TYK2 (tyrosine kinase 2) - Rat Genome Database

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Gene: TYK2 (tyrosine kinase 2) Homo sapiens
Analyze
Symbol: TYK2
Name: tyrosine kinase 2
RGD ID: 1316192
HGNC Page HGNC
Description: Exhibits growth hormone receptor binding activity and protein tyrosine kinase activity. Predicted to be involved in cytokine-mediated signaling pathway and protein phosphorylation. Localizes to cytoplasm and nucleus. Implicated in immunodeficiency 35.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: IMD35; JTK1; non-receptor tyrosine-protein kinase TYK2
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
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1910,350,529 - 10,380,572 (-)EnsemblGRCh38hg38GRCh38
GRCh381910,350,528 - 10,380,572 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371910,461,209 - 10,491,248 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,322,209 - 10,352,211 (-)NCBINCBI36hg18NCBI36
Build 341910,322,208 - 10,352,211NCBI
Celera1910,356,496 - 10,385,954 (-)NCBI
Cytogenetic Map19p13.2NCBI
HuRef1910,041,213 - 10,071,290 (-)NCBIHuRef
CHM1_11910,461,760 - 10,491,969 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Additional References at PubMed
PMID:1386289   PMID:2156206   PMID:2216457   PMID:2247464   PMID:7510216   PMID:7526154   PMID:7543024   PMID:7579387   PMID:7589562   PMID:7629131   PMID:7657660   PMID:7690989  
PMID:8125298   PMID:8232552   PMID:8432525   PMID:8550573   PMID:8605877   PMID:8609418   PMID:8657151   PMID:8702790   PMID:8780698   PMID:9038232   PMID:9108397   PMID:9196040  
PMID:9305869   PMID:9342324   PMID:9374471   PMID:9388212   PMID:9417082   PMID:9484840   PMID:9519782   PMID:9633884   PMID:9733772   PMID:9794795   PMID:9822675   PMID:9974409  
PMID:10409622   PMID:10502458   PMID:10523853   PMID:10531356   PMID:10542297   PMID:10673353   PMID:10899310   PMID:10918587   PMID:10933219   PMID:10954736   PMID:10995743   PMID:11201744  
PMID:11294897   PMID:11399767   PMID:11430697   PMID:11694501   PMID:11839738   PMID:12207328   PMID:12477932   PMID:12554654   PMID:12637327   PMID:12719789   PMID:12817007   PMID:12960323  
PMID:14500680   PMID:15277531   PMID:15322115   PMID:15337770   PMID:15356134   PMID:15489334   PMID:15657875   PMID:15883164   PMID:15944400   PMID:16239216   PMID:16344560   PMID:16551269  
PMID:17011030   PMID:17290288   PMID:17384181   PMID:17548050   PMID:17599733   PMID:17703412   PMID:17877826   PMID:17920038   PMID:17937105   PMID:18029348   PMID:18270328   PMID:18456658  
PMID:18474601   PMID:19249008   PMID:19254804   PMID:19258923   PMID:19293837   PMID:19423540   PMID:19434718   PMID:19440814   PMID:19464057   PMID:19525955   PMID:19567624   PMID:19653082  
PMID:19717292   PMID:19730683   PMID:19758313   PMID:19865102   PMID:19888296   PMID:19966805   PMID:20065083   PMID:20197570   PMID:20406964   PMID:20438785   PMID:20458337   PMID:20478313  
PMID:20503287   PMID:20588308   PMID:20628624   PMID:20727854   PMID:20953190   PMID:21102463   PMID:21140222   PMID:21178271   PMID:21196586   PMID:21354972   PMID:21471442   PMID:21516116  
PMID:21757742   PMID:21829393   PMID:21833088   PMID:21900206   PMID:21949722   PMID:22046141   PMID:22087225   PMID:22116632   PMID:22486643   PMID:22506826   PMID:22592861   PMID:22658674  
PMID:22744673   PMID:22939624   PMID:22961000   PMID:23000200   PMID:23128233   PMID:23359498   PMID:23408403   PMID:23471820   PMID:23894201   PMID:24043623   PMID:24390342   PMID:24654603  
PMID:24704786   PMID:24812289   PMID:24833526   PMID:24843152   PMID:25156366   PMID:25349176   PMID:25416956   PMID:25744728   PMID:25762719   PMID:25849893   PMID:25852190   PMID:26175413  
PMID:26186194   PMID:26239055   PMID:26288847   PMID:26294277   PMID:26338038   PMID:26359499   PMID:26496610   PMID:26631911   PMID:26885983   PMID:26972000   PMID:26980740   PMID:27189703  
PMID:27733777   PMID:27807284   PMID:27875628   PMID:28319085   PMID:28496097   PMID:28514442   PMID:28611215   PMID:28675297   PMID:28716895   PMID:28846454   PMID:29162862   PMID:29304122  
PMID:29674694   PMID:29725107   PMID:29892012   PMID:29991678   PMID:30131584   PMID:30578352   PMID:30740104   PMID:30940648   PMID:31038024   PMID:31068474   PMID:31434951   PMID:31536960  
PMID:31713088   PMID:31753913   PMID:31961910   PMID:32062451   PMID:32167874   PMID:32296183   PMID:32707200   PMID:32918875   PMID:33667394  


Genomics

Comparative Map Data
TYK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1910,350,529 - 10,380,572 (-)EnsemblGRCh38hg38GRCh38
GRCh381910,350,528 - 10,380,572 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371910,461,209 - 10,491,248 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,322,209 - 10,352,211 (-)NCBINCBI36hg18NCBI36
Build 341910,322,208 - 10,352,211NCBI
Celera1910,356,496 - 10,385,954 (-)NCBI
Cytogenetic Map19p13.2NCBI
HuRef1910,041,213 - 10,071,290 (-)NCBIHuRef
CHM1_11910,461,760 - 10,491,969 (-)NCBICHM1_1
Tyk2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39921,015,364 - 21,042,689 (-)NCBIGRCm39mm39
GRCm39 Ensembl921,015,364 - 21,042,539 (-)Ensembl
GRCm38921,104,068 - 21,131,393 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl921,104,068 - 21,131,243 (-)EnsemblGRCm38mm10GRCm38
MGSCv37920,908,512 - 20,935,719 (-)NCBIGRCm37mm9NCBIm37
MGSCv36920,854,476 - 20,881,612 (-)NCBImm8
Celera918,372,782 - 18,399,989 (-)NCBICelera
Cytogenetic Map9A3NCBI
Tyk2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2819,641,881 - 19,667,157 (-)NCBI
Rnor_6.0 Ensembl822,124,560 - 22,150,005 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0822,118,224 - 22,149,807 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0822,180,760 - 22,205,979 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4820,096,969 - 20,149,004 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1820,128,873 - 20,148,992 (-)NCBI
Celera821,036,299 - 21,057,402 (-)NCBICelera
Cytogenetic Map8q13NCBI
Tyk2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554951,617,999 - 1,636,068 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554951,618,099 - 1,637,996 (-)NCBIChiLan1.0ChiLan1.0
TYK2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11910,565,490 - 10,596,647 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1910,565,490 - 10,594,541 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0199,901,612 - 9,932,623 (-)NCBIMhudiblu_PPA_v0panPan3
TYK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12050,747,145 - 50,770,008 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2050,748,329 - 50,769,216 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2050,617,718 - 50,639,776 (+)NCBI
ROS_Cfam_1.02051,269,592 - 51,291,659 (+)NCBI
UMICH_Zoey_3.12050,475,504 - 50,497,770 (+)NCBI
UNSW_CanFamBas_1.02050,904,500 - 50,926,568 (+)NCBI
UU_Cfam_GSD_1.02051,145,386 - 51,167,670 (+)NCBI
Tyk2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118209,650,169 - 209,673,217 (+)NCBI
SpeTri2.0NW_004936659681,463 - 704,484 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TYK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl269,157,799 - 69,183,461 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1269,157,774 - 69,183,555 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2269,492,135 - 69,517,888 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TYK2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.169,399,945 - 9,420,054 (-)NCBI
ChlSab1.1 Ensembl69,399,775 - 9,417,630 (-)Ensembl
Tyk2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248282,499,811 - 2,518,817 (-)NCBI

Position Markers
RH70299  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,461,327 - 10,461,443UniSTSGRCh37
Build 361910,322,327 - 10,322,443RGDNCBI36
Celera1910,356,619 - 10,356,735RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,041,336 - 10,041,452UniSTS
GeneMap99-GB4 RH Map1975.45UniSTS
TYK2_8702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,461,086 - 10,461,644UniSTSGRCh37
Build 361910,322,086 - 10,322,644RGDNCBI36
Celera1910,356,378 - 10,356,936RGD
HuRef1910,041,095 - 10,041,653UniSTS
WI-7649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,461,204 - 10,461,484UniSTSGRCh37
Build 361910,322,204 - 10,322,484RGDNCBI36
Celera1910,356,496 - 10,356,776RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,041,213 - 10,041,493UniSTS
GeneMap99-GB4 RH Map1974.7UniSTS
Whitehead-RH Map1950.2UniSTS
STS-X54637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,461,291 - 10,461,418UniSTSGRCh37
Build 361910,322,291 - 10,322,418RGDNCBI36
Celera1910,356,583 - 10,356,710RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,041,300 - 10,041,427UniSTS
GeneMap99-GB4 RH Map1967.91UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6581
Count of miRNA genes:1100
Interacting mature miRNAs:1416
Transcripts:ENST00000264818, ENST00000524462, ENST00000524470, ENST00000525220, ENST00000525621, ENST00000525824, ENST00000525976, ENST00000527481, ENST00000529317, ENST00000529370, ENST00000529412, ENST00000529422, ENST00000529739, ENST00000530220, ENST00000530560, ENST00000530829, ENST00000531620, ENST00000531836, ENST00000533334, ENST00000534228, ENST00000592137
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2427 2804 1705 607 1928 449 4241 1947 3148 406 1398 1602 171 1204 2688 3
Low 12 187 21 17 23 16 115 250 586 13 62 11 4 1 100 3 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY549314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR995139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA864169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264818   ⟹   ENSP00000264818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,350,529 - 10,378,508 (-)Ensembl
RefSeq Acc Id: ENST00000524462   ⟹   ENSP00000433203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,350,533 - 10,380,565 (-)Ensembl
RefSeq Acc Id: ENST00000524470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,350,853 - 10,351,285 (-)Ensembl
RefSeq Acc Id: ENST00000525220   ⟹   ENSP00000434931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,362,580 - 10,365,863 (-)Ensembl
RefSeq Acc Id: ENST00000525621   ⟹   ENSP00000431885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,350,533 - 10,380,572 (-)Ensembl
RefSeq Acc Id: ENST00000525824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,368,122 - 10,368,741 (-)Ensembl
RefSeq Acc Id: ENST00000525976   ⟹   ENSP00000434831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,350,533 - 10,352,492 (-)Ensembl
RefSeq Acc Id: ENST00000527481   ⟹   ENSP00000466340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,350,947 - 10,354,522 (-)Ensembl
RefSeq Acc Id: ENST00000529317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,368,063 - 10,368,539 (-)Ensembl
RefSeq Acc Id: ENST00000529370   ⟹   ENSP00000432728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,357,385 - 10,380,525 (-)Ensembl
RefSeq Acc Id: ENST00000529412
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,353,911 - 10,357,901 (-)Ensembl
RefSeq Acc Id: ENST00000529422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,350,788 - 10,353,137 (-)Ensembl
RefSeq Acc Id: ENST00000529739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,352,434 - 10,354,078 (-)Ensembl
RefSeq Acc Id: ENST00000530220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,350,533 - 10,353,256 (-)Ensembl
RefSeq Acc Id: ENST00000530560   ⟹   ENSP00000465291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,350,748 - 10,356,613 (-)Ensembl
RefSeq Acc Id: ENST00000530829   ⟹   ENSP00000436826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,368,329 - 10,380,510 (-)Ensembl
RefSeq Acc Id: ENST00000531620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,361,305 - 10,362,183 (-)Ensembl
RefSeq Acc Id: ENST00000531836   ⟹   ENSP00000436175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,368,164 - 10,380,572 (-)Ensembl
RefSeq Acc Id: ENST00000533334   ⟹   ENSP00000432320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,357,794 - 10,361,905 (-)Ensembl
RefSeq Acc Id: ENST00000534228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,354,538 - 10,357,084 (-)Ensembl
RefSeq Acc Id: ENST00000592137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1910,351,421 - 10,354,103 (-)Ensembl
RefSeq Acc Id: NM_001385197   ⟹   NP_001372126
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
RefSeq Acc Id: NM_001385198   ⟹   NP_001372127
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
RefSeq Acc Id: NM_001385199   ⟹   NP_001372128
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
RefSeq Acc Id: NM_001385200   ⟹   NP_001372129
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
RefSeq Acc Id: NM_001385201   ⟹   NP_001372130
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
RefSeq Acc Id: NM_001385202   ⟹   NP_001372131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
RefSeq Acc Id: NM_001385203   ⟹   NP_001372132
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
RefSeq Acc Id: NM_001385204   ⟹   NP_001372133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
RefSeq Acc Id: NM_001385205   ⟹   NP_001372134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
RefSeq Acc Id: NM_001385206   ⟹   NP_001372135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
RefSeq Acc Id: NM_001385207   ⟹   NP_001372136
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
RefSeq Acc Id: NM_003331   ⟹   NP_003322
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
GRCh371910,461,204 - 10,491,248 (-)ENTREZGENE
GRCh371910,461,204 - 10,491,248 (-)NCBI
Build 361910,322,209 - 10,352,211 (-)NCBI Archive
HuRef1910,041,213 - 10,071,290 (-)ENTREZGENE
CHM1_11910,461,760 - 10,491,969 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528245   ⟹   XP_011526547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,528 - 10,380,572 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528246   ⟹   XP_011526548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,528 - 10,378,288 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528247   ⟹   XP_011526549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,528 - 10,369,839 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528249   ⟹   XP_011526551
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,528 - 10,364,289 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528251   ⟹   XP_011526553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,528 - 10,364,980 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001753750
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,528 - 10,379,751 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001753751
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,528 - 10,379,751 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001753752
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,357,876 - 10,379,751 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958353
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,528 - 10,379,751 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003322   ⟸   NM_003331
- Peptide Label: isoform 2
- UniProtKB: P29597 (UniProtKB/Swiss-Prot),   A0A024R7E4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011526547   ⟸   XM_011528245
- Peptide Label: isoform X1
- UniProtKB: P29597 (UniProtKB/Swiss-Prot),   A0A024R7E4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011526548   ⟸   XM_011528246
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011526549   ⟸   XM_011528247
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011526553   ⟸   XM_011528251
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011526551   ⟸   XM_011528249
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000465291   ⟸   ENST00000530560
RefSeq Acc Id: ENSP00000436826   ⟸   ENST00000530829
RefSeq Acc Id: ENSP00000436175   ⟸   ENST00000531836
RefSeq Acc Id: ENSP00000432320   ⟸   ENST00000533334
RefSeq Acc Id: ENSP00000433203   ⟸   ENST00000524462
RefSeq Acc Id: ENSP00000434831   ⟸   ENST00000525976
RefSeq Acc Id: ENSP00000434931   ⟸   ENST00000525220
RefSeq Acc Id: ENSP00000431885   ⟸   ENST00000525621
RefSeq Acc Id: ENSP00000466340   ⟸   ENST00000527481
RefSeq Acc Id: ENSP00000264818   ⟸   ENST00000264818
RefSeq Acc Id: ENSP00000432728   ⟸   ENST00000529370
RefSeq Acc Id: NP_001372128   ⟸   NM_001385199
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001372134   ⟸   NM_001385205
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001372130   ⟸   NM_001385201
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001372135   ⟸   NM_001385206
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001372136   ⟸   NM_001385207
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001372131   ⟸   NM_001385202
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001372129   ⟸   NM_001385200
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001372127   ⟸   NM_001385198
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001372126   ⟸   NM_001385197
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001372132   ⟸   NM_001385203
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001372133   ⟸   NM_001385204
- Peptide Label: isoform 1
Protein Domains
FERM   FERM_F2   Jak1_Phl   Pkinase_Tyr   Protein kinase   SH2

Promoters
RGD ID:6811804
Promoter ID:HG_ACW:39840
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:TYK2.IAPR07,   TYK2.NAPR07,   TYK2.OAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361910,325,199 - 10,325,699 (-)MPROMDB
RGD ID:6796151
Promoter ID:HG_KWN:28850
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:NM_003331,   UC002MOD.2,   UC010DXE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361910,352,109 - 10,352,609 (-)MPROMDB
RGD ID:7238491
Promoter ID:EPDNEW_H24991
Type:multiple initiation site
Name:TYK2_2
Description:tyrosine kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24992  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,368,126 - 10,368,186EPDNEW
RGD ID:7238493
Promoter ID:EPDNEW_H24992
Type:initiation region
Name:TYK2_1
Description:tyrosine kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24991  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,380,568 - 10,380,628EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003331.5(TYK2):c.3261C>T (p.Phe1087=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000547509] Chr19:10352491 [GRCh38]
Chr19:10463167 [GRCh37]
Chr19:19p13.2
likely benign
TYK2, 4-BP DEL, 550GCTT deletion Tyrosine kinase 2 deficiency [RCV000014228] Chr19:19p13.2 pathogenic
NM_003331.5(TYK2):c.311G>A (p.Arg104His) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001301373]|not provided [RCV000522191] Chr19:10368301 [GRCh38]
Chr19:10478977 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
NM_003331.5(TYK2):c.2359G>A (p.Gly787Arg) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001067332] Chr19:10357871 [GRCh38]
Chr19:10468547 [GRCh37]
Chr19:10329547 [NCBI36]
Chr19:19p13.2
uncertain significance|not provided
NM_003331.4(TYK2):c.399C>T (p.Ser133=) single nucleotide variant Malignant melanoma [RCV000071918] Chr19:10368121 [GRCh38]
Chr19:10478797 [GRCh37]
Chr19:10339797 [NCBI36]
Chr19:19p13.2
not provided
NM_003331.4(TYK2):c.398C>T (p.Ser133Phe) single nucleotide variant Malignant melanoma [RCV000071919] Chr19:10368122 [GRCh38]
Chr19:10478798 [GRCh37]
Chr19:10339798 [NCBI36]
Chr19:19p13.2
not provided
NM_003331.4(TYK2):c.231C>T (p.Phe77=) single nucleotide variant Malignant melanoma [RCV000071920] Chr19:10368381 [GRCh38]
Chr19:10479057 [GRCh37]
Chr19:10340057 [NCBI36]
Chr19:19p13.2
not provided
NM_003331.5(TYK2):c.516C>T (p.Thr172=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000280944]|not specified [RCV000126189] Chr19:10366530 [GRCh38]
Chr19:10477206 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.1087G>A (p.Gly363Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000362720]|not specified [RCV000126190] Chr19:10364973 [GRCh38]
Chr19:10475649 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.1477-6T>C single nucleotide variant Tyrosine kinase 2 deficiency [RCV000398417]|not specified [RCV000126191] Chr19:10362462 [GRCh38]
Chr19:10473138 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.1774-4G>C single nucleotide variant Tyrosine kinase 2 deficiency [RCV000551642]|not specified [RCV000126192] Chr19:10361959 [GRCh38]
Chr19:10472635 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.2176-18C>G single nucleotide variant not specified [RCV000126193] Chr19:10358156 [GRCh38]
Chr19:10468832 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.2311+11G>C single nucleotide variant Tyrosine kinase 2 deficiency [RCV000329556]|not specified [RCV000126194] Chr19:10357992 [GRCh38]
Chr19:10468668 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000528354]|not specified [RCV000126195] Chr19:10352442 [GRCh38]
Chr19:10463118 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.2303_2311del (p.Ser768_Glu771delinsTer) deletion Tyrosine kinase 2 deficiency [RCV000144052] Chr19:10358003..10358011 [GRCh38]
Chr19:10468679..10468687 [GRCh37]
Chr19:19p13.2
pathogenic
GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1 copy number loss See cases [RCV000135403] Chr19:9735443..11228001 [GRCh38]
Chr19:9846119..11338677 [GRCh37]
Chr19:9707119..11199677 [NCBI36]
Chr19:19p13.2
pathogenic
GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3 copy number gain See cases [RCV000136738] Chr19:10156406..10889688 [GRCh38]
Chr19:10267082..11000364 [GRCh37]
Chr19:10128082..10861364 [NCBI36]
Chr19:19p13.2
pathogenic
GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1 copy number loss See cases [RCV000141708] Chr19:10330655..10920552 [GRCh38]
Chr19:10441331..11031228 [GRCh37]
Chr19:10302331..10892228 [NCBI36]
Chr19:19p13.2
likely pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
NM_003331.5(TYK2):c.1282G>A (p.Ala428Thr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000545896] Chr19:10364699 [GRCh38]
Chr19:10475375 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.209_212del (p.Cys70fs) deletion Tyrosine kinase 2 deficiency [RCV000014228]|not provided [RCV000519417] Chr19:10368400..10368403 [GRCh38]
Chr19:10479076..10479079 [GRCh37]
Chr19:19p13.2
pathogenic
NM_003331.5(TYK2):c.3488A>G (p.Glu1163Gly) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000553570]|not specified [RCV000603506] Chr19:10350910 [GRCh38]
Chr19:10461586 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.149del (p.Ser50fs) deletion Tyrosine kinase 2 deficiency [RCV000210451] Chr19:10378258 [GRCh38]
Chr19:10488934 [GRCh37]
Chr19:19p13.2
pathogenic
NM_003331.4(TYK2):c.3318_3319insC insertion Tyrosine kinase 2 deficiency [RCV000210458] Chr19:19p13.2 pathogenic
NM_003331.5(TYK2):c.1912C>T (p.Arg638Ter) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000210459] Chr19:10361817 [GRCh38]
Chr19:10472493 [GRCh37]
Chr19:19p13.2
pathogenic
NM_003331.5(TYK2):c.460G>T (p.Glu154Ter) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000210466] Chr19:10368060 [GRCh38]
Chr19:10478736 [GRCh37]
Chr19:19p13.2
pathogenic
NM_003331.5(TYK2):c.2371_2376del (p.Leu791_Ser792del) deletion not specified [RCV000238730] Chr19:10357854..10357859 [GRCh38]
Chr19:10468530..10468535 [GRCh37]
Chr19:19p13.2
likely pathogenic|uncertain significance
NM_003331.5(TYK2):c.2003C>T (p.Thr668Met) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000803839]|not specified [RCV000239218] Chr19:10361555 [GRCh38]
Chr19:10472231 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.124C>A (p.Pro42Thr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000800934]|not provided [RCV000519745] Chr19:10378283 [GRCh38]
Chr19:10488959 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000333160]|not specified [RCV000242212] Chr19:10359299 [GRCh38]
Chr19:10469975 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.1084G>T (p.Val362Phe) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000272963]|not specified [RCV000245153] Chr19:10364976 [GRCh38]
Chr19:10475652 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.588C>A (p.Leu196=) single nucleotide variant not specified [RCV000247501] Chr19:10366458 [GRCh38]
Chr19:10477134 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.805C>T (p.Arg269Cys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000797605]|not provided [RCV000521414] Chr19:10365723 [GRCh38]
Chr19:10476399 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1669+7T>C single nucleotide variant Tyrosine kinase 2 deficiency [RCV000394899]|not specified [RCV000245301] Chr19:10362257 [GRCh38]
Chr19:10472933 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.1953C>T (p.Ile651=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000550852]|not specified [RCV000250458] Chr19:10361776 [GRCh38]
Chr19:10472452 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.3201-8C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV000953748]|not specified [RCV000250544] Chr19:10352559 [GRCh38]
Chr19:10463235 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.1559G>A (p.Gly520Asp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000558284] Chr19:10362374 [GRCh38]
Chr19:10473050 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.114C>A (p.Gly38=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645238] Chr19:10378293 [GRCh38]
Chr19:10488969 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.2441C>T (p.Pro814Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645231] Chr19:10357789 [GRCh38]
Chr19:10468465 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.879C>T (p.Ile293=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000273757] Chr19:10365649 [GRCh38]
Chr19:10476325 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.-378A>G single nucleotide variant Tyrosine kinase 2 deficiency [RCV000276486]|Virus-induced diabetes [RCV000508940] Chr19:10380572 [GRCh38]
Chr19:10491248 [GRCh37]
Chr19:19p13.2
benign|uncertain significance
NM_003331.5(TYK2):c.2107C>T (p.Arg703Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645244] Chr19:10359243 [GRCh38]
Chr19:10469919 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.630-3C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV001041736] Chr19:10365901 [GRCh38]
Chr19:10476577 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2985C>T (p.Ile995=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000902163] Chr19:10353570 [GRCh38]
Chr19:10464246 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.1534G>A (p.Gly512Arg) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000343272] Chr19:10362399 [GRCh38]
Chr19:10473075 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_003331.5(TYK2):c.1141C>T (p.Arg381Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000537655] Chr19:10364919 [GRCh38]
Chr19:10475595 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.2658G>A (p.Ala886=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000321160] Chr19:10354569 [GRCh38]
Chr19:10465245 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2618-14C>G single nucleotide variant Tyrosine kinase 2 deficiency [RCV000359734] Chr19:10354623 [GRCh38]
Chr19:10465299 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.-21+7T>G single nucleotide variant Tyrosine kinase 2 deficiency [RCV000394166]|not specified [RCV000424343] Chr19:10379608 [GRCh38]
Chr19:10490284 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.1807G>A (p.Val603Met) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000527931] Chr19:10361922 [GRCh38]
Chr19:10472598 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.-132T>C single nucleotide variant Tyrosine kinase 2 deficiency [RCV000347381] Chr19:10379726 [GRCh38]
Chr19:10490402 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.942C>T (p.His314=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000554922]|not specified [RCV000441384] Chr19:10365586 [GRCh38]
Chr19:10476262 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.1806C>T (p.Asn602=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000282468] Chr19:10361923 [GRCh38]
Chr19:10472599 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.590G>A (p.Arg197His) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000542285]|not specified [RCV000430674] Chr19:10366456 [GRCh38]
Chr19:10477132 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.193+14G>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV000376075]|not specified [RCV000613009] Chr19:10378200 [GRCh38]
Chr19:10488876 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001085272]|not provided [RCV000513917]|not specified [RCV000284384] Chr19:10354167 [GRCh38]
Chr19:10464843 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.2017G>T (p.Val673Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645230] Chr19:10361541 [GRCh38]
Chr19:10472217 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3239A>G (p.Tyr1080Cys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000357031] Chr19:10352513 [GRCh38]
Chr19:10463189 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2124G>A (p.Met708Ile) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000381768] Chr19:10359226 [GRCh38]
Chr19:10469902 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1848T>G (p.Pro616=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000535821]|not specified [RCV000434683] Chr19:10361881 [GRCh38]
Chr19:10472557 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.1869C>T (p.Asp623=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000908955] Chr19:10361860 [GRCh38]
Chr19:10472536 [GRCh37]
Chr19:19p13.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.44T>C (p.Val15Ala) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001082832]|not provided [RCV000482893] Chr19:10378363 [GRCh38]
Chr19:10489039 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.*134A>G single nucleotide variant Tyrosine kinase 2 deficiency [RCV000397916] Chr19:10350700 [GRCh38]
Chr19:10461376 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.602C>T (p.Pro201Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000316044] Chr19:10366444 [GRCh38]
Chr19:10477120 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2716-10T>G single nucleotide variant Tyrosine kinase 2 deficiency [RCV000539590]|not specified [RCV000440000] Chr19:10354244 [GRCh38]
Chr19:10464920 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.-151T>G single nucleotide variant Tyrosine kinase 2 deficiency [RCV000402049] Chr19:10379745 [GRCh38]
Chr19:10490421 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.513G>A (p.Ser171=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000529566]|not specified [RCV000427435] Chr19:10366533 [GRCh38]
Chr19:10477209 [GRCh37]
Chr19:19p13.2
benign|likely benign|uncertain significance
NM_003331.5(TYK2):c.661C>T (p.Arg221Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000387955] Chr19:10365867 [GRCh38]
Chr19:10476543 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.*199A>G single nucleotide variant Tyrosine kinase 2 deficiency [RCV000349065] Chr19:10350635 [GRCh38]
Chr19:10461311 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_003331.5(TYK2):c.2715+9C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV000268341] Chr19:10354503 [GRCh38]
Chr19:10465179 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1444C>G (p.Arg482Gly) single nucleotide variant not provided [RCV000489138] Chr19:10362581 [GRCh38]
Chr19:10473257 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3388C>T (p.Arg1130Ter) single nucleotide variant not provided [RCV000489725] Chr19:10351093 [GRCh38]
Chr19:10461769 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_003331.5(TYK2):c.2314C>T (p.Arg772Trp) single nucleotide variant not provided [RCV000489934] Chr19:10357916 [GRCh38]
Chr19:10468592 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1579C>G (p.Arg527Gly) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001307128]|not provided [RCV000520858] Chr19:10362354 [GRCh38]
Chr19:10473030 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.737A>G (p.Gln246Arg) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000333386] Chr19:10365791 [GRCh38]
Chr19:10476467 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.-23C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV000306658] Chr19:10379617 [GRCh38]
Chr19:10490293 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.4(TYK2):c.*302C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV000296536] Chr19:10350532 [GRCh38]
Chr19:10461208 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.-369C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV000370936] Chr19:10380563 [GRCh38]
Chr19:10491239 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1000A>G (p.Asn334Asp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000309308] Chr19:10365528 [GRCh38]
Chr19:10476204 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.-328T>G single nucleotide variant Tyrosine kinase 2 deficiency [RCV000311672] Chr19:10380522 [GRCh38]
Chr19:10491198 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1669+10T>C single nucleotide variant not provided [RCV000931503]|not specified [RCV000605615] Chr19:10362254 [GRCh38]
Chr19:10472930 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.2994C>A (p.Ala998=) single nucleotide variant not provided [RCV000585021] Chr19:10353561 [GRCh38]
Chr19:10464237 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2463C>T (p.Ser821=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000768360] Chr19:10357767 [GRCh38]
Chr19:10468443 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2494C>T (p.Arg832Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001035187]|not specified [RCV000413711] Chr19:10356691 [GRCh38]
Chr19:10467367 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1 copy number loss See cases [RCV000446752] Chr19:10286133..11040457 [GRCh37]
Chr19:19p13.2
pathogenic
NM_003331.5(TYK2):c.2250C>T (p.Gly750=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645237]|not specified [RCV000427255] Chr19:10358064 [GRCh38]
Chr19:10468740 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_003331.5(TYK2):c.2312-4C>G single nucleotide variant not specified [RCV000417774] Chr19:10357922 [GRCh38]
Chr19:10468598 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.1670-19A>G single nucleotide variant not specified [RCV000417775] Chr19:10362200 [GRCh38]
Chr19:10472876 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.2670G>C (p.Thr890=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000526851]|not specified [RCV000418236] Chr19:10354557 [GRCh38]
Chr19:10465233 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity
NM_003331.5(TYK2):c.3330G>A (p.Glu1110=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000540801]|not specified [RCV000424399] Chr19:10351151 [GRCh38]
Chr19:10461827 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.157G>A (p.Ala53Thr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000534611]|not specified [RCV000441975] Chr19:10378250 [GRCh38]
Chr19:10488926 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.1011+20C>T single nucleotide variant not specified [RCV000418311] Chr19:10365497 [GRCh38]
Chr19:10476173 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.708C>T (p.Asn236=) single nucleotide variant not specified [RCV000439071] Chr19:10365820 [GRCh38]
Chr19:10476496 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.2286G>A (p.Val762=) single nucleotide variant not specified [RCV000423076] Chr19:10358028 [GRCh38]
Chr19:10468704 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.1960-15G>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV001125625]|not specified [RCV000444581] Chr19:10361613 [GRCh38]
Chr19:10472289 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.1011+12G>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV001124700]|not specified [RCV000423566] Chr19:10365505 [GRCh38]
Chr19:10476181 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_003331.5(TYK2):c.-316G>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127885]|Virus-induced diabetes [RCV000508700] Chr19:10380510 [GRCh38]
Chr19:10491186 [GRCh37]
Chr19:19p13.2
benign|uncertain significance
NM_003331.4(TYK2):c.-482A>C single nucleotide variant Virus-induced diabetes [RCV000508748] Chr19:10380676 [GRCh38]
Chr19:10491352 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.-317G>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV001125791]|Virus-induced diabetes [RCV000508797] Chr19:10380511 [GRCh38]
Chr19:10491187 [GRCh37]
Chr19:19p13.2
benign|uncertain significance
NM_003331.4(TYK2):c.-1307T>A single nucleotide variant Virus-induced diabetes [RCV000508800] Chr19:10381501 [GRCh38]
Chr19:10492177 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.4(TYK2):c.-1308G>A single nucleotide variant Virus-induced diabetes [RCV000508843] Chr19:10381502 [GRCh38]
Chr19:10492178 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1106C>T (p.Pro369Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000705443]|not provided [RCV000494054] Chr19:10364954 [GRCh38]
Chr19:10475630 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3560G>A (p.Cys1187Tyr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645226] Chr19:10350838 [GRCh38]
Chr19:10461514 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2350C>G (p.Leu784Val) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645234] Chr19:10357880 [GRCh38]
Chr19:10468556 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.783C>G (p.Ala261=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645239] Chr19:10365745 [GRCh38]
Chr19:10476421 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity
NM_003331.5(TYK2):c.1477-6_1477-5delinsCT indel Tyrosine kinase 2 deficiency [RCV000645241] Chr19:10362461..10362462 [GRCh38]
Chr19:10473137..10473138 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.2459C>A (p.Pro820His) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001086746]|not provided [RCV000837112] Chr19:10357771 [GRCh38]
Chr19:10468447 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.486T>C (p.Asn162=) single nucleotide variant not provided [RCV000645243] Chr19:10366560 [GRCh38]
Chr19:10477236 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.3156C>T (p.His1052=) single nucleotide variant not provided [RCV000645246] Chr19:10352970 [GRCh38]
Chr19:10463646 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.777_778delinsTT (p.Tyr259_Leu260=) indel Tyrosine kinase 2 deficiency [RCV000645247] Chr19:10365750..10365751 [GRCh38]
Chr19:10476426..10476427 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.924T>C (p.Ala308=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645248] Chr19:10365604 [GRCh38]
Chr19:10476280 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.647del (p.Pro216fs) deletion not provided [RCV000585248] Chr19:10365881 [GRCh38]
Chr19:10476557 [GRCh37]
Chr19:19p13.2
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_003331.5(TYK2):c.64A>G (p.Met22Val) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645224] Chr19:10378343 [GRCh38]
Chr19:10489019 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_003331.5(TYK2):c.42C>T (p.Pro14=) single nucleotide variant not specified [RCV000612871] Chr19:10378365 [GRCh38]
Chr19:10489041 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.630-12G>A single nucleotide variant not specified [RCV000616683] Chr19:10365910 [GRCh38]
Chr19:10476586 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.3200+3G>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV000972187]|not specified [RCV000608397] Chr19:10352923 [GRCh38]
Chr19:10463599 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_003331.5(TYK2):c.2617+13C>T single nucleotide variant not specified [RCV000614495] Chr19:10356555 [GRCh38]
Chr19:10467231 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.2646G>C (p.Pro882=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127630]|not provided [RCV000933026]|not specified [RCV000609302] Chr19:10354581 [GRCh38]
Chr19:10465257 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_003331.5(TYK2):c.639C>T (p.Asp213=) single nucleotide variant not specified [RCV000605124] Chr19:10365889 [GRCh38]
Chr19:10476565 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.2033T>C (p.Val678Ala) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645225] Chr19:10361525 [GRCh38]
Chr19:10472201 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2506C>T (p.Pro836Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645227] Chr19:10356679 [GRCh38]
Chr19:10467355 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.386_391del (p.Gly129_Thr130del) deletion Tyrosine kinase 2 deficiency [RCV000645228] Chr19:10368129..10368134 [GRCh38]
Chr19:10478805..10478810 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2353C>T (p.Pro785Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645229] Chr19:10357877 [GRCh38]
Chr19:10468553 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2429A>T (p.Asp810Val) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645232] Chr19:10357801 [GRCh38]
Chr19:10468477 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.211T>C (p.Phe71Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645233] Chr19:10368401 [GRCh38]
Chr19:10479077 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.256C>A (p.Pro86Thr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000645235] Chr19:10368356 [GRCh38]
Chr19:10479032 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.810C>T (p.Phe270=) single nucleotide variant not provided [RCV000645240] Chr19:10365718 [GRCh38]
Chr19:10476394 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.2812C>G (p.Pro938Ala) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000700765] Chr19:10354138 [GRCh38]
Chr19:10464814 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1683_1685CAT[2] (p.Ile563del) microsatellite Tyrosine kinase 2 deficiency [RCV000698972] Chr19:10362160..10362162 [GRCh38]
Chr19:10472836..10472838 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2896T>G (p.Cys966Gly) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000698622] Chr19:10354054 [GRCh38]
Chr19:10464730 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3475C>A (p.Arg1159Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000700589] Chr19:10350923 [GRCh38]
Chr19:10461599 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.525G>C (p.Glu175Asp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000698615] Chr19:10366521 [GRCh38]
Chr19:10477197 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.692G>A (p.Arg231Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000685160] Chr19:10365836 [GRCh38]
Chr19:10476512 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1342C>T (p.Arg448Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000704140] Chr19:10364639 [GRCh38]
Chr19:10475315 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.80G>A (p.Gly27Asp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000706784] Chr19:10378327 [GRCh38]
Chr19:10489003 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.589C>T (p.Arg197Cys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000693275] Chr19:10366457 [GRCh38]
Chr19:10477133 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1646G>A (p.Arg549His) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000701097] Chr19:10362287 [GRCh38]
Chr19:10472963 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2974C>A (p.Arg992=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000701797] Chr19:10353581 [GRCh38]
Chr19:10464257 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2534C>T (p.Thr845Ile) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000707091] Chr19:10356651 [GRCh38]
Chr19:10467327 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1486G>A (p.Gly496Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000704767] Chr19:10362447 [GRCh38]
Chr19:10473123 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1228C>T (p.Arg410Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000707349] Chr19:10364753 [GRCh38]
Chr19:10475429 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2909-2A>G single nucleotide variant Tyrosine kinase 2 deficiency [RCV000707428] Chr19:10353648 [GRCh38]
Chr19:10464324 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_003331.5(TYK2):c.43G>T (p.Val15Phe) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000696218] Chr19:10378364 [GRCh38]
Chr19:10489040 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2452C>T (p.Arg818Cys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000703540] Chr19:10357778 [GRCh38]
Chr19:10468454 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1531G>T (p.Asp511Tyr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000703543] Chr19:10362402 [GRCh38]
Chr19:10473078 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.349C>T (p.Pro117Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000701408] Chr19:10368171 [GRCh38]
Chr19:10478847 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_003331.5(TYK2):c.1501C>T (p.Arg501Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001304907]|not provided [RCV000761986] Chr19:10362432 [GRCh38]
Chr19:10473108 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.353G>A (p.Arg118Gln) single nucleotide variant not provided [RCV000761987] Chr19:10368167 [GRCh38]
Chr19:10478843 [GRCh37]
Chr19:19p13.2
likely benign
NC_000019.10:g.(?_10350814)_(10351182_?)dup duplication Tyrosine kinase 2 deficiency [RCV001031998] Chr19:10461490..10461858 [GRCh37]
Chr19:19p13.2
uncertain significance
NC_000019.10:g.(?_10350814)_(10378426_?)dup duplication Tyrosine kinase 2 deficiency [RCV001031630] Chr19:10461490..10489102 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1774-5C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV000981865] Chr19:10361960 [GRCh38]
Chr19:10472636 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.489C>T (p.Asp163=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127810]|not provided [RCV000884943] Chr19:10366557 [GRCh38]
Chr19:10477233 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_003331.5(TYK2):c.957A>G (p.Thr319=) single nucleotide variant not provided [RCV000898559] Chr19:10365571 [GRCh38]
Chr19:10476247 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.648G>A (p.Pro216=) single nucleotide variant Immunodeficiency [RCV000984870]|Tyrosine kinase 2 deficiency [RCV000970668] Chr19:10365880 [GRCh38]
Chr19:10476556 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.1362C>G (p.Pro454=) single nucleotide variant not provided [RCV000920227] Chr19:10364619 [GRCh38]
Chr19:10475295 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.1959+9_1959+10delinsAT indel Tyrosine kinase 2 deficiency [RCV000924148] Chr19:10361760..10361761 [GRCh38]
Chr19:10472436..10472437 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.1959+9G>A single nucleotide variant not provided [RCV000943082] Chr19:10361761 [GRCh38]
Chr19:10472437 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.709G>A (p.Val237Ile) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000921240] Chr19:10365819 [GRCh38]
Chr19:10476495 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.2602C>T (p.Arg868Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001056211] Chr19:10356583 [GRCh38]
Chr19:10467259 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1621G>A (p.Gly541Arg) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001039251] Chr19:10362312 [GRCh38]
Chr19:10472988 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1820G>A (p.Arg607His) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001037347] Chr19:10361909 [GRCh38]
Chr19:10472585 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2453G>A (p.Arg818His) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001057401] Chr19:10357777 [GRCh38]
Chr19:10468453 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2456G>A (p.Ser819Asn) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001054158] Chr19:10357774 [GRCh38]
Chr19:10468450 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3318+6A>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV001036414] Chr19:10352428 [GRCh38]
Chr19:10463104 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1399G>A (p.Glu467Lys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000807477] Chr19:10362626 [GRCh38]
Chr19:10473302 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2026G>A (p.Val676Ile) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000792110] Chr19:10361532 [GRCh38]
Chr19:10472208 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1502G>A (p.Arg501Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001221143]|not provided [RCV000788827] Chr19:10362431 [GRCh38]
Chr19:10473107 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2282G>T (p.Gly761Val) single nucleotide variant not provided [RCV000981696] Chr19:10358032 [GRCh38]
Chr19:10468708 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.409_417dup (p.Thr137_Gln139dup) duplication Tyrosine kinase 2 deficiency [RCV000930697] Chr19:10368102..10368103 [GRCh38]
Chr19:10478778..10478779 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.1401G>A (p.Glu467=) single nucleotide variant not provided [RCV000918145] Chr19:10362624 [GRCh38]
Chr19:10473300 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.2499G>A (p.Leu833=) single nucleotide variant not provided [RCV000942003] Chr19:10356686 [GRCh38]
Chr19:10467362 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.1669+5G>A single nucleotide variant not provided [RCV000920082] Chr19:10362259 [GRCh38]
Chr19:10472935 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.3123C>T (p.Asp1041=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000898601] Chr19:10353003 [GRCh38]
Chr19:10463679 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.2467-171G>A single nucleotide variant not provided [RCV000837286] Chr19:10356889 [GRCh38]
Chr19:10467565 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.3201-177G>T single nucleotide variant not provided [RCV000837307] Chr19:10352728 [GRCh38]
Chr19:10463404 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.284G>A (p.Arg95Lys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000812810] Chr19:10368328 [GRCh38]
Chr19:10479004 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1669+4C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV000797904] Chr19:10362260 [GRCh38]
Chr19:10472936 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1368-59C>T single nucleotide variant not provided [RCV000832568] Chr19:10362716 [GRCh38]
Chr19:10473392 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.2908+31T>C single nucleotide variant not provided [RCV000832569] Chr19:10354011 [GRCh38]
Chr19:10464687 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.3200+122G>C single nucleotide variant not provided [RCV000832570] Chr19:10352804 [GRCh38]
Chr19:10463480 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.2467-270G>A single nucleotide variant not provided [RCV000832972] Chr19:10356988 [GRCh38]
Chr19:10467664 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.1898G>A (p.Arg633His) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000807215] Chr19:10361831 [GRCh38]
Chr19:10472507 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2660C>G (p.Ser887Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000807341] Chr19:10354567 [GRCh38]
Chr19:10465243 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1375T>C (p.Phe459Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000810846] Chr19:10362650 [GRCh38]
Chr19:10473326 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2645C>T (p.Pro882Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000816224] Chr19:10354582 [GRCh38]
Chr19:10465258 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.193+71G>A single nucleotide variant not provided [RCV000838003] Chr19:10378143 [GRCh38]
Chr19:10488819 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.317+26G>A single nucleotide variant not provided [RCV000834580] Chr19:10368269 [GRCh38]
Chr19:10478945 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.2175+95T>C single nucleotide variant not provided [RCV000834581] Chr19:10359080 [GRCh38]
Chr19:10469756 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.670C>T (p.Arg224Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000819655] Chr19:10365858 [GRCh38]
Chr19:10476534 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2664C>A (p.Asp888Glu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000821696] Chr19:10354563 [GRCh38]
Chr19:10465239 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2909-1G>A single nucleotide variant not provided [RCV000996739] Chr19:10353647 [GRCh38]
Chr19:10464323 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_003331.5(TYK2):c.2108G>A (p.Arg703Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000818377] Chr19:10359242 [GRCh38]
Chr19:10469918 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1238C>T (p.Ala413Val) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000803720] Chr19:10364743 [GRCh38]
Chr19:10475419 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1368-331_1368-324del deletion not provided [RCV000828761] Chr19:10362981..10362988 [GRCh38]
Chr19:10473657..10473664 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.850G>A (p.Ala284Thr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000816934] Chr19:10365678 [GRCh38]
Chr19:10476354 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2687A>G (p.Tyr896Cys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000799014] Chr19:10354540 [GRCh38]
Chr19:10465216 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.649C>T (p.Arg217Cys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000811838] Chr19:10365879 [GRCh38]
Chr19:10476555 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1705G>A (p.Ala569Thr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000815793] Chr19:10362146 [GRCh38]
Chr19:10472822 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2653C>A (p.Pro885Thr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000812633] Chr19:10354574 [GRCh38]
Chr19:10465250 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2175+152T>C single nucleotide variant not provided [RCV000834582] Chr19:10359023 [GRCh38]
Chr19:10469699 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.2176-296A>G single nucleotide variant not provided [RCV000834583] Chr19:10358434 [GRCh38]
Chr19:10469110 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.2908+44T>C single nucleotide variant not provided [RCV000834584] Chr19:10353998 [GRCh38]
Chr19:10464674 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.1433G>T (p.Ser478Ile) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000796746] Chr19:10362592 [GRCh38]
Chr19:10473268 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.449A>G (p.Glu150Gly) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000820314] Chr19:10368071 [GRCh38]
Chr19:10478747 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2716-61G>T single nucleotide variant not provided [RCV000835478] Chr19:10354295 [GRCh38]
Chr19:10464971 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.583G>A (p.Ala195Thr) single nucleotide variant not provided [RCV000788828] Chr19:10366463 [GRCh38]
Chr19:10477139 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1249G>A (p.Val417Met) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000808876] Chr19:10364732 [GRCh38]
Chr19:10475408 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.662G>A (p.Arg221Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000824579] Chr19:10365866 [GRCh38]
Chr19:10476542 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1367+185C>T single nucleotide variant not provided [RCV000837293] Chr19:10364429 [GRCh38]
Chr19:10475105 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.2908+156C>A single nucleotide variant not provided [RCV000837319] Chr19:10353886 [GRCh38]
Chr19:10464562 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.2909-152T>C single nucleotide variant not provided [RCV000837320] Chr19:10353798 [GRCh38]
Chr19:10464474 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.437C>T (p.Pro146Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000802854] Chr19:10368083 [GRCh38]
Chr19:10478759 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2230C>T (p.Arg744Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000795020] Chr19:10358084 [GRCh38]
Chr19:10468760 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1694G>A (p.Arg565Gln) single nucleotide variant Immunodeficiency [RCV000984873] Chr19:10362157 [GRCh38]
Chr19:10472833 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2048-315T>C single nucleotide variant not provided [RCV000828767] Chr19:10359617 [GRCh38]
Chr19:10470293 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.794G>A (p.Arg265Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000806809] Chr19:10365734 [GRCh38]
Chr19:10476410 [GRCh37]
Chr19:19p13.2
uncertain significance
NC_000019.10:g.(?_10378194)_(10378426_?)dup duplication Tyrosine kinase 2 deficiency [RCV001031489] Chr19:10488870..10489102 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.34A>G (p.Ser12Gly) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001047343] Chr19:10378373 [GRCh38]
Chr19:10489049 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.466-3C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV001065221] Chr19:10366583 [GRCh38]
Chr19:10477259 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1913G>A (p.Arg638Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000810976] Chr19:10361816 [GRCh38]
Chr19:10472492 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1469G>A (p.Arg490His) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000824553] Chr19:10362556 [GRCh38]
Chr19:10473232 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1643G>A (p.Arg548His) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000815070] Chr19:10362290 [GRCh38]
Chr19:10472966 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.728G>A (p.Arg243Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000798754] Chr19:10365800 [GRCh38]
Chr19:10476476 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1368-237A>C single nucleotide variant not provided [RCV000836634] Chr19:10362894 [GRCh38]
Chr19:10473570 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.809T>C (p.Phe270Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000815669] Chr19:10365719 [GRCh38]
Chr19:10476395 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1019G>A (p.Ser340Asn) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000810845] Chr19:10365041 [GRCh38]
Chr19:10475717 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.793C>T (p.Arg265Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000822817] Chr19:10365735 [GRCh38]
Chr19:10476411 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3318+196T>A single nucleotide variant not provided [RCV000838633] Chr19:10352238 [GRCh38]
Chr19:10462914 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.-20-69G>A single nucleotide variant not provided [RCV000835421] Chr19:10378495 [GRCh38]
Chr19:10489171 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.2500C>T (p.Pro834Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000804141] Chr19:10356685 [GRCh38]
Chr19:10467361 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1236G>A (p.Ala412=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000915925] Chr19:10364745 [GRCh38]
Chr19:10475421 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.317+4G>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV000797941] Chr19:10368291 [GRCh38]
Chr19:10478967 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2047+107A>G single nucleotide variant not provided [RCV000835829] Chr19:10361404 [GRCh38]
Chr19:10472080 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.582C>T (p.Leu194=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000938065] Chr19:10366464 [GRCh38]
Chr19:10477140 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.1663C>T (p.Pro555Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000804641] Chr19:10362270 [GRCh38]
Chr19:10472946 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3315C>A (p.Pro1105=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000920669] Chr19:10352437 [GRCh38]
Chr19:10463113 [GRCh37]
Chr19:19p13.2
likely benign
GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1 copy number loss not provided [RCV000849141] Chr19:10441330..10977962 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1901G>A (p.Gly634Glu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000892926] Chr19:10361828 [GRCh38]
Chr19:10472504 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.36T>G (p.Ser12Arg) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001064932] Chr19:10378371 [GRCh38]
Chr19:10489047 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2077G>A (p.Gly693Arg) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001044644] Chr19:10359273 [GRCh38]
Chr19:10469949 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3532G>A (p.Gly1178Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001067143] Chr19:10350866 [GRCh38]
Chr19:10461542 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1711C>T (p.Pro571Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001046441] Chr19:10362140 [GRCh38]
Chr19:10472816 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.583G>T (p.Ala195Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001214006] Chr19:10366463 [GRCh38]
Chr19:10477139 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2616C>G (p.His872Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001046711] Chr19:10356569 [GRCh38]
Chr19:10467245 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1508G>A (p.Arg503Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001242455] Chr19:10362425 [GRCh38]
Chr19:10473101 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.970A>G (p.Ile324Val) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001234192] Chr19:10365558 [GRCh38]
Chr19:10476234 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3307A>G (p.Ser1103Gly) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001243007] Chr19:10352445 [GRCh38]
Chr19:10463121 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1585C>T (p.Leu529Phe) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001231493] Chr19:10362348 [GRCh38]
Chr19:10473024 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.333C>G (p.Asn111Lys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001209836] Chr19:10368187 [GRCh38]
Chr19:10478863 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3191C>G (p.Pro1064Arg) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001223575] Chr19:10352935 [GRCh38]
Chr19:10463611 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1235C>T (p.Ala412Val) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001209486] Chr19:10364746 [GRCh38]
Chr19:10475422 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2218A>G (p.Ile740Val) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001227195] Chr19:10358096 [GRCh38]
Chr19:10468772 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.580C>T (p.Leu194Phe) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001227196] Chr19:10366466 [GRCh38]
Chr19:10477142 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2041C>T (p.Pro681Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001224408] Chr19:10361517 [GRCh38]
Chr19:10472193 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1819C>T (p.Arg607Cys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001201473] Chr19:10361910 [GRCh38]
Chr19:10472586 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2917T>G (p.Ser973Ala) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001241806] Chr19:10353638 [GRCh38]
Chr19:10464314 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.10C>T (p.Arg4Cys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001241854] Chr19:10378397 [GRCh38]
Chr19:10489073 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.232G>T (p.Asp78Tyr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001210453] Chr19:10368380 [GRCh38]
Chr19:10479056 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1094C>T (p.Pro365Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001248572] Chr19:10364966 [GRCh38]
Chr19:10475642 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1968C>T (p.Tyr656=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001124617] Chr19:10361590 [GRCh38]
Chr19:10472266 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.*260C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127548] Chr19:10350574 [GRCh38]
Chr19:10461250 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.-9G>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV001124799] Chr19:10378415 [GRCh38]
Chr19:10489091 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.-37C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV001124800] Chr19:10379631 [GRCh38]
Chr19:10490307 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.329G>A (p.Arg110Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001122035] Chr19:10368191 [GRCh38]
Chr19:10478867 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.-154A>G single nucleotide variant Tyrosine kinase 2 deficiency [RCV001125790] Chr19:10379748 [GRCh38]
Chr19:10490424 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1394G>A (p.Arg465Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001211836] Chr19:10362631 [GRCh38]
Chr19:10473307 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1108C>T (p.Arg370Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001123632] Chr19:10364952 [GRCh38]
Chr19:10475628 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.261A>G (p.Pro87=) single nucleotide variant not provided [RCV000902918] Chr19:10368351 [GRCh38]
Chr19:10479027 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.194-8T>C single nucleotide variant not provided [RCV000930376] Chr19:10368426 [GRCh38]
Chr19:10479102 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.3489G>A (p.Glu1163=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000908441] Chr19:10350909 [GRCh38]
Chr19:10461585 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.3315C>G (p.Pro1105=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000974696] Chr19:10352437 [GRCh38]
Chr19:10463113 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.1281G>A (p.Thr427=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000974760] Chr19:10364700 [GRCh38]
Chr19:10475376 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.3555C>T (p.Ser1185=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001124523]|not provided [RCV000886241] Chr19:10350843 [GRCh38]
Chr19:10461519 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_003331.5(TYK2):c.2403C>T (p.Gly801=) single nucleotide variant not provided [RCV000910726] Chr19:10357827 [GRCh38]
Chr19:10468503 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.2814C>G (p.Pro938=) single nucleotide variant not provided [RCV000917435] Chr19:10354136 [GRCh38]
Chr19:10464812 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.2175+9C>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV000924580] Chr19:10359166 [GRCh38]
Chr19:10469842 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.3147C>G (p.Pro1049=) single nucleotide variant not provided [RCV000904449] Chr19:10352979 [GRCh38]
Chr19:10463655 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.149C>T (p.Ser50Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001238943] Chr19:10378258 [GRCh38]
Chr19:10488934 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.124C>G (p.Pro42Ala) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001242308] Chr19:10378283 [GRCh38]
Chr19:10488959 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1200C>G (p.Asn400Lys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001050152] Chr19:10364860 [GRCh38]
Chr19:10475536 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2558C>G (p.Pro853Arg) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127631] Chr19:10356627 [GRCh38]
Chr19:10467303 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1669+12G>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127713] Chr19:10362252 [GRCh38]
Chr19:10472928 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1489A>C (p.Met497Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127715] Chr19:10362444 [GRCh38]
Chr19:10473120 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.505G>A (p.Glu169Lys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127807] Chr19:10366541 [GRCh38]
Chr19:10477217 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.498A>G (p.Ser166=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127808] Chr19:10366548 [GRCh38]
Chr19:10477224 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.493G>A (p.Ala165Thr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127809] Chr19:10366553 [GRCh38]
Chr19:10477229 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1082C>T (p.Ala361Val) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001236408] Chr19:10364978 [GRCh38]
Chr19:10475654 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.*174G>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV001123426] Chr19:10350660 [GRCh38]
Chr19:10461336 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.740C>T (p.Pro247Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001051334] Chr19:10365788 [GRCh38]
Chr19:10476464 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2778G>A (p.Met926Ile) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001243665] Chr19:10354172 [GRCh38]
Chr19:10464848 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3525G>A (p.Lys1175=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001124524] Chr19:10350873 [GRCh38]
Chr19:10461549 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.829G>A (p.Val277Met) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001124702] Chr19:10365699 [GRCh38]
Chr19:10476375 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1580G>A (p.Arg527Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001229590] Chr19:10362353 [GRCh38]
Chr19:10473029 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.903A>C (p.Thr301=) single nucleotide variant not provided [RCV000912155] Chr19:10365625 [GRCh38]
Chr19:10476301 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.115G>A (p.Gly39Ser) single nucleotide variant not provided [RCV000911165] Chr19:10378292 [GRCh38]
Chr19:10488968 [GRCh37]
Chr19:19p13.2
likely benign
NM_003331.5(TYK2):c.2716-4C>G single nucleotide variant Tyrosine kinase 2 deficiency [RCV000889366] Chr19:10354238 [GRCh38]
Chr19:10464914 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.1398C>T (p.Pro466=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001123630]|not provided [RCV000912496] Chr19:10362627 [GRCh38]
Chr19:10473303 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_003331.5(TYK2):c.2102G>C (p.Arg701Thr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV000913852] Chr19:10359248 [GRCh38]
Chr19:10469924 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity
NM_003331.5(TYK2):c.3487G>A (p.Glu1163Lys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001124525] Chr19:10350911 [GRCh38]
Chr19:10461587 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2023G>A (p.Gly675Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001124616] Chr19:10361535 [GRCh38]
Chr19:10472211 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2370C>T (p.Ser790=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001123532] Chr19:10357860 [GRCh38]
Chr19:10468536 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1444C>T (p.Arg482Cys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001123629] Chr19:10362581 [GRCh38]
Chr19:10473257 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1839C>T (p.Ser613=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001125627] Chr19:10361890 [GRCh38]
Chr19:10472566 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.975G>T (p.Gln325His) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001124701] Chr19:10365553 [GRCh38]
Chr19:10476229 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2983A>G (p.Ile995Val) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001049974] Chr19:10353572 [GRCh38]
Chr19:10464248 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1851G>A (p.Glu617=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001125626] Chr19:10361878 [GRCh38]
Chr19:10472554 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.*173C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV001123427] Chr19:10350661 [GRCh38]
Chr19:10461337 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.*146T>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV001123428] Chr19:10350688 [GRCh38]
Chr19:10461364 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.*120C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV001123429] Chr19:10350714 [GRCh38]
Chr19:10461390 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.*63G>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV001123430] Chr19:10350771 [GRCh38]
Chr19:10461447 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.*261C>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127547] Chr19:10350573 [GRCh38]
Chr19:10461249 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2197G>A (p.Gly733Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001123533] Chr19:10358117 [GRCh38]
Chr19:10468793 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.*291T>C single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127546] Chr19:10350543 [GRCh38]
Chr19:10461219 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1576G>A (p.Val526Ile) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127714] Chr19:10362357 [GRCh38]
Chr19:10473033 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2176-9C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV001123534] Chr19:10358147 [GRCh38]
Chr19:10468823 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.114C>T (p.Gly38=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001045826] Chr19:10378293 [GRCh38]
Chr19:10488969 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.200C>G (p.Thr67Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001042380] Chr19:10368412 [GRCh38]
Chr19:10479088 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001042442] Chr19:10365837 [GRCh38]
Chr19:10476513 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1548G>A (p.Leu516=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001208586] Chr19:10362385 [GRCh38]
Chr19:10473061 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2036G>C (p.Arg679Pro) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001039676] Chr19:10361522 [GRCh38]
Chr19:10472198 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3236A>G (p.Tyr1079Cys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001124526] Chr19:10352516 [GRCh38]
Chr19:10463192 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2038G>A (p.Gly680Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001124615] Chr19:10361520 [GRCh38]
Chr19:10472196 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2171A>C (p.Tyr724Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001235120] Chr19:10359179 [GRCh38]
Chr19:10469855 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1255C>G (p.Leu419Val) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001206961] Chr19:10364726 [GRCh38]
Chr19:10475402 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1388A>G (p.Lys463Arg) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001232595] Chr19:10362637 [GRCh38]
Chr19:10473313 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.370C>T (p.Arg124Cys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001122034] Chr19:10368150 [GRCh38]
Chr19:10478826 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.-322C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV001125792] Chr19:10380516 [GRCh38]
Chr19:10491192 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1207C>G (p.Leu403Val) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001055706] Chr19:10364853 [GRCh38]
Chr19:10475529 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.658C>T (p.Arg220Cys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001053900] Chr19:10365870 [GRCh38]
Chr19:10476546 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.*19C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV001123431] Chr19:10350815 [GRCh38]
Chr19:10461491 [GRCh37]
Chr19:19p13.2
benign
NM_003331.5(TYK2):c.3011C>G (p.Ala1004Gly) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001064713] Chr19:10353544 [GRCh38]
Chr19:10464220 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1254G>A (p.Ser418=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001123631] Chr19:10364727 [GRCh38]
Chr19:10475403 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2716-13C>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127629] Chr19:10354247 [GRCh38]
Chr19:10464923 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.372T>C (p.Arg124=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001127811] Chr19:10368148 [GRCh38]
Chr19:10478824 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.861G>T (p.Glu287Asp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001210709] Chr19:10365667 [GRCh38]
Chr19:10476343 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1156G>A (p.Val386Met) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001248048] Chr19:10364904 [GRCh38]
Chr19:10475580 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2503G>C (p.Glu835Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001203936] Chr19:10356682 [GRCh38]
Chr19:10467358 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.-79C>G single nucleotide variant Tyrosine kinase 2 deficiency [RCV001124801] Chr19:10379673 [GRCh38]
Chr19:10490349 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.-145C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV001124802] Chr19:10379739 [GRCh38]
Chr19:10490415 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.328C>T (p.Arg110Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001122036] Chr19:10368192 [GRCh38]
Chr19:10478868 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3201-15C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV001125533] Chr19:10352566 [GRCh38]
Chr19:10463242 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3200+11G>A single nucleotide variant Tyrosine kinase 2 deficiency [RCV001125534] Chr19:10352915 [GRCh38]
Chr19:10463591 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.727C>T (p.Arg243Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001125708] Chr19:10365801 [GRCh38]
Chr19:10476477 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.11G>A (p.Arg4His) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001231066] Chr19:10378396 [GRCh38]
Chr19:10489072 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1579C>T (p.Arg527Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001313410] Chr19:10362354 [GRCh38]
Chr19:10473030 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.187A>G (p.Lys63Glu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001313453] Chr19:10378220 [GRCh38]
Chr19:10488896 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3542C>T (p.Pro1181Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001349521] Chr19:10350856 [GRCh38]
Chr19:10461532 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1404C>T (p.Asp468=) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001334131] Chr19:10362621 [GRCh38]
Chr19:10473297 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1535G>A (p.Gly512Glu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001341555] Chr19:10362398 [GRCh38]
Chr19:10473074 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2293G>A (p.Gly765Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001320027] Chr19:10358021 [GRCh38]
Chr19:10468697 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2648A>G (p.Asp883Gly) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001301628] Chr19:10354579 [GRCh38]
Chr19:10465255 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.735C>G (p.Phe245Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001327031] Chr19:10365793 [GRCh38]
Chr19:10476469 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.935C>T (p.Pro312Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001349886] Chr19:10365593 [GRCh38]
Chr19:10476269 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1841G>A (p.Gly614Glu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001294945] Chr19:10361888 [GRCh38]
Chr19:10472564 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3359C>G (p.Thr1120Arg) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001327154] Chr19:10351122 [GRCh38]
Chr19:10461798 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2716-3C>T single nucleotide variant Tyrosine kinase 2 deficiency [RCV001319925] Chr19:10354237 [GRCh38]
Chr19:10464913 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1229G>A (p.Arg410Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001341984] Chr19:10364752 [GRCh38]
Chr19:10475428 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2974C>T (p.Arg992Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001322819] Chr19:10353581 [GRCh38]
Chr19:10464257 [GRCh37]
Chr19:19p13.2
uncertain significance
NC_000019.9:g.(?_10461490)_(10461858_?)dup duplication Tyrosine kinase 2 deficiency [RCV001308680] Chr19:10461490..10461858 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.490G>T (p.Val164Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001299251] Chr19:10366556 [GRCh38]
Chr19:10477232 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.937A>G (p.Thr313Ala) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001323121] Chr19:10365591 [GRCh38]
Chr19:10476267 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.359C>T (p.Pro120Leu) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001307862] Chr19:10368161 [GRCh38]
Chr19:10478837 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1954G>A (p.Ala652Thr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001320708] Chr19:10361775 [GRCh38]
Chr19:10472451 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.55G>A (p.Ala19Thr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001346268] Chr19:10378352 [GRCh38]
Chr19:10489028 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.985G>A (p.Val329Ile) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001305990] Chr19:10365543 [GRCh38]
Chr19:10476219 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1324C>T (p.Arg442Trp) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001339107] Chr19:10364657 [GRCh38]
Chr19:10475333 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.821G>A (p.Arg274His) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001300762] Chr19:10365707 [GRCh38]
Chr19:10476383 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1297T>C (p.Tyr433His) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001323455] Chr19:10364684 [GRCh38]
Chr19:10475360 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.277A>T (p.Ile93Phe) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001323474] Chr19:10368335 [GRCh38]
Chr19:10479011 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.179T>C (p.Ile60Thr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001344387] Chr19:10378228 [GRCh38]
Chr19:10488904 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2885A>G (p.Tyr962Cys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001304591] Chr19:10354065 [GRCh38]
Chr19:10464741 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.698G>A (p.Arg233His) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001325140] Chr19:10365830 [GRCh38]
Chr19:10476506 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.281C>G (p.Pro94Arg) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001295736] Chr19:10368331 [GRCh38]
Chr19:10479007 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2966A>G (p.Tyr989Cys) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001337437] Chr19:10353589 [GRCh38]
Chr19:10464265 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1691T>G (p.Met564Arg) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001299742] Chr19:10362160 [GRCh38]
Chr19:10472836 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1055T>C (p.Phe352Ser) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001345603] Chr19:10365005 [GRCh38]
Chr19:10475681 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.3076G>A (p.Ala1026Thr) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001305278] Chr19:10353050 [GRCh38]
Chr19:10463726 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.2435A>G (p.Glu812Gly) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001352336] Chr19:10357795 [GRCh38]
Chr19:10468471 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1142G>A (p.Arg381Gln) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001324608] Chr19:10364918 [GRCh38]
Chr19:10475594 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_003331.5(TYK2):c.1882G>A (p.Val628Met) single nucleotide variant Tyrosine kinase 2 deficiency [RCV001326198] Chr19:10361847 [GRCh38]
Chr19:10472523 [GRCh37]
Chr19:19p13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12440 AgrOrtholog
COSMIC TYK2 COSMIC
Ensembl Genes ENSG00000105397 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264818 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431885 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432320 UniProtKB/TrEMBL
  ENSP00000432728 UniProtKB/TrEMBL
  ENSP00000433203 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000434831 UniProtKB/TrEMBL
  ENSP00000434931 UniProtKB/TrEMBL
  ENSP00000436175 UniProtKB/TrEMBL
  ENSP00000436826 UniProtKB/TrEMBL
  ENSP00000465291 UniProtKB/TrEMBL
  ENSP00000466340 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264818 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000524462 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000525220 UniProtKB/TrEMBL
  ENST00000525621 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000525976 UniProtKB/TrEMBL
  ENST00000527481 UniProtKB/TrEMBL
  ENST00000529370 UniProtKB/TrEMBL
  ENST00000530560 UniProtKB/TrEMBL
  ENST00000530829 UniProtKB/TrEMBL
  ENST00000531836 UniProtKB/TrEMBL
  ENST00000533334 UniProtKB/TrEMBL
Gene3D-CATH 3.30.505.10 UniProtKB/TrEMBL
GTEx ENSG00000105397 GTEx
HGNC ID HGNC:12440 ENTREZGENE
Human Proteome Map TYK2 Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/TrEMBL
  FERM_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_F1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_F2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Jak1_PHL_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_non-rcpt_Jak/Tyk2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_non-rcpt_TYK2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7297 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7297 ENTREZGENE
OMIM 176941 OMIM
  611521 OMIM
Pfam FERM_F1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_F2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Jak1_Phl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37094 PharmGKB
PIRSF TyrPK_Jak UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS JANUSKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  YKINASETYK2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FERM_3 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
SMART B41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R7E4 ENTREZGENE, UniProtKB/TrEMBL
  E9PM19_HUMAN UniProtKB/TrEMBL
  E9PPF2_HUMAN UniProtKB/TrEMBL
  E9PQE9_HUMAN UniProtKB/TrEMBL
  E9PQL2_HUMAN UniProtKB/TrEMBL
  H0YCT7_HUMAN UniProtKB/TrEMBL
  H0YE24_HUMAN UniProtKB/TrEMBL
  H0YE41_HUMAN UniProtKB/TrEMBL
  K7EJR6_HUMAN UniProtKB/TrEMBL
  K7EM33_HUMAN UniProtKB/TrEMBL
  P29597 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6QB10 UniProtKB/Swiss-Prot
  Q96CH0 UniProtKB/Swiss-Prot