMID:19953087   PMID:20052711   PMID:20056178   PMID:20301626   PMID:20628086   PMID:20634142   PMID:20715177   PMID:20804422   PMID:20936779  
PMID:21039741   PMID:21080425   PMID:21422473   PMID:21482705   PMID:21622861   PMID:21659545   PMID:21784852   PMID:21822214   PMID:21832049   PMID:21873635   PMID:21988832   PMID:21991724  
PMID:22053596   PMID:22312945   PMID:22366891   PMID:22378381   PMID:22527282   PMID:22589540   PMID:22623531   PMID:22689860   PMID:22745667   PMID:22939624   PMID:22973453   PMID:23239500  
PMID:23581641   PMID:23754751   PMID:23913792   PMID:23967355   PMID:23977012   PMID:24307721   PMID:24307874   PMID:24311722   PMID:24375473   PMID:24383975   PMID:24510558   PMID:24612681  
PMID:24658273   PMID:24712864   PMID:24722985   PMID:24728074   PMID:24840642   PMID:24869598   PMID:24970801   PMID:25083818   PMID:25170122   PMID:25189416   PMID:25284608   PMID:25316352  
PMID:25413232   PMID:25433814   PMID:25486872   PMID:25498455   PMID:25589346   PMID:25589397   PMID:25605370   PMID:25724205   PMID:25757060   PMID:25777788   PMID:25814554   PMID:25825872  
PMID:25910212   PMID:25944695   PMID:26036311   PMID:26059659   PMID:26089373   PMID:26182170   PMID:26292723   PMID:26344197   PMID:26383180   PMID:26387629   PMID:26475492   PMID:26540570  
PMID:26715645   PMID:26804170   PMID:26864273   PMID:26880800   PMID:26910880   PMID:26931785   PMID:26961147   PMID:27111445   PMID:27157620   PMID:27287071   PMID:27512878   PMID:27630139  
PMID:27792904   PMID:28216434   PMID:28218735   PMID:28273548   PMID:28369144   PMID:28398200   PMID:28422989   PMID:28428442   PMID:28514442   PMID:28548645   PMID:28573668   PMID:28879546  
PMID:28946903   PMID:29290977   PMID:29381098   PMID:29478914   PMID:29480835   PMID:29496671   PMID:29567473   PMID:29717662   PMID:29851337   PMID:30072168   PMID:30337526   PMID:30397336  
PMID:30442766   PMID:30463901   PMID:30627929   PMID:30762338   PMID:30872780   PMID:30887112   PMID:30940906   PMID:31019091   PMID:31115091   PMID:31217352   PMID:31534006   PMID:31586073  
PMID:31591208   PMID:31801949   PMID:31895698   PMID:32169379   PMID:32184360   PMID:32232486   PMID:32484802   PMID:32552675   PMID:32640487  


Genomics

Comparative Map Data
BTK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX101,349,447 - 101,390,796 (-)EnsemblGRCh38hg38GRCh38
GRCh38X101,349,450 - 101,390,796 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,604,438 - 100,645,784 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,491,098 - 100,527,838 (-)NCBINCBI36hg18NCBI36
Build 34X100,410,586 - 100,447,327NCBI
CeleraX101,123,894 - 101,160,669 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX90,410,583 - 90,447,505 (-)NCBIHuRef
CHM1_1X100,497,918 - 100,539,264 (-)NCBICHM1_1
Btk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X133,443,083 - 133,484,366 (-)NCBIGRCm39mm39
GRCm39 EnsemblX133,443,085 - 133,484,319 (-)Ensembl
GRCm38X134,542,334 - 134,583,628 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX134,542,336 - 134,583,570 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X131,076,880 - 131,117,679 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X129,888,761 - 129,929,466 (-)NCBImm8
CeleraX117,421,885 - 117,462,725 (-)NCBICelera
Cytogenetic MapXE3NCBI
cM MapX56.18NCBI
Btk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X97,722,796 - 97,762,315 (-)NCBI
Rnor_6.0 EnsemblX105,360,922 - 105,390,580 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X105,360,922 - 105,390,580 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X105,250,666 - 105,279,934 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X121,998,935 - 122,030,289 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X122,072,367 - 122,103,722 (-)NCBI
CeleraX98,764,036 - 98,794,122 (-)NCBICelera
Cytogenetic MapXq32NCBI
Btk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555037,482,793 - 7,515,120 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555037,483,819 - 7,515,085 (-)NCBIChiLan1.0ChiLan1.0
BTK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X100,684,017 - 100,720,868 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX100,684,017 - 100,725,187 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X90,551,874 - 90,588,786 (-)NCBIMhudiblu_PPA_v0panPan3
BTK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X75,270,952 - 75,302,663 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX75,270,979 - 75,302,562 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X76,691,359 - 76,723,087 (-)NCBI
UMICH_Zoey_3.1X74,255,464 - 74,287,205 (-)NCBI
UNSW_CanFamBas_1.0X75,915,885 - 75,947,610 (-)NCBI
UU_Cfam_GSD_1.0X75,678,325 - 75,710,045 (-)NCBI
Btk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X63,007,672 - 63,045,710 (+)NCBI
SpeTri2.0NW_004936813429,400 - 467,481 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BTK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX82,981,515 - 83,014,573 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X82,981,512 - 83,014,475 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
BTK
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X89,690,569 - 89,727,420 (-)NCBI
Btk
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249021,173,101 - 1,216,662 (+)NCBI

Position Markers
RH70553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,625,067 - 100,625,208UniSTSGRCh37
Build 36X100,511,723 - 100,511,864RGDNCBI36
CeleraX101,144,526 - 101,144,667RGD
Cytogenetic MapXq21.33-q22UniSTS
HuRefX90,430,936 - 90,431,077UniSTS
GeneMap99-GB4 RH MapX271.84UniSTS
RH70566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,608,721 - 100,608,843UniSTSGRCh37
Build 36X100,495,377 - 100,495,499RGDNCBI36
CeleraX101,128,180 - 101,128,302RGD
Cytogenetic MapXq21.33-q22UniSTS
HuRefX90,414,869 - 90,414,991UniSTS
GeneMap99-GB4 RH MapX272.95UniSTS
RH93533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,604,722 - 100,604,848UniSTSGRCh37
Build 36X100,491,378 - 100,491,504RGDNCBI36
CeleraX101,124,181 - 101,124,307RGD
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXq21.33-q22UniSTS
HuRefX90,410,870 - 90,410,996UniSTS
GeneMap99-GB4 RH MapX272.06UniSTS
RH80171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,610,587 - 100,610,825UniSTSGRCh37
Build 36X100,497,243 - 100,497,481RGDNCBI36
CeleraX101,130,046 - 101,130,284RGD
Cytogenetic MapXq21.33-q22UniSTS
HuRefX90,416,735 - 90,416,973UniSTS
GeneMap99-GB4 RH MapX271.74UniSTS
G44349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,604,761 - 100,604,876UniSTSGRCh37
Build 36X100,491,417 - 100,491,532RGDNCBI36
CeleraX101,124,220 - 101,124,335RGD
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXq21.33-q22UniSTS
HuRefX90,410,909 - 90,411,024UniSTS
GDB:376892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,604,688 - 100,604,942UniSTSGRCh37
Build 36X100,491,344 - 100,491,598RGDNCBI36
CeleraX101,124,147 - 101,124,401RGD
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXq21.33-q22UniSTS
HuRefX90,410,836 - 90,411,090UniSTS
DXS7424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,618,816 - 100,618,983UniSTSGRCh37
Build 36X100,505,472 - 100,505,639RGDNCBI36
CeleraX101,138,275 - 101,138,442RGD
Cytogenetic MapXq21.33-q22UniSTS
HuRefX90,424,964 - 90,425,131UniSTS
GDB:607597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,615,455 - 100,615,662UniSTSGRCh37
Build 36X100,502,111 - 100,502,318RGDNCBI36
CeleraX101,134,914 - 101,135,121RGD
Cytogenetic MapXq21.33-q22UniSTS
HuRefX90,421,603 - 90,421,810UniSTS
BTK_4321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,604,458 - 100,604,906UniSTSGRCh37
Build 36X100,491,114 - 100,491,562RGDNCBI36
CeleraX101,123,917 - 101,124,365RGD
HuRefX90,410,606 - 90,411,054UniSTS
RH35738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,604,585 - 100,604,773UniSTSGRCh37
Build 36X100,491,241 - 100,491,429RGDNCBI36
CeleraX101,124,044 - 101,124,232RGD
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXq21.33-q22UniSTS
HuRefX90,410,733 - 90,410,921UniSTS
GeneMap99-GB4 RH MapX272.95UniSTS
BTK  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,608,431 - 100,608,590UniSTSGRCh37
Build 36X100,495,087 - 100,495,246RGDNCBI36
CeleraX101,127,890 - 101,128,049RGD
HuRefX90,414,579 - 90,414,738UniSTS
GDB:555569  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq21.33-q22UniSTS
GDB:555566  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq21.33-q22UniSTS
DXS178  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq21.33-q22UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR346hsa-miR-346Mirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Northern blot/Functional MTI19342689

Predicted Target Of
Summary Value
Count of predictions:1724
Count of miRNA genes:862
Interacting mature miRNAs:988
Transcripts:ENST00000308731, ENST00000372880, ENST00000464006, ENST00000464567, ENST00000470069, ENST00000470329, ENST00000478995, ENST00000488970
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 124 729 45 18 1702 18 142 16 55 33 51 575 1 139 29
Low 2182 1920 1462 506 214 343 3421 1274 2618 283 1234 778 165 1 1064 2100 4 2
Below cutoff 63 339 208 93 27 94 767 886 1021 75 128 174 1 1 659 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF153364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF375615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ888376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ888377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ888378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ888379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ888380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ888381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM051275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM051276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM051277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM051278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM051279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM051280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM051281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM051282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM051283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM051284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM051285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM051286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU107296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV733045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA619542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB331677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB636737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ124931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF241986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN687943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X58957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000308731   ⟹   ENSP00000308176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,349,450 - 101,386,191 (-)Ensembl
RefSeq Acc Id: ENST00000372880   ⟹   ENSP00000361971
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,349,447 - 101,386,224 (-)Ensembl
RefSeq Acc Id: ENST00000464006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,362,191 - 101,362,815 (-)Ensembl
RefSeq Acc Id: ENST00000464567
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,374,306 - 101,386,148 (-)Ensembl
RefSeq Acc Id: ENST00000470069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,353,043 - 101,353,984 (-)Ensembl
RefSeq Acc Id: ENST00000470329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,356,511 - 101,358,361 (-)Ensembl
RefSeq Acc Id: ENST00000478995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,355,585 - 101,356,804 (-)Ensembl
RefSeq Acc Id: ENST00000488970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,353,319 - 101,354,221 (-)Ensembl
RefSeq Acc Id: ENST00000618050   ⟹   ENSP00000479125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,349,447 - 101,375,284 (-)Ensembl
RefSeq Acc Id: ENST00000621635   ⟹   ENSP00000483570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,349,447 - 101,390,796 (-)Ensembl
RefSeq Acc Id: NM_000061   ⟹   NP_000052
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,349,450 - 101,386,191 (-)NCBI
GRCh37X100,604,435 - 100,641,212 (-)ENTREZGENE
GRCh37X100,604,435 - 100,641,212 (-)NCBI
Build 36X100,491,098 - 100,527,838 (-)NCBI Archive
HuRefX90,410,583 - 90,452,077 (-)NCBI
CHM1_1X100,497,918 - 100,534,692 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287344   ⟹   NP_001274273
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,349,450 - 101,390,796 (-)NCBI
HuRefX90,410,583 - 90,452,077 (-)NCBI
CHM1_1X100,497,918 - 100,539,264 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287345   ⟹   NP_001274274
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,349,450 - 101,386,191 (-)NCBI
HuRefX90,410,583 - 90,452,077 (-)NCBI
CHM1_1X100,497,918 - 100,534,692 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000052 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274273 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274274 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA61479 (Get FASTA)   NCBI Sequence Viewer  
  AAB60639 (Get FASTA)   NCBI Sequence Viewer  
  AAB64205 (Get FASTA)   NCBI Sequence Viewer  
  AAF37332 (Get FASTA)   NCBI Sequence Viewer  
  AAF37333 (Get FASTA)   NCBI Sequence Viewer  
  AAF37334 (Get FASTA)   NCBI Sequence Viewer  
  AAF37335 (Get FASTA)   NCBI Sequence Viewer  
  AAF37336 (Get FASTA)   NCBI Sequence Viewer  
  AAF37337 (Get FASTA)   NCBI Sequence Viewer  
  AAF37338 (Get FASTA)   NCBI Sequence Viewer  
  AAF37339 (Get FASTA)   NCBI Sequence Viewer  
  AAF37340 (Get FASTA)   NCBI Sequence Viewer  
  AAF37341 (Get FASTA)   NCBI Sequence Viewer  
  AAF61477 (Get FASTA)   NCBI Sequence Viewer  
  AAI09080 (Get FASTA)   NCBI Sequence Viewer  
  AAI09081 (Get FASTA)   NCBI Sequence Viewer  
  AAZ38824 (Get FASTA)   NCBI Sequence Viewer  
  AGW32074 (Get FASTA)   NCBI Sequence Viewer  
  BAG37008 (Get FASTA)   NCBI Sequence Viewer  
  BAG51864 (Get FASTA)   NCBI Sequence Viewer  
  CAA41728 (Get FASTA)   NCBI Sequence Viewer  
  CAI59836 (Get FASTA)   NCBI Sequence Viewer  
  CAI59837 (Get FASTA)   NCBI Sequence Viewer  
  CAI59838 (Get FASTA)   NCBI Sequence Viewer  
  CAI59839 (Get FASTA)   NCBI Sequence Viewer  
  CAI59840 (Get FASTA)   NCBI Sequence Viewer  
  CAI59842 (Get FASTA)   NCBI Sequence Viewer  
  CAJ19681 (Get FASTA)   NCBI Sequence Viewer  
  CAJ19682 (Get FASTA)   NCBI Sequence Viewer  
  CAJ19683 (Get FASTA)   NCBI Sequence Viewer  
  CAJ19684 (Get FASTA)   NCBI Sequence Viewer  
  CAJ19685 (Get FASTA)   NCBI Sequence Viewer  
  CAJ19686 (Get FASTA)   NCBI Sequence Viewer  
  CAJ19687 (Get FASTA)   NCBI Sequence Viewer  
  CAJ19688 (Get FASTA)   NCBI Sequence Viewer  
  CAJ19689 (Get FASTA)   NCBI Sequence Viewer  
  CAJ19690 (Get FASTA)   NCBI Sequence Viewer  
  CAJ19691 (Get FASTA)   NCBI Sequence Viewer  
  CAJ19692 (Get FASTA)   NCBI Sequence Viewer  
  EAX02856 (Get FASTA)   NCBI Sequence Viewer  
  EAX02857 (Get FASTA)   NCBI Sequence Viewer  
  EAX02858 (Get FASTA)   NCBI Sequence Viewer  
  Q06187 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000052   ⟸   NM_000061
- Peptide Label: isoform 1
- UniProtKB: Q06187 (UniProtKB/Swiss-Prot),   Q5JY90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274273   ⟸   NM_001287344
- Peptide Label: isoform 3
- UniProtKB: Q06187 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274274   ⟸   NM_001287345
- Peptide Label: isoform 2
- UniProtKB: Q06187 (UniProtKB/Swiss-Prot),   Q5JY90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000483570   ⟸   ENST00000621635
RefSeq Acc Id: ENSP00000361971   ⟸   ENST00000372880
RefSeq Acc Id: ENSP00000308176   ⟸   ENST00000308731
RefSeq Acc Id: ENSP00000479125   ⟸   ENST00000618050
Protein Domains
PH   Protein kinase   SH2   SH3

Promoters
RGD ID:6808553
Promoter ID:HG_KWN:67499
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000057531
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,495,501 - 100,496,001 (-)MPROMDB
RGD ID:6808550
Promoter ID:HG_KWN:67500
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000057527
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,498,701 - 100,499,202 (-)MPROMDB
RGD ID:6808551
Promoter ID:HG_KWN:67501
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000057528,   UC004EHE.1,   UC004EHF.1,   UC004EHH.1,   UC010NNH.1,   UC010NNI.1,   UC010NNJ.1,   UC010NNK.1,   UC010NNL.1,   UC010NNM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,499,616 - 100,500,952 (-)MPROMDB
RGD ID:6808552
Promoter ID:HG_KWN:67502
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000057529
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,504,501 - 100,505,001 (-)MPROMDB
RGD ID:6808662
Promoter ID:HG_KWN:67503
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000372855,   ENST00000372859,   ENST00000372860,   ENST00000372869,   ENST00000395179,   NM_000061,   OTTHUMT00000057530,   UC004EHI.1,   UC010NNN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,527,561 - 100,528,061 (-)MPROMDB
RGD ID:6809249
Promoter ID:HG_KWN:67504
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:ENST00000409170,   ENST00000409338,   OTTHUMT00000057547,   OTTHUMT00000057548,   OTTHUMT00000057553,   OTTHUMT00000326775,   OTTHUMT00000326777,   UC004EHJ.1,   UC010NNO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,531,286 - 100,533,622 (+)MPROMDB
RGD ID:13627620
Promoter ID:EPDNEW_H29085
Type:multiple initiation site
Name:BTK_2
Description:Bruton tyrosine kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29086  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,381,014 - 101,381,074EPDNEW
RGD ID:13627622
Promoter ID:EPDNEW_H29086
Type:initiation region
Name:BTK_1
Description:Bruton tyrosine kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29085  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,386,191 - 101,386,251EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000061.2(BTK):c.941A>G (p.Lys314Arg) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000549821] ChrX:101358650 [GRCh38]
ChrX:100613638 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.119A>G (p.Tyr40Cys) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000707368]|not provided [RCV000521066] ChrX:101375166 [GRCh38]
ChrX:100630154 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001287345.1(BTK):c.1038+31G>A single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000546608] ChrX:101358343 [GRCh38]
ChrX:100613331 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.1455C>A (p.Tyr485Ter) single nucleotide variant X-linked agammaglobulinemia [RCV000029409] ChrX:101356163 [GRCh38]
ChrX:100611151 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1511A>T (p.Asp504Val) single nucleotide variant X-linked agammaglobulinemia [RCV000029410] ChrX:101356107 [GRCh38]
ChrX:100611095 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.1673_1680del (p.Lys558fs) deletion X-linked agammaglobulinemia [RCV000029411] ChrX:101353940..101353947 [GRCh38]
ChrX:100608928..100608935 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.391+137dup duplication X-linked agammaglobulinemia [RCV000029412] ChrX:101369854..101369855 [GRCh38]
ChrX:100624842..100624843 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.472_475del (p.Thr158fs) deletion X-linked agammaglobulinemia [RCV000029413]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000698891] ChrX:101362606..101362609 [GRCh38]
ChrX:100617594..100617597 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000061.2(BTK):c.777-2A>G single nucleotide variant X-linked agammaglobulinemia [RCV000029414]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001055502] ChrX:101360152 [GRCh38]
ChrX:100615140 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.777-3C>G single nucleotide variant X-linked agammaglobulinemia [RCV000029415] ChrX:101360153 [GRCh38]
ChrX:100615141 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.840-1G>A single nucleotide variant X-linked agammaglobulinemia [RCV000029416] ChrX:101359348 [GRCh38]
ChrX:100614336 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.895-2A>G single nucleotide variant X-linked agammaglobulinemia [RCV000029417] ChrX:101358698 [GRCh38]
ChrX:100613686 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.998A>G (p.His333Arg) single nucleotide variant X-linked agammaglobulinemia [RCV000029418] ChrX:101358414 [GRCh38]
ChrX:100613402 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.726dup (p.Ile243fs) duplication X-linked agammaglobulinemia [RCV000727543] ChrX:101360617..101360618 [GRCh38]
ChrX:100615605..100615606 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) single nucleotide variant Autosomal recessive agammaglobulinemia 1 [RCV000581245]|X-linked agammaglobulinemia [RCV000012095]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001204367]|not provided [RCV001267912] ChrX:101354687 [GRCh38]
ChrX:100609675 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001287345.1(BTK):c.1038+1529A>G single nucleotide variant X-linked agammaglobulinemia [RCV000012096] ChrX:101356845 [GRCh38]
ChrX:100611833 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.37C>T (p.Arg13Ter) single nucleotide variant X-linked agammaglobulinemia [RCV000012097] ChrX:101375248 [GRCh38]
ChrX:100630236 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.43C>T (p.Gln15Ter) single nucleotide variant Inherited Immunodeficiency Diseases [RCV001027550]|X-linked agammaglobulinemia [RCV000012098] ChrX:101375242 [GRCh38]
ChrX:100630230 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001287345.1(BTK):c.1038+44A>G single nucleotide variant X-linked agammaglobulinemia [RCV000012099] ChrX:101358330 [GRCh38]
ChrX:100613318 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1750+5G>A single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000012100] ChrX:101353865 [GRCh38]
ChrX:100608853 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.83G>A (p.Arg28His) single nucleotide variant Autosomal recessive agammaglobulinemia 1 [RCV000583846]|X-linked agammaglobulinemia [RCV000012101]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000819061]|not provided [RCV000427660] ChrX:101375202 [GRCh38]
ChrX:100630190 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.2T>C (p.Met1Thr) single nucleotide variant X-linked agammaglobulinemia [RCV000012102] ChrX:101375283 [GRCh38]
ChrX:100630271 [GRCh37]
ChrX:Xq22.1
pathogenic
BTK, ALA-ASP, 1952C-A single nucleotide variant Hypogammaglobulinemia, X-linked [RCV000012103] ChrX:Xq21.3-q22 pathogenic
NM_000061.2(BTK):c.97A>C (p.Thr33Pro) single nucleotide variant X-linked agammaglobulinemia [RCV000012104] ChrX:101375188 [GRCh38]
ChrX:100630176 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.228_231del (p.Glu76fs) deletion X-linked agammaglobulinemia [RCV000012105] ChrX:101374545..101374548 [GRCh38]
ChrX:100629533..100629536 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.141+3_141+4del deletion X-linked agammaglobulinemia [RCV000012106] ChrX:101375140..101375141 [GRCh38]
ChrX:100630128..100630129 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.310-1G>C single nucleotide variant X-linked agammaglobulinemia [RCV000012107] ChrX:101370080 [GRCh38]
ChrX:100625068 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.310-2A>G single nucleotide variant X-linked agammaglobulinemia [RCV000012108] ChrX:101370081 [GRCh38]
ChrX:100625069 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.338T>A (p.Val113Asp) single nucleotide variant X-linked agammaglobulinemia [RCV000012109] ChrX:101370051 [GRCh38]
ChrX:100625039 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.389del (p.Asn130fs) deletion X-linked agammaglobulinemia [RCV000012110] ChrX:101370000 [GRCh38]
ChrX:100624988 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.557dup (p.Pro187fs) duplication X-linked agammaglobulinemia [RCV000012111]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000691136] ChrX:101362203..101362204 [GRCh38]
ChrX:100617191..100617192 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.588_589insCTACATAG (p.Ile197fs) insertion X-linked agammaglobulinemia [RCV000012112] ChrX:101362172..101362173 [GRCh38]
ChrX:100617160..100617161 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.653del (p.Lys218fs) deletion X-linked agammaglobulinemia [RCV000012113] ChrX:101360691 [GRCh38]
ChrX:100615679 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.718G>T (p.Glu240Ter) single nucleotide variant X-linked agammaglobulinemia [RCV000012114] ChrX:101360626 [GRCh38]
ChrX:100615614 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.755G>A (p.Trp252Ter) single nucleotide variant X-linked agammaglobulinemia [RCV000012115] ChrX:101360589 [GRCh38]
ChrX:100615577 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.763C>T single nucleotide variant Autosomal recessive agammaglobulinemia 1 [RCV000583310]|X-linked agammaglobulinemia [RCV000012116]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001221640]|not provided [RCV001269823] ChrX:101360581 [GRCh38]
ChrX:100615569 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.839+1G>A single nucleotide variant X-linked agammaglobulinemia [RCV000012117] ChrX:101360087 [GRCh38]
ChrX:100615075 [GRCh37]
ChrX:Xq22.1
pathogenic
BTK, 1-BP DEL/3-BP INS, CODON 261 indel X-linked agammaglobulinemia [RCV000012118] ChrX:Xq21.3-q22 pathogenic
NM_000061.2(BTK):c.862C>T (p.Arg288Trp) single nucleotide variant X-linked agammaglobulinemia [RCV000012119]|X-linked agammaglobulinemia [RCV000768159] ChrX:101359325 [GRCh38]
ChrX:100614313 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000061.2(BTK):c.919A>G (p.Arg307Gly) single nucleotide variant X-linked agammaglobulinemia [RCV000012120] ChrX:101358672 [GRCh38]
ChrX:100613660 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1001A>C (p.Tyr334Ser) single nucleotide variant X-linked agammaglobulinemia [RCV000012121] ChrX:101358411 [GRCh38]
ChrX:100613399 [GRCh37]
ChrX:Xq22.1
pathogenic
BTK, 1-BP DEL, IVS11DS, +1G deletion X-linked agammaglobulinemia [RCV000012122] ChrX:Xq21.3-q22 pathogenic
BTK, IVS12AS, A-T, -2 single nucleotide variant X-linked agammaglobulinemia [RCV000012123] ChrX:Xq21.3-q22 pathogenic
NM_001287345.1(BTK):c.1038+813T>G single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000012124] ChrX:101357561 [GRCh38]
ChrX:100612549 [GRCh37]
ChrX:Xq22.1
pathogenic
BTK, 16-BP INS, NT1263 insertion X-linked agammaglobulinemia [RCV000012125] ChrX:Xq21.3-q22 pathogenic
NM_001287345.1(BTK):c.1038+1464T>C single nucleotide variant X-linked agammaglobulinemia [RCV000012126] ChrX:101356910 [GRCh38]
ChrX:100611898 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001287345.1(BTK):c.1038+1516C>A single nucleotide variant X-linked agammaglobulinemia [RCV000012127] ChrX:101356858 [GRCh38]
ChrX:100611846 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001287345.1(BTK):c.1039-1418C>A single nucleotide variant X-linked agammaglobulinemia [RCV000012128] ChrX:101356112 [GRCh38]
ChrX:100611100 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1516T>C (p.Cys506Arg) single nucleotide variant X-linked agammaglobulinemia [RCV000012129]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001035091] ChrX:101356102 [GRCh38]
ChrX:100611090 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_000061.2(BTK):c.1558C>T (p.Arg520Ter) single nucleotide variant Autosomal recessive agammaglobulinemia 1 [RCV000582314]|X-linked agammaglobulinemia [RCV000012130]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001061773]|not provided [RCV000378493] ChrX:101356060 [GRCh38]
ChrX:100611048 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1559G>A (p.Arg520Gln) single nucleotide variant X-linked agammaglobulinemia [RCV000012131]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000637056] ChrX:101356059 [GRCh38]
ChrX:100611047 [GRCh37]
ChrX:Xq22.1
pathogenic
BTK, 1-BP DEL, 1720A deletion X-linked agammaglobulinemia [RCV000012132] ChrX:Xq21.3-q22 pathogenic
BTK, 4-BP DEL, CODON 527, GTTT deletion X-linked agammaglobulinemia [RCV000012133] ChrX:Xq21.3-q22 pathogenic
NM_000061.2(BTK):c.1625T>C (p.Leu542Pro) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000012134]|none provided [RCV001289856] ChrX:101354636 [GRCh38]
ChrX:100609624 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|uncertain significance
NM_000061.2(BTK):c.1631+1G>T single nucleotide variant X-linked agammaglobulinemia [RCV000012135] ChrX:101354629 [GRCh38]
ChrX:100609617 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1684C>T (p.Arg562Trp) single nucleotide variant Autosomal recessive agammaglobulinemia 1 [RCV000581337]|X-linked agammaglobulinemia [RCV000012136]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000816209] ChrX:101353936 [GRCh38]
ChrX:100608924 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1741T>C (p.Trp581Arg) single nucleotide variant X-linked agammaglobulinemia [RCV000012137] ChrX:101353879 [GRCh38]
ChrX:100608867 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1766A>G (p.Glu589Gly) single nucleotide variant X-linked agammaglobulinemia [RCV000012138] ChrX:101353336 [GRCh38]
ChrX:100608324 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter) single nucleotide variant X-linked agammaglobulinemia [RCV000012139] ChrX:101353329 [GRCh38]
ChrX:100608317 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000061.2(BTK):c.1820C>A (p.Ala607Asp) single nucleotide variant X-linked agammaglobulinemia [RCV000012140] ChrX:101353282 [GRCh38]
ChrX:100608270 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1838G>A (p.Gly613Asp) single nucleotide variant X-linked agammaglobulinemia [RCV000012141] ChrX:101353264 [GRCh38]
ChrX:100608252 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1889T>A (p.Met630Lys) single nucleotide variant X-linked agammaglobulinemia [RCV000012142] ChrX:101353213 [GRCh38]
ChrX:100608201 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1906G>T (p.Glu636Ter) single nucleotide variant X-linked agammaglobulinemia [RCV000012143] ChrX:101353196 [GRCh38]
ChrX:100608184 [GRCh37]
ChrX:Xq22.1
pathogenic
BTK, 6-BP INS, NT2041 insertion X-linked agammaglobulinemia [RCV000012144] ChrX:Xq21.3-q22 pathogenic
NM_000061.2(BTK):c.1955T>C (p.Leu652Pro) single nucleotide variant X-linked agammaglobulinemia [RCV000012145] ChrX:101349910 [GRCh38]
ChrX:100604898 [GRCh37]
ChrX:Xq22.1
pathogenic
BTK, 26-BP INS, NT2019 insertion X-linked agammaglobulinemia [RCV000012146] ChrX:Xq21.3-q22 pathogenic
NM_000061.2(BTK):c.1685G>C (p.Arg562Pro) single nucleotide variant X-linked agammaglobulinemia [RCV000012147]|not provided [RCV000485427] ChrX:101353935 [GRCh38]
ChrX:100608923 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.642_643del (p.Ser214fs) deletion X-linked agammaglobulinemia [RCV000012148] ChrX:101360701..101360702 [GRCh38]
ChrX:100615689..100615690 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.-31+5G>A single nucleotide variant X-linked agammaglobulinemia [RCV000012149] ChrX:101386057 [GRCh38]
ChrX:100641045 [GRCh37]
ChrX:Xq22.1
pathogenic
BTK, 6.1-KB DEL deletion X-linked agammaglobulinemia [RCV000012150] ChrX:Xq21.3-q22 pathogenic
NM_000061.2(BTK):c.309+731G>A single nucleotide variant Lung cancer [RCV000102119] ChrX:101370902 [GRCh38]
ChrX:100625890 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.-30-5174C>T single nucleotide variant Lung cancer [RCV000102120] ChrX:101380488 [GRCh38]
ChrX:100635476 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 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 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq22.1(chrX:101323599-101596196)x1 copy number loss See cases [RCV000051714] ChrX:101323599..101596196 [GRCh38]
ChrX:100465243..100737830 [NCBI36]
ChrX:Xq22.1
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-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 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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3
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 Xq22.1(chrX:101359634-101641294)x2 copy number gain See cases [RCV000054230] ChrX:101359634..101641294 [GRCh38]
ChrX:100501278..100782937 [NCBI36]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.1688G>T (p.Trp563Leu) single nucleotide variant not provided [RCV000657909] ChrX:101353932 [GRCh38]
ChrX:100608920 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000061.2(BTK):c.1909-9T>C single nucleotide variant X-linked agammaglobulinemia [RCV001167166]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000637057]|not specified [RCV000175387] ChrX:101349965 [GRCh38]
ChrX:100604953 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
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-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 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 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 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 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(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 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 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 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
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 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3
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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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 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: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 Xq22.1(chrX:100861647-101426591)x2 copy number gain See cases [RCV000143738] ChrX:100861647..101426591 [GRCh38]
ChrX:100116636..100681579 [GRCh37]
ChrX:100003292..100568235 [NCBI36]
ChrX:Xq22.1
uncertain significance
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
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
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
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) single nucleotide variant X-linked agammaglobulinemia [RCV000356123]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001085757]|not provided [RCV000515112]|not specified [RCV000308563] ChrX:101360729 [GRCh38]
ChrX:100615717 [GRCh37]
ChrX:Xq22.1
benign|likely benign
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_000061.2(BTK):c.141+11C>T single nucleotide variant X-linked agammaglobulinemia [RCV000266994]|X-linked agammaglobulinemia [RCV000660378]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000380244]|not provided [RCV000224614]|not specified [RCV000445094] ChrX:101375133 [GRCh38]
ChrX:100630121 [GRCh37]
ChrX:Xq22.1
benign|likely benign|uncertain significance
NM_000061.2(BTK):c.707G>A (p.Arg236Gln) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000556448] ChrX:101360637 [GRCh38]
ChrX:100615625 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_000061.2(BTK):c.307C>T (p.Gln103Ter) single nucleotide variant not provided [RCV000255735] ChrX:101371635 [GRCh38]
ChrX:100626623 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1760T>C (p.Met587Thr) single nucleotide variant not provided [RCV000255772] ChrX:101353342 [GRCh38]
ChrX:100608330 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.1899C>T (p.Cys633=) single nucleotide variant X-linked agammaglobulinemia [RCV000407074]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000343690]|not specified [RCV000254181] ChrX:101353203 [GRCh38]
ChrX:100608191 [GRCh37]
ChrX:Xq22.1
benign
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000061.2(BTK):c.1632-2A>G single nucleotide variant not provided [RCV000255954] ChrX:101353990 [GRCh38]
ChrX:100608978 [GRCh37]
ChrX:Xq22.1
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
NM_000061.2(BTK):c.520+15C>T single nucleotide variant X-linked agammaglobulinemia [RCV000265905]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000320999] ChrX:101362546 [GRCh38]
ChrX:100617534 [GRCh37]
ChrX:Xq22.1
benign|uncertain significance
NM_000061.2(BTK):c.852A>G (p.Lys284=) single nucleotide variant X-linked agammaglobulinemia [RCV000260615]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000369368] ChrX:101359335 [GRCh38]
ChrX:100614323 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.954T>C (p.Ser318=) single nucleotide variant X-linked agammaglobulinemia [RCV000308577]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000528107]|none provided [RCV001001739] ChrX:101358637 [GRCh38]
ChrX:100613625 [GRCh37]
ChrX:Xq22.1
benign
NM_000061.2(BTK):c.1573C>T (p.Arg525Ter) single nucleotide variant not provided [RCV000267626] ChrX:101354688 [GRCh38]
ChrX:100609676 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.142-8C>T single nucleotide variant not provided [RCV000340012] ChrX:101374642 [GRCh38]
ChrX:100629630 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001287344.1(BTK):c.*334_*335TG[4] microsatellite Isolated growth hormone deficiency [RCV000276267]|X-linked agammaglobulinemia [RCV000317410] ChrX:101349542..101349543 [GRCh38]
ChrX:100604530..100604531 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000061.2(BTK):c.*342T>G single nucleotide variant X-linked agammaglobulinemia [RCV000371943]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000282023] ChrX:101349543 [GRCh38]
ChrX:100604531 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_000061.2(BTK):c.215dup (p.Asn72fs) duplication X-linked agammaglobulinemia [RCV000781189]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000811748]|not provided [RCV000317789] ChrX:101374560..101374561 [GRCh38]
ChrX:100629548..100629549 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.*192G>A single nucleotide variant X-linked agammaglobulinemia [RCV000283042]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000342738] ChrX:101349693 [GRCh38]
ChrX:100604681 [GRCh37]
ChrX:Xq22.1
benign
NM_000061.2(BTK):c.-105G>T single nucleotide variant X-linked agammaglobulinemia [RCV000326670]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000381316] ChrX:101386136 [GRCh38]
ChrX:100641124 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.*116A>C single nucleotide variant X-linked agammaglobulinemia [RCV000407071]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000289032] ChrX:101349769 [GRCh38]
ChrX:100604757 [GRCh37]
ChrX:Xq22.1
benign
NM_000061.2(BTK):c.469C>T (p.Gln157Ter) single nucleotide variant not provided [RCV000386074] ChrX:101362612 [GRCh38]
ChrX:100617600 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.895-10G>A single nucleotide variant X-linked agammaglobulinemia [RCV000405337]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000314569] ChrX:101358706 [GRCh38]
ChrX:100613694 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000061.2(BTK):c.*334T>G single nucleotide variant X-linked agammaglobulinemia [RCV000318456]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000377727] ChrX:101349551 [GRCh38]
ChrX:100604539 [GRCh37]
ChrX:Xq22.1
benign
NM_000061.2(BTK):c.164C>A (p.Ser55Ter) single nucleotide variant X-linked agammaglobulinemia [RCV000589435] ChrX:101374612 [GRCh38]
ChrX:100629600 [GRCh37]
ChrX:Xq22.1
likely 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_000061.2(BTK):c.359T>C (p.Leu120Pro) single nucleotide variant not provided [RCV000523318] ChrX:101370030 [GRCh38]
ChrX:100625018 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.1978T>G (p.Ter660Gly) single nucleotide variant not provided [RCV000489889] ChrX:101349887 [GRCh38]
ChrX:100604875 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.352del (p.Glu118fs) deletion not provided [RCV001269533] ChrX:101370037 [GRCh38]
ChrX:100625025 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.1699G>T (p.Glu567Ter) single nucleotide variant not provided [RCV001269825] ChrX:101353921 [GRCh38]
ChrX:100608909 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.240+7A>C single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000637058] ChrX:101374529 [GRCh38]
ChrX:100629517 [GRCh37]
ChrX:Xq22.1
benign
NM_000061.2(BTK):c.894+7G>A single nucleotide variant not provided [RCV000290503] ChrX:101359286 [GRCh38]
ChrX:100614274 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.953C>T (p.Ser318Phe) single nucleotide variant Autosomal recessive agammaglobulinemia 1 [RCV000582158] ChrX:101358638 [GRCh38]
ChrX:100613626 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1946del (p.Ser649fs) deletion Autosomal recessive agammaglobulinemia 1 [RCV000584073] ChrX:101349919 [GRCh38]
ChrX:100604907 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1630_1631+3delinsGAAA indel Autosomal recessive agammaglobulinemia 1 [RCV000584147] ChrX:101354627..101354631 [GRCh38]
ChrX:100609615..100609619 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1489C>T (p.Gln497Ter) single nucleotide variant not provided [RCV000598965] ChrX:101356129 [GRCh38]
ChrX:100611117 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1706T>C (p.Leu569Pro) single nucleotide variant Autosomal recessive agammaglobulinemia 1 [RCV000582836] ChrX:101353914 [GRCh38]
ChrX:100608902 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.371G>A (p.Trp124Ter) single nucleotide variant Autosomal recessive agammaglobulinemia 1 [RCV000584393]|X-linked agammaglobulinemia [RCV000586376] ChrX:101370018 [GRCh38]
ChrX:100625006 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000061.2(BTK):c.863G>A (p.Arg288Gln) single nucleotide variant Autosomal recessive agammaglobulinemia 1 [RCV000584540]|X-linked agammaglobulinemia [RCV001192716]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000690161]|not provided [RCV000657848]|not specified [RCV001001062] ChrX:101359324 [GRCh38]
ChrX:100614312 [GRCh37]
ChrX:Xq22.1
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000061.2(BTK):c.*101del deletion not provided [RCV000589288] ChrX:101349784 [GRCh38]
ChrX:100604772 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.1581_1584del (p.Cys527fs) deletion Autosomal recessive agammaglobulinemia 1 [RCV000582912]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000637053]|not provided [RCV001008113] ChrX:101354677..101354680 [GRCh38]
ChrX:100609665..100609668 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.680del (p.Pro227fs) deletion X-linked agammaglobulinemia with growth hormone deficiency [RCV000806263] ChrX:101360664 [GRCh38]
ChrX:100615652 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.161del (p.Gly54fs) deletion Autosomal recessive agammaglobulinemia 1 [RCV000583173] ChrX:101374615 [GRCh38]
ChrX:100629603 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1475G>A (p.Arg492His) single nucleotide variant Autosomal recessive agammaglobulinemia 1 [RCV000581533] ChrX:101356143 [GRCh38]
ChrX:100611131 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.1116G>C (p.Arg372Ser) single nucleotide variant Autosomal recessive agammaglobulinemia 1 [RCV000583457] ChrX:101357570 [GRCh38]
ChrX:100612558 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.799_806del (p.Asn267fs) deletion X-linked agammaglobulinemia [RCV000589843] ChrX:101360121..101360128 [GRCh38]
ChrX:100615109..100615116 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.1567-2A>T single nucleotide variant Autosomal recessive agammaglobulinemia 1 [RCV000583545] ChrX:101354696 [GRCh38]
ChrX:100609684 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.141+3_141+6del deletion Autosomal recessive agammaglobulinemia 1 [RCV000581927] ChrX:101375138..101375141 [GRCh38]
ChrX:100630126..100630129 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.435C>A (p.Cys145Ter) single nucleotide variant Autosomal recessive agammaglobulinemia 1 [RCV000582068] ChrX:101362646 [GRCh38]
ChrX:100617634 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.720A>C (p.Glu240Asp) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000534777] ChrX:101360624 [GRCh38]
ChrX:100615612 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.1064T>A (p.Ile355Asn) single nucleotide variant not provided [RCV000413395] ChrX:101358348 [GRCh38]
ChrX:100613336 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1103G>A (p.Gly368Glu) single nucleotide variant not provided [RCV000414003] ChrX:101357583 [GRCh38]
ChrX:100612571 [GRCh37]
ChrX:Xq22.1
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 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: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 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1(chrX:100598538-100615055)x1 copy number loss See cases [RCV000446423] ChrX:100598538..100615055 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
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
NM_000061.3(BTK):c.1442G>C single nucleotide variant Breast neoplasm [RCV000430045]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001243610]|not provided [RCV001269707]|not specified [RCV000781188] ChrX:101356176 [GRCh38]
ChrX:100611164 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|uncertain significance
NM_000061.2(BTK):c.121G>A (p.Glu41Lys) single nucleotide variant Agammaglobulinemia [RCV000439020] ChrX:101375164 [GRCh38]
ChrX:100630152 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.669T>A (p.Tyr223Ter) single nucleotide variant not provided [RCV000424404] ChrX:101360675 [GRCh38]
ChrX:100615663 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.41C>A (p.Ser14Tyr) single nucleotide variant not provided [RCV000425259] ChrX:101375244 [GRCh38]
ChrX:100630232 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.370T>C (p.Trp124Arg) single nucleotide variant not provided [RCV000427390] ChrX:101370019 [GRCh38]
ChrX:100625007 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.1805C>T (p.Thr602Ile) single nucleotide variant not provided [RCV000432214] ChrX:101353297 [GRCh38]
ChrX:100608285 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.1580G>C (p.Cys527Ser) single nucleotide variant not provided [RCV000435923] ChrX:101354681 [GRCh38]
ChrX:100609669 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.1441T>A single nucleotide variant Breast neoplasm [RCV000437223]|Chronic lymphocytic leukemia [RCV000420001]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001243609]|not provided [RCV001269602] ChrX:101356177 [GRCh38]
ChrX:100611165 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000061.2(BTK):c.1697C>T (p.Pro566Leu) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000798428]|not provided [RCV000438550] ChrX:101353923 [GRCh38]
ChrX:100608911 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_000061.2(BTK):c.1823A>G (p.Glu608Gly) single nucleotide variant not provided [RCV000437470] ChrX:101353279 [GRCh38]
ChrX:100608267 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001287344.1(BTK):c.1005_1007AGG[1] (p.Gly337del) microsatellite not provided [RCV000481731] ChrX:101358683..101358685 [GRCh38]
ChrX:100613671..100613673 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.1888A>C (p.Met630Leu) single nucleotide variant not provided [RCV000484290] ChrX:101353214 [GRCh38]
ChrX:100608202 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.1185G>A (p.Trp395Ter) single nucleotide variant not provided [RCV000485824] ChrX:101356948 [GRCh38]
ChrX:100611936 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1757T>C (p.Leu586Ser) single nucleotide variant not provided [RCV000486283] ChrX:101353345 [GRCh38]
ChrX:100608333 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.-4448A>G single nucleotide variant not specified [RCV000456065] ChrX:101390479 [GRCh38]
ChrX:100645467 [GRCh37]
ChrX:Xq22.1
benign
NM_000061.2(BTK):c.894+1G>A single nucleotide variant not provided [RCV000480016] ChrX:101359292 [GRCh38]
ChrX:100614280 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_000061.2(BTK):c.1771del (p.Tyr591fs) deletion not provided [RCV000498434] ChrX:101353331 [GRCh38]
ChrX:100608319 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.1791A>G (p.Pro597=) single nucleotide variant not specified [RCV000508312] ChrX:101353311 [GRCh38]
ChrX:100608299 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000061.2(BTK):c.-31+5G>T single nucleotide variant not provided [RCV000493738] ChrX:101386057 [GRCh38]
ChrX:100641045 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
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 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000061.2(BTK):c.1780G>A (p.Gly594Arg) single nucleotide variant not specified [RCV000507546] ChrX:101353322 [GRCh38]
ChrX:100608310 [GRCh37]
ChrX:Xq22.1
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:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [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 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000061.2(BTK):c.531T>C (p.Pro177=) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000637054] ChrX:101362230 [GRCh38]
ChrX:100617218 [GRCh37]
ChrX:Xq22.1
benign
NM_000061.2(BTK):c.588+2T>A single nucleotide variant X-linked agammaglobulinemia [RCV000587879] ChrX:101362171 [GRCh38]
ChrX:100617159 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.1492C>G (p.Leu498Val) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000637055] ChrX:101356126 [GRCh38]
ChrX:100611114 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.1558C>G (p.Arg520Gly) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000637052] ChrX:101356060 [GRCh38]
ChrX:100611048 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3 copy number gain not provided [RCV000585467] ChrX:99742359..100759773 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.46C>T (p.Gln16Ter) single nucleotide variant not provided [RCV000627328] ChrX:101375239 [GRCh38]
ChrX:100630227 [GRCh37]
ChrX:Xq22.1
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 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.31-28(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
NM_000061.2(BTK):c.1567-12_1567-9del deletion X-linked agammaglobulinemia with growth hormone deficiency [RCV000686515] ChrX:101354703..101354706 [GRCh38]
ChrX:100609691..100609694 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.1526T>C (p.Met509Thr) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000692851] ChrX:101356092 [GRCh38]
ChrX:100611080 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1688G>A (p.Trp563Ter) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000702940] ChrX:101353932 [GRCh38]
ChrX:100608920 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1578C>A (p.Asn526Lys) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000700307] ChrX:101354683 [GRCh38]
ChrX:100609671 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.278C>A (p.Ser93Ter) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000703916] ChrX:101371664 [GRCh38]
ChrX:100626652 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.736G>C (p.Glu246Gln) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000694949] ChrX:101360608 [GRCh38]
ChrX:100615596 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.580G>A (p.Glu194Lys) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000696204] ChrX:101362181 [GRCh38]
ChrX:100617169 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.390C>T (p.Asn130=) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000694646] ChrX:101369999 [GRCh38]
ChrX:100624987 [GRCh37]
ChrX:Xq22.1
uncertain significance
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)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000061.3(BTK):c.1844G>T (p.Arg615Leu) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001061157] ChrX:101353258 [GRCh38]
ChrX:100608246 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.846T>C (p.Tyr282=) single nucleotide variant not provided [RCV000925827] ChrX:101359341 [GRCh38]
ChrX:100614329 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000061.2(BTK):c.1004T>A (p.Val335Asp) single nucleotide variant X-linked agammaglobulinemia [RCV000757938] ChrX:101358408 [GRCh38]
ChrX:100613396 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.441del (p.Phe146_Trp147insTer) deletion X-linked agammaglobulinemia with growth hormone deficiency [RCV001046699] ChrX:101362640 [GRCh38]
ChrX:100617628 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.1720T>C (p.Phe574Leu) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001046707] ChrX:101353900 [GRCh38]
ChrX:100608888 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.1868C>T (p.Ser623Leu) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001042408] ChrX:101353234 [GRCh38]
ChrX:100608222 [GRCh37]
ChrX:Xq22.1
uncertain significance
NC_000023.11:g.(?_101362153)_(101362709_?)dup duplication X-linked agammaglobulinemia with growth hormone deficiency [RCV001032734] ChrX:100617141..100617697 [GRCh37]
ChrX:Xq22.1
pathogenic
NC_000023.11:g.(?_101353174)_(101358716_?)dup duplication X-linked agammaglobulinemia with growth hormone deficiency [RCV001033543] ChrX:100608162..100613704 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1(chrX:100183898-100809683)x4 copy number gain not provided [RCV000996091] ChrX:100183898..100809683 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.588+1G>T single nucleotide variant X-linked agammaglobulinemia [RCV000780071]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001039149] ChrX:101362172 [GRCh38]
ChrX:100617160 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000061.3(BTK):c.176_178AGA[1] (p.Lys60del) microsatellite X-linked agammaglobulinemia [RCV000780070]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000810868] ChrX:101374595..101374597 [GRCh38]
ChrX:100629583..100629585 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_000061.2(BTK):c.1138C>T (p.Gln380Ter) single nucleotide variant X-linked agammaglobulinemia [RCV000780074]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001055303] ChrX:101357548 [GRCh38]
ChrX:100612536 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000061.2(BTK):c.1852A>G (p.Arg618Gly) single nucleotide variant not specified [RCV000781190] ChrX:101353250 [GRCh38]
ChrX:100608238 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.310-8C>A single nucleotide variant not specified [RCV000781191] ChrX:101370087 [GRCh38]
ChrX:100625075 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.655del (p.Val219fs) deletion X-linked agammaglobulinemia [RCV000780073] ChrX:101360689 [GRCh38]
ChrX:100615677 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1701A>C (p.Glu567Asp) single nucleotide variant not provided [RCV000788437] ChrX:101353919 [GRCh38]
ChrX:100608907 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.142-205A>G single nucleotide variant not provided [RCV000788918] ChrX:101374839 [GRCh38]
ChrX:100629827 [GRCh37]
ChrX:Xq22.1
likely 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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000061.3(BTK):c.1737C>T (p.Asp579=) single nucleotide variant not provided [RCV000978912] ChrX:101353883 [GRCh38]
ChrX:100608871 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000061.3(BTK):c.1701A>G (p.Glu567=) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000898782] ChrX:101353919 [GRCh38]
ChrX:100608907 [GRCh37]
ChrX:Xq22.1
benign
NM_000061.3(BTK):c.363G>A (p.Arg121=) single nucleotide variant not provided [RCV000978084] ChrX:101370026 [GRCh38]
ChrX:100625014 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000061.3(BTK):c.345C>T (p.Ser115=) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000893433] ChrX:101370044 [GRCh38]
ChrX:100625032 [GRCh37]
ChrX:Xq22.1
benign
NM_000061.3(BTK):c.63A>G (p.Ser21=) single nucleotide variant not provided [RCV000897785] ChrX:101375222 [GRCh38]
ChrX:100630210 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000061.2(BTK):c.240G>A (p.Pro80=) single nucleotide variant Inherited Immunodeficiency Diseases [RCV001027548]|X-linked agammaglobulinemia [RCV000780072] ChrX:101374536 [GRCh38]
ChrX:100629524 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.1759A>C (p.Met587Leu) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000810388] ChrX:101353343 [GRCh38]
ChrX:100608331 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.756G>A (p.Trp252Ter) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000799583] ChrX:101360588 [GRCh38]
ChrX:100615576 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1262G>A (p.Trp421Ter) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000816130] ChrX:101356871 [GRCh38]
ChrX:100611859 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1697C>G (p.Pro566Arg) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000801257] ChrX:101353923 [GRCh38]
ChrX:100608911 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1039G>C (p.Ala347Pro) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000803305] ChrX:101358373 [GRCh38]
ChrX:100613361 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.41C>T (p.Ser14Phe) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000795113] ChrX:101375244 [GRCh38]
ChrX:100630232 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.1751-1G>C single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000798381] ChrX:101353352 [GRCh38]
ChrX:100608340 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001287344.1(BTK):c.1813_1814TA[3] (p.Ser606fs) microsatellite X-linked agammaglobulinemia with growth hormone deficiency [RCV000801871] ChrX:101353905..101353906 [GRCh38]
ChrX:100608893..100608894 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.232C>T (p.Gln78Ter) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000814965] ChrX:101374544 [GRCh38]
ChrX:100629532 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1743G>T (p.Trp581Cys) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000798798] ChrX:101353877 [GRCh38]
ChrX:100608865 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.493T>C (p.Cys165Arg) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000798950] ChrX:101362588 [GRCh38]
ChrX:100617576 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.1321G>T (p.Glu441Ter) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000813201] ChrX:101356812 [GRCh38]
ChrX:100611800 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.270del (p.Glu90fs) deletion X-linked agammaglobulinemia with growth hormone deficiency [RCV000795926] ChrX:101371672 [GRCh38]
ChrX:100626660 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1513G>T (p.Val505Phe) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000813278] ChrX:101356105 [GRCh38]
ChrX:100611093 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_000061.2(BTK):c.32T>C (p.Leu11Pro) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000806755] ChrX:101375253 [GRCh38]
ChrX:100630241 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.1843C>T (p.Arg615Cys) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000812568]|not provided [RCV000788744] ChrX:101353259 [GRCh38]
ChrX:100608247 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.1573C>G (p.Arg525Gly) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000820887] ChrX:101354688 [GRCh38]
ChrX:100609676 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.1229C>T (p.Thr410Ile) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000818098] ChrX:101356904 [GRCh38]
ChrX:100611892 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000061.2(BTK):c.777-1G>A single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000801814] ChrX:101360151 [GRCh38]
ChrX:100615139 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.36G>T (p.Lys12Asn) single nucleotide variant X-linked agammaglobulinemia [RCV000990919] ChrX:101375249 [GRCh38]
ChrX:100630237 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.1606A>G (p.Lys536Glu) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000805943] ChrX:101354655 [GRCh38]
ChrX:100609643 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99858358-100772721)x2 copy number gain not provided [RCV000846413] ChrX:99858358..100772721 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.1977C>T (p.Ser659=) single nucleotide variant X-linked agammaglobulinemia [RCV001167164]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001167165] ChrX:101349888 [GRCh38]
ChrX:100604876 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.1696C>T (p.Pro566Ser) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000824301] ChrX:101353924 [GRCh38]
ChrX:100608912 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.564del (p.Pro190fs) deletion X-linked agammaglobulinemia with growth hormone deficiency [RCV000824441] ChrX:101362197 [GRCh38]
ChrX:100617185 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1763G>A (p.Trp588Ter) single nucleotide variant X-linked agammaglobulinemia [RCV000990916]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000799270] ChrX:101353339 [GRCh38]
ChrX:100608327 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.1349+4A>T single nucleotide variant not provided [RCV000788272] ChrX:101356780 [GRCh38]
ChrX:100611768 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.2(BTK):c.1774T>C (p.Ser592Pro) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000819610] ChrX:101353328 [GRCh38]
ChrX:100608316 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.1252T>C (p.Tyr418His) single nucleotide variant X-linked agammaglobulinemia [RCV000990917]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000914387] ChrX:101356881 [GRCh38]
ChrX:100611869 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_000061.2(BTK):c.1546C>T (p.Gln516Ter) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000799991] ChrX:101356072 [GRCh38]
ChrX:100611060 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.2(BTK):c.163T>C (p.Ser55Pro) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000809057] ChrX:101374613 [GRCh38]
ChrX:100629601 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.2(BTK):c.577G>C (p.Glu193Gln) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000823320] ChrX:101362184 [GRCh38]
ChrX:100617172 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.721dup (p.Tyr241fs) duplication X-linked agammaglobulinemia [RCV000990918] ChrX:101360622..101360623 [GRCh38]
ChrX:100615610..100615611 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.100G>A (p.Val34Met) single nucleotide variant X-linked agammaglobulinemia [RCV001169612]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001169613] ChrX:101375185 [GRCh38]
ChrX:100630173 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.*221G>T single nucleotide variant X-linked agammaglobulinemia [RCV001165567]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001165566] ChrX:101349664 [GRCh38]
ChrX:100604652 [GRCh37]
ChrX:Xq22.1
benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000061.3(BTK):c.1747T>G (p.Phe583Val) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001057292] ChrX:101353873 [GRCh38]
ChrX:100608861 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.1901G>C (p.Trp634Ser) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001057527] ChrX:101353201 [GRCh38]
ChrX:100608189 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_000061.3(BTK):c.895-37_928del deletion X-linked agammaglobulinemia with growth hormone deficiency [RCV001234551] ChrX:101358663..101358733 [GRCh38]
ChrX:100613651..100613721 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.319G>T (p.Asp107Tyr) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001218381] ChrX:101370070 [GRCh38]
ChrX:100625058 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_000061.3(BTK):c.300T>A (p.Tyr100Ter) single nucleotide variant X-linked agammaglobulinemia [RCV001250190] ChrX:101371642 [GRCh38]
ChrX:100626630 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.465C>A (p.Cys155Ter) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001212558] ChrX:101362616 [GRCh38]
ChrX:100617604 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.310-7G>A single nucleotide variant not provided [RCV000931690] ChrX:101370086 [GRCh38]
ChrX:100625074 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000061.3(BTK):c.1590C>T (p.Asn530=) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV000908543] ChrX:101354671 [GRCh38]
ChrX:100609659 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000061.3(BTK):c.1746T>C (p.Ala582=) single nucleotide variant not provided [RCV000961244] ChrX:101353874 [GRCh38]
ChrX:100608862 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000061.3(BTK):c.1164A>G (p.Ala388=) single nucleotide variant not provided [RCV000941714] ChrX:101357522 [GRCh38]
ChrX:100612510 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000061.3(BTK):c.521-1G>A single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001210457] ChrX:101362241 [GRCh38]
ChrX:100617229 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.1350-1G>A single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001203420] ChrX:101356269 [GRCh38]
ChrX:100611257 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.884T>C (p.Leu295Pro) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001245402] ChrX:101359303 [GRCh38]
ChrX:100614291 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.1567-2A>G single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001205797] ChrX:101354696 [GRCh38]
ChrX:100609684 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.895-1G>T single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001243870] ChrX:101358697 [GRCh38]
ChrX:100613685 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.1765G>T (p.Glu589Ter) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001209246] ChrX:101353337 [GRCh38]
ChrX:100608325 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.1176C>T (p.Tyr392=) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001209751] ChrX:101357510 [GRCh38]
ChrX:100612498 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.895-12T>C single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001197880] ChrX:101358708 [GRCh38]
ChrX:100613696 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.573G>A (p.Thr191=) single nucleotide variant not provided [RCV000935649] ChrX:101362188 [GRCh38]
ChrX:100617176 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000061.3(BTK):c.1784dup (p.Met596fs) duplication X-linked agammaglobulinemia [RCV000990915] ChrX:101353317..101353318 [GRCh38]
ChrX:100608305..100608306 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000061.3(BTK):c.1103-2A>G single nucleotide variant not specified [RCV001001214] ChrX:101357585 [GRCh38]
ChrX:100612573 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.1889T>C (p.Met630Thr) single nucleotide variant X-linked agammaglobulinemia [RCV001194091] ChrX:101353213 [GRCh38]
ChrX:100608201 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter) single nucleotide variant X-linked agammaglobulinemia [RCV001192717] ChrX:101353907 [GRCh38]
ChrX:100608895 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.806del (p.Val269fs) deletion X-linked agammaglobulinemia [RCV001192718]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001244642] ChrX:101360121 [GRCh38]
ChrX:100615109 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000061.3(BTK):c.1249A>T (p.Lys417Ter) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001053798] ChrX:101356884 [GRCh38]
ChrX:100611872 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.294C>A (p.Phe98Leu) single nucleotide variant not specified [RCV001175466] ChrX:101371648 [GRCh38]
ChrX:100626636 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.484_500del (p.Ala162fs) deletion not specified [RCV001002076] ChrX:101362581..101362597 [GRCh38]
ChrX:100617569..100617585 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.1632-3C>A single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001063966] ChrX:101353991 [GRCh38]
ChrX:100608979 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99910467-100704219)x2 copy number gain not provided [RCV001007327] ChrX:99910467..100704219 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.1358C>T (p.Ser453Phe) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001064611] ChrX:101356260 [GRCh38]
ChrX:100611248 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.-87C>T single nucleotide variant X-linked agammaglobulinemia [RCV001169614]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001169615] ChrX:101386118 [GRCh38]
ChrX:100641106 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.1631+2T>C single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001047903] ChrX:101354628 [GRCh38]
ChrX:100609616 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.1751G>A (p.Gly584Glu) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001062111] ChrX:101353351 [GRCh38]
ChrX:100608339 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.1580G>A (p.Cys527Tyr) single nucleotide variant Inherited Immunodeficiency Diseases [RCV001027547] ChrX:101354681 [GRCh38]
ChrX:100609669 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.764G>A (p.Arg255Gln) single nucleotide variant Inherited Immunodeficiency Diseases [RCV001027552] ChrX:101360580 [GRCh38]
ChrX:100615568 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.496C>T (p.Gln166Ter) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001230353] ChrX:101362585 [GRCh38]
ChrX:100617573 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.-31+1G>A single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001212868] ChrX:101386061 [GRCh38]
ChrX:100641049 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.3G>A (p.Met1Ile) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001070338] ChrX:101375282 [GRCh38]
ChrX:100630270 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.334T>C (p.Tyr112His) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001041939] ChrX:101370055 [GRCh38]
ChrX:100625043 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.980C>T (p.Pro327Leu) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001236999] ChrX:101358432 [GRCh38]
ChrX:100613420 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.1418T>A (p.Ile473Asn) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001035842] ChrX:101356200 [GRCh38]
ChrX:100611188 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.141+5G>C single nucleotide variant not specified [RCV001174856] ChrX:101375139 [GRCh38]
ChrX:100630127 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.82C>T (p.Arg28Cys) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001217971] ChrX:101375203 [GRCh38]
ChrX:100630191 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.167T>C (p.Ile56Thr) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001235566] ChrX:101374609 [GRCh38]
ChrX:100629597 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.1328T>C (p.Ile443Thr) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001231977] ChrX:101356805 [GRCh38]
ChrX:100611793 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.837T>A (p.Tyr279Ter) single nucleotide variant Inherited Immunodeficiency Diseases [RCV001027551] ChrX:101360090 [GRCh38]
ChrX:100615078 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.1300_1909-813del deletion X-linked agammaglobulinemia with growth hormone deficiency [RCV001037029] ChrX:101350769..101356833 [GRCh38]
ChrX:100605757..100611821 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001287344.1(BTK):c.63C>T (p.Ser21=) single nucleotide variant not specified [RCV001001886] ChrX:101390487 [GRCh38]
ChrX:100645475 [GRCh37]
ChrX:Xq22.1
benign
NM_000061.3(BTK):c.336C>G (p.Tyr112Ter) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001211890] ChrX:101370053 [GRCh38]
ChrX:100625041 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.1631+5G>C single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001064751] ChrX:101354625 [GRCh38]
ChrX:100609613 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.867T>A (p.Ser289Arg) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001215240] ChrX:101359320 [GRCh38]
ChrX:100614308 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.216T>G (p.Asn72Lys) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001203879] ChrX:101374560 [GRCh38]
ChrX:100629548 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.*390G>A single nucleotide variant X-linked agammaglobulinemia [RCV001253960]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001253982] ChrX:101349495 [GRCh38]
ChrX:100604483 [GRCh37]
ChrX:Xq22.1
uncertain significance
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 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000061.3(BTK):c.1932C>G (p.Phe644Leu) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001352189] ChrX:101349933 [GRCh38]
ChrX:100604921 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.367C>T (p.Arg123Trp) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001307025] ChrX:101370022 [GRCh38]
ChrX:100625010 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000061.3(BTK):c.1445T>C (p.Leu482Pro) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001342007] ChrX:101356173 [GRCh38]
ChrX:100611161 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.1775C>A (p.Ser592Tyr) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001298997] ChrX:101353327 [GRCh38]
ChrX:100608315 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.134_139del (p.Glu45_Arg46del) deletion X-linked agammaglobulinemia with growth hormone deficiency [RCV001334183] ChrX:101375146..101375151 [GRCh38]
ChrX:100630134..100630139 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.1106T>C (p.Leu369Pro) single nucleotide variant not provided [RCV001311090] ChrX:101357580 [GRCh38]
ChrX:100612568 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000061.3(BTK):c.934G>C (p.Ala312Pro) single nucleotide variant X-linked agammaglobulinemia with growth hormone deficiency [RCV001326510] ChrX:101358657 [GRCh38]
ChrX:100613645 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000061.3(BTK):c.1381dup (p.Tyr461fs) duplication not provided [RCV001269822] ChrX:101356236..101356237 [GRCh38]
ChrX:100611224..100611225 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000061.3(BTK):c.1922G>A (p.Arg641His) single nucleotide variant not provided [RCV001269826] ChrX:101349943 [GRCh38]
ChrX:100604931 [GRCh37]
ChrX:Xq22.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1133 AgrOrtholog
COSMIC BTK COSMIC
Ensembl Genes ENSG00000010671 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000308176 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361971 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000479125 UniProtKB/TrEMBL
  ENSP00000483570 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000308731 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372880 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000618050 UniProtKB/TrEMBL
  ENST00000621635 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.505.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000010671 GTEx
HGNC ID HGNC:1133 ENTREZGENE
Human Proteome Map BTK Human Proteome Map
InterPro BMX UniProtKB/TrEMBL
  BTK_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain 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/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_Btk_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 695 ENTREZGENE
OMIM 300300 OMIM
  300755 OMIM
  307200 OMIM
PANTHER PTHR24418:SF91 UniProtKB/TrEMBL
Pfam BTK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25454 PharmGKB
PRINTS SH2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TECBTKDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_BTK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BTK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt BTK_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q572P0_HUMAN UniProtKB/TrEMBL
  Q572P1_HUMAN UniProtKB/TrEMBL
  Q572P2_HUMAN UniProtKB/TrEMBL
  Q572P3_HUMAN UniProtKB/TrEMBL
  Q572P4_HUMAN UniProtKB/TrEMBL
  Q572P5_HUMAN UniProtKB/TrEMBL
  Q5JY90 ENTREZGENE, UniProtKB/TrEMBL
  U3NG26_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RAW1 UniProtKB/Swiss-Prot
  E9PEJ2 UniProtKB/TrEMBL
  Q32ML5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-05 BTK  Bruton tyrosine kinase  BTK  Bruton agammaglobulinemia tyrosine kinase  Symbol and/or name change 5135510 APPROVED