TYK2 (tyrosine kinase 2) - Rat Genome Database

Name: TYK2
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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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 ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Tyk2 (tyrosine kinase 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Tyk2 (tyrosine kinase 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Tyk2 (tyrosine kinase 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TYK2 (tyrosine kinase 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	TYK2 (tyrosine kinase 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tyk2 (tyrosine kinase 2)	NCBI	Ortholog
Sus scrofa (pig):	TYK2 (tyrosine kinase 2)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TYK2 (tyrosine kinase 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tyk2 (tyrosine kinase 2)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Jak2 (Janus kinase 2)	HGNC	OrthoMCL
Mus musculus (house mouse):	Jak3 (Janus kinase 3)	HGNC	OrthoMCL
Mus musculus (house mouse):	Jak1 (Janus kinase 1)	HGNC	OrthoMCL
Alliance orthologs ³
Mus musculus (house mouse):	Tyk2 (tyrosine kinase 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Tyk2 (tyrosine kinase 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tyk2 (tyrosine kinase 2)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	hop	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	10,350,533 - 10,380,572 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	19	10,350,533 - 10,380,608 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	10,461,209 - 10,491,248 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	10,322,209 - 10,352,211 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	10,322,208 - 10,352,211	NCBI
Celera	19	10,356,496 - 10,385,954 (-)	NCBI		Celera
Cytogenetic Map	19	p13.2	NCBI
HuRef	19	10,041,213 - 10,071,290 (-)	NCBI		HuRef
CHM1_1	19	10,461,760 - 10,491,969 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	10,476,657 - 10,506,988 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (EXP)

Cocaine-Related Disorders (EXP)

COVID-19 (EXP)

Crohn's disease (EXP)

genetic disease (IAGP)

immunodeficiency 35 (IAGP)

multiple sclerosis (EXP)

obesity (ISS)

Paranoid Disorders (EXP)

primary biliary cholangitis (EXP)

psoriasis (EXP)

rheumatoid arthritis (EXP)

T-cell acute lymphoblastic leukemia (EXP)

type 1 diabetes mellitus (EXP,IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

4,4'-sulfonyldiphenol (ISO)

5-aza-2'-deoxycytidine (EXP)

acetylsalicylic acid (EXP)

all-trans-retinoic acid (EXP)

aristolochic acid A (EXP)

arsenous acid (EXP)

bisphenol A (EXP,ISO)

cannabidiol (EXP)

carbon nanotube (EXP)

clofibrate (ISO)

cobalt dichloride (EXP)

cocaine (EXP)

diarsenic trioxide (EXP)

epoxiconazole (ISO)

fulvestrant (EXP)

gentamycin (ISO)

L-ascorbic acid (EXP)

menadione (EXP)

methotrexate (EXP)

methyl methanesulfonate (EXP)

obeticholic acid (EXP)

paracetamol (EXP)

pentachlorophenol (ISO)

perfluorohexanesulfonic acid (EXP)

perfluorononanoic acid (EXP)

perfluorooctane-1-sulfonic acid (EXP)

perfluorooctanoic acid (EXP)

ponatinib (EXP)

quercetin (ISO)

quercetin 3-O-beta-D-glucofuranoside (EXP)

quercetin 3-O-beta-D-glucopyranoside (EXP)

sodium arsenite (EXP)

taurine (EXP)

temozolomide (EXP)

testosterone enanthate (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

Triptolide (ISO)

triptonide (ISO)

tungsten (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell differentiation (IBA)

cell population proliferation (ISO)

cellular response to virus (NAS)

cytokine-mediated signaling pathway (IBA,IEA,TAS)

immune response (NAS)

interleukin-12-mediated signaling pathway (IDA)

intracellular signal transduction (IBA,IEA)

peptidyl-tyrosine phosphorylation (IEA)

phosphorylation (IEA)

positive regulation of interleukin-17 production (NAS)

positive regulation of natural killer cell proliferation (IDA)

positive regulation of NK T cell proliferation (IDA,NAS)

positive regulation of protein localization to nucleus (IDA)

positive regulation of receptor signaling pathway via JAK-STAT (IDA)

positive regulation of T cell proliferation (IDA)

positive regulation of T-helper 17 type immune response (NAS)

positive regulation of type II interferon production (IDA)

protein phosphorylation (IEA,TAS)

receptor signaling pathway via JAK-STAT (IDA,IEA,TAS)

regulation of cell adhesion (IEA)

regulation of multicellular organismal process (IEA)

response to organic substance (IEA)

type I interferon-mediated signaling pathway (IDA,NAS,TAS)

type II interferon-mediated signaling pathway (IDA)

type III interferon-mediated signaling pathway (NAS)

Cellular Component

cytoplasm (IDA)

cytoplasm (IDA,IEA)

cytoplasmic side of plasma membrane (IC)

cytoskeleton (IEA)

cytosol (IBA,TAS)

cytosol (TAS)

extracellular exosome (HDA)

extrinsic component of plasma membrane (TAS)

interleukin-12 receptor complex (NAS)

interleukin-23 receptor complex (NAS)

membrane (IEA)

nucleus (IDA)

Molecular Function

ATP binding (IEA)

cytokine receptor binding (IBA)

growth hormone receptor binding (IPI)

kinase activity (IEA)

non-membrane spanning protein tyrosine kinase activity (IBA,IDA,IEA,TAS)

nucleotide binding (IEA)

protein binding (IPI)

protein kinase activity (IEA)

protein serine/threonine/tyrosine kinase activity (IEA)

protein tyrosine kinase activity (EXP,IDA,IEA,TAS)

transferase activity (IEA)

type 1 angiotensin receptor binding (IEA,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

angiotensin II signaling pathway via AT1 receptor (ISO)

hepatitis C pathway (IEA)

Interleukin-10 signaling pathway (TAS)

interleukin-12 signaling pathway (EXP)

interleukin-23 signaling pathway (EXP)

interleukin-27 signaling pathway (EXP)

interleukin-6 signaling pathway (EXP,TAS)

Jak-Stat signaling pathway (IEA,TAS)

measles pathway (IEA)

Non-Stat, Jak dependent pathway (TAS)

toxoplasmosis pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autosomal recessive inheritance (IAGP)

Hepatic necrosis (IAGP)

Immunodeficiency (IAGP)

Increased circulating IgE level (IAGP)

Recurrent fungal infections (IAGP)

Recurrent mycobacterial infections (IAGP)

Recurrent respiratory infections (IAGP)

Recurrent skin infections (IAGP)

Recurrent viral infections (IAGP)

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.

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:35711568	PMID:35747941	PMID:35821088	PMID:36094518	PMID:36289205	PMID:36519621	PMID:36672770	PMID:36834806

Genomics

Comparative Map Data

TYK2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	10,350,533 - 10,380,572 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	19	10,350,533 - 10,380,608 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	10,461,209 - 10,491,248 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	10,322,209 - 10,352,211 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	10,322,208 - 10,352,211	NCBI
Celera	19	10,356,496 - 10,385,954 (-)	NCBI		Celera
Cytogenetic Map	19	p13.2	NCBI
HuRef	19	10,041,213 - 10,071,290 (-)	NCBI		HuRef
CHM1_1	19	10,461,760 - 10,491,969 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	10,476,657 - 10,506,988 (-)	NCBI		T2T-CHM13v2.0

Tyk2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	21,015,364 - 21,042,689 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	21,015,364 - 21,042,539 (-)	Ensembl		GRCm39 Ensembl
GRCm38	9	21,104,068 - 21,131,393 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	21,104,068 - 21,131,243 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	20,908,512 - 20,935,719 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	20,854,476 - 20,881,612 (-)	NCBI		MGSCv36	mm8
Celera	9	18,372,782 - 18,399,989 (-)	NCBI		Celera
Cytogenetic Map	9	A3	NCBI

Tyk2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	8	19,641,881 - 19,667,157 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	19,641,884 - 19,667,044 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	23,661,293 - 23,682,384 (-)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	8	21,959,148 - 21,980,237 (-)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	8	19,871,547 - 19,892,652 (-)	NCBI	Rnor_WKY
Rnor_6.0	8	22,118,224 - 22,149,807 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	22,124,560 - 22,150,005 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	22,180,760 - 22,205,979 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	20,096,969 - 20,149,004 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	20,128,873 - 20,148,992 (-)	NCBI
Celera	8	21,036,299 - 21,057,402 (-)	NCBI		Celera
Cytogenetic Map	8	q13	NCBI

Tyk2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955495	1,617,999 - 1,636,068 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955495	1,618,099 - 1,637,996 (-)	NCBI	ChiLan1.0	ChiLan1.0

TYK2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	19	10,565,490 - 10,596,647 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	10,565,490 - 10,594,541 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	19	9,901,612 - 9,932,623 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

TYK2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	50,747,145 - 50,770,008 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	50,748,329 - 50,769,216 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	50,617,718 - 50,639,776 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	51,269,592 - 51,291,659 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	51,269,646 - 51,291,659 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	50,475,504 - 50,497,770 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	50,904,500 - 50,926,568 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	51,145,386 - 51,167,670 (+)	NCBI		UU_Cfam_GSD_1.0

Tyk2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	209,650,169 - 209,673,217 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936659	681,310 - 702,962 (-)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936659	681,463 - 704,484 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TYK2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	69,157,811 - 69,183,456 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	69,157,774 - 69,183,555 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	69,492,135 - 69,517,888 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TYK2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	6	9,399,945 - 9,420,054 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	9,399,775 - 9,417,630 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666074	10,583,417 - 10,634,844 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tyk2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624828	2,500,339 - 2,517,694 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624828	2,499,811 - 2,518,817 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TYK2
631 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]\|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]\|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]	Chr19:10354503 [GRCh38] Chr19:10465179 [GRCh37] Chr19:19p13.2	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 provided [RCV000931503]\|not specified [RCV000605615]	Chr19:10362254 [GRCh38] Chr19:10472930 [GRCh37] Chr19:19p13.2	likely benign
NM_003331.5(TYK2):c.2994C>A (p.Ala998=)	single nucleotide variant	not provided [RCV000585021]	Chr19:10353561 [GRCh38] Chr19:10464237 [GRCh37] Chr19:19p13.2	uncertain significance
NM_003331.5(TYK2):c.2463C>T (p.Ser821=)	single nucleotide variant	Immunodeficiency 35 [RCV000768360]	Chr19:10357767 [GRCh38] Chr19:10468443 [GRCh37] Chr19:19p13.2	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 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]\|not provided [RCV000645243]	Chr19:10366560 [GRCh38] Chr19:10477236 [GRCh37] Chr19:19p13.2	likely benign
NM_003331.5(TYK2):c.3156C>T (p.His1052=)	single nucleotide variant	Immunodeficiency 35 [RCV001434961]\|not provided [RCV000645246]	Chr19:10352970 [GRCh38] Chr19:10463646 [GRCh37] Chr19:19p13.2	likely benign
NM_003331.5(TYK2):c.777_778delinsTT (p.Tyr259_Leu260=)	indel	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.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 provided [RCV000933026]\|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]\|not provided [RCV000645240]	Chr19:10365718 [GRCh38] Chr19:10476394 [GRCh37] Chr19:19p13.2	likely benign
NM_003331.5(TYK2):c.2812C>G (p.Pro938Ala)	single nucleotide variant	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]	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]	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]\|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]\|not provided [RCV000884943]	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]\|not provided [RCV000920227]	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]	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]\|not provided [RCV000981696]	Chr19:10358032 [GRCh38] Chr19:10468708 [GRCh37] Chr19:19p13.2	likely benign
NM_003331.5(TYK2):c.409_417dup (p.Thr137_Gln139dup)	duplication	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]\|not provided [RCV000918145]	Chr19:10362624 [GRCh38] Chr19:10473300 [GRCh37] Chr19:19p13.2	likely benign
NM_003331.5(TYK2):c.2499G>A (p.Leu833=)	single nucleotide variant	Immunodeficiency 35 [RCV001416235]\|not provided [RCV000942003]	Chr19:10356686 [GRCh38] Chr19:10467362 [GRCh37] Chr19:19p13.2	likely benign
NM_003331.5(TYK2):c.1669+5G>A	single nucleotide variant	Immunodeficiency 35 [RCV001474191]\|not provided [RCV000920082]	Chr19:10362259 [GRCh38] Chr19:10472935 [GRCh37] Chr19:19p13.2	likely benign
NM_003331.5(TYK2):c.3123C>T (p.Asp1041=)	single nucleotide variant	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]	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]	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]	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]	Chr19:10365866 [GRCh38] Chr19:10476542 [GRCh37] Chr19:19p13.2	uncertain significance
NM_003331.5(TYK2):c.1367+185C>T	single nucleotide variant	not provided [RCV000837293]	Chr19:10364429 [GRCh38] Chr19:10475105 [GRCh37] Chr19:19p13.2	benign
NM_003331.5(TYK2):c.2908+156C>A	single nucleotide variant	not provided [RCV000837319]	Chr19:10353886 [GRCh38] Chr19:10464562 [GRCh37] Chr19:19p13.2	likely benign
NM_003331.5(TYK2):c.2909-152T>C	single nucleotide variant	not provided [RCV000837320]	Chr19:10353798 [GRCh38] Chr19:10464474 [GRCh37] Chr19:19p13.2	likely benign
NM_003331.5(TYK2):c.437C>T (p.Pro146Leu)	single nucleotide variant	Immunodeficiency 35 [RCV000802854]	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]	Chr19:10364745 [GRCh38] Chr19:10475421 [GRCh37] Chr19:19p13.2	likely benign
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_Gln816=)	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]	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]\|not provided [RCV000902918]	Chr19:10368351 [GRCh38] Chr19:10479027 [GRCh37] Chr19:19p13.2	likely benign
NM_003331.5(TYK2):c.194-8T>C	single nucleotide variant	Immunodeficiency 35 [RCV001442705]\|not provided [RCV000930376]	Chr19:10368426 [GRCh38] Chr19:10479102 [GRCh37] Chr19:19p13.2	likely benign
NM_003331.5(TYK2):c.3489G>A (p.Glu1163=)	single nucleotide variant	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]\|not provided [RCV000886241]	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 [RCV000917435]	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	not provided [RCV000904449]	Chr19:10352979 [GRCh38] Chr19:10463655 [GRCh37] Chr19:19p13.2	likely benign
NM_003331.5(TYK2):c.149C>T (p.Ser50Leu)	single nucleotide variant	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]	Chr19:10364978 [GRCh38] Chr19:10475654 [GRCh37] Chr19:19p13.2	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]\|not provided [RCV000911165]	Chr19:10378292 [GRCh38] Chr19:10488968 [GRCh37] Chr19:19p13.2	likely benign
NM_003331.5(TYK2):c.2716-4C>G	single nucleotide variant	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.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]	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]	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]	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]	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]	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]	Chr19:10368148 [GRCh38] Chr19:10478824 [GRCh37] Chr19:19p13.2	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]	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]	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]	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]	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]	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.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.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]	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]	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	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]	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]	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]	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]	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 [GRCh3

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