TYK2 (tyrosine kinase 2) - Rat Genome Database

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Pathways
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Gene: TYK2 (tyrosine kinase 2) Homo sapiens
Analyze
Symbol: TYK2
Name: tyrosine kinase 2
RGD ID: 1316192
HGNC Page HGNC:12440
Description: Enables growth hormone receptor binding activity and non-membrane spanning protein tyrosine kinase activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of lymphocyte proliferation; and positive regulation of type II interferon production. Located in cytoplasm and nucleus. Implicated in immunodeficiency 35.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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
GRCh381910,350,533 - 10,380,572 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1910,350,533 - 10,380,608 (-)EnsemblGRCh38hg38GRCh38
GRCh371910,461,209 - 10,491,248 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,322,209 - 10,352,211 (-)NCBINCBI36Build 36hg18NCBI36
Build 341910,322,208 - 10,352,211NCBI
Celera1910,356,496 - 10,385,954 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef1910,041,213 - 10,071,290 (-)NCBIHuRef
CHM1_11910,461,760 - 10,491,969 (-)NCBICHM1_1
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Therapeutic strategies for the clinical blockade of IL-6/gp130 signaling. Jones SA, etal., J Clin Invest. 2011 Sep 1;121(9):3375-83. doi: 10.1172/JCI57158. Epub 2011 Sep 1.
3. Signaling through the JAK/STAT pathway, recent advances and future challenges. Kisseleva T, etal., Gene 2002 Feb 20;285(1-2):1-24.
4. Interferon-related genetic markers of necroinflammatory activity in chronic hepatitis C. López-Rodríguez R, etal., PLoS One. 2017 Jul 12;12(7):e0180927. doi: 10.1371/journal.pone.0180927. eCollection 2017.
5. The JAK-STAT signaling pathway: input and output integration. Murray PJ J Immunol. 2007 Mar 1;178(5):2623-9.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. Role of angiotensin II in activation of the JAK/STAT pathway induced by acute pressure overload in the rat heart. Pan J, etal., Circ Res. 1997 Oct;81(4):611-7.
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Biology of interleukin-10. Sabat R, etal., Cytokine Growth Factor Rev. 2010 Oct;21(5):331-44. doi: 10.1016/j.cytogfr.2010.09.002. Epub 2010 Nov 5.
14. Jak family of kinases in cancer. Verma A, etal., Cancer Metastasis Rev 2003 Dec;22(4):423-34.
15. Substance dependence low-density whole genome association study in two distinct American populations. Yu Y, etal., Hum Genet. 2008 Jun;123(5):495-506. doi: 10.1007/s00439-008-0501-0. Epub 2008 Apr 26.
Additional References at PubMed
PMID:1386289   PMID:2156206   PMID:2216457   PMID:2247464   PMID:7510216   PMID:7526154   PMID:7528775   PMID:7543024   PMID:7579387   PMID:7589562   PMID:7629131   PMID:7638186  
PMID:7657660   PMID:7690989   PMID:8125298   PMID:8232552   PMID:8432525   PMID:8550573   PMID:8605876   PMID:8605877   PMID:8609418   PMID:8657151   PMID:8702790   PMID:8780698  
PMID:8943050   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:11114383   PMID:11201744   PMID:11294897   PMID:11399767   PMID:11430697   PMID:11694501   PMID:11839738   PMID:12023369   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:16482511   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:19088061   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:21873635  
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:26479788   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:30936491   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:32953130   PMID:33083484   PMID:33260630   PMID:33307546   PMID:33583939  
PMID:33667394   PMID:33799705   PMID:33811647   PMID:33961781   PMID:33971281   PMID:34225445   PMID:34248934   PMID:34569645   PMID:34813358   PMID:35255492   PMID:35339044   PMID:35708626  
PMID:35747941   PMID:35748872   PMID:35821088   PMID:36094518   PMID:36289205   PMID:36398662   PMID:36519621   PMID:36672770   PMID:36781502   PMID:36834806   PMID:36959416   PMID:37860832  
PMID:37950407   PMID:37983265  


Genomics

Comparative Map Data
TYK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381910,350,533 - 10,380,572 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1910,350,533 - 10,380,608 (-)EnsemblGRCh38hg38GRCh38
GRCh371910,461,209 - 10,491,248 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,322,209 - 10,352,211 (-)NCBINCBI36Build 36hg18NCBI36
Build 341910,322,208 - 10,352,211NCBI
Celera1910,356,496 - 10,385,954 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef1910,041,213 - 10,071,290 (-)NCBIHuRef
CHM1_11910,461,760 - 10,491,969 (-)NCBICHM1_1
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)NCBIT2T-CHM13v2.0
Tyk2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39921,015,364 - 21,042,689 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl921,015,364 - 21,042,539 (-)EnsemblGRCm39 Ensembl
GRCm38921,104,068 - 21,131,393 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl921,104,068 - 21,131,243 (-)EnsemblGRCm38mm10GRCm38
MGSCv37920,908,512 - 20,935,719 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36920,854,476 - 20,881,612 (-)NCBIMGSCv36mm8
Celera918,372,782 - 18,399,989 (-)NCBICelera
Cytogenetic Map9A3NCBI
cM Map97.71NCBI
Tyk2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8827,918,054 - 27,943,319 (-)NCBIGRCr8
mRatBN7.2819,641,881 - 19,667,157 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl819,641,884 - 19,667,044 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx823,661,293 - 23,682,384 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0821,959,148 - 21,980,237 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0819,871,547 - 19,892,652 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0822,118,224 - 22,149,807 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl822,124,560 - 22,150,005 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0822,180,760 - 22,205,979 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4820,096,969 - 20,149,004 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v22015,268,167 - 15,299,165 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11914,266,820 - 14,297,826 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0199,901,612 - 9,932,623 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11910,565,490 - 10,596,647 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1910,565,490 - 10,594,541 (-)Ensemblpanpan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02051,269,592 - 51,291,659 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2051,269,646 - 51,291,659 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12050,475,504 - 50,497,770 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02050,904,500 - 50,926,568 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02051,145,386 - 51,167,670 (+)NCBIUU_Cfam_GSD_1.0
Tyk2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118209,650,169 - 209,673,217 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936659681,310 - 702,962 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936659681,463 - 704,484 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TYK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl269,157,811 - 69,183,456 (-)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.169,399,945 - 9,420,054 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl69,399,775 - 9,417,630 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607410,583,417 - 10,634,844 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tyk2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248282,500,339 - 2,517,694 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248282,499,811 - 2,518,817 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TYK2
867 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003331.5(TYK2):c.3261C>T (p.Phe1087=) single nucleotide variant Immunodeficiency 35 [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.3027+66G>C single nucleotide variant not provided [RCV001571213] Chr19:10353462 [GRCh38]
Chr19:10464138 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.311G>A (p.Arg104His) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [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 Immunodeficiency 35 [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 Immunodeficiency 35 [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 Immunodeficiency 35 [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 Immunodeficiency 35 [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 Immunodeficiency 35 [RCV001513182]|not specified [RCV000126193] Chr19:10358156 [GRCh38]
Chr19:10468832 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.2311+11G>C single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000528354]|not provided [RCV001701518]|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 Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000545896] Chr19:10364699 [GRCh38]
Chr19:10475375 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.209_212del (p.Cys70fs) deletion Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000553570]|not specified [RCV000603506] Chr19:10350910 [GRCh38]
Chr19:10461586 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.149del (p.Ser50fs) deletion Immunodeficiency 35 [RCV000210451] Chr19:10378258 [GRCh38]
Chr19:10488934 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.4(TYK2):c.3318_3319insC insertion Immunodeficiency 35 [RCV000210458] Chr19:19p13.2 pathogenic
NM_003331.5(TYK2):c.1912C>T (p.Arg638Ter) single nucleotide variant Immunodeficiency 35 [RCV000210459] Chr19:10361817 [GRCh38]
Chr19:10472493 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.460G>T (p.Glu154Ter) single nucleotide variant Immunodeficiency 35 [RCV000210466] Chr19:10368060 [GRCh38]
Chr19:10478736 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.2371_2376del (p.Leu791_Ser792del) deletion Immunodeficiency 35 [RCV001857835]|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 Immunodeficiency 35 [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 Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000333160]|not provided [RCV001618428]|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 Immunodeficiency 35 [RCV000272963]|not provided [RCV001668493]|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 Immunodeficiency 35 [RCV000797605]|Inborn genetic diseases [RCV003258850]|not provided [RCV000521414] Chr19:10365723 [GRCh38]
Chr19:10476399 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.1669+7T>C single nucleotide variant Immunodeficiency 35 [RCV000394899]|not provided [RCV001675722]|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 Immunodeficiency 35 [RCV000550852]|not provided [RCV001534781]|not specified [RCV000250458] Chr19:10361776 [GRCh38]
Chr19:10472452 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.3201-8C>T single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000558284] Chr19:10362374 [GRCh38]
Chr19:10473050 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.114C>A (p.Gly38=) single nucleotide variant Immunodeficiency 35 [RCV000645238]|not provided [RCV001643019] Chr19:10378293 [GRCh38]
Chr19:10488969 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_003331.5(TYK2):c.2441C>T (p.Pro814Leu) single nucleotide variant Immunodeficiency 35 [RCV000645231] Chr19:10357789 [GRCh38]
Chr19:10468465 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.879C>T (p.Ile293=) single nucleotide variant Immunodeficiency 35 [RCV000273757] Chr19:10365649 [GRCh38]
Chr19:10476325 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.-378A>G single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000645244]|not provided [RCV001618577] Chr19:10359243 [GRCh38]
Chr19:10469919 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_003331.5(TYK2):c.630-3C>T single nucleotide variant Immunodeficiency 35 [RCV001041736] Chr19:10365901 [GRCh38]
Chr19:10476577 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2985C>T (p.Ile995=) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000343272]|TYK2-related condition [RCV003409520]|not provided [RCV001753787] Chr19:10362399 [GRCh38]
Chr19:10473075 [GRCh37]
Chr19:19p13.2		 benign|likely benign|uncertain significance
NM_003331.5(TYK2):c.1141C>T (p.Arg381Trp) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000321160] Chr19:10354569 [GRCh38]
Chr19:10465245 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.2618-14C>G single nucleotide variant Immunodeficiency 35 [RCV000359734] Chr19:10354623 [GRCh38]
Chr19:10465299 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.-21+7T>G single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000527931] Chr19:10361922 [GRCh38]
Chr19:10472598 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.-132T>C single nucleotide variant Immunodeficiency 35 [RCV000347381] Chr19:10379726 [GRCh38]
Chr19:10490402 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.942C>T (p.His314=) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000282468] Chr19:10361923 [GRCh38]
Chr19:10472599 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.590G>A (p.Arg197His) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000376075]|not specified [RCV000613009] Chr19:10378200 [GRCh38]
Chr19:10488876 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000645230] Chr19:10361541 [GRCh38]
Chr19:10472217 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3239A>G (p.Tyr1080Cys) single nucleotide variant Immunodeficiency 35 [RCV000357031] Chr19:10352513 [GRCh38]
Chr19:10463189 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2124G>A (p.Met708Ile) single nucleotide variant Immunodeficiency 35 [RCV000381768] Chr19:10359226 [GRCh38]
Chr19:10469902 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1848T>G (p.Pro616=) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [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 Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000397916]|not provided [RCV001613055] Chr19:10350700 [GRCh38]
Chr19:10461376 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_003331.5(TYK2):c.602C>T (p.Pro201Leu) single nucleotide variant Immunodeficiency 35 [RCV000316044] Chr19:10366444 [GRCh38]
Chr19:10477120 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2716-10T>G single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000529566]|not provided [RCV001718685]|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 Immunodeficiency 35 [RCV000387955] Chr19:10365867 [GRCh38]
Chr19:10476543 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.*199A>G single nucleotide variant Immunodeficiency 35 [RCV000349065]|not provided [RCV001788200] Chr19:10350635 [GRCh38]
Chr19:10461311 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.2715+9C>T single nucleotide variant Immunodeficiency 35 [RCV000268341]|TYK2-related condition [RCV003897747] Chr19:10354503 [GRCh38]
Chr19:10465179 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|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 Immunodeficiency 35 [RCV001851304]|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 Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000333386] Chr19:10365791 [GRCh38]
Chr19:10476467 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.-23C>T single nucleotide variant Immunodeficiency 35 [RCV000306658] Chr19:10379617 [GRCh38]
Chr19:10490293 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.4(TYK2):c.*302C>T single nucleotide variant Immunodeficiency 35 [RCV000296536] Chr19:10350532 [GRCh38]
Chr19:10461208 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.-369C>T single nucleotide variant Immunodeficiency 35 [RCV000370936] Chr19:10380563 [GRCh38]
Chr19:10491239 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1000A>G (p.Asn334Asp) single nucleotide variant Immunodeficiency 35 [RCV000309308] Chr19:10365528 [GRCh38]
Chr19:10476204 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.-328T>G single nucleotide variant Immunodeficiency 35 [RCV000311672] Chr19:10380522 [GRCh38]
Chr19:10491198 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1669+10T>C single nucleotide variant Immunodeficiency 35 [RCV002064238]|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 Immunodeficiency 35 [RCV000768360] Chr19:10357767 [GRCh38]
Chr19:10468443 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.2494C>T (p.Arg832Trp) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000645237]|not provided [RCV001719993] 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 Immunodeficiency 35 [RCV002059998]|not specified [RCV000417775] Chr19:10362200 [GRCh38]
Chr19:10472876 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_003331.5(TYK2):c.2670G>C (p.Thr890=) single nucleotide variant Immunodeficiency 35 [RCV000526851]|not provided [RCV001702474]|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 Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000534611]|not provided [RCV003409588]|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 Immunodeficiency 35 [RCV002063496]|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 Immunodeficiency 35 [RCV001411067]|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 Immunodeficiency 35 [RCV001865352]|not specified [RCV000423076] Chr19:10358028 [GRCh38]
Chr19:10468704 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.1960-15G>A single nucleotide variant Immunodeficiency 35 [RCV001125625]|not specified [RCV000444581] Chr19:10361613 [GRCh38]
Chr19:10472289 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_003331.5(TYK2):c.1011+12G>A single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [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 Immunodeficiency 35 [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 Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000645226] Chr19:10350838 [GRCh38]
Chr19:10461514 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2350C>G (p.Leu784Val) single nucleotide variant Immunodeficiency 35 [RCV000645234] Chr19:10357880 [GRCh38]
Chr19:10468556 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.783C>G (p.Ala261=) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [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 Immunodeficiency 35 [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 Immunodeficiency 35 [RCV001426972] Chr19:10366560 [GRCh38]
Chr19:10477236 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3156C>T (p.His1052=) single nucleotide variant Immunodeficiency 35 [RCV001434961] Chr19:10352970 [GRCh38]
Chr19:10463646 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.777_778delinsTT (p.Tyr259_Leu260=) indel Immunodeficiency 35 [RCV000645247]|not provided [RCV002275095] Chr19:10365750..10365751 [GRCh38]
Chr19:10476426..10476427 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.924T>C (p.Ala308=) single nucleotide variant Immunodeficiency 35 [RCV000645248] Chr19:10365604 [GRCh38]
Chr19:10476280 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.994G>A (p.Glu332Lys) single nucleotide variant Inborn genetic diseases [RCV003258039] Chr19:10365534 [GRCh38]
Chr19:10476210 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.647del (p.Pro216fs) deletion Immunodeficiency 35 [RCV002285018]|not provided [RCV000585248] Chr19:10365881 [GRCh38]
Chr19:10476557 [GRCh37]
Chr19:19p13.2		 pathogenic|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 Immunodeficiency 35 [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 Immunodeficiency 35 [RCV001464028]|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 Immunodeficiency 35 [RCV000972187]|not provided [RCV001722657] Chr19:10352923 [GRCh38]
Chr19:10463599 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_003331.5(TYK2):c.2617+13C>T single nucleotide variant Immunodeficiency 35 [RCV002531184]|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 Immunodeficiency 35 [RCV001127630]|not specified [RCV000609302] Chr19:10354581 [GRCh38]
Chr19:10465257 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.639C>T (p.Asp213=) single nucleotide variant Immunodeficiency 35 [RCV001487550]|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 Immunodeficiency 35 [RCV000645225] Chr19:10361525 [GRCh38]
Chr19:10472201 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2506C>T (p.Pro836Ser) single nucleotide variant Immunodeficiency 35 [RCV000645227] Chr19:10356679 [GRCh38]
Chr19:10467355 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.386_391del (p.Gly129_Thr130del) deletion Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000645229] Chr19:10357877 [GRCh38]
Chr19:10468553 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2429A>T (p.Asp810Val) single nucleotide variant Immunodeficiency 35 [RCV000645232] Chr19:10357801 [GRCh38]
Chr19:10468477 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.211T>C (p.Phe71Leu) single nucleotide variant Immunodeficiency 35 [RCV000645233] Chr19:10368401 [GRCh38]
Chr19:10479077 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.256C>A (p.Pro86Thr) single nucleotide variant Immunodeficiency 35 [RCV000645235] Chr19:10368356 [GRCh38]
Chr19:10479032 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.810C>T (p.Phe270=) single nucleotide variant Immunodeficiency 35 [RCV001426508] Chr19:10365718 [GRCh38]
Chr19:10476394 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2812C>G (p.Pro938Ala) single nucleotide variant Immunodeficiency 35 [RCV000700765] Chr19:10354138 [GRCh38]
Chr19:10464814 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1683CAT[2] (p.Ile563del) microsatellite Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000698622] Chr19:10354054 [GRCh38]
Chr19:10464730 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3475C>A (p.Arg1159Ser) single nucleotide variant Immunodeficiency 35 [RCV000700589] Chr19:10350923 [GRCh38]
Chr19:10461599 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.525G>C (p.Glu175Asp) single nucleotide variant Immunodeficiency 35 [RCV000698615] Chr19:10366521 [GRCh38]
Chr19:10477197 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.692G>A (p.Arg231Gln) single nucleotide variant Immunodeficiency 35 [RCV000685160] Chr19:10365836 [GRCh38]
Chr19:10476512 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1342C>T (p.Arg448Trp) single nucleotide variant Immunodeficiency 35 [RCV000704140] Chr19:10364639 [GRCh38]
Chr19:10475315 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.80G>A (p.Gly27Asp) single nucleotide variant Immunodeficiency 35 [RCV000706784] Chr19:10378327 [GRCh38]
Chr19:10489003 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.589C>T (p.Arg197Cys) single nucleotide variant Immunodeficiency 35 [RCV000693275]|TYK2-related condition [RCV003945715] Chr19:10366457 [GRCh38]
Chr19:10477133 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1646G>A (p.Arg549His) single nucleotide variant Immunodeficiency 35 [RCV000701097]|Inborn genetic diseases [RCV002533612] Chr19:10362287 [GRCh38]
Chr19:10472963 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.2974C>A (p.Arg992=) single nucleotide variant Immunodeficiency 35 [RCV000701797] Chr19:10353581 [GRCh38]
Chr19:10464257 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2534C>T (p.Thr845Ile) single nucleotide variant Immunodeficiency 35 [RCV000707091] Chr19:10356651 [GRCh38]
Chr19:10467327 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1486G>A (p.Gly496Ser) single nucleotide variant Immunodeficiency 35 [RCV000704767] Chr19:10362447 [GRCh38]
Chr19:10473123 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1228C>T (p.Arg410Trp) single nucleotide variant Immunodeficiency 35 [RCV000707349] Chr19:10364753 [GRCh38]
Chr19:10475429 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2909-2A>G single nucleotide variant Immunodeficiency 35 [RCV000707428] Chr19:10353648 [GRCh38]
Chr19:10464324 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_003331.5(TYK2):c.43G>T (p.Val15Phe) single nucleotide variant Immunodeficiency 35 [RCV000696218] Chr19:10378364 [GRCh38]
Chr19:10489040 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2452C>T (p.Arg818Cys) single nucleotide variant Immunodeficiency 35 [RCV000703540] Chr19:10357778 [GRCh38]
Chr19:10468454 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1531G>T (p.Asp511Tyr) single nucleotide variant Immunodeficiency 35 [RCV000703543] Chr19:10362402 [GRCh38]
Chr19:10473078 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.349C>T (p.Pro117Ser) single nucleotide variant Immunodeficiency 35 [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.466-172dup duplication not provided [RCV001583032] Chr19:10366733..10366734 [GRCh38]
Chr19:10477409..10477410 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1012-36C>T single nucleotide variant not provided [RCV001665556]|not specified [RCV003401575] Chr19:10365084 [GRCh38]
Chr19:10475760 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.2047+27C>T single nucleotide variant not provided [RCV001568118] Chr19:10361484 [GRCh38]
Chr19:10472160 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1501C>T (p.Arg501Trp) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV001855709]|Inborn genetic diseases [RCV003279044]|not provided [RCV000761987] Chr19:10368167 [GRCh38]
Chr19:10478843 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NC_000019.10:g.(?_10350814)_(10351182_?)dup duplication Immunodeficiency 35 [RCV001031998] Chr19:10461490..10461858 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.10:g.(?_10350814)_(10378426_?)dup duplication Immunodeficiency 35 [RCV001031630] Chr19:10461490..10489102 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2716-128G>A single nucleotide variant not provided [RCV001586194] Chr19:10354362 [GRCh38]
Chr19:10465038 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1774-5C>T single nucleotide variant Immunodeficiency 35 [RCV000981865] Chr19:10361960 [GRCh38]
Chr19:10472636 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.489C>T (p.Asp163=) single nucleotide variant Immunodeficiency 35 [RCV001127810] Chr19:10366557 [GRCh38]
Chr19:10477233 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|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 35 [RCV000970668]|Immunodeficiency [RCV000984870] 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 Immunodeficiency 35 [RCV001446608]|TYK2-related condition [RCV003978030]|not provided [RCV003424472] Chr19:10364619 [GRCh38]
Chr19:10475295 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1959+9_1959+10delinsAT indel Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000921240] Chr19:10365819 [GRCh38]
Chr19:10476495 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2602C>T (p.Arg868Trp) single nucleotide variant Immunodeficiency 35 [RCV001056211]|not provided [RCV003425901] Chr19:10356583 [GRCh38]
Chr19:10467259 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1621G>A (p.Gly541Arg) single nucleotide variant Immunodeficiency 35 [RCV001039251] Chr19:10362312 [GRCh38]
Chr19:10472988 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1820G>A (p.Arg607His) single nucleotide variant Immunodeficiency 35 [RCV001037347] Chr19:10361909 [GRCh38]
Chr19:10472585 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2453G>A (p.Arg818His) single nucleotide variant Immunodeficiency 35 [RCV001057401] Chr19:10357777 [GRCh38]
Chr19:10468453 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2456G>A (p.Ser819Asn) single nucleotide variant Immunodeficiency 35 [RCV001054158] Chr19:10357774 [GRCh38]
Chr19:10468450 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3318+6A>T single nucleotide variant Immunodeficiency 35 [RCV001036414] Chr19:10352428 [GRCh38]
Chr19:10463104 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1399G>A (p.Glu467Lys) single nucleotide variant Immunodeficiency 35 [RCV000807477] Chr19:10362626 [GRCh38]
Chr19:10473302 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2026G>A (p.Val676Ile) single nucleotide variant Immunodeficiency 35 [RCV000792110]|not provided [RCV001550549] Chr19:10361532 [GRCh38]
Chr19:10472208 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1502G>A (p.Arg501Gln) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV001441242] Chr19:10358032 [GRCh38]
Chr19:10468708 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.409_417dup (p.Thr137_Gln139dup) duplication Immunodeficiency 35 [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 Immunodeficiency 35 [RCV001415756]|TYK2-related condition [RCV003913077] Chr19:10362624 [GRCh38]
Chr19:10473300 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2499G>A (p.Leu833=) single nucleotide variant Immunodeficiency 35 [RCV001416235] Chr19:10356686 [GRCh38]
Chr19:10467362 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1669+5G>A single nucleotide variant Immunodeficiency 35 [RCV001474191] Chr19:10362259 [GRCh38]
Chr19:10472935 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3123C>T (p.Asp1041=) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000812810] Chr19:10368328 [GRCh38]
Chr19:10479004 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1669+4C>T single nucleotide variant Immunodeficiency 35 [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]|not specified [RCV003396469] Chr19:10362716 [GRCh38]
Chr19:10473392 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.2908+31T>C single nucleotide variant Immunodeficiency 35 [RCV002245703]|not provided [RCV000832569]|not specified [RCV003392633] 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 Immunodeficiency 35 [RCV000807215] Chr19:10361831 [GRCh38]
Chr19:10472507 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2660C>G (p.Ser887Trp) single nucleotide variant Immunodeficiency 35 [RCV000807341] Chr19:10354567 [GRCh38]
Chr19:10465243 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1375T>C (p.Phe459Leu) single nucleotide variant Immunodeficiency 35 [RCV000810846] Chr19:10362650 [GRCh38]
Chr19:10473326 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2645C>T (p.Pro882Leu) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000819655] Chr19:10365858 [GRCh38]
Chr19:10476534 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2664C>A (p.Asp888Glu) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000818377] Chr19:10359242 [GRCh38]
Chr19:10469918 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1238C>T (p.Ala413Val) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000816934] Chr19:10365678 [GRCh38]
Chr19:10476354 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2687A>G (p.Tyr896Cys) single nucleotide variant Immunodeficiency 35 [RCV000799014] Chr19:10354540 [GRCh38]
Chr19:10465216 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.649C>T (p.Arg217Cys) single nucleotide variant Immunodeficiency 35 [RCV000811838] Chr19:10365879 [GRCh38]
Chr19:10476555 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1705G>A (p.Ala569Thr) single nucleotide variant Immunodeficiency 35 [RCV000815793] Chr19:10362146 [GRCh38]
Chr19:10472822 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2653C>A (p.Pro885Thr) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000796746] Chr19:10362592 [GRCh38]
Chr19:10473268 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.449A>G (p.Glu150Gly) single nucleotide variant Immunodeficiency 35 [RCV000820314]|Inborn genetic diseases [RCV003362977] 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 Immunodeficiency 35 [RCV001856229]|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 Immunodeficiency 35 [RCV000808876] Chr19:10364732 [GRCh38]
Chr19:10475408 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.662G>A (p.Arg221Gln) single nucleotide variant Immunodeficiency 35 [RCV000824579]|Inborn genetic diseases [RCV003344082] Chr19:10365866 [GRCh38]
Chr19:10476542 [GRCh37]
Chr19:19p13.2		 likely benign|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 Immunodeficiency 35 [RCV000802854]|TYK2-related condition [RCV003413607] Chr19:10368083 [GRCh38]
Chr19:10478759 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2230C>T (p.Arg744Trp) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000806809] Chr19:10365734 [GRCh38]
Chr19:10476410 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.10:g.(?_10378194)_(10378426_?)dup duplication Immunodeficiency 35 [RCV001031489] Chr19:10488870..10489102 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.34A>G (p.Ser12Gly) single nucleotide variant Immunodeficiency 35 [RCV001047343] Chr19:10378373 [GRCh38]
Chr19:10489049 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.466-3C>T single nucleotide variant Immunodeficiency 35 [RCV001065221] Chr19:10366583 [GRCh38]
Chr19:10477259 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1913G>A (p.Arg638Gln) single nucleotide variant Immunodeficiency 35 [RCV000810976] Chr19:10361816 [GRCh38]
Chr19:10472492 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1469G>A (p.Arg490His) single nucleotide variant Immunodeficiency 35 [RCV000824553] Chr19:10362556 [GRCh38]
Chr19:10473232 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1643G>A (p.Arg548His) single nucleotide variant Immunodeficiency 35 [RCV000815070] Chr19:10362290 [GRCh38]
Chr19:10472966 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.728G>A (p.Arg243Gln) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000815669] Chr19:10365719 [GRCh38]
Chr19:10476395 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1019G>A (p.Ser340Asn) single nucleotide variant Immunodeficiency 35 [RCV000810845] Chr19:10365041 [GRCh38]
Chr19:10475717 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.793C>T (p.Arg265Trp) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000804141] Chr19:10356685 [GRCh38]
Chr19:10467361 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1236G>A (p.Ala412=) single nucleotide variant Immunodeficiency 35 [RCV000915925]|not provided [RCV003326502] Chr19:10364745 [GRCh38]
Chr19:10475421 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.317+4G>T single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000938065] Chr19:10366464 [GRCh38]
Chr19:10477140 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1663C>T (p.Pro555Ser) single nucleotide variant Immunodeficiency 35 [RCV000804641] Chr19:10362270 [GRCh38]
Chr19:10472946 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3315C>A (p.Pro1105=) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV000892926] Chr19:10361828 [GRCh38]
Chr19:10472504 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.36T>G (p.Ser12Arg) single nucleotide variant Immunodeficiency 35 [RCV001064932] Chr19:10378371 [GRCh38]
Chr19:10489047 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1919T>C (p.Val640Ala) single nucleotide variant Immunodeficiency 35 [RCV001889028] Chr19:10361810 [GRCh38]
Chr19:10472486 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2077G>A (p.Gly693Arg) single nucleotide variant Immunodeficiency 35 [RCV001044644] Chr19:10359273 [GRCh38]
Chr19:10469949 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3532G>A (p.Gly1178Ser) single nucleotide variant Immunodeficiency 35 [RCV001067143] Chr19:10350866 [GRCh38]
Chr19:10461542 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1711C>T (p.Pro571Ser) single nucleotide variant Immunodeficiency 35 [RCV001046441] Chr19:10362140 [GRCh38]
Chr19:10472816 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.583G>T (p.Ala195Ser) single nucleotide variant Immunodeficiency 35 [RCV001214006] Chr19:10366463 [GRCh38]
Chr19:10477139 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2616C>G (p.His872Gln) single nucleotide variant Immunodeficiency 35 [RCV001046711] Chr19:10356569 [GRCh38]
Chr19:10467245 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1508G>A (p.Arg503Gln) single nucleotide variant Immunodeficiency 35 [RCV001242455] Chr19:10362425 [GRCh38]
Chr19:10473101 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.970A>G (p.Ile324Val) single nucleotide variant Immunodeficiency 35 [RCV001234192] Chr19:10365558 [GRCh38]
Chr19:10476234 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3307A>G (p.Ser1103Gly) single nucleotide variant Immunodeficiency 35 [RCV001243007] Chr19:10352445 [GRCh38]
Chr19:10463121 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1585C>T (p.Leu529Phe) single nucleotide variant Immunodeficiency 35 [RCV001231493] Chr19:10362348 [GRCh38]
Chr19:10473024 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.333C>G (p.Asn111Lys) single nucleotide variant Immunodeficiency 35 [RCV001209836] Chr19:10368187 [GRCh38]
Chr19:10478863 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3191C>G (p.Pro1064Arg) single nucleotide variant Immunodeficiency 35 [RCV001223575] Chr19:10352935 [GRCh38]
Chr19:10463611 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1235C>T (p.Ala412Val) single nucleotide variant Immunodeficiency 35 [RCV001209486] Chr19:10364746 [GRCh38]
Chr19:10475422 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2218A>G (p.Ile740Val) single nucleotide variant Immunodeficiency 35 [RCV001227195] Chr19:10358096 [GRCh38]
Chr19:10468772 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.580C>T (p.Leu194Phe) single nucleotide variant Immunodeficiency 35 [RCV001227196]|Inborn genetic diseases [RCV002563108] Chr19:10366466 [GRCh38]
Chr19:10477142 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2041C>T (p.Pro681Ser) single nucleotide variant Immunodeficiency 35 [RCV001224408] Chr19:10361517 [GRCh38]
Chr19:10472193 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1819C>T (p.Arg607Cys) single nucleotide variant Immunodeficiency 35 [RCV001201473] Chr19:10361910 [GRCh38]
Chr19:10472586 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2917T>G (p.Ser973Ala) single nucleotide variant Immunodeficiency 35 [RCV001241806] Chr19:10353638 [GRCh38]
Chr19:10464314 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.10C>T (p.Arg4Cys) single nucleotide variant Immunodeficiency 35 [RCV001241854] Chr19:10378397 [GRCh38]
Chr19:10489073 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.232G>T (p.Asp78Tyr) single nucleotide variant Immunodeficiency 35 [RCV001210453] Chr19:10368380 [GRCh38]
Chr19:10479056 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1094C>T (p.Pro365Leu) single nucleotide variant Immunodeficiency 35 [RCV001248572] Chr19:10364966 [GRCh38]
Chr19:10475642 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1968C>T (p.Tyr656=) single nucleotide variant Immunodeficiency 35 [RCV001124617] Chr19:10361590 [GRCh38]
Chr19:10472266 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.*260C>T single nucleotide variant Immunodeficiency 35 [RCV001127548] Chr19:10350574 [GRCh38]
Chr19:10461250 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.-9G>A single nucleotide variant Immunodeficiency 35 [RCV001124799] Chr19:10378415 [GRCh38]
Chr19:10489091 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.-37C>T single nucleotide variant Immunodeficiency 35 [RCV001124800] Chr19:10379631 [GRCh38]
Chr19:10490307 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.329G>A (p.Arg110Gln) single nucleotide variant Immunodeficiency 35 [RCV001122035] Chr19:10368191 [GRCh38]
Chr19:10478867 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.-154A>G single nucleotide variant Immunodeficiency 35 [RCV001125790] Chr19:10379748 [GRCh38]
Chr19:10490424 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1394G>A (p.Arg465Gln) single nucleotide variant Immunodeficiency 35 [RCV001211836] Chr19:10362631 [GRCh38]
Chr19:10473307 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1108C>T (p.Arg370Trp) single nucleotide variant Immunodeficiency 35 [RCV001123632] Chr19:10364952 [GRCh38]
Chr19:10475628 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2047+13C>T single nucleotide variant Immunodeficiency 35 [RCV003106469] Chr19:10361498 [GRCh38]
Chr19:10472174 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2445G>A (p.Leu815=) single nucleotide variant Immunodeficiency 35 [RCV003105129] Chr19:10357785 [GRCh38]
Chr19:10468461 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2617+257C>T single nucleotide variant not provided [RCV001663259] Chr19:10356311 [GRCh38]
Chr19:10466987 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.1959+25G>A single nucleotide variant not provided [RCV001576427] Chr19:10361745 [GRCh38]
Chr19:10472421 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3201-81C>T single nucleotide variant not provided [RCV001552258] Chr19:10352632 [GRCh38]
Chr19:10463308 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.630-225A>G single nucleotide variant not provided [RCV001553319] Chr19:10366123 [GRCh38]
Chr19:10476799 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2908+178G>A single nucleotide variant not provided [RCV001553375] Chr19:10353864 [GRCh38]
Chr19:10464540 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2716-39T>C single nucleotide variant not provided [RCV001549732] Chr19:10354273 [GRCh38]
Chr19:10464949 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3027+194C>A single nucleotide variant not provided [RCV001615476] Chr19:10353334 [GRCh38]
Chr19:10464010 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.465+191C>T single nucleotide variant not provided [RCV001598428] Chr19:10367864 [GRCh38]
Chr19:10478540 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.193+57G>A single nucleotide variant not provided [RCV001561163] Chr19:10378157 [GRCh38]
Chr19:10488833 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2176-156dup duplication not provided [RCV001550497] Chr19:10358293..10358294 [GRCh38]
Chr19:10468969..10468970 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.466-156_466-154del deletion not provided [RCV001556061] Chr19:10366734..10366736 [GRCh38]
Chr19:10477410..10477412 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3201-162_3201-147del microsatellite not provided [RCV001593749] Chr19:10352698..10352713 [GRCh38]
Chr19:10463374..10463389 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2175+100GTTT[3] microsatellite not provided [RCV001684946]|not specified [RCV003401609] Chr19:10359067..10359068 [GRCh38]
Chr19:10469743..10469744 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.1011+21G>A single nucleotide variant not provided [RCV001557717] Chr19:10365496 [GRCh38]
Chr19:10476172 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2617+206C>G single nucleotide variant not provided [RCV001621189] Chr19:10356362 [GRCh38]
Chr19:10467038 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.261A>G (p.Pro87=) single nucleotide variant Immunodeficiency 35 [RCV001504537] Chr19:10368351 [GRCh38]
Chr19:10479027 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.194-8T>C single nucleotide variant Immunodeficiency 35 [RCV001442705] Chr19:10368426 [GRCh38]
Chr19:10479102 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3489G>A (p.Glu1163=) single nucleotide variant Immunodeficiency 35 [RCV000908441] Chr19:10350909 [GRCh38]
Chr19:10461585 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3315C>G (p.Pro1105=) single nucleotide variant Immunodeficiency 35 [RCV000974696] Chr19:10352437 [GRCh38]
Chr19:10463113 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1281G>A (p.Thr427=) single nucleotide variant Immunodeficiency 35 [RCV000974760] Chr19:10364700 [GRCh38]
Chr19:10475376 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3555C>T (p.Ser1185=) single nucleotide variant Immunodeficiency 35 [RCV001124523] Chr19:10350843 [GRCh38]
Chr19:10461519 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.2403C>T (p.Gly801=) single nucleotide variant Immunodeficiency 35 [RCV002540814] Chr19:10357827 [GRCh38]
Chr19:10468503 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2814C>G (p.Pro938=) single nucleotide variant Immunodeficiency 35 [RCV001485696]|not provided [RCV003326503] Chr19:10354136 [GRCh38]
Chr19:10464812 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2175+9C>A single nucleotide variant Immunodeficiency 35 [RCV000924580] Chr19:10359166 [GRCh38]
Chr19:10469842 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3147C>G (p.Pro1049=) single nucleotide variant Immunodeficiency 35 [RCV003514430] Chr19:10352979 [GRCh38]
Chr19:10463655 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.149C>T (p.Ser50Leu) single nucleotide variant Immunodeficiency 35 [RCV001238943] Chr19:10378258 [GRCh38]
Chr19:10488934 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.124C>G (p.Pro42Ala) single nucleotide variant Immunodeficiency 35 [RCV001242308] Chr19:10378283 [GRCh38]
Chr19:10488959 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1200C>G (p.Asn400Lys) single nucleotide variant Immunodeficiency 35 [RCV001050152] Chr19:10364860 [GRCh38]
Chr19:10475536 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2558C>G (p.Pro853Arg) single nucleotide variant Immunodeficiency 35 [RCV001127631] Chr19:10356627 [GRCh38]
Chr19:10467303 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1669+12G>A single nucleotide variant Immunodeficiency 35 [RCV001127713] Chr19:10362252 [GRCh38]
Chr19:10472928 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1489A>C (p.Met497Leu) single nucleotide variant Immunodeficiency 35 [RCV001127715] Chr19:10362444 [GRCh38]
Chr19:10473120 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.505G>A (p.Glu169Lys) single nucleotide variant Immunodeficiency 35 [RCV001127807] Chr19:10366541 [GRCh38]
Chr19:10477217 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.498A>G (p.Ser166=) single nucleotide variant Immunodeficiency 35 [RCV001127808] Chr19:10366548 [GRCh38]
Chr19:10477224 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.493G>A (p.Ala165Thr) single nucleotide variant Immunodeficiency 35 [RCV001127809] Chr19:10366553 [GRCh38]
Chr19:10477229 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1082C>T (p.Ala361Val) single nucleotide variant Immunodeficiency 35 [RCV001236408]|Inborn genetic diseases [RCV003365279] Chr19:10364978 [GRCh38]
Chr19:10475654 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.*174G>A single nucleotide variant Immunodeficiency 35 [RCV001123426] Chr19:10350660 [GRCh38]
Chr19:10461336 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.740C>T (p.Pro247Leu) single nucleotide variant Immunodeficiency 35 [RCV001051334] Chr19:10365788 [GRCh38]
Chr19:10476464 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2778G>A (p.Met926Ile) single nucleotide variant Immunodeficiency 35 [RCV001243665] Chr19:10354172 [GRCh38]
Chr19:10464848 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3525G>A (p.Lys1175=) single nucleotide variant Immunodeficiency 35 [RCV001124524] Chr19:10350873 [GRCh38]
Chr19:10461549 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.829G>A (p.Val277Met) single nucleotide variant Immunodeficiency 35 [RCV001124702] Chr19:10365699 [GRCh38]
Chr19:10476375 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1580G>A (p.Arg527Gln) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV001459985] Chr19:10378292 [GRCh38]
Chr19:10488968 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2716-4C>G single nucleotide variant Immunodeficiency 35 [RCV000889366] Chr19:10354238 [GRCh38]
Chr19:10464914 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.1398C>T (p.Pro466=) single nucleotide variant Immunodeficiency 35 [RCV001123630] Chr19:10362627 [GRCh38]
Chr19:10473303 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.2102G>C (p.Arg701Thr) single nucleotide variant Immunodeficiency 35 [RCV000913852] Chr19:10359248 [GRCh38]
Chr19:10469924 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity
NM_003331.5(TYK2):c.2175+188G>A single nucleotide variant not provided [RCV001562482] Chr19:10358987 [GRCh38]
Chr19:10469663 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2467-48del deletion not provided [RCV001658611] Chr19:10356766 [GRCh38]
Chr19:10467442 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.2716-55G>C single nucleotide variant not provided [RCV001569173] Chr19:10354289 [GRCh38]
Chr19:10464965 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2176-157A>C single nucleotide variant not provided [RCV001556119] Chr19:10358295 [GRCh38]
Chr19:10468971 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1855G>T (p.Gly619Cys) single nucleotide variant Inborn genetic diseases [RCV003294935] Chr19:10361874 [GRCh38]
Chr19:10472550 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.194-288G>T single nucleotide variant not provided [RCV001592059] Chr19:10368706 [GRCh38]
Chr19:10479382 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.466-42G>T single nucleotide variant not provided [RCV001688878] Chr19:10366622 [GRCh38]
Chr19:10477298 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.2617+82G>T single nucleotide variant not provided [RCV001674757] Chr19:10356486 [GRCh38]
Chr19:10467162 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.465+135del deletion not provided [RCV001540263]|not specified [RCV003394123] Chr19:10367920 [GRCh38]
Chr19:10478596 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.465+48G>T single nucleotide variant not provided [RCV001617216] Chr19:10368007 [GRCh38]
Chr19:10478683 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.3318+150C>G single nucleotide variant not provided [RCV001595653] Chr19:10352284 [GRCh38]
Chr19:10462960 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.193+117C>T single nucleotide variant not provided [RCV001596367] Chr19:10378097 [GRCh38]
Chr19:10488773 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3487G>A (p.Glu1163Lys) single nucleotide variant Immunodeficiency 35 [RCV001124525] Chr19:10350911 [GRCh38]
Chr19:10461587 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2023G>A (p.Gly675Ser) single nucleotide variant Immunodeficiency 35 [RCV001124616] Chr19:10361535 [GRCh38]
Chr19:10472211 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2370C>T (p.Ser790=) single nucleotide variant Immunodeficiency 35 [RCV001123532] Chr19:10357860 [GRCh38]
Chr19:10468536 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1444C>T (p.Arg482Cys) single nucleotide variant Immunodeficiency 35 [RCV001123629] Chr19:10362581 [GRCh38]
Chr19:10473257 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1839C>T (p.Ser613=) single nucleotide variant Immunodeficiency 35 [RCV001125627] Chr19:10361890 [GRCh38]
Chr19:10472566 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.975G>T (p.Gln325His) single nucleotide variant Immunodeficiency 35 [RCV001124701] Chr19:10365553 [GRCh38]
Chr19:10476229 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2983A>G (p.Ile995Val) single nucleotide variant Immunodeficiency 35 [RCV001049974]|not provided [RCV003413849] Chr19:10353572 [GRCh38]
Chr19:10464248 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1851G>A (p.Glu617=) single nucleotide variant Immunodeficiency 35 [RCV001125626] Chr19:10361878 [GRCh38]
Chr19:10472554 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.*173C>T single nucleotide variant Immunodeficiency 35 [RCV001123427] Chr19:10350661 [GRCh38]
Chr19:10461337 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.*146T>A single nucleotide variant Immunodeficiency 35 [RCV001123428] Chr19:10350688 [GRCh38]
Chr19:10461364 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.*120C>T single nucleotide variant Immunodeficiency 35 [RCV001123429] Chr19:10350714 [GRCh38]
Chr19:10461390 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.*63G>A single nucleotide variant Immunodeficiency 35 [RCV001123430] Chr19:10350771 [GRCh38]
Chr19:10461447 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.*261C>A single nucleotide variant Immunodeficiency 35 [RCV001127547] Chr19:10350573 [GRCh38]
Chr19:10461249 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2197G>A (p.Gly733Ser) single nucleotide variant Immunodeficiency 35 [RCV001123533] Chr19:10358117 [GRCh38]
Chr19:10468793 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.*291T>C single nucleotide variant Immunodeficiency 35 [RCV001127546] Chr19:10350543 [GRCh38]
Chr19:10461219 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1576G>A (p.Val526Ile) single nucleotide variant Immunodeficiency 35 [RCV001127714] Chr19:10362357 [GRCh38]
Chr19:10473033 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2176-9C>T single nucleotide variant Immunodeficiency 35 [RCV001123534] Chr19:10358147 [GRCh38]
Chr19:10468823 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.629+26T>C single nucleotide variant not provided [RCV001645902]|not specified [RCV003399450] Chr19:10366391 [GRCh38]
Chr19:10477067 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.2047+210C>T single nucleotide variant not provided [RCV001708773] Chr19:10361301 [GRCh38]
Chr19:10471977 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.114C>T (p.Gly38=) single nucleotide variant Immunodeficiency 35 [RCV001045826] Chr19:10378293 [GRCh38]
Chr19:10488969 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.200C>G (p.Thr67Ser) single nucleotide variant Immunodeficiency 35 [RCV001042380] Chr19:10368412 [GRCh38]
Chr19:10479088 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp) single nucleotide variant Immunodeficiency 35 [RCV001042442] Chr19:10365837 [GRCh38]
Chr19:10476513 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.1548G>A (p.Leu516=) single nucleotide variant Immunodeficiency 35 [RCV001208586] Chr19:10362385 [GRCh38]
Chr19:10473061 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.2036G>C (p.Arg679Pro) single nucleotide variant Immunodeficiency 35 [RCV001039676]|not provided [RCV003222200] Chr19:10361522 [GRCh38]
Chr19:10472198 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3236A>G (p.Tyr1079Cys) single nucleotide variant Immunodeficiency 35 [RCV001124526] Chr19:10352516 [GRCh38]
Chr19:10463192 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2038G>A (p.Gly680Ser) single nucleotide variant Immunodeficiency 35 [RCV001124615] Chr19:10361520 [GRCh38]
Chr19:10472196 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2171A>C (p.Tyr724Ser) single nucleotide variant Immunodeficiency 35 [RCV001235120] Chr19:10359179 [GRCh38]
Chr19:10469855 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1255C>G (p.Leu419Val) single nucleotide variant Immunodeficiency 35 [RCV001206961] Chr19:10364726 [GRCh38]
Chr19:10475402 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1388A>G (p.Lys463Arg) single nucleotide variant Immunodeficiency 35 [RCV001232595] Chr19:10362637 [GRCh38]
Chr19:10473313 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.370C>T (p.Arg124Cys) single nucleotide variant Immunodeficiency 35 [RCV001122034]|Inborn genetic diseases [RCV003163276] Chr19:10368150 [GRCh38]
Chr19:10478826 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.-322C>T single nucleotide variant Immunodeficiency 35 [RCV001125792] Chr19:10380516 [GRCh38]
Chr19:10491192 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1207C>G (p.Leu403Val) single nucleotide variant Immunodeficiency 35 [RCV001055706] Chr19:10364853 [GRCh38]
Chr19:10475529 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.658C>T (p.Arg220Cys) single nucleotide variant Immunodeficiency 35 [RCV001053900] Chr19:10365870 [GRCh38]
Chr19:10476546 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.*19C>T single nucleotide variant Immunodeficiency 35 [RCV001123431] Chr19:10350815 [GRCh38]
Chr19:10461491 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.3011C>G (p.Ala1004Gly) single nucleotide variant Immunodeficiency 35 [RCV001064713] Chr19:10353544 [GRCh38]
Chr19:10464220 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1254G>A (p.Ser418=) single nucleotide variant Immunodeficiency 35 [RCV001123631] Chr19:10364727 [GRCh38]
Chr19:10475403 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.2716-13C>A single nucleotide variant Immunodeficiency 35 [RCV001127629] Chr19:10354247 [GRCh38]
Chr19:10464923 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.372T>C (p.Arg124=) single nucleotide variant Immunodeficiency 35 [RCV001127811]|TYK2-related condition [RCV003938480] Chr19:10368148 [GRCh38]
Chr19:10478824 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.861G>T (p.Glu287Asp) single nucleotide variant Immunodeficiency 35 [RCV001210709] Chr19:10365667 [GRCh38]
Chr19:10476343 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1156G>A (p.Val386Met) single nucleotide variant Immunodeficiency 35 [RCV001248048] Chr19:10364904 [GRCh38]
Chr19:10475580 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2503G>C (p.Glu835Gln) single nucleotide variant Immunodeficiency 35 [RCV001203936] Chr19:10356682 [GRCh38]
Chr19:10467358 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.-79C>G single nucleotide variant Immunodeficiency 35 [RCV001124801] Chr19:10379673 [GRCh38]
Chr19:10490349 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.-145C>T single nucleotide variant Immunodeficiency 35 [RCV001124802] Chr19:10379739 [GRCh38]
Chr19:10490415 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.328C>T (p.Arg110Trp) single nucleotide variant Immunodeficiency 35 [RCV001122036] Chr19:10368192 [GRCh38]
Chr19:10478868 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3201-15C>T single nucleotide variant Immunodeficiency 35 [RCV001125533] Chr19:10352566 [GRCh38]
Chr19:10463242 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.3200+11G>A single nucleotide variant Immunodeficiency 35 [RCV001125534] Chr19:10352915 [GRCh38]
Chr19:10463591 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.727C>T (p.Arg243Trp) single nucleotide variant Immunodeficiency 35 [RCV001125708] Chr19:10365801 [GRCh38]
Chr19:10476477 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.11G>A (p.Arg4His) single nucleotide variant Immunodeficiency 35 [RCV001231066] Chr19:10378396 [GRCh38]
Chr19:10489072 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1579C>T (p.Arg527Trp) single nucleotide variant Immunodeficiency 35 [RCV001313410] Chr19:10362354 [GRCh38]
Chr19:10473030 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.187A>G (p.Lys63Glu) single nucleotide variant Immunodeficiency 35 [RCV001313453] Chr19:10378220 [GRCh38]
Chr19:10488896 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3542C>T (p.Pro1181Leu) single nucleotide variant Immunodeficiency 35 [RCV001349521] Chr19:10350856 [GRCh38]
Chr19:10461532 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1404C>T (p.Asp468=) single nucleotide variant Immunodeficiency 35 [RCV001334131] Chr19:10362621 [GRCh38]
Chr19:10473297 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.194-132C>T single nucleotide variant not provided [RCV001540140] Chr19:10368550 [GRCh38]
Chr19:10479226 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.466-154del deletion not provided [RCV001536282] Chr19:10366734 [GRCh38]
Chr19:10477410 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.629+21G>A single nucleotide variant not provided [RCV001642037] Chr19:10366396 [GRCh38]
Chr19:10477072 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.1535G>A (p.Gly512Glu) single nucleotide variant Immunodeficiency 35 [RCV001341555] Chr19:10362398 [GRCh38]
Chr19:10473074 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2293G>A (p.Gly765Ser) single nucleotide variant Immunodeficiency 35 [RCV001320027] Chr19:10358021 [GRCh38]
Chr19:10468697 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2648A>G (p.Asp883Gly) single nucleotide variant Immunodeficiency 35 [RCV001301628]|Inborn genetic diseases [RCV002543087] Chr19:10354579 [GRCh38]
Chr19:10465255 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.735C>G (p.Phe245Leu) single nucleotide variant Immunodeficiency 35 [RCV001327031] Chr19:10365793 [GRCh38]
Chr19:10476469 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.859G>A (p.Glu287Lys) single nucleotide variant Immunodeficiency 35 [RCV001367269] Chr19:10365669 [GRCh38]
Chr19:10476345 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.193+5G>C single nucleotide variant Immunodeficiency 35 [RCV001370212] Chr19:10378209 [GRCh38]
Chr19:10488885 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2902G>T (p.Asp968Tyr) single nucleotide variant Immunodeficiency 35 [RCV001374130] Chr19:10354048 [GRCh38]
Chr19:10464724 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2068G>A (p.Val690Met) single nucleotide variant Immunodeficiency 35 [RCV001368143] Chr19:10359282 [GRCh38]
Chr19:10469958 [GRCh37]
Chr19:19p13.2		 uncertain significance
P1104A variation Immunodeficiency 35 [RCV001375493] Chr19:19p13.2 pathogenic
NM_003331.5(TYK2):c.2184G>A (p.Lys728=) single nucleotide variant Immunodeficiency 35 [RCV001422617] Chr19:10358130 [GRCh38]
Chr19:10468806 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.490G>A (p.Val164Met) single nucleotide variant Immunodeficiency 35 [RCV001370170] Chr19:10366556 [GRCh38]
Chr19:10477232 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1913G>T (p.Arg638Leu) single nucleotide variant Immunodeficiency 35 [RCV001370681] Chr19:10361816 [GRCh38]
Chr19:10472492 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.570C>T (p.His190=) single nucleotide variant Immunodeficiency 35 [RCV001433216] Chr19:10366476 [GRCh38]
Chr19:10477152 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2637T>C (p.Thr879=) single nucleotide variant Immunodeficiency 35 [RCV001422760] Chr19:10354590 [GRCh38]
Chr19:10465266 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.935C>T (p.Pro312Leu) single nucleotide variant Immunodeficiency 35 [RCV001349886] Chr19:10365593 [GRCh38]
Chr19:10476269 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1841G>A (p.Gly614Glu) single nucleotide variant Immunodeficiency 35 [RCV001294945] Chr19:10361888 [GRCh38]
Chr19:10472564 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3359C>G (p.Thr1120Arg) single nucleotide variant Immunodeficiency 35 [RCV001327154] Chr19:10351122 [GRCh38]
Chr19:10461798 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2716-3C>T single nucleotide variant Immunodeficiency 35 [RCV001319925] Chr19:10354237 [GRCh38]
Chr19:10464913 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1229G>A (p.Arg410Gln) single nucleotide variant Immunodeficiency 35 [RCV001341984] Chr19:10364752 [GRCh38]
Chr19:10475428 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2974C>T (p.Arg992Trp) single nucleotide variant Immunodeficiency 35 [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 Immunodeficiency 35 [RCV001299251] Chr19:10366556 [GRCh38]
Chr19:10477232 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.937A>G (p.Thr313Ala) single nucleotide variant Immunodeficiency 35 [RCV001323121] Chr19:10365591 [GRCh38]
Chr19:10476267 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.359C>T (p.Pro120Leu) single nucleotide variant Immunodeficiency 35 [RCV001307862]|Inborn genetic diseases [RCV003166753] Chr19:10368161 [GRCh38]
Chr19:10478837 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1954G>A (p.Ala652Thr) single nucleotide variant Immunodeficiency 35 [RCV001320708] Chr19:10361775 [GRCh38]
Chr19:10472451 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.55G>A (p.Ala19Thr) single nucleotide variant Immunodeficiency 35 [RCV001346268] Chr19:10378352 [GRCh38]
Chr19:10489028 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.985G>A (p.Val329Ile) single nucleotide variant Immunodeficiency 35 [RCV001305990] Chr19:10365543 [GRCh38]
Chr19:10476219 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1324C>T (p.Arg442Trp) single nucleotide variant Immunodeficiency 35 [RCV001339107] Chr19:10364657 [GRCh38]
Chr19:10475333 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.821G>A (p.Arg274His) single nucleotide variant Immunodeficiency 35 [RCV001300762] Chr19:10365707 [GRCh38]
Chr19:10476383 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1297T>C (p.Tyr433His) single nucleotide variant Immunodeficiency 35 [RCV001323455] Chr19:10364684 [GRCh38]
Chr19:10475360 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.277A>T (p.Ile93Phe) single nucleotide variant Immunodeficiency 35 [RCV001323474]|Inborn genetic diseases [RCV003166889] Chr19:10368335 [GRCh38]
Chr19:10479011 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.179T>C (p.Ile60Thr) single nucleotide variant Immunodeficiency 35 [RCV001344387] Chr19:10378228 [GRCh38]
Chr19:10488904 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2885A>G (p.Tyr962Cys) single nucleotide variant Immunodeficiency 35 [RCV001304591] Chr19:10354065 [GRCh38]
Chr19:10464741 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.698G>A (p.Arg233His) single nucleotide variant Immunodeficiency 35 [RCV001325140] Chr19:10365830 [GRCh38]
Chr19:10476506 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.281C>G (p.Pro94Arg) single nucleotide variant Immunodeficiency 35 [RCV001295736] Chr19:10368331 [GRCh38]
Chr19:10479007 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2966A>G (p.Tyr989Cys) single nucleotide variant Immunodeficiency 35 [RCV001337437] Chr19:10353589 [GRCh38]
Chr19:10464265 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1691T>G (p.Met564Arg) single nucleotide variant Immunodeficiency 35 [RCV001299742] Chr19:10362160 [GRCh38]
Chr19:10472836 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1055T>C (p.Phe352Ser) single nucleotide variant Immunodeficiency 35 [RCV001345603] Chr19:10365005 [GRCh38]
Chr19:10475681 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3076G>A (p.Ala1026Thr) single nucleotide variant Immunodeficiency 35 [RCV001305278] Chr19:10353050 [GRCh38]
Chr19:10463726 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2435A>G (p.Glu812Gly) single nucleotide variant Immunodeficiency 35 [RCV001352336] Chr19:10357795 [GRCh38]
Chr19:10468471 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2035C>T (p.Arg679Cys) single nucleotide variant Immunodeficiency 35 [RCV001364910] Chr19:10361523 [GRCh38]
Chr19:10472199 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.232G>A (p.Asp78Asn) single nucleotide variant Immunodeficiency 35 [RCV001368942] Chr19:10368380 [GRCh38]
Chr19:10479056 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2404G>A (p.Ala802Thr) single nucleotide variant Immunodeficiency 35 [RCV001361987] Chr19:10357826 [GRCh38]
Chr19:10468502 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.820C>T (p.Arg274Cys) single nucleotide variant Immunodeficiency 35 [RCV001362474] Chr19:10365708 [GRCh38]
Chr19:10476384 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2230C>A (p.Arg744=) single nucleotide variant Immunodeficiency 35 [RCV001362685]|TYK2-related condition [RCV003898345] Chr19:10358084 [GRCh38]
Chr19:10468760 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.1699G>A (p.Ala567Thr) single nucleotide variant Immunodeficiency 35 [RCV001372736] Chr19:10362152 [GRCh38]
Chr19:10472828 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2176-3C>T single nucleotide variant Immunodeficiency 35 [RCV001362975] Chr19:10358141 [GRCh38]
Chr19:10468817 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2099G>A (p.Arg700Gln) single nucleotide variant Immunodeficiency 35 [RCV001363142]|not provided [RCV001751715] Chr19:10359251 [GRCh38]
Chr19:10469927 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1142G>A (p.Arg381Gln) single nucleotide variant Immunodeficiency 35 [RCV001324608] Chr19:10364918 [GRCh38]
Chr19:10475594 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1882G>A (p.Val628Met) single nucleotide variant Immunodeficiency 35 [RCV001326198] Chr19:10361847 [GRCh38]
Chr19:10472523 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.537T>C (p.Phe179=) single nucleotide variant Immunodeficiency 35 [RCV001481519] Chr19:10366509 [GRCh38]
Chr19:10477185 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2977C>T (p.His993Tyr) single nucleotide variant Immunodeficiency 35 [RCV001402078] Chr19:10353578 [GRCh38]
Chr19:10464254 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1278G>T (p.Leu426=) single nucleotide variant Immunodeficiency 35 [RCV001495977] Chr19:10364703 [GRCh38]
Chr19:10475379 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2946C>A (p.Pro982=) single nucleotide variant Immunodeficiency 35 [RCV001492472] Chr19:10353609 [GRCh38]
Chr19:10464285 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1533C>T (p.Asp511=) single nucleotide variant Immunodeficiency 35 [RCV001486302] Chr19:10362400 [GRCh38]
Chr19:10473076 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1107G>A (p.Pro369=) single nucleotide variant Immunodeficiency 35 [RCV001496872] Chr19:10364953 [GRCh38]
Chr19:10475629 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.57C>T (p.Ala19=) single nucleotide variant Immunodeficiency 35 [RCV001485272] Chr19:10378350 [GRCh38]
Chr19:10489026 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.430C>T (p.Leu144=) single nucleotide variant Immunodeficiency 35 [RCV001474346] Chr19:10368090 [GRCh38]
Chr19:10478766 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2316G>T (p.Arg772=) single nucleotide variant Immunodeficiency 35 [RCV001459836] Chr19:10357914 [GRCh38]
Chr19:10468590 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1878C>T (p.Pro626=) single nucleotide variant Immunodeficiency 35 [RCV001497807] Chr19:10361851 [GRCh38]
Chr19:10472527 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.477G>A (p.Glu159=) single nucleotide variant Immunodeficiency 35 [RCV001415782] Chr19:10366569 [GRCh38]
Chr19:10477245 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3198C>T (p.Phe1066=) single nucleotide variant Immunodeficiency 35 [RCV001493262] Chr19:10352928 [GRCh38]
Chr19:10463604 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1821C>G (p.Arg607=) single nucleotide variant Immunodeficiency 35 [RCV001470701]|not provided [RCV003416356] Chr19:10361908 [GRCh38]
Chr19:10472584 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3252C>A (p.Val1084=) single nucleotide variant Immunodeficiency 35 [RCV001457146] Chr19:10352500 [GRCh38]
Chr19:10463176 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3280C>T (p.Leu1094=) single nucleotide variant Immunodeficiency 35 [RCV001471244] Chr19:10352472 [GRCh38]
Chr19:10463148 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3411C>T (p.Pro1137=) single nucleotide variant Immunodeficiency 35 [RCV001469054] Chr19:10351070 [GRCh38]
Chr19:10461746 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1290C>T (p.Ser430=) single nucleotide variant Immunodeficiency 35 [RCV001440794] Chr19:10364691 [GRCh38]
Chr19:10475367 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2034G>A (p.Val678=) single nucleotide variant Immunodeficiency 35 [RCV001432588] Chr19:10361524 [GRCh38]
Chr19:10472200 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2047+1G>T single nucleotide variant Immunodeficiency 35 [RCV001379286] Chr19:10361510 [GRCh38]
Chr19:10472186 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_003331.5(TYK2):c.1896C>T (p.Asp632=) single nucleotide variant Immunodeficiency 35 [RCV001428863] Chr19:10361833 [GRCh38]
Chr19:10472509 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2573C>G (p.Ser858Ter) single nucleotide variant Immunodeficiency 35 [RCV001381281] Chr19:10356612 [GRCh38]
Chr19:10467288 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.2611C>T (p.Pro871Ser) single nucleotide variant Immunodeficiency 35 [RCV001438735] Chr19:10356574 [GRCh38]
Chr19:10467250 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1773+10G>C single nucleotide variant Immunodeficiency 35 [RCV001430550]|TYK2-related condition [RCV003938744] Chr19:10362068 [GRCh38]
Chr19:10472744 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1477-6_1477-5inv inversion Immunodeficiency 35 [RCV001446750] Chr19:10362461..10362462 [GRCh38]
Chr19:10473137..10473138 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.390C>T (p.Thr130=) single nucleotide variant Immunodeficiency 35 [RCV001410460] Chr19:10368130 [GRCh38]
Chr19:10478806 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2037C>T (p.Arg679=) single nucleotide variant Immunodeficiency 35 [RCV001418881] Chr19:10361521 [GRCh38]
Chr19:10472197 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1263C>T (p.Asp421=) single nucleotide variant Immunodeficiency 35 [RCV001393568] Chr19:10364718 [GRCh38]
Chr19:10475394 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.204T>C (p.Pro68=) single nucleotide variant Immunodeficiency 35 [RCV001424039] Chr19:10368408 [GRCh38]
Chr19:10479084 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1774-4G>A single nucleotide variant Immunodeficiency 35 [RCV001409070] Chr19:10361959 [GRCh38]
Chr19:10472635 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.465+262C>T single nucleotide variant not provided [RCV001581591] Chr19:10367793 [GRCh38]
Chr19:10478469 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.303A>G (p.Leu101=) single nucleotide variant Immunodeficiency 35 [RCV001478679] Chr19:10368309 [GRCh38]
Chr19:10478985 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2467-154C>T single nucleotide variant not provided [RCV001717190] Chr19:10356872 [GRCh38]
Chr19:10467548 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.1012-204T>C single nucleotide variant not provided [RCV001593373] Chr19:10365252 [GRCh38]
Chr19:10475928 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.465+308G>A single nucleotide variant not provided [RCV001588229] Chr19:10367747 [GRCh38]
Chr19:10478423 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1587T>C (p.Leu529=) single nucleotide variant Immunodeficiency 35 [RCV001496031] Chr19:10362346 [GRCh38]
Chr19:10473022 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1620C>G (p.Ala540=) single nucleotide variant Immunodeficiency 35 [RCV001465501] Chr19:10362313 [GRCh38]
Chr19:10472989 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2617+211A>G single nucleotide variant not provided [RCV001653191] Chr19:10356357 [GRCh38]
Chr19:10467033 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.1542C>T (p.Phe514=) single nucleotide variant Immunodeficiency 35 [RCV001479610] Chr19:10362391 [GRCh38]
Chr19:10473067 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.629+97dup duplication not provided [RCV001650021] Chr19:10366308..10366309 [GRCh38]
Chr19:10476984..10476985 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.3144G>T (p.Val1048=) single nucleotide variant Immunodeficiency 35 [RCV001463178] Chr19:10352982 [GRCh38]
Chr19:10463658 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1011+222A>T single nucleotide variant not provided [RCV001644107] Chr19:10365295 [GRCh38]
Chr19:10475971 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.1938T>C (p.Pro646=) single nucleotide variant Immunodeficiency 35 [RCV001453758] Chr19:10361791 [GRCh38]
Chr19:10472467 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2311+16G>C single nucleotide variant Immunodeficiency 35 [RCV001522724]|not provided [RCV001535232] Chr19:10357987 [GRCh38]
Chr19:10468663 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.660C>G (p.Arg220=) single nucleotide variant Immunodeficiency 35 [RCV001486777] Chr19:10365868 [GRCh38]
Chr19:10476544 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.681C>T (p.Ser227=) single nucleotide variant Immunodeficiency 35 [RCV001462599] Chr19:10365847 [GRCh38]
Chr19:10476523 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.411A>G (p.Thr137=) single nucleotide variant Immunodeficiency 35 [RCV001439753] Chr19:10368109 [GRCh38]
Chr19:10478785 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1773+17G>A single nucleotide variant Immunodeficiency 35 [RCV001460479] Chr19:10362061 [GRCh38]
Chr19:10472737 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1620C>T (p.Ala540=) single nucleotide variant Immunodeficiency 35 [RCV001442669] Chr19:10362313 [GRCh38]
Chr19:10472989 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2667T>C (p.Pro889=) single nucleotide variant Immunodeficiency 35 [RCV001458650] Chr19:10354560 [GRCh38]
Chr19:10465236 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1356C>T (p.His452=) single nucleotide variant Immunodeficiency 35 [RCV001512366] Chr19:10364625 [GRCh38]
Chr19:10475301 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.1599G>A (p.Leu533=) single nucleotide variant Immunodeficiency 35 [RCV001463165] Chr19:10362334 [GRCh38]
Chr19:10473010 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2076C>T (p.His692=) single nucleotide variant Immunodeficiency 35 [RCV001443591] Chr19:10359274 [GRCh38]
Chr19:10469950 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.630-3del deletion Immunodeficiency 35 [RCV001425640] Chr19:10365901 [GRCh38]
Chr19:10476577 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1503G>T (p.Arg501=) single nucleotide variant Immunodeficiency 35 [RCV001428054] Chr19:10362430 [GRCh38]
Chr19:10473106 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3009C>T (p.Phe1003=) single nucleotide variant Immunodeficiency 35 [RCV001456217] Chr19:10353546 [GRCh38]
Chr19:10464222 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.360G>A (p.Pro120=) single nucleotide variant Immunodeficiency 35 [RCV001479354] Chr19:10368160 [GRCh38]
Chr19:10478836 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.828C>T (p.Pro276=) single nucleotide variant Immunodeficiency 35 [RCV001441485] Chr19:10365700 [GRCh38]
Chr19:10476376 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.466-1G>A single nucleotide variant not provided [RCV001727070] Chr19:10366581 [GRCh38]
Chr19:10477257 [GRCh37]
Chr19:19p13.2		 likely pathogenic
GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3 copy number gain not provided [RCV001834267] Chr19:9941033..11739567 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.650G>A (p.Arg217His) single nucleotide variant Immunodeficiency 35 [RCV002540563]|not provided [RCV001773113] Chr19:10365878 [GRCh38]
Chr19:10476554 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.15C>G (p.His5Gln) single nucleotide variant not provided [RCV001772545] Chr19:10378392 [GRCh38]
Chr19:10489068 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.630-212G>A single nucleotide variant not provided [RCV001786186] Chr19:10366110 [GRCh38]
Chr19:10476786 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.406C>A (p.Gln136Lys) single nucleotide variant Immunodeficiency 35 [RCV001864505] Chr19:10368114 [GRCh38]
Chr19:10478790 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3418T>A (p.Cys1140Ser) single nucleotide variant Immunodeficiency 35 [RCV001864566] Chr19:10351063 [GRCh38]
Chr19:10461739 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2727C>T (p.Gly909=) single nucleotide variant Immunodeficiency 35 [RCV002023435] Chr19:10354223 [GRCh38]
Chr19:10464899 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.517GAG[2] (p.Glu175del) microsatellite Immunodeficiency 35 [RCV001949027] Chr19:10366521..10366523 [GRCh38]
Chr19:10477197..10477199 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.11G>C (p.Arg4Pro) single nucleotide variant Immunodeficiency 35 [RCV002024935] Chr19:10378396 [GRCh38]
Chr19:10489072 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3096C>A (p.Asp1032Glu) single nucleotide variant Immunodeficiency 35 [RCV001914569] Chr19:10353030 [GRCh38]
Chr19:10463706 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3200+13G>T single nucleotide variant Immunodeficiency 35 [RCV001894816] Chr19:10352913 [GRCh38]
Chr19:10463589 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3407G>A (p.Arg1136Gln) single nucleotide variant Immunodeficiency 35 [RCV001965653] Chr19:10351074 [GRCh38]
Chr19:10461750 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2273G>C (p.Ser758Thr) single nucleotide variant Immunodeficiency 35 [RCV001966011] Chr19:10358041 [GRCh38]
Chr19:10468717 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1393C>T (p.Arg465Trp) single nucleotide variant Immunodeficiency 35 [RCV001926973] Chr19:10362632 [GRCh38]
Chr19:10473308 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3386A>G (p.Glu1129Gly) single nucleotide variant Immunodeficiency 35 [RCV001965245] Chr19:10351095 [GRCh38]
Chr19:10461771 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1826G>A (p.Arg609Gln) single nucleotide variant Immunodeficiency 35 [RCV001909254] Chr19:10361903 [GRCh38]
Chr19:10472579 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.202C>G (p.Pro68Ala) single nucleotide variant Immunodeficiency 35 [RCV002001705] Chr19:10368410 [GRCh38]
Chr19:10479086 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1325G>A (p.Arg442Gln) single nucleotide variant Immunodeficiency 35 [RCV001946186] Chr19:10364656 [GRCh38]
Chr19:10475332 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1543G>A (p.Val515Met) single nucleotide variant Immunodeficiency 35 [RCV001870989] Chr19:10362390 [GRCh38]
Chr19:10473066 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3325C>T (p.Leu1109Phe) single nucleotide variant Immunodeficiency 35 [RCV002021353] Chr19:10351156 [GRCh38]
Chr19:10461832 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2603G>A (p.Arg868Gln) single nucleotide variant Immunodeficiency 35 [RCV001967101] Chr19:10356582 [GRCh38]
Chr19:10467258 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.709G>T (p.Val237Phe) single nucleotide variant Immunodeficiency 35 [RCV002006230] Chr19:10365819 [GRCh38]
Chr19:10476495 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_10463090)_(10465305_?)del deletion Immunodeficiency 35 [RCV001982916] Chr19:10463090..10465305 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.193+184_193+203del deletion not provided [RCV001840855] Chr19:10378011..10378030 [GRCh38]
Chr19:10488687..10488706 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1534G>C (p.Gly512Arg) single nucleotide variant Immunodeficiency 35 [RCV001894709] Chr19:10362399 [GRCh38]
Chr19:10473075 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.194-19C>A single nucleotide variant Immunodeficiency 35 [RCV001947239] Chr19:10368437 [GRCh38]
Chr19:10479113 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.2437G>T (p.Ala813Ser) single nucleotide variant Immunodeficiency 35 [RCV001969644] Chr19:10357793 [GRCh38]
Chr19:10468469 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2380G>A (p.Ala794Thr) single nucleotide variant Immunodeficiency 35 [RCV001893506] Chr19:10357850 [GRCh38]
Chr19:10468526 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3349G>T (p.Gly1117Cys) single nucleotide variant Immunodeficiency 35 [RCV001894334] Chr19:10351132 [GRCh38]
Chr19:10461808 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.835C>A (p.His279Asn) single nucleotide variant Immunodeficiency 35 [RCV001892450] Chr19:10365693 [GRCh38]
Chr19:10476369 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1925A>G (p.Lys642Arg) single nucleotide variant Immunodeficiency 35 [RCV001872815] Chr19:10361804 [GRCh38]
Chr19:10472480 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1877C>A (p.Pro626His) single nucleotide variant Immunodeficiency 35 [RCV001909332] Chr19:10361852 [GRCh38]
Chr19:10472528 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.739C>T (p.Pro247Ser) single nucleotide variant Immunodeficiency 35 [RCV001909163] Chr19:10365789 [GRCh38]
Chr19:10476465 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2393G>A (p.Trp798Ter) single nucleotide variant Immunodeficiency 35 [RCV001926999]|not provided [RCV003312024] Chr19:10357837 [GRCh38]
Chr19:10468513 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.2900A>G (p.Glu967Gly) single nucleotide variant Immunodeficiency 35 [RCV001912009] Chr19:10354050 [GRCh38]
Chr19:10464726 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1292G>A (p.Ser431Asn) single nucleotide variant Immunodeficiency 35 [RCV001912292] Chr19:10364689 [GRCh38]
Chr19:10475365 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2306G>A (p.Arg769Lys) single nucleotide variant Immunodeficiency 35 [RCV002023622] Chr19:10358008 [GRCh38]
Chr19:10468684 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.932C>T (p.Pro311Leu) single nucleotide variant Immunodeficiency 35 [RCV001908203] Chr19:10365596 [GRCh38]
Chr19:10476272 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3556G>A (p.Val1186Met) single nucleotide variant Immunodeficiency 35 [RCV002002230] Chr19:10350842 [GRCh38]
Chr19:10461518 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3326T>G (p.Leu1109Arg) single nucleotide variant Immunodeficiency 35 [RCV001912057] Chr19:10351155 [GRCh38]
Chr19:10461831 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.703C>T (p.Arg235Trp) single nucleotide variant Immunodeficiency 35 [RCV001942668] Chr19:10365825 [GRCh38]
Chr19:10476501 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2986G>C (p.Gly996Arg) single nucleotide variant Immunodeficiency 35 [RCV001943978]|Inborn genetic diseases [RCV002562053] Chr19:10353569 [GRCh38]
Chr19:10464245 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1011+3G>A single nucleotide variant Immunodeficiency 35 [RCV001943995] Chr19:10365514 [GRCh38]
Chr19:10476190 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2360G>A (p.Gly787Glu) single nucleotide variant Immunodeficiency 35 [RCV001907465] Chr19:10357870 [GRCh38]
Chr19:10468546 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1773+1G>T single nucleotide variant Immunodeficiency 35 [RCV002029631] Chr19:10362077 [GRCh38]
Chr19:10472753 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_003331.5(TYK2):c.1466A>G (p.Gln489Arg) single nucleotide variant Immunodeficiency 35 [RCV001883903] Chr19:10362559 [GRCh38]
Chr19:10473235 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.806G>A (p.Arg269His) single nucleotide variant Immunodeficiency 35 [RCV001981737] Chr19:10365722 [GRCh38]
Chr19:10476398 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1748G>A (p.Arg583Gln) single nucleotide variant Immunodeficiency 35 [RCV002001316]|Inborn genetic diseases [RCV003170422] Chr19:10362103 [GRCh38]
Chr19:10472779 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_10488870)_(10489082_?)dup duplication Immunodeficiency 35 [RCV002017003] Chr19:10488870..10489082 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.43G>A (p.Val15Ile) single nucleotide variant Immunodeficiency 35 [RCV001887403] Chr19:10378364 [GRCh38]
Chr19:10489040 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.125C>T (p.Pro42Leu) single nucleotide variant Immunodeficiency 35 [RCV001931740] Chr19:10378282 [GRCh38]
Chr19:10488958 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.749T>C (p.Leu250Pro) single nucleotide variant Immunodeficiency 35 [RCV001888729] Chr19:10365779 [GRCh38]
Chr19:10476455 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.260C>T (p.Pro87Leu) single nucleotide variant Immunodeficiency 35 [RCV001998415] Chr19:10368352 [GRCh38]
Chr19:10479028 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2017G>A (p.Val673Met) single nucleotide variant Immunodeficiency 35 [RCV002030406] Chr19:10361541 [GRCh38]
Chr19:10472217 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3520G>A (p.Glu1174Lys) single nucleotide variant Immunodeficiency 35 [RCV002033817] Chr19:10350878 [GRCh38]
Chr19:10461554 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1273C>T (p.Arg425Cys) single nucleotide variant Immunodeficiency 35 [RCV001923507] Chr19:10364708 [GRCh38]
Chr19:10475384 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.378G>A (p.Gly126=) single nucleotide variant Immunodeficiency 35 [RCV001941761] Chr19:10368142 [GRCh38]
Chr19:10478818 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2138T>G (p.Val713Gly) single nucleotide variant Immunodeficiency 35 [RCV001956967] Chr19:10359212 [GRCh38]
Chr19:10469888 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.16T>A (p.Trp6Arg) single nucleotide variant Immunodeficiency 35 [RCV001933686] Chr19:10378391 [GRCh38]
Chr19:10489067 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2935G>A (p.Glu979Lys) single nucleotide variant Immunodeficiency 35 [RCV001951673] Chr19:10353620 [GRCh38]
Chr19:10464296 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1653C>G (p.Cys551Trp) single nucleotide variant Immunodeficiency 35 [RCV001994964] Chr19:10362280 [GRCh38]
Chr19:10472956 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1011+11C>T single nucleotide variant Immunodeficiency 35 [RCV001897835] Chr19:10365506 [GRCh38]
Chr19:10476182 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2036G>A (p.Arg679His) single nucleotide variant Immunodeficiency 35 [RCV001923019] Chr19:10361522 [GRCh38]
Chr19:10472198 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_10461510)_(10461858_?)dup duplication Immunodeficiency 35 [RCV001883084] Chr19:10461510..10461858 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.352C>A (p.Arg118=) single nucleotide variant Immunodeficiency 35 [RCV002033369] Chr19:10368168 [GRCh38]
Chr19:10478844 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.859G>C (p.Glu287Gln) single nucleotide variant Immunodeficiency 35 [RCV001881158] Chr19:10365669 [GRCh38]
Chr19:10476345 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2344G>A (p.Glu782Lys) single nucleotide variant Immunodeficiency 35 [RCV002015258] Chr19:10357886 [GRCh38]
Chr19:10468562 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3544T>C (p.Ser1182Pro) single nucleotide variant Immunodeficiency 35 [RCV001995277] Chr19:10350854 [GRCh38]
Chr19:10461530 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1280C>T (p.Thr427Met) single nucleotide variant Immunodeficiency 35 [RCV001922725] Chr19:10364701 [GRCh38]
Chr19:10475377 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3178G>C (p.Asp1060His) single nucleotide variant Immunodeficiency 35 [RCV001901052] Chr19:10352948 [GRCh38]
Chr19:10463624 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.248T>C (p.Val83Ala) single nucleotide variant Immunodeficiency 35 [RCV001936082] Chr19:10368364 [GRCh38]
Chr19:10479040 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1151C>G (p.Thr384Ser) single nucleotide variant Immunodeficiency 35 [RCV001957309] Chr19:10364909 [GRCh38]
Chr19:10475585 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.704G>A (p.Arg235Gln) single nucleotide variant Immunodeficiency 35 [RCV001991685] Chr19:10365824 [GRCh38]
Chr19:10476500 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2188C>G (p.Leu730Val) single nucleotide variant Immunodeficiency 35 [RCV001901095] Chr19:10358126 [GRCh38]
Chr19:10468802 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.517G>A (p.Glu173Lys) single nucleotide variant Immunodeficiency 35 [RCV001918563] Chr19:10366529 [GRCh38]
Chr19:10477205 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3200+5C>T single nucleotide variant Immunodeficiency 35 [RCV001897443] Chr19:10352921 [GRCh38]
Chr19:10463597 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2339C>T (p.Ala780Val) single nucleotide variant Immunodeficiency 35 [RCV002012594] Chr19:10357891 [GRCh38]
Chr19:10468567 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.118G>A (p.Gly40Arg) single nucleotide variant Immunodeficiency 35 [RCV001921564] Chr19:10378289 [GRCh38]
Chr19:10488965 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2908+4G>A single nucleotide variant Immunodeficiency 35 [RCV001878409] Chr19:10354038 [GRCh38]
Chr19:10464714 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2011G>A (p.Ala671Thr) single nucleotide variant Immunodeficiency 35 [RCV001902399]|Inborn genetic diseases [RCV002552168] Chr19:10361547 [GRCh38]
Chr19:10472223 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1627G>A (p.Asp543Asn) single nucleotide variant Immunodeficiency 35 [RCV001938341]|Inborn genetic diseases [RCV002557757] Chr19:10362306 [GRCh38]
Chr19:10472982 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2953A>T (p.Ser985Cys) single nucleotide variant Immunodeficiency 35 [RCV002019350] Chr19:10353602 [GRCh38]
Chr19:10464278 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2032G>A (p.Val678Met) single nucleotide variant Immunodeficiency 35 [RCV001999346] Chr19:10361526 [GRCh38]
Chr19:10472202 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1643G>T (p.Arg548Leu) single nucleotide variant Immunodeficiency 35 [RCV002010404] Chr19:10362290 [GRCh38]
Chr19:10472966 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3481A>G (p.Thr1161Ala) single nucleotide variant Immunodeficiency 35 [RCV002014375] Chr19:10350917 [GRCh38]
Chr19:10461593 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1662A>G (p.Gln554=) single nucleotide variant Immunodeficiency 35 [RCV001980086] Chr19:10362271 [GRCh38]
Chr19:10472947 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.1887T>A (p.Pro629=) single nucleotide variant Immunodeficiency 35 [RCV002051049] Chr19:10361842 [GRCh38]
Chr19:10472518 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.572T>C (p.Leu191Pro) single nucleotide variant Immunodeficiency 35 [RCV002035171] Chr19:10366474 [GRCh38]
Chr19:10477150 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2792C>T (p.Ala931Val) single nucleotide variant Immunodeficiency 35 [RCV002036313] Chr19:10354158 [GRCh38]
Chr19:10464834 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3385G>C (p.Glu1129Gln) single nucleotide variant Immunodeficiency 35 [RCV001903144] Chr19:10351096 [GRCh38]
Chr19:10461772 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2495G>A (p.Arg832Gln) single nucleotide variant Immunodeficiency 35 [RCV001925933] Chr19:10356690 [GRCh38]
Chr19:10467366 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1322C>G (p.Pro441Arg) single nucleotide variant Immunodeficiency 35 [RCV002047447] Chr19:10364659 [GRCh38]
Chr19:10475335 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2458C>A (p.Pro820Thr) single nucleotide variant Immunodeficiency 35 [RCV001922961] Chr19:10357772 [GRCh38]
Chr19:10468448 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2629G>A (p.Val877Ile) single nucleotide variant Immunodeficiency 35 [RCV001979132] Chr19:10354598 [GRCh38]
Chr19:10465274 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2315G>A (p.Arg772Gln) single nucleotide variant Immunodeficiency 35 [RCV001905506] Chr19:10357915 [GRCh38]
Chr19:10468591 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3070C>A (p.Leu1024Ile) single nucleotide variant Immunodeficiency 35 [RCV001906695]|Inborn genetic diseases [RCV002555407] Chr19:10353056 [GRCh38]
Chr19:10463732 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2176-10C>A single nucleotide variant Immunodeficiency 35 [RCV001866787] Chr19:10358148 [GRCh38]
Chr19:10468824 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.3242C>G (p.Ala1081Gly) single nucleotide variant Immunodeficiency 35 [RCV001995235] Chr19:10352510 [GRCh38]
Chr19:10463186 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.692G>C (p.Arg231Pro) single nucleotide variant Immunodeficiency 35 [RCV001904446] Chr19:10365836 [GRCh38]
Chr19:10476512 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.938C>T (p.Thr313Ile) single nucleotide variant Immunodeficiency 35 [RCV001935888] Chr19:10365590 [GRCh38]
Chr19:10476266 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3388C>G (p.Arg1130Gly) single nucleotide variant Immunodeficiency 35 [RCV001990579] Chr19:10351093 [GRCh38]
Chr19:10461769 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.316A>C (p.Arg106=) single nucleotide variant Immunodeficiency 35 [RCV001979701] Chr19:10368296 [GRCh38]
Chr19:10478972 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1678A>C (p.Asn560His) single nucleotide variant Immunodeficiency 35 [RCV001905519] Chr19:10362173 [GRCh38]
Chr19:10472849 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1642C>T (p.Arg548Cys) single nucleotide variant Immunodeficiency 35 [RCV001961312] Chr19:10362291 [GRCh38]
Chr19:10472967 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3149A>C (p.Glu1050Ala) single nucleotide variant Immunodeficiency 35 [RCV001980950] Chr19:10352977 [GRCh38]
Chr19:10463653 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2528C>T (p.Thr843Ile) single nucleotide variant Immunodeficiency 35 [RCV001924408] Chr19:10356657 [GRCh38]
Chr19:10467333 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1459G>A (p.Val487Met) single nucleotide variant Immunodeficiency 35 [RCV001940579] Chr19:10362566 [GRCh38]
Chr19:10473242 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1978A>G (p.Ser660Gly) single nucleotide variant Immunodeficiency 35 [RCV001864741] Chr19:10361580 [GRCh38]
Chr19:10472256 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.373T>C (p.Cys125Arg) single nucleotide variant Immunodeficiency 35 [RCV001994402] Chr19:10368147 [GRCh38]
Chr19:10478823 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1274G>A (p.Arg425His) single nucleotide variant Immunodeficiency 35 [RCV001919382] Chr19:10364707 [GRCh38]
Chr19:10475383 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1670-3C>G single nucleotide variant Immunodeficiency 35 [RCV001994448] Chr19:10362184 [GRCh38]
Chr19:10472860 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2821C>G (p.Arg941Gly) single nucleotide variant Immunodeficiency 35 [RCV001917820] Chr19:10354129 [GRCh38]
Chr19:10464805 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.697C>T (p.Arg233Cys) single nucleotide variant Immunodeficiency 35 [RCV001955690] Chr19:10365831 [GRCh38]
Chr19:10476507 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2204T>C (p.Val735Ala) single nucleotide variant Immunodeficiency 35 [RCV002047266]|Inborn genetic diseases [RCV003164045] Chr19:10358110 [GRCh38]
Chr19:10468786 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.286G>T (p.Asp96Tyr) single nucleotide variant Immunodeficiency 35 [RCV001977894] Chr19:10368326 [GRCh38]
Chr19:10479002 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3429+20T>C single nucleotide variant Immunodeficiency 35 [RCV002073674] Chr19:10351032 [GRCh38]
Chr19:10461708 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3279G>A (p.Glu1093=) single nucleotide variant Immunodeficiency 35 [RCV002075705] Chr19:10352473 [GRCh38]
Chr19:10463149 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1670-16T>C single nucleotide variant Immunodeficiency 35 [RCV002148331] Chr19:10362197 [GRCh38]
Chr19:10472873 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1116A>G (p.Pro372=) single nucleotide variant Immunodeficiency 35 [RCV002207794] Chr19:10364944 [GRCh38]
Chr19:10475620 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.317+13C>T single nucleotide variant Immunodeficiency 35 [RCV002071609] Chr19:10368282 [GRCh38]
Chr19:10478958 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3270C>G (p.Thr1090=) single nucleotide variant Immunodeficiency 35 [RCV002185578] Chr19:10352482 [GRCh38]
Chr19:10463158 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2312-20C>T single nucleotide variant Immunodeficiency 35 [RCV002148928] Chr19:10357938 [GRCh38]
Chr19:10468614 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3201-5C>G single nucleotide variant Immunodeficiency 35 [RCV002087588] Chr19:10352556 [GRCh38]
Chr19:10463232 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2716-19C>T single nucleotide variant Immunodeficiency 35 [RCV002186972] Chr19:10354253 [GRCh38]
Chr19:10464929 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2617+14C>A single nucleotide variant Immunodeficiency 35 [RCV002128710] Chr19:10356554 [GRCh38]
Chr19:10467230 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1749G>A (p.Arg583=) single nucleotide variant Immunodeficiency 35 [RCV002108045] Chr19:10362102 [GRCh38]
Chr19:10472778 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3318+17C>A single nucleotide variant Immunodeficiency 35 [RCV002074755] Chr19:10352417 [GRCh38]
Chr19:10463093 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2151G>A (p.Gln717=) single nucleotide variant Immunodeficiency 35 [RCV002206984] Chr19:10359199 [GRCh38]
Chr19:10469875 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2909-20G>C single nucleotide variant Immunodeficiency 35 [RCV002086925] Chr19:10353666 [GRCh38]
Chr19:10464342 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2502C>T (p.Pro834=) single nucleotide variant Immunodeficiency 35 [RCV002091239] Chr19:10356683 [GRCh38]
Chr19:10467359 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3028-4C>T single nucleotide variant Immunodeficiency 35 [RCV002109802] Chr19:10353102 [GRCh38]
Chr19:10463778 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.318-16_318-15insTTTTATT insertion Immunodeficiency 35 [RCV002174171] Chr19:10368217..10368218 [GRCh38]
Chr19:10478893..10478894 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2048-8C>T single nucleotide variant Immunodeficiency 35 [RCV002117235] Chr19:10359310 [GRCh38]
Chr19:10469986 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2311+10T>C single nucleotide variant Immunodeficiency 35 [RCV002134531] Chr19:10357993 [GRCh38]
Chr19:10468669 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3372C>G (p.Leu1124=) single nucleotide variant Immunodeficiency 35 [RCV002108871] Chr19:10351109 [GRCh38]
Chr19:10461785 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.219C>T (p.Leu73=) single nucleotide variant Immunodeficiency 35 [RCV002113103] Chr19:10368393 [GRCh38]
Chr19:10479069 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3200+9G>A single nucleotide variant Immunodeficiency 35 [RCV002094917] Chr19:10352917 [GRCh38]
Chr19:10463593 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1245C>G (p.Ser415=) single nucleotide variant Immunodeficiency 35 [RCV002188916] Chr19:10364736 [GRCh38]
Chr19:10475412 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1774-16C>T single nucleotide variant Immunodeficiency 35 [RCV002175106] Chr19:10361971 [GRCh38]
Chr19:10472647 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1012-5T>C single nucleotide variant Immunodeficiency 35 [RCV002174061] Chr19:10365053 [GRCh38]
Chr19:10475729 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1774-12A>G single nucleotide variant Immunodeficiency 35 [RCV002117389] Chr19:10361967 [GRCh38]
Chr19:10472643 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3201-11_3201-10dup duplication Immunodeficiency 35 [RCV002215198] Chr19:10352560..10352561 [GRCh38]
Chr19:10463236..10463237 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.194-4C>G single nucleotide variant Immunodeficiency 35 [RCV002080131] Chr19:10368422 [GRCh38]
Chr19:10479098 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.844C>T (p.Leu282=) single nucleotide variant Immunodeficiency 35 [RCV002195478]|not provided [RCV003418366] Chr19:10365684 [GRCh38]
Chr19:10476360 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.466-19C>T single nucleotide variant Immunodeficiency 35 [RCV002095457] Chr19:10366599 [GRCh38]
Chr19:10477275 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1155C>T (p.His385=) single nucleotide variant Immunodeficiency 35 [RCV002152380] Chr19:10364905 [GRCh38]
Chr19:10475581 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2379C>T (p.Thr793=) single nucleotide variant Immunodeficiency 35 [RCV002193715] Chr19:10357851 [GRCh38]
Chr19:10468527 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2617+18G>T single nucleotide variant Immunodeficiency 35 [RCV002133880] Chr19:10356550 [GRCh38]
Chr19:10467226 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1702C>T (p.Arg568Trp) single nucleotide variant Immunodeficiency 35 [RCV002080272] Chr19:10362149 [GRCh38]
Chr19:10472825 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1012-16C>T single nucleotide variant Immunodeficiency 35 [RCV002205628] Chr19:10365064 [GRCh38]
Chr19:10475740 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3096C>T (p.Asp1032=) single nucleotide variant Immunodeficiency 35 [RCV002215566]|TYK2-related condition [RCV003958599] Chr19:10353030 [GRCh38]
Chr19:10463706 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1210-16C>T single nucleotide variant Immunodeficiency 35 [RCV002131124] Chr19:10364787 [GRCh38]
Chr19:10475463 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.318-18del deletion Immunodeficiency 35 [RCV002096407] Chr19:10368220 [GRCh38]
Chr19:10478896 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.318-20T>A single nucleotide variant Immunodeficiency 35 [RCV002096408] Chr19:10368222 [GRCh38]
Chr19:10478898 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1902G>A (p.Gly634=) single nucleotide variant Immunodeficiency 35 [RCV002147112] Chr19:10361827 [GRCh38]
Chr19:10472503 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1670-4C>G single nucleotide variant Immunodeficiency 35 [RCV002130427] Chr19:10362185 [GRCh38]
Chr19:10472861 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.629+9G>A single nucleotide variant Immunodeficiency 35 [RCV002203142] Chr19:10366408 [GRCh38]
Chr19:10477084 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2657C>A (p.Ala886Glu) single nucleotide variant Immunodeficiency 35 [RCV002244127] Chr19:10354570 [GRCh38]
Chr19:10465246 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1095G>A (p.Pro365=) single nucleotide variant Immunodeficiency 35 [RCV002179534] Chr19:10364965 [GRCh38]
Chr19:10475641 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3222G>A (p.Lys1074=) single nucleotide variant Immunodeficiency 35 [RCV002102335] Chr19:10352530 [GRCh38]
Chr19:10463206 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1755C>T (p.Asp585=) single nucleotide variant Immunodeficiency 35 [RCV002137615] Chr19:10362096 [GRCh38]
Chr19:10472772 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1669+16dup duplication Immunodeficiency 35 [RCV002082554] Chr19:10362247..10362248 [GRCh38]
Chr19:10472923..10472924 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.318-17G>A single nucleotide variant Immunodeficiency 35 [RCV002183314] Chr19:10368219 [GRCh38]
Chr19:10478895 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.1506C>T (p.Leu502=) single nucleotide variant Immunodeficiency 35 [RCV002143534] Chr19:10362427 [GRCh38]
Chr19:10473103 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2466+9A>G single nucleotide variant Immunodeficiency 35 [RCV002164156] Chr19:10357755 [GRCh38]
Chr19:10468431 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2004G>A (p.Thr668=) single nucleotide variant Immunodeficiency 35 [RCV002164325]|TYK2-related condition [RCV003896021] Chr19:10361554 [GRCh38]
Chr19:10472230 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.466-18T>C single nucleotide variant Immunodeficiency 35 [RCV002179228] Chr19:10366598 [GRCh38]
Chr19:10477274 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2311+15G>A single nucleotide variant Immunodeficiency 35 [RCV002175871] Chr19:10357988 [GRCh38]
Chr19:10468664 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1080G>A (p.Lys360=) single nucleotide variant Immunodeficiency 35 [RCV002219088] Chr19:10364980 [GRCh38]
Chr19:10475656 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3201-10dup duplication Immunodeficiency 35 [RCV002098576] Chr19:10352560..10352561 [GRCh38]
Chr19:10463236..10463237 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.466-11C>T single nucleotide variant Immunodeficiency 35 [RCV002081998] Chr19:10366591 [GRCh38]
Chr19:10477267 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1773+19C>T single nucleotide variant Immunodeficiency 35 [RCV002138213] Chr19:10362059 [GRCh38]
Chr19:10472735 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1960-18C>T single nucleotide variant Immunodeficiency 35 [RCV002102608] Chr19:10361616 [GRCh38]
Chr19:10472292 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2295C>T (p.Gly765=) single nucleotide variant Immunodeficiency 35 [RCV002118902] Chr19:10358019 [GRCh38]
Chr19:10468695 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2618-14C>T single nucleotide variant Immunodeficiency 35 [RCV002220051] Chr19:10354623 [GRCh38]
Chr19:10465299 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1670-3dup duplication Immunodeficiency 35 [RCV002123494] Chr19:10362183..10362184 [GRCh38]
Chr19:10472859..10472860 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.2909-8C>T single nucleotide variant Immunodeficiency 35 [RCV002159717] Chr19:10353654 [GRCh38]
Chr19:10464330 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1023C>T (p.Gly341=) single nucleotide variant Immunodeficiency 35 [RCV002183696] Chr19:10365037 [GRCh38]
Chr19:10475713 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1485C>T (p.Asp495=) single nucleotide variant Immunodeficiency 35 [RCV002100522] Chr19:10362448 [GRCh38]
Chr19:10473124 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2430C>T (p.Asp810=) single nucleotide variant Immunodeficiency 35 [RCV002219176] Chr19:10357800 [GRCh38]
Chr19:10468476 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2844T>C (p.Ile948=) single nucleotide variant Immunodeficiency 35 [RCV002202583] Chr19:10354106 [GRCh38]
Chr19:10464782 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2908+11C>G single nucleotide variant Immunodeficiency 35 [RCV002182504] Chr19:10354031 [GRCh38]
Chr19:10464707 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1367+14G>A single nucleotide variant Immunodeficiency 35 [RCV003109660] Chr19:10364600 [GRCh38]
Chr19:10475276 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2569C>T (p.Pro857Ser) single nucleotide variant Immunodeficiency 35 [RCV003121255] Chr19:10356616 [GRCh38]
Chr19:10467292 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1468C>T (p.Arg490Cys) single nucleotide variant Inborn genetic diseases [RCV003252751] Chr19:10362557 [GRCh38]
Chr19:10473233 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.806G>T (p.Arg269Leu) single nucleotide variant not provided [RCV002272095] Chr19:10365722 [GRCh38]
Chr19:10476398 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1285G>A (p.Asp429Asn) single nucleotide variant not provided [RCV002263137] Chr19:10364696 [GRCh38]
Chr19:10475372 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1253C>A (p.Ser418Ter) single nucleotide variant Immunodeficiency 35 [RCV002280852] Chr19:10364728 [GRCh38]
Chr19:10475404 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.3041T>C (p.Leu1014Pro) single nucleotide variant Immunodeficiency 35 [RCV002280851] Chr19:10353085 [GRCh38]
Chr19:10463761 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.2395G>A (p.Gly799Arg) single nucleotide variant Immunodeficiency 35 [RCV002280853] Chr19:10357835 [GRCh38]
Chr19:10468511 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.2269C>G (p.Leu757Val) single nucleotide variant Immunodeficiency 35 [RCV002280850] Chr19:10358045 [GRCh38]
Chr19:10468721 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.659G>T (p.Arg220Leu) single nucleotide variant Inborn genetic diseases [RCV003300181] Chr19:10365869 [GRCh38]
Chr19:10476545 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1368-12A>C single nucleotide variant Immunodeficiency 35 [RCV002858625] Chr19:10362669 [GRCh38]
Chr19:10473345 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2077G>C (p.Gly693Arg) single nucleotide variant Immunodeficiency 35 [RCV002305093] Chr19:10359273 [GRCh38]
Chr19:10469949 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.740C>A (p.Pro247Gln) single nucleotide variant Immunodeficiency 35 [RCV002295267] Chr19:10365788 [GRCh38]
Chr19:10476464 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2979C>G (p.His993Gln) single nucleotide variant Immunodeficiency 35 [RCV002993603] Chr19:10353576 [GRCh38]
Chr19:10464252 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3543T>G (p.Pro1181=) single nucleotide variant Immunodeficiency 35 [RCV003074406] Chr19:10350855 [GRCh38]
Chr19:10461531 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1210-15G>A single nucleotide variant Immunodeficiency 35 [RCV002995479] Chr19:10364786 [GRCh38]
Chr19:10475462 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2383A>G (p.Met795Val) single nucleotide variant Immunodeficiency 35 [RCV002726872] Chr19:10357847 [GRCh38]
Chr19:10468523 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.753C>T (p.Ser251=) single nucleotide variant Immunodeficiency 35 [RCV002880233] Chr19:10365775 [GRCh38]
Chr19:10476451 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3027+12C>T single nucleotide variant Immunodeficiency 35 [RCV002616555] Chr19:10353516 [GRCh38]
Chr19:10464192 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.659G>A (p.Arg220His) single nucleotide variant Immunodeficiency 35 [RCV003073854] Chr19:10365869 [GRCh38]
Chr19:10476545 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.789C>A (p.Leu263=) single nucleotide variant Immunodeficiency 35 [RCV002771433] Chr19:10365739 [GRCh38]
Chr19:10476415 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.766A>G (p.Met256Val) single nucleotide variant Immunodeficiency 35 [RCV002795023] Chr19:10365762 [GRCh38]
Chr19:10476438 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.16T>G (p.Trp6Gly) single nucleotide variant Immunodeficiency 35 [RCV002756609]|Inborn genetic diseases [RCV003274026] Chr19:10378391 [GRCh38]
Chr19:10489067 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.553G>A (p.Gly185Ser) single nucleotide variant Immunodeficiency 35 [RCV002974997] Chr19:10366493 [GRCh38]
Chr19:10477169 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1415T>A (p.Leu472His) single nucleotide variant Immunodeficiency 35 [RCV003034496] Chr19:10362610 [GRCh38]
Chr19:10473286 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2821C>T (p.Arg941Cys) single nucleotide variant Immunodeficiency 35 [RCV002727173]|Inborn genetic diseases [RCV002727174] Chr19:10354129 [GRCh38]
Chr19:10464805 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1960-12C>A single nucleotide variant Immunodeficiency 35 [RCV002838357] Chr19:10361610 [GRCh38]
Chr19:10472286 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2044_2045delinsAT (p.Glu682Ile) indel Immunodeficiency 35 [RCV002816336] Chr19:10361513..10361514 [GRCh38]
Chr19:10472189..10472190 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.629+16G>A single nucleotide variant Immunodeficiency 35 [RCV002618689] Chr19:10366401 [GRCh38]
Chr19:10477077 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2311+1G>T single nucleotide variant Immunodeficiency 35 [RCV002974996] Chr19:10358002 [GRCh38]
Chr19:10468678 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_003331.5(TYK2):c.702T>G (p.Leu234=) single nucleotide variant Immunodeficiency 35 [RCV003078168] Chr19:10365826 [GRCh38]
Chr19:10476502 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1081G>T (p.Ala361Ser) single nucleotide variant Immunodeficiency 35 [RCV002913167] Chr19:10364979 [GRCh38]
Chr19:10475655 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1805A>G (p.Asn602Ser) single nucleotide variant Immunodeficiency 35 [RCV002623063] Chr19:10361924 [GRCh38]
Chr19:10472600 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1959+19G>T single nucleotide variant Immunodeficiency 35 [RCV002825295] Chr19:10361751 [GRCh38]
Chr19:10472427 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3406C>T (p.Arg1136Trp) single nucleotide variant Inborn genetic diseases [RCV002693369] Chr19:10351075 [GRCh38]
Chr19:10461751 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1787G>C (p.Gly596Ala) single nucleotide variant Immunodeficiency 35 [RCV002871359] Chr19:10361942 [GRCh38]
Chr19:10472618 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3013CAG[1] (p.Gln1006del) microsatellite Immunodeficiency 35 [RCV003078569] Chr19:10353537..10353539 [GRCh38]
Chr19:10464213..10464215 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.834C>T (p.Cys278=) single nucleotide variant Immunodeficiency 35 [RCV002619068] Chr19:10365694 [GRCh38]
Chr19:10476370 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.716G>A (p.Arg239His) single nucleotide variant Immunodeficiency 35 [RCV003079435] Chr19:10365812 [GRCh38]
Chr19:10476488 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3290A>G (p.His1097Arg) single nucleotide variant Immunodeficiency 35 [RCV002910184] Chr19:10352462 [GRCh38]
Chr19:10463138 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2177A>T (p.Glu726Val) single nucleotide variant Immunodeficiency 35 [RCV002846544] Chr19:10358137 [GRCh38]
Chr19:10468813 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2655G>A (p.Pro885=) single nucleotide variant Immunodeficiency 35 [RCV002569698]|TYK2-related condition [RCV003903714] Chr19:10354572 [GRCh38]
Chr19:10465248 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1960-11G>A single nucleotide variant Immunodeficiency 35 [RCV002637030] Chr19:10361609 [GRCh38]
Chr19:10472285 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1762G>A (p.Glu588Lys) single nucleotide variant Immunodeficiency 35 [RCV003079538] Chr19:10362089 [GRCh38]
Chr19:10472765 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1226C>T (p.Ser409Phe) single nucleotide variant Immunodeficiency 35 [RCV003100574] Chr19:10364755 [GRCh38]
Chr19:10475431 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2466+18T>C single nucleotide variant Immunodeficiency 35 [RCV002780776] Chr19:10357746 [GRCh38]
Chr19:10468422 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2016C>T (p.Phe672=) single nucleotide variant Immunodeficiency 35 [RCV002638034]|TYK2-related condition [RCV003963713] Chr19:10361542 [GRCh38]
Chr19:10472218 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.318-18C>T single nucleotide variant Immunodeficiency 35 [RCV002927027] Chr19:10368220 [GRCh38]
Chr19:10478896 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.465+10G>C single nucleotide variant Immunodeficiency 35 [RCV002780827] Chr19:10368045 [GRCh38]
Chr19:10478721 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2707C>G (p.Leu903Val) single nucleotide variant Immunodeficiency 35 [RCV003018711] Chr19:10354520 [GRCh38]
Chr19:10465196 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.653C>G (p.Ser218Cys) single nucleotide variant Immunodeficiency 35 [RCV003052873] Chr19:10365875 [GRCh38]
Chr19:10476551 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.844C>G (p.Leu282Val) single nucleotide variant Inborn genetic diseases [RCV002846039] Chr19:10365684 [GRCh38]
Chr19:10476360 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.741G>A (p.Pro247=) single nucleotide variant Immunodeficiency 35 [RCV003002053] Chr19:10365787 [GRCh38]
Chr19:10476463 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3227A>G (p.Tyr1076Cys) single nucleotide variant Immunodeficiency 35 [RCV002695694] Chr19:10352525 [GRCh38]
Chr19:10463201 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1767C>G (p.Ile589Met) single nucleotide variant Immunodeficiency 35 [RCV002979402] Chr19:10362084 [GRCh38]
Chr19:10472760 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.645C>T (p.Ile215=) single nucleotide variant Immunodeficiency 35 [RCV002705712] Chr19:10365883 [GRCh38]
Chr19:10476559 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2716-12G>A single nucleotide variant Immunodeficiency 35 [RCV002638173] Chr19:10354246 [GRCh38]
Chr19:10464922 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.194-19C>T single nucleotide variant Immunodeficiency 35 [RCV003079583] Chr19:10368437 [GRCh38]
Chr19:10479113 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1689C>A (p.Ile563=) single nucleotide variant Immunodeficiency 35 [RCV003081136] Chr19:10362162 [GRCh38]
Chr19:10472838 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2249G>C (p.Gly750Ala) single nucleotide variant Inborn genetic diseases [RCV002911155] Chr19:10358065 [GRCh38]
Chr19:10468741 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3389G>A (p.Arg1130Gln) single nucleotide variant Immunodeficiency 35 [RCV002571665] Chr19:10351092 [GRCh38]
Chr19:10461768 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3215G>T (p.Cys1072Phe) single nucleotide variant Immunodeficiency 35 [RCV002735796] Chr19:10352537 [GRCh38]
Chr19:10463213 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1210-20G>A single nucleotide variant Immunodeficiency 35 [RCV003018060] Chr19:10364791 [GRCh38]
Chr19:10475467 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.318G>A (p.Arg106=) single nucleotide variant Immunodeficiency 35 [RCV002690991] Chr19:10368202 [GRCh38]
Chr19:10478878 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.655T>C (p.Phe219Leu) single nucleotide variant Immunodeficiency 35 [RCV002638541] Chr19:10365873 [GRCh38]
Chr19:10476549 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2450G>A (p.Ser817Asn) single nucleotide variant Immunodeficiency 35 [RCV003038018] Chr19:10357780 [GRCh38]
Chr19:10468456 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2052C>T (p.Ile684=) single nucleotide variant Immunodeficiency 35 [RCV002949069] Chr19:10359298 [GRCh38]
Chr19:10469974 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1189C>T (p.Arg397Trp) single nucleotide variant Immunodeficiency 35 [RCV003079313] Chr19:10364871 [GRCh38]
Chr19:10475547 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1367+14G>C single nucleotide variant Immunodeficiency 35 [RCV002662554] Chr19:10364600 [GRCh38]
Chr19:10475276 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1476+16G>C single nucleotide variant Immunodeficiency 35 [RCV003035365] Chr19:10362533 [GRCh38]
Chr19:10473209 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.294C>T (p.Ser98=) single nucleotide variant Immunodeficiency 35 [RCV003026020] Chr19:10368318 [GRCh38]
Chr19:10478994 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.880C>T (p.Arg294Trp) single nucleotide variant Inborn genetic diseases [RCV003004656] Chr19:10365648 [GRCh38]
Chr19:10476324 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1148dup (p.Thr384fs) duplication Immunodeficiency 35 [RCV002852608] Chr19:10364911..10364912 [GRCh38]
Chr19:10475587..10475588 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.3507G>A (p.Leu1169=) single nucleotide variant Immunodeficiency 35 [RCV002626051] Chr19:10350891 [GRCh38]
Chr19:10461567 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.262A>G (p.Asn88Asp) single nucleotide variant Immunodeficiency 35 [RCV002643305] Chr19:10368350 [GRCh38]
Chr19:10479026 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3318G>T (p.Thr1106=) single nucleotide variant Immunodeficiency 35 [RCV003056662] Chr19:10352434 [GRCh38]
Chr19:10463110 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2564A>G (p.Gln855Arg) single nucleotide variant Inborn genetic diseases [RCV002891791] Chr19:10356621 [GRCh38]
Chr19:10467297 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2981G>A (p.Ser994Asn) single nucleotide variant Immunodeficiency 35 [RCV002914947] Chr19:10353574 [GRCh38]
Chr19:10464250 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1159G>C (p.Val387Leu) single nucleotide variant Immunodeficiency 35 [RCV003004956] Chr19:10364901 [GRCh38]
Chr19:10475577 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1707C>T (p.Ala569=) single nucleotide variant Immunodeficiency 35 [RCV003056316] Chr19:10362144 [GRCh38]
Chr19:10472820 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.318-10C>T single nucleotide variant Immunodeficiency 35 [RCV002928179] Chr19:10368212 [GRCh38]
Chr19:10478888 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3430-5T>C single nucleotide variant Immunodeficiency 35 [RCV002851824] Chr19:10350973 [GRCh38]
Chr19:10461649 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1011+17T>C single nucleotide variant Immunodeficiency 35 [RCV002595250] Chr19:10365500 [GRCh38]
Chr19:10476176 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1575C>T (p.Ser525=) single nucleotide variant Immunodeficiency 35 [RCV003083977] Chr19:10362358 [GRCh38]
Chr19:10473034 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.352C>T (p.Arg118Trp) single nucleotide variant Immunodeficiency 35 [RCV003004952]|TYK2-related condition [RCV003898685] Chr19:10368168 [GRCh38]
Chr19:10478844 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.756G>A (p.Gln252=) single nucleotide variant Immunodeficiency 35 [RCV003024271] Chr19:10365772 [GRCh38]
Chr19:10476448 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1562G>C (p.Arg521Pro) single nucleotide variant Immunodeficiency 35 [RCV002851672] Chr19:10362371 [GRCh38]
Chr19:10473047 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2843T>C (p.Ile948Thr) single nucleotide variant Immunodeficiency 35 [RCV002957644]|Inborn genetic diseases [RCV003274090] Chr19:10354107 [GRCh38]
Chr19:10464783 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2160C>T (p.Ser720=) single nucleotide variant Immunodeficiency 35 [RCV002574601] Chr19:10359190 [GRCh38]
Chr19:10469866 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2157C>T (p.Ala719=) single nucleotide variant Immunodeficiency 35 [RCV002624262] Chr19:10359193 [GRCh38]
Chr19:10469869 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.59A>C (p.Gln20Pro) single nucleotide variant Immunodeficiency 35 [RCV002573085] Chr19:10378348 [GRCh38]
Chr19:10489024 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.858C>T (p.Ala286=) single nucleotide variant Immunodeficiency 35 [RCV002626841] Chr19:10365670 [GRCh38]
Chr19:10476346 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.829G>T (p.Val277Leu) single nucleotide variant Immunodeficiency 35 [RCV002602767] Chr19:10365699 [GRCh38]
Chr19:10476375 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2618-10A>G single nucleotide variant Immunodeficiency 35 [RCV003029017] Chr19:10354619 [GRCh38]
Chr19:10465295 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1747C>T (p.Arg583Trp) single nucleotide variant Immunodeficiency 35 [RCV002581092] Chr19:10362104 [GRCh38]
Chr19:10472780 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3430-20G>C single nucleotide variant Immunodeficiency 35 [RCV002650897] Chr19:10350988 [GRCh38]
Chr19:10461664 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.36T>C (p.Ser12=) single nucleotide variant Immunodeficiency 35 [RCV003048522] Chr19:10378371 [GRCh38]
Chr19:10489047 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.897C>T (p.Ala299=) single nucleotide variant Immunodeficiency 35 [RCV002581738] Chr19:10365631 [GRCh38]
Chr19:10476307 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.629+8G>C single nucleotide variant Immunodeficiency 35 [RCV002857683] Chr19:10366409 [GRCh38]
Chr19:10477085 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.2047+11C>T single nucleotide variant Immunodeficiency 35 [RCV002577722] Chr19:10361500 [GRCh38]
Chr19:10472176 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2448G>C (p.Gln816His) single nucleotide variant Immunodeficiency 35 [RCV002628489] Chr19:10357782 [GRCh38]
Chr19:10468458 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2231G>A (p.Arg744Gln) single nucleotide variant Immunodeficiency 35 [RCV002672108] Chr19:10358083 [GRCh38]
Chr19:10468759 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3313C>G (p.Pro1105Ala) single nucleotide variant Immunodeficiency 35 [RCV002856467] Chr19:10352439 [GRCh38]
Chr19:10463115 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2664C>G (p.Asp888Glu) single nucleotide variant Immunodeficiency 35 [RCV002629242] Chr19:10354563 [GRCh38]
Chr19:10465239 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.12C>A (p.Arg4=) single nucleotide variant Immunodeficiency 35 [RCV002671920] Chr19:10378395 [GRCh38]
Chr19:10489071 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2970G>T (p.Leu990=) single nucleotide variant Immunodeficiency 35 [RCV002810209] Chr19:10353585 [GRCh38]
Chr19:10464261 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.65T>C (p.Met22Thr) single nucleotide variant Inborn genetic diseases [RCV002898464] Chr19:10378342 [GRCh38]
Chr19:10489018 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.253T>C (p.Leu85=) single nucleotide variant Immunodeficiency 35 [RCV002807033] Chr19:10368359 [GRCh38]
Chr19:10479035 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3486C>T (p.Phe1162=) single nucleotide variant Immunodeficiency 35 [RCV002651128] Chr19:10350912 [GRCh38]
Chr19:10461588 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2391G>A (p.Lys797=) single nucleotide variant Immunodeficiency 35 [RCV003030125] Chr19:10357839 [GRCh38]
Chr19:10468515 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.80G>T (p.Gly27Val) single nucleotide variant Immunodeficiency 35 [RCV003028344] Chr19:10378327 [GRCh38]
Chr19:10489003 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2300T>C (p.Leu767Pro) single nucleotide variant Immunodeficiency 35 [RCV003029222] Chr19:10358014 [GRCh38]
Chr19:10468690 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1960-12C>T single nucleotide variant Immunodeficiency 35 [RCV003060160] Chr19:10361610 [GRCh38]
Chr19:10472286 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.9G>A (p.Leu3=) single nucleotide variant Immunodeficiency 35 [RCV002675483] Chr19:10378398 [GRCh38]
Chr19:10489074 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.318-19_318-18delinsAA indel Immunodeficiency 35 [RCV003061526] Chr19:10368220..10368221 [GRCh38]
Chr19:10478896..10478897 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1571C>G (p.Pro524Arg) single nucleotide variant Immunodeficiency 35 [RCV003029755] Chr19:10362362 [GRCh38]
Chr19:10473038 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1749G>T (p.Arg583=) single nucleotide variant Immunodeficiency 35 [RCV002631930] Chr19:10362102 [GRCh38]
Chr19:10472778 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.522G>A (p.Glu174=) single nucleotide variant Immunodeficiency 35 [RCV003061010] Chr19:10366524 [GRCh38]
Chr19:10477200 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.762G>A (p.Met254Ile) single nucleotide variant Immunodeficiency 35 [RCV002671214] Chr19:10365766 [GRCh38]
Chr19:10476442 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1242G>T (p.Leu414=) single nucleotide variant Immunodeficiency 35 [RCV002811187] Chr19:10364739 [GRCh38]
Chr19:10475415 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2283C>T (p.Gly761=) single nucleotide variant Immunodeficiency 35 [RCV003086213] Chr19:10358031 [GRCh38]
Chr19:10468707 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_003331.5(TYK2):c.3384G>A (p.Leu1128=) single nucleotide variant Immunodeficiency 35 [RCV002577727] Chr19:10351097 [GRCh38]
Chr19:10461773 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1669+7T>G single nucleotide variant Immunodeficiency 35 [RCV002630675] Chr19:10362257 [GRCh38]
Chr19:10472933 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3539C>T (p.Ala1180Val) single nucleotide variant Immunodeficiency 35 [RCV002832842] Chr19:10350859 [GRCh38]
Chr19:10461535 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.276G>C (p.Glu92Asp) single nucleotide variant Immunodeficiency 35 [RCV002676449] Chr19:10368336 [GRCh38]
Chr19:10479012 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1045G>A (p.Ala349Thr) single nucleotide variant Immunodeficiency 35 [RCV003087426] Chr19:10365015 [GRCh38]
Chr19:10475691 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2748C>T (p.Tyr916=) single nucleotide variant Immunodeficiency 35 [RCV002646567] Chr19:10354202 [GRCh38]
Chr19:10464878 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.871T>C (p.Cys291Arg) single nucleotide variant Immunodeficiency 35 [RCV002650428] Chr19:10365657 [GRCh38]
Chr19:10476333 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1821C>T (p.Arg607=) single nucleotide variant Immunodeficiency 35 [RCV003029194] Chr19:10361908 [GRCh38]
Chr19:10472584 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2644C>G (p.Pro882Ala) single nucleotide variant Immunodeficiency 35 [RCV003045800] Chr19:10354583 [GRCh38]
Chr19:10465259 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1930C>T (p.Leu644=) single nucleotide variant Immunodeficiency 35 [RCV002898582] Chr19:10361799 [GRCh38]
Chr19:10472475 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2213G>A (p.Arg738Gln) single nucleotide variant Immunodeficiency 35 [RCV002581668] Chr19:10358101 [GRCh38]
Chr19:10468777 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3308G>C (p.Ser1103Thr) single nucleotide variant Immunodeficiency 35 [RCV003068839] Chr19:10352444 [GRCh38]
Chr19:10463120 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2909-18C>T single nucleotide variant Immunodeficiency 35 [RCV002814554] Chr19:10353664 [GRCh38]
Chr19:10464340 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1367+19dup duplication Immunodeficiency 35 [RCV003049668] Chr19:10364594..10364595 [GRCh38]
Chr19:10475270..10475271 [GRCh37]
Chr19:19p13.2		 benign
NM_003331.5(TYK2):c.2515C>G (p.Pro839Ala) single nucleotide variant Immunodeficiency 35 [RCV002654188] Chr19:10356670 [GRCh38]
Chr19:10467346 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1936C>T (p.Pro646Ser) single nucleotide variant Immunodeficiency 35 [RCV003051927] Chr19:10361793 [GRCh38]
Chr19:10472469 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1561C>G (p.Arg521Gly) single nucleotide variant Immunodeficiency 35 [RCV002721926] Chr19:10362372 [GRCh38]
Chr19:10473048 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.881G>A (p.Arg294Gln) single nucleotide variant Immunodeficiency 35 [RCV002582393] Chr19:10365647 [GRCh38]
Chr19:10476323 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1209+18G>A single nucleotide variant Immunodeficiency 35 [RCV003052291] Chr19:10364833 [GRCh38]
Chr19:10475509 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.991G>A (p.Glu331Lys) single nucleotide variant Inborn genetic diseases [RCV002722232] Chr19:10365537 [GRCh38]
Chr19:10476213 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1779C>G (p.Ser593=) single nucleotide variant Immunodeficiency 35 [RCV002942421] Chr19:10361950 [GRCh38]
Chr19:10472626 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1645C>T (p.Arg549Cys) single nucleotide variant Immunodeficiency 35 [RCV003071718] Chr19:10362288 [GRCh38]
Chr19:10472964 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2856C>T (p.Arg952=) single nucleotide variant Immunodeficiency 35 [RCV002657783] Chr19:10354094 [GRCh38]
Chr19:10464770 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2357G>A (p.Gly786Asp) single nucleotide variant Immunodeficiency 35 [RCV002607026] Chr19:10357873 [GRCh38]
Chr19:10468549 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1881C>T (p.Leu627=) single nucleotide variant Immunodeficiency 35 [RCV003051205] Chr19:10361848 [GRCh38]
Chr19:10472524 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2740T>C (p.Tyr914His) single nucleotide variant Immunodeficiency 35 [RCV002585278] Chr19:10354210 [GRCh38]
Chr19:10464886 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2657C>T (p.Ala886Val) single nucleotide variant Immunodeficiency 35 [RCV003069592] Chr19:10354570 [GRCh38]
Chr19:10465246 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2467-6C>T single nucleotide variant Immunodeficiency 35 [RCV002611495] Chr19:10356724 [GRCh38]
Chr19:10467400 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.750C>T (p.Leu250=) single nucleotide variant Immunodeficiency 35 [RCV002611585] Chr19:10365778 [GRCh38]
Chr19:10476454 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.843G>A (p.Arg281=) single nucleotide variant Immunodeficiency 35 [RCV002589638] Chr19:10365685 [GRCh38]
Chr19:10476361 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2716-17C>T single nucleotide variant Immunodeficiency 35 [RCV002676689] Chr19:10354251 [GRCh38]
Chr19:10464927 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.518A>G (p.Glu173Gly) single nucleotide variant Inborn genetic diseases [RCV003257512] Chr19:10366528 [GRCh38]
Chr19:10477204 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.653C>T (p.Ser218Phe) single nucleotide variant Inborn genetic diseases [RCV003257513] Chr19:10365875 [GRCh38]
Chr19:10476551 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2228C>T (p.Ala743Val) single nucleotide variant Immunodeficiency 35 [RCV003139202] Chr19:10358086 [GRCh38]
Chr19:10468762 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.789C>T (p.Leu263=) single nucleotide variant Immunodeficiency 35 [RCV003139203] Chr19:10365739 [GRCh38]
Chr19:10476415 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003331.5(TYK2):c.1840G>A (p.Gly614Arg) single nucleotide variant Inborn genetic diseases [RCV003215589] Chr19:10361889 [GRCh38]
Chr19:10472565 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3331C>T (p.Leu1111Phe) single nucleotide variant Immunodeficiency 35 [RCV003224754] Chr19:10351150 [GRCh38]
Chr19:10461826 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1745A>G (p.His582Arg) single nucleotide variant Inborn genetic diseases [RCV003188740] Chr19:10362106 [GRCh38]
Chr19:10472782 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1860G>C (p.Lys620Asn) single nucleotide variant Inborn genetic diseases [RCV003357703] Chr19:10361869 [GRCh38]
Chr19:10472545 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2203G>A (p.Val735Met) single nucleotide variant Inborn genetic diseases [RCV003378127] Chr19:10358111 [GRCh38]
Chr19:10468787 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.630-6C>T single nucleotide variant Immunodeficiency 35 [RCV003875116]|TYK2-related condition [RCV003921394] Chr19:10365904 [GRCh38]
Chr19:10476580 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.647C>T (p.Pro216Leu) single nucleotide variant Immunodeficiency 35 [RCV003874928] Chr19:10365881 [GRCh38]
Chr19:10476557 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.2(chr19:10477778-11154144)x3 copy number gain not provided [RCV003485192] Chr19:10477778..11154144 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.3004C>T (p.Leu1002Phe) single nucleotide variant TYK2-related condition [RCV003403104] Chr19:10353551 [GRCh38]
Chr19:10464227 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1248C>T (p.Phe416=) single nucleotide variant Immunodeficiency 35 [RCV003513875] Chr19:10364733 [GRCh38]
Chr19:10475409 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.273A>G (p.Leu91=) single nucleotide variant Immunodeficiency 35 [RCV003628215] Chr19:10368339 [GRCh38]
Chr19:10479015 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1392G>A (p.Leu464=) single nucleotide variant Immunodeficiency 35 [RCV003628385] Chr19:10362633 [GRCh38]
Chr19:10473309 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3558G>T (p.Val1186=) single nucleotide variant Immunodeficiency 35 [RCV003626961] Chr19:10350840 [GRCh38]
Chr19:10461516 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.424C>T (p.Gln142Ter) single nucleotide variant Immunodeficiency 35 [RCV003515874] Chr19:10368096 [GRCh38]
Chr19:10478772 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.193+13del deletion Immunodeficiency 35 [RCV003627065] Chr19:10378201 [GRCh38]
Chr19:10488877 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.194-18G>A single nucleotide variant Immunodeficiency 35 [RCV003514292] Chr19:10368436 [GRCh38]
Chr19:10479112 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.501G>A (p.Leu167=) single nucleotide variant Immunodeficiency 35 [RCV003516068] Chr19:10366545 [GRCh38]
Chr19:10477221 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.603C>T (p.Pro201=) single nucleotide variant Immunodeficiency 35 [RCV003627263] Chr19:10366443 [GRCh38]
Chr19:10477119 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2909-10_2909-9del microsatellite Immunodeficiency 35 [RCV003514834] Chr19:10353655..10353656 [GRCh38]
Chr19:10464331..10464332 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2715+9C>G single nucleotide variant Immunodeficiency 35 [RCV003627591] Chr19:10354503 [GRCh38]
Chr19:10465179 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1464C>G (p.Ala488=) single nucleotide variant Immunodeficiency 35 [RCV003627624] Chr19:10362561 [GRCh38]
Chr19:10473237 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3192C>T (p.Pro1064=) single nucleotide variant Immunodeficiency 35 [RCV003627704] Chr19:10352934 [GRCh38]
Chr19:10463610 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.510G>C (p.Leu170=) single nucleotide variant Immunodeficiency 35 [RCV003627728] Chr19:10366536 [GRCh38]
Chr19:10477212 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3318+5G>A single nucleotide variant Immunodeficiency 35 [RCV003627069] Chr19:10352429 [GRCh38]
Chr19:10463105 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2047+15C>T single nucleotide variant Immunodeficiency 35 [RCV003627858] Chr19:10361496 [GRCh38]
Chr19:10472172 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2343C>T (p.Pro781=) single nucleotide variant Immunodeficiency 35 [RCV003513931] Chr19:10357887 [GRCh38]
Chr19:10468563 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.693G>T (p.Arg231=) single nucleotide variant Immunodeficiency 35 [RCV003514726] Chr19:10365835 [GRCh38]
Chr19:10476511 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2957T>C (p.Leu986Pro) single nucleotide variant Immunodeficiency 35 [RCV003516060] Chr19:10353598 [GRCh38]
Chr19:10464274 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.600C>A (p.Ile200=) single nucleotide variant Immunodeficiency 35 [RCV003627169] Chr19:10366446 [GRCh38]
Chr19:10477122 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3028-20G>A single nucleotide variant Immunodeficiency 35 [RCV003514096] Chr19:10353118 [GRCh38]
Chr19:10463794 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1477-12A>G single nucleotide variant Immunodeficiency 35 [RCV003515414] Chr19:10362468 [GRCh38]
Chr19:10473144 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.579C>T (p.His193=) single nucleotide variant Immunodeficiency 35 [RCV003516434] Chr19:10366467 [GRCh38]
Chr19:10477143 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2920_2941del (p.Leu974fs) deletion Immunodeficiency 35 [RCV003515798] Chr19:10353614..10353635 [GRCh38]
Chr19:10464290..10464311 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.1191G>A (p.Arg397=) single nucleotide variant Immunodeficiency 35 [RCV003877145] Chr19:10364869 [GRCh38]
Chr19:10475545 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.463C>T (p.Gln155Ter) single nucleotide variant Immunodeficiency 35 [RCV003627438] Chr19:10368057 [GRCh38]
Chr19:10478733 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.2931C>T (p.Val977=) single nucleotide variant Immunodeficiency 35 [RCV003627446] Chr19:10353624 [GRCh38]
Chr19:10464300 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3075C>T (p.Ala1025=) single nucleotide variant Immunodeficiency 35 [RCV003627455] Chr19:10353051 [GRCh38]
Chr19:10463727 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.561C>T (p.Ala187=) single nucleotide variant Immunodeficiency 35 [RCV003827718] Chr19:10366485 [GRCh38]
Chr19:10477161 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1960-12dup duplication Immunodeficiency 35 [RCV003628301] Chr19:10361609..10361610 [GRCh38]
Chr19:10472285..10472286 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3429+7C>G single nucleotide variant Immunodeficiency 35 [RCV003515650] Chr19:10351045 [GRCh38]
Chr19:10461721 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1477-19C>G single nucleotide variant Immunodeficiency 35 [RCV003627592] Chr19:10362475 [GRCh38]
Chr19:10473151 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.519G>A (p.Glu173=) single nucleotide variant Immunodeficiency 35 [RCV003627709] Chr19:10366527 [GRCh38]
Chr19:10477203 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3563G>A (p.Ter1188=) single nucleotide variant Immunodeficiency 35 [RCV003627741] Chr19:10350835 [GRCh38]
Chr19:10461511 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2908+7G>A single nucleotide variant Immunodeficiency 35 [RCV003627442] Chr19:10354035 [GRCh38]
Chr19:10464711 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.422T>C (p.Met141Thr) single nucleotide variant Immunodeficiency 35 [RCV003628231] Chr19:10368098 [GRCh38]
Chr19:10478774 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1897C>T (p.Arg633Cys) single nucleotide variant Immunodeficiency 35 [RCV003627498] Chr19:10361832 [GRCh38]
Chr19:10472508 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.2133G>A (p.Lys711=) single nucleotide variant Immunodeficiency 35 [RCV003830525] Chr19:10359217 [GRCh38]
Chr19:10469893 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.918G>A (p.Glu306=) single nucleotide variant Immunodeficiency 35 [RCV003514896] Chr19:10365610 [GRCh38]
Chr19:10476286 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.629+2T>C single nucleotide variant Immunodeficiency 35 [RCV003515397] Chr19:10366415 [GRCh38]
Chr19:10477091 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_003331.5(TYK2):c.2028C>T (p.Val676=) single nucleotide variant Immunodeficiency 35 [RCV003830571] Chr19:10361530 [GRCh38]
Chr19:10472206 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1670-7C>T single nucleotide variant Immunodeficiency 35 [RCV003628453] Chr19:10362188 [GRCh38]
Chr19:10472864 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.78A>G (p.Gly26=) single nucleotide variant Immunodeficiency 35 [RCV003515908] Chr19:10378329 [GRCh38]
Chr19:10489005 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2008C>T (p.Leu670=) single nucleotide variant Immunodeficiency 35 [RCV003626108] Chr19:10361550 [GRCh38]
Chr19:10472226 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2488C>T (p.Gln830Ter) single nucleotide variant Immunodeficiency 35 [RCV003515486] Chr19:10356697 [GRCh38]
Chr19:10467373 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.1086C>T (p.Val362=) single nucleotide variant Immunodeficiency 35 [RCV003516378] Chr19:10364974 [GRCh38]
Chr19:10475650 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1904dup (p.Glu636fs) duplication Immunodeficiency 35 [RCV003516472] Chr19:10361824..10361825 [GRCh38]
Chr19:10472500..10472501 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.589C>G (p.Arg197Gly) single nucleotide variant Immunodeficiency 35 [RCV003627828] Chr19:10366457 [GRCh38]
Chr19:10477133 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_003331.5(TYK2):c.1815G>A (p.Glu605=) single nucleotide variant Immunodeficiency 35 [RCV003627860] Chr19:10361914 [GRCh38]
Chr19:10472590 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.627C>A (p.Thr209=) single nucleotide variant Immunodeficiency 35 [RCV003515555] Chr19:10366419 [GRCh38]
Chr19:10477095 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.194-20T>G single nucleotide variant Immunodeficiency 35 [RCV003516039] Chr19:10368438 [GRCh38]
Chr19:10479114 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2646G>A (p.Pro882=) single nucleotide variant Immunodeficiency 35 [RCV003516428] Chr19:10354581 [GRCh38]
Chr19:10465257 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2715+10G>C single nucleotide variant Immunodeficiency 35 [RCV003516519] Chr19:10354502 [GRCh38]
Chr19:10465178 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2517A>G (p.Pro839=) single nucleotide variant Immunodeficiency 35 [RCV003515658] Chr19:10356668 [GRCh38]
Chr19:10467344 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2176-7A>C single nucleotide variant Immunodeficiency 35 [RCV003516552] Chr19:10358145 [GRCh38]
Chr19:10468821 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2553T>C (p.Tyr851=) single nucleotide variant Immunodeficiency 35 [RCV003516606] Chr19:10356632 [GRCh38]
Chr19:10467308 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.630-11T>C single nucleotide variant Immunodeficiency 35 [RCV003626211] Chr19:10365909 [GRCh38]
Chr19:10476585 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1959+10C>T single nucleotide variant Immunodeficiency 35 [RCV003516229] Chr19:10361760 [GRCh38]
Chr19:10472436 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3201-11C>T single nucleotide variant Immunodeficiency 35 [RCV003628179] Chr19:10352562 [GRCh38]
Chr19:10463238 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2886C>T (p.Tyr962=) single nucleotide variant Immunodeficiency 35 [RCV003627437] Chr19:10354064 [GRCh38]
Chr19:10464740 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2166C>T (p.Leu722=) single nucleotide variant Immunodeficiency 35 [RCV003627456] Chr19:10359184 [GRCh38]
Chr19:10469860 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1818C>T (p.Gly606=) single nucleotide variant Immunodeficiency 35 [RCV003627059] Chr19:10361911 [GRCh38]
Chr19:10472587 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.630-9T>G single nucleotide variant Immunodeficiency 35 [RCV003627698] Chr19:10365907 [GRCh38]
Chr19:10476583 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.507G>A (p.Glu169=) single nucleotide variant Immunodeficiency 35 [RCV003627361] Chr19:10366539 [GRCh38]
Chr19:10477215 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2467-16G>T single nucleotide variant Immunodeficiency 35 [RCV003627400] Chr19:10356734 [GRCh38]
Chr19:10467410 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.654C>A (p.Ser218=) single nucleotide variant Immunodeficiency 35 [RCV003514167] Chr19:10365874 [GRCh38]
Chr19:10476550 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2991G>A (p.Leu997=) single nucleotide variant Immunodeficiency 35 [RCV003627833] Chr19:10353564 [GRCh38]
Chr19:10464240 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1825C>T (p.Arg609Ter) single nucleotide variant Immunodeficiency 35 [RCV003832980] Chr19:10361904 [GRCh38]
Chr19:10472580 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.1960-18C>A single nucleotide variant Immunodeficiency 35 [RCV003833204] Chr19:10361616 [GRCh38]
Chr19:10472292 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1011+2T>G single nucleotide variant Immunodeficiency 35 [RCV003838436] Chr19:10365515 [GRCh38]
Chr19:10476191 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_003331.5(TYK2):c.675G>A (p.Gln225=) single nucleotide variant Immunodeficiency 35 [RCV003814319] Chr19:10365853 [GRCh38]
Chr19:10476529 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2715+11G>C single nucleotide variant Immunodeficiency 35 [RCV003856280] Chr19:10354501 [GRCh38]
Chr19:10465177 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2048-10G>A single nucleotide variant Immunodeficiency 35 [RCV003855375] Chr19:10359312 [GRCh38]
Chr19:10469988 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3429+7C>T single nucleotide variant Immunodeficiency 35 [RCV003859820] Chr19:10351045 [GRCh38]
Chr19:10461721 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2868C>T (p.His956=) single nucleotide variant Immunodeficiency 35 [RCV003869310] Chr19:10354082 [GRCh38]
Chr19:10464758 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.193+13C>G single nucleotide variant Immunodeficiency 35 [RCV003872552] Chr19:10378201 [GRCh38]
Chr19:10488877 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2908+17G>A single nucleotide variant Immunodeficiency 35 [RCV003854019] Chr19:10354025 [GRCh38]
Chr19:10464701 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3201-6C>T single nucleotide variant Immunodeficiency 35 [RCV003865425] Chr19:10352557 [GRCh38]
Chr19:10463233 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.3237C>T (p.Tyr1079=) single nucleotide variant TYK2-related condition [RCV003896362] Chr19:10352515 [GRCh38]
Chr19:10463191 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.2466+1G>T single nucleotide variant Immunodeficiency 35 [RCV003988677] Chr19:10357763 [GRCh38]
Chr19:10468439 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_003331.5(TYK2):c.468C>T (p.Gly156=) single nucleotide variant TYK2-related condition [RCV003901678] Chr19:10366578 [GRCh38]
Chr19:10477254 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1 copy number loss not specified [RCV003986120] Chr19:10441330..13077352 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_003331.5(TYK2):c.3200+23G>C single nucleotide variant not provided [RCV001786607] Chr19:10352903 [GRCh38]
Chr19:10463579 [GRCh37]
Chr19:19p13.2		 likely benign
NM_003331.5(TYK2):c.1132T>C (p.Cys378Arg) single nucleotide variant Inborn genetic diseases [RCV003359737] Chr19:10364928 [GRCh38]
Chr19:10475604 [GRCh37]
Chr19:19p13.2		 uncertain significance
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.

Markers in Region
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


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_001406461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003331 (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
  XM_047439304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321924 (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
  CP068259 (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
  MN842724 (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
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,529 - 10,378,508 (-)Ensembl
RefSeq Acc Id: ENST00000524462   ⟹   ENSP00000433203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,533 - 10,380,565 (-)Ensembl
RefSeq Acc Id: ENST00000524470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,853 - 10,380,592 (-)Ensembl
RefSeq Acc Id: ENST00000525220   ⟹   ENSP00000434931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,362,580 - 10,365,863 (-)Ensembl
RefSeq Acc Id: ENST00000525621   ⟹   ENSP00000431885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,533 - 10,380,572 (-)Ensembl
RefSeq Acc Id: ENST00000525824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,368,122 - 10,368,741 (-)Ensembl
RefSeq Acc Id: ENST00000525976   ⟹   ENSP00000434831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,533 - 10,380,608 (-)Ensembl
RefSeq Acc Id: ENST00000527481   ⟹   ENSP00000466340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,947 - 10,380,608 (-)Ensembl
RefSeq Acc Id: ENST00000529317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,368,063 - 10,368,539 (-)Ensembl
RefSeq Acc Id: ENST00000529370   ⟹   ENSP00000432728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,535 - 10,380,525 (-)Ensembl
RefSeq Acc Id: ENST00000529412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,353,911 - 10,357,901 (-)Ensembl
RefSeq Acc Id: ENST00000529422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,788 - 10,353,137 (-)Ensembl
RefSeq Acc Id: ENST00000529739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,557 - 10,380,608 (-)Ensembl
RefSeq Acc Id: ENST00000530220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,533 - 10,353,256 (-)Ensembl
RefSeq Acc Id: ENST00000530560   ⟹   ENSP00000465291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,748 - 10,356,613 (-)Ensembl
RefSeq Acc Id: ENST00000530829   ⟹   ENSP00000436826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,535 - 10,380,510 (-)Ensembl
RefSeq Acc Id: ENST00000531620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,361,305 - 10,362,183 (-)Ensembl
RefSeq Acc Id: ENST00000531836   ⟹   ENSP00000436175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,535 - 10,380,572 (-)Ensembl
RefSeq Acc Id: ENST00000533334   ⟹   ENSP00000432320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,555 - 10,380,608 (-)Ensembl
RefSeq Acc Id: ENST00000534228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,551 - 10,380,608 (-)Ensembl
RefSeq Acc Id: ENST00000592137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,351,421 - 10,354,103 (-)Ensembl
RefSeq Acc Id: ENST00000699354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,535 - 10,358,610 (-)Ensembl
RefSeq Acc Id: ENST00000699355   ⟹   ENSP00000514328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,545 - 10,380,592 (-)Ensembl
RefSeq Acc Id: ENST00000699356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,545 - 10,380,608 (-)Ensembl
RefSeq Acc Id: ENST00000699357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,545 - 10,380,608 (-)Ensembl
RefSeq Acc Id: ENST00000699358   ⟹   ENSP00000514329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,549 - 10,380,608 (-)Ensembl
RefSeq Acc Id: ENST00000699359   ⟹   ENSP00000514330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,569 - 10,354,155 (-)Ensembl
RefSeq Acc Id: ENST00000699360   ⟹   ENSP00000514331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,569 - 10,380,608 (-)Ensembl
RefSeq Acc Id: ENST00000699361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,577 - 10,352,785 (-)Ensembl
RefSeq Acc Id: ENST00000699362   ⟹   ENSP00000514332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,577 - 10,353,623 (-)Ensembl
RefSeq Acc Id: ENST00000699363   ⟹   ENSP00000514333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,577 - 10,353,623 (-)Ensembl
RefSeq Acc Id: ENST00000699364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,577 - 10,353,840 (-)Ensembl
RefSeq Acc Id: ENST00000699365   ⟹   ENSP00000514334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,577 - 10,353,924 (-)Ensembl
RefSeq Acc Id: ENST00000699366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,577 - 10,353,924 (-)Ensembl
RefSeq Acc Id: ENST00000699367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,577 - 10,353,924 (-)Ensembl
RefSeq Acc Id: ENST00000699368   ⟹   ENSP00000514335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,350,577 - 10,354,153 (-)Ensembl
RefSeq Acc Id: ENST00000699369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,364,146 - 10,380,537 (-)Ensembl
RefSeq Acc Id: ENST00000699370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,364,518 - 10,380,559 (-)Ensembl
RefSeq Acc Id: ENST00000699371   ⟹   ENSP00000514336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,368,180 - 10,380,565 (-)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
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385198   ⟹   NP_001372127
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385199   ⟹   NP_001372128
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385200   ⟹   NP_001372129
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385201   ⟹   NP_001372130
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385202   ⟹   NP_001372131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385203   ⟹   NP_001372132
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385204   ⟹   NP_001372133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385205   ⟹   NP_001372134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385206   ⟹   NP_001372135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385207   ⟹   NP_001372136
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001406461   ⟹   NP_001393390
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,380,572 (-)NCBI
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)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
T2T-CHM13v2.01910,476,657 - 10,506,988 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528246   ⟹   XP_011526548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,378,296 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528247   ⟹   XP_011526549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,369,778 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528249   ⟹   XP_011526551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,350,533 - 10,364,288 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439304   ⟹   XP_047295260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,351,052 - 10,380,572 (-)NCBI
RefSeq Acc Id: XM_047439305   ⟹   XP_047295261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,351,056 - 10,380,572 (-)NCBI
RefSeq Acc Id: XM_047439306   ⟹   XP_047295262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,360,962 - 10,380,572 (-)NCBI
RefSeq Acc Id: XM_047439307   ⟹   XP_047295263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,361,511 - 10,380,572 (-)NCBI
RefSeq Acc Id: XM_054321918   ⟹   XP_054177893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01910,477,176 - 10,506,988 (-)NCBI
RefSeq Acc Id: XM_054321919   ⟹   XP_054177894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01910,476,657 - 10,504,722 (-)NCBI
RefSeq Acc Id: XM_054321920   ⟹   XP_054177895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01910,476,657 - 10,495,902 (-)NCBI
RefSeq Acc Id: XM_054321921   ⟹   XP_054177896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01910,477,180 - 10,506,988 (-)NCBI
RefSeq Acc Id: XM_054321922   ⟹   XP_054177897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01910,476,657 - 10,490,413 (-)NCBI
RefSeq Acc Id: XM_054321923   ⟹   XP_054177898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01910,487,087 - 10,506,988 (-)NCBI
RefSeq Acc Id: XM_054321924   ⟹   XP_054177899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01910,487,636 - 10,506,988 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001372126 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372127 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372128 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372129 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372130 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372131 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372132 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372133 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372134 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372135 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372136 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393390 (Get FASTA)   NCBI Sequence Viewer  
  NP_003322 (Get FASTA)   NCBI Sequence Viewer  
  XP_011526548 (Get FASTA)   NCBI Sequence Viewer  
  XP_011526549 (Get FASTA)   NCBI Sequence Viewer  
  XP_011526551 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295260 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295261 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295262 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295263 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177893 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177894 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177895 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177896 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177897 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177898 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177899 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH14243 (Get FASTA)   NCBI Sequence Viewer  
  AAS37680 (Get FASTA)   NCBI Sequence Viewer  
  BAD96392 (Get FASTA)   NCBI Sequence Viewer  
  BAG64635 (Get FASTA)   NCBI Sequence Viewer  
  CAA38449 (Get FASTA)   NCBI Sequence Viewer  
  EAW84099 (Get FASTA)   NCBI Sequence Viewer  
  EAW84100 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000431885
  ENSP00000431885.1
  ENSP00000432320
  ENSP00000432320.2
  ENSP00000433203
  ENSP00000433203.1
  ENSP00000434831
  ENSP00000434831.2
  ENSP00000434931.1
  ENSP00000436175
  ENSP00000436175.1
  ENSP00000436175.2
  ENSP00000436826.2
  ENSP00000465291.1
  ENSP00000466340.2
  ENSP00000514307.1
  ENSP00000514328
  ENSP00000514328.1
  ENSP00000514329
  ENSP00000514329.1
  ENSP00000514330.1
  ENSP00000514331.1
  ENSP00000514332.1
  ENSP00000514333.1
  ENSP00000514334.1
  ENSP00000514335.1
  ENSP00000514336.1
GenBank Protein P29597 (Get FASTA)   NCBI Sequence Viewer  
  QVU18567 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_003322   ⟸   NM_003331
- Peptide Label: isoform 2
- UniProtKB: Q6QB10 (UniProtKB/Swiss-Prot),   Q96CH0 (UniProtKB/Swiss-Prot),   P29597 (UniProtKB/Swiss-Prot),   A0A8E7DA23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011526548   ⟸   XM_011528246
- Peptide Label: isoform X2
- UniProtKB: E9PM19 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011526549   ⟸   XM_011528247
- Peptide Label: isoform X2
- UniProtKB: E9PM19 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011526551   ⟸   XM_011528249
- Peptide Label: isoform X4
- 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
- UniProtKB: A0A8E7DA23 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372134   ⟸   NM_001385205
- Peptide Label: isoform 10
- UniProtKB: A0A8E7DA23 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372130   ⟸   NM_001385201
- Peptide Label: isoform 7
- UniProtKB: A0A8E7DA23 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372135   ⟸   NM_001385206
- Peptide Label: isoform 11
- UniProtKB: A0A8E7DA23 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372136   ⟸   NM_001385207
- Peptide Label: isoform 12
- UniProtKB: A0A8E7DA23 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372131   ⟸   NM_001385202
- Peptide Label: isoform 8
- UniProtKB: A0A8E7DA23 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372129   ⟸   NM_001385200
- Peptide Label: isoform 6
- UniProtKB: A0A8E7DA23 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372127   ⟸   NM_001385198
- Peptide Label: isoform 4
- UniProtKB: A0A8V8TPJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372126   ⟸   NM_001385197
- Peptide Label: isoform 3
- UniProtKB: H0YE24 (UniProtKB/TrEMBL),   A0A8E7DA23 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372132   ⟸   NM_001385203
- Peptide Label: isoform 9
- UniProtKB: A0A8E7DA23 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372133   ⟸   NM_001385204
- Peptide Label: isoform 1
- UniProtKB: A0A8E7DA23 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047295260   ⟸   XM_047439304
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047295261   ⟸   XM_047439305
- Peptide Label: isoform X3
- UniProtKB: A0A8V8TN50 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047295262   ⟸   XM_047439306
- Peptide Label: isoform X5
- UniProtKB: H0YCT7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047295263   ⟸   XM_047439307
- Peptide Label: isoform X6
- UniProtKB: A0A8V8TPX5 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000514329   ⟸   ENST00000699358
RefSeq Acc Id: ENSP00000514331   ⟸   ENST00000699360
RefSeq Acc Id: ENSP00000514336   ⟸   ENST00000699371
RefSeq Acc Id: ENSP00000514335   ⟸   ENST00000699368
RefSeq Acc Id: ENSP00000514332   ⟸   ENST00000699362
RefSeq Acc Id: ENSP00000514333   ⟸   ENST00000699363
RefSeq Acc Id: ENSP00000514328   ⟸   ENST00000699355
RefSeq Acc Id: ENSP00000514334   ⟸   ENST00000699365
RefSeq Acc Id: ENSP00000514330   ⟸   ENST00000699359
RefSeq Acc Id: NP_001393390   ⟸   NM_001406461
- Peptide Label: isoform 2
- UniProtKB: Q6QB10 (UniProtKB/Swiss-Prot),   P29597 (UniProtKB/Swiss-Prot),   Q96CH0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054177894   ⟸   XM_054321919
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054177895   ⟸   XM_054321920
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054177897   ⟸   XM_054321922
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054177893   ⟸   XM_054321918
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177896   ⟸   XM_054321921
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054177898   ⟸   XM_054321923
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054177899   ⟸   XM_054321924
- Peptide Label: isoform X6
Protein Domains
FERM   JAK FERM F2 lobe   JAK1-3/TYK2 pleckstrin homology-like   Protein kinase   SH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P29597-F1-model_v2 AlphaFold P29597 1-1187 view protein structure

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

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 Transcript ENST00000524462 ENTREZGENE
  ENST00000524462.5 UniProtKB/TrEMBL
  ENST00000524470.2 UniProtKB/TrEMBL
  ENST00000525220.1 UniProtKB/TrEMBL
  ENST00000525621 ENTREZGENE
  ENST00000525621.6 UniProtKB/Swiss-Prot
  ENST00000525976 ENTREZGENE
  ENST00000525976.6 UniProtKB/TrEMBL
  ENST00000527481.3 UniProtKB/TrEMBL
  ENST00000529370 ENTREZGENE
  ENST00000530560.5 UniProtKB/TrEMBL
  ENST00000530829.2 UniProtKB/TrEMBL
  ENST00000531836 ENTREZGENE
  ENST00000531836.5 UniProtKB/TrEMBL
  ENST00000531836.6 UniProtKB/Swiss-Prot
  ENST00000533334 ENTREZGENE
  ENST00000533334.2 UniProtKB/TrEMBL
  ENST00000699355 ENTREZGENE
  ENST00000699355.1 UniProtKB/TrEMBL
  ENST00000699358 ENTREZGENE
  ENST00000699358.1 UniProtKB/TrEMBL
  ENST00000699359.1 UniProtKB/TrEMBL
  ENST00000699360.1 UniProtKB/TrEMBL
  ENST00000699362.1 UniProtKB/TrEMBL
  ENST00000699363.1 UniProtKB/TrEMBL
  ENST00000699365.1 UniProtKB/TrEMBL
  ENST00000699368.1 UniProtKB/TrEMBL
  ENST00000699371.1 UniProtKB/TrEMBL
Gene3D-CATH Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, 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_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
NCBI Gene 7297 ENTREZGENE
OMIM 176941 OMIM
PANTHER NON-RECEPTOR TYROSINE-PROTEIN KINASE TYK2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYROSINE-PROTEIN KINASE HOPSCOTCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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 PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8E7DA23 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TN50 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TN55_HUMAN UniProtKB/TrEMBL
  A0A8V8TN89_HUMAN UniProtKB/TrEMBL
  A0A8V8TN95_HUMAN UniProtKB/TrEMBL
  A0A8V8TNM9_HUMAN UniProtKB/TrEMBL
  A0A8V8TPH2_HUMAN UniProtKB/TrEMBL
  A0A8V8TPJ0 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TPJ3_HUMAN UniProtKB/TrEMBL
  A0A8V8TPX5 ENTREZGENE, UniProtKB/TrEMBL
  E9PM19 ENTREZGENE, UniProtKB/TrEMBL
  E9PQE9_HUMAN UniProtKB/TrEMBL
  E9PQL2_HUMAN UniProtKB/TrEMBL
  H0YCT7 ENTREZGENE, UniProtKB/TrEMBL
  H0YE24 ENTREZGENE, UniProtKB/TrEMBL
  H0YE41_HUMAN UniProtKB/TrEMBL
  K7EJR6_HUMAN UniProtKB/TrEMBL
  K7EM33_HUMAN UniProtKB/TrEMBL
  P29597 ENTREZGENE
  Q6QB10 ENTREZGENE
  Q96CH0 ENTREZGENE
  TYK2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q6QB10 UniProtKB/Swiss-Prot
  Q96CH0 UniProtKB/Swiss-Prot