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CVID10
MCID: IMM064
MIFTS: 43

Immunodeficiency, Common Variable, 10 (CVID10)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Immunodeficiency, Common Variable, 10

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MalaCards integrated aliases for Immunodeficiency, Common Variable, 10:

Name: Immunodeficiency, Common Variable, 10 57 72 70
Deficit in Anterior Pituitary Function and Variable Immunodeficiency 57 72
Common Variable Immunodeficiency 10 29 6
Cvid10 57 72
David 57 72
Deficiency in Anterior Pituitary Function-Variable Immunodeficiency Syndrome 58
Deficit in Anterior Pituitary Function and Variable Immunodeficiency; David 57
Immunodeficiency, Common Variable, with Central Adrenal Insufficiency 57
Common Variable Immunodeficiency with Central Adrenal Insufficiency 72
Immunodeficiency, Variable, Common, Type 10 39
David Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
deficiency in anterior pituitary function-variable immunodeficiency syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in childhood
variable manifestations


HPO:

31
immunodeficiency, common variable, 10:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases Blood diseases Immune diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare endocrine diseases
Rare immunological diseases


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Summaries for Immunodeficiency, Common Variable, 10

About this section
OMIM® : 57 Common variable immunodeficiency-10 (CVID10) is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594). (615577) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency, Common Variable, 10, also known as deficit in anterior pituitary function and variable immunodeficiency, is related to mesomelia-synostoses syndrome and dysphagia lusoria. An important gene associated with Immunodeficiency, Common Variable, 10 is NFKB2 (Nuclear Factor Kappa B Subunit 2). The drugs Tramadol and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include pituitary, b cells and thyroid, and related phenotypes are hypotension and fatigue

UniProtKB/Swiss-Prot : 72 Immunodeficiency, common variable, 10: A primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B-cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency.

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Related Diseases for Immunodeficiency, Common Variable, 10

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Diseases related to Immunodeficiency, Common Variable, 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 259)
# Related Disease Score Top Affiliating Genes
1 mesomelia-synostoses syndrome 11.5
2 dysphagia lusoria 10.9
3 spinocerebellar ataxia 7 10.9
4 poland syndrome 10.9
5 mowat-wilson syndrome 10.9
6 severe combined immunodeficiency 10.9
7 oculomotor apraxia 10.9
8 aortic valve insufficiency 10.5
9 aortic dissection 10.4
10 marfan syndrome 10.4
11 endocarditis 10.3
12 prostate cancer 10.3
13 dementia 10.2
14 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
15 bladder cancer 10.1
16 arts syndrome 10.1
17 aneurysm 10.1
18 renal cell carcinoma, nonpapillary 10.0
19 infective endocarditis 10.0
20 covid-19 10.0
21 brucellosis 10.0
22 common variable immunodeficiency 10.0
23 aortic valve disease 1 10.0
24 late-onset retinal degeneration 10.0
25 congestive heart failure 10.0
26 lung disease 10.0
27 immunodeficiency 10 10.0
28 schizophrenia 9.9
29 celiac disease 1 9.9
30 asthma 9.9
31 stroke, ischemic 9.9
32 atrioventricular block 9.9
33 adult respiratory distress syndrome 9.9
34 hyperparathyroidism 9.9
35 agammaglobulinemia 9.9
36 interstitial lung disease 9.9
37 aortic aneurysm 9.9
38 connective tissue disease 9.9
39 hypoglycemia 9.9
40 myoclonus 9.9
41 alcohol dependence 9.8
42 autoimmune disease 9.8
43 cleft palate, isolated 9.8
44 multiple sclerosis 9.8
45 esophageal cancer 9.8
46 fibrosis of extraocular muscles, congenital, 1 9.8
47 pulmonary hypertension, primary, 1 9.8
48 alstrom syndrome 9.8
49 immune deficiency disease 9.8
50 myeloma, multiple 9.8

Graphical network of the top 20 diseases related to Immunodeficiency, Common Variable, 10:



Diseases related to Immunodeficiency, Common Variable, 10
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Symptoms & Phenotypes for Immunodeficiency, Common Variable, 10

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Human phenotypes related to Immunodeficiency, Common Variable, 10:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002615
2 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 recurrent otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000403
4 hyponatremia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002902
5 recurrent pharyngitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100776
6 recurrent pneumonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006532
7 recurrent hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001988
8 recurrent bronchitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002837
9 recurrent sinusitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011108
10 decreased circulating acth level 58 31 hallmark (90%) Very frequent (99-80%) HP:0002920
11 adrenocorticotropin deficient adrenal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0011735
12 hypoglycemic coma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001325
13 severe b lymphocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005365
14 recurrent viral infections 31 hallmark (90%) HP:0004429
15 decreased circulating cortisol level 31 hallmark (90%) HP:0008163
16 decreased circulating antibody level 31 hallmark (90%) HP:0004313
17 nail dystrophy 58 31 occasional (7.5%) Frequent (79-30%) HP:0008404
18 bronchiectasis 58 31 frequent (33%) Frequent (79-30%) HP:0002110
19 abnormal size of pituitary gland 58 31 frequent (33%) Frequent (79-30%) HP:0012504
20 abnormality of the periungual region 58 31 frequent (33%) Frequent (79-30%) HP:0100803
21 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
22 diplopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000651
23 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
24 alopecia 58 31 occasional (7.5%) Frequent (79-30%) HP:0001596
25 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
26 psoriasiform dermatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003765
27 alopecia totalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007418
28 autoimmune thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001973
29 decreased circulating androgen level 58 31 occasional (7.5%) Occasional (29-5%) HP:0030349
30 decreased serum insulin-like growth factor 1 58 31 occasional (7.5%) Occasional (29-5%) HP:0030353
31 trachyonychia 31 occasional (7.5%) HP:0030804
32 decreased response to growth hormone stimuation test 31 occasional (7.5%) HP:0000824
33 generalized non-motor (absence) seizure 31 occasional (7.5%) HP:0002121
34 recurrent respiratory infections 31 HP:0002205
35 hypoglycemia 31 HP:0001943
36 immunodeficiency 31 HP:0002721
37 recurrent upper respiratory tract infections 58 Very frequent (99-80%)
38 vitiligo 58 Excluded (0%)
39 thyroiditis 58 Excluded (0%)
40 decreased antibody level in blood 58 Very frequent (99-80%)
41 asthma 31 HP:0002099
42 hyperkalemia 58 Excluded (0%)
43 growth hormone deficiency 58 Occasional (29-5%)
44 absence seizure 58 Occasional (29-5%)
45 central adrenal insufficiency 31 HP:0011734
46 severe viral infections 58 Very frequent (99-80%)
47 autoimmune antibody positivity 58 Excluded (0%)
48 hypocortisolemia 58 Very frequent (99-80%)
49 abnormality of cells of the lymphoid lineage 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory:
recurrent respiratory infections
asthma

Immunology:
recurrent infections
hypogammaglobulinemia
low levels of memory b cells
autoimmune features (in some patients)
autoantibodies (in some patients)
more
Laboratory Abnormalities:
low serum cortisol
low serum acth
hypoglycemia, intermittent

Skin Nails Hair Hair:
alopecia (in some patients)

Neurologic Central Nervous System:
developmental delay (1 patient)
hypoplastic anterior pituitary (in some patients)

Genitourinary Kidneys:
nephrotic syndrome

Endocrine Features:
central adrenal insufficiency
growth hormone deficiency (1 patient)

Skin Nails Hair Nails:
onychodystrophy (in some patients)
trachyonychia (in some patients)

Skin Nails Hair Skin:
psoriasiform dermatitis (in some patients)

Clinical features from OMIM®:

615577 (Updated 05-Apr-2021)

Sources

Drugs & Therapeutics for Immunodeficiency, Common Variable, 10

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Drugs for Immunodeficiency, Common Variable, 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
2
Acetaminophen Approved Phase 4 103-90-2 1983
3 Analgesics, Non-Narcotic Phase 4
4 Dexketoprofen trometamol Phase 4
5 Analgesics Phase 4
6 Narcotics Phase 4
7 Analgesics, Opioid Phase 4
8 Antirheumatic Agents Phase 4
9 Anti-Inflammatory Agents Phase 4
10 Antipyretics Phase 4
11 Anti-Inflammatory Agents, Non-Steroidal Phase 4
12
Metformin Approved 657-24-9 4091 14219
13
Calcium carbonate Approved, Investigational 471-34-1
14
Hydrocortisone Approved, Vet_approved 50-23-7 5754
15
Hydrocortisone acetate Approved, Vet_approved 50-03-3
16
Sulfamethazine Approved, Investigational, Vet_approved 57-68-1 5327
17 Gastrointestinal Agents
18 Antacids
19 Hormones
20 Hypoglycemic Agents
21 Anti-Ulcer Agents
22 Calcium, Dietary
23 Hydrocortisone hemisuccinate
24 Hydrocortisone 17-butyrate 21-propionate
25 Appetite Depressants
26
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Analgesic Efficacy of Oral Dexketoprofen Trometamol/Tramadol Hydrochloride Versus Tramadol Hydrochloride/Paracetamol: a Randomised, Double-blind, Placebo and Active-controlled, Parallel Group Study in Moderate to Severe Acute Pain After Removal of Impacted Lower Third Molar (Dexketoprofen Analgesic eVolution wIth tramaDol- DAVID Study) Completed NCT02777970 Phase 4 Tramadol Hydrochloride/Dexketoprofen Trometamol;Tramadol Hydrochloride/Paracetamol;Placebo
2 Evaluation of the Metformin Scavenging Mechanism on Methylglyoxal in Patients With Type 2 Diabetes Mellitus Unknown status NCT02548741 Metformin Hydrochloride (500-mg capsule);Calcium carbonate (placebo)
3 Reimplantation Procedure for Surgical Treatment of Ascending Aorta Aneurism With Concomitant Aortic Valve Insufficiency Unknown status NCT01456975
4 Comparison of the Gut Microbiota Composition in Caucasian Hispanic and Caucasian Non-Hispanic Children With and Without Obesity Completed NCT03990350
5 DAVID II (Dual Chamber and VVI Implantable Defibrillator (DAVID) Trial II) Completed NCT00187187
6 Psychological Health, Coping Strategies and Preferences of David Grant USAF Medical Center COVID-19 Deployers: A Critical Needs Assessment Completed NCT04646642
7 Effects of Wise Interventions in Psychophysiological Responses to Stress Completed NCT04786496
8 Factors Influencing Perioperative Mortality in Type A Acute Aortic Dissections Operated at Dijon University Hospital Completed NCT04408404
9 Prevention of Aggressive Behavior in Adolescents by Means of an Intervention Based on Implicit Theories of Personality Completed NCT03583645
10 An Enhanced Nurse Home Visitation Program To Prevent Intimate Partner Violence Completed NCT01811719
11 Superiority Trial of Aortic Root Reimplantation Procedure Versus Aortic Valve Reimplantation Procedure Completed NCT01787604
12 Prevention of Depression and Bullying in Adolescents by Means of an Intervention Based on Implicit Theories of Personality Completed NCT03481699
13 Training Therapy for the Secondary and Tertiary Prevention of Backache and Low Back Pain: A Randomized Controlled Pilot Study Completed NCT03393429
14 Impact of Clinic First Curricular Transformation on Family Medicine Resident Burnout at an Air Force Family Medicine Residency Active, not recruiting NCT04451070
15 Pilot Study Evaluating the Feasibility and Effects of an Innovative Online Automated Hypnosis Intervention for Smoking Cessation Active, not recruiting NCT03931772
16 A Randomized Controlled Trial of Individual Psychosocial Interventions for Cancer Patients Active, not recruiting NCT01323309
17 Neurophysiological and Behavioral Effects of Sensory Flicker and Electrical Flicker Stimulation. Enrolling by invitation NCT04188834
18 Rationale and Design of a Prospective, Open Label, Randomized, Multicentric Clinical Trial: Drug Coated Balloon for Side Branch Treatment vs. Conventional Approach in True Bifurcation Coronary Disease: PRO-DAVID Not yet recruiting NCT04403048
19 The Validity of In-game Performance Measurements or Scores as Indicators of Children's Emotional Regulation Abilities Not yet recruiting NCT04788901
20 Obsessive-compulsive Symptoms in Children and Adolescents With Anorexia Nervosa and Possible Correlation With Weight Changes Not yet recruiting NCT04770662
21 Randomized Controlled Trial of Robotic vs. Laparoscopic Distal Pancreatectomy for Pancreatic Cancer - The DAVID-study Withdrawn NCT02269683

Search NIH Clinical Center for Immunodeficiency, Common Variable, 10

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Genetic Tests for Immunodeficiency, Common Variable, 10

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Genetic tests related to Immunodeficiency, Common Variable, 10:

# Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 10 29 NFKB2
Sources

Anatomical Context for Immunodeficiency, Common Variable, 10

About this section

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 10:

40
Pituitary, B Cells, Thyroid, Nk Cells
Sources

Publications for Immunodeficiency, Common Variable, 10

About this section

Articles related to Immunodeficiency, Common Variable, 10:

(show all 14)
# Title Authors PMID Year
1
Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome. 6 57
31417880 2019
2
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. 6 57
25524009 2014
3
Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100. 6 57
25237204 2014
4
Novel NFKB2 mutation in early-onset CVID. 57 6
24888602 2014
5
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. 57 6
24140114 2013
6
Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections. 6 57
22013103 2012
7
Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2. 6
30941118 2019
8
Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation. 6
29225085 2018
9
Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype. 6
28778864 2017
10
Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease. 6
25605273 2015
11
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. 6
24702956 2014
12
A novel mutation in the Nfkb2 gene generates an NF-kappa B2 "super repressor". 57
18025196 2007
13
beta-TrCP binding and processing of NF-kappaB2/p100 involve its phosphorylation at serines 866 and 870. 6
16303288 2006
14
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes. 61
31468084 2019
Sources

Variations for Immunodeficiency, Common Variable, 10

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ClinVar genetic disease variations for Immunodeficiency, Common Variable, 10:

6 (show top 50) (show all 129)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NFKB2 NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) Deletion Pathogenic 65386 rs397514331 GRCh37: 10:104161901-104161901
GRCh38: 10:102402144-102402144
2 NFKB2 NM_001322934.2(NFKB2):c.2556_2563del (p.Arg853fs) Deletion Pathogenic 155764 rs727502786 GRCh37: 10:104161894-104161901
GRCh38: 10:102402137-102402144
3 NFKB2 NM_001322934.2(NFKB2):c.2594A>G (p.Asp865Gly) SNV Pathogenic 155765 rs727502787 GRCh37: 10:104162024-104162024
GRCh38: 10:102402267-102402267
4 NFKB2 NM_001322934.2(NFKB2):c.2611C>T (p.Gln871Ter) SNV Pathogenic 871139 GRCh37: 10:104162041-104162041
GRCh38: 10:102402284-102402284
5 NFKB2 NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) SNV Pathogenic 65385 rs397514332 GRCh37: 10:104161895-104161895
GRCh38: 10:102402138-102402138
6 NFKB2 NM_001322934.2(NFKB2):c.2571_2575CAGCA[1] (p.Thr859fs) Deletion Likely pathogenic 572397 rs1565214594 GRCh37: 10:104161909-104161913
GRCh38: 10:102402152-102402156
7 NFKB2 NM_001322934.2(NFKB2):c.104-1G>C SNV Likely pathogenic 982877 GRCh37: 10:104156205-104156205
GRCh38: 10:102396448-102396448
8 NFKB2 NM_001322934.2(NFKB2):c.2595_2596del (p.Asp865fs) Deletion Likely pathogenic 935289 GRCh37: 10:104162024-104162025
GRCh38: 10:102402267-102402268
9 NFKB2 NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His) SNV Conflicting interpretations of pathogenicity 541630 rs200227171 GRCh37: 10:104160186-104160186
GRCh38: 10:102400429-102400429
10 NFKB2 NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) SNV Conflicting interpretations of pathogenicity 155766 rs727502788 GRCh37: 10:104162030-104162030
GRCh38: 10:102402273-102402273
11 NFKB2 NM_001322934.2(NFKB2):c.2174G>A (p.Arg725Gln) SNV Uncertain significance 657427 rs374942288 GRCh37: 10:104161039-104161039
GRCh38: 10:102401282-102401282
12 NFKB2 NM_001322934.2(NFKB2):c.2459G>A (p.Ser820Asn) SNV Uncertain significance 846887 GRCh37: 10:104161667-104161667
GRCh38: 10:102401910-102401910
13 NFKB2 NM_001322934.2(NFKB2):c.2067G>A (p.Lys689=) SNV Uncertain significance 508532 rs745876650 GRCh37: 10:104160802-104160802
GRCh38: 10:102401045-102401045
14 NFKB2 NM_001322934.2(NFKB2):c.2479G>A (p.Asp827Asn) SNV Uncertain significance 856435 GRCh37: 10:104161817-104161817
GRCh38: 10:102402060-102402060
15 NFKB2 NM_001322934.2(NFKB2):c.1103G>A (p.Gly368Glu) SNV Uncertain significance 858724 GRCh37: 10:104158607-104158607
GRCh38: 10:102398850-102398850
16 NFKB2 NM_001322934.2(NFKB2):c.2288C>T (p.Pro763Leu) SNV Uncertain significance 859450 GRCh37: 10:104161270-104161270
GRCh38: 10:102401513-102401513
17 NFKB2 NM_001322934.2(NFKB2):c.991+5A>G SNV Uncertain significance 947013 GRCh37: 10:104158285-104158285
GRCh38: 10:102398528-102398528
18 NFKB2 NM_001322934.2(NFKB2):c.1331G>A (p.Arg444Gln) SNV Uncertain significance 954959 GRCh37: 10:104159337-104159337
GRCh38: 10:102399580-102399580
19 NFKB2 NM_001322934.2(NFKB2):c.2249C>G (p.Ala750Gly) SNV Uncertain significance 966797 GRCh37: 10:104161231-104161231
GRCh38: 10:102401474-102401474
20 NFKB2 NM_001322934.2(NFKB2):c.1051G>A (p.Gly351Arg) SNV Uncertain significance 932328 GRCh37: 10:104158555-104158555
GRCh38: 10:102398798-102398798
21 NFKB2 NM_001322934.2(NFKB2):c.2464G>A (p.Glu822Lys) SNV Uncertain significance 1000283 GRCh37: 10:104161672-104161672
GRCh38: 10:102401915-102401915
22 NFKB2 NM_001322934.2(NFKB2):c.438G>A (p.Met146Ile) SNV Uncertain significance 1000962 GRCh37: 10:104157101-104157101
GRCh38: 10:102397344-102397344
23 NFKB2 NM_001322934.2(NFKB2):c.1699_1734dup (p.Ala567_Leu578dup) Duplication Uncertain significance 1005790 GRCh37: 10:104160145-104160146
GRCh38: 10:102400388-102400389
24 NFKB2 NM_001322934.2(NFKB2):c.2431A>G (p.Thr811Ala) SNV Uncertain significance 1006434 GRCh37: 10:104161639-104161639
GRCh38: 10:102401882-102401882
25 NFKB2 NM_001322934.2(NFKB2):c.662A>G (p.Lys221Arg) SNV Uncertain significance 1006763 GRCh37: 10:104157738-104157738
GRCh38: 10:102397981-102397981
26 NFKB2 NM_001322934.2(NFKB2):c.1183A>C (p.Met395Leu) SNV Uncertain significance 1008266 GRCh37: 10:104159110-104159110
GRCh38: 10:102399353-102399353
27 NFKB2 NM_001322934.2(NFKB2):c.1524C>G (p.Val508=) SNV Uncertain significance 1009093 GRCh37: 10:104159891-104159891
GRCh38: 10:102400134-102400134
28 NFKB2 NM_001322934.2(NFKB2):c.2285G>A (p.Ser762Asn) SNV Uncertain significance 1010164 GRCh37: 10:104161267-104161267
GRCh38: 10:102401510-102401510
29 NFKB2 NM_001322934.2(NFKB2):c.1163A>G (p.Tyr388Cys) SNV Uncertain significance 646480 rs758025082 GRCh37: 10:104159090-104159090
GRCh38: 10:102399333-102399333
30 NFKB2 NM_001322934.2(NFKB2):c.1214C>T (p.Ala405Val) SNV Uncertain significance 841570 GRCh37: 10:104159141-104159141
GRCh38: 10:102399384-102399384
31 NFKB2 NM_001322934.2(NFKB2):c.85G>C (p.Glu29Gln) SNV Uncertain significance 848557 GRCh37: 10:104156073-104156073
GRCh38: 10:102396316-102396316
32 NFKB2 NM_001322934.2(NFKB2):c.924A>G (p.Gln308=) SNV Uncertain significance 849632 GRCh37: 10:104158213-104158213
GRCh38: 10:102398456-102398456
33 NFKB2 NM_001322934.2(NFKB2):c.1692G>A (p.Met564Ile) SNV Uncertain significance 849871 GRCh37: 10:104160142-104160142
GRCh38: 10:102400385-102400385
34 NFKB2 NM_001322934.2(NFKB2):c.1772A>T (p.Gln591Leu) SNV Uncertain significance 852089 GRCh37: 10:104160222-104160222
GRCh38: 10:102400465-102400465
35 NFKB2 NM_001322934.2(NFKB2):c.766+1G>A SNV Uncertain significance 950292 GRCh37: 10:104157843-104157843
GRCh38: 10:102398086-102398086
36 NFKB2 NM_001322934.2(NFKB2):c.1904G>A (p.Arg635Gln) SNV Uncertain significance 962421 GRCh37: 10:104160517-104160517
GRCh38: 10:102400760-102400760
37 NFKB2 NM_001322934.2(NFKB2):c.4G>A (p.Glu2Lys) SNV Uncertain significance 965793 GRCh37: 10:104155720-104155720
GRCh38: 10:102395963-102395963
38 NFKB2 NM_001322934.2(NFKB2):c.892A>T (p.Lys298Ter) SNV Uncertain significance 1015809 GRCh37: 10:104158181-104158181
GRCh38: 10:102398424-102398424
39 NFKB2 NM_001322934.2(NFKB2):c.1137C>A (p.Phe379Leu) SNV Uncertain significance 1021917 GRCh37: 10:104159064-104159064
GRCh38: 10:102399307-102399307
40 NFKB2 NM_001322934.2(NFKB2):c.673dup (p.Ala225fs) Duplication Uncertain significance 1022376 GRCh37: 10:104157744-104157745
GRCh38: 10:102397987-102397988
41 NFKB2 NM_001322934.2(NFKB2):c.1865G>C (p.Ser622Thr) SNV Uncertain significance 1024975 GRCh37: 10:104160478-104160478
GRCh38: 10:102400721-102400721
42 NFKB2 NM_001322934.2(NFKB2):c.1097G>A (p.Gly366Asp) SNV Uncertain significance 474773 rs747854969 GRCh37: 10:104158601-104158601
GRCh38: 10:102398844-102398844
43 NFKB2 NM_001322934.2(NFKB2):c.2001G>A (p.Ala667=) SNV Uncertain significance 572679 rs944124507 GRCh37: 10:104160736-104160736
GRCh38: 10:102400979-102400979
44 NFKB2 NM_001322934.2(NFKB2):c.1262C>T (p.Ala421Val) SNV Uncertain significance 579056 rs780831146 GRCh37: 10:104159189-104159189
GRCh38: 10:102399432-102399432
45 NFKB2 NM_001322934.2(NFKB2):c.2186G>A (p.Arg729Gln) SNV Uncertain significance 647295 rs201099063 GRCh37: 10:104161051-104161051
GRCh38: 10:102401294-102401294
46 NFKB2 NM_001322934.2(NFKB2):c.2597G>A (p.Ser866Asn) SNV Uncertain significance 656331 rs1565215008 GRCh37: 10:104162027-104162027
GRCh38: 10:102402270-102402270
47 NFKB2 NM_001322934.2(NFKB2):c.472C>T (p.Arg158Trp) SNV Uncertain significance 850730 GRCh37: 10:104157135-104157135
GRCh38: 10:102397378-102397378
48 NFKB2 NM_001322934.2(NFKB2):c.1242G>C (p.Arg414Ser) SNV Uncertain significance 852676 GRCh37: 10:104159169-104159169
GRCh38: 10:102399412-102399412
49 NFKB2 NM_001322934.2(NFKB2):c.742C>G (p.Leu248Val) SNV Uncertain significance 864159 GRCh37: 10:104157818-104157818
GRCh38: 10:102398061-102398061
50 NFKB2 NM_001322934.2(NFKB2):c.2122C>G (p.Pro708Ala) SNV Uncertain significance 955398 GRCh37: 10:104160987-104160987
GRCh38: 10:102401230-102401230
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Expression for Immunodeficiency, Common Variable, 10

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Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 10.
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Pathways for Immunodeficiency, Common Variable, 10

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GO Terms for Immunodeficiency, Common Variable, 10

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Sources for Immunodeficiency, Common Variable, 10

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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