DOCK8 (dedicator of cytokinesis 8) - Rat Genome Database

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Gene: DOCK8 (dedicator of cytokinesis 8) Homo sapiens
Analyze
Symbol: DOCK8
Name: dedicator of cytokinesis 8
RGD ID: 1603953
HGNC Page HGNC:19191
Description: Enables guanyl-nucleotide exchange factor activity. Involved in several processes, including positive regulation of GTPase activity; positive regulation of T cell migration; and positive regulation of establishment of T cell polarity. Acts upstream of or within memory T cell proliferation. Located in cytosol and leading edge membrane. Implicated in atopic dermatitis; bacterial infectious disease; hyper IgE recurrent infection syndrome 2; immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; and viral infectious disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 1200017A24Rik; dedicator of cytokinesis protein 8; epididymis luminal protein 205; FLJ00026; FLJ00152; FLJ00346; HEL-205; HIES2; MRD2; ZIR8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389211,257 - 465,255 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9214,854 - 465,259 (+)EnsemblGRCh38hg38GRCh38
GRCh379214,865 - 465,255 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369263,048 - 455,255 (+)NCBINCBI36Build 36hg18NCBI36
Celera9129,697 - 382,253 (+)NCBICelera
Cytogenetic Map9p24.3NCBI
HuRef9168,609 - 417,080 (+)NCBIHuRef
CHM1_19215,319 - 464,907 (+)NCBICHM1_1
T2T-CHM13v2.09208,892 - 464,924 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetic acid [2-[[(5-nitro-2-thiazolyl)amino]-oxomethyl]phenyl] ester  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
antirheumatic drug  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
calcitriol  (EXP)
camptothecin  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
corosolic acid  (ISO)
coumestrol  (EXP)
Cuprizon  (ISO)
decabromodiphenyl ether  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
fenfluramine  (EXP)
flutamide  (ISO)
folic acid  (ISO)
inulin  (ISO)
L-methionine  (ISO)
levonorgestrel  (EXP)
lidocaine  (ISO)
mercury dibromide  (EXP)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
Nutlin-3  (EXP)
O-methyleugenol  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
sulforaphane  (EXP)
testosterone  (EXP)
testosterone undecanoate  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
tungsten  (ISO)
valproic acid  (EXP)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Allergic rhinitis  (IAGP)
Anal canal squamous carcinoma  (IAGP)
Anaphylactic shock  (IAGP)
Asthma  (IAGP)
Atopic dermatitis  (IAGP)
Autoimmune antibody positivity  (IAGP)
Autoimmunity  (IAGP)
Autosomal recessive inheritance  (IAGP)
B lymphocytopenia  (IAGP)
Bronchiectasis  (IAGP)
Cerebral vasculitis  (IAGP)
Chronic otitis media  (IAGP)
Cutaneous abscess  (IAGP)
Decreased circulating total IgM  (IAGP)
Decreased proportion of CD4+CD25+ regulatory T cells  (IAGP)
Decreased proportion of CD4-positive helper T cells  (IAGP)
Decreased proportion of CD4-positive T cells  (IAGP)
Decreased proportion of memory T cells  (IAGP)
Decreased proportion of naive CD8 T cells  (IAGP)
Disseminated molluscum contagiosum  (IAGP)
Drug allergy  (IAGP)
Eczematoid dermatitis  (IAGP)
Eosinophilia  (IAGP)
Eosinophilic infiltration of the esophagus  (IAGP)
Failure to thrive  (IAGP)
Food allergy  (IAGP)
Growth delay  (IAGP)
Hemiplegia  (IAGP)
Hepatoblastoma  (IAGP)
Hypereosinophilia  (IAGP)
Increased circulating IgE concentration  (IAGP)
Increased circulating IgG concentration  (IAGP)
Increased proportion of exhausted T cells  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Molluscum contagiosum  (IAGP)
Onychomycosis  (IAGP)
Osteomyelitis  (IAGP)
Pneumonia  (IAGP)
Pulmonary pneumatocele  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent bacterial skin infections  (IAGP)
Recurrent candida infections  (IAGP)
Recurrent cutaneous abscess formation  (IAGP)
Recurrent fungal infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent sinopulmonary infections  (IAGP)
Recurrent sinusitis  (IAGP)
Recurrent viral infections  (IAGP)
Reduced natural killer cell count  (IAGP)
Schizophrenia  (IAGP)
Sclerosing cholangitis  (IAGP)
Sepsis  (IAGP)
Severe combined immunodeficiency  (IAGP)
Severe viral infection  (IAGP)
Skin ulcer  (IAGP)
Squamous cell carcinoma  (IAGP)
Squamous cell carcinoma of the vulva  (IAGP)
Subarachnoid hemorrhage  (IAGP)
T lymphocytopenia  (IAGP)
Verrucae  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait. Al-Herz W, etal., Clin Immunol. 2012 Jun;143(3):266-72. doi: 10.1016/j.clim.2012.03.002. Epub 2012 Mar 30.
2. DOCK8 Deficiency Presenting as an IPEX-Like Disorder. Alroqi FJ, etal., J Clin Immunol. 2017 Nov;37(8):811-819. doi: 10.1007/s10875-017-0451-1. Epub 2017 Oct 23.
3. A novel Dock8 gene mutation confers diabetogenic susceptibility in the LEW.1AR1/Ztm-iddm rat, an animal model of human type 1 diabetes. Arndt T, etal., Diabetologia. 2015 Dec;58(12):2800-9. doi: 10.1007/s00125-015-3757-7. Epub 2015 Sep 12.
4. Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. Dasouki M, etal., Clin Immunol. 2011 Nov;141(2):128-32. doi: 10.1016/j.clim.2011.06.003. Epub 2011 Jun 21.
5. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. Engelhardt KR, etal., J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi: 10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25.
6. New Gene Variants Associated with the Risk of Chronic HBV Infection. Fan M, etal., Virol Sin. 2020 Aug;35(4):378-387. doi: 10.1007/s12250-020-00200-x. Epub 2020 Apr 15.
7. Delayed control of herpes simplex virus infection and impaired CD4(+) T-cell migration to the skin in mouse models of DOCK8 deficiency. Flesch IE, etal., Immunol Cell Biol. 2015 Jul;93(6):517-21. doi: 10.1038/icb.2015.32. Epub 2015 Mar 17.
8. Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells. Janssen E, etal., J Allergy Clin Immunol. 2014 Dec;134(6):1365-1374. doi: 10.1016/j.jaci.2014.07.042. Epub 2014 Sep 11.
9. Ten-year follow-up of a DOCK8-deficient child with features of systemic lupus erythematosus. Jouhadi Z, etal., Pediatrics. 2014 Nov;134(5):e1458-63. doi: 10.1542/peds.2013-1383.
10. A set of clinical and laboratory markers differentiates hyper-IgE syndrome from severe atopic dermatitis. Kasap N, etal., Clin Immunol. 2020 Dec 7;223:108645. doi: 10.1016/j.clim.2020.108645.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. Randall KL, etal., J Exp Med. 2011 Oct 24;208(11):2305-20. doi: 10.1084/jem.20110345. Epub 2011 Oct 17.
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16. Additional diverse findings expand the clinical presentation of DOCK8 deficiency. Sanal O, etal., J Clin Immunol. 2012 Aug;32(4):698-708. doi: 10.1007/s10875-012-9664-5. Epub 2012 Apr 4.
Additional References at PubMed
PMID:8889548   PMID:10729223   PMID:11214971   PMID:12432077   PMID:12477932   PMID:14702039   PMID:15164053   PMID:15231748   PMID:15304341   PMID:15489334   PMID:16344560   PMID:16391785  
PMID:18029348   PMID:18060736   PMID:19640199   PMID:19776401   PMID:19946888   PMID:20004785   PMID:20379614   PMID:20467437   PMID:20596660   PMID:21058221   PMID:21178271   PMID:21178272  
PMID:21873635   PMID:21931011   PMID:21969276   PMID:22139419   PMID:22581261   PMID:22876580   PMID:22942019   PMID:22968740   PMID:23251661   PMID:23374272   PMID:23380217   PMID:23455509  
PMID:23859592   PMID:23891736   PMID:23911989   PMID:23929855   PMID:24255178   PMID:24698323   PMID:24722188   PMID:24898675   PMID:25220305   PMID:25416956   PMID:25422492   PMID:25428919  
PMID:26186194   PMID:26235511   PMID:26496610   PMID:26592211   PMID:26659092   PMID:26799599   PMID:26871637   PMID:26883462   PMID:27107014   PMID:27350570   PMID:27554822   PMID:27890707  
PMID:28028151   PMID:28065530   PMID:28067314   PMID:28225217   PMID:28366940   PMID:28514442   PMID:29419892   PMID:29467281   PMID:29472447   PMID:29892012   PMID:29930340   PMID:30021884  
PMID:30120291   PMID:30252138   PMID:30397357   PMID:30442766   PMID:30689480   PMID:31242861   PMID:31515488   PMID:31596517   PMID:31630188   PMID:31723608   PMID:31871319   PMID:32203420  
PMID:32296183   PMID:32372632   PMID:32665550   PMID:32989298   PMID:33290277   PMID:33545980   PMID:33634762   PMID:33948880   PMID:33961781   PMID:34189442   PMID:35271311   PMID:35278713  
PMID:35822685   PMID:35841182   PMID:36508760   PMID:36633785   PMID:36688959   PMID:36927749   PMID:37114940   PMID:37249651   PMID:37651233   PMID:37815217   PMID:38185418   PMID:38351896  
PMID:38587548  


Genomics

Comparative Map Data
DOCK8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389211,257 - 465,255 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9214,854 - 465,259 (+)EnsemblGRCh38hg38GRCh38
GRCh379214,865 - 465,255 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369263,048 - 455,255 (+)NCBINCBI36Build 36hg18NCBI36
Celera9129,697 - 382,253 (+)NCBICelera
Cytogenetic Map9p24.3NCBI
HuRef9168,609 - 417,080 (+)NCBIHuRef
CHM1_19215,319 - 464,907 (+)NCBICHM1_1
T2T-CHM13v2.09208,892 - 464,924 (+)NCBIT2T-CHM13v2.0
Dock8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391924,976,753 - 25,179,796 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1924,976,898 - 25,179,796 (+)EnsemblGRCm39 Ensembl
GRCm381924,999,321 - 25,202,432 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1924,999,534 - 25,202,432 (+)EnsemblGRCm38mm10GRCm38
MGSCv371925,074,019 - 25,276,922 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361925,066,626 - 25,269,529 (+)NCBIMGSCv36mm8
Celera1925,771,990 - 25,988,915 (+)NCBICelera
Cytogenetic Map19BNCBI
cM Map1919.91NCBI
Dock8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81232,075,468 - 232,268,830 (+)NCBIGRCr8
mRatBN7.21222,649,309 - 222,842,474 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1222,649,309 - 222,842,474 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1231,101,903 - 231,293,334 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01238,031,979 - 238,223,404 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01230,850,102 - 231,043,264 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01242,934,685 - 243,153,472 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1242,959,488 - 243,153,465 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01250,200,507 - 250,417,771 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41228,441,384 - 228,634,717 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1219,852,410 - 220,042,463 (+)NCBICelera
Cytogenetic Map1q51NCBI
Dock8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554344,867,016 - 5,049,118 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554344,849,147 - 5,050,545 (+)NCBIChiLan1.0ChiLan1.0
DOCK8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211124,121,179 - 124,370,714 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19124,127,121 - 124,376,660 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v096,791 - 256,837 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19201,156 - 446,910 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9201,156 - 446,910 (+)Ensemblpanpan1.1panPan2
DOCK8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1189,152,456 - 89,379,203 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl189,150,856 - 89,378,013 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha189,621,978 - 89,850,471 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0189,701,521 - 89,930,127 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl189,700,853 - 89,928,963 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1189,347,665 - 89,576,215 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0189,059,801 - 89,288,656 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0189,820,804 - 90,055,669 (+)NCBIUU_Cfam_GSD_1.0
Dock8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947136,597,710 - 136,810,653 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365034,363,926 - 4,574,932 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365034,362,573 - 4,575,307 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DOCK8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1221,256,009 - 221,491,953 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11221,257,771 - 221,491,889 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21247,516,602 - 247,752,057 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DOCK8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11279,060,579 - 79,298,145 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1279,060,425 - 79,298,164 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603867,459,893 - 67,698,795 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dock8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247364,959,634 - 5,193,928 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247364,959,482 - 5,195,182 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DOCK8
2241 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_203447.4(DOCK8):c.4641A>G (p.Val1547=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003771515] Chr9:432180 [GRCh38]
Chr9:432180 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4283A>T (p.Asn1428Ile) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762762]|not provided [RCV000521820] Chr9:426926 [GRCh38]
Chr9:426926 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4252G>A (p.Glu1418Lys) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001169371]|Inborn genetic diseases [RCV004619313]|not provided [RCV000522726] Chr9:426895 [GRCh38]
Chr9:426895 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1090C>T (p.Pro364Ser) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000697658]|not provided [RCV000521043] Chr9:332443 [GRCh38]
Chr9:332443 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596011]|Combined immunodeficiency due to DOCK8 deficiency [RCV000534712]|not provided [RCV000521228]|not specified [RCV003155221] Chr9:396837 [GRCh38]
Chr9:396837 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.6260G>A (p.Ser2087Asn) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV002538402]|Intellectual disability, autosomal dominant 2 [RCV001291751] Chr9:464179 [GRCh38]
Chr9:464179 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:207437-416351)x3 copy number gain See cases [RCV000133903] Chr9:207437..416351 [GRCh38]
Chr9:207437..416351 [GRCh37]
Chr9:197437..406351 [NCBI36]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.6167A>C (p.Asn2056Thr) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001348186] Chr9:463615 [GRCh38]
Chr9:463615 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.287C>T (p.Thr96Met) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762764]|not provided [RCV000523205] Chr9:286591 [GRCh38]
Chr9:286591 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1371T>C (p.Val457=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762783] Chr9:336667 [GRCh38]
Chr9:336667 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2779A>G (p.Ile927Val) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596014]|not provided [RCV000521870] Chr9:386331 [GRCh38]
Chr9:386331 [GRCh37]
Chr9:9p24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.2590G>A (p.Asp864Asn) single nucleotide variant not provided [RCV000520050] Chr9:379920 [GRCh38]
Chr9:379920 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1418A>G (p.Lys473Arg) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595851]|Combined immunodeficiency due to DOCK8 deficiency [RCV000000999] Chr9:336714 [GRCh38]
Chr9:336714 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.3(DOCK8):c.1126-395_2971-2751del deletion Combined immunodeficiency due to DOCK8 deficiency [RCV000001000] Chr9:333830..394034 [GRCh38]
Chr9:333830..394034 [GRCh37]
Chr9:323830..384034 [NCBI36]
Chr9:9p24.3		 pathogenic
NC_000009.12:g.311735_398140del deletion Combined immunodeficiency due to DOCK8 deficiency [RCV000001001] Chr9:311734..398139 [GRCh38]
Chr9:311734..398139 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.3494del (p.Thr1165fs) deletion Combined immunodeficiency due to DOCK8 deficiency [RCV000054450] Chr9:407033 [GRCh38]
Chr9:407033 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.3504_3505insTGGCTGCT (p.Ala1169fs) insertion Combined immunodeficiency due to DOCK8 deficiency [RCV000054451] Chr9:407040..407041 [GRCh38]
Chr9:407040..407041 [GRCh37]
Chr9:9p24.3		 pathogenic
GRCh38/hg38 9p24.3(chr9:204193-332515)x1 copy number loss See cases [RCV000050336] Chr9:204193..332515 [GRCh38]
Chr9:204193..332515 [GRCh37]
Chr9:194193..322515 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3(chr9:229198-381489)x3 copy number gain See cases [RCV000050562] Chr9:229198..381489 [GRCh38]
Chr9:229198..381489 [GRCh37]
Chr9:219198..371489 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-381489)x3 copy number gain See cases [RCV000050662] Chr9:204193..381489 [GRCh38]
Chr9:204193..381489 [GRCh37]
Chr9:194193..371489 [NCBI36]
Chr9:9p24.3		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 9p24.3(chr9:204193-381489)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050663]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050663]|See cases [RCV000050663] Chr9:204193..381489 [GRCh38]
Chr9:204193..381489 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-1288113)x3 copy number gain See cases [RCV000050695] Chr9:204193..1288113 [GRCh38]
Chr9:204193..1288113 [GRCh37]
Chr9:194193..1278113 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-1516367)x1 copy number loss See cases [RCV000050611] Chr9:204193..1516367 [GRCh38]
Chr9:204193..1516367 [GRCh37]
Chr9:194193..1506367 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-266104)x3 copy number gain See cases [RCV000050728] Chr9:204193..266104 [GRCh38]
Chr9:204193..266104 [GRCh37]
Chr9:194193..256104 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3(chr9:204193-295405)x3 copy number gain See cases [RCV000050426] Chr9:204193..295405 [GRCh38]
Chr9:204193..295405 [GRCh37]
Chr9:194193..285405 [NCBI36]
Chr9:9p24.3		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 9p24.3-24.2(chr9:220253-3793376)x1 copy number loss See cases [RCV000051039] Chr9:220253..3793376 [GRCh38]
Chr9:220253..3793376 [GRCh37]
Chr9:210253..3783376 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3(chr9:52389-356138)x3 copy number gain See cases [RCV000052191] Chr9:52389..356138 [GRCh38]
Chr9:52389..356138 [GRCh37]
Chr9:42389..346138 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:146194-389294)x3 copy number gain See cases [RCV000052201] Chr9:146194..389294 [GRCh38]
Chr9:199707..389294 [GRCh37]
Chr9:136194..379294 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:195399-340142)x3 copy number gain See cases [RCV000052202] Chr9:195399..340142 [GRCh38]
Chr9:199707..340142 [GRCh37]
Chr9:167560..330142 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:203993-500725)x3 copy number gain See cases [RCV000052203] Chr9:203993..500725 [GRCh38]
Chr9:203993..500725 [GRCh37]
Chr9:193993..490725 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-280314)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052204]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052204]|See cases [RCV000052204] Chr9:204193..280314 [GRCh38]
Chr9:204193..280314 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:242962-389294)x3 copy number gain See cases [RCV000052205] Chr9:242962..389294 [GRCh38]
Chr9:242962..389294 [GRCh37]
Chr9:232962..379294 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-315028)x1 copy number loss See cases [RCV000052823] Chr9:204193..315028 [GRCh38]
Chr9:204193..315028 [GRCh37]
Chr9:194193..305028 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:211086-274576)x1 copy number loss See cases [RCV000052843] Chr9:211086..274576 [GRCh38]
Chr9:211086..274576 [GRCh37]
Chr9:201086..264576 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:220053-295546)x1 copy number loss See cases [RCV000052844] Chr9:220053..295546 [GRCh38]
Chr9:220053..295546 [GRCh37]
Chr9:210053..285546 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:220253-1243237)x1 copy number loss See cases [RCV000052845] Chr9:220253..1243237 [GRCh38]
Chr9:220253..1243237 [GRCh37]
Chr9:210253..1233237 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:313298-472145)x1 copy number loss See cases [RCV000052846] Chr9:313298..472145 [GRCh38]
Chr9:313298..472145 [GRCh37]
Chr9:303298..462145 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1 copy number loss See cases [RCV000052858] Chr9:220253..6073001 [GRCh38]
Chr9:220253..6073001 [GRCh37]
Chr9:210253..6063001 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1 copy number loss See cases [RCV000052859] Chr9:220253..5140455 [GRCh38]
Chr9:220253..5140455 [GRCh37]
Chr9:210253..5130455 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 copy number loss See cases [RCV000052861] Chr9:220253..6968724 [GRCh38]
Chr9:220253..6968724 [GRCh37]
Chr9:210253..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:280255-3905421)x1 copy number loss See cases [RCV000052862] Chr9:280255..3905421 [GRCh38]
Chr9:280255..3905421 [GRCh37]
Chr9:270255..3895421 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3 copy number gain See cases [RCV000053705] Chr9:204193..3468435 [GRCh38]
Chr9:204193..3468435 [GRCh37]
Chr9:194193..3458435 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3(chr9:204193-229257)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053476]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053476]|See cases [RCV000053476] Chr9:204193..229257 [GRCh38]
Chr9:204193..229257 [GRCh37]
Chr9:194193..219257 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3-24.2(chr9:203993-4164349)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]|See cases [RCV000054328] Chr9:203993..4164349 [GRCh38]
Chr9:203993..4164349 [GRCh37]
Chr9:193993..4154349 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 copy number loss See cases [RCV000054331] Chr9:204193..10340779 [GRCh38]
Chr9:204193..10340779 [GRCh37]
Chr9:194193..10330779 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] Chr9:204193..12302772 [GRCh38]
Chr9:204193..12302772 [GRCh37]
Chr9:194193..12292772 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] Chr9:204193..9363321 [GRCh38]
Chr9:204193..9363321 [GRCh37]
Chr9:194193..9353321 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1 copy number loss See cases [RCV000054340] Chr9:211086..6106482 [GRCh38]
Chr9:211086..6106482 [GRCh37]
Chr9:201086..6096482 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 copy number loss See cases [RCV000054341] Chr9:211086..11867480 [GRCh38]
Chr9:211086..11867480 [GRCh37]
Chr9:201086..11857480 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 copy number loss See cases [RCV000054316] Chr9:195399..11081440 [GRCh38]
Chr9:199707..11081440 [GRCh37]
Chr9:182102..11071440 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 copy number loss See cases [RCV000054327] Chr9:203993..12621562 [GRCh38]
Chr9:203993..12621562 [GRCh37]
Chr9:193993..12611562 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_203447.4(DOCK8):c.2296G>A (p.Glu766Lys) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595859]|Combined immunodeficiency due to DOCK8 deficiency [RCV000811391]|not provided [RCV002262619]|not specified [RCV001818235] Chr9:377067 [GRCh38]
Chr9:377067 [GRCh37]
Chr9:367067 [NCBI36]
Chr9:9p24.3		 uncertain significance|not provided
NM_203447.3(DOCK8):c.5962-1034T>C single nucleotide variant Lung cancer [RCV000108331] Chr9:450977 [GRCh38]
Chr9:450977 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1692T>C (p.Tyr564=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761751]|Combined immunodeficiency due to DOCK8 deficiency [RCV000363184]|not specified [RCV000155527] Chr9:368030 [GRCh38]
Chr9:368030 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1790C>T (p.Ala597Val) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761752]|Combined immunodeficiency due to DOCK8 deficiency [RCV000268489]|not specified [RCV000150509] Chr9:368128 [GRCh38]
Chr9:368128 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.1812A>G (p.Lys604=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761753]|Combined immunodeficiency due to DOCK8 deficiency [RCV000377272]|not provided [RCV001824620]|not specified [RCV000155528] Chr9:370244 [GRCh38]
Chr9:370244 [GRCh37]
Chr9:9p24.3		 benign|not provided
NM_203447.4(DOCK8):c.2295C>T (p.Ser765=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761754]|Combined immunodeficiency due to DOCK8 deficiency [RCV000560189]|not specified [RCV000124767] Chr9:377066 [GRCh38]
Chr9:377066 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.2340G>C (p.Leu780=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761755]|Combined immunodeficiency due to DOCK8 deficiency [RCV000296192]|not provided [RCV001824621]|not specified [RCV000150510] Chr9:377111 [GRCh38]
Chr9:377111 [GRCh37]
Chr9:9p24.3		 benign|not provided
NM_203447.4(DOCK8):c.2778+20G>A single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761756]|not specified [RCV000124769] Chr9:382705 [GRCh38]
Chr9:382705 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.2916C>T (p.Thr972=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761757]|Combined immunodeficiency due to DOCK8 deficiency [RCV000379965]|not provided [RCV001824622]|not specified [RCV000155529] Chr9:390512 [GRCh38]
Chr9:390512 [GRCh37]
Chr9:9p24.3		 benign|not provided
NM_203447.4(DOCK8):c.3021T>C (p.Phe1007=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761758]|Combined immunodeficiency due to DOCK8 deficiency [RCV000550542]|not specified [RCV000155530] Chr9:396835 [GRCh38]
Chr9:396835 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.3208A>G (p.Asn1070Asp) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761759]|Combined immunodeficiency due to DOCK8 deficiency [RCV000525750]|not specified [RCV000150511] Chr9:399233 [GRCh38]
Chr9:399233 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761760]|Combined immunodeficiency due to DOCK8 deficiency [RCV000538192]|not provided [RCV001795229]|not specified [RCV000150512] Chr9:399255 [GRCh38]
Chr9:399255 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.3234+8T>C single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761761]|not specified [RCV000124774] Chr9:399267 [GRCh38]
Chr9:399267 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.3234+16A>C single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761762]|not specified [RCV000124775] Chr9:399275 [GRCh38]
Chr9:399275 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.3565A>G (p.Ile1189Val) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761763]|Combined immunodeficiency due to DOCK8 deficiency [RCV001079766]|not provided [RCV000224213]|not specified [RCV000124776] Chr9:414816 [GRCh38]
Chr9:414816 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.5154C>T (p.Cys1718=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761764]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645172]|DOCK8-related disorder [RCV003935186]|not specified [RCV000124777] Chr9:439319 [GRCh38]
Chr9:439319 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.5187A>G (p.Val1729=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761765]|Combined immunodeficiency due to DOCK8 deficiency [RCV000543909]|not specified [RCV000124778] Chr9:439352 [GRCh38]
Chr9:439352 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.5211G>A (p.Glu1737=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761766]|Combined immunodeficiency due to DOCK8 deficiency [RCV000560845]|not specified [RCV000124779] Chr9:439376 [GRCh38]
Chr9:439376 [GRCh37]
Chr9:9p24.3		 benign|uncertain significance
NM_203447.4(DOCK8):c.5491-7T>A single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595867]|Combined immunodeficiency due to DOCK8 deficiency [RCV000389112]|not specified [RCV000124780] Chr9:443420 [GRCh38]
Chr9:443420 [GRCh37]
Chr9:9p24.3		 benign|likely benign|uncertain significance
NM_203447.4(DOCK8):c.5818-14C>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761767]|Combined immunodeficiency due to DOCK8 deficiency [RCV000342939]|not specified [RCV000124781] Chr9:449770 [GRCh38]
Chr9:449770 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.5832G>A (p.Pro1944=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761768]|Combined immunodeficiency due to DOCK8 deficiency [RCV000298530]|not specified [RCV000150517] Chr9:449798 [GRCh38]
Chr9:449798 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761769]|Combined immunodeficiency due to DOCK8 deficiency [RCV000353234]|not specified [RCV000155536] Chr9:449874 [GRCh38]
Chr9:449874 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.187G>A (p.Asp63Asn) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761771]|Combined immunodeficiency due to DOCK8 deficiency [RCV000276708]|not provided [RCV001824624]|not specified [RCV000150505] Chr9:286491 [GRCh38]
Chr9:286491..286492 [GRCh38]
Chr9:286491 [GRCh37]
Chr9:286491..286492 [GRCh37]
Chr9:9p24.3		 benign|likely benign|not provided
NM_203447.4(DOCK8):c.699T>C (p.Asn233=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761772]|Combined immunodeficiency due to DOCK8 deficiency [RCV000314699]|not provided [RCV001824625]|not specified [RCV000150506] Chr9:312124 [GRCh38]
Chr9:312124 [GRCh37]
Chr9:9p24.3		 benign|not provided
NM_203447.4(DOCK8):c.2485A>C (p.Asn829His) single nucleotide variant not provided [RCV003223829] Chr9:379815 [GRCh38]
Chr9:379815 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1797+61A>C single nucleotide variant not provided [RCV000171422] Chr9:368196 [GRCh38]
Chr9:368196 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_203447.4(DOCK8):c.5962-36_5962-27del deletion not provided [RCV001572315] Chr9:451974..451983 [GRCh38]
Chr9:451974..451983 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1680-150A>G single nucleotide variant not provided [RCV001545355] Chr9:367868 [GRCh38]
Chr9:367868 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.5671C>T (p.Arg1891Trp) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001312525]|Inborn genetic diseases [RCV002545049] Chr9:446460 [GRCh38]
Chr9:446460 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 copy number loss See cases [RCV000133873] Chr9:204193..10473327 [GRCh38]
Chr9:204193..10473327 [GRCh37]
Chr9:194193..10463327 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3(chr9:239426-315028)x3 copy number gain See cases [RCV000133837] Chr9:239426..315028 [GRCh38]
Chr9:239426..315028 [GRCh37]
Chr9:229426..305028 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3(chr9:220253-332515)x3 copy number gain See cases [RCV000133841] Chr9:220253..332515 [GRCh38]
Chr9:220253..332515 [GRCh37]
Chr9:210253..322515 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3(chr9:204193-381489)x1 copy number loss See cases [RCV000050663] Chr9:204193..381489 [GRCh38]
Chr9:204193..381489 [GRCh37]
Chr9:194193..371489 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-280314)x3 copy number gain See cases [RCV000052204] Chr9:204193..280314 [GRCh38]
Chr9:204193..280314 [GRCh37]
Chr9:194193..270314 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 copy number loss See cases [RCV000133728] Chr9:204193..10164955 [GRCh38]
Chr9:204193..10164955 [GRCh37]
Chr9:194193..10154955 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3(chr9:245823-295405)x3 copy number gain See cases [RCV000133776] Chr9:245823..295405 [GRCh38]
Chr9:245823..295405 [GRCh37]
Chr9:235823..285405 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3(chr9:204090-280321)x3 copy number gain See cases [RCV000134712] Chr9:204090..280321 [GRCh38]
Chr9:204090..280321 [GRCh37]
Chr9:194090..270321 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3(chr9:163131-271257)x3 copy number gain See cases [RCV000134376] Chr9:163131..271257 [GRCh38]
Chr9:163131..271257 [GRCh37]
Chr9:153131..261257 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3-24.2(chr9:204193-4210335)x1 copy number loss See cases [RCV000134138] Chr9:204193..4210335 [GRCh38]
Chr9:204193..4210335 [GRCh37]
Chr9:194193..4200335 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3(chr9:271257-314969)x3 copy number gain See cases [RCV000134652] Chr9:271257..314969 [GRCh38]
Chr9:271257..314969 [GRCh37]
Chr9:261257..304969 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3(chr9:204090-639077)x3 copy number gain See cases [RCV000133932] Chr9:204090..639077 [GRCh38]
Chr9:204090..639077 [GRCh37]
Chr9:194090..629077 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 copy number loss See cases [RCV000133923] Chr9:204193..11277770 [GRCh38]
Chr9:204193..11277770 [GRCh37]
Chr9:194193..11267770 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3(chr9:204090-381572)x3 copy number gain See cases [RCV000134805] Chr9:204090..381572 [GRCh38]
Chr9:204090..381572 [GRCh37]
Chr9:194090..371572 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3(chr9:329684-500525)x3 copy number gain See cases [RCV000135109] Chr9:329684..500525 [GRCh38]
Chr9:329684..500525 [GRCh37]
Chr9:319684..490525 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3(chr9:211086-356079)x3 copy number gain See cases [RCV000135114] Chr9:211086..356079 [GRCh38]
Chr9:211086..356079 [GRCh37]
Chr9:201086..346079 [NCBI36]
Chr9:9p24.3		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 9p24.3(chr9:185579-288161)x4 copy number gain See cases [RCV000135243] Chr9:185579..288161 [GRCh38]
Chr9:185579..288161 [GRCh37]
Chr9:175579..278161 [NCBI36]
Chr9:9p24.3		 likely benign
GRCh38/hg38 9p24.3(chr9:211086-271257)x3 copy number gain See cases [RCV000135248] Chr9:211086..271257 [GRCh38]
Chr9:211086..271257 [GRCh37]
Chr9:201086..261257 [NCBI36]
Chr9:9p24.3		 likely benign
GRCh38/hg38 9p24.3(chr9:266045-381489)x1 copy number loss See cases [RCV000134928] Chr9:266045..381489 [GRCh38]
Chr9:266045..381489 [GRCh37]
Chr9:256045..371489 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:280255-753314)x1 copy number loss See cases [RCV000135814] Chr9:280255..753314 [GRCh38]
Chr9:280255..753314 [GRCh37]
Chr9:270255..743314 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3(chr9:204193-280314)x1 copy number loss See cases [RCV000135716] Chr9:204193..280314 [GRCh38]
Chr9:204193..280314 [GRCh37]
Chr9:194193..270314 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:381430-839211)x3 copy number gain See cases [RCV000135717] Chr9:381430..839211 [GRCh38]
Chr9:381430..839211 [GRCh37]
Chr9:371430..829211 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 copy number loss See cases [RCV000135434] Chr9:220253..8866675 [GRCh38]
Chr9:220253..8866675 [GRCh37]
Chr9:210253..8856675 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 copy number loss See cases [RCV000135544] Chr9:204193..6968724 [GRCh38]
Chr9:204193..6968724 [GRCh37]
Chr9:194193..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 copy number loss See cases [RCV000135563] Chr9:204193..10852686 [GRCh38]
Chr9:204193..10852686 [GRCh37]
Chr9:194193..10842686 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3(chr9:203993-381630)x3 copy number gain See cases [RCV000135423] Chr9:203993..381630 [GRCh38]
Chr9:203993..381630 [GRCh37]
Chr9:193993..371630 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3(chr9:204104-343954)x3 copy number gain See cases [RCV000136123] Chr9:204104..343954 [GRCh38]
Chr9:204104..343954 [GRCh37]
Chr9:194104..333954 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 copy number loss See cases [RCV000135935] Chr9:204104..11298187 [GRCh38]
Chr9:204104..11298187 [GRCh37]
Chr9:194104..11288187 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3(chr9:204090-260429)x1 copy number loss See cases [RCV000136051] Chr9:204090..260429 [GRCh38]
Chr9:204090..260429 [GRCh37]
Chr9:194090..250429 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3(chr9:220253-381489)x3 copy number gain See cases [RCV000136962] Chr9:220253..381489 [GRCh38]
Chr9:220253..381489 [GRCh37]
Chr9:210253..371489 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 copy number loss See cases [RCV000136966] Chr9:204193..11435662 [GRCh38]
Chr9:204193..11435662 [GRCh37]
Chr9:194193..11425662 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3(chr9:204193-254712)x1 copy number loss See cases [RCV000136632] Chr9:204193..254712 [GRCh38]
Chr9:204193..254712 [GRCh37]
Chr9:194193..244712 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:314969-910448)x4 copy number gain See cases [RCV000136638] Chr9:314969..910448 [GRCh38]
Chr9:314969..910448 [GRCh37]
Chr9:304969..900448 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-1592365)x1 copy number loss See cases [RCV000136667] Chr9:204193..1592365 [GRCh38]
Chr9:204193..1592365 [GRCh37]
Chr9:194193..1582365 [NCBI36]
Chr9:9p24.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 copy number loss See cases [RCV000137455] Chr9:204104..8266492 [GRCh38]
Chr9:204104..8266492 [GRCh37]
Chr9:194104..8256492 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 copy number gain See cases [RCV000137382] Chr9:204104..11610300 [GRCh38]
Chr9:204104..11610300 [GRCh37]
Chr9:194104..11600300 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3 copy number gain See cases [RCV000137339] Chr9:204104..5426099 [GRCh38]
Chr9:204104..5426099 [GRCh37]
Chr9:194104..5416099 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204104-3367760)x1 copy number loss See cases [RCV000137259] Chr9:204104..3367760 [GRCh38]
Chr9:204104..3367760 [GRCh37]
Chr9:194104..3357760 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1 copy number loss See cases [RCV000137376] Chr9:204104..5695507 [GRCh38]
Chr9:204104..5695507 [GRCh37]
Chr9:194104..5685507 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1 copy number loss See cases [RCV000138118] Chr9:204104..5657733 [GRCh38]
Chr9:204104..5657733 [GRCh37]
Chr9:194104..5647733 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 copy number loss See cases [RCV000138119] Chr9:204104..10023901 [GRCh38]
Chr9:204104..10023901 [GRCh37]
Chr9:194104..10013901 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3(chr9:204104-291408)x3 copy number gain See cases [RCV000138148] Chr9:204104..291408 [GRCh38]
Chr9:204104..291408 [GRCh37]
Chr9:194104..281408 [NCBI36]
Chr9:9p24.3		 likely benign
GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 copy number loss See cases [RCV000137745] Chr9:204104..7133443 [GRCh38]
Chr9:204104..7133443 [GRCh37]
Chr9:194104..7123443 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.2(chr9:204104-3755031)x1 copy number loss See cases [RCV000137914] Chr9:204104..3755031 [GRCh38]
Chr9:204104..3755031 [GRCh37]
Chr9:194104..3745031 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3(chr9:204090-348963)x3 copy number gain See cases [RCV000138739] Chr9:204090..348963 [GRCh38]
Chr9:204090..348963 [GRCh37]
Chr9:194090..338963 [NCBI36]
Chr9:9p24.3		 likely benign
GRCh38/hg38 9p24.3(chr9:266054-332539)x3 copy number gain See cases [RCV000138467] Chr9:266054..332539 [GRCh38]
Chr9:266054..332539 [GRCh37]
Chr9:256054..322539 [NCBI36]
Chr9:9p24.3		 likely benign
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3(chr9:204090-416321)x1 copy number loss See cases [RCV000138500] Chr9:204090..416321 [GRCh38]
Chr9:204090..416321 [GRCh37]
Chr9:194090..406321 [NCBI36]
Chr9:9p24.3		 pathogenic
GRCh38/hg38 9p24.3(chr9:204104-1457665)x1 copy number loss See cases [RCV000138306] Chr9:204104..1457665 [GRCh38]
Chr9:204104..1457665 [GRCh37]
Chr9:194104..1447665 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:204090-271186)x3 copy number gain See cases [RCV000139387] Chr9:204090..271186 [GRCh38]
Chr9:204090..271186 [GRCh37]
Chr9:194090..261186 [NCBI36]
Chr9:9p24.3		 likely benign
GRCh38/hg38 9p24.3(chr9:266054-304530)x3 copy number gain See cases [RCV000139392] Chr9:266054..304530 [GRCh38]
Chr9:266054..304530 [GRCh37]
Chr9:256054..294530 [NCBI36]
Chr9:9p24.3		 likely benign
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3(chr9:325759-500607)x3 copy number gain See cases [RCV000139209] Chr9:325759..500607 [GRCh38]
Chr9:325759..500607 [GRCh37]
Chr9:315759..490607 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3(chr9:204090-291379)x3 copy number gain See cases [RCV000138982] Chr9:204090..291379 [GRCh38]
Chr9:204090..291379 [GRCh37]
Chr9:194090..281379 [NCBI36]
Chr9:9p24.3		 likely benign
GRCh38/hg38 9p24.3(chr9:260370-416321)x3 copy number gain See cases [RCV000139007] Chr9:260370..416321 [GRCh38]
Chr9:260370..416321 [GRCh37]
Chr9:250370..406321 [NCBI36]
Chr9:9p24.3		 likely benign
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3(chr9:459131-862833)x3 copy number gain See cases [RCV000139154] Chr9:459131..862833 [GRCh38]
Chr9:459131..862833 [GRCh37]
Chr9:449131..852833 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3(chr9:349034-862771)x3 copy number gain See cases [RCV000140409] Chr9:349034..862771 [GRCh38]
Chr9:349034..862771 [GRCh37]
Chr9:339034..852771 [NCBI36]
Chr9:9p24.3		 likely benign
GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1 copy number loss See cases [RCV000140410] Chr9:204104..6322471 [GRCh38]
Chr9:204104..6322471 [GRCh37]
Chr9:194104..6312471 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761826]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645157]|DOCK8-related disorder [RCV003401098]|not provided [RCV001697210]|not specified [RCV000202995] Chr9:396872 [GRCh38]
Chr9:396872 [GRCh37]
Chr9:9p24.3		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 copy number loss See cases [RCV000139566] Chr9:204090..9282864 [GRCh38]
Chr9:204090..9282864 [GRCh37]
Chr9:194090..9272864 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 copy number loss See cases [RCV000141407] Chr9:185579..7635806 [GRCh38]
Chr9:185579..7635806 [GRCh37]
Chr9:175579..7625806 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 copy number loss See cases [RCV000141408] Chr9:211086..11457340 [GRCh38]
Chr9:211086..11457340 [GRCh37]
Chr9:201086..11447340 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3(chr9:203861-547543)x3 copy number gain See cases [RCV000140896] Chr9:203861..547543 [GRCh38]
Chr9:203861..547543 [GRCh37]
Chr9:193861..537543 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:254654-329684)x3 copy number gain See cases [RCV000140626] Chr9:254654..329684 [GRCh38]
Chr9:254654..329684 [GRCh37]
Chr9:244654..319684 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3(chr9:211086-314969)x3 copy number gain See cases [RCV000140637] Chr9:211086..314969 [GRCh38]
Chr9:211086..314969 [GRCh37]
Chr9:201086..304969 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3(chr9:62525-386070)x3 copy number gain See cases [RCV000140710] Chr9:62525..386070 [GRCh38]
Chr9:62525..386070 [GRCh37]
Chr9:52525..376070 [NCBI36]
Chr9:9p24.3		 likely benign
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 copy number loss See cases [RCV000140601] Chr9:211086..7444397 [GRCh38]
Chr9:211086..7444397 [GRCh37]
Chr9:201086..7434397 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3(chr9:409397-560630)x1 copy number loss See cases [RCV000141954] Chr9:409397..560630 [GRCh38]
Chr9:409397..560630 [GRCh37]
Chr9:399397..550630 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-416351)x3 copy number gain See cases [RCV000141598] Chr9:204193..416351 [GRCh38]
Chr9:204193..416351 [GRCh37]
Chr9:194193..406351 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3(chr9:204090-318901)x3 copy number gain See cases [RCV000142418] Chr9:204090..318901 [GRCh38]
Chr9:204090..318901 [GRCh37]
Chr9:194090..308901 [NCBI36]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3-24.2(chr9:203861-4585050)x1 copy number loss See cases [RCV000142301] Chr9:203861..4585050 [GRCh38]
Chr9:203861..4585050 [GRCh37]
Chr9:193861..4575050 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 copy number loss See cases [RCV000142074] Chr9:203861..8172957 [GRCh38]
Chr9:203861..8172957 [GRCh37]
Chr9:193861..8162957 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3(chr9:396379-1198422)x3 copy number gain See cases [RCV000142094] Chr9:396379..1198422 [GRCh38]
Chr9:396379..1198422 [GRCh37]
Chr9:386379..1188422 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3 copy number gain See cases [RCV000142816] Chr9:204090..4970154 [GRCh38]
Chr9:204090..4970154 [GRCh37]
Chr9:194090..4960154 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3(chr9:204090-416321)x3 copy number gain See cases [RCV000142841] Chr9:204090..416321 [GRCh38]
Chr9:204090..416321 [GRCh37]
Chr9:194090..406321 [NCBI36]
Chr9:9p24.3		 likely benign
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 copy number loss See cases [RCV000142688] Chr9:220253..7733826 [GRCh38]
Chr9:220253..7733826 [GRCh37]
Chr9:210253..7723826 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:266045-3346702)x1 copy number loss See cases [RCV000142630] Chr9:266045..3346702 [GRCh38]
Chr9:266045..3346702 [GRCh37]
Chr9:256045..3336702 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3(chr9:254654-399596)x4 copy number gain See cases [RCV000143213] Chr9:254654..399596 [GRCh38]
Chr9:254654..399596 [GRCh37]
Chr9:244654..389596 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-5094461)x1 copy number loss See cases [RCV000143637] Chr9:203861..5094461 [GRCh38]
Chr9:203861..5094461 [GRCh37]
Chr9:193861..5084461 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761770]|Combined immunodeficiency due to DOCK8 deficiency [RCV000210052]|not provided [RCV001824623]|not specified [RCV000150504] Chr9:271638 [GRCh38]
Chr9:271638 [GRCh37]
Chr9:9p24.3		 benign|not provided
GRCh38/hg38 9p24.3(chr9:204193-332515)x1 copy number loss See cases [RCV000148280] Chr9:204193..332515 [GRCh38]
Chr9:204193..332515 [GRCh37]
Chr9:194193..322515 [NCBI36]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.404+16del deletion Autosomal recessive hyper-IgE syndrome [RCV003761800]|Hyper-IgE syndrome [RCV000378054]|not provided [RCV001640194]|not specified [RCV000156840] Chr9:289591 [GRCh38]
Chr9:289591 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761786]|Combined immunodeficiency due to DOCK8 deficiency [RCV000524882]|not provided [RCV001618303]|not specified [RCV000150507] Chr9:312134 [GRCh38]
Chr9:312134 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761787]|Combined immunodeficiency due to DOCK8 deficiency [RCV000364547]|not provided [RCV001636690]|not specified [RCV000150508] Chr9:334337 [GRCh38]
Chr9:334337..334338 [GRCh38]
Chr9:334337 [GRCh37]
Chr9:334337..334338 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761788]|Combined immunodeficiency due to DOCK8 deficiency [RCV000533004]|not provided [RCV001719931]|not specified [RCV000150513] Chr9:414824 [GRCh38]
Chr9:414824 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.4785+6C>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761789]|Combined immunodeficiency due to DOCK8 deficiency [RCV000403442]|not provided [RCV001719932]|not specified [RCV000150514] Chr9:432330 [GRCh38]
Chr9:432330 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.4886+3A>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761790]|Combined immunodeficiency due to DOCK8 deficiency [RCV000309557]|not provided [RCV001719933]|not specified [RCV000150515] Chr9:433978 [GRCh38]
Chr9:433978 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.5001C>T (p.His1667=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761791]|Combined immunodeficiency due to DOCK8 deficiency [RCV000559639]|not specified [RCV000150516] Chr9:434897 [GRCh38]
Chr9:434897 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761795]|Combined immunodeficiency due to DOCK8 deficiency [RCV000210057]|not provided [RCV001719974]|not specified [RCV000155526] Chr9:286593 [GRCh38]
Chr9:286593 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.3022C>T (p.Arg1008Trp) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761796]|Combined immunodeficiency due to DOCK8 deficiency [RCV001085977]|not provided [RCV000766854]|not specified [RCV000155531] Chr9:396836 [GRCh38]
Chr9:396836 [GRCh37]
Chr9:9p24.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.3826G>T (p.Val1276Leu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595871]|DOCK8-related disorder [RCV003945237]|not specified [RCV000155532] Chr9:418193 [GRCh38]
Chr9:418193 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761797]|Combined immunodeficiency due to DOCK8 deficiency [RCV000210048]|not provided [RCV001719975]|not specified [RCV000155533] Chr9:421032 [GRCh38]
Chr9:421032 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.4491T>C (p.Phe1497=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761798]|Combined immunodeficiency due to DOCK8 deficiency [RCV001518498]|not specified [RCV000155534] Chr9:429719 [GRCh38]
Chr9:429719 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761799]|Combined immunodeficiency due to DOCK8 deficiency [RCV000210054]|not provided [RCV001675645]|not specified [RCV000155535] Chr9:441952 [GRCh38]
Chr9:441952 [GRCh37]
Chr9:9p24.3		 benign
GRCh38/hg38 9p24.3(chr9:204193-381489)x3 copy number gain See cases [RCV000148203] Chr9:204193..381489 [GRCh38]
Chr9:204193..381489 [GRCh37]
Chr9:194193..371489 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3(chr9:204193-295405)x3 copy number gain See cases [RCV000148192] Chr9:204193..295405 [GRCh38]
Chr9:204193..295405 [GRCh37]
Chr9:194193..285405 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
NM_207305.4(FOXD4):c.-155989_*70213dup duplication Normal pregnancy [RCV000161555] Chr9:46587..274108 [GRCh38]
Chr9:46587..274108 [GRCh37]
Chr9:9p24.3		 not provided
NM_203447.4(DOCK8):c.1680-13684_1680-12225del deletion Normal pregnancy [RCV000161556] Chr9:354333..355792 [GRCh38]
Chr9:354333..355792 [GRCh37]
Chr9:9p24.3		 not provided
NM_153186.4(KANK1):c.-312435_-438+216dup duplication Normal pregnancy [RCV000161557] Chr9:395250..707463 [GRCh38]
Chr9:395250..707463 [GRCh37]
Chr9:9p24.3		 not provided
NM_203447.4(DOCK8):c.685G>C (p.Ala229Pro) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000805324]|not provided [RCV000179574] Chr9:312110 [GRCh38]
Chr9:312110 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.314C>G (p.Pro105Arg) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001229849]|not provided [RCV000177435] Chr9:286618 [GRCh38]
Chr9:286618 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.949C>T (p.Arg317Ter) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595907]|Combined immunodeficiency due to DOCK8 deficiency [RCV002282098]|not provided [RCV000398158] Chr9:328076 [GRCh38]
Chr9:328076 [GRCh37]
Chr9:9p24.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_203447.4(DOCK8):c.2553C>T (p.Tyr851=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001483743] Chr9:379883 [GRCh38]
Chr9:379883 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595894]|Combined immunodeficiency due to DOCK8 deficiency [RCV000808945]|DOCK8-related disorder [RCV003947716]|not provided [RCV000766471]|not specified [RCV000213603] Chr9:372194 [GRCh38]
Chr9:372194 [GRCh37]
Chr9:9p24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.3840+3A>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761829]|Combined immunodeficiency due to DOCK8 deficiency [RCV001084124]|not provided [RCV000513764]|not specified [RCV000213640] Chr9:418210 [GRCh38]
Chr9:418210 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.3487C>T (p.Leu1163Phe) single nucleotide variant not specified [RCV000215966] Chr9:407026 [GRCh38]
Chr9:407026 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3543A>G (p.Val1181=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595893]|Combined immunodeficiency due to DOCK8 deficiency [RCV000893485]|not specified [RCV000216010] Chr9:414794 [GRCh38]
Chr9:414794 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.5207C>G (p.Ala1736Gly) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001332034]|not specified [RCV000220948] Chr9:439372 [GRCh38]
Chr9:439372 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.6019dup (p.Tyr2007fs) duplication Autosomal recessive hyper-IgE syndrome [RCV003595892]|Combined immunodeficiency due to DOCK8 deficiency [RCV000210045] Chr9:452067..452068 [GRCh38]
Chr9:452067..452068 [GRCh37]
Chr9:9p24.3		 pathogenic
Single allele deletion Combined immunodeficiency due to DOCK8 deficiency [RCV000210049] Chr9:204193..343954 [GRCh38]
Chr9:204193..343954 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.53+52T>G single nucleotide variant not provided [RCV000224661] Chr9:215081 [GRCh38]
Chr9:215081 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3(chr9:46587-262191)x3 copy number gain Premature ovarian failure [RCV000225168] Chr9:46587..262191 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:244457-262191)x3 copy number gain Premature ovarian failure [RCV000225214] Chr9:244457..262191 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.952G>A (p.Ala318Thr) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761832]|Combined immunodeficiency due to DOCK8 deficiency [RCV001084084]|not provided [RCV000223977]|not specified [RCV000825668] Chr9:328079 [GRCh38]
Chr9:328079 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.1193G>A (p.Arg398Gln) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595897]|Combined immunodeficiency due to DOCK8 deficiency [RCV000815203]|Intellectual disability [RCV001251746]|not provided [RCV000224045] Chr9:334292 [GRCh38]
Chr9:334292 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3(chr9:214254-433906)x3 copy number gain See cases [RCV000239840] Chr9:214254..433906 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.895-16T>C single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761880]|Combined immunodeficiency due to DOCK8 deficiency [RCV001511650]|not provided [RCV001636843]|not specified [RCV000254302] Chr9:328006 [GRCh38]
Chr9:328006 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.5581-18G>C single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761879]|Combined immunodeficiency due to DOCK8 deficiency [RCV001511652]|not provided [RCV001722367]|not specified [RCV000254398] Chr9:446352 [GRCh38]
Chr9:446352 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.54-1G>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761883]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645149]|DOCK8-related disorder [RCV003930033]|Intellectual disability [RCV001251745]|not provided [RCV000256030]|not specified [RCV000825915] Chr9:271626 [GRCh38]
Chr9:271626 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_203447.4(DOCK8):c.2805_2811del (p.Met935fs) deletion not provided [RCV000521455] Chr9:386357..386363 [GRCh38]
Chr9:386357..386363 [GRCh37]
Chr9:9p24.3		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
NM_203447.4(DOCK8):c.*990T>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000283829] Chr9:465209 [GRCh38]
Chr9:465209 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1044+13G>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761950]|Combined immunodeficiency due to DOCK8 deficiency [RCV000301184] Chr9:328184 [GRCh38]
Chr9:328184 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.2862A>T (p.Pro954=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761953]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645181]|not provided [RCV001618674]|not specified [RCV000609912] Chr9:386414 [GRCh38]
Chr9:386414 [GRCh37]
Chr9:9p24.3		 benign|uncertain significance
NM_203447.4(DOCK8):c.*1031G>A single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000322460] Chr9:465250 [GRCh38]
Chr9:465250 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3195G>A (p.Arg1065=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761956]|Combined immunodeficiency due to DOCK8 deficiency [RCV000346650] Chr9:399220 [GRCh38]
Chr9:399220 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.1441G>A (p.Asp481Asn) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761951]|Combined immunodeficiency due to DOCK8 deficiency [RCV001057448] Chr9:339024 [GRCh38]
Chr9:339024 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1797+13A>C single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595943]|Combined immunodeficiency due to DOCK8 deficiency [RCV000323624] Chr9:368148 [GRCh38]
Chr9:368148 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.452G>A (p.Arg151Gln) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761946]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645182]|DOCK8-related disorder [RCV003897816]|not provided [RCV004584698]|not specified [RCV000413355] Chr9:304628 [GRCh38]
Chr9:304628 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.1391C>A (p.Ser464Tyr) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595942]|Combined immunodeficiency due to DOCK8 deficiency [RCV000269945] Chr9:336687 [GRCh38]
Chr9:336687 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.2739C>T (p.Ser913=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761952]|Combined immunodeficiency due to DOCK8 deficiency [RCV000557001]|not provided [RCV001718796] Chr9:382646 [GRCh38]
Chr9:382646 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.53+11C>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595937]|Combined immunodeficiency due to DOCK8 deficiency [RCV000373258]|not provided [RCV004696129] Chr9:215040 [GRCh38]
Chr9:215040 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.*845T>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000270940] Chr9:465064 [GRCh38]
Chr9:465064 [GRCh37]
Chr9:9p24.3		 benign|uncertain significance
NM_203447.4(DOCK8):c.3234+15del deletion Autosomal recessive hyper-IgE syndrome [RCV003761957]|Hyper-IgE syndrome [RCV000306049]|not provided [RCV001701002]|not specified [RCV000484654] Chr9:399268 [GRCh38]
Chr9:399268 [GRCh37]
Chr9:9p24.3		 benign|likely benign|no classifications from unflagged records
NM_203447.4(DOCK8):c.1391C>T (p.Ser464Phe) single nucleotide variant Hyper-IgE syndrome [RCV000306243] Chr9:336687 [GRCh38]
Chr9:336687 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761949]|Combined immunodeficiency due to DOCK8 deficiency [RCV001085149]|DOCK8-related disorder [RCV003902435]|Intellectual disability [RCV001251743]|not provided [RCV000762543] Chr9:312088 [GRCh38]
Chr9:312088 [GRCh37]
Chr9:9p24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.72A>G (p.Ile24Met) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000350034] Chr9:271645 [GRCh38]
Chr9:271645 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.550G>A (p.Val184Met) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761948]|Combined immunodeficiency due to DOCK8 deficiency [RCV000693678]|not provided [RCV002244840] Chr9:311975 [GRCh38]
Chr9:311975 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.3220C>A (p.His1074Asn) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595945]|Combined immunodeficiency due to DOCK8 deficiency [RCV001085892]|Intellectual disability [RCV001251749]|not provided [RCV000893429] Chr9:399245 [GRCh38]
Chr9:399245 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.3813A>G (p.Lys1271=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595948]|Combined immunodeficiency due to DOCK8 deficiency [RCV000541157]|not specified [RCV000432239] Chr9:418180 [GRCh38]
Chr9:418180 [GRCh37]
Chr9:9p24.3		 benign|likely benign|uncertain significance
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761945]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645163]|DOCK8-related disorder [RCV003922651]|Intellectual disability [RCV001251744]|not provided [RCV001531727]|not specified [RCV001821120] Chr9:289557 [GRCh38]
Chr9:289557 [GRCh37]
Chr9:9p24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.*847A>G single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000328384] Chr9:465066 [GRCh38]
Chr9:465066 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5296C>T (p.Arg1766Trp) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000547350] Chr9:441358 [GRCh38]
Chr9:441358 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5467C>T (p.Pro1823Ser) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595953]|Hyper-IgE syndrome [RCV000329927] Chr9:441986 [GRCh38]
Chr9:441986 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3067A>G (p.Ile1023Val) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761955]|Combined immunodeficiency due to DOCK8 deficiency [RCV000551723]|Inborn genetic diseases [RCV002523796]|not provided [RCV003319349] Chr9:396881 [GRCh38]
Chr9:396881 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.-69T>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000331854]|not provided [RCV000833747] Chr9:214908 [GRCh38]
Chr9:214908 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595938]|Combined immunodeficiency due to DOCK8 deficiency [RCV000768199]|not provided [RCV000762542] Chr9:304670 [GRCh38]
Chr9:304670 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.2740G>A (p.Ala914Thr) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000817313]|not specified [RCV003155174] Chr9:382647 [GRCh38]
Chr9:382647 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1623C>G (p.His541Gln) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000822154]|not provided [RCV001770289]|not specified [RCV001821122] Chr9:340265 [GRCh38]
Chr9:340265 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.36C>A (p.Phe12Leu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761943]|Combined immunodeficiency due to DOCK8 deficiency [RCV000332616] Chr9:215012 [GRCh38]
Chr9:215012 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.2428G>A (p.Ala810Thr) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000332366] Chr9:377199 [GRCh38]
Chr9:377199 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3606T>C (p.Cys1202=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595947]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645159]|not provided [RCV001718797] Chr9:414857 [GRCh38]
Chr9:414857 [GRCh37]
Chr9:9p24.3		 benign|likely benign|uncertain significance
NM_203447.4(DOCK8):c.*757T>G single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000381727] Chr9:464976 [GRCh38]
Chr9:464976 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595954]|Combined immunodeficiency due to DOCK8 deficiency [RCV000820827]|not provided [RCV001577068] Chr9:449794 [GRCh38]
Chr9:449794 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*99G>A single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000404685] Chr9:464318 [GRCh38]
Chr9:464318 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*701G>A single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000334208] Chr9:464920 [GRCh38]
Chr9:464920 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.536C>T (p.Pro179Leu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595939]|Combined immunodeficiency due to DOCK8 deficiency [RCV000334913] Chr9:311961 [GRCh38]
Chr9:311961 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3441C>T (p.Phe1147=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761960]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645168]|not provided [RCV001613237] Chr9:406980 [GRCh38]
Chr9:406980 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.3134C>T (p.Ala1045Val) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001064048] Chr9:399159 [GRCh38]
Chr9:399159 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5223+4A>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595951]|Combined immunodeficiency due to DOCK8 deficiency [RCV001088227]|not provided [RCV000479759] Chr9:439392 [GRCh38]
Chr9:439392 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.5585A>G (p.Tyr1862Cys) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000294865] Chr9:446374 [GRCh38]
Chr9:446374 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3193C>T (p.Arg1065Trp) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001046697]|not provided [RCV004696154] Chr9:399218 [GRCh38]
Chr9:399218 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3254A>G (p.Asn1085Ser) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000358593]|Inborn genetic diseases [RCV004022120]|not specified [RCV003987524] Chr9:404937 [GRCh38]
Chr9:404937 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*867C>T single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000385012] Chr9:465086 [GRCh38]
Chr9:465086 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.686C>A (p.Ala229Asp) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595940]|Combined immunodeficiency due to DOCK8 deficiency [RCV000407448] Chr9:312111 [GRCh38]
Chr9:312111 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3519C>T (p.Ala1173=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761961]|Combined immunodeficiency due to DOCK8 deficiency [RCV000262712]|not provided [RCV003430972] Chr9:407058 [GRCh38]
Chr9:407058 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.*258T>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000262817] Chr9:464477 [GRCh38]
Chr9:464477 [GRCh37]
Chr9:9p24.3		 benign|uncertain significance
NM_203447.4(DOCK8):c.828-7A>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595941]|DOCK8-related disorder [RCV003957869]|Hyper-IgE syndrome [RCV000336278]|not provided [RCV003430969]|not specified [RCV001821121] Chr9:325664 [GRCh38]
Chr9:325664 [GRCh37]
Chr9:9p24.3		 benign|likely benign|uncertain significance
NM_203447.4(DOCK8):c.-58C>T single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000385902] Chr9:214919 [GRCh38]
Chr9:214919 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2438C>T (p.Thr813Ile) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595944]|Combined immunodeficiency due to DOCK8 deficiency [RCV000386923] Chr9:377209 [GRCh38]
Chr9:377209 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.528+13A>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761947]|Combined immunodeficiency due to DOCK8 deficiency [RCV000279801]|not provided [RCV001536233]|not specified [RCV000603982] Chr9:304717 [GRCh38]
Chr9:304717 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.277G>T (p.Val93Leu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761944]|Combined immunodeficiency due to DOCK8 deficiency [RCV000363066] Chr9:286581 [GRCh38]
Chr9:286581 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2937C>G (p.Val979=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000264296] Chr9:390533 [GRCh38]
Chr9:390533 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5139C>T (p.Asp1713=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595950]|Combined immunodeficiency due to DOCK8 deficiency [RCV000264591] Chr9:439304 [GRCh38]
Chr9:439304 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.447A>G (p.Gly149=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000264671] Chr9:304623 [GRCh38]
Chr9:304623 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.626G>A (p.Arg209Gln) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000687176]|not provided [RCV001770288] Chr9:312051 [GRCh38]
Chr9:312051 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*112T>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000298199]|not provided [RCV001672731] Chr9:464331 [GRCh38]
Chr9:464331 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.5266A>C (p.Ile1756Leu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595952]|Combined immunodeficiency due to DOCK8 deficiency [RCV000316443]|Inborn genetic diseases [RCV003258801] Chr9:441328 [GRCh38]
Chr9:441328 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000697622]|Intellectual disability [RCV001251748]|not provided [RCV002508933] Chr9:377046 [GRCh38]
Chr9:377046 [GRCh37]
Chr9:9p24.3		 uncertain significance|not provided
NM_203447.4(DOCK8):c.2971-14A>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761954]|Combined immunodeficiency due to DOCK8 deficiency [RCV000281923]|not provided [RCV001643111]|not specified [RCV000825669] Chr9:396771 [GRCh38]
Chr9:396771 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.4148C>G (p.Ala1383Gly) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000391173] Chr9:421073 [GRCh38]
Chr9:421073 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3270T>C (p.Ile1090=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761958]|Combined immunodeficiency due to DOCK8 deficiency [RCV000266200]|DOCK8-related disorder [RCV003950303] Chr9:404953 [GRCh38]
Chr9:404953 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.4024-4C>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595949]|Combined immunodeficiency due to DOCK8 deficiency [RCV000905669]|not provided [RCV001573987]|not specified [RCV000601801] Chr9:420945 [GRCh38]
Chr9:420945 [GRCh37]
Chr9:9p24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761959]|Combined immunodeficiency due to DOCK8 deficiency [RCV000526922]|not provided [RCV001723965]|not specified [RCV003987525] Chr9:404995 [GRCh38]
Chr9:404995 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.6201A>G (p.Glu2067=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761963]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645156]|not provided [RCV001702633]|not specified [RCV000434238] Chr9:463649 [GRCh38]
Chr9:463649 [GRCh37]
Chr9:9p24.3		 benign|likely benign|uncertain significance
NM_203447.4(DOCK8):c.-100T>A single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000272140] Chr9:214877 [GRCh38]
Chr9:214877 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5261del (p.Leu1754fs) deletion Autosomal recessive hyper-IgE syndrome [RCV003761885]|not provided [RCV000314249] Chr9:441323 [GRCh38]
Chr9:441323 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.2605+14G>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000273137] Chr9:379949 [GRCh38]
Chr9:379949 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2606-1G>A single nucleotide variant not provided [RCV000328463] Chr9:382512 [GRCh38]
Chr9:382512 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.*603T>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000275751] Chr9:464822 [GRCh38]
Chr9:464822 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2749G>A (p.Glu917Lys) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000645145]|Intellectual disability [RCV001251747]|not provided [RCV000262778] Chr9:382656 [GRCh38]
Chr9:382656 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3234+15dup duplication Autosomal recessive hyper-IgE syndrome [RCV003595946]|Hyper-IgE syndrome [RCV000267280] Chr9:399267..399268 [GRCh38]
Chr9:399267..399268 [GRCh37]
Chr9:9p24.3		 benign|uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823) copy number loss Chromosome 9p deletion syndrome [RCV002280770] Chr9:203861..7959823 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
NM_203447.4(DOCK8):c.1979C>A (p.Ala660Asp) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596004]|Combined immunodeficiency due to DOCK8 deficiency [RCV001167344]|not provided [RCV000489600] Chr9:371538 [GRCh38]
Chr9:371538 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.3614C>G (p.Pro1205Arg) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596013]|not provided [RCV000522427] Chr9:414865 [GRCh38]
Chr9:414865 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3573C>G (p.Ser1191Arg) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596012]|not provided [RCV000520282] Chr9:414824 [GRCh38]
Chr9:414824 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2605+100_2605+160del deletion not provided [RCV001547677] Chr9:380031..380091 [GRCh38]
Chr9:380031..380091 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.5155G>A (p.Ala1719Thr) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762784]|Combined immunodeficiency due to DOCK8 deficiency [RCV000531138]|not provided [RCV001797102] Chr9:439320 [GRCh38]
Chr9:439320 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.3790G>T (p.Ala1264Ser) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000290973] Chr9:418157 [GRCh38]
Chr9:418157 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.3(DOCK8):c.-113C>T single nucleotide variant Hyper-IgE syndrome [RCV000306874]|not provided [RCV000833524]|not specified [RCV003392222] Chr9:214864 [GRCh38]
Chr9:214864 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1649G>A (p.Arg550Gln) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003766107]|Combined immunodeficiency due to DOCK8 deficiency [RCV000330623] Chr9:340291 [GRCh38]
Chr9:340291 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4497G>A (p.Glu1499=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761962]|Combined immunodeficiency due to DOCK8 deficiency [RCV000364099] Chr9:429725 [GRCh38]
Chr9:429725 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.-105G>T single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000366726] Chr9:214872 [GRCh38]
Chr9:214872 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2527G>A (p.Gly843Arg) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000386308] Chr9:379857 [GRCh38]
Chr9:379857 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*407C>T single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000367948] Chr9:464626 [GRCh38]
Chr9:464626 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.34T>G (p.Phe12Val) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000296274] Chr9:215010 [GRCh38]
Chr9:215010 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.218A>G (p.Asn73Ser) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003766106]|Combined immunodeficiency due to DOCK8 deficiency [RCV000308403] Chr9:286522 [GRCh38]
Chr9:286522 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*150A>T single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000355359] Chr9:464369 [GRCh38]
Chr9:464369 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*366C>T single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000311032] Chr9:464585 [GRCh38]
Chr9:464585 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.6068+11A>C single nucleotide variant Hyper-IgE syndrome [RCV000396058] Chr9:452128 [GRCh38]
Chr9:452128 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5595C>G (p.Ile1865Met) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001169511]|Inborn genetic diseases [RCV004023563]|not provided [RCV000519973] Chr9:446384 [GRCh38]
Chr9:446384 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.656C>T (p.Ala219Val) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000548888]|Inborn genetic diseases [RCV004024066] Chr9:312081 [GRCh38]
Chr9:312081 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5580+3A>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762763]|not provided [RCV000520295] Chr9:443519 [GRCh38]
Chr9:443519 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.405-8C>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596042]|not specified [RCV000578821] Chr9:304573 [GRCh38]
Chr9:304573 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.378C>G (p.Ile126Met) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596052]|Combined immunodeficiency due to DOCK8 deficiency [RCV000983932]|not specified [RCV000593065] Chr9:289555 [GRCh38]
Chr9:289555 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.3612A>T (p.Lys1204Asn) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596584]|Inborn genetic diseases [RCV002537221]|not provided [RCV001508263] Chr9:414863 [GRCh38]
Chr9:414863 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.6120G>A (p.Arg2040=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595702]|Combined immunodeficiency due to DOCK8 deficiency [RCV001169745] Chr9:463568 [GRCh38]
Chr9:463568 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.6186G>A (p.Glu2062=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001169746] Chr9:463634 [GRCh38]
Chr9:463634 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761965]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645180]|DOCK8-related disorder [RCV003922668]|not provided [RCV001507743]|not specified [RCV000414337] Chr9:420579 [GRCh38]
Chr9:420579..420580 [GRCh38]
Chr9:420579 [GRCh37]
Chr9:420579..420580 [GRCh37]
Chr9:9p24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.5962-18_5962-9del deletion Autosomal recessive hyper-IgE syndrome [RCV003761396]|not provided [RCV001546044] Chr9:451978..451987 [GRCh38]
Chr9:451978..451987 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3785C>T (p.Ala1262Val) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000806241]|not provided [RCV004693318] Chr9:418152 [GRCh38]
Chr9:418152 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1619C>G (p.Pro540Arg) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001169664] Chr9:340261 [GRCh38]
Chr9:340261 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.343G>C (p.Asp115His) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596036] Chr9:289520 [GRCh38]
Chr9:289520 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NC_000009.12:g.(?_304561)_(464239_?)del deletion Combined immunodeficiency due to DOCK8 deficiency [RCV000541699] Chr9:304561..464239 [GRCh38]
Chr9:304561..464239 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761966]|not provided [RCV000412782] Chr9:340290 [GRCh38]
Chr9:340290 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic
NM_203447.4(DOCK8):c.4473+285T>G single nucleotide variant not provided [RCV001571043] Chr9:428781 [GRCh38]
Chr9:428781 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.431_432delinsTT (p.Gly144Val) indel Combined immunodeficiency due to DOCK8 deficiency [RCV001059348]|not specified [RCV000413252] Chr9:304607..304608 [GRCh38]
Chr9:304607..304608 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.12:g.(?_286441)_(289601_?)del deletion Combined immunodeficiency due to DOCK8 deficiency [RCV000553243] Chr9:286441..289601 [GRCh38]
Chr9:286441..289601 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic
GRCh37/hg19 9p24.3(chr9:118241-239426)x1 copy number loss See cases [RCV000449094] Chr9:118241..239426 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3(chr9:367918-639010)x1 copy number loss See cases [RCV000449253] Chr9:367918..639010 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-452926)x3 copy number gain See cases [RCV000446075] Chr9:203861..452926 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3(chr9:404753-407272)x1 copy number loss See cases [RCV000447686] Chr9:404753..407272 [GRCh37]
Chr9:9p24.3		 likely pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3(chr9:304377-332552)x1 copy number loss See cases [RCV000446672] Chr9:304377..332552 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-378086)x3 copy number gain See cases [RCV000447570] Chr9:203861..378086 [GRCh37]
Chr9:9p24.3		 pathogenic
GRCh37/hg19 9p24.3(chr9:379742-379899)x1 copy number loss See cases [RCV000446923] Chr9:379742..379899 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)x1 copy number loss See cases [RCV000447358] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3(chr9:414668-703634)x3 copy number gain See cases [RCV000446461] Chr9:414668..703634 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3(chr9:203861-258973)x1 copy number loss See cases [RCV000446068] Chr9:203861..258973 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
NM_203447.4(DOCK8):c.3603C>G (p.Arg1201=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595988]|not provided [RCV000417513] Chr9:414854 [GRCh38]
Chr9:414854 [GRCh37]
Chr9:9p24.3		 benign|uncertain significance
NM_203447.4(DOCK8):c.4491= (p.Phe1497=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761992]|not specified [RCV000420604] Chr9:429719 [GRCh38]
Chr9:429719 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.267C>T (p.Asp89=) single nucleotide variant not specified [RCV000430893] Chr9:286571 [GRCh38]
Chr9:286571 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.528+7C>A single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761971]|not specified [RCV000437668] Chr9:304711 [GRCh38]
Chr9:304711 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1422+17C>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595962]|not specified [RCV000441360] Chr9:336735 [GRCh38]
Chr9:336735 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.1839A>G (p.Glu613=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595987]|DOCK8-related disorder [RCV003970242]|not specified [RCV000441397] Chr9:370271 [GRCh38]
Chr9:370271 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
NM_203447.4(DOCK8):c.1356G>A (p.Leu452=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761972]|not specified [RCV000420873] Chr9:336652 [GRCh38]
Chr9:336652 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1516+16C>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761973]|not specified [RCV000431123] Chr9:339115 [GRCh38]
Chr9:339115 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.333-12C>G single nucleotide variant not specified [RCV000437977] Chr9:289498 [GRCh38]
Chr9:289498 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.393C>T (p.Ile131=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761987]|not specified [RCV000437983] Chr9:289570 [GRCh38]
Chr9:289570 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1004C>T (p.Ser335Leu) single nucleotide variant not provided [RCV000424073] Chr9:328131 [GRCh38]
Chr9:328131 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1587C>G (p.Pro529=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762727]|Combined immunodeficiency due to DOCK8 deficiency [RCV000543076]|not provided [RCV001704508] Chr9:340229 [GRCh38]
Chr9:340229 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.2970+16G>A single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595981]|not specified [RCV000418053] Chr9:390582 [GRCh38]
Chr9:390582 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761974]|Combined immunodeficiency due to DOCK8 deficiency [RCV000530757]|DOCK8-related disorder [RCV003970112]|not provided [RCV001705568]|not specified [RCV001821159] Chr9:340224 [GRCh38]
Chr9:340224 [GRCh37]
Chr9:9p24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.4003G>T (p.Val1335Leu) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001210360]|Inborn genetic diseases [RCV002525474]|not provided [RCV000418411] Chr9:420563 [GRCh38]
Chr9:420563 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3234+15C>A single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761981]|not specified [RCV000421134] Chr9:399274 [GRCh38]
Chr9:399274 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.5355+6C>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761989]|Combined immunodeficiency due to DOCK8 deficiency [RCV000964303]|not specified [RCV000424588] Chr9:441423 [GRCh38]
Chr9:441423 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.689G>A (p.Arg230Gln) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762734]|not provided [RCV000435218] Chr9:312114 [GRCh38]
Chr9:312114 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3636C>T (p.Ala1212=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595964]|not specified [RCV000442299] Chr9:414887 [GRCh38]
Chr9:414887 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1528C>A (p.Leu510Met) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000699772]|not provided [RCV000418267] Chr9:340170 [GRCh38]
Chr9:340170 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2440+12C>G single nucleotide variant not specified [RCV000428409] Chr9:377223 [GRCh38]
Chr9:377223 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2427C>T (p.Ile809=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595978]|not specified [RCV000418909] Chr9:377198 [GRCh38]
Chr9:377198 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1881T>C (p.Phe627=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595958]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645162]|not provided [RCV000421559] Chr9:371440 [GRCh38]
Chr9:371440 [GRCh37]
Chr9:9p24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.1017G>A (p.Pro339=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595960]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645179]|not provided [RCV001720005]|not specified [RCV001821163] Chr9:328144 [GRCh38]
Chr9:328144 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.963T>A (p.Pro321=) single nucleotide variant not specified [RCV000432015] Chr9:328090 [GRCh38]
Chr9:328090 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.12G>T (p.Leu4=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761994]|not specified [RCV000442764] Chr9:214988 [GRCh38]
Chr9:214988 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.870C>G (p.Leu290=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595974]|not provided [RCV004546492]|not specified [RCV000439269] Chr9:325713 [GRCh38]
Chr9:325713 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.332+9T>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761984]|DOCK8-related disorder [RCV003932587]|not specified [RCV000439358] Chr9:286645 [GRCh38]
Chr9:286645 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.4346C>T (p.Ser1449Leu) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000691493]|DOCK8-related disorder [RCV003392247]|not provided [RCV001704338] Chr9:428369 [GRCh38]
Chr9:428369 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.2971-6C>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595975]|Inborn genetic diseases [RCV004619287]|not provided [RCV004546493]|not specified [RCV000422081] Chr9:396779 [GRCh38]
Chr9:396779 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.6138C>G (p.Leu2046=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761990]|DOCK8-related disorder [RCV003912682]|not specified [RCV000432400] Chr9:463586 [GRCh38]
Chr9:463586 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595959]|Combined immunodeficiency due to DOCK8 deficiency [RCV001087724]|DOCK8-related disorder [RCV003912613]|Intellectual disability [RCV001251750]|not provided [RCV000439452] Chr9:420548 [GRCh38]
Chr9:420548 [GRCh37]
Chr9:9p24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.2346C>T (p.Ser782=) single nucleotide variant not specified [RCV000425705] Chr9:377117 [GRCh38]
Chr9:377117 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2634G>A (p.Arg878=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595976]|not specified [RCV000429205] Chr9:382541 [GRCh38]
Chr9:382541 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.156+1383T>C single nucleotide variant not specified [RCV000419747] Chr9:273112 [GRCh38]
Chr9:273112 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2971-1G>A single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595961]|not provided [RCV000431039] Chr9:396784 [GRCh38]
Chr9:396784 [GRCh37]
Chr9:9p24.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
NM_203447.4(DOCK8):c.477G>A (p.Pro159=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595979]|not specified [RCV000440600] Chr9:304653 [GRCh38]
Chr9:304653 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.895-9C>T single nucleotide variant DOCK8-related disorder [RCV003932672]|not specified [RCV000444240] Chr9:328013 [GRCh38]
Chr9:328013 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1863T>C (p.His621=) single nucleotide variant not specified [RCV000420253] Chr9:370295 [GRCh38]
Chr9:370295 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1044+12C>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595970]|not specified [RCV000426792] Chr9:328183 [GRCh38]
Chr9:328183 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.5781C>T (p.Tyr1927=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595989]|DOCK8-related disorder [RCV003912784]|not specified [RCV000423430] Chr9:446570 [GRCh38]
Chr9:446570 [GRCh37]
Chr9:9p24.3		 benign|likely benign
GRCh37/hg19 9p24.3(chr9:327733-739194)x3 copy number gain See cases [RCV000448002] Chr9:327733..739194 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3(chr9:453133-516638)x1 copy number loss See cases [RCV000448485] Chr9:453133..516638 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:156512-215717)x1 copy number loss See cases [RCV000448491] Chr9:156512..215717 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3(chr9:304377-639010)x3 copy number gain See cases [RCV000448505] Chr9:304377..639010 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3-24.2(chr9:213161-3497920)x1 copy number loss See cases [RCV000448791] Chr9:213161..3497920 [GRCh37]
Chr9:9p24.3-24.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 copy number loss See cases [RCV000448147] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3(chr9:214048-239426)x1 copy number loss See cases [RCV000448165] Chr9:214048..239426 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 copy number loss See cases [RCV000448304] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3(chr9:203861-268590)x1 copy number loss See cases [RCV000448085] Chr9:203861..268590 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:433653-465893)x1 copy number loss See cases [RCV000448364] Chr9:433653..465893 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1517-11TC[2] microsatellite not specified [RCV000479197] Chr9:340148..340149 [GRCh38]
Chr9:340148..340149 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762746]|Combined immunodeficiency due to DOCK8 deficiency [RCV001086901]|DOCK8-related disorder [RCV003925401]|not provided [RCV000479850]|not specified [RCV001821389] Chr9:406999 [GRCh38]
Chr9:406999 [GRCh37]
Chr9:9p24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.5079+7dup duplication Autosomal recessive hyper-IgE syndrome [RCV003595996]|not specified [RCV000480377] Chr9:434981..434982 [GRCh38]
Chr9:434981..434982 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3423G>C (p.Gln1141His) single nucleotide variant not provided [RCV000485188] Chr9:406962 [GRCh38]
Chr9:406962 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.918_919insTTGAACT (p.Asp310fs) insertion Inborn genetic diseases [RCV000623214]|not provided [RCV000485084] Chr9:328045..328046 [GRCh38]
Chr9:328045..328046 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.882dup (p.Glu295fs) duplication Combined immunodeficiency due to DOCK8 deficiency [RCV000985049]|not provided [RCV000485382] Chr9:325722..325723 [GRCh38]
Chr9:325722..325723 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_203447.4(DOCK8):c.2440+13_2440+22del deletion Autosomal recessive hyper-IgE syndrome [RCV003595994]|not specified [RCV000482137] Chr9:377222..377231 [GRCh38]
Chr9:377222..377231 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
NM_203447.4(DOCK8):c.3234+8del deletion Autosomal recessive hyper-IgE syndrome [RCV003762735]|not provided [RCV001704552]|not specified [RCV000455993] Chr9:399267 [GRCh38]
Chr9:399267 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.5612A>G (p.Tyr1871Cys) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762744]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645152]|not provided [RCV000478416] Chr9:446401 [GRCh38]
Chr9:446401 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1475A>G (p.Lys492Arg) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001865494]|not provided [RCV000478686] Chr9:339058 [GRCh38]
Chr9:339058 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:460071-516638)x3 copy number gain See cases [RCV000510368] Chr9:460071..516638 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:309052-518538)x3 copy number gain See cases [RCV000510591] Chr9:309052..518538 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-217826)x1 copy number loss See cases [RCV000510694] Chr9:203861..217826 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2971-5C>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596009]|Combined immunodeficiency due to DOCK8 deficiency [RCV000509471] Chr9:396780 [GRCh38]
Chr9:396780 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh37/hg19 9p24.3(chr9:203861-498236)x4 copy number gain See cases [RCV000512021] Chr9:203861..498236 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3(chr9:402279-516638)x3 copy number gain See cases [RCV000511976] Chr9:402279..516638 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3(chr9:403284-660290)x3 copy number gain See cases [RCV000511652] Chr9:403284..660290 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3(chr9:314208-518499)x3 copy number gain See cases [RCV000511908] Chr9:314208..518499 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.52A>G (p.Arg18Gly) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762755]|Inborn genetic diseases [RCV000624829]|not provided [RCV000494317] Chr9:215028 [GRCh38]
Chr9:215028 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3(chr9:314208-517446)x3 copy number gain See cases [RCV000511931] Chr9:314208..517446 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3(chr9:203861-1677474)x3 copy number gain See cases [RCV000511819] Chr9:203861..1677474 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:314208-518103)x3 copy number gain See cases [RCV000511783] Chr9:314208..518103 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3(chr9:399333-740132)x3 copy number gain See cases [RCV000510800] Chr9:399333..740132 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:249920-540091)x3 copy number gain See cases [RCV000511043] Chr9:249920..540091 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-452926)x1 copy number loss See cases [RCV000511112] Chr9:203861..452926 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:388166-512005)x3 copy number gain See cases [RCV000511117] Chr9:388166..512005 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-584635)x3 copy number gain See cases [RCV000511136] Chr9:203861..584635 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-539781)x1 copy number loss See cases [RCV000510930] Chr9:203861..539781 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2310G>A (p.Glu770=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596035]|not provided [RCV001675924]|not specified [RCV003151096] Chr9:377081 [GRCh38]
Chr9:377081 [GRCh37]
Chr9:9p24.3		 benign|likely benign
GRCh37/hg19 9p24.3(chr9:407226-566020)x3 copy number gain See cases [RCV000510903] Chr9:407226..566020 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3(chr9:203861-1672167)x3 copy number gain See cases [RCV000511277] Chr9:203861..1672167 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 copy number gain See cases [RCV000510843] Chr9:203861..10700288 [GRCh37]
Chr9:9p24.3-23		 likely pathogenic
GRCh37/hg19 9p24.3(chr9:269430-694567)x3 copy number gain See cases [RCV000510953] Chr9:269430..694567 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3216C>G (p.Ile1072Met) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000768200] Chr9:399241 [GRCh38]
Chr9:399241 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3217A>G (p.Arg1073Gly) single nucleotide variant Inborn genetic diseases [RCV003301286] Chr9:399242 [GRCh38]
Chr9:399242 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1238A>T (p.Asn413Ile) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000645150] Chr9:334337 [GRCh38]
Chr9:334337 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2779-2A>C single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596099] Chr9:386329 [GRCh38]
Chr9:386329 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_203447.4(DOCK8):c.280G>C (p.Val94Leu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596100] Chr9:286584 [GRCh38]
Chr9:286584 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1788T>C (p.Asn596=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596102] Chr9:368126 [GRCh38]
Chr9:368126 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.5010G>A (p.Ala1670=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596106]|not provided [RCV003424223]|not specified [RCV001816602] Chr9:434906 [GRCh38]
Chr9:434906 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.2511G>A (p.Leu837=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596105] Chr9:379841 [GRCh38]
Chr9:379841 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4473+9G>A single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596104] Chr9:428505 [GRCh38]
Chr9:428505 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.857C>T (p.Ala286Val) single nucleotide variant Inborn genetic diseases [RCV003299604] Chr9:325700 [GRCh38]
Chr9:325700 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
NM_203447.4(DOCK8):c.358G>T (p.Asp120Tyr) single nucleotide variant Inborn genetic diseases [RCV003304222] Chr9:289535 [GRCh38]
Chr9:289535 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4241+16A>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762815]|not specified [RCV000607275] Chr9:422151 [GRCh38]
Chr9:422151 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4627-3C>T single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001860356]|not specified [RCV000602249] Chr9:432163 [GRCh38]
Chr9:432163 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.4162C>T (p.Arg1388Ter) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596077]|not provided [RCV000627240] Chr9:422056 [GRCh38]
Chr9:422056 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.3234+15_3234+16insCA insertion Autosomal recessive hyper-IgE syndrome [RCV003762816]|not specified [RCV000607929] Chr9:399274..399275 [GRCh38]
Chr9:399274..399275 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4093G>A (p.Glu1365Lys) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596096] Chr9:421018 [GRCh38]
Chr9:421018 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.6068+9G>A single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000645164] Chr9:452126 [GRCh38]
Chr9:452126 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.5058C>T (p.Pro1686=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596103]|DOCK8-related disorder [RCV003965369] Chr9:434954 [GRCh38]
Chr9:434954 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.5962-16_5962-8del deletion Autosomal recessive hyper-IgE syndrome [RCV003762851]|not provided [RCV003432686] Chr9:451995..452003 [GRCh38]
Chr9:451995..452003 [GRCh37]
Chr9:9p24.3		 likely benign
NC_000009.12:g.(?_214957)_(215049_?)del deletion Combined immunodeficiency due to DOCK8 deficiency [RCV000540625] Chr9:214957..215049 [GRCh38]
Chr9:214957..215049 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.5962-38_5962-17del deletion Autosomal recessive hyper-IgE syndrome [RCV003762758]|not provided [RCV000513841] Chr9:451972..451993 [GRCh38]
Chr9:451972..451993 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2971-4G>A single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596055]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645160]|DOCK8-related disorder [RCV003927955]|not provided [RCV001704701] Chr9:396781 [GRCh38]
Chr9:396781 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.741+16T>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596068]|not specified [RCV000607004] Chr9:312182 [GRCh38]
Chr9:312182 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2874+8AG[2] microsatellite Autosomal recessive hyper-IgE syndrome [RCV003767492]|not specified [RCV000615479] Chr9:386434..386435 [GRCh38]
Chr9:386434..386435 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3841-11C>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596062]|Combined immunodeficiency due to DOCK8 deficiency [RCV001334765]|not provided [RCV001704754] Chr9:420390 [GRCh38]
Chr9:420390 [GRCh37]
Chr9:9p24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.3234+12C>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762827]|not specified [RCV000616024] Chr9:399271 [GRCh38]
Chr9:399271 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1045-17A>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596056]|not specified [RCV000610417] Chr9:332381 [GRCh38]
Chr9:332381 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4998G>C (p.Val1666=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596054]|not provided [RCV004546530]|not specified [RCV000610432] Chr9:434894 [GRCh38]
Chr9:434894 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3701-17C>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762818]|not provided [RCV001729658]|not specified [RCV000613202] Chr9:418051 [GRCh38]
Chr9:418051 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.5481T>C (p.His1827=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596072]|Combined immunodeficiency due to DOCK8 deficiency [RCV000817998]|DOCK8-related disorder [RCV003945552]|not specified [RCV000610688] Chr9:442000 [GRCh38]
Chr9:442000 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.679G>A (p.Glu227Lys) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762831]|Combined immunodeficiency due to DOCK8 deficiency [RCV000967383]|DOCK8-related disorder [RCV003980183]|not specified [RCV000616677] Chr9:312104 [GRCh38]
Chr9:312104 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.-12C>T single nucleotide variant not specified [RCV000616754] Chr9:214965 [GRCh38]
Chr9:214965 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.986C>T (p.Ala329Val) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762841]|Combined immunodeficiency due to DOCK8 deficiency [RCV000645170]|Inborn genetic diseases [RCV000623051]|not provided [RCV001571318] Chr9:328113 [GRCh38]
Chr9:328113 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.6068+18T>C single nucleotide variant not specified [RCV000614399] Chr9:452135 [GRCh38]
Chr9:452135 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.580G>A (p.Val194Ile) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762785]|not provided [RCV001702510]|not specified [RCV000612513] Chr9:312005 [GRCh38]
Chr9:312005 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4158C>T (p.Asn1386=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596063]|Combined immunodeficiency due to DOCK8 deficiency [RCV000910752]|not provided [RCV003431147]|not specified [RCV000609367] Chr9:422052 [GRCh38]
Chr9:422052 [GRCh37]
Chr9:9p24.3		 benign|likely benign
GRCh37/hg19 9p24.3(chr9:203861-519592)x3 copy number gain See cases [RCV000512260] Chr9:203861..519592 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-5081516)x1 copy number loss See cases [RCV000512311] Chr9:203861..5081516 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
NM_203447.4(DOCK8):c.5491-4C>T single nucleotide variant not provided [RCV000512710] Chr9:443423 [GRCh38]
Chr9:443423 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
NM_203447.4(DOCK8):c.2882A>T (p.His961Leu) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000645141] Chr9:390478 [GRCh38]
Chr9:390478 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2653C>T (p.Arg885Cys) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000645142] Chr9:382560 [GRCh38]
Chr9:382560 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3031C>T (p.Arg1011Cys) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000645144] Chr9:396845 [GRCh38]
Chr9:396845 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.623A>G (p.Lys208Arg) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000645146] Chr9:312048 [GRCh38]
Chr9:312048 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1286-5T>A single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000645147] Chr9:336577 [GRCh38]
Chr9:336577 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1619C>T (p.Pro540Leu) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000645148] Chr9:340261 [GRCh38]
Chr9:340261 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.528G>C (p.Gln176His) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596097] Chr9:304704 [GRCh38]
Chr9:304704 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.605G>A (p.Arg202His) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596098]|Inborn genetic diseases [RCV003278970]|not provided [RCV004692020] Chr9:312030 [GRCh38]
Chr9:312030 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3756C>T (p.Ala1252=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596101]|DOCK8-related disorder [RCV003965368] Chr9:418123 [GRCh38]
Chr9:418123 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2562C>T (p.Tyr854=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762850] Chr9:379892 [GRCh38]
Chr9:379892 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.5184G>C (p.Leu1728=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596107] Chr9:439349 [GRCh38]
Chr9:439349 [GRCh37]
Chr9:9p24.3		 likely benign
NC_000009.11:g.(?_271607)_(328191_?)dup duplication Autosomal recessive hyper-IgE syndrome [RCV004563357] Chr9:271607..328191 [GRCh38]
Chr9:271607..328191 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NC_000009.11:g.(?_214957)_(271749_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV000645188] Chr9:214957..271749 [GRCh38]
Chr9:214957..271749 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.12:g.(?_286441)_(464239_?)del deletion Combined immunodeficiency due to DOCK8 deficiency [RCV000645187] Chr9:286441..464239 [GRCh38]
Chr9:286441..464239 [GRCh37]
Chr9:9p24.3		 pathogenic
NC_000009.11:g.(?_214957)_(289601_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV000645186] Chr9:214957..289601 [GRCh38]
Chr9:214957..289601 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.11:g.(?_325651)_(340341_?)dup duplication Autosomal recessive hyper-IgE syndrome [RCV004563356] Chr9:325651..340341 [GRCh38]
Chr9:325651..340341 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.708C>T (p.Ala236=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596108] Chr9:312133 [GRCh38]
Chr9:312133 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1798-10T>C single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762813]|not specified [RCV000601060] Chr9:370220 [GRCh38]
Chr9:370220 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3(chr9:273651-665516)x3 copy number gain See cases [RCV000512572] Chr9:273651..665516 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4387_4395del (p.Arg1463_Leu1465del) deletion not provided [RCV000513402] Chr9:428407..428415 [GRCh38]
Chr9:428407..428415 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5132C>A (p.Ser1711Ter) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001824146]|not provided [RCV000627241] Chr9:439297 [GRCh38]
Chr9:439297 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.3263C>T (p.Thr1088Met) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596070]|Inborn genetic diseases [RCV002531618]|not provided [RCV000733045]|not specified [RCV000601144] Chr9:404946 [GRCh38]
Chr9:404946 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.4129del (p.Glu1377fs) deletion not provided [RCV000627479] Chr9:421051 [GRCh38]
Chr9:421051 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_203447.4(DOCK8):c.197del (p.Gly66fs) deletion not provided [RCV000657522] Chr9:286500 [GRCh38]
Chr9:286500 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_203447.4(DOCK8):c.1840G>C (p.Val614Leu) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000698015] Chr9:370272 [GRCh38]
Chr9:370272 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.6188G>A (p.Arg2063Gln) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000698029]|not provided [RCV004692154] Chr9:463636 [GRCh38]
Chr9:463636 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:266045-434797)x1 copy number loss not provided [RCV000659205] Chr9:266045..434797 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_203447.4(DOCK8):c.1783A>G (p.Ser595Gly) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596492] Chr9:368121 [GRCh38]
Chr9:368121 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1152A>T (p.Lys384Asn) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000697847] Chr9:334251 [GRCh38]
Chr9:334251 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2781C>G (p.Ile927Met) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596494] Chr9:386333 [GRCh38]
Chr9:386333 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:222579-355137)x3 copy number gain not provided [RCV000683081] Chr9:222579..355137 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-378086)x1 copy number loss not provided [RCV000683088] Chr9:203861..378086 [GRCh37]
Chr9:9p24.3		 likely pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 copy number loss not provided [RCV000683167] Chr9:203861..11271239 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3(chr9:209753-236828)x1 copy number loss not provided [RCV000683046] Chr9:209753..236828 [GRCh37]
Chr9:9p24.3		 likely pathogenic|uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-525036)x1 copy number loss not provided [RCV000683112] Chr9:203861..525036 [GRCh37]
Chr9:9p24.3		 likely pathogenic
GRCh37/hg19 9p24.3(chr9:416417-622360)x3 copy number gain not provided [RCV000683094] Chr9:416417..622360 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:314208-559164)x3 copy number gain not provided [RCV000683105] Chr9:314208..559164 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-399039)x3 copy number gain not provided [RCV000683090] Chr9:203861..399039 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:242083-567615)x3 copy number gain not provided [RCV000683113] Chr9:242083..567615 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 copy number loss not provided [RCV000683166] Chr9:203861..9924905 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3(chr9:409135-436983)x1 copy number loss not provided [RCV000683048] Chr9:409135..436983 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:388405-430789)x1 copy number loss not provided [RCV000683050] Chr9:388405..430789 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-268590)x1 copy number loss not provided [RCV000683056] Chr9:203861..268590 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:268079-309108)x1 copy number loss not provided [RCV000683049] Chr9:268079..309108 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-305975)x3 copy number gain not provided [RCV000683074] Chr9:203861..305975 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-516638)x4 copy number gain not provided [RCV000683110] Chr9:203861..516638 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-635302)x3 copy number gain not provided [RCV000683120] Chr9:203861..635302 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1 copy number loss not provided [RCV000683162] Chr9:203861..7007586 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3(chr9:203861-340662)x3 copy number gain not provided [RCV000683083] Chr9:203861..340662 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-352855)x3 copy number gain not provided [RCV000683086] Chr9:203861..352855 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-4959039)x1 copy number loss not provided [RCV000683159] Chr9:203861..4959039 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2		 pathogenic
GRCh37/hg19 9p24.3(chr9:294253-685819)x3 copy number gain not provided [RCV000683119] Chr9:294253..685819 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:322794-518499)x3 copy number gain not provided [RCV000683091] Chr9:322794..518499 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:245616-479740)x3 copy number gain not provided [RCV000683102] Chr9:245616..479740 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NM_203447.4(DOCK8):c.1765A>T (p.Met589Leu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596527] Chr9:368103 [GRCh38]
Chr9:368103 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.803T>G (p.Ile268Arg) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000701861] Chr9:317104 [GRCh38]
Chr9:317104 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3844T>C (p.Tyr1282His) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000702254]|not provided [RCV001573924] Chr9:420404 [GRCh38]
Chr9:420404 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2383G>C (p.Val795Leu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596526]|Combined immunodeficiency due to DOCK8 deficiency [RCV000700047]|Inborn genetic diseases [RCV004026498] Chr9:377154 [GRCh38]
Chr9:377154 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance|not provided
NM_203447.4(DOCK8):c.1680-2A>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596507]|not provided [RCV002223911] Chr9:368016 [GRCh38]
Chr9:368016 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_203447.4(DOCK8):c.2791A>C (p.Asn931His) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596535] Chr9:386343 [GRCh38]
Chr9:386343 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4922G>A (p.Arg1641Gln) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000690883] Chr9:434818 [GRCh38]
Chr9:434818 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5581-4T>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596509] Chr9:446366 [GRCh38]
Chr9:446366 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.3010C>T (p.Arg1004Trp) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000693883] Chr9:396824 [GRCh38]
Chr9:396824 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.742-15T>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596503] Chr9:317028 [GRCh38]
Chr9:317028 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596525]|Combined immunodeficiency due to DOCK8 deficiency [RCV000699467] Chr9:441905 [GRCh38]
Chr9:441905 [GRCh37]
Chr9:9p24.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.1868+6T>C single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596489]|DOCK8-related disorder [RCV003907942]|not specified [RCV001816694] Chr9:370306 [GRCh38]
Chr9:370306 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NC_000009.11:g.(?_271627)_(399259_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV000708328] Chr9:271627..399259 [GRCh38]
Chr9:271627..399259 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NC_000009.11:g.(?_271627)_(382685_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV000708351] Chr9:271627..382685 [GRCh38]
Chr9:271627..382685 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_203447.4(DOCK8):c.1559A>G (p.Asn520Ser) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596532] Chr9:340201 [GRCh38]
Chr9:340201 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4034G>C (p.Ser1345Thr) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000693313] Chr9:420959 [GRCh38]
Chr9:420959 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3234+2T>C single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596513]|Combined immunodeficiency due to DOCK8 deficiency [RCV000695389] Chr9:399261 [GRCh38]
Chr9:399261 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_203447.4(DOCK8):c.4774T>C (p.Phe1592Leu) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000693417]|not provided [RCV001653980] Chr9:432313 [GRCh38]
Chr9:432313 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2237G>A (p.Cys746Tyr) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596531] Chr9:377008 [GRCh38]
Chr9:377008 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5266A>T (p.Ile1756Phe) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596533] Chr9:441328 [GRCh38]
Chr9:441328 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4790A>T (p.Glu1597Val) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000691100] Chr9:433879 [GRCh38]
Chr9:433879 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.11:g.(?_214957)_(464239_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV000707776] Chr9:214957..464239 [GRCh38]
Chr9:214957..464239 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2372T>C (p.Phe791Ser) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596515] Chr9:377143 [GRCh38]
Chr9:377143 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.562G>A (p.Val188Met) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000705733] Chr9:311987 [GRCh38]
Chr9:311987 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.6238A>G (p.Arg2080Gly) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000698501] Chr9:463686 [GRCh38]
Chr9:463686 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.11:g.(?_214957)_(215049_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV000708303] Chr9:214957..215049 [GRCh38]
Chr9:214957..215049 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.11:g.(?_214957)_(340341_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV000708314] Chr9:214957..340341 [GRCh38]
Chr9:214957..340341 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1012T>C (p.Tyr338His) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596516] Chr9:328139 [GRCh38]
Chr9:328139 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3530+1G>A single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000694410] Chr9:407070 [GRCh38]
Chr9:407070 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_203447.4(DOCK8):c.3757G>A (p.Gly1253Ser) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000706145]|not provided [RCV003432747] Chr9:418124 [GRCh38]
Chr9:418124 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.539G>A (p.Arg180His) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000692201] Chr9:311964 [GRCh38]
Chr9:311964 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:438194-492354)x3 copy number gain not provided [RCV000845679] Chr9:438194..492354 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4627-85T>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001544026]|not provided [RCV001673173]|not specified [RCV003487467] Chr9:432081 [GRCh38]
Chr9:432081 [GRCh37]
Chr9:9p24.3		 benign
NC_000009.12:g.(?_214957)_(464239_?)del deletion Combined immunodeficiency due to DOCK8 deficiency [RCV000820609] Chr9:214957..464239 [GRCh38]
Chr9:214957..464239 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.2875-103C>T single nucleotide variant not provided [RCV001547921] Chr9:390368 [GRCh38]
Chr9:390368 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4242-128G>A single nucleotide variant not provided [RCV001539830] Chr9:426757 [GRCh38]
Chr9:426757 [GRCh37]
Chr9:9p24.3		 likely benign
NC_000009.12:g.(?_10000)_(400952_?)del deletion Schizophrenia [RCV000754357] Chr9:10000..400952 [GRCh38]
Chr9:9p24.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3(chr9:10590-364675)x3 copy number gain not provided [RCV000748052] Chr9:10590..364675 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3(chr9:46587-347559)x3 copy number gain not provided [RCV000748057] Chr9:46587..347559 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:46587-398673)x3 copy number gain not provided [RCV000748058] Chr9:46587..398673 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3-24.1(chr9:46587-5486856)x1 copy number loss not provided [RCV000748059] Chr9:46587..5486856 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 copy number loss not provided [RCV000748060] Chr9:46587..12532584 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3(chr9:185632-359338)x3 copy number gain not provided [RCV000748064] Chr9:185632..359338 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:186603-215534)x1 copy number loss not provided [RCV000748065] Chr9:186603..215534 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:186603-243357)x1 copy number loss not provided [RCV000748066] Chr9:186603..243357 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:188894-215269)x1 copy number loss not provided [RCV000748067] Chr9:188894..215269 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:188894-377066)x3 copy number gain not provided [RCV000748068] Chr9:188894..377066 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:204201-319782)x1 copy number loss not provided [RCV000748069] Chr9:204201..319782 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:214864-245706)x1 copy number loss not provided [RCV000748070] Chr9:214864..245706 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:250453-411437)x4 copy number gain not provided [RCV000748071] Chr9:250453..411437 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:286102-398673)x3 copy number gain not provided [RCV000748072] Chr9:286102..398673 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:304957-398673)x3 copy number gain not provided [RCV000748073] Chr9:304957..398673 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:312134-331490)x1 copy number loss not provided [RCV000748074] Chr9:312134..331490 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:314516-418003)x3 copy number gain not provided [RCV000748075] Chr9:314516..418003 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:316515-325993)x1 copy number loss not provided [RCV000748076] Chr9:316515..325993 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:318153-326767)x1 copy number loss not provided [RCV000748077] Chr9:318153..326767 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:325993-349926)x3 copy number gain not provided [RCV000748078] Chr9:325993..349926 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:325993-398673)x3 copy number gain not provided [RCV000748079] Chr9:325993..398673 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:326767-601493)x3 copy number gain not provided [RCV000748080] Chr9:326767..601493 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:329830-355793)x3 copy number gain not provided [RCV000748081] Chr9:329830..355793 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:345900-355793)x1 copy number loss not provided [RCV000748082] Chr9:345900..355793 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.5962-9T>C single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596653]|Combined immunodeficiency due to DOCK8 deficiency [RCV000893257]|not specified [RCV001818681] Chr9:452002 [GRCh38]
Chr9:452002 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.6069-230_6069-229del deletion not provided [RCV001537323] Chr9:463277..463278 [GRCh38]
Chr9:463277..463278 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1798-4A>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003761392]|not provided [RCV001531728] Chr9:370226 [GRCh38]
Chr9:370226 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.4786-167C>T single nucleotide variant not provided [RCV001648195] Chr9:433708 [GRCh38]
Chr9:433708 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1423-284G>C single nucleotide variant not provided [RCV001667418] Chr9:338722 [GRCh38]
Chr9:338722 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.6069-229del deletion not provided [RCV001612362] Chr9:463277 [GRCh38]
Chr9:463277 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2646G>A (p.Thr882=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595638]|DOCK8-related disorder [RCV003895720] Chr9:382553 [GRCh38]
Chr9:382553 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.333-162C>G single nucleotide variant not provided [RCV001690437] Chr9:289348 [GRCh38]
Chr9:289348 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.894+10C>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596696] Chr9:325747 [GRCh38]
Chr9:325747 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.5223+65G>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001544028]|not provided [RCV001534623]|not specified [RCV003394117] Chr9:439453 [GRCh38]
Chr9:439453 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2008-140G>A single nucleotide variant not provided [RCV001586166] Chr9:372045 [GRCh38]
Chr9:372045 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1126-177_1126-176insTTCTGGC insertion not provided [RCV001668875] Chr9:334047..334048 [GRCh38]
Chr9:334047..334048 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2206-48A>G single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001544387]|not provided [RCV001685496]|not specified [RCV003399355] Chr9:376929 [GRCh38]
Chr9:376929 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2605+30T>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001544388]|not provided [RCV001713016]|not specified [RCV003394127] Chr9:379965 [GRCh38]
Chr9:379965 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.372C>T (p.Thr124=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001423414] Chr9:289549 [GRCh38]
Chr9:289549 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.5962-40_5962-22del deletion not provided [RCV001566802] Chr9:451970..451988 [GRCh38]
Chr9:451970..451988 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3120+82A>G single nucleotide variant not provided [RCV001547532] Chr9:397016 [GRCh38]
Chr9:397016 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1679+263G>A single nucleotide variant not provided [RCV001575158] Chr9:340584 [GRCh38]
Chr9:340584 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1422G>A (p.Gln474=) single nucleotide variant not provided [RCV000762544] Chr9:336718 [GRCh38]
Chr9:336718 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3323A>G (p.Asn1108Ser) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762871]|not provided [RCV000762545] Chr9:405006 [GRCh38]
Chr9:405006 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4339-3C>G single nucleotide variant not provided [RCV000762546] Chr9:428359 [GRCh38]
Chr9:428359 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5858AGA[2] (p.Lys1955del) microsatellite not provided [RCV000762548] Chr9:449822..449824 [GRCh38]
Chr9:449822..449824 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5985G>A (p.Val1995=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762872]|not provided [RCV000762549] Chr9:452034 [GRCh38]
Chr9:452034 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.5653G>A (p.Glu1885Lys) single nucleotide variant not provided [RCV000762547] Chr9:446442 [GRCh38]
Chr9:446442 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*122C>T single nucleotide variant not provided [RCV001576850] Chr9:464341 [GRCh38]
Chr9:464341 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4622C>A (p.Thr1541Asn) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763787] Chr9:429850 [GRCh38]
Chr9:429850 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.12:g.(?_304561)_(399279_?)del deletion Autosomal recessive hyper-IgE syndrome [RCV004563759] Chr9:304561..399279 [GRCh37]
Chr9:9p24.3		 pathogenic
NC_000009.12:g.(?_336562)_(464239_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV001032025] Chr9:336562..464239 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.12:g.(?_214957)_(317148_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV001032028] Chr9:214957..317148 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.12:g.(?_214957)_(304724_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV001032052] Chr9:214957..304724 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1798-105A>G single nucleotide variant not provided [RCV001569650] Chr9:370125 [GRCh38]
Chr9:370125 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.5080-142G>A single nucleotide variant not provided [RCV001569840] Chr9:439103 [GRCh38]
Chr9:439103 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.53+300G>A single nucleotide variant not provided [RCV001691618] Chr9:215329 [GRCh38]
Chr9:215329 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.4241+22T>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001544021]|not provided [RCV001647395]|not specified [RCV003399346] Chr9:422157 [GRCh38]
Chr9:422157 [GRCh37]
Chr9:9p24.3		 benign
NC_000009.12:g.(?_311934)_(464239_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV001031354] Chr9:311934..464239 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4785+179T>C single nucleotide variant not provided [RCV001691939] Chr9:432503 [GRCh38]
Chr9:432503 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.5962-36_5962-21del deletion not provided [RCV001578251] Chr9:451974..451989 [GRCh38]
Chr9:451974..451989 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2713A>T (p.Asn905Tyr) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001166563] Chr9:382620 [GRCh38]
Chr9:382620 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1680-102G>A single nucleotide variant not provided [RCV001574607] Chr9:367916 [GRCh38]
Chr9:367916 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3826G>A (p.Val1276Met) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763793] Chr9:418193 [GRCh38]
Chr9:418193 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.12:g.(?_214957)_(399279_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV001031509] Chr9:214957..399279 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1970A>G (p.Lys657Arg) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001167343] Chr9:371529 [GRCh38]
Chr9:371529 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*344A>G single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001167348] Chr9:464563 [GRCh38]
Chr9:464563 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.12:g.(?_304561)_(399279_?)dup duplication Autosomal recessive hyper-IgE syndrome [RCV004563752] Chr9:304561..399279 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NC_000009.12:g.(?_332378)_(334404_?)del deletion Autosomal recessive hyper-IgE syndrome [RCV004563755] Chr9:332378..334404 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.2007+237G>A single nucleotide variant not provided [RCV001567888] Chr9:371803 [GRCh38]
Chr9:371803 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4474-85C>T single nucleotide variant not provided [RCV001567975] Chr9:429617 [GRCh38]
Chr9:429617 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4474-255G>T single nucleotide variant not provided [RCV001575441] Chr9:429447 [GRCh38]
Chr9:429447 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1036G>A (p.Val346Ile) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595698]|Combined immunodeficiency due to DOCK8 deficiency [RCV001167141] Chr9:328163 [GRCh38]
Chr9:328163 [GRCh37]
Chr9:9p24.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.5493A>G (p.Ala1831=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762943] Chr9:443429 [GRCh38]
Chr9:443429 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1779T>C (p.Asp593=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596705] Chr9:368117 [GRCh38]
Chr9:368117 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4467C>T (p.Ile1489=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595618] Chr9:428490 [GRCh38]
Chr9:428490 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1041C>T (p.Val347=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595643] Chr9:328168 [GRCh38]
Chr9:328168 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3195G>C (p.Arg1065=) single nucleotide variant not provided [RCV000922945] Chr9:399220 [GRCh38]
Chr9:399220 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.987G>A (p.Ala329=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001476427] Chr9:328114 [GRCh38]
Chr9:328114 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.541C>G (p.His181Asp) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762912]|Combined immunodeficiency due to DOCK8 deficiency [RCV000880794]|not provided [RCV003424437] Chr9:311966 [GRCh38]
Chr9:311966 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.5199G>A (p.Glu1733=) single nucleotide variant not provided [RCV000925792] Chr9:439364 [GRCh38]
Chr9:439364 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.154C>T (p.Leu52=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596667] Chr9:271727 [GRCh38]
Chr9:271727 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.90C>G (p.Leu30=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595645] Chr9:271663 [GRCh38]
Chr9:271663 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4241+8A>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595629] Chr9:422143 [GRCh38]
Chr9:422143 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4353G>C (p.Leu1451=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595607] Chr9:428376 [GRCh38]
Chr9:428376 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.822C>G (p.Thr274=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595614] Chr9:317123 [GRCh38]
Chr9:317123 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4724G>A (p.Arg1575Lys) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596637]|Combined immunodeficiency due to DOCK8 deficiency [RCV000879098]|Inborn genetic diseases [RCV004027922]|not provided [RCV002251528] Chr9:432263 [GRCh38]
Chr9:432263 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.5868C>T (p.Thr1956=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762913]|DOCK8-related disorder [RCV003920779] Chr9:449834 [GRCh38]
Chr9:449834 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4627-6A>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595613] Chr9:432160 [GRCh38]
Chr9:432160 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.240C>G (p.Ala80=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001440423] Chr9:286544 [GRCh38]
Chr9:286544 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3060A>C (p.Ile1020=) single nucleotide variant not provided [RCV000914965] Chr9:396874 [GRCh38]
Chr9:396874 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1908C>A (p.Pro636=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001858581] Chr9:371467 [GRCh38]
Chr9:371467 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3972C>T (p.Leu1324=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595609] Chr9:420532 [GRCh38]
Chr9:420532 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.333-8del deletion Autosomal recessive hyper-IgE syndrome [RCV003762926] Chr9:289501 [GRCh38]
Chr9:289501 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1824T>A (p.Pro608=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596670]|not provided [RCV003432894] Chr9:370256 [GRCh38]
Chr9:370256 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.5892C>T (p.Asn1964=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596659]|Combined immunodeficiency due to DOCK8 deficiency [RCV000898497]|not specified [RCV001818733] Chr9:449858 [GRCh38]
Chr9:449858 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.5208G>A (p.Ala1736=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001471505] Chr9:439373 [GRCh38]
Chr9:439373 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.696C>T (p.Thr232=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596665] Chr9:312121 [GRCh38]
Chr9:312121 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.519C>T (p.Pro173=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595610] Chr9:304695 [GRCh38]
Chr9:304695 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1860C>T (p.Tyr620=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001858565] Chr9:370292 [GRCh38]
Chr9:370292 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.846G>A (p.Glu282=) single nucleotide variant not provided [RCV000944536] Chr9:325689 [GRCh38]
Chr9:325689 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1098G>A (p.Thr366=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596711]|Combined immunodeficiency due to DOCK8 deficiency [RCV000925408]|DOCK8-related disorder [RCV003983279] Chr9:332451 [GRCh38]
Chr9:332451 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.6069-5C>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596709] Chr9:463512 [GRCh38]
Chr9:463512 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3234+13_3234+15dup duplication not provided [RCV000948354] Chr9:399267..399268 [GRCh38]
Chr9:399267..399268 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3075T>C (p.Asn1025=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595641] Chr9:396889 [GRCh38]
Chr9:396889 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1703A>G (p.Gln568Arg) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001036771] Chr9:368041 [GRCh38]
Chr9:368041 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.24G>C (p.Glu8Asp) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763800]|Inborn genetic diseases [RCV004619508] Chr9:215000 [GRCh38]
Chr9:215000 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-382931)x1 copy number loss not provided [RCV001006159] Chr9:203861..382931 [GRCh37]
Chr9:9p24.3		 pathogenic
NC_000009.12:g.(?_213865)_(466259_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV001033225] Chr9:213865..466259 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5900C>T (p.Pro1967Leu) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001061837] Chr9:449866 [GRCh38]
Chr9:449866 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3803del (p.Phe1268fs) deletion Autosomal recessive hyper-IgE syndrome [RCV003763746] Chr9:418168 [GRCh38]
Chr9:418168 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.2110-5_2110-2del deletion Autosomal recessive hyper-IgE syndrome [RCV003763766] Chr9:376204..376207 [GRCh38]
Chr9:376204..376207 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4109G>A (p.Arg1370His) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001042604]|Inborn genetic diseases [RCV004031292]|not provided [RCV004693490]|not specified [RCV001195229] Chr9:421034 [GRCh38]
Chr9:421034 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4468G>A (p.Ala1490Thr) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762974] Chr9:428491 [GRCh38]
Chr9:428491 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.49A>T (p.Asn17Tyr) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763781] Chr9:215025 [GRCh38]
Chr9:215025 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.12:g.(?_214957)_(396954_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV001032760] Chr9:214957..396954 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5002G>A (p.Ala1668Thr) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001068916] Chr9:434898 [GRCh38]
Chr9:434898 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1610G>A (p.Arg537Gln) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595663] Chr9:340252 [GRCh38]
Chr9:340252 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2755G>C (p.Val919Leu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763744] Chr9:382662 [GRCh38]
Chr9:382662 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2751G>T (p.Glu917Asp) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001036333] Chr9:382658 [GRCh38]
Chr9:382658 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3307C>A (p.His1103Asn) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763772] Chr9:404990 [GRCh38]
Chr9:404990 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5766G>A (p.Met1922Ile) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763773] Chr9:446555 [GRCh38]
Chr9:446555 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1273G>C (p.Asp425His) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001060624] Chr9:334372 [GRCh38]
Chr9:334372 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5729A>G (p.His1910Arg) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001051257] Chr9:446518 [GRCh38]
Chr9:446518 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.894+256G>A single nucleotide variant not provided [RCV000826437] Chr9:325993 [GRCh38]
Chr9:325993 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_203447.4(DOCK8):c.2071G>A (p.Glu691Lys) single nucleotide variant not provided [RCV000788347] Chr9:372248 [GRCh38]
Chr9:372248 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3721C>T (p.Arg1241Cys) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000809362]|Inborn genetic diseases [RCV002537311] Chr9:418088 [GRCh38]
Chr9:418088 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.900A>G (p.Ser300=) single nucleotide variant not provided [RCV000895339] Chr9:328027 [GRCh38]
Chr9:328027 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1086A>G (p.Ala362=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595637] Chr9:332439 [GRCh38]
Chr9:332439 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1708C>T (p.Leu570=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595608] Chr9:368046 [GRCh38]
Chr9:368046 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3154C>T (p.Leu1052=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596677] Chr9:399179 [GRCh38]
Chr9:399179 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4122C>T (p.Ala1374=) single nucleotide variant not provided [RCV000977714] Chr9:421047 [GRCh38]
Chr9:421047 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1719A>T (p.Val573=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001403377] Chr9:368057 [GRCh38]
Chr9:368057 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3(chr9:211086-416351)x3 copy number gain not provided [RCV000856655] Chr9:211086..416351 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.396G>T (p.Val132=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762936] Chr9:289573 [GRCh38]
Chr9:289573 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4488C>T (p.Leu1496=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001456413] Chr9:429716 [GRCh38]
Chr9:429716 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.5901G>T (p.Pro1967=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001421650] Chr9:449867 [GRCh38]
Chr9:449867 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.780C>T (p.Pro260=) single nucleotide variant not provided [RCV000938731] Chr9:317081 [GRCh38]
Chr9:317081 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.4758C>T (p.Ala1586=) single nucleotide variant not provided [RCV000941113] Chr9:432297 [GRCh38]
Chr9:432297 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.5205C>T (p.Ala1735=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596689]|Combined immunodeficiency due to DOCK8 deficiency [RCV000916304] Chr9:439370 [GRCh38]
Chr9:439370 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.15G>A (p.Pro5=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596640]|DOCK8-related disorder [RCV003968024]|not provided [RCV003884784] Chr9:214991 [GRCh38]
Chr9:214991 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.5622G>A (p.Glu1874=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595636] Chr9:446411 [GRCh38]
Chr9:446411 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.529-5C>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596655] Chr9:311949 [GRCh38]
Chr9:311949 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_203447.4(DOCK8):c.1091C>G (p.Pro364Arg) single nucleotide variant Intellectual disability [RCV001251738] Chr9:332444 [GRCh38]
Chr9:332444 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2953T>C (p.Phe985Leu) single nucleotide variant Inborn genetic diseases [RCV003289829] Chr9:390549 [GRCh38]
Chr9:390549 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-265340)x1 copy number loss not provided [RCV001006162] Chr9:203861..265340 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2007+200A>G single nucleotide variant not provided [RCV000837386] Chr9:371766 [GRCh38]
Chr9:371766 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.4241+185G>C single nucleotide variant not provided [RCV000837387] Chr9:422320 [GRCh38]
Chr9:422320 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2482G>A (p.Ala828Thr) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000793045]|not specified [RCV003151149] Chr9:379812 [GRCh38]
Chr9:379812 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.828-269T>C single nucleotide variant not provided [RCV000832672] Chr9:325402 [GRCh38]
Chr9:325402 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.3158C>T (p.Ala1053Val) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596612] Chr9:399183 [GRCh38]
Chr9:399183 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2970+70A>G single nucleotide variant not provided [RCV000832560]|not specified [RCV003396468] Chr9:390636 [GRCh38]
Chr9:390636 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.367C>G (p.Gln123Glu) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000799587] Chr9:289544 [GRCh38]
Chr9:289544 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2206-12C>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596629]|not provided [RCV000842116] Chr9:376965 [GRCh38]
Chr9:376965 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3196G>A (p.Gly1066Ser) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596605] Chr9:399221 [GRCh38]
Chr9:399221 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2605+100G>T single nucleotide variant not provided [RCV000834359]|not specified [RCV003396476] Chr9:380035 [GRCh38]
Chr9:380035 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.3701-65T>C single nucleotide variant not provided [RCV000834362]|not specified [RCV003396477] Chr9:418003 [GRCh38]
Chr9:418003 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.3840+69T>G single nucleotide variant not provided [RCV000834363]|not specified [RCV003396478] Chr9:418276 [GRCh38]
Chr9:418276 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.485C>T (p.Thr162Met) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596623] Chr9:304661 [GRCh38]
Chr9:304661 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.11:g.(?_214957)_(452137_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV000822557] Chr9:214957..452137 [GRCh38]
Chr9:214957..452137 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1422+271G>T single nucleotide variant not provided [RCV000832204] Chr9:336989 [GRCh38]
Chr9:336989 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2440+327G>A single nucleotide variant not provided [RCV000832205] Chr9:377538 [GRCh38]
Chr9:377538 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.54-93A>G single nucleotide variant not provided [RCV000834479] Chr9:271534 [GRCh38]
Chr9:271534 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.156+93A>G single nucleotide variant not provided [RCV000834480] Chr9:271822 [GRCh38]
Chr9:271822 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.895-60A>G single nucleotide variant not provided [RCV000834481] Chr9:327962 [GRCh38]
Chr9:327962 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2008-64G>A single nucleotide variant not provided [RCV000834482] Chr9:372121 [GRCh38]
Chr9:372121 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2109+55C>T single nucleotide variant not provided [RCV000834483] Chr9:372341 [GRCh38]
Chr9:372341 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2110-91T>C single nucleotide variant not provided [RCV000834484] Chr9:376119 [GRCh38]
Chr9:376119 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.167A>G (p.Tyr56Cys) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596579] Chr9:286471 [GRCh38]
Chr9:286471 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.242A>G (p.Gln81Arg) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762884] Chr9:286546 [GRCh38]
Chr9:286546 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.6239+15G>C single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596625]|not provided [RCV000836171] Chr9:463702 [GRCh38]
Chr9:463702 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.476C>T (p.Pro159Leu) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000823874] Chr9:304652 [GRCh38]
Chr9:304652 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3012G>T (p.Arg1004=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001417527] Chr9:396826 [GRCh38]
Chr9:396826 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.54-55T>C single nucleotide variant not provided [RCV000834567] Chr9:271572 [GRCh38]
Chr9:271572 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2874+130C>T single nucleotide variant not provided [RCV000834577] Chr9:386556 [GRCh38]
Chr9:386556 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2205+233G>T single nucleotide variant not provided [RCV000836288] Chr9:376538 [GRCh38]
Chr9:376538 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2441-130A>G single nucleotide variant not provided [RCV000836289]|not specified [RCV003396480] Chr9:379641 [GRCh38]
Chr9:379641 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.4858C>G (p.Pro1620Ala) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762894] Chr9:433947 [GRCh38]
Chr9:433947 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.12:g.(?_334205)_(340341_?)del deletion Autosomal recessive hyper-IgE syndrome [RCV004561914] Chr9:334205..340341 [GRCh38]
Chr9:334205..340341 [GRCh37]
Chr9:9p24.3		 pathogenic
NC_000009.11:g.(?_325651)_(464239_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV000802572] Chr9:325651..464239 [GRCh38]
Chr9:325651..464239 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.971C>A (p.Ala324Asp) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000811540] Chr9:328098 [GRCh38]
Chr9:328098 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.11:g.(?_214957)_(407089_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV000823251] Chr9:214957..407089 [GRCh38]
Chr9:214957..407089 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.156+29G>A single nucleotide variant not provided [RCV000834809] Chr9:271758 [GRCh38]
Chr9:271758 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.349C>T (p.His117Tyr) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000821695] Chr9:289526 [GRCh38]
Chr9:289526 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.404+288T>C single nucleotide variant not provided [RCV000829058] Chr9:289869 [GRCh38]
Chr9:289869 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.4627-318A>G single nucleotide variant not provided [RCV000826452] Chr9:431848 [GRCh38]
Chr9:431848 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.4627-306T>C single nucleotide variant not provided [RCV000826453] Chr9:431860 [GRCh38]
Chr9:431860 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.4785+301A>G single nucleotide variant not provided [RCV000826454] Chr9:432625 [GRCh38]
Chr9:432625 [GRCh37]
Chr9:9p24.3		 benign
NC_000009.12:g.(?_214957)_(328191_?)del deletion Autosomal recessive hyper-IgE syndrome [RCV004561927] Chr9:214957..328191 [GRCh38]
Chr9:214957..328191 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.3121-281A>G single nucleotide variant not provided [RCV000826438] Chr9:398865 [GRCh38]
Chr9:398865 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.5817+314C>A single nucleotide variant not provided [RCV000826457] Chr9:446920 [GRCh38]
Chr9:446920 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.5490+263G>C single nucleotide variant not provided [RCV000826456] Chr9:442272 [GRCh38]
Chr9:442272 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.3:c.-113C>T single nucleotide variant not provided [RCV000833524] Chr9:214864 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2971-36T>G single nucleotide variant not provided [RCV000833525]|not specified [RCV003396472] Chr9:396749 [GRCh38]
Chr9:396749 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2971-35C>A single nucleotide variant not provided [RCV000833526]|not specified [RCV003396473] Chr9:396750 [GRCh38]
Chr9:396750 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.156+135T>C single nucleotide variant not provided [RCV000835328] Chr9:271864 [GRCh38]
Chr9:271864 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.4785+72A>T single nucleotide variant not provided [RCV000835390] Chr9:432396 [GRCh38]
Chr9:432396 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.3(DOCK8):c.-173A>G single nucleotide variant not provided [RCV000833735]|not specified [RCV003396474] Chr9:214804 [GRCh38]
Chr9:214804 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1588G>A (p.Val530Met) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000818813]|Intellectual disability [RCV001251742] Chr9:340230 [GRCh38]
Chr9:340230 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.4764G>C (p.Gln1588His) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596611] Chr9:432303 [GRCh38]
Chr9:432303 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.54-160C>T single nucleotide variant not provided [RCV000833736] Chr9:271467 [GRCh38]
Chr9:271467 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1423-100G>A single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001544389]|not provided [RCV000833737] Chr9:338906 [GRCh38]
Chr9:338906 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:203861-273071)x3 copy number gain not provided [RCV000849003] Chr9:203861..273071 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5044C>T (p.His1682Tyr) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596602] Chr9:434940 [GRCh38]
Chr9:434940 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.823T>G (p.Leu275Val) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762888] Chr9:317124 [GRCh38]
Chr9:317124 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1868+4A>T single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000803121] Chr9:370304 [GRCh38]
Chr9:370304 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.428G>T (p.Cys143Phe) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596603] Chr9:304604 [GRCh38]
Chr9:304604 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2110-88C>T single nucleotide variant not provided [RCV000834192]|not specified [RCV003396475] Chr9:376122 [GRCh38]
Chr9:376122 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:322793-518499)x3 copy number gain not provided [RCV000849501] Chr9:322793..518499 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3840+110G>C single nucleotide variant not provided [RCV000834316] Chr9:418317 [GRCh38]
Chr9:418317 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1422+101G>T single nucleotide variant not provided [RCV000834390] Chr9:336819 [GRCh38]
Chr9:336819 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.3700+93A>C single nucleotide variant not provided [RCV000834435]|not specified [RCV003396479] Chr9:415044 [GRCh38]
Chr9:415044 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.4626+86T>G single nucleotide variant not provided [RCV000834436] Chr9:429940 [GRCh38]
Chr9:429940 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1876G>T (p.Asp626Tyr) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762879] Chr9:371435 [GRCh38]
Chr9:371435 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-1539085)x1 copy number loss not provided [RCV000848099] Chr9:203861..1539085 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-573614)x3 copy number gain not provided [RCV000849538] Chr9:203861..573614 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.54-109T>C single nucleotide variant not provided [RCV000834478] Chr9:271518 [GRCh38]
Chr9:271518 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:304136-399039)x3 copy number gain not provided [RCV000849927] Chr9:304136..399039 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5222C>T (p.Thr1741Met) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762882] Chr9:439387 [GRCh38]
Chr9:439387 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1817G>A (p.Ser606Asn) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596616]|Combined immunodeficiency due to DOCK8 deficiency [RCV000820249]|Inborn genetic diseases [RCV002537463] Chr9:370249 [GRCh38]
Chr9:370249 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.1373G>A (p.Gly458Glu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762897] Chr9:336669 [GRCh38]
Chr9:336669 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-289697)x3 copy number gain not provided [RCV000846962] Chr9:203861..289697 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2606-103C>G single nucleotide variant not provided [RCV000835400] Chr9:382410 [GRCh38]
Chr9:382410 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 copy number loss not provided [RCV000848089] Chr9:203861..11028975 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_203447.4(DOCK8):c.3442G>A (p.Asp1148Asn) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596588] Chr9:406981 [GRCh38]
Chr9:406981 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:209753-236828)x1 copy number loss not provided [RCV000847034] Chr9:209753..236828 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:402293-518499)x3 copy number gain not provided [RCV000846030] Chr9:402293..518499 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-402280)x3 copy number gain not provided [RCV000847081] Chr9:203861..402280 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-238536)x1 copy number loss not provided [RCV000849725] Chr9:203861..238536 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-24.2(chr9:203861-2978707)x1 copy number loss not provided [RCV000849761] Chr9:203861..2978707 [GRCh37]
Chr9:9p24.3-24.2		 pathogenic
NM_203447.4(DOCK8):c.1285+140G>A single nucleotide variant not provided [RCV000836283] Chr9:334524 [GRCh38]
Chr9:334524 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1797+153G>A single nucleotide variant not provided [RCV000836285] Chr9:368288 [GRCh38]
Chr9:368288 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:250117-410357)x3 copy number gain not provided [RCV000848479] Chr9:250117..410357 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-273057)x3 copy number gain not provided [RCV000848505] Chr9:203861..273057 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1797+154T>C single nucleotide variant not provided [RCV000836286] Chr9:368289 [GRCh38]
Chr9:368289 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.827+242G>C single nucleotide variant not provided [RCV000836310] Chr9:317370 [GRCh38]
Chr9:317370 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1680-131A>T single nucleotide variant not provided [RCV000836311] Chr9:367887 [GRCh38]
Chr9:367887 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1126-121T>A single nucleotide variant not provided [RCV000836315] Chr9:334104 [GRCh38]
Chr9:334104 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2594T>C (p.Val865Ala) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000818083] Chr9:379924 [GRCh38]
Chr9:379924 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.53+240A>C single nucleotide variant not provided [RCV000836371] Chr9:215269 [GRCh38]
Chr9:215269 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_203447.4(DOCK8):c.742-45C>T single nucleotide variant not provided [RCV000832540]|not specified [RCV003392632] Chr9:316998 [GRCh38]
Chr9:316998 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1798-31A>G single nucleotide variant not provided [RCV000832541]|not specified [RCV003396465] Chr9:370199 [GRCh38]
Chr9:370199 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1868+70G>C single nucleotide variant not provided [RCV000832542]|not specified [RCV003396466] Chr9:370370 [GRCh38]
Chr9:370370 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2110-31T>A single nucleotide variant not provided [RCV000832543]|not specified [RCV003396467] Chr9:376179 [GRCh38]
Chr9:376179 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2874+133A>C single nucleotide variant not provided [RCV000832559] Chr9:386559 [GRCh38]
Chr9:386559 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.5961+29C>T single nucleotide variant not provided [RCV000832561] Chr9:449956 [GRCh38]
Chr9:449956 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.6068+32G>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001544170]|not provided [RCV000832562] Chr9:452149 [GRCh38]
Chr9:452149 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1016C>T (p.Pro339Leu) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000824280]|not specified [RCV001816912] Chr9:328143 [GRCh38]
Chr9:328143 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1307G>A (p.Arg436Gln) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596624] Chr9:336603 [GRCh38]
Chr9:336603 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-273233)x3 copy number gain not provided [RCV000848804] Chr9:203861..273233 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4904A>G (p.Gln1635Arg) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596570]|Combined immunodeficiency due to DOCK8 deficiency [RCV000798197] Chr9:434800 [GRCh38]
Chr9:434800 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2874+253C>T single nucleotide variant not provided [RCV000832951] Chr9:386679 [GRCh38]
Chr9:386679 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.3391-287A>G single nucleotide variant not provided [RCV000832953] Chr9:406643 [GRCh38]
Chr9:406643 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:203861-429474)x3 copy number gain not provided [RCV000848593] Chr9:203861..429474 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.12:g.(?_214957)_(422155_?)del deletion Autosomal recessive hyper-IgE syndrome [RCV004561915] Chr9:214957..422155 [GRCh38]
Chr9:214957..422155 [GRCh37]
Chr9:9p24.3		 pathogenic
GRCh37/hg19 9p24.3(chr9:203861-259575)x3 copy number gain not provided [RCV000847553] Chr9:203861..259575 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-289697)x3 copy number gain not provided [RCV000848636] Chr9:203861..289697 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-228301)x1 copy number loss not provided [RCV000849318] Chr9:203861..228301 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.11:g.(?_420381)_(464239_?)dup duplication Autosomal recessive hyper-IgE syndrome [RCV004561907] Chr9:420381..464239 [GRCh38]
Chr9:420381..464239 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.955C>T (p.His319Tyr) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003769800]|Combined immunodeficiency due to DOCK8 deficiency [RCV001165548]|not specified [RCV003151287] Chr9:328082 [GRCh38]
Chr9:328082 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.470C>T (p.Thr157Met) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595696]|Combined immunodeficiency due to DOCK8 deficiency [RCV001166957]|DOCK8-related disorder [RCV003938538]|not provided [RCV003433072] Chr9:304646 [GRCh38]
Chr9:304646 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.3194G>T (p.Arg1065Leu) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000809738] Chr9:399219 [GRCh38]
Chr9:399219 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:404371-613317)x3 copy number gain not provided [RCV000846124] Chr9:404371..613317 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.701G>A (p.Arg234Lys) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001169437] Chr9:312126 [GRCh38]
Chr9:312126 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*204C>A single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001165764] Chr9:464423 [GRCh38]
Chr9:464423 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3769C>G (p.Gln1257Glu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762889] Chr9:418136 [GRCh38]
Chr9:418136 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2444A>C (p.Asn815Thr) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763821]|Combined immunodeficiency due to DOCK8 deficiency [RCV001165975] Chr9:379774 [GRCh38]
Chr9:379774 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000009.12:g.(?_271607)_(340341_?)del deletion Autosomal recessive hyper-IgE syndrome [RCV004563758] Chr9:271607..340341 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.2087A>G (p.Asn696Ser) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001167345] Chr9:372264 [GRCh38]
Chr9:372264 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-573614)x3 copy number gain not provided [RCV000846466] Chr9:203861..573614 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-302936)x3 copy number gain not provided [RCV000846480] Chr9:203861..302936 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1285+282T>C single nucleotide variant not provided [RCV000828756] Chr9:334666 [GRCh38]
Chr9:334666 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.5408A>C (p.Lys1803Thr) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001067023]|Inborn genetic diseases [RCV002554507] Chr9:441927 [GRCh38]
Chr9:441927 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:328022-464219)x3 copy number gain not provided [RCV000999304] Chr9:328022..464219 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.12:g.(?_370210)_(452137_?)del deletion Autosomal recessive hyper-IgE syndrome [RCV004563764] Chr9:370210..452137 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.1422+327G>C single nucleotide variant not provided [RCV000828757] Chr9:337045 [GRCh38]
Chr9:337045 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1423-293C>G single nucleotide variant not provided [RCV000828758] Chr9:338713 [GRCh38]
Chr9:338713 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1797+387A>G single nucleotide variant not provided [RCV000828759] Chr9:368522 [GRCh38]
Chr9:368522 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:203861-450060)x3 copy number gain not provided [RCV000846936] Chr9:203861..450060 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*182T>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001165762] Chr9:464401 [GRCh38]
Chr9:464401 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*195G>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001165763] Chr9:464414 [GRCh38]
Chr9:464414 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5207C>T (p.Ala1736Val) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001168735]|Inborn genetic diseases [RCV002559619] Chr9:439372 [GRCh38]
Chr9:439372 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2719G>A (p.Asp907Asn) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595694]|Combined immunodeficiency due to DOCK8 deficiency [RCV001166565] Chr9:382626 [GRCh38]
Chr9:382626 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4626+260C>G single nucleotide variant not provided [RCV000826439] Chr9:430114 [GRCh38]
Chr9:430114 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.529-10T>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001166959] Chr9:311944 [GRCh38]
Chr9:311944 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.698A>T (p.Asn233Ile) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001168675] Chr9:312123 [GRCh38]
Chr9:312123 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5817+285T>C single nucleotide variant not provided [RCV000829074] Chr9:446891 [GRCh38]
Chr9:446891 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.4785+8G>A single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763822]|Combined immunodeficiency due to DOCK8 deficiency [RCV001167027] Chr9:432332 [GRCh38]
Chr9:432332 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.5825T>C (p.Leu1942Ser) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001167088] Chr9:449791 [GRCh38]
Chr9:449791 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*378G>A single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001167349] Chr9:464597 [GRCh38]
Chr9:464597 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.*743C>T single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001167350] Chr9:464962 [GRCh38]
Chr9:464962 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.156+304A>G single nucleotide variant not provided [RCV000832948] Chr9:272033 [GRCh38]
Chr9:272033 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.3:c.53+52T>G single nucleotide variant not provided [RCV000836148] Chr9:215081 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.640C>T (p.Leu214=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762899]|not provided [RCV000836213] Chr9:312065 [GRCh38]
Chr9:312065 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_203447.4(DOCK8):c.1422+182T>G single nucleotide variant not provided [RCV000836284] Chr9:336900 [GRCh38]
Chr9:336900 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1868+139G>A single nucleotide variant not provided [RCV000836287] Chr9:370439 [GRCh38]
Chr9:370439 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2441-128C>T single nucleotide variant not provided [RCV000836302]|not specified [RCV003396481] Chr9:379643 [GRCh38]
Chr9:379643 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2606-123T>C single nucleotide variant not provided [RCV000836303]|not specified [RCV003396482] Chr9:382390 [GRCh38]
Chr9:382390 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2970+187A>G single nucleotide variant not provided [RCV000836304] Chr9:390753 [GRCh38]
Chr9:390753 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.1868+231A>G single nucleotide variant not provided [RCV000836312] Chr9:370531 [GRCh38]
Chr9:370531 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2606-219T>C single nucleotide variant not provided [RCV000836313] Chr9:382294 [GRCh38]
Chr9:382294 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2779-237T>G single nucleotide variant not provided [RCV000836319] Chr9:386094 [GRCh38]
Chr9:386094 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2875-243C>T single nucleotide variant not provided [RCV000836320] Chr9:390228 [GRCh38]
Chr9:390228 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.3530+179C>G single nucleotide variant not provided [RCV000836321] Chr9:407248 [GRCh38]
Chr9:407248 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.4242-145G>C single nucleotide variant not provided [RCV000836322] Chr9:426740 [GRCh38]
Chr9:426740 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.4473+246C>T single nucleotide variant not provided [RCV000836323] Chr9:428742 [GRCh38]
Chr9:428742 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.4474-125A>G single nucleotide variant not provided [RCV000836324] Chr9:429577 [GRCh38]
Chr9:429577 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.950G>A (p.Arg317Gln) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596619]|not provided [RCV002291706] Chr9:328077 [GRCh38]
Chr9:328077 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.11:g.(?_271607)_(340341_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV000824665] Chr9:271607..340341 [GRCh38]
Chr9:271607..340341 [GRCh37]
Chr9:9p24.3		 likely pathogenic|uncertain significance
NM_203447.4(DOCK8):c.54-172T>C single nucleotide variant not provided [RCV000833171] Chr9:271455 [GRCh38]
Chr9:271455 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2971-73T>A single nucleotide variant not provided [RCV000833172]|not specified [RCV003396470] Chr9:396712 [GRCh38]
Chr9:396712 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.3120+116A>T single nucleotide variant not provided [RCV000833173]|not specified [RCV003396471] Chr9:397050 [GRCh38]
Chr9:397050 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.3361A>G (p.Thr1121Ala) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000812532] Chr9:405044 [GRCh38]
Chr9:405044 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2707A>G (p.Ser903Gly) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000824595] Chr9:382614 [GRCh38]
Chr9:382614 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1689C>G (p.Leu563=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596606] Chr9:368027 [GRCh38]
Chr9:368027 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.295G>A (p.Glu99Lys) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596589]|not specified [RCV003323727] Chr9:286599 [GRCh38]
Chr9:286599 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3006C>G (p.Asp1002Glu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596571] Chr9:396820 [GRCh38]
Chr9:396820 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4153+216C>G single nucleotide variant not provided [RCV000837338] Chr9:421294 [GRCh38]
Chr9:421294 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.332+188G>A single nucleotide variant not provided [RCV000837377] Chr9:286824 [GRCh38]
Chr9:286824 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2630C>G (p.Pro877Arg) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596590] Chr9:382537 [GRCh38]
Chr9:382537 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.11:g.(?_304561)_(464239_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV000795444] Chr9:304561..464239 [GRCh38]
Chr9:304561..464239 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1147C>G (p.Leu383Val) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596613] Chr9:334246 [GRCh38]
Chr9:334246 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3509C>T (p.Ala1170Val) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000803021] Chr9:407048 [GRCh38]
Chr9:407048 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.180G>T (p.Glu60Asp) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596559]|Inborn genetic diseases [RCV004027399]|not specified [RCV001816840] Chr9:286484 [GRCh38]
Chr9:286484 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4785+304G>T single nucleotide variant not provided [RCV000826455] Chr9:432628 [GRCh38]
Chr9:432628 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2875-232G>A single nucleotide variant not provided [RCV000837974] Chr9:390239 [GRCh38]
Chr9:390239 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.5223+5G>T single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003596615] Chr9:439393 [GRCh38]
Chr9:439393 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5059G>T (p.Val1687Leu) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000808845] Chr9:434955 [GRCh38]
Chr9:434955 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.333-38C>T single nucleotide variant not provided [RCV000835270] Chr9:289472 [GRCh38]
Chr9:289472 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2008-93G>A single nucleotide variant not provided [RCV000835276] Chr9:372092 [GRCh38]
Chr9:372092 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.5961+65C>T single nucleotide variant not provided [RCV000835300] Chr9:449992 [GRCh38]
Chr9:449992 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2593G>A (p.Val865Met) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000809177] Chr9:379923 [GRCh38]
Chr9:379923 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.6068+22A>G single nucleotide variant not provided [RCV000835308] Chr9:452139 [GRCh38]
Chr9:452139 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.2017A>G (p.Ile673Val) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000800607] Chr9:372194 [GRCh38]
Chr9:372194 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.559G>A (p.Asp187Asn) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000800749]|Inborn genetic diseases [RCV002534653]|not provided [RCV002290441] Chr9:311984 [GRCh38]
Chr9:311984 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.11:g.(?_214957)_(422155_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV000806572] Chr9:214957..422155 [GRCh38]
Chr9:214957..422155 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4886+6C>T single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV000809429] Chr9:433981 [GRCh38]
Chr9:433981 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.53+28T>C single nucleotide variant not provided [RCV000832539]|not specified [RCV003396464] Chr9:215057 [GRCh38]
Chr9:215057 [GRCh37]
Chr9:9p24.3		 benign
NM_203447.4(DOCK8):c.2875-7T>C single nucleotide variant not provided [RCV000842444] Chr9:390464 [GRCh38]
Chr9:390464 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1941C>T (p.Phe647=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003762901]|not provided [RCV000842645] Chr9:371500 [GRCh38]
Chr9:371500 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3(chr9:314208-518499)x3 copy number gain not provided [RCV000847126] Chr9:314208..518499 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2558A>G (p.His853Arg) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001165976] Chr9:379888 [GRCh38]
Chr9:379888 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:314208-518538)x3 copy number gain not provided [RCV001006174] Chr9:314208..518538 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-258459)x1 copy number loss not provided [RCV000846446] Chr9:203861..258459 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*754T>C single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001167949] Chr9:464973 [GRCh38]
Chr9:464973 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:249919-410357)x4 copy number gain not provided [RCV000847630] Chr9:249919..410357 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.156+7A>G single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001168165] Chr9:271736 [GRCh38]
Chr9:271736 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.492G>C (p.Glu164Asp) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001166958] Chr9:304668 [GRCh38]
Chr9:304668 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.12:g.(?_446350)_(464239_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV001032448] Chr9:446350..464239 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.223C>G (p.Leu75Val) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001046845]|not specified [RCV003151273] Chr9:286527 [GRCh38]
Chr9:286527 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.12:g.(?_271607)_(452137_?)del deletion Autosomal recessive hyper-IgE syndrome [RCV004563766] Chr9:271607..452137 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.874G>T (p.Asp292Tyr) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001065811] Chr9:325717 [GRCh38]
Chr9:325717 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
NM_203447.4(DOCK8):c.277G>A (p.Val93Met) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763792] Chr9:286581 [GRCh38]
Chr9:286581 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.*88C>G single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001169747] Chr9:464307 [GRCh38]
Chr9:464307 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5672G>A (p.Arg1891Gln) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001165487] Chr9:446461 [GRCh38]
Chr9:446461 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-402280)x3 copy number gain not provided [RCV000847750] Chr9:203861..402280 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-355137)x3 copy number gain not provided [RCV000846289] Chr9:203861..355137 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-402280)x3 copy number gain not provided [RCV000845966] Chr9:203861..402280 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-521085)x3 copy number gain not provided [RCV000845978] Chr9:203861..521085 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:403844-565917)x3 copy number gain not provided [RCV000847489] Chr9:403844..565917 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-399039)x1 copy number loss not provided [RCV000848189] Chr9:203861..399039 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:209753-236828)x1 copy number loss not provided [RCV000849181] Chr9:209753..236828 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-417448)x1 copy number loss not provided [RCV000847745] Chr9:203861..417448 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:309052-518499)x3 copy number gain not provided [RCV000848230] Chr9:309052..518499 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-561925)x3 copy number gain not provided [RCV000848898] Chr9:203861..561925 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1986G>A (p.Val662=) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001443071] Chr9:371545 [GRCh38]
Chr9:371545 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3(chr9:292083-534474)x3 copy number gain not provided [RCV000848426] Chr9:292083..534474 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-309108)x1 copy number loss not provided [RCV000849400] Chr9:203861..309108 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:379523-742934)x3 copy number gain not provided [RCV000849897] Chr9:379523..742934 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-289697)x3 copy number gain not provided [RCV000849984] Chr9:203861..289697 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:445993-622360)x3 copy number gain not provided [RCV000846831] Chr9:445993..622360 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-518499)x3 copy number gain not provided [RCV000849515] Chr9:203861..518499 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 copy number loss not provided [RCV000848063] Chr9:203861..11033228 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3(chr9:439101-552093)x3 copy number gain not provided [RCV000847606] Chr9:439101..552093 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3(chr9:203861-273057)x3 copy number gain not provided [RCV000846059] Chr9:203861..273057 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-1670196)x3 copy number gain not provided [RCV000846065] Chr9:203861..1670196 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:374830-489338)x1 copy number loss not provided [RCV001006177] Chr9:374830..489338 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2470G>A (p.Val824Met) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595713] Chr9:379800 [GRCh38]
Chr9:379800 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-273057)x3 copy number gain not provided [RCV000846400] Chr9:203861..273057 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-355137)x4 copy number gain not provided [RCV000846570] Chr9:203861..355137 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1649G>C (p.Arg550Pro) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763860]|Intellectual disability [RCV001281516] Chr9:340291 [GRCh38]
Chr9:340291 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3820G>A (p.Gly1274Arg) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763794] Chr9:418187 [GRCh38]
Chr9:418187 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5711G>A (p.Arg1904Gln) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595712]|Combined immunodeficiency due to DOCK8 deficiency [RCV001211638]|not provided [RCV001586052] Chr9:446500 [GRCh38]
Chr9:446500 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.6179T>C (p.Met2060Thr) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595729] Chr9:463627 [GRCh38]
Chr9:463627 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:445993-622360)x3 copy number gain not provided [RCV000845950] Chr9:445993..622360 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-340662)x3 copy number gain not provided [RCV000845953] Chr9:203861..340662 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.12:g.(?_334205)_(340341_?)dup duplication Autosomal recessive hyper-IgE syndrome [RCV004563760] Chr9:334205..340341 [GRCh37]
Chr9:9p24.3		 likely pathogenic
GRCh37/hg19 9p24.3(chr9:221948-277621)x3 copy number gain not provided [RCV000847008] Chr9:221948..277621 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.12:g.(?_336562)_(386446_?)del deletion Autosomal recessive hyper-IgE syndrome [RCV004563765] Chr9:336562..386446 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_203447.4(DOCK8):c.3234+102T>A single nucleotide variant not provided [RCV001564369] Chr9:399361 [GRCh38]
Chr9:399361 [GRCh37]
Chr9:9p24.3		 likely benign
NM_203447.4(DOCK8):c.1797G>A (p.Pro599=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595715] Chr9:368135 [GRCh38]
Chr9:368135 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4457G>A (p.Arg1486His) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763842] Chr9:428480 [GRCh38]
Chr9:428480 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5548C>T (p.Pro1850Ser) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763889]|not provided [RCV002269349] Chr9:443484 [GRCh38]
Chr9:443484 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2654G>A (p.Arg885His) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001240629] Chr9:382561 [GRCh38]
Chr9:382561 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3868G>A (p.Ala1290Thr) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001239547] Chr9:420428 [GRCh38]
Chr9:420428 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2729G>T (p.Gly910Val) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763887] Chr9:382636 [GRCh38]
Chr9:382636 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.400C>T (p.Arg134Trp) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001208844] Chr9:289577 [GRCh38]
Chr9:289577 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4276A>G (p.Ser1426Gly) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763919] Chr9:426919 [GRCh38]
Chr9:426919 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3601C>T (p.Arg1201Cys) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595717] Chr9:414852 [GRCh38]
Chr9:414852 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3123A>C (p.Glu1041Asp) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763879]|Inborn genetic diseases [RCV003373049] Chr9:399148 [GRCh38]
Chr9:399148 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3383C>G (p.Ser1128Cys) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763885] Chr9:405066 [GRCh38]
Chr9:405066 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3508G>A (p.Ala1170Thr) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001222927]|not provided [RCV001751430] Chr9:407047 [GRCh38]
Chr9:407047 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2648A>G (p.Tyr883Cys) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001217830] Chr9:382555 [GRCh38]
Chr9:382555 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2657C>T (p.Thr886Ile) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763850] Chr9:382564 [GRCh38]
Chr9:382564 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1178G>A (p.Arg393His) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001220859] Chr9:334277 [GRCh38]
Chr9:334277 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.3610A>G (p.Lys1204Glu) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763886]|not provided [RCV004695219] Chr9:414861 [GRCh38]
Chr9:414861 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4627-9C>A single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763920] Chr9:432157 [GRCh38]
Chr9:432157 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.1615C>T (p.Arg539Cys) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001238522] Chr9:340257 [GRCh38]
Chr9:340257 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4895A>G (p.Lys1632Arg) single nucleotide variant Combined immunodeficiency due to DOCK8 deficiency [RCV001223366]|not provided [RCV001532630] Chr9:434791 [GRCh38]
Chr9:434791 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.5599T>A (p.Phe1867Ile) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763884] Chr9:446388 [GRCh38]
Chr9:446388 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4241+19T>G single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003770224]|Combined immunodeficiency due to DOCK8 deficiency [RCV001199259] Chr9:422154 [GRCh38]
Chr9:422154 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203447.4(DOCK8):c.6183C>G (p.Ile2061Met) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763839] Chr9:463631 [GRCh38]
Chr9:463631 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.4332T>G (p.Ile1444Met) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763905] Chr9:426975 [GRCh38]
Chr9:426975 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.265GAC[1] (p.Asp90del) microsatellite Autosomal recessive hyper-IgE syndrome [RCV003595719] Chr9:286569..286571 [GRCh38]
Chr9:286569..286571 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_203447.4(DOCK8):c.2607C>T (p.Gly869=) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003595714] Chr9:382514 [GRCh38]
Chr9:382514 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_203447.4(DOCK8):c.3178C>G (p.Leu1060Val) single nucleotide variant Autosomal recessive hyper-IgE syndrome [RCV003763897] Chr9:399203 [GRCh38]
Chr9:399203 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:236176-402280)x3 copy number gain not provided [RCV000846477] Chr9:236176..402280 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:340919-535318)x3