CIITA (class II major histocompatibility complex transactivator) - Rat Genome Database

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Gene: CIITA (class II major histocompatibility complex transactivator) Homo sapiens
Analyze
Symbol: CIITA
Name: class II major histocompatibility complex transactivator
RGD ID: 1348941
HGNC Page HGNC:7067
Description: Enables DNA-binding transcription factor binding activity and transcription cis-regulatory region binding activity. Involved in several processes, including positive regulation of MHC class I biosynthetic process; regulation of transcription by RNA polymerase II; and response to type II interferon. Acts upstream of or within response to antibiotic. Located in PML body and cytosol. Implicated in Addison's disease; MHC class II deficiency; autoimmune disease (multiple); and myocardial infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C2TA; CIITAIV; class II, major histocompatibility complex, transactivator; MHC class II transactivator; MHC class II transactivator type I; MHC class II transactivator type III; MHC2TA; NLR family, acid domain containing; NLRA; nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381610,866,206 - 10,943,021 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1610,866,222 - 10,943,021 (+)EnsemblGRCh38hg38GRCh38
GRCh371610,971,055 - 11,030,251 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361610,878,556 - 10,926,341 (+)NCBINCBI36Build 36hg18NCBI36
Build 341610,878,539 - 10,933,676NCBI
Celera1611,140,481 - 11,188,432 (+)NCBICelera
Cytogenetic Map16p13.13NCBI
HuRef1610,888,898 - 10,936,424 (+)NCBIHuRef
CHM1_11610,970,985 - 11,018,760 (+)NCBICHM1_1
T2T-CHM13v2.01610,902,173 - 10,978,992 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
capsaicin  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
Cuprizon  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
diarsenic trioxide  (EXP)
dichloromethane  (ISO)
dimethyl fumarate  (EXP)
dimethylarsinic acid  (ISO)
ethylbenzene  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
lipopolysaccharide  (EXP)
manganese(II) chloride  (ISO)
melphalan  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
nevirapine  (EXP)
nickel atom  (EXP)
Nor-9-carboxy-delta9-THC  (EXP)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
pyrethrins  (ISO)
ritonavir  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
simvastatin  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
T-2 toxin  (ISO)
tamibarotene  (EXP)
testosterone  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
verapamil  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell surface  (IEA,ISO)
cytosol  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IEA)
PML body  (IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal CD4:CD8 ratio  (IAGP)
Abnormal facial shape  (IAGP)
Abnormality of humoral immunity  (IAGP)
Acute otitis media  (IAGP)
Agammaglobulinemia  (IAGP)
Anti-citrullinated protein antibody positivity  (IAGP)
Arthralgia  (IAGP)
Autoimmune hemolytic anemia  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Autoimmunity  (IAGP)
Autosomal recessive inheritance  (IAGP)
Biliary tract abnormality  (IAGP)
Cholangitis  (IAGP)
Chronic hepatitis due to cryptosporidium infection  (IAGP)
Chronic lymphocytic meningitis  (IAGP)
Chronic mucocutaneous candidiasis  (IAGP)
Colitis  (IAGP)
Cutaneous anergy  (IAGP)
Decreased circulating antibody level  (IAGP)
Decreased circulating beta-2-microglobulin level  (IAGP)
Decreased inflammatory response  (IAGP)
Decreased lymphocyte proliferation in response to mitogen  (IAGP)
Decreased proportion of CD4-positive helper T cells  (IAGP)
Diarrhea  (IAGP)
Digital flexor tenosynovitis  (IAGP)
Dysarthria  (IAGP)
Elevated circulating C-reactive protein concentration  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Gait ataxia  (IAGP)
Hematochezia  (IAGP)
Increased inflammatory response  (IAGP)
Infectious encephalitis  (IAGP)
Inflammation of the large intestine  (IAGP)
Interphalangeal joint erosions  (IAGP)
Joint stiffness  (IAGP)
Joint swelling  (IAGP)
Lack of T cell function  (IAGP)
Malabsorption  (IAGP)
Neutropenia  (IAGP)
Neutropenia in presence of anti-neutropil antibodies  (IAGP)
Pancytopenia  (IAGP)
Panhypogammaglobulinemia  (IAGP)
Polyarticular arthritis  (IAGP)
Protracted diarrhea  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent candida infections  (IAGP)
Recurrent fungal infections  (IAGP)
Recurrent herpes  (IAGP)
Recurrent infection of the gastrointestinal tract  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent protozoan infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent Staphylococcus aureus infections  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Recurrent viral infections  (IAGP)
Reduced MHC II surface expression  (IAGP)
Rheumatoid arthritis  (IAGP)
Rheumatoid factor positive  (IAGP)
Rhinitis  (IAGP)
Sclerosing cholangitis  (IAGP)
Sinusitis  (IAGP)
Skin rash  (IAGP)
Swan neck-like deformities of the fingers  (IAGP)
T lymphocytopenia  (IAGP)
Thrombocytopenia  (IAGP)
Vasculitis  (IAGP)
Villous atrophy  (IAGP)
Viral hepatitis  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Promoter polymorphism rs3087456 in the MHC class II transactivator gene is not associated with susceptibility for selected autoimmune diseases in German patient groups. Akkad DA, etal., Int J Immunogenet. 2006 Feb;33(1):59-61.
2. Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A. Bontron S, etal., Hum Genet. 1997 Apr;99(4):541-6.
3. Successful treatment of experimental autoimmune myocarditis by adenovirus-mediated gene transfer of antisense CIITA. Cai G, etal., J Mol Cell Cardiol. 2005 Apr;38(4):593-605.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Vra4 congenic rats with allelic differences in the class II transactivator gene display altered susceptibility to experimental autoimmune encephalomyelitis. Harnesk K, etal., J Immunol. 2008 Mar 1;180(5):3289-96.
6. Overexpression of CIITA in T cells aggravates Th2-mediated colitis in mice. Kim TW, etal., J Korean Med Sci. 2006 Oct;21(5):877-82.
7. Single nucleotide polymorphisms in the gene encoding the major histocompatibility complex class II transactivator (CIITA) in systemic lupus erythematosus. Koizumi K, etal., Ann Rheum Dis. 2005 Jun;64(6):947-50.
8. Major histocompatibility complex class II transactivator inhibits cysteine-rich 61 expression in osteoblastic cells and its implication in the pathogenesis of periapical lesions. Lee YL, etal., J Endod. 2010 Jun;36(6):1021-5. doi: 10.1016/j.joen.2010.03.009. Epub 2010 Apr 21.
9. Polymorphism in the MHC2TA gene is associated with features of the metabolic syndrome and cardiovascular mortality. Lindholm E, etal., PLoS One. 2006 Dec 20;1:e64.
10. A polymorphic variant in the MHC2TA gene is not associated with systemic lupus erythematosus. Linga-Reddy MV, etal., Tissue Antigens. 2007 Nov;70(5):412-4. Epub 2007 Aug 17.
11. Chromosomal region 16p13: further evidence of increased predisposition to immune diseases. Martinez A, etal., Ann Rheum Dis. 2010 Jan;69(1):309-11. Epub .
12. The MHC2TA-168A/G and +1614G/C polymorphisms and risk for multiple sclerosis or chronic inflammatory arthropathies. O'Doherty C, etal., Tissue Antigens. 2007 Sep;70(3):247-51.
13. Protective effect of A at position - 168 in the type III promoter of the MHCIITA gene in systemic lupus erythematosus. Okamoto H, etal., Ann Rheum Dis. 2007 Sep;66(9):1263-4.
14. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
15. Susceptibility of mice deficient in the MHC class II transactivator to infection with Mycobacterium tuberculosis. Repique CJ, etal., Scand J Immunol. 2003 Jul;58(1):15-22.
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. In vivo class II transactivator expression in mice is induced by a non-interferon-gamma mechanism in response to local injury. Sims TN, etal., Transplantation. 1997 Dec 27;64(12):1657-64.
20. Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency. Skinningsrud B, etal., J Clin Endocrinol Metab. 2008 Sep;93(9):3310-7. Epub 2008 Jul 1.
21. MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. Swanberg M, etal., Nat Genet 2005 May;37(5):486-94. Epub 2005 Apr 10.
22. Differential usage of class II transactivator promoters PI and PIV during inflammation and injury in kidney. Takeuchi O, etal., J Am Soc Nephrol. 2003 Nov;14(11):2823-32.
23. Mutation in the class II trans-activator leading to a mild immunodeficiency. Wiszniewski W, etal., J Immunol. 2001 Aug 1;167(3):1787-94.
24. Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex. Zuvich RL, etal., Hum Mol Genet. 2011 Sep 1;20(17):3517-24. Epub 2011 Jun 8.
Additional References at PubMed
PMID:107465   PMID:1007865   PMID:1008718   PMID:7749984   PMID:8402893   PMID:8537130   PMID:8717517   PMID:9039770   PMID:9171108   PMID:9177216   PMID:9177217   PMID:9184229  
PMID:9551976   PMID:10464099   PMID:10501838   PMID:10644363   PMID:10661406   PMID:10938133   PMID:11003667   PMID:11046145   PMID:11118314   PMID:11416140   PMID:11463838   PMID:11514574  
PMID:11774613   PMID:11777970   PMID:11792431   PMID:11857059   PMID:11862382   PMID:11953317   PMID:11978778   PMID:11981818   PMID:12052885   PMID:12072194   PMID:12077331   PMID:12218128  
PMID:12355430   PMID:12374747   PMID:12391222   PMID:12391224   PMID:12477932   PMID:12517958   PMID:12697811   PMID:12748124   PMID:12859996   PMID:12883198   PMID:12884309   PMID:12919287  
PMID:12933903   PMID:14525769   PMID:14528304   PMID:14563641   PMID:14973505   PMID:15100295   PMID:15162420   PMID:15210796   PMID:15242870   PMID:15247294   PMID:15247301   PMID:15326139  
PMID:15467734   PMID:15502823   PMID:15528357   PMID:15682480   PMID:15771576   PMID:15788405   PMID:15876426   PMID:15950283   PMID:15964851   PMID:16254053   PMID:16600381   PMID:16776848  
PMID:16849401   PMID:16920747   PMID:16996793   PMID:17012290   PMID:17075826   PMID:17133579   PMID:17222823   PMID:17300840   PMID:17493635   PMID:17611194   PMID:17620097   PMID:17623662  
PMID:17678724   PMID:17875550   PMID:17919972   PMID:17956914   PMID:17991736   PMID:18209080   PMID:18215421   PMID:18226342   PMID:18245089   PMID:18349319   PMID:18398440   PMID:18437201  
PMID:18630461   PMID:18982019   PMID:19041327   PMID:19081173   PMID:19104823   PMID:19201831   PMID:19229048   PMID:19317741   PMID:19358337   PMID:19523152   PMID:19567623   PMID:19578796  
PMID:19605748   PMID:19659749   PMID:19660582   PMID:19814686   PMID:19853614   PMID:19897249   PMID:19913121   PMID:20078946   PMID:20190752   PMID:20211854   PMID:20228799   PMID:20230522  
PMID:20351748   PMID:20378664   PMID:20379614   PMID:20538595   PMID:20585587   PMID:20628086   PMID:20634887   PMID:20639463   PMID:20942939   PMID:21041720   PMID:21215072   PMID:21216962  
PMID:21248776   PMID:21368758   PMID:21458073   PMID:21614020   PMID:21664896   PMID:21670739   PMID:21736733   PMID:21813598   PMID:21873635   PMID:21890893   PMID:21940994   PMID:21989738  
PMID:22461888   PMID:22513452   PMID:22532676   PMID:22563434   PMID:23007646   PMID:23009575   PMID:23021357   PMID:23052709   PMID:23133532   PMID:23292525   PMID:23489895   PMID:23511026  
PMID:23566228   PMID:23777927   PMID:23789844   PMID:24036077   PMID:24055710   PMID:24204280   PMID:24333266   PMID:24430172   PMID:24625964   PMID:24673430   PMID:24789686   PMID:25011449  
PMID:25461408   PMID:25753668   PMID:25765819   PMID:25815463   PMID:25862816   PMID:25992516   PMID:26049756   PMID:26181363   PMID:26283540   PMID:26350270   PMID:26439834   PMID:26485645  
PMID:26500140   PMID:26549456   PMID:26653871   PMID:26792751   PMID:26871568   PMID:27089879   PMID:27105023   PMID:27221978   PMID:27436580   PMID:27720955   PMID:27765819   PMID:28100790  
PMID:28286521   PMID:28555140   PMID:29238041   PMID:29385169   PMID:30716531   PMID:31417570   PMID:31665637   PMID:31870593   PMID:31969878   PMID:32103629   PMID:32853948   PMID:32855215  
PMID:33499042   PMID:33754173   PMID:34180145   PMID:35835655   PMID:36179686   PMID:36223747   PMID:37108368   PMID:37467968   PMID:38073129  


Genomics

Comparative Map Data
CIITA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381610,866,206 - 10,943,021 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1610,866,222 - 10,943,021 (+)EnsemblGRCh38hg38GRCh38
GRCh371610,971,055 - 11,030,251 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361610,878,556 - 10,926,341 (+)NCBINCBI36Build 36hg18NCBI36
Build 341610,878,539 - 10,933,676NCBI
Celera1611,140,481 - 11,188,432 (+)NCBICelera
Cytogenetic Map16p13.13NCBI
HuRef1610,888,898 - 10,936,424 (+)NCBIHuRef
CHM1_11610,970,985 - 11,018,760 (+)NCBICHM1_1
T2T-CHM13v2.01610,902,173 - 10,978,992 (+)NCBIT2T-CHM13v2.0
Ciita
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391610,297,877 - 10,348,928 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1610,297,923 - 10,346,282 (+)EnsemblGRCm39 Ensembl
GRCm381610,480,014 - 10,531,064 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1610,480,059 - 10,528,418 (+)EnsemblGRCm38mm10GRCm38
MGSCv371610,488,372 - 10,527,657 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361610,401,857 - 10,441,142 (+)NCBIMGSCv36mm8
Celera1611,120,578 - 11,160,248 (+)NCBICelera
Cytogenetic Map16A1NCBI
cM Map165.65NCBI
Ciita
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8105,646,854 - 5,694,393 (-)NCBIGRCr8
mRatBN7.2105,139,947 - 5,187,493 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl105,140,178 - 5,187,440 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx109,836,592 - 9,883,847 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0109,357,706 - 9,404,970 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0104,995,977 - 5,043,240 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0105,212,621 - 5,260,641 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl105,213,350 - 5,260,608 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0104,036,437 - 4,083,966 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4105,087,174 - 5,133,418 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1105,087,173 - 5,133,418 (-)NCBI
Celera104,158,435 - 4,205,434 (-)NCBICelera
Cytogenetic Map10q11NCBI
Ciita
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554427,603,893 - 7,647,624 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554427,600,903 - 7,647,619 (-)NCBIChiLan1.0ChiLan1.0
CIITA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21811,426,662 - 11,492,167 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11615,201,913 - 15,267,425 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0169,819,440 - 9,885,379 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11611,041,434 - 11,090,485 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1611,041,434 - 11,090,485 (+)Ensemblpanpan1.1panPan2
CIITA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1631,774,486 - 31,837,025 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl631,774,609 - 31,836,820 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha633,156,962 - 33,219,510 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0631,956,967 - 32,019,399 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl631,956,967 - 31,996,000 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1631,770,183 - 31,832,926 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0631,644,456 - 31,706,901 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0632,068,973 - 32,131,721 (-)NCBIUU_Cfam_GSD_1.0
Ciita
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344111,196,647 - 111,229,034 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365309,033,510 - 9,073,341 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CIITA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl332,172,214 - 32,230,780 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1332,171,706 - 32,230,775 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2333,109,119 - 33,117,697 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CIITA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1510,341,690 - 10,401,988 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl510,372,344 - 10,400,451 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606819,764,657 - 19,814,384 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ciita
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248248,116,537 - 8,153,482 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248248,099,877 - 8,156,661 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CIITA
1596 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000246.4(CIITA):c.1791C>T (p.Leu597=) single nucleotide variant MHC class II deficiency [RCV001494596] Chr16:10907283 [GRCh38]
Chr16:11001140 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2343G>A (p.Ser781=) single nucleotide variant MHC class II deficiency [RCV000526330] Chr16:10907835 [GRCh38]
Chr16:11001692 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.520G>A (p.Gly174Arg) single nucleotide variant MHC class II deficiency [RCV000545058] Chr16:10902076 [GRCh38]
Chr16:10995933 [GRCh37]
Chr16:16p13.13		 benign
CIITA, IVS13DS, G-A, +1 single nucleotide variant Bare lymphocyte syndrome type 2, complementation group A [RCV000010148] Chr16:16p13 pathogenic
NM_000246.4(CIITA):c.3317+1G>A single nucleotide variant Bare lymphocyte syndrome type 2, complementation group A [RCV000010150] Chr16:10922491 [GRCh38]
Chr16:11016348 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2063G>A (p.Trp688Ter) single nucleotide variant Bare lymphocyte syndrome type 2, complementation group A [RCV000010151]|MHC class II deficiency [RCV003522919] Chr16:10907555 [GRCh38]
Chr16:11001412 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2890_2969+1del deletion Bare lymphocyte syndrome type 2, complementation group A [RCV000010152] Chr16:10915570..10915650 [GRCh38]
Chr16:11009427..11009507 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.3080_3082del (p.Ile1027del) deletion Bare lymphocyte syndrome type 2, complementation group A [RCV000010153] Chr16:10918455..10918457 [GRCh38]
Chr16:11012312..11012314 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.3(CIITA):c.-286G= single nucleotide variant Rheumatoid arthritis [RCV000010154] Chr16:10877045 [GRCh38]
Chr16:10970902 [GRCh37]
Chr16:16p13.13		 risk factor
NM_000246.4(CIITA):c.2103C>T (p.Ala701=) single nucleotide variant MHC class II deficiency [RCV001494087] Chr16:10907595 [GRCh38]
Chr16:11001452 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1141G>T (p.Glu381Ter) single nucleotide variant Bare lymphocyte syndrome type 2, complementation group A [RCV000010149] Chr16:10906633 [GRCh38]
Chr16:11000490 [GRCh37]
Chr16:16p13.13		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
NM_000246.3(CIITA):c.660G>A (p.Leu220=) single nucleotide variant Malignant melanoma [RCV000070982] Chr16:10902689 [GRCh38]
Chr16:10996546 [GRCh37]
Chr16:10904047 [NCBI36]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.2396G>A (p.Gly799Glu) single nucleotide variant MHC class II deficiency [RCV003014525] Chr16:10907888 [GRCh38]
Chr16:11001745 [GRCh37]
Chr16:10909246 [NCBI36]
Chr16:16p13.13		 uncertain significance|not provided
NM_000246.3(CIITA):c.-696C>T single nucleotide variant not provided [RCV000089213] Chr16:10876635 [GRCh38]
Chr16:10970492 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.3(CIITA):c.-521A>G single nucleotide variant not provided [RCV000089214] Chr16:10876810 [GRCh38]
Chr16:10970667 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.3(CIITA):c.-479C>T single nucleotide variant not provided [RCV000089215] Chr16:10876852 [GRCh38]
Chr16:10970709 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.3(CIITA):c.-415C>T single nucleotide variant not provided [RCV000089216] Chr16:10876916 [GRCh38]
Chr16:10970773 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.3(CIITA):c.-168G>A single nucleotide variant not provided [RCV000089217] Chr16:10877163 [GRCh38]
Chr16:10971020 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.1007-54C>T single nucleotide variant not provided [RCV000089251] Chr16:10906445 [GRCh38]
Chr16:11000302 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.1007-94A>G single nucleotide variant not provided [RCV000089252] Chr16:10906405 [GRCh38]
Chr16:11000262 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.1230G>A (p.Pro410=) single nucleotide variant MHC class II deficiency [RCV000262587]|not provided [RCV000089253] Chr16:10906722 [GRCh38]
Chr16:11000579 [GRCh37]
Chr16:16p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000246.4(CIITA):c.1684G>A (p.Ala562Thr) single nucleotide variant MHC class II deficiency [RCV000706978]|not provided [RCV000089254] Chr16:10907176 [GRCh38]
Chr16:11001033 [GRCh37]
Chr16:16p13.13		 uncertain significance|not provided
NM_000246.4(CIITA):c.1957C>A (p.Pro653Thr) single nucleotide variant MHC class II deficiency [RCV001053944]|not provided [RCV000089255] Chr16:10907449 [GRCh38]
Chr16:11001306 [GRCh37]
Chr16:16p13.13		 uncertain significance|not provided
NM_000246.4(CIITA):c.207C>G (p.Asp69Glu) single nucleotide variant MHC class II deficiency [RCV002515786]|not provided [RCV000089256] Chr16:10895676 [GRCh38]
Chr16:10989533 [GRCh37]
Chr16:16p13.13		 uncertain significance|not provided
NM_000246.4(CIITA):c.2356C>A (p.Gln786Lys) single nucleotide variant MHC class II deficiency [RCV000538896]|not provided [RCV000089257] Chr16:10907848 [GRCh38]
Chr16:11001705 [GRCh37]
Chr16:16p13.13		 uncertain significance|not provided
NM_000246.4(CIITA):c.2657+107C>A single nucleotide variant not provided [RCV000089258] Chr16:10908256 [GRCh38]
Chr16:11002113 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.2658-138G>A single nucleotide variant not provided [RCV000089259] Chr16:10908891 [GRCh38]
Chr16:11002748 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.2658-149G>T single nucleotide variant not provided [RCV000089260] Chr16:10908880 [GRCh38]
Chr16:11002737 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.2816+188T>G single nucleotide variant not provided [RCV000089261] Chr16:10909375 [GRCh38]
Chr16:11003232 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.2945C>T (p.Ala982Val) single nucleotide variant not provided [RCV000089262] Chr16:10915626 [GRCh38]
Chr16:11009483 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.3063-163T>C single nucleotide variant not provided [RCV000089263] Chr16:10918277 [GRCh38]
Chr16:11012134 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.3149+224C>G single nucleotide variant not provided [RCV000089264] Chr16:10918750 [GRCh38]
Chr16:11012607 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.3150-77A>C single nucleotide variant not provided [RCV000089265] Chr16:10922090 [GRCh38]
Chr16:11015947 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.3318-176C>T single nucleotide variant not provided [RCV000089266] Chr16:10923052 [GRCh38]
Chr16:11016909 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.359-23G>T single nucleotide variant not provided [RCV000089267] Chr16:10898902 [GRCh38]
Chr16:10992759 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.481+167G>A single nucleotide variant not provided [RCV000089268] Chr16:10901725 [GRCh38]
Chr16:10995582 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.482-162C>T single nucleotide variant not provided [RCV000089269] Chr16:10901876 [GRCh38]
Chr16:10995733 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.52+9G>A single nucleotide variant MHC class II deficiency [RCV001081061]|not provided [RCV000089270] Chr16:10877391 [GRCh38]
Chr16:10971248 [GRCh37]
Chr16:16p13.13		 likely benign|not provided
NM_000246.4(CIITA):c.580G>A (p.Glu194Lys) single nucleotide variant not provided [RCV000089271] Chr16:10902136 [GRCh38]
Chr16:10995993 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.628+84G>A single nucleotide variant not provided [RCV000089272] Chr16:10902268 [GRCh38]
Chr16:10996125 [GRCh37]
Chr16:16p13.13		 not provided
NM_000246.4(CIITA):c.2046C>A (p.Ser682=) single nucleotide variant MHC class II deficiency [RCV001493819] Chr16:10907538 [GRCh38]
Chr16:11001395 [GRCh37]
Chr16:16p13.13		 likely benign
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.13(chr16:10778551-11374173)x3 copy number gain See cases [RCV000137607] Chr16:10778551..11374173 [GRCh38]
Chr16:10872408..11468030 [GRCh37]
Chr16:10779909..11375531 [NCBI36]
Chr16:16p13.13		 likely benign
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu) single nucleotide variant MHC class II deficiency [RCV000300420]|MHC class II deficiency [RCV002480138] Chr16:10907588 [GRCh38]
Chr16:11001445 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1518G>A (p.Ala506=) single nucleotide variant MHC class II deficiency [RCV000283889] Chr16:10907010 [GRCh38]
Chr16:11000867 [GRCh37]
Chr16:16p13.13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.1376C>T (p.Pro459Leu) single nucleotide variant MHC class II deficiency [RCV000268121] Chr16:10906868 [GRCh38]
Chr16:11000725 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.384C>T (p.Ile128=) single nucleotide variant MHC class II deficiency [RCV000285263] Chr16:10898950 [GRCh38]
Chr16:10992807 [GRCh37]
Chr16:16p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.2345T>C (p.Val782Ala) single nucleotide variant MHC class II deficiency [RCV000266523]|not specified [RCV000454423] Chr16:10907837 [GRCh38]
Chr16:11001694 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.3149+11C>T single nucleotide variant MHC class II deficiency [RCV000304278] Chr16:10918537 [GRCh38]
Chr16:11012394 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.*125C>T single nucleotide variant MHC class II deficiency [RCV000269887]|MHC class II deficiency [RCV002487398] Chr16:10923980 [GRCh38]
Chr16:11017837 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*157C>T single nucleotide variant MHC class II deficiency [RCV000325125] Chr16:10924012 [GRCh38]
Chr16:11017869 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.1542G>A (p.Thr514=) single nucleotide variant MHC class II deficiency [RCV000348120] Chr16:10907034 [GRCh38]
Chr16:11000891 [GRCh37]
Chr16:16p13.13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.2620G>T (p.Gly874Trp) single nucleotide variant MHC class II deficiency [RCV000288120] Chr16:10908112 [GRCh38]
Chr16:11001969 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2472C>T (p.His824=) single nucleotide variant CIITA-related condition [RCV003922333]|MHC class II deficiency [RCV000327692] Chr16:10907964 [GRCh38]
Chr16:11001821 [GRCh37]
Chr16:16p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=) single nucleotide variant MHC class II deficiency [RCV000289526] Chr16:10907223 [GRCh38]
Chr16:11001080 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) single nucleotide variant MHC class II deficiency [RCV000352360]|MHC class II deficiency [RCV002487397] Chr16:10908143 [GRCh38]
Chr16:11002000 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2421G>T (p.Leu807=) single nucleotide variant MHC class II deficiency [RCV000272572]|not provided [RCV001824730]|not specified [RCV000455851] Chr16:10907913 [GRCh38]
Chr16:11001770 [GRCh37]
Chr16:16p13.13		 benign|not provided
NM_000246.4(CIITA):c.492C>G (p.Pro164=) single nucleotide variant MHC class II deficiency [RCV000309745] Chr16:10902048 [GRCh38]
Chr16:10995905 [GRCh37]
Chr16:16p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.-46G>A single nucleotide variant MHC class II deficiency [RCV000292598] Chr16:10877285 [GRCh38]
Chr16:10971142 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.2699A>G (p.Gln900Arg) single nucleotide variant MHC class II deficiency [RCV000292677]|not provided [RCV001824732]|not specified [RCV000455801] Chr16:10909070 [GRCh38]
Chr16:11002927 [GRCh37]
Chr16:16p13.13		 benign|not provided
NM_000246.4(CIITA):c.772+8C>T single nucleotide variant CIITA-related condition [RCV003950081]|MHC class II deficiency [RCV000406701] Chr16:10902809 [GRCh38]
Chr16:10996666 [GRCh37]
Chr16:16p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.1006+12G>A single nucleotide variant MHC class II deficiency [RCV000275429] Chr16:10904824 [GRCh38]
Chr16:10998681 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.*927G>A single nucleotide variant MHC class II deficiency [RCV000275538] Chr16:10924782 [GRCh38]
Chr16:11018639 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3171C>T (p.Cys1057=) single nucleotide variant MHC class II deficiency [RCV000359080] Chr16:10922188 [GRCh38]
Chr16:11016045 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.*203C>T single nucleotide variant MHC class II deficiency [RCV000275966] Chr16:10924058 [GRCh38]
Chr16:11017915 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*465G>A single nucleotide variant MHC class II deficiency [RCV000278755]|MHC class II deficiency [RCV002494993] Chr16:10924320 [GRCh38]
Chr16:11018177 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1973C>G (p.Ala658Gly) single nucleotide variant MHC class II deficiency [RCV000314222] Chr16:10907465 [GRCh38]
Chr16:11001322 [GRCh37]
Chr16:16p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000246.4(CIITA):c.2709G>A (p.Gly903=) single nucleotide variant MHC class II deficiency [RCV000338335] Chr16:10909080 [GRCh38]
Chr16:11002937 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.2676G>A (p.Thr892=) single nucleotide variant MHC class II deficiency [RCV000388213]|not provided [RCV001824731]|not specified [RCV000455131] Chr16:10909047 [GRCh38]
Chr16:11002904 [GRCh37]
Chr16:16p13.13		 benign|not provided
NM_000246.4(CIITA):c.2286C>A (p.Ile762=) single nucleotide variant MHC class II deficiency [RCV000260603] Chr16:10907778 [GRCh38]
Chr16:11001635 [GRCh37]
Chr16:16p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000246.4(CIITA):c.2331G>T (p.Ser777=) single nucleotide variant MHC class II deficiency [RCV000297101] Chr16:10907823 [GRCh38]
Chr16:11001680 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.2924A>G (p.Lys975Arg) single nucleotide variant MHC class II deficiency [RCV000298520] Chr16:10915605 [GRCh38]
Chr16:11009462 [GRCh37]
Chr16:16p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000246.4(CIITA):c.456G>A (p.Pro152=) single nucleotide variant CIITA-related condition [RCV003922332]|MHC class II deficiency [RCV000340276] Chr16:10901533 [GRCh38]
Chr16:10995390 [GRCh37]
Chr16:16p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.200-10T>C single nucleotide variant MHC class II deficiency [RCV000279537] Chr16:10895659 [GRCh38]
Chr16:10989516 [GRCh37]
Chr16:16p13.13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.1241G>A (p.Arg414Gln) single nucleotide variant MHC class II deficiency [RCV000317798] Chr16:10906733 [GRCh38]
Chr16:11000590 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3123G>C (p.Ser1041=) single nucleotide variant MHC class II deficiency [RCV000391583] Chr16:10918500 [GRCh38]
Chr16:11012357 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.*307G>A single nucleotide variant MHC class II deficiency [RCV000282512] Chr16:10924162 [GRCh38]
Chr16:11018019 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3255G>A (p.Thr1085=) single nucleotide variant MHC class II deficiency [RCV000264055] Chr16:10922428 [GRCh38]
Chr16:11016285 [GRCh37]
Chr16:16p13.13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.133C>G (p.Leu45Val) single nucleotide variant MHC class II deficiency [RCV000319556] Chr16:10895362 [GRCh38]
Chr16:10989219 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.2394G>A (p.Pro798=) single nucleotide variant MHC class II deficiency [RCV000321727]|not specified [RCV000455062] Chr16:10907886 [GRCh38]
Chr16:11001743 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.1926C>T (p.Val642=) single nucleotide variant CIITA-related condition [RCV003910203]|MHC class II deficiency [RCV000344460] Chr16:10907418 [GRCh38]
Chr16:11001275 [GRCh37]
Chr16:16p13.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.*911G>A single nucleotide variant MHC class II deficiency [RCV000370055] Chr16:10924766 [GRCh38]
Chr16:11018623 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.781C>T (p.Pro261Ser) single nucleotide variant Inborn genetic diseases [RCV002520982]|MHC class II deficiency [RCV000370429] Chr16:10903739 [GRCh38]
Chr16:10997596 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*158G>A single nucleotide variant MHC class II deficiency [RCV000370501] Chr16:10924013 [GRCh38]
Chr16:11017870 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.773-11C>T single nucleotide variant MHC class II deficiency [RCV000306388] Chr16:10903720 [GRCh38]
Chr16:10997577 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2072C>A (p.Ala691Asp) single nucleotide variant CIITA-related condition [RCV003969892]|MHC class II deficiency [RCV000349547]|not specified [RCV000455002] Chr16:10907564 [GRCh38]
Chr16:11001421 [GRCh37]
Chr16:16p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000246.4(CIITA):c.*414T>C single nucleotide variant MHC class II deficiency [RCV000373576] Chr16:10924269 [GRCh38]
Chr16:11018126 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2834A>C (p.Glu945Ala) single nucleotide variant MHC class II deficiency [RCV000398757] Chr16:10910205 [GRCh38]
Chr16:11004062 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=) single nucleotide variant MHC class II deficiency [RCV000330475] Chr16:10906539 [GRCh38]
Chr16:11000396 [GRCh37]
Chr16:16p13.13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln) single nucleotide variant MHC class II deficiency [RCV000376342] Chr16:10907897 [GRCh38]
Chr16:11001754 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.294C>T (p.Ile98=) single nucleotide variant MHC class II deficiency [RCV000401525] Chr16:10895763 [GRCh38]
Chr16:10989620 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*690C>T single nucleotide variant MHC class II deficiency [RCV000309710] Chr16:10924545 [GRCh38]
Chr16:11018402 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.*23-7G>C single nucleotide variant MHC class II deficiency [RCV000309829] Chr16:10923871 [GRCh38]
Chr16:11017728 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.*236G>A single nucleotide variant MHC class II deficiency [RCV000330991] Chr16:10924091 [GRCh38]
Chr16:11017948 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) single nucleotide variant MHC class II deficiency [RCV000378352]|not provided [RCV001636899]|not specified [RCV000454576] Chr16:10906991 [GRCh38]
Chr16:11000848 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.-115T>G single nucleotide variant MHC class II deficiency [RCV000332514] Chr16:10877216 [GRCh38]
Chr16:10971073 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.2148C>T (p.Phe716=) single nucleotide variant MHC class II deficiency [RCV000355229] Chr16:10907640 [GRCh38]
Chr16:11001497 [GRCh37]
Chr16:16p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.3063-12G>T single nucleotide variant MHC class II deficiency [RCV000334618] Chr16:10918428 [GRCh38]
Chr16:11012285 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.225C>T (p.Cys75=) single nucleotide variant MHC class II deficiency [RCV000334684] Chr16:10895694 [GRCh38]
Chr16:10989551 [GRCh37]
Chr16:16p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000246.4(CIITA):c.2565G>A (p.Ala855=) single nucleotide variant MHC class II deficiency [RCV000382292]|not provided [RCV001672519]|not specified [RCV000454376] Chr16:10908057 [GRCh38]
Chr16:11001914 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.1635C>G (p.Leu545=) single nucleotide variant CIITA-related condition [RCV003892127]|MHC class II deficiency [RCV000384054] Chr16:10907127 [GRCh38]
Chr16:11000984 [GRCh37]
Chr16:16p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.*735G>A single nucleotide variant MHC class II deficiency [RCV000407362] Chr16:10924590 [GRCh38]
Chr16:11018447 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.*910T>C single nucleotide variant MHC class II deficiency [RCV000315324] Chr16:10924765 [GRCh38]
Chr16:11018622 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.2342C>T (p.Ser781Leu) single nucleotide variant MHC class II deficiency [RCV000361096]|not specified [RCV000455647] Chr16:10907834 [GRCh38]
Chr16:11001691 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.*261C>T single nucleotide variant MHC class II deficiency [RCV000386206] Chr16:10924116 [GRCh38]
Chr16:11017973 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*587A>G single nucleotide variant MHC class II deficiency [RCV000340040] Chr16:10924442 [GRCh38]
Chr16:11018299 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*314C>A single nucleotide variant MHC class II deficiency [RCV000318894] Chr16:10924169 [GRCh38]
Chr16:11018026 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*709G>T single nucleotide variant MHC class II deficiency [RCV000364352] Chr16:10924564 [GRCh38]
Chr16:11018421 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*103T>C single nucleotide variant MHC class II deficiency [RCV000364465]|not provided [RCV003409494] Chr16:10923958 [GRCh38]
Chr16:11017815 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.616G>A (p.Asp206Asn) single nucleotide variant MHC class II deficiency [RCV000364686] Chr16:10902172 [GRCh38]
Chr16:10996029 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*644C>G single nucleotide variant MHC class II deficiency [RCV000390251] Chr16:10924499 [GRCh38]
Chr16:11018356 [GRCh37]
Chr16:16p13.13		 benign|uncertain significance
NM_000246.4(CIITA):c.2256G>A (p.Glu752=) single nucleotide variant MHC class II deficiency [RCV001277809] Chr16:10907748 [GRCh38]
Chr16:11001605 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.772+7G>A single nucleotide variant MHC class II deficiency [RCV002184893] Chr16:10902808 [GRCh38]
Chr16:10996665 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.-4C>T single nucleotide variant MHC class II deficiency [RCV001279099] Chr16:10877327 [GRCh38]
Chr16:10971184 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.412G>T (p.Val138Phe) single nucleotide variant MHC class II deficiency [RCV001279103] Chr16:10898978 [GRCh38]
Chr16:10992835 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2335G>A (p.Ala779Thr) single nucleotide variant MHC class II deficiency [RCV001559232] Chr16:10907827 [GRCh38]
Chr16:11001684 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2237C>T (p.Pro746Leu) single nucleotide variant MHC class II deficiency [RCV001277808] Chr16:10907729 [GRCh38]
Chr16:11001586 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2324G>A (p.Gly775Glu) single nucleotide variant MHC class II deficiency [RCV001277811] Chr16:10907816 [GRCh38]
Chr16:11001673 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1971G>T (p.Leu657=) single nucleotide variant MHC class II deficiency [RCV000401071] Chr16:10907463 [GRCh38]
Chr16:11001320 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.491C>G (p.Pro164Arg) single nucleotide variant MHC class II deficiency [RCV000402014] Chr16:10902047 [GRCh38]
Chr16:10995904 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*524A>G single nucleotide variant MHC class II deficiency [RCV000402214] Chr16:10924379 [GRCh38]
Chr16:11018236 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*1092C>T single nucleotide variant MHC class II deficiency [RCV000319182] Chr16:10924947 [GRCh38]
Chr16:11018804 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*570G>A single nucleotide variant MHC class II deficiency [RCV000284543] Chr16:10924425 [GRCh38]
Chr16:11018282 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.-82G>A single nucleotide variant MHC class II deficiency [RCV000386971] Chr16:10877249 [GRCh38]
Chr16:10971106 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1493T>C (p.Leu498Pro) single nucleotide variant MHC class II deficiency [RCV000323166] Chr16:10906985 [GRCh38]
Chr16:11000842 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1296A>T (p.Ala432=) single nucleotide variant MHC class II deficiency [RCV000372500] Chr16:10906788 [GRCh38]
Chr16:11000645 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2087A>G (p.Gln696Arg) single nucleotide variant MHC class II deficiency [RCV000392393] Chr16:10907579 [GRCh38]
Chr16:11001436 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.147C>T (p.His49=) single nucleotide variant MHC class II deficiency [RCV000374114] Chr16:10895376 [GRCh38]
Chr16:10989233 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1215G>T (p.Lys405Asn) single nucleotide variant MHC class II deficiency [RCV000357396] Chr16:10906707 [GRCh38]
Chr16:11000564 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*493T>C single nucleotide variant MHC class II deficiency [RCV000343065] Chr16:10924348 [GRCh38]
Chr16:11018205 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.358+11G>A single nucleotide variant MHC class II deficiency [RCV001120409]|MHC class II deficiency [RCV002482222] Chr16:10898743 [GRCh38]
Chr16:10992600 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.366A>T (p.Ile122=) single nucleotide variant MHC class II deficiency [RCV001120410] Chr16:10898932 [GRCh38]
Chr16:10992789 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.*126G>A single nucleotide variant MHC class II deficiency [RCV001120713] Chr16:10923981 [GRCh38]
Chr16:11017838 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*849T>C single nucleotide variant MHC class II deficiency [RCV001120813] Chr16:10924704 [GRCh38]
Chr16:11018561 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*1122A>G single nucleotide variant MHC class II deficiency [RCV001120814] Chr16:10924977 [GRCh38]
Chr16:11018834 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2978C>T (p.Ala993Val) single nucleotide variant MHC class II deficiency [RCV000816836] Chr16:10916375 [GRCh38]
Chr16:11010232 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.53-12C>T single nucleotide variant MHC class II deficiency [RCV001120124] Chr16:10895270 [GRCh38]
Chr16:10989127 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.1211C>T (p.Ala404Val) single nucleotide variant MHC class II deficiency [RCV001120217] Chr16:10906703 [GRCh38]
Chr16:11000560 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) single nucleotide variant Colitis [RCV000735379]|MHC class II deficiency [RCV000791950]|MHC class II deficiency [RCV002485949]|Rheumatoid arthritis [RCV001332302] Chr16:10923254 [GRCh38]
Chr16:11017111 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2892G>A (p.Leu964=) single nucleotide variant CIITA-related condition [RCV003925607]|MHC class II deficiency [RCV000540259] Chr16:10915573 [GRCh38]
Chr16:11009430 [GRCh37]
Chr16:16p13.13		 likely benign|conflicting interpretations of pathogenicity
NM_000246.4(CIITA):c.1241G>T (p.Arg414Leu) single nucleotide variant MHC class II deficiency [RCV000535924] Chr16:10906733 [GRCh38]
Chr16:11000590 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1429C>A (p.Leu477Ile) single nucleotide variant MHC class II deficiency [RCV000548572] Chr16:10906921 [GRCh38]
Chr16:11000778 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.931A>G (p.Met311Val) single nucleotide variant CIITA-related condition [RCV003413555]|MHC class II deficiency [RCV000767937]|MHC class II deficiency [RCV003224398] Chr16:10903889 [GRCh38]
Chr16:10997746 [GRCh37]
Chr16:16p13.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_000246.4(CIITA):c.3150-5G>A single nucleotide variant MHC class II deficiency [RCV001506289]|not specified [RCV000440991] Chr16:10922162 [GRCh38]
Chr16:11016019 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1148C>A (p.Ala383Asp) single nucleotide variant MHC class II deficiency [RCV001245445]|not provided [RCV000481542] Chr16:10906640 [GRCh38]
Chr16:11000497 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2290del (p.Gln764fs) deletion MHC class II deficiency [RCV002525849]|not provided [RCV000485315] Chr16:10907781 [GRCh38]
Chr16:11001638 [GRCh37]
Chr16:16p13.13		 pathogenic|likely pathogenic
NM_000246.4(CIITA):c.520= (p.Gly174=) single nucleotide variant MHC class II deficiency [RCV000989530]|not specified [RCV000455690] Chr16:10902076 [GRCh38]
Chr16:10995933 [GRCh37]
Chr16:16p13.13		 benign
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3 copy number gain See cases [RCV000511571] Chr16:9631472..12128275 [GRCh37]
Chr16:16p13.2-13.13		 uncertain significance
GRCh37/hg19 16p13.13(chr16:10519916-11249329)x3 copy number gain See cases [RCV000511543] Chr16:10519916..11249329 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_000246.4(CIITA):c.2448C>T (p.Ala816=) single nucleotide variant MHC class II deficiency [RCV000556031]|not provided [RCV001703191] Chr16:10907940 [GRCh38]
Chr16:11001797 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.2026C>T (p.Gln676Ter) single nucleotide variant MHC class II deficiency [RCV000634006] Chr16:10907518 [GRCh38]
Chr16:11001375 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_014015.4(DEXI):c.43C>T (p.Pro15Ser) single nucleotide variant Inborn genetic diseases [RCV003257109] Chr16:10941963 [GRCh38]
Chr16:11035820 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2888+1G>A single nucleotide variant Bare lymphocyte syndrome type 2, complementation group A [RCV002248810]|MHC class II deficiency [RCV000778455]|not provided [RCV000594687] Chr16:10910260 [GRCh38]
Chr16:11004117 [GRCh37]
Chr16:16p13.13		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.1579G>C (p.Gly527Arg) single nucleotide variant MHC class II deficiency [RCV000556633] Chr16:10907071 [GRCh38]
Chr16:11000928 [GRCh37]
Chr16:16p13.13		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_000246.4(CIITA):c.494C>G (p.Thr165Ser) single nucleotide variant CIITA-related condition [RCV003915500]|MHC class II deficiency [RCV000533575] Chr16:10902050 [GRCh38]
Chr16:10995907 [GRCh37]
Chr16:16p13.13		 benign
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
NM_000246.4(CIITA):c.826G>A (p.Gly276Ser) single nucleotide variant MHC class II deficiency [RCV000557597] Chr16:10903784 [GRCh38]
Chr16:10997641 [GRCh37]
Chr16:16p13.13		 uncertain significance
GRCh37/hg19 16p13.2-13.13(chr16:9321032-10971457)x3 copy number gain See cases [RCV000512306] Chr16:9321032..10971457 [GRCh37]
Chr16:16p13.2-13.13		 uncertain significance
NM_000246.4(CIITA):c.3326C>G (p.Thr1109Arg) single nucleotide variant MHC class II deficiency [RCV000634007] Chr16:10923236 [GRCh38]
Chr16:11017093 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.170C>A (p.Ala57Asp) single nucleotide variant MHC class II deficiency [RCV000634008]|Rheumatoid arthritis [RCV002248836] Chr16:10895399 [GRCh38]
Chr16:10989256 [GRCh37]
Chr16:16p13.13		 likely pathogenic|uncertain significance
NM_000246.4(CIITA):c.1559C>T (p.Ala520Val) single nucleotide variant MHC class II deficiency [RCV000634009] Chr16:10907051 [GRCh38]
Chr16:11000908 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.286G>A (p.Ala96Thr) single nucleotide variant Inborn genetic diseases [RCV002533188]|MHC class II deficiency [RCV000634010]|MHC class II deficiency [RCV002060722] Chr16:10895755 [GRCh38]
Chr16:10989612 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2099G>A (p.Arg700Gln) single nucleotide variant MHC class II deficiency [RCV000634011] Chr16:10907591 [GRCh38]
Chr16:11001448 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3352G>A (p.Glu1118Lys) single nucleotide variant MHC class II deficiency [RCV000634012] Chr16:10923262 [GRCh38]
Chr16:11017119 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2889-5C>T single nucleotide variant MHC class II deficiency [RCV000634013] Chr16:10915565 [GRCh38]
Chr16:11009422 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1572C>T (p.Ser524=) single nucleotide variant CIITA-related condition [RCV003935772]|MHC class II deficiency [RCV000634014] Chr16:10907064 [GRCh38]
Chr16:11000921 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.370C>A (p.Pro124Thr) single nucleotide variant CIITA-related condition [RCV003928058]|MHC class II deficiency [RCV000634015] Chr16:10898936 [GRCh38]
Chr16:10992793 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.1590C>T (p.Ala530=) single nucleotide variant MHC class II deficiency [RCV000634016] Chr16:10907082 [GRCh38]
Chr16:11000939 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2178C>T (p.Gly726=) single nucleotide variant MHC class II deficiency [RCV000634017] Chr16:10907670 [GRCh38]
Chr16:11001527 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.592G>A (p.Gly198Ser) single nucleotide variant Inborn genetic diseases [RCV002529819]|MHC class II deficiency [RCV000634018] Chr16:10902148 [GRCh38]
Chr16:10996005 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.691C>T (p.Pro231Ser) single nucleotide variant MHC class II deficiency [RCV000634019]|not provided [RCV001702534]|not specified [RCV001726279] Chr16:10902720 [GRCh38]
Chr16:10996577 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.1068G>A (p.Pro356=) single nucleotide variant CIITA-related condition [RCV003980225]|MHC class II deficiency [RCV000634020]|not provided [RCV003411505] Chr16:10906560 [GRCh38]
Chr16:11000417 [GRCh37]
Chr16:16p13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000246.4(CIITA):c.629-9C>T single nucleotide variant CIITA-related condition [RCV003953119]|MHC class II deficiency [RCV000634021] Chr16:10902649 [GRCh38]
Chr16:10996506 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.2478A>G (p.Val826=) single nucleotide variant MHC class II deficiency [RCV000634022] Chr16:10907970 [GRCh38]
Chr16:11001827 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1491C>T (p.Ile497=) single nucleotide variant CIITA-related condition [RCV003945594]|MHC class II deficiency [RCV000634023] Chr16:10906983 [GRCh38]
Chr16:11000840 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu) single nucleotide variant MHC class II deficiency [RCV000698116]|MHC class II deficiency [RCV002485706] Chr16:10907048 [GRCh38]
Chr16:11000905 [GRCh37]
Chr16:16p13.13		 uncertain significance
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.13(chr16:10529891-11889585)x3 copy number gain not provided [RCV000683759] Chr16:10529891..11889585 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.44A>G (p.Glu15Gly) single nucleotide variant MHC class II deficiency [RCV000692726] Chr16:10877374 [GRCh38]
Chr16:10971231 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2059A>G (p.Thr687Ala) single nucleotide variant MHC class II deficiency [RCV000687409] Chr16:10907551 [GRCh38]
Chr16:11001408 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3311C>T (p.Thr1104Met) single nucleotide variant MHC class II deficiency [RCV000707065] Chr16:10922484 [GRCh38]
Chr16:11016341 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2942C>T (p.Thr981Met) single nucleotide variant MHC class II deficiency [RCV000689163] Chr16:10915623 [GRCh38]
Chr16:11009480 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.307C>A (p.Gln103Lys) single nucleotide variant MHC class II deficiency [RCV000692395]|MHC class II deficiency [RCV002485654] Chr16:10898681 [GRCh38]
Chr16:10992538 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1183G>A (p.Gly395Arg) single nucleotide variant MHC class II deficiency [RCV000703862] Chr16:10906675 [GRCh38]
Chr16:11000532 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.773-9C>G single nucleotide variant MHC class II deficiency [RCV000692518] Chr16:10903722 [GRCh38]
Chr16:10997579 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1856A>G (p.Gln619Arg) single nucleotide variant MHC class II deficiency [RCV000687715] Chr16:10907348 [GRCh38]
Chr16:11001205 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.413T>C (p.Val138Ala) single nucleotide variant MHC class II deficiency [RCV000690043]|MHC class II deficiency [RCV001281060] Chr16:10898979 [GRCh38]
Chr16:10992836 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1702G>A (p.Gly568Ser) single nucleotide variant MHC class II deficiency [RCV000695394]|not provided [RCV000788129] Chr16:10907194 [GRCh38]
Chr16:11001051 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.566C>T (p.Ala189Val) single nucleotide variant MHC class II deficiency [RCV000688278] Chr16:10902122 [GRCh38]
Chr16:10995979 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2544G>A (p.Leu848=) single nucleotide variant MHC class II deficiency [RCV000696249] Chr16:10908036 [GRCh38]
Chr16:11001893 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.1643G>T (p.Arg548Leu) single nucleotide variant MHC class II deficiency [RCV000699466] Chr16:10907135 [GRCh38]
Chr16:11000992 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.565G>A (p.Ala189Thr) single nucleotide variant MHC class II deficiency [RCV000696488] Chr16:10902121 [GRCh38]
Chr16:10995978 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1444G>A (p.Glu482Lys) single nucleotide variant MHC class II deficiency [RCV000696884]|not specified [RCV003493706] Chr16:10906936 [GRCh38]
Chr16:11000793 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1304G>A (p.Arg435Gln) single nucleotide variant MHC class II deficiency [RCV000701454] Chr16:10906796 [GRCh38]
Chr16:11000653 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3217T>A (p.Ser1073Thr) single nucleotide variant MHC class II deficiency [RCV000692230]|MHC class II deficiency [RCV002060875] Chr16:10922234 [GRCh38]
Chr16:11016091 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1028G>T (p.Arg343Leu) single nucleotide variant MHC class II deficiency [RCV000815140] Chr16:10906520 [GRCh38]
Chr16:11000377 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.20G>A (p.Arg7His) single nucleotide variant Inborn genetic diseases [RCV002535500]|MHC class II deficiency [RCV000819315] Chr16:10877350 [GRCh38]
Chr16:10971207 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.2657+4G>A single nucleotide variant MHC class II deficiency [RCV000814049] Chr16:10908153 [GRCh38]
Chr16:11002010 [GRCh37]
Chr16:16p13.13		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_000246.4(CIITA):c.3033C>G (p.Phe1011Leu) single nucleotide variant MHC class II deficiency [RCV000979933] Chr16:10916430 [GRCh38]
Chr16:11010287 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.963C>T (p.Cys321=) single nucleotide variant MHC class II deficiency [RCV000895885] Chr16:10904769 [GRCh38]
Chr16:10998626 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.938-119T>C single nucleotide variant MHC class II deficiency [RCV001543008] Chr16:10904625 [GRCh38]
Chr16:10998482 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.3180A>G (p.Gly1060=) single nucleotide variant MHC class II deficiency [RCV000918963] Chr16:10922197 [GRCh38]
Chr16:11016054 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1650G>C (p.Arg550=) single nucleotide variant MHC class II deficiency [RCV001459198] Chr16:10907142 [GRCh38]
Chr16:11000999 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2078G>A (p.Gly693Asp) single nucleotide variant MHC class II deficiency [RCV001117040] Chr16:10907570 [GRCh38]
Chr16:11001427 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2104G>A (p.Ala702Thr) single nucleotide variant MHC class II deficiency [RCV001063893] Chr16:10907596 [GRCh38]
Chr16:11001453 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2816+14C>T single nucleotide variant MHC class II deficiency [RCV001115703] Chr16:10909201 [GRCh38]
Chr16:11003058 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.2657+1G>A single nucleotide variant MHC class II deficiency [RCV001049273] Chr16:10908150 [GRCh38]
Chr16:11002007 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.2551G>A (p.Ala851Thr) single nucleotide variant MHC class II deficiency [RCV001054879] Chr16:10908043 [GRCh38]
Chr16:11001900 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2576T>G (p.Phe859Cys) single nucleotide variant MHC class II deficiency [RCV001056103] Chr16:10908068 [GRCh38]
Chr16:11001925 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3012C>T (p.Val1004=) single nucleotide variant MHC class II deficiency [RCV001117130] Chr16:10916409 [GRCh38]
Chr16:11010266 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.2698_2699inv (p.Gln900Trp) inversion MHC class II deficiency [RCV001061050] Chr16:10909069..10909070 [GRCh38]
Chr16:11002926..11002927 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2536C>T (p.His846Tyr) single nucleotide variant MHC class II deficiency [RCV001061894] Chr16:10908028 [GRCh38]
Chr16:11001885 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3062+14G>A single nucleotide variant MHC class II deficiency [RCV001117132] Chr16:10916473 [GRCh38]
Chr16:11010330 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.3108C>T (p.Ala1036=) single nucleotide variant MHC class II deficiency [RCV000884838]|not provided [RCV003413709] Chr16:10918485 [GRCh38]
Chr16:11012342 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.2617T>C (p.Leu873=) single nucleotide variant MHC class II deficiency [RCV000883264] Chr16:10908109 [GRCh38]
Chr16:11001966 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2408C>T (p.Ala803Val) single nucleotide variant MHC class II deficiency [RCV000884997] Chr16:10907900 [GRCh38]
Chr16:11001757 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.729C>T (p.Ile243=) single nucleotide variant MHC class II deficiency [RCV001429616] Chr16:10902758 [GRCh38]
Chr16:10996615 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2436C>T (p.Cys812=) single nucleotide variant MHC class II deficiency [RCV000928581] Chr16:10907928 [GRCh38]
Chr16:11001785 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3261C>T (p.Ala1087=) single nucleotide variant MHC class II deficiency [RCV001429267] Chr16:10922434 [GRCh38]
Chr16:11016291 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn) single nucleotide variant MHC class II deficiency [RCV000971865]|not provided [RCV002292597] Chr16:10901537 [GRCh38]
Chr16:10995394 [GRCh37]
Chr16:16p13.13		 likely benign|conflicting interpretations of pathogenicity
NM_000246.4(CIITA):c.2322C>T (p.Leu774=) single nucleotide variant MHC class II deficiency [RCV000924993] Chr16:10907814 [GRCh38]
Chr16:11001671 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3150-6C>T single nucleotide variant MHC class II deficiency [RCV000904418] Chr16:10922161 [GRCh38]
Chr16:11016018 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.3233+8_3233+9del microsatellite CIITA-related condition [RCV003935907]|MHC class II deficiency [RCV000959151] Chr16:10922255..10922256 [GRCh38]
Chr16:11016112..11016113 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.3309G>A (p.Glu1103=) single nucleotide variant MHC class II deficiency [RCV000975705] Chr16:10922482 [GRCh38]
Chr16:11016339 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3327G>A (p.Thr1109=) single nucleotide variant MHC class II deficiency [RCV000936999] Chr16:10923237 [GRCh38]
Chr16:11017094 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2679G>A (p.Val893=) single nucleotide variant MHC class II deficiency [RCV001465888] Chr16:10909050 [GRCh38]
Chr16:11002907 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1803G>C (p.Arg601=) single nucleotide variant MHC class II deficiency [RCV000920386] Chr16:10907295 [GRCh38]
Chr16:11001152 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1486C>T (p.Leu496Phe) single nucleotide variant MHC class II deficiency [RCV000928837] Chr16:10906978 [GRCh38]
Chr16:11000835 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2649C>T (p.Thr883=) single nucleotide variant MHC class II deficiency [RCV000944006] Chr16:10908141 [GRCh38]
Chr16:11001998 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3015G>A (p.Ser1005=) single nucleotide variant MHC class II deficiency [RCV000927152] Chr16:10916412 [GRCh38]
Chr16:11010269 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.807C>T (p.Pro269=) single nucleotide variant MHC class II deficiency [RCV000983527] Chr16:10903765 [GRCh38]
Chr16:10997622 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1332G>A (p.Gln444=) single nucleotide variant MHC class II deficiency [RCV000983536] Chr16:10906824 [GRCh38]
Chr16:11000681 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1053C>T (p.Ala351=) single nucleotide variant MHC class II deficiency [RCV000924547] Chr16:10906545 [GRCh38]
Chr16:11000402 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1314T>C (p.Ala438=) single nucleotide variant MHC class II deficiency [RCV000899872] Chr16:10906806 [GRCh38]
Chr16:11000663 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3219C>T (p.Ser1073=) single nucleotide variant MHC class II deficiency [RCV000983744] Chr16:10922236 [GRCh38]
Chr16:11016093 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met) single nucleotide variant CIITA-related condition [RCV003962837]|MHC class II deficiency [RCV000967160] Chr16:10906953 [GRCh38]
Chr16:11000810 [GRCh37]
Chr16:16p13.13		 benign|conflicting interpretations of pathogenicity
NM_000246.4(CIITA):c.929A>T (p.Asn310Ile) single nucleotide variant MHC class II deficiency [RCV000767935]|MHC class II deficiency [RCV003224397] Chr16:10903887 [GRCh38]
Chr16:10997744 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2112C>T (p.Ser704=) single nucleotide variant MHC class II deficiency [RCV000981464] Chr16:10907604 [GRCh38]
Chr16:11001461 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2634A>C (p.Gly878=) single nucleotide variant MHC class II deficiency [RCV001426175] Chr16:10908126 [GRCh38]
Chr16:11001983 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2643T>C (p.Cys881=) single nucleotide variant MHC class II deficiency [RCV001410505] Chr16:10908135 [GRCh38]
Chr16:11001992 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1897C>T (p.Leu633=) single nucleotide variant MHC class II deficiency [RCV001436810] Chr16:10907389 [GRCh38]
Chr16:11001246 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2154G>A (p.Gly718=) single nucleotide variant MHC class II deficiency [RCV000944788] Chr16:10907646 [GRCh38]
Chr16:11001503 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.297G>C (p.Ala99=) single nucleotide variant MHC class II deficiency [RCV001401546] Chr16:10898671 [GRCh38]
Chr16:10992528 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.772+9G>A single nucleotide variant MHC class II deficiency [RCV000931505] Chr16:10902810 [GRCh38]
Chr16:10996667 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2179G>C (p.Glu727Gln) single nucleotide variant MHC class II deficiency [RCV000895815] Chr16:10907671 [GRCh38]
Chr16:11001528 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.1029C>G (p.Arg343=) single nucleotide variant MHC class II deficiency [RCV001449313] Chr16:10906521 [GRCh38]
Chr16:11000378 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2598T>A (p.Thr866=) single nucleotide variant MHC class II deficiency [RCV001472919] Chr16:10908090 [GRCh38]
Chr16:11001947 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=) single nucleotide variant MHC class II deficiency [RCV000943673] Chr16:10916400 [GRCh38]
Chr16:11010257 [GRCh37]
Chr16:16p13.13		 likely benign|conflicting interpretations of pathogenicity
NM_000246.4(CIITA):c.2832G>A (p.Ser944=) single nucleotide variant CIITA-related condition [RCV003930495]|MHC class II deficiency [RCV000880051] Chr16:10910203 [GRCh38]
Chr16:11004060 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.141C>G (p.Leu47=) single nucleotide variant MHC class II deficiency [RCV000920098] Chr16:10895370 [GRCh38]
Chr16:10989227 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1620T>C (p.Gly540=) single nucleotide variant MHC class II deficiency [RCV000981135] Chr16:10907112 [GRCh38]
Chr16:11000969 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2682G>A (p.Ala894=) single nucleotide variant MHC class II deficiency [RCV000887832]|not provided [RCV001532280] Chr16:10909053 [GRCh38]
Chr16:11002910 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.1908G>A (p.Thr636=) single nucleotide variant MHC class II deficiency [RCV000916698] Chr16:10907400 [GRCh38]
Chr16:11001257 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2670C>T (p.Ser890=) single nucleotide variant MHC class II deficiency [RCV001452129] Chr16:10909041 [GRCh38]
Chr16:11002898 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1758G>A (p.Gly586=) single nucleotide variant MHC class II deficiency [RCV001499346] Chr16:10907250 [GRCh38]
Chr16:11001107 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1527C>T (p.Gly509=) single nucleotide variant MHC class II deficiency [RCV001280296] Chr16:10907019 [GRCh38]
Chr16:11000876 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.1914G>C (p.Thr638=) single nucleotide variant MHC class II deficiency [RCV001482894] Chr16:10907406 [GRCh38]
Chr16:11001263 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1550C>T (p.Pro517Leu) single nucleotide variant Inborn genetic diseases [RCV003244301] Chr16:10907042 [GRCh38]
Chr16:11000899 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1572C>G (p.Ser524=) single nucleotide variant MHC class II deficiency [RCV001450309] Chr16:10907064 [GRCh38]
Chr16:11000921 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2817-10T>C single nucleotide variant MHC class II deficiency [RCV000960531] Chr16:10910178 [GRCh38]
Chr16:11004035 [GRCh37]
Chr16:16p13.13		 likely benign|conflicting interpretations of pathogenicity
NM_000246.4(CIITA):c.78G>C (p.Glu26Asp) single nucleotide variant Inborn genetic diseases [RCV003258993]|MHC class II deficiency [RCV000818395] Chr16:10895307 [GRCh38]
Chr16:10989164 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.386G>A (p.Gly129Asp) single nucleotide variant MHC class II deficiency [RCV000821014] Chr16:10898952 [GRCh38]
Chr16:10992809 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1814T>G (p.Leu605Arg) single nucleotide variant MHC class II deficiency [RCV000791548] Chr16:10907306 [GRCh38]
Chr16:11001163 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.602G>A (p.Arg201His) single nucleotide variant MHC class II deficiency [RCV000792352] Chr16:10902158 [GRCh38]
Chr16:10996015 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1720G>A (p.Ala574Thr) single nucleotide variant MHC class II deficiency [RCV000796110] Chr16:10907212 [GRCh38]
Chr16:11001069 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1962dup (p.Gly655fs) duplication MHC class II deficiency [RCV000821315] Chr16:10907447..10907448 [GRCh38]
Chr16:11001304..11001305 [GRCh37]
Chr16:16p13.13		 pathogenic|likely pathogenic
NM_000246.4(CIITA):c.2098C>T (p.Arg700Trp) single nucleotide variant Inborn genetic diseases [RCV003243308]|MHC class II deficiency [RCV000799269] Chr16:10907590 [GRCh38]
Chr16:11001447 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.5G>A (p.Arg2His) single nucleotide variant Inborn genetic diseases [RCV002538172]|MHC class II deficiency [RCV000813657] Chr16:10877335 [GRCh38]
Chr16:10971192 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1545C>T (p.Cys515=) single nucleotide variant MHC class II deficiency [RCV000960178] Chr16:10907037 [GRCh38]
Chr16:11000894 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1940G>A (p.Arg647His) single nucleotide variant MHC class II deficiency [RCV000801935] Chr16:10907432 [GRCh38]
Chr16:11001289 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.455C>T (p.Pro152Leu) single nucleotide variant MHC class II deficiency [RCV000799972] Chr16:10901532 [GRCh38]
Chr16:10995389 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3175G>A (p.Val1059Met) single nucleotide variant Inborn genetic diseases [RCV002534715]|MHC class II deficiency [RCV000802560] Chr16:10922192 [GRCh38]
Chr16:11016049 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.2691G>T (p.Glu897Asp) single nucleotide variant MHC class II deficiency [RCV000809893] Chr16:10909062 [GRCh38]
Chr16:11002919 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.352A>G (p.Ile118Val) single nucleotide variant Inborn genetic diseases [RCV002537222]|MHC class II deficiency [RCV000806396] Chr16:10898726 [GRCh38]
Chr16:10992583 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2494C>G (p.Arg832Gly) single nucleotide variant MHC class II deficiency [RCV000806915] Chr16:10907986 [GRCh38]
Chr16:11001843 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2899G>T (p.Val967Phe) single nucleotide variant MHC class II deficiency [RCV000791884] Chr16:10915580 [GRCh38]
Chr16:11009437 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2864G>A (p.Arg955Gln) single nucleotide variant MHC class II deficiency [RCV000794122] Chr16:10910235 [GRCh38]
Chr16:11004092 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.14C>G (p.Ala5Gly) single nucleotide variant MHC class II deficiency [RCV000798977] Chr16:10877344 [GRCh38]
Chr16:10971201 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2348A>C (p.Asp783Ala) single nucleotide variant MHC class II deficiency [RCV000802196] Chr16:10907840 [GRCh38]
Chr16:11001697 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2028G>C (p.Gln676His) single nucleotide variant MHC class II deficiency [RCV000803162] Chr16:10907520 [GRCh38]
Chr16:11001377 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1944A>T (p.Ala648=) single nucleotide variant MHC class II deficiency [RCV001115614] Chr16:10907436 [GRCh38]
Chr16:11001293 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.3052G>A (p.Glu1018Lys) single nucleotide variant MHC class II deficiency [RCV001117131] Chr16:10916449 [GRCh38]
Chr16:11010306 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1795C>T (p.Arg599Trp) single nucleotide variant MHC class II deficiency [RCV001056259] Chr16:10907287 [GRCh38]
Chr16:11001144 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1844G>A (p.Arg615Gln) single nucleotide variant MHC class II deficiency [RCV001038678] Chr16:10907336 [GRCh38]
Chr16:11001193 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*658G>A single nucleotide variant MHC class II deficiency [RCV001118854] Chr16:10924513 [GRCh38]
Chr16:11018370 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1643G>A (p.Arg548Gln) single nucleotide variant MHC class II deficiency [RCV000821792] Chr16:10907135 [GRCh38]
Chr16:11000992 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2006G>A (p.Arg669His) single nucleotide variant Inborn genetic diseases [RCV002537385]|MHC class II deficiency [RCV000813019] Chr16:10907498 [GRCh38]
Chr16:11001355 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.-83C>T single nucleotide variant MHC class II deficiency [RCV001118587] Chr16:10877248 [GRCh38]
Chr16:10971105 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.338dup (p.Leu114fs) duplication MHC class II deficiency [RCV000825516] Chr16:10898709..10898710 [GRCh38]
Chr16:10992566..10992567 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.3235G>A (p.Val1079Ile) single nucleotide variant MHC class II deficiency [RCV001118768] Chr16:10922408 [GRCh38]
Chr16:11016265 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3318-8C>G single nucleotide variant MHC class II deficiency [RCV001118769] Chr16:10923220 [GRCh38]
Chr16:11017077 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.*667T>C single nucleotide variant MHC class II deficiency [RCV001118855] Chr16:10924522 [GRCh38]
Chr16:11018379 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*708C>A single nucleotide variant MHC class II deficiency [RCV001118857] Chr16:10924563 [GRCh38]
Chr16:11018420 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3025_3026delinsAA (p.Ala1009Asn) indel MHC class II deficiency [RCV000797579] Chr16:10916422..10916423 [GRCh38]
Chr16:11010279..11010280 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.487C>A (p.Pro163Thr) single nucleotide variant Inborn genetic diseases [RCV003279073]|MHC class II deficiency [RCV000798255] Chr16:10902043 [GRCh38]
Chr16:10995900 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.544C>A (p.Leu182Met) single nucleotide variant MHC class II deficiency [RCV000800599] Chr16:10902100 [GRCh38]
Chr16:10995957 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1577G>A (p.Arg526Gln) single nucleotide variant MHC class II deficiency [RCV000800974] Chr16:10907069 [GRCh38]
Chr16:11000926 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3377G>A (p.Arg1126Gln) single nucleotide variant MHC class II deficiency [RCV000819453] Chr16:10923287 [GRCh38]
Chr16:11017144 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2758T>C (p.Phe920Leu) single nucleotide variant MHC class II deficiency [RCV000820074] Chr16:10909129 [GRCh38]
Chr16:11002986 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.922C>T (p.Arg308Ter) single nucleotide variant MHC class II deficiency [RCV000822644] Chr16:10903880 [GRCh38]
Chr16:10997737 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.898A>C (p.Met300Leu) single nucleotide variant MHC class II deficiency [RCV000813106] Chr16:10903856 [GRCh38]
Chr16:10997713 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.567G>A (p.Ala189=) single nucleotide variant MHC class II deficiency [RCV000941860] Chr16:10902123 [GRCh38]
Chr16:10995980 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2025A>G (p.Leu675=) single nucleotide variant MHC class II deficiency [RCV000980039] Chr16:10907517 [GRCh38]
Chr16:11001374 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2979G>A (p.Ala993=) single nucleotide variant MHC class II deficiency [RCV000898715] Chr16:10916376 [GRCh38]
Chr16:11010233 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2184C>G (p.Ile728Met) single nucleotide variant MHC class II deficiency [RCV000793690] Chr16:10907676 [GRCh38]
Chr16:11001533 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1353C>T (p.Val451=) single nucleotide variant MHC class II deficiency [RCV001471126] Chr16:10906845 [GRCh38]
Chr16:11000702 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1416G>A (p.Leu472=) single nucleotide variant MHC class II deficiency [RCV000796423] Chr16:10906908 [GRCh38]
Chr16:11000765 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1010C>T (p.Pro337Leu) single nucleotide variant MHC class II deficiency [RCV000800587] Chr16:10906502 [GRCh38]
Chr16:11000359 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2674A>G (p.Thr892Ala) single nucleotide variant MHC class II deficiency [RCV000801822] Chr16:10909045 [GRCh38]
Chr16:11002902 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1225C>T (p.Arg409Trp) single nucleotide variant MHC class II deficiency [RCV000803003] Chr16:10906717 [GRCh38]
Chr16:11000574 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.38T>C (p.Leu13Pro) single nucleotide variant MHC class II deficiency [RCV000803637] Chr16:10877368 [GRCh38]
Chr16:10971225 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3123G>T (p.Ser1041=) single nucleotide variant MHC class II deficiency [RCV000979546] Chr16:10918500 [GRCh38]
Chr16:11012357 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1591G>A (p.Gly531Ser) single nucleotide variant MHC class II deficiency [RCV000807348]|not provided [RCV001573421] Chr16:10907083 [GRCh38]
Chr16:11000940 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2539G>A (p.Val847Ile) single nucleotide variant MHC class II deficiency [RCV000807406] Chr16:10908031 [GRCh38]
Chr16:11001888 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3317+2dup duplication not provided [RCV000788552] Chr16:10922491..10922492 [GRCh38]
Chr16:11016348..11016349 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.961T>C (p.Cys321Arg) single nucleotide variant MHC class II deficiency [RCV001116941] Chr16:10904767 [GRCh38]
Chr16:10998624 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*395T>C single nucleotide variant MHC class II deficiency [RCV001117220] Chr16:10924250 [GRCh38]
Chr16:11018107 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.970G>T (p.Ala324Ser) single nucleotide variant MHC class II deficiency [RCV001041339] Chr16:10904776 [GRCh38]
Chr16:10998633 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*351C>T single nucleotide variant MHC class II deficiency [RCV001115789] Chr16:10924206 [GRCh38]
Chr16:11018063 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*378G>A single nucleotide variant MHC class II deficiency [RCV001115790] Chr16:10924233 [GRCh38]
Chr16:11018090 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1834A>G (p.Thr612Ala) single nucleotide variant MHC class II deficiency [RCV001039388] Chr16:10907326 [GRCh38]
Chr16:11001183 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1939C>T (p.Arg647Cys) single nucleotide variant MHC class II deficiency [RCV001248570]|MHC class II deficiency [RCV002491849] Chr16:10907431 [GRCh38]
Chr16:11001288 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1130G>C (p.Ser377Thr) single nucleotide variant MHC class II deficiency [RCV001056102] Chr16:10906622 [GRCh38]
Chr16:11000479 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1498G>A (p.Gly500Ser) single nucleotide variant MHC class II deficiency [RCV001056817] Chr16:10906990 [GRCh38]
Chr16:11000847 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1231C>T (p.Arg411Cys) single nucleotide variant MHC class II deficiency [RCV001063523] Chr16:10906723 [GRCh38]
Chr16:11000580 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1732G>A (p.Val578Met) single nucleotide variant MHC class II deficiency [RCV001064825] Chr16:10907224 [GRCh38]
Chr16:11001081 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.397G>A (p.Glu133Lys) single nucleotide variant MHC class II deficiency [RCV001226327] Chr16:10898963 [GRCh38]
Chr16:10992820 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1327C>T (p.Pro443Ser) single nucleotide variant MHC class II deficiency [RCV001222544] Chr16:10906819 [GRCh38]
Chr16:11000676 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.174AGA[2] (p.Glu61del) microsatellite MHC class II deficiency [RCV001227230] Chr16:10895403..10895405 [GRCh38]
Chr16:10989260..10989262 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1002G>T (p.Trp334Cys) single nucleotide variant MHC class II deficiency [RCV001224245] Chr16:10904808 [GRCh38]
Chr16:10998665 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1190del (p.Leu397fs) deletion MHC class II deficiency [RCV001205159] Chr16:10906682 [GRCh38]
Chr16:11000539 [GRCh37]
Chr16:16p13.13		 pathogenic
GRCh37/hg19 16p13.2-13.13(chr16:10196800-11037738)x1 copy number loss not provided [RCV000845661] Chr16:10196800..11037738 [GRCh37]
Chr16:16p13.2-13.13		 pathogenic
NM_000246.4(CIITA):c.1106G>C (p.Arg369Thr) single nucleotide variant MHC class II deficiency [RCV001220474] Chr16:10906598 [GRCh38]
Chr16:11000455 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.616G>T (p.Asp206Tyr) single nucleotide variant MHC class II deficiency [RCV001209703] Chr16:10902172 [GRCh38]
Chr16:10996029 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.4C>A (p.Arg2Ser) single nucleotide variant MHC class II deficiency [RCV001239990] Chr16:10877334 [GRCh38]
Chr16:10971191 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3109G>A (p.Glu1037Lys) single nucleotide variant MHC class II deficiency [RCV001243179] Chr16:10918486 [GRCh38]
Chr16:11012343 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.311A>T (p.Tyr104Phe) single nucleotide variant MHC class II deficiency [RCV001238361] Chr16:10898685 [GRCh38]
Chr16:10992542 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1963G>C (p.Gly655Arg) single nucleotide variant MHC class II deficiency [RCV001240383] Chr16:10907455 [GRCh38]
Chr16:11001312 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.89T>C (p.Leu30Pro) single nucleotide variant MHC class II deficiency [RCV001214660] Chr16:10895318 [GRCh38]
Chr16:10989175 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.583C>A (p.Pro195Thr) single nucleotide variant MHC class II deficiency [RCV001222014] Chr16:10902139 [GRCh38]
Chr16:10995996 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.614C>A (p.Thr205Asn) single nucleotide variant MHC class II deficiency [RCV001242210] Chr16:10902170 [GRCh38]
Chr16:10996027 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3197G>A (p.Arg1066His) single nucleotide variant Inborn genetic diseases [RCV002570358]|MHC class II deficiency [RCV001247716]|MHC class II deficiency [RCV002491842] Chr16:10922214 [GRCh38]
Chr16:11016071 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.630_633del (p.Met210fs) deletion MHC class II deficiency [RCV001212884] Chr16:10902658..10902661 [GRCh38]
Chr16:10996515..10996518 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2494C>T (p.Arg832Cys) single nucleotide variant MHC class II deficiency [RCV001201952] Chr16:10907986 [GRCh38]
Chr16:11001843 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.47C>T (p.Pro16Leu) single nucleotide variant MHC class II deficiency [RCV001247958] Chr16:10877377 [GRCh38]
Chr16:10971234 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*267A>C single nucleotide variant MHC class II deficiency [RCV001115787] Chr16:10924122 [GRCh38]
Chr16:11017979 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2458G>A (p.Gly820Arg) single nucleotide variant MHC class II deficiency [RCV001118674] Chr16:10907950 [GRCh38]
Chr16:11001807 [GRCh37]
Chr16:16p13.13		 uncertain significance
NC_000016.9:g.(?_8829597)_(11683693_?)dup duplication Landau-Kleffner syndrome [RCV003105356] Chr16:8829597..11683693 [GRCh37]
Chr16:16p13.2-13.13		 uncertain significance
NM_000246.4(CIITA):c.2658-5C>A single nucleotide variant MHC class II deficiency [RCV003104618] Chr16:10909024 [GRCh38]
Chr16:11002881 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2484G>T (p.Glu828Asp) single nucleotide variant Inborn genetic diseases [RCV003275196] Chr16:10907976 [GRCh38]
Chr16:11001833 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.871G>A (p.Ala291Thr) single nucleotide variant MHC class II deficiency [RCV001542433] Chr16:10903829 [GRCh38]
Chr16:10997686 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.359-67T>G single nucleotide variant MHC class II deficiency [RCV001543004] Chr16:10898858 [GRCh38]
Chr16:10992715 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.482-45G>T single nucleotide variant MHC class II deficiency [RCV001543005] Chr16:10901993 [GRCh38]
Chr16:10995850 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.772+24G>A single nucleotide variant MHC class II deficiency [RCV001543007] Chr16:10902825 [GRCh38]
Chr16:10996682 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.2816+57G>A single nucleotide variant MHC class II deficiency [RCV001543025] Chr16:10909244 [GRCh38]
Chr16:11003101 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.2969+80C>A single nucleotide variant MHC class II deficiency [RCV001543027] Chr16:10915730 [GRCh38]
Chr16:11009587 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.1907C>T (p.Thr636Met) single nucleotide variant not provided [RCV001573961] Chr16:10907399 [GRCh38]
Chr16:11001256 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1389T>C (p.Tyr463=) single nucleotide variant MHC class II deficiency [RCV000982734] Chr16:10906881 [GRCh38]
Chr16:11000738 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.414T>C (p.Val138=) single nucleotide variant MHC class II deficiency [RCV001487656] Chr16:10898980 [GRCh38]
Chr16:10992837 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1416G>T (p.Leu472=) single nucleotide variant MHC class II deficiency [RCV000910603] Chr16:10906908 [GRCh38]
Chr16:11000765 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3312G>A (p.Thr1104=) single nucleotide variant MHC class II deficiency [RCV001471598] Chr16:10922485 [GRCh38]
Chr16:11016342 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1344C>A (p.Val448=) single nucleotide variant MHC class II deficiency [RCV000932459] Chr16:10906836 [GRCh38]
Chr16:11000693 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1149C>T (p.Ala383=) single nucleotide variant MHC class II deficiency [RCV000929765] Chr16:10906641 [GRCh38]
Chr16:11000498 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1683C>T (p.Asp561=) single nucleotide variant CIITA-related condition [RCV003950487]|MHC class II deficiency [RCV000897038] Chr16:10907175 [GRCh38]
Chr16:11001032 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.261T>G (p.Gly87=) single nucleotide variant MHC class II deficiency [RCV001397592] Chr16:10895730 [GRCh38]
Chr16:10989587 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1155G>A (p.Pro385=) single nucleotide variant MHC class II deficiency [RCV000931083] Chr16:10906647 [GRCh38]
Chr16:11000504 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1791C>G (p.Leu597=) single nucleotide variant MHC class II deficiency [RCV000925696] Chr16:10907283 [GRCh38]
Chr16:11001140 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.3000G>A (p.Gly1000=) single nucleotide variant MHC class II deficiency [RCV000930119] Chr16:10916397 [GRCh38]
Chr16:11010254 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3317+10G>C single nucleotide variant MHC class II deficiency [RCV001453837] Chr16:10922500 [GRCh38]
Chr16:11016357 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.825C>T (p.His275=) single nucleotide variant MHC class II deficiency [RCV000895518] Chr16:10903783 [GRCh38]
Chr16:10997640 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2442C>T (p.His814=) single nucleotide variant MHC class II deficiency [RCV000933328] Chr16:10907934 [GRCh38]
Chr16:11001791 [GRCh37]
Chr16:16p13.13		 likely benign|conflicting interpretations of pathogenicity
NM_000246.4(CIITA):c.772+5G>T single nucleotide variant MHC class II deficiency [RCV000920402] Chr16:10902806 [GRCh38]
Chr16:10996663 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2610C>G (p.Pro870=) single nucleotide variant MHC class II deficiency [RCV000919755] Chr16:10908102 [GRCh38]
Chr16:11001959 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1740C>G (p.Arg580=) single nucleotide variant CIITA-related condition [RCV003960533]|MHC class II deficiency [RCV000938672] Chr16:10907232 [GRCh38]
Chr16:11001089 [GRCh37]
Chr16:16p13.13		 benign|likely benign
NM_000246.4(CIITA):c.1437G>A (p.Ala479=) single nucleotide variant MHC class II deficiency [RCV000908866] Chr16:10906929 [GRCh38]
Chr16:11000786 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3261C>G (p.Ala1087=) single nucleotide variant MHC class II deficiency [RCV000944159] Chr16:10922434 [GRCh38]
Chr16:11016291 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2302C>A (p.Arg768Ser) single nucleotide variant MHC class II deficiency [RCV001207148] Chr16:10907794 [GRCh38]
Chr16:11001651 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1720G>T (p.Ala574Ser) single nucleotide variant MHC class II deficiency [RCV001244311] Chr16:10907212 [GRCh38]
Chr16:11001069 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1463T>G (p.Leu488Trp) single nucleotide variant MHC class II deficiency [RCV001218810] Chr16:10906955 [GRCh38]
Chr16:11000812 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3088C>G (p.Leu1030Val) single nucleotide variant MHC class II deficiency [RCV001222541] Chr16:10918465 [GRCh38]
Chr16:11012322 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1517C>T (p.Ala506Val) single nucleotide variant MHC class II deficiency [RCV001120519] Chr16:10907009 [GRCh38]
Chr16:11000866 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2933G>A (p.Arg978Gln) single nucleotide variant MHC class II deficiency [RCV001208794] Chr16:10915614 [GRCh38]
Chr16:11009471 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2522C>G (p.Thr841Arg) single nucleotide variant MHC class II deficiency [RCV001220203] Chr16:10908014 [GRCh38]
Chr16:11001871 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3004G>A (p.Glu1002Lys) single nucleotide variant MHC class II deficiency [RCV001248596] Chr16:10916401 [GRCh38]
Chr16:11010258 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2109G>T (p.Glu703Asp) single nucleotide variant Inborn genetic diseases [RCV002570384]|MHC class II deficiency [RCV001248620] Chr16:10907601 [GRCh38]
Chr16:11001458 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3106G>T (p.Ala1036Ser) single nucleotide variant MHC class II deficiency [RCV001209029] Chr16:10918483 [GRCh38]
Chr16:11012340 [GRCh37]
Chr16:16p13.13		 uncertain significance
NC_000016.10:g.(?_10877311)_(10923323_?)del deletion MHC class II deficiency [RCV001033306] Chr16:10971168..11017180 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2135T>C (p.Leu712Pro) single nucleotide variant Inborn genetic diseases [RCV002551370]|MHC class II deficiency [RCV001036938] Chr16:10907627 [GRCh38]
Chr16:11001484 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1558G>T (p.Ala520Ser) single nucleotide variant MHC class II deficiency [RCV001044157] Chr16:10907050 [GRCh38]
Chr16:11000907 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1075A>G (p.Ile359Val) single nucleotide variant MHC class II deficiency [RCV001116942] Chr16:10906567 [GRCh38]
Chr16:11000424 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1148C>T (p.Ala383Val) single nucleotide variant MHC class II deficiency [RCV001116943] Chr16:10906640 [GRCh38]
Chr16:11000497 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.979G>A (p.Val327Ile) single nucleotide variant MHC class II deficiency [RCV001069826] Chr16:10904785 [GRCh38]
Chr16:10998642 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1594C>T (p.Leu532Phe) single nucleotide variant MHC class II deficiency [RCV001221557] Chr16:10907086 [GRCh38]
Chr16:11000943 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.326C>G (p.Ser109Cys) single nucleotide variant MHC class II deficiency [RCV001247066] Chr16:10898700 [GRCh38]
Chr16:10992557 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2343G>C (p.Ser781=) single nucleotide variant MHC class II deficiency [RCV003523038] Chr16:10907835 [GRCh38]
Chr16:11001692 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2667G>A (p.Leu889=) single nucleotide variant MHC class II deficiency [RCV002065835] Chr16:10909038 [GRCh38]
Chr16:11002895 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3357C>T (p.His1119=) single nucleotide variant CIITA-related condition [RCV003970380]|MHC class II deficiency [RCV000912855] Chr16:10923267 [GRCh38]
Chr16:11017124 [GRCh37]
Chr16:16p13.13		 likely benign|conflicting interpretations of pathogenicity
NM_000246.4(CIITA):c.2819C>T (p.Thr940Met) single nucleotide variant MHC class II deficiency [RCV001045818] Chr16:10910190 [GRCh38]
Chr16:11004047 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2817-8C>G single nucleotide variant MHC class II deficiency [RCV001027817]|MHC class II deficiency [RCV001496304] Chr16:10910180 [GRCh38]
Chr16:11004037 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.2409G>A (p.Ala803=) single nucleotide variant MHC class II deficiency [RCV001118673] Chr16:10907901 [GRCh38]
Chr16:11001758 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.*48G>C single nucleotide variant MHC class II deficiency [RCV001118770] Chr16:10923903 [GRCh38]
Chr16:11017760 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2331G>A (p.Ser777=) single nucleotide variant MHC class II deficiency [RCV001060856] Chr16:10907823 [GRCh38]
Chr16:11001680 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.947C>T (p.Thr316Met) single nucleotide variant MHC class II deficiency [RCV001065449] Chr16:10904753 [GRCh38]
Chr16:10998610 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.835A>G (p.Thr279Ala) single nucleotide variant MHC class II deficiency [RCV001051255] Chr16:10903793 [GRCh38]
Chr16:10997650 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.63G>C (p.Gln21His) single nucleotide variant Inborn genetic diseases [RCV002556570]|MHC class II deficiency [RCV001120125] Chr16:10895292 [GRCh38]
Chr16:10989149 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*1126T>G single nucleotide variant MHC class II deficiency [RCV001120815] Chr16:10924981 [GRCh38]
Chr16:11018838 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.199+89C>T single nucleotide variant MHC class II deficiency [RCV001543003] Chr16:10895517 [GRCh38]
Chr16:10989374 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.629-116C>A single nucleotide variant MHC class II deficiency [RCV001543006] Chr16:10902542 [GRCh38]
Chr16:10996399 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.2142A>G (p.Gln714=) single nucleotide variant MHC class II deficiency [RCV001054202] Chr16:10907634 [GRCh38]
Chr16:11001491 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.109C>A (p.Leu37Ile) single nucleotide variant MHC class II deficiency [RCV001057286] Chr16:10895338 [GRCh38]
Chr16:10989195 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.494C>T (p.Thr165Ile) single nucleotide variant MHC class II deficiency [RCV001060897] Chr16:10902050 [GRCh38]
Chr16:10995907 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2113G>A (p.Glu705Lys) single nucleotide variant MHC class II deficiency [RCV001231376]|MHC class II deficiency [RCV002484265] Chr16:10907605 [GRCh38]
Chr16:11001462 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.948G>A (p.Thr316=) single nucleotide variant MHC class II deficiency [RCV001116940] Chr16:10904754 [GRCh38]
Chr16:10998611 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.2139G>A (p.Leu713=) single nucleotide variant MHC class II deficiency [RCV001117041] Chr16:10907631 [GRCh38]
Chr16:11001488 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.607G>A (p.Glu203Lys) single nucleotide variant MHC class II deficiency [RCV001235872] Chr16:10902163 [GRCh38]
Chr16:10996020 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.938-6C>A single nucleotide variant MHC class II deficiency [RCV001214884] Chr16:10904738 [GRCh38]
Chr16:10998595 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.2773C>G (p.Leu925Val) single nucleotide variant MHC class II deficiency [RCV001205079] Chr16:10909144 [GRCh38]
Chr16:11003001 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1699T>C (p.Ser567Pro) single nucleotide variant MHC class II deficiency [RCV001212239] Chr16:10907191 [GRCh38]
Chr16:11001048 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.404C>T (p.Pro135Leu) single nucleotide variant MHC class II deficiency [RCV001120411] Chr16:10898970 [GRCh38]
Chr16:10992827 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2260G>A (p.Val754Met) single nucleotide variant MHC class II deficiency [RCV001247260] Chr16:10907752 [GRCh38]
Chr16:11001609 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2932C>T (p.Arg978Trp) single nucleotide variant MHC class II deficiency [RCV001220010] Chr16:10915613 [GRCh38]
Chr16:11009470 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*163C>T single nucleotide variant MHC class II deficiency [RCV001120714] Chr16:10924018 [GRCh38]
Chr16:11017875 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*164G>A single nucleotide variant MHC class II deficiency [RCV001120715] Chr16:10924019 [GRCh38]
Chr16:11017876 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*182C>G single nucleotide variant MHC class II deficiency [RCV001120716] Chr16:10924037 [GRCh38]
Chr16:11017894 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.-84C>T single nucleotide variant MHC class II deficiency [RCV001118586]|not provided [RCV003405327] Chr16:10877247 [GRCh38]
Chr16:10971104 [GRCh37]
Chr16:16p13.13		 benign|uncertain significance
NM_000246.4(CIITA):c.*673G>A single nucleotide variant MHC class II deficiency [RCV001118856] Chr16:10924528 [GRCh38]
Chr16:11018385 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2113G>C (p.Glu705Gln) single nucleotide variant Inborn genetic diseases [RCV003373022]|MHC class II deficiency [RCV001202916]|MHC class II deficiency [RCV002484089] Chr16:10907605 [GRCh38]
Chr16:11001462 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1334_1335delinsCA (p.Tyr445Ser) indel MHC class II deficiency [RCV001202256] Chr16:10906826..10906827 [GRCh38]
Chr16:11000683..11000684 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2510G>A (p.Gly837Asp) single nucleotide variant MHC class II deficiency [RCV001207942] Chr16:10908002 [GRCh38]
Chr16:11001859 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1480G>A (p.Val494Ile) single nucleotide variant MHC class II deficiency [RCV001234506] Chr16:10906972 [GRCh38]
Chr16:11000829 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.364A>G (p.Ile122Val) single nucleotide variant MHC class II deficiency [RCV001232323] Chr16:10898930 [GRCh38]
Chr16:10992787 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2832G>T (p.Ser944=) single nucleotide variant MHC class II deficiency [RCV001115704] Chr16:10910203 [GRCh38]
Chr16:11004060 [GRCh37]
Chr16:16p13.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.*303C>T single nucleotide variant MHC class II deficiency [RCV001115788] Chr16:10924158 [GRCh38]
Chr16:11018015 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3062+2T>C single nucleotide variant MHC class II deficiency [RCV001204286] Chr16:10916461 [GRCh38]
Chr16:11010318 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.1802G>A (p.Arg601Gln) single nucleotide variant MHC class II deficiency [RCV001246349] Chr16:10907294 [GRCh38]
Chr16:11001151 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3014C>G (p.Ser1005Trp) single nucleotide variant MHC class II deficiency [RCV001203625] Chr16:10916411 [GRCh38]
Chr16:11010268 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.626C>T (p.Pro209Leu) single nucleotide variant MHC class II deficiency [RCV001247205] Chr16:10902182 [GRCh38]
Chr16:10996039 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3234C>T (p.Asp1078=) single nucleotide variant MHC class II deficiency [RCV001118767] Chr16:10922407 [GRCh38]
Chr16:11016264 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.*824T>C single nucleotide variant MHC class II deficiency [RCV001118858] Chr16:10924679 [GRCh38]
Chr16:11018536 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2267G>A (p.Arg756His) single nucleotide variant MHC class II deficiency [RCV001210778] Chr16:10907759 [GRCh38]
Chr16:11001616 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1927G>T (p.Gly643Cys) single nucleotide variant MHC class II deficiency [RCV001115613] Chr16:10907419 [GRCh38]
Chr16:11001276 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.736G>A (p.Ala246Thr) single nucleotide variant MHC class II deficiency [RCV001245904] Chr16:10902765 [GRCh38]
Chr16:10996622 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1801C>G (p.Arg601Gly) single nucleotide variant MHC class II deficiency [RCV001203976] Chr16:10907293 [GRCh38]
Chr16:11001150 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3207G>A (p.Pro1069=) single nucleotide variant MHC class II deficiency [RCV001245935] Chr16:10922224 [GRCh38]
Chr16:11016081 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_000246.4(CIITA):c.200-9T>C single nucleotide variant MHC class II deficiency [RCV001279101] Chr16:10895660 [GRCh38]
Chr16:10989517 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.436+3G>C single nucleotide variant MHC class II deficiency [RCV001279104] Chr16:10899005 [GRCh38]
Chr16:10992862 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.712C>T (p.His238Tyr) single nucleotide variant MHC class II deficiency [RCV001280283] Chr16:10902741 [GRCh38]
Chr16:10996598 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.950C>A (p.Ser317Tyr) single nucleotide variant MHC class II deficiency [RCV001280286] Chr16:10904756 [GRCh38]
Chr16:10998613 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) single nucleotide variant Inborn genetic diseases [RCV003365299]|MHC class II deficiency [RCV001280287]|MHC class II deficiency [RCV002069483] Chr16:10904771 [GRCh38]
Chr16:10998628 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.1044G>T (p.Thr348=) single nucleotide variant MHC class II deficiency [RCV001280289] Chr16:10906536 [GRCh38]
Chr16:11000393 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.1322G>A (p.Arg441Gln) single nucleotide variant MHC class II deficiency [RCV001280294] Chr16:10906814 [GRCh38]
Chr16:11000671 [GRCh37]
Chr16:16p13.13		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_000246.4(CIITA):c.2564C>T (p.Ala855Val) single nucleotide variant MHC class II deficiency [RCV001277812]|MHC class II deficiency [RCV002486028] Chr16:10908056 [GRCh38]
Chr16:11001913 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2830T>C (p.Ser944Pro) single nucleotide variant MHC class II deficiency [RCV001277815] Chr16:10910201 [GRCh38]
Chr16:11004058 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3029C>T (p.Thr1010Ile) single nucleotide variant Inborn genetic diseases [RCV002538451]|MHC class II deficiency [RCV001295501] Chr16:10916426 [GRCh38]
Chr16:11010283 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1006+3G>A single nucleotide variant MHC class II deficiency [RCV001319852] Chr16:10904815 [GRCh38]
Chr16:10998672 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1765G>A (p.Glu589Lys) single nucleotide variant MHC class II deficiency [RCV001320379] Chr16:10907257 [GRCh38]
Chr16:11001114 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1168C>T (p.Arg390Trp) single nucleotide variant MHC class II deficiency [RCV001280293] Chr16:10906660 [GRCh38]
Chr16:11000517 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1560G>A (p.Ala520=) single nucleotide variant MHC class II deficiency [RCV001280298] Chr16:10907052 [GRCh38]
Chr16:11000909 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2053G>T (p.Val685Leu) single nucleotide variant MHC class II deficiency [RCV001280300] Chr16:10907545 [GRCh38]
Chr16:11001402 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.628+4T>A single nucleotide variant MHC class II deficiency [RCV001280281] Chr16:10902188 [GRCh38]
Chr16:10996045 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1568G>C (p.Cys523Ser) single nucleotide variant Inborn genetic diseases [RCV002541743]|MHC class II deficiency [RCV001280299] Chr16:10907060 [GRCh38]
Chr16:11000917 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.1552G>C (p.Ala518Pro) single nucleotide variant MHC class II deficiency [RCV001336746] Chr16:10907044 [GRCh38]
Chr16:11000901 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2858C>G (p.Ala953Gly) single nucleotide variant MHC class II deficiency [RCV001333308] Chr16:10910229 [GRCh38]
Chr16:11004086 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.199+6C>T single nucleotide variant MHC class II deficiency [RCV001349641] Chr16:10895434 [GRCh38]
Chr16:10989291 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2065G>A (p.Ala689Thr) single nucleotide variant MHC class II deficiency [RCV001303576] Chr16:10907557 [GRCh38]
Chr16:11001414 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.803C>T (p.Pro268Leu) single nucleotide variant MHC class II deficiency [RCV001326112] Chr16:10903761 [GRCh38]
Chr16:10997618 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2325G>A (p.Gly775=) single nucleotide variant MHC class II deficiency [RCV001433348] Chr16:10907817 [GRCh38]
Chr16:11001674 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2974G>A (p.Asp992Asn) single nucleotide variant MHC class II deficiency [RCV001308012] Chr16:10916371 [GRCh38]
Chr16:11010228 [GRCh37]
Chr16:16p13.13		 uncertain significance
NC_000016.9:g.(?_10971168)_(10971259_?)del deletion MHC class II deficiency [RCV001383347] Chr16:10971168..10971259 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.436+8A>T single nucleotide variant MHC class II deficiency [RCV001422565] Chr16:10899010 [GRCh38]
Chr16:10992867 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.772+9G>T single nucleotide variant MHC class II deficiency [RCV001422277] Chr16:10902810 [GRCh38]
Chr16:10996667 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1383T>C (p.Asp461=) single nucleotide variant MHC class II deficiency [RCV001391893] Chr16:10906875 [GRCh38]
Chr16:11000732 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1236G>A (p.Glu412=) single nucleotide variant MHC class II deficiency [RCV001422304] Chr16:10906728 [GRCh38]
Chr16:11000585 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1768C>A (p.His590Asn) single nucleotide variant MHC class II deficiency [RCV001361770] Chr16:10907260 [GRCh38]
Chr16:11001117 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2375A>T (p.Tyr792Phe) single nucleotide variant MHC class II deficiency [RCV001281061] Chr16:10907867 [GRCh38]
Chr16:11001724 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2734G>A (p.Glu912Lys) single nucleotide variant MHC class II deficiency [RCV001277814] Chr16:10909105 [GRCh38]
Chr16:11002962 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2831C>T (p.Ser944Leu) single nucleotide variant MHC class II deficiency [RCV001277816]|MHC class II deficiency [RCV002486029] Chr16:10910202 [GRCh38]
Chr16:11004059 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2889-9G>T single nucleotide variant MHC class II deficiency [RCV001277817] Chr16:10915561 [GRCh38]
Chr16:11009418 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3008G>T (p.Gly1003Val) single nucleotide variant MHC class II deficiency [RCV001277819] Chr16:10916405 [GRCh38]
Chr16:11010262 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1587G>T (p.Leu529=) single nucleotide variant MHC class II deficiency [RCV001433431] Chr16:10907079 [GRCh38]
Chr16:11000936 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.331C>A (p.Leu111Met) single nucleotide variant MHC class II deficiency [RCV001279102] Chr16:10898705 [GRCh38]
Chr16:10992562 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.363C>T (p.His121=) single nucleotide variant MHC class II deficiency [RCV001414580] Chr16:10898929 [GRCh38]
Chr16:10992786 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1422A>G (p.Pro474=) single nucleotide variant MHC class II deficiency [RCV001396831] Chr16:10906914 [GRCh38]
Chr16:11000771 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3165C>T (p.Cys1055=) single nucleotide variant MHC class II deficiency [RCV001423028] Chr16:10922182 [GRCh38]
Chr16:11016039 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.19C>T (p.Arg7Cys) single nucleotide variant MHC class II deficiency [RCV001316858] Chr16:10877349 [GRCh38]
Chr16:10971206 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1257G>C (p.Leu419=) single nucleotide variant MHC class II deficiency [RCV001413618] Chr16:10906749 [GRCh38]
Chr16:11000606 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.837A>G (p.Thr279=) single nucleotide variant MHC class II deficiency [RCV001423039] Chr16:10903795 [GRCh38]
Chr16:10997652 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3156C>T (p.Tyr1052=) single nucleotide variant MHC class II deficiency [RCV001391909] Chr16:10922173 [GRCh38]
Chr16:11016030 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1440C>G (p.Ala480=) single nucleotide variant MHC class II deficiency [RCV001392406] Chr16:10906932 [GRCh38]
Chr16:11000789 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1959C>T (p.Pro653=) single nucleotide variant MHC class II deficiency [RCV001433961] Chr16:10907451 [GRCh38]
Chr16:11001308 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1920C>T (p.Leu640=) single nucleotide variant MHC class II deficiency [RCV001422904] Chr16:10907412 [GRCh38]
Chr16:11001269 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1054G>A (p.Glu352Lys) single nucleotide variant MHC class II deficiency [RCV001315649] Chr16:10906546 [GRCh38]
Chr16:11000403 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1097T>C (p.Val366Ala) single nucleotide variant MHC class II deficiency [RCV001280291] Chr16:10906589 [GRCh38]
Chr16:11000446 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2658-10C>T single nucleotide variant MHC class II deficiency [RCV001277813] Chr16:10909019 [GRCh38]
Chr16:11002876 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.3233+7G>A single nucleotide variant MHC class II deficiency [RCV001277821] Chr16:10922257 [GRCh38]
Chr16:11016114 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.2066C>T (p.Ala689Val) single nucleotide variant Inborn genetic diseases [RCV002543838]|MHC class II deficiency [RCV001322085] Chr16:10907558 [GRCh38]
Chr16:11001415 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2259C>T (p.Gly753=) single nucleotide variant MHC class II deficiency [RCV001277810] Chr16:10907751 [GRCh38]
Chr16:11001608 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.139C>G (p.Leu47Val) single nucleotide variant MHC class II deficiency [RCV001342488] Chr16:10895368 [GRCh38]
Chr16:10989225 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.709C>G (p.Pro237Ala) single nucleotide variant MHC class II deficiency [RCV001346136] Chr16:10902738 [GRCh38]
Chr16:10996595 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.174A>T (p.Gly58=) single nucleotide variant MHC class II deficiency [RCV001279100]|MHC class II deficiency [RCV002504404] Chr16:10895403 [GRCh38]
Chr16:10989260 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1220A>G (p.His407Arg) single nucleotide variant MHC class II deficiency [RCV001368717] Chr16:10906712 [GRCh38]
Chr16:11000569 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.436+9del deletion MHC class II deficiency [RCV001279105] Chr16:10899011 [GRCh38]
Chr16:10992868 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.1849G>A (p.Val617Met) single nucleotide variant MHC class II deficiency [RCV001323292] Chr16:10907341 [GRCh38]
Chr16:11001198 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.567G>C (p.Ala189=) single nucleotide variant MHC class II deficiency [RCV001280280] Chr16:10902123 [GRCh38]
Chr16:10995980 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.789C>G (p.Ala263=) single nucleotide variant MHC class II deficiency [RCV001280284] Chr16:10903747 [GRCh38]
Chr16:10997604 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1010C>A (p.Pro337Gln) single nucleotide variant MHC class II deficiency [RCV001280288] Chr16:10906502 [GRCh38]
Chr16:11000359 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1076T>C (p.Ile359Thr) single nucleotide variant MHC class II deficiency [RCV001280290] Chr16:10906568 [GRCh38]
Chr16:11000425 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2235G>C (p.Arg745Ser) single nucleotide variant MHC class II deficiency [RCV001347855] Chr16:10907727 [GRCh38]
Chr16:11001584 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.482C>G (p.Ala161Gly) single nucleotide variant MHC class II deficiency [RCV001359746] Chr16:10902038 [GRCh38]
Chr16:10995895 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.437C>G (p.Pro146Arg) single nucleotide variant MHC class II deficiency [RCV001298654] Chr16:10901514 [GRCh38]
Chr16:10995371 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1043C>T (p.Thr348Met) single nucleotide variant MHC class II deficiency [RCV001322626] Chr16:10906535 [GRCh38]
Chr16:11000392 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.847C>T (p.Arg283Trp) single nucleotide variant MHC class II deficiency [RCV001344571] Chr16:10903805 [GRCh38]
Chr16:10997662 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3361C>A (p.Gln1121Lys) single nucleotide variant MHC class II deficiency [RCV001363891] Chr16:10923271 [GRCh38]
Chr16:11017128 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2179G>A (p.Glu727Lys) single nucleotide variant MHC class II deficiency [RCV001339640] Chr16:10907671 [GRCh38]
Chr16:11001528 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2192A>G (p.Lys731Arg) single nucleotide variant MHC class II deficiency [RCV001366249] Chr16:10907684 [GRCh38]
Chr16:11001541 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.61_62insTGT (p.Gln21delinsLeuTer) insertion MHC class II deficiency [RCV001295392] Chr16:10895290..10895291 [GRCh38]
Chr16:10989147..10989148 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.319C>G (p.Gln107Glu) single nucleotide variant MHC class II deficiency [RCV001304947] Chr16:10898693 [GRCh38]
Chr16:10992550 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.740G>A (p.Gly247Glu) single nucleotide variant MHC class II deficiency [RCV001318194] Chr16:10902769 [GRCh38]
Chr16:10996626 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.494C>A (p.Thr165Asn) single nucleotide variant MHC class II deficiency [RCV001309244] Chr16:10902050 [GRCh38]
Chr16:10995907 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.758T>C (p.Ile253Thr) single nucleotide variant MHC class II deficiency [RCV001360336] Chr16:10902787 [GRCh38]
Chr16:10996644 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2357A>G (p.Gln786Arg) single nucleotide variant MHC class II deficiency [RCV001371476] Chr16:10907849 [GRCh38]
Chr16:11001706 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2490C>T (p.Pro830=) single nucleotide variant MHC class II deficiency [RCV001414098] Chr16:10907982 [GRCh38]
Chr16:11001839 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1128G>A (p.Lys376=) single nucleotide variant MHC class II deficiency [RCV001412741] Chr16:10906620 [GRCh38]
Chr16:11000477 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2994G>A (p.Lys998=) single nucleotide variant MHC class II deficiency [RCV001277818] Chr16:10916391 [GRCh38]
Chr16:11010248 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.3088C>T (p.Leu1030=) single nucleotide variant MHC class II deficiency [RCV001277820] Chr16:10918465 [GRCh38]
Chr16:11012322 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.800C>A (p.Pro267His) single nucleotide variant MHC class II deficiency [RCV001367845] Chr16:10903758 [GRCh38]
Chr16:10997615 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.534C>A (p.Asp178Glu) single nucleotide variant MHC class II deficiency [RCV001279106] Chr16:10902090 [GRCh38]
Chr16:10995947 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.102C>T (p.Tyr34=) single nucleotide variant MHC class II deficiency [RCV001412439] Chr16:10895331 [GRCh38]
Chr16:10989188 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1042A>G (p.Thr348Ala) single nucleotide variant MHC class II deficiency [RCV001368915] Chr16:10906534 [GRCh38]
Chr16:11000391 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2888+13G>A single nucleotide variant MHC class II deficiency [RCV001394913] Chr16:10910272 [GRCh38]
Chr16:11004129 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.649T>C (p.Leu217=) single nucleotide variant MHC class II deficiency [RCV001280282] Chr16:10902678 [GRCh38]
Chr16:10996535 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.791G>A (p.Ser264Asn) single nucleotide variant MHC class II deficiency [RCV001280285] Chr16:10903749 [GRCh38]
Chr16:10997606 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1138C>G (p.Arg380Gly) single nucleotide variant MHC class II deficiency [RCV001280292] Chr16:10906630 [GRCh38]
Chr16:11000487 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1436C>T (p.Ala479Val) single nucleotide variant MHC class II deficiency [RCV001280295] Chr16:10906928 [GRCh38]
Chr16:11000785 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1550C>A (p.Pro517Gln) single nucleotide variant Inborn genetic diseases [RCV003263919]|MHC class II deficiency [RCV001280297] Chr16:10907042 [GRCh38]
Chr16:11000899 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1584G>T (p.Leu528=) single nucleotide variant MHC class II deficiency [RCV001412771] Chr16:10907076 [GRCh38]
Chr16:11000933 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2377C>G (p.Leu793Val) single nucleotide variant MHC class II deficiency [RCV001333307] Chr16:10907869 [GRCh38]
Chr16:11001726 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.354T>C (p.Ile118=) single nucleotide variant MHC class II deficiency [RCV001469320] Chr16:10898728 [GRCh38]
Chr16:10992585 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2904A>G (p.Ser968=) single nucleotide variant MHC class II deficiency [RCV001472916] Chr16:10915585 [GRCh38]
Chr16:11009442 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3147A>C (p.Leu1049=) single nucleotide variant MHC class II deficiency [RCV001474907] Chr16:10918524 [GRCh38]
Chr16:11012381 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.570G>A (p.Leu190=) single nucleotide variant MHC class II deficiency [RCV001474911] Chr16:10902126 [GRCh38]
Chr16:10995983 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1788G>A (p.Thr596=) single nucleotide variant MHC class II deficiency [RCV001492168] Chr16:10907280 [GRCh38]
Chr16:11001137 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.126T>C (p.Ala42=) single nucleotide variant MHC class II deficiency [RCV001457511] Chr16:10895355 [GRCh38]
Chr16:10989212 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1623C>T (p.Cys541=) single nucleotide variant MHC class II deficiency [RCV001438265] Chr16:10907115 [GRCh38]
Chr16:11000972 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.591C>T (p.Ser197=) single nucleotide variant MHC class II deficiency [RCV001401933] Chr16:10902147 [GRCh38]
Chr16:10996004 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2816+15G>A single nucleotide variant MHC class II deficiency [RCV001499227] Chr16:10909202 [GRCh38]
Chr16:11003059 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2208C>T (p.Tyr736=) single nucleotide variant MHC class II deficiency [RCV001430206] Chr16:10907700 [GRCh38]
Chr16:11001557 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3123G>A (p.Ser1041=) single nucleotide variant MHC class II deficiency [RCV001416792] Chr16:10918500 [GRCh38]
Chr16:11012357 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1494A>G (p.Leu498=) single nucleotide variant MHC class II deficiency [RCV001492280] Chr16:10906986 [GRCh38]
Chr16:11000843 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.165C>T (p.Asp55=) single nucleotide variant MHC class II deficiency [RCV001492412] Chr16:10895394 [GRCh38]
Chr16:10989251 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.813A>C (p.Gly271=) single nucleotide variant MHC class II deficiency [RCV001485813] Chr16:10903771 [GRCh38]
Chr16:10997628 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1492C>T (p.Leu498=) single nucleotide variant MHC class II deficiency [RCV001478701] Chr16:10906984 [GRCh38]
Chr16:11000841 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.492C>T (p.Pro164=) single nucleotide variant MHC class II deficiency [RCV001484388] Chr16:10902048 [GRCh38]
Chr16:10995905 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2370G>A (p.Ala790=) single nucleotide variant MHC class II deficiency [RCV001488066] Chr16:10907862 [GRCh38]
Chr16:11001719 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.351C>T (p.Asp117=) single nucleotide variant MHC class II deficiency [RCV001488117] Chr16:10898725 [GRCh38]
Chr16:10992582 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1680C>T (p.Ala560=) single nucleotide variant MHC class II deficiency [RCV001451736] Chr16:10907172 [GRCh38]
Chr16:11001029 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2970-7C>T single nucleotide variant CIITA-related condition [RCV003965835]|MHC class II deficiency [RCV001436473] Chr16:10916360 [GRCh38]
Chr16:11010217 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.924A>G (p.Arg308=) single nucleotide variant MHC class II deficiency [RCV001454424] Chr16:10903882 [GRCh38]
Chr16:10997739 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2772C>T (p.Ser924=) single nucleotide variant MHC class II deficiency [RCV001425330] Chr16:10909143 [GRCh38]
Chr16:11003000 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2691G>A (p.Glu897=) single nucleotide variant MHC class II deficiency [RCV001425368] Chr16:10909062 [GRCh38]
Chr16:11002919 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.780G>A (p.Val260=) single nucleotide variant MHC class II deficiency [RCV001471529] Chr16:10903738 [GRCh38]
Chr16:10997595 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3318-8C>T single nucleotide variant MHC class II deficiency [RCV001474021] Chr16:10923220 [GRCh38]
Chr16:11017077 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2046C>T (p.Ser682=) single nucleotide variant MHC class II deficiency [RCV001475575] Chr16:10907538 [GRCh38]
Chr16:11001395 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln) single nucleotide variant Inborn genetic diseases [RCV002568017]|MHC class II deficiency [RCV001511754] Chr16:10907876 [GRCh38]
Chr16:11001733 [GRCh37]
Chr16:16p13.13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000246.4(CIITA):c.2871A>G (p.Leu957=) single nucleotide variant MHC class II deficiency [RCV001436895] Chr16:10910242 [GRCh38]
Chr16:11004099 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2034C>T (p.Asp678=) single nucleotide variant MHC class II deficiency [RCV001403065] Chr16:10907526 [GRCh38]
Chr16:11001383 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.597G>A (p.Gln199=) single nucleotide variant MHC class II deficiency [RCV001465464] Chr16:10902153 [GRCh38]
Chr16:10996010 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.657C>T (p.Cys219=) single nucleotide variant MHC class II deficiency [RCV001471657] Chr16:10902686 [GRCh38]
Chr16:10996543 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.867C>T (p.Pro289=) single nucleotide variant MHC class II deficiency [RCV001488971] Chr16:10903825 [GRCh38]
Chr16:10997682 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3066G>A (p.Leu1022=) single nucleotide variant MHC class II deficiency [RCV001497257] Chr16:10918443 [GRCh38]
Chr16:11012300 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.632del (p.Pro211fs) deletion MHC class II deficiency [RCV001390506] Chr16:10902660 [GRCh38]
Chr16:10996517 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1329C>A (p.Pro443=) single nucleotide variant MHC class II deficiency [RCV001499610] Chr16:10906821 [GRCh38]
Chr16:11000678 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2388G>A (p.Leu796=) single nucleotide variant MHC class II deficiency [RCV001482993] Chr16:10907880 [GRCh38]
Chr16:11001737 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.30G>A (p.Gly10=) single nucleotide variant MHC class II deficiency [RCV001492885] Chr16:10877360 [GRCh38]
Chr16:10971217 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1557G>T (p.Pro519=) single nucleotide variant MHC class II deficiency [RCV001480767] Chr16:10907049 [GRCh38]
Chr16:11000906 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.79T>C (p.Leu27=) single nucleotide variant MHC class II deficiency [RCV001503469] Chr16:10895308 [GRCh38]
Chr16:10989165 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2097G>T (p.Pro699=) single nucleotide variant MHC class II deficiency [RCV001475739] Chr16:10907589 [GRCh38]
Chr16:11001446 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.834A>G (p.Pro278=) single nucleotide variant MHC class II deficiency [RCV001497770] Chr16:10903792 [GRCh38]
Chr16:10997649 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2014C>T (p.Gln672Ter) single nucleotide variant MHC class II deficiency [RCV001386216] Chr16:10907506 [GRCh38]
Chr16:11001363 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2319A>C (p.Leu773=) single nucleotide variant MHC class II deficiency [RCV001403450] Chr16:10907811 [GRCh38]
Chr16:11001668 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.200-8C>T single nucleotide variant MHC class II deficiency [RCV001503513] Chr16:10895661 [GRCh38]
Chr16:10989518 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.296-20G>A single nucleotide variant MHC class II deficiency [RCV001521627] Chr16:10898650 [GRCh38]
Chr16:10992507 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.492C>A (p.Pro164=) single nucleotide variant MHC class II deficiency [RCV001489368] Chr16:10902048 [GRCh38]
Chr16:10995905 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.773-7A>G single nucleotide variant MHC class II deficiency [RCV001475833] Chr16:10903724 [GRCh38]
Chr16:10997581 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1870C>T (p.Leu624=) single nucleotide variant MHC class II deficiency [RCV001481203] Chr16:10907362 [GRCh38]
Chr16:11001219 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.436+1G>A single nucleotide variant MHC class II deficiency [RCV001379491] Chr16:10899003 [GRCh38]
Chr16:10992860 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.36C>A (p.Tyr12Ter) single nucleotide variant MHC class II deficiency [RCV001390888] Chr16:10877366 [GRCh38]
Chr16:10971223 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1320C>T (p.Gly440=) single nucleotide variant MHC class II deficiency [RCV001398182] Chr16:10906812 [GRCh38]
Chr16:11000669 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.937+8C>T single nucleotide variant MHC class II deficiency [RCV001467270] Chr16:10903903 [GRCh38]
Chr16:10997760 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2796A>C (p.Gly932=) single nucleotide variant MHC class II deficiency [RCV001480773] Chr16:10909167 [GRCh38]
Chr16:11003024 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1593C>A (p.Gly531=) single nucleotide variant MHC class II deficiency [RCV001481058] Chr16:10907085 [GRCh38]
Chr16:11000942 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3318-4G>T single nucleotide variant MHC class II deficiency [RCV001464505] Chr16:10923224 [GRCh38]
Chr16:11017081 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.628+10G>T single nucleotide variant MHC class II deficiency [RCV001440515] Chr16:10902194 [GRCh38]
Chr16:10996051 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1483C>T (p.Leu495=) single nucleotide variant MHC class II deficiency [RCV001419576] Chr16:10906975 [GRCh38]
Chr16:11000832 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1557G>A (p.Pro519=) single nucleotide variant MHC class II deficiency [RCV001424529] Chr16:10907049 [GRCh38]
Chr16:11000906 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.681C>A (p.Ile227=) single nucleotide variant MHC class II deficiency [RCV001394138] Chr16:10902710 [GRCh38]
Chr16:10996567 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1917A>G (p.Gly639=) single nucleotide variant MHC class II deficiency [RCV001404401] Chr16:10907409 [GRCh38]
Chr16:11001266 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2778G>A (p.Lys926=) single nucleotide variant MHC class II deficiency [RCV001443247] Chr16:10909149 [GRCh38]
Chr16:11003006 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.678C>T (p.Pro226=) single nucleotide variant MHC class II deficiency [RCV001443296] Chr16:10902707 [GRCh38]
Chr16:10996564 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2052C>T (p.Asp684=) single nucleotide variant MHC class II deficiency [RCV001409211] Chr16:10907544 [GRCh38]
Chr16:11001401 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2298C>T (p.Pro766=) single nucleotide variant MHC class II deficiency [RCV001399320] Chr16:10907790 [GRCh38]
Chr16:11001647 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1695G>A (p.Glu565=) single nucleotide variant MHC class II deficiency [RCV001426191] Chr16:10907187 [GRCh38]
Chr16:11001044 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.360G>A (p.Lys120=) single nucleotide variant MHC class II deficiency [RCV001424998] Chr16:10898926 [GRCh38]
Chr16:10992783 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.957C>T (p.Thr319=) single nucleotide variant MHC class II deficiency [RCV001435608] Chr16:10904763 [GRCh38]
Chr16:10998620 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2481G>A (p.Gln827=) single nucleotide variant MHC class II deficiency [RCV001418548] Chr16:10907973 [GRCh38]
Chr16:11001830 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.618C>T (p.Asp206=) single nucleotide variant MHC class II deficiency [RCV001407044] Chr16:10902174 [GRCh38]
Chr16:10996031 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3153G>A (p.Leu1051=) single nucleotide variant MHC class II deficiency [RCV001448861]|not provided [RCV003405671] Chr16:10922170 [GRCh38]
Chr16:11016027 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1245G>A (p.Val415=) single nucleotide variant MHC class II deficiency [RCV001397831] Chr16:10906737 [GRCh38]
Chr16:11000594 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1950C>T (p.Leu650=) single nucleotide variant MHC class II deficiency [RCV001428906] Chr16:10907442 [GRCh38]
Chr16:11001299 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3327G>C (p.Thr1109=) single nucleotide variant MHC class II deficiency [RCV001404621] Chr16:10923237 [GRCh38]
Chr16:11017094 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.510T>C (p.Ser170=) single nucleotide variant MHC class II deficiency [RCV001448978] Chr16:10902066 [GRCh38]
Chr16:10995923 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1930C>T (p.Leu644=) single nucleotide variant MHC class II deficiency [RCV001402528] Chr16:10907422 [GRCh38]
Chr16:11001279 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.846C>T (p.Asp282=) single nucleotide variant MHC class II deficiency [RCV001418728] Chr16:10903804 [GRCh38]
Chr16:10997661 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1410C>T (p.Phe470=) single nucleotide variant MHC class II deficiency [RCV001449080] Chr16:10906902 [GRCh38]
Chr16:11000759 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1167A>G (p.Glu389=) single nucleotide variant MHC class II deficiency [RCV001425639] Chr16:10906659 [GRCh38]
Chr16:11000516 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3318-9C>G single nucleotide variant MHC class II deficiency [RCV001446817] Chr16:10923219 [GRCh38]
Chr16:11017076 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3234-7T>C single nucleotide variant MHC class II deficiency [RCV001410162] Chr16:10922400 [GRCh38]
Chr16:11016257 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2889-9G>A single nucleotide variant MHC class II deficiency [RCV001436013] Chr16:10915561 [GRCh38]
Chr16:11009418 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1062A>G (p.Ala354=) single nucleotide variant MHC class II deficiency [RCV001426697] Chr16:10906554 [GRCh38]
Chr16:11000411 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1431C>G (p.Leu477=) single nucleotide variant MHC class II deficiency [RCV001444589] Chr16:10906923 [GRCh38]
Chr16:11000780 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.938-4C>T single nucleotide variant MHC class II deficiency [RCV001447145] Chr16:10904740 [GRCh38]
Chr16:10998597 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1878G>A (p.Glu626=) single nucleotide variant MHC class II deficiency [RCV001410535] Chr16:10907370 [GRCh38]
Chr16:11001227 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3126C>G (p.Leu1042=) single nucleotide variant MHC class II deficiency [RCV001423697] Chr16:10918503 [GRCh38]
Chr16:11012360 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.359-2A>G single nucleotide variant MHC class II deficiency [RCV001379544] Chr16:10898923 [GRCh38]
Chr16:10992780 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.738T>A (p.Ala246=) single nucleotide variant MHC class II deficiency [RCV001444522] Chr16:10902767 [GRCh38]
Chr16:10996624 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.801C>T (p.Pro267=) single nucleotide variant MHC class II deficiency [RCV001403070] Chr16:10903759 [GRCh38]
Chr16:10997616 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2865G>A (p.Arg955=) single nucleotide variant MHC class II deficiency [RCV001403091] Chr16:10910236 [GRCh38]
Chr16:11004093 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.714T>C (p.His238=) single nucleotide variant MHC class II deficiency [RCV001425311] Chr16:10902743 [GRCh38]
Chr16:10996600 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1842C>T (p.Cys614=) single nucleotide variant MHC class II deficiency [RCV001447265] Chr16:10907334 [GRCh38]
Chr16:11001191 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1083G>A (p.Val361=) single nucleotide variant MHC class II deficiency [RCV001392948] Chr16:10906575 [GRCh38]
Chr16:11000432 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2888+34C>T single nucleotide variant MHC class II deficiency [RCV001543026] Chr16:10910293 [GRCh38]
Chr16:11004150 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.2970-74G>T single nucleotide variant MHC class II deficiency [RCV001543028] Chr16:10916293 [GRCh38]
Chr16:11010150 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.327C>T (p.Ser109=) single nucleotide variant MHC class II deficiency [RCV001399921] Chr16:10898701 [GRCh38]
Chr16:10992558 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1240C>T (p.Arg414Ter) single nucleotide variant MHC class II deficiency [RCV001385360] Chr16:10906732 [GRCh38]
Chr16:11000589 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1284T>C (p.Tyr428=) single nucleotide variant MHC class II deficiency [RCV001431572] Chr16:10906776 [GRCh38]
Chr16:11000633 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.937+8C>G single nucleotide variant MHC class II deficiency [RCV001444993] Chr16:10903903 [GRCh38]
Chr16:10997760 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1173G>A (p.Gln391=) single nucleotide variant MHC class II deficiency [RCV001445057] Chr16:10906665 [GRCh38]
Chr16:11000522 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3318-27G>A single nucleotide variant MHC class II deficiency [RCV001543029] Chr16:10923201 [GRCh38]
Chr16:11017058 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.489C>A (p.Pro163=) single nucleotide variant MHC class II deficiency [RCV001429445] Chr16:10902045 [GRCh38]
Chr16:10995902 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.773-9C>T single nucleotide variant MHC class II deficiency [RCV001429447] Chr16:10903722 [GRCh38]
Chr16:10997579 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.558A>G (p.Pro186=) single nucleotide variant MHC class II deficiency [RCV001442221] Chr16:10902114 [GRCh38]
Chr16:10995971 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1329C>G (p.Pro443=) single nucleotide variant MHC class II deficiency [RCV001431717] Chr16:10906821 [GRCh38]
Chr16:11000678 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.891G>A (p.Leu297=) single nucleotide variant MHC class II deficiency [RCV001438887] Chr16:10903849 [GRCh38]
Chr16:10997706 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3318-10C>G single nucleotide variant MHC class II deficiency [RCV001431579] Chr16:10923218 [GRCh38]
Chr16:11017075 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2523G>T (p.Thr841=) single nucleotide variant MHC class II deficiency [RCV001445107] Chr16:10908015 [GRCh38]
Chr16:11001872 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2997C>T (p.Ile999=) single nucleotide variant MHC class II deficiency [RCV001410912] Chr16:10916394 [GRCh38]
Chr16:11010251 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1615C>A (p.Arg539=) single nucleotide variant MHC class II deficiency [RCV001437789] Chr16:10907107 [GRCh38]
Chr16:11000964 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1007-10G>C single nucleotide variant MHC class II deficiency [RCV001401380] Chr16:10906489 [GRCh38]
Chr16:11000346 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.744A>T (p.Thr248=) single nucleotide variant MHC class II deficiency [RCV001440154] Chr16:10902773 [GRCh38]
Chr16:10996630 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1716G>A (p.Glu572=) single nucleotide variant MHC class II deficiency [RCV001429330] Chr16:10907208 [GRCh38]
Chr16:11001065 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1524T>C (p.Asp508=) single nucleotide variant MHC class II deficiency [RCV001448036] Chr16:10907016 [GRCh38]
Chr16:11000873 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2523G>A (p.Thr841=) single nucleotide variant MHC class II deficiency [RCV001406124] Chr16:10908015 [GRCh38]
Chr16:11001872 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1203G>A (p.Leu401=) single nucleotide variant MHC class II deficiency [RCV001408555] Chr16:10906695 [GRCh38]
Chr16:11000552 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.546G>T (p.Leu182=) single nucleotide variant MHC class II deficiency [RCV001398545] Chr16:10902102 [GRCh38]
Chr16:10995959 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1065C>G (p.Gly355=) single nucleotide variant MHC class II deficiency [RCV001416333] Chr16:10906557 [GRCh38]
Chr16:11000414 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2115G>A (p.Glu705=) single nucleotide variant MHC class II deficiency [RCV001429432] Chr16:10907607 [GRCh38]
Chr16:11001464 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3204T>C (p.Leu1068=) single nucleotide variant MHC class II deficiency [RCV001445553] Chr16:10922221 [GRCh38]
Chr16:11016078 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1407C>T (p.Leu469=) single nucleotide variant MHC class II deficiency [RCV001411379] Chr16:10906899 [GRCh38]
Chr16:11000756 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2322C>A (p.Leu774=) single nucleotide variant MHC class II deficiency [RCV001398629] Chr16:10907814 [GRCh38]
Chr16:11001671 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.870C>T (p.Phe290=) single nucleotide variant MHC class II deficiency [RCV001445413] Chr16:10903828 [GRCh38]
Chr16:10997685 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1503C>T (p.Phe501=) single nucleotide variant MHC class II deficiency [RCV001440510] Chr16:10906995 [GRCh38]
Chr16:11000852 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1557G>C (p.Pro519=) single nucleotide variant MHC class II deficiency [RCV001432084] Chr16:10907049 [GRCh38]
Chr16:11000906 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1032A>T (p.Ser344=) single nucleotide variant MHC class II deficiency [RCV001408971] Chr16:10906524 [GRCh38]
Chr16:11000381 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.53-5C>A single nucleotide variant CIITA-related condition [RCV003953778]|MHC class II deficiency [RCV001424369] Chr16:10895277 [GRCh38]
Chr16:10989134 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3147_3149+2del deletion MHC class II deficiency [RCV001378847] Chr16:10918523..10918527 [GRCh38]
Chr16:11012380..11012384 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.1033C>T (p.Leu345=) single nucleotide variant MHC class II deficiency [RCV001439181] Chr16:10906525 [GRCh38]
Chr16:11000382 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.438C>T (p.Pro146=) single nucleotide variant MHC class II deficiency [RCV001402927] Chr16:10901515 [GRCh38]
Chr16:10995372 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3387G>C (p.Leu1129=) single nucleotide variant MHC class II deficiency [RCV001408912] Chr16:10923297 [GRCh38]
Chr16:11017154 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.300A>G (p.Glu100=) single nucleotide variant MHC class II deficiency [RCV001448451] Chr16:10898674 [GRCh38]
Chr16:10992531 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1575C>G (p.Leu525=) single nucleotide variant MHC class II deficiency [RCV001402978] Chr16:10907067 [GRCh38]
Chr16:11000924 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1965G>A (p.Gly655=) single nucleotide variant MHC class II deficiency [RCV001404338] Chr16:10907457 [GRCh38]
Chr16:11001314 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1929C>A (p.Gly643=) single nucleotide variant MHC class II deficiency [RCV001432384] Chr16:10907421 [GRCh38]
Chr16:11001278 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1225C>A (p.Arg409=) single nucleotide variant MHC class II deficiency [RCV001443388] Chr16:10906717 [GRCh38]
Chr16:11000574 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1488C>T (p.Leu496=) single nucleotide variant MHC class II deficiency [RCV001448520] Chr16:10906980 [GRCh38]
Chr16:11000837 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2820G>A (p.Thr940=) single nucleotide variant MHC class II deficiency [RCV001448601] Chr16:10910191 [GRCh38]
Chr16:11004048 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1413C>T (p.Ser471=) single nucleotide variant MHC class II deficiency [RCV001495141] Chr16:10906905 [GRCh38]
Chr16:11000762 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1563G>A (p.Glu521=) single nucleotide variant MHC class II deficiency [RCV001461479] Chr16:10907055 [GRCh38]
Chr16:11000912 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3276C>T (p.Leu1092=) single nucleotide variant MHC class II deficiency [RCV001501986] Chr16:10922449 [GRCh38]
Chr16:11016306 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.648G>A (p.Ser216=) single nucleotide variant MHC class II deficiency [RCV001454361] Chr16:10902677 [GRCh38]
Chr16:10996534 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2091C>T (p.His697=) single nucleotide variant MHC class II deficiency [RCV001458097] Chr16:10907583 [GRCh38]
Chr16:11001440 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1194T>G (p.Ala398=) single nucleotide variant MHC class II deficiency [RCV001450945] Chr16:10906686 [GRCh38]
Chr16:11000543 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2562G>A (p.Ala854=) single nucleotide variant MHC class II deficiency [RCV001490624] Chr16:10908054 [GRCh38]
Chr16:11001911 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2751C>T (p.Ile917=) single nucleotide variant CIITA-related condition [RCV003965885]|MHC class II deficiency [RCV001451228] Chr16:10909122 [GRCh38]
Chr16:11002979 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.822C>T (p.Val274=) single nucleotide variant MHC class II deficiency [RCV001486361] Chr16:10903780 [GRCh38]
Chr16:10997637 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.471C>T (p.His157=) single nucleotide variant MHC class II deficiency [RCV001495818] Chr16:10901548 [GRCh38]
Chr16:10995405 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1890C>T (p.Asp630=) single nucleotide variant MHC class II deficiency [RCV001491122] Chr16:10907382 [GRCh38]
Chr16:11001239 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1773A>G (p.Gln591=) single nucleotide variant MHC class II deficiency [RCV001465962] Chr16:10907265 [GRCh38]
Chr16:11001122 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.615C>T (p.Thr205=) single nucleotide variant MHC class II deficiency [RCV001476887] Chr16:10902171 [GRCh38]
Chr16:10996028 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3342C>T (p.Phe1114=) single nucleotide variant MHC class II deficiency [RCV001455519] Chr16:10923252 [GRCh38]
Chr16:11017109 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3036C>G (p.Pro1012=) single nucleotide variant MHC class II deficiency [RCV001504179] Chr16:10916433 [GRCh38]
Chr16:11010290 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.978G>A (p.Glu326=) single nucleotide variant MHC class II deficiency [RCV001460301] Chr16:10904784 [GRCh38]
Chr16:10998641 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.954C>G (p.Pro318=) single nucleotide variant MHC class II deficiency [RCV001477423] Chr16:10904760 [GRCh38]
Chr16:10998617 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.63G>A (p.Gln21=) single nucleotide variant MHC class II deficiency [RCV001460128] Chr16:10895292 [GRCh38]
Chr16:10989149 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3318-7C>T single nucleotide variant MHC class II deficiency [RCV001488219] Chr16:10923221 [GRCh38]
Chr16:11017078 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1206G>A (p.Leu402=) single nucleotide variant MHC class II deficiency [RCV001488473] Chr16:10906698 [GRCh38]
Chr16:11000555 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.489C>G (p.Pro163=) single nucleotide variant MHC class II deficiency [RCV001484493] Chr16:10902045 [GRCh38]
Chr16:10995902 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.606G>A (p.Leu202=) single nucleotide variant MHC class II deficiency [RCV001467278] Chr16:10902162 [GRCh38]
Chr16:10996019 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1224G>A (p.Arg408=) single nucleotide variant MHC class II deficiency [RCV001460662] Chr16:10906716 [GRCh38]
Chr16:11000573 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1734G>T (p.Val578=) single nucleotide variant MHC class II deficiency [RCV001460888] Chr16:10907226 [GRCh38]
Chr16:11001083 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1044G>C (p.Thr348=) single nucleotide variant MHC class II deficiency [RCV001505582] Chr16:10906536 [GRCh38]
Chr16:11000393 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.773-5T>C single nucleotide variant MHC class II deficiency [RCV001468103] Chr16:10903726 [GRCh38]
Chr16:10997583 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1581G>A (p.Gly527=) single nucleotide variant MHC class II deficiency [RCV001478352] Chr16:10907073 [GRCh38]
Chr16:11000930 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3300T>C (p.Pro1100=) single nucleotide variant MHC class II deficiency [RCV001481443] Chr16:10922473 [GRCh38]
Chr16:11016330 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1962C>G (p.Pro654=) single nucleotide variant MHC class II deficiency [RCV001501877] Chr16:10907454 [GRCh38]
Chr16:11001311 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.21C>A (p.Arg7=) single nucleotide variant MHC class II deficiency [RCV001425328] Chr16:10877351 [GRCh38]
Chr16:10971208 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3183C>A (p.Ala1061=) single nucleotide variant MHC class II deficiency [RCV001442035] Chr16:10922200 [GRCh38]
Chr16:11016057 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3162C>T (p.Asn1054=) single nucleotide variant MHC class II deficiency [RCV001499868] Chr16:10922179 [GRCh38]
Chr16:11016036 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1968C>A (p.Ala656=) single nucleotide variant MHC class II deficiency [RCV001399527] Chr16:10907460 [GRCh38]
Chr16:11001317 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2421G>A (p.Leu807=) single nucleotide variant MHC class II deficiency [RCV001469586] Chr16:10907913 [GRCh38]
Chr16:11001770 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1752C>T (p.Ser584=) single nucleotide variant MHC class II deficiency [RCV001469895] Chr16:10907244 [GRCh38]
Chr16:11001101 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.798A>G (p.Val266=) single nucleotide variant MHC class II deficiency [RCV001490251] Chr16:10903756 [GRCh38]
Chr16:10997613 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2976T>C (p.Asp992=) single nucleotide variant MHC class II deficiency [RCV001490329] Chr16:10916373 [GRCh38]
Chr16:11010230 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2112C>G (p.Ser704=) single nucleotide variant MHC class II deficiency [RCV001424815] Chr16:10907604 [GRCh38]
Chr16:11001461 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.312T>C (p.Tyr104=) single nucleotide variant MHC class II deficiency [RCV001405695] Chr16:10898686 [GRCh38]
Chr16:10992543 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2937C>A (p.Ile979=) single nucleotide variant MHC class II deficiency [RCV001453019] Chr16:10915618 [GRCh38]
Chr16:11009475 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1026C>T (p.Tyr342=) single nucleotide variant MHC class II deficiency [RCV001427189] Chr16:10906518 [GRCh38]
Chr16:11000375 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2956C>T (p.Leu986=) single nucleotide variant MHC class II deficiency [RCV001468990] Chr16:10915637 [GRCh38]
Chr16:11009494 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1011G>A (p.Pro337=) single nucleotide variant MHC class II deficiency [RCV001451222] Chr16:10906503 [GRCh38]
Chr16:11000360 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.693C>T (p.Pro231=) single nucleotide variant MHC class II deficiency [RCV001491274] Chr16:10902722 [GRCh38]
Chr16:10996579 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.200-4C>T single nucleotide variant MHC class II deficiency [RCV001451280] Chr16:10895665 [GRCh38]
Chr16:10989522 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3062+14G>T single nucleotide variant MHC class II deficiency [RCV001510099] Chr16:10916473 [GRCh38]
Chr16:11010330 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.531C>T (p.Ser177=) single nucleotide variant MHC class II deficiency [RCV001510522] Chr16:10902087 [GRCh38]
Chr16:10995944 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.1204T>C (p.Leu402=) single nucleotide variant MHC class II deficiency [RCV001455805] Chr16:10906696 [GRCh38]
Chr16:11000553 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.276G>A (p.Arg92=) single nucleotide variant MHC class II deficiency [RCV001453169] Chr16:10895745 [GRCh38]
Chr16:10989602 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3149+8G>A single nucleotide variant MHC class II deficiency [RCV001453954] Chr16:10918534 [GRCh38]
Chr16:11012391 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3354A>G (p.Glu1118=) single nucleotide variant MHC class II deficiency [RCV001455832] Chr16:10923264 [GRCh38]
Chr16:11017121 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2317C>T (p.Leu773=) single nucleotide variant MHC class II deficiency [RCV001477963] Chr16:10907809 [GRCh38]
Chr16:11001666 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3132A>C (p.Ala1044=) single nucleotide variant MHC class II deficiency [RCV001460725] Chr16:10918509 [GRCh38]
Chr16:11012366 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.295+18C>T single nucleotide variant MHC class II deficiency [RCV001404173] Chr16:10895782 [GRCh38]
Chr16:10989639 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2298C>A (p.Pro766=) single nucleotide variant MHC class II deficiency [RCV001406732] Chr16:10907790 [GRCh38]
Chr16:11001647 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.358+8T>A single nucleotide variant MHC class II deficiency [RCV001392991] Chr16:10898740 [GRCh38]
Chr16:10992597 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2149C>T (p.Leu717=) single nucleotide variant MHC class II deficiency [RCV001417626] Chr16:10907641 [GRCh38]
Chr16:11001498 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1911C>T (p.Leu637=) single nucleotide variant MHC class II deficiency [RCV001438255] Chr16:10907403 [GRCh38]
Chr16:11001260 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1680C>A (p.Ala560=) single nucleotide variant MHC class II deficiency [RCV001440792] Chr16:10907172 [GRCh38]
Chr16:11001029 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2683C>T (p.Leu895=) single nucleotide variant MHC class II deficiency [RCV001454325] Chr16:10909054 [GRCh38]
Chr16:11002911 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1497C>T (p.Asp499=) single nucleotide variant MHC class II deficiency [RCV001503772] Chr16:10906989 [GRCh38]
Chr16:11000846 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3216G>A (p.Val1072=) single nucleotide variant MHC class II deficiency [RCV001438729] Chr16:10922233 [GRCh38]
Chr16:11016090 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.773-18T>G single nucleotide variant MHC class II deficiency [RCV001517637] Chr16:10903713 [GRCh38]
Chr16:10997570 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.1701C>T (p.Ser567=) single nucleotide variant MHC class II deficiency [RCV001398519] Chr16:10907193 [GRCh38]
Chr16:11001050 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1717C>T (p.Gln573Ter) single nucleotide variant MHC class II deficiency [RCV001385767] Chr16:10907209 [GRCh38]
Chr16:11001066 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.543C>T (p.Thr181=) single nucleotide variant MHC class II deficiency [RCV001407152] Chr16:10902099 [GRCh38]
Chr16:10995956 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1582C>T (p.Leu528=) single nucleotide variant MHC class II deficiency [RCV001503989] Chr16:10907074 [GRCh38]
Chr16:11000931 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2907C>G (p.Gly969=) single nucleotide variant MHC class II deficiency [RCV001435098] Chr16:10915588 [GRCh38]
Chr16:11009445 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.954C>A (p.Pro318=) single nucleotide variant MHC class II deficiency [RCV001404819] Chr16:10904760 [GRCh38]
Chr16:10998617 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3099C>T (p.Tyr1033=) single nucleotide variant MHC class II deficiency [RCV001404873] Chr16:10918476 [GRCh38]
Chr16:11012333 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2448C>G (p.Ala816=) single nucleotide variant MHC class II deficiency [RCV001485447] Chr16:10907940 [GRCh38]
Chr16:11001797 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3183C>T (p.Ala1061=) single nucleotide variant MHC class II deficiency [RCV001418987] Chr16:10922200 [GRCh38]
Chr16:11016057 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.938-2A>G single nucleotide variant MHC class II deficiency [RCV001379510] Chr16:10904742 [GRCh38]
Chr16:10998599 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.1255C>T (p.Leu419=) single nucleotide variant MHC class II deficiency [RCV001484029] Chr16:10906747 [GRCh38]
Chr16:11000604 [GRCh37]
Chr16:16p13.13		 likely benign
NC_000016.10:g.10877045G>A single nucleotide variant MHC class II deficiency [RCV001518204] Chr16:10877045 [GRCh38]
Chr16:10970902 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.1044G>A (p.Thr348=) single nucleotide variant MHC class II deficiency [RCV001435537] Chr16:10906536 [GRCh38]
Chr16:11000393 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2706T>C (p.His902=) single nucleotide variant MHC class II deficiency [RCV001435575] Chr16:10909077 [GRCh38]
Chr16:11002934 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1962C>T (p.Pro654=) single nucleotide variant MHC class II deficiency [RCV001462382] Chr16:10907454 [GRCh38]
Chr16:11001311 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2532T>C (p.Asp844=) single nucleotide variant MHC class II deficiency [RCV002186373] Chr16:10908024 [GRCh38]
Chr16:11001881 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1552G>A (p.Ala518Thr) single nucleotide variant MHC class II deficiency [RCV001907770] Chr16:10907044 [GRCh38]
Chr16:11000901 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2470C>G (p.His824Asp) single nucleotide variant MHC class II deficiency [RCV001863949] Chr16:10907962 [GRCh38]
Chr16:11001819 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.112C>T (p.Leu38Phe) single nucleotide variant MHC class II deficiency [RCV001971735] Chr16:10895341 [GRCh38]
Chr16:10989198 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.847C>A (p.Arg283=) single nucleotide variant MHC class II deficiency [RCV002003994] Chr16:10903805 [GRCh38]
Chr16:10997662 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.1963G>A (p.Gly655Arg) single nucleotide variant MHC class II deficiency [RCV001915421] Chr16:10907455 [GRCh38]
Chr16:11001312 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.971C>T (p.Ala324Val) single nucleotide variant MHC class II deficiency [RCV002008336] Chr16:10904777 [GRCh38]
Chr16:10998634 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1226G>A (p.Arg409Gln) single nucleotide variant MHC class II deficiency [RCV001915243] Chr16:10906718 [GRCh38]
Chr16:11000575 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1888G>A (p.Asp630Asn) single nucleotide variant MHC class II deficiency [RCV002044996] Chr16:10907380 [GRCh38]
Chr16:11001237 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2081T>C (p.Leu694Ser) single nucleotide variant MHC class II deficiency [RCV001863860] Chr16:10907573 [GRCh38]
Chr16:11001430 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3318G>A (p.Ala1106=) single nucleotide variant MHC class II deficiency [RCV001970353] Chr16:10923228 [GRCh38]
Chr16:11017085 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2677G>A (p.Val893Met) single nucleotide variant MHC class II deficiency [RCV002025670] Chr16:10909048 [GRCh38]
Chr16:11002905 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3346G>A (p.Val1116Ile) single nucleotide variant MHC class II deficiency [RCV002044827] Chr16:10923256 [GRCh38]
Chr16:11017113 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.923G>A (p.Arg308Gln) single nucleotide variant MHC class II deficiency [RCV001946556] Chr16:10903881 [GRCh38]
Chr16:10997738 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.904G>C (p.Glu302Gln) single nucleotide variant MHC class II deficiency [RCV001895607] Chr16:10903862 [GRCh38]
Chr16:10997719 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.446A>G (p.Glu149Gly) single nucleotide variant MHC class II deficiency [RCV001894774] Chr16:10901523 [GRCh38]
Chr16:10995380 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.276G>T (p.Arg92Ser) single nucleotide variant MHC class II deficiency [RCV001908372] Chr16:10895745 [GRCh38]
Chr16:10989602 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.533A>T (p.Asp178Val) single nucleotide variant MHC class II deficiency [RCV001889367] Chr16:10902089 [GRCh38]
Chr16:10995946 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.452T>C (p.Leu151Pro) single nucleotide variant MHC class II deficiency [RCV001967240] Chr16:10901529 [GRCh38]
Chr16:10995386 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.974G>A (p.Gly325Glu) single nucleotide variant MHC class II deficiency [RCV002002575] Chr16:10904780 [GRCh38]
Chr16:10998637 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.594C>G (p.Gly198=) single nucleotide variant MHC class II deficiency [RCV001966004] Chr16:10902150 [GRCh38]
Chr16:10996007 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2410C>T (p.Arg804Trp) single nucleotide variant MHC class II deficiency [RCV001967870] Chr16:10907902 [GRCh38]
Chr16:11001759 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2422G>C (p.Glu808Gln) single nucleotide variant MHC class II deficiency [RCV001911209] Chr16:10907914 [GRCh38]
Chr16:11001771 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1863dup (p.Glu622fs) duplication MHC class II deficiency [RCV001946582] Chr16:10907354..10907355 [GRCh38]
Chr16:11001211..11001212 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1287G>C (p.Trp429Cys) single nucleotide variant MHC class II deficiency [RCV001947656] Chr16:10906779 [GRCh38]
Chr16:11000636 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.632C>A (p.Pro211His) single nucleotide variant MHC class II deficiency [RCV001983201] Chr16:10902661 [GRCh38]
Chr16:10996518 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2693C>A (p.Ser898Tyr) single nucleotide variant MHC class II deficiency [RCV002042258] Chr16:10909064 [GRCh38]
Chr16:11002921 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.680T>C (p.Ile227Thr) single nucleotide variant MHC class II deficiency [RCV001891543] Chr16:10902709 [GRCh38]
Chr16:10996566 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1843C>T (p.Arg615Trp) single nucleotide variant MHC class II deficiency [RCV001907898] Chr16:10907335 [GRCh38]
Chr16:11001192 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1538G>A (p.Ser513Asn) single nucleotide variant MHC class II deficiency [RCV001893528] Chr16:10907030 [GRCh38]
Chr16:11000887 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2686T>C (p.Trp896Arg) single nucleotide variant MHC class II deficiency [RCV001895458] Chr16:10909057 [GRCh38]
Chr16:11002914 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.802C>G (p.Pro268Ala) single nucleotide variant MHC class II deficiency [RCV001913530] Chr16:10903760 [GRCh38]
Chr16:10997617 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2515C>G (p.Arg839Gly) single nucleotide variant MHC class II deficiency [RCV001928373]|MHC class II deficiency [RCV002490277] Chr16:10908007 [GRCh38]
Chr16:11001864 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2755C>G (p.Pro919Ala) single nucleotide variant MHC class II deficiency [RCV001873108] Chr16:10909126 [GRCh38]
Chr16:11002983 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2625C>G (p.Ser875Arg) single nucleotide variant MHC class II deficiency [RCV002007014] Chr16:10908117 [GRCh38]
Chr16:11001974 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1813C>T (p.Leu605Phe) single nucleotide variant MHC class II deficiency [RCV001909346] Chr16:10907305 [GRCh38]
Chr16:11001162 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2320C>T (p.Leu774Phe) single nucleotide variant MHC class II deficiency [RCV001948155] Chr16:10907812 [GRCh38]
Chr16:11001669 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1307C>A (p.Ala436Asp) single nucleotide variant MHC class II deficiency [RCV002043763] Chr16:10906799 [GRCh38]
Chr16:11000656 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2490del (p.Gly831fs) deletion MHC class II deficiency [RCV001982956] Chr16:10907979 [GRCh38]
Chr16:11001836 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2717A>G (p.Lys906Arg) single nucleotide variant MHC class II deficiency [RCV001968496] Chr16:10909088 [GRCh38]
Chr16:11002945 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2816+5G>C single nucleotide variant MHC class II deficiency [RCV001948192] Chr16:10909192 [GRCh38]
Chr16:11003049 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1739G>A (p.Arg580His) single nucleotide variant MHC class II deficiency [RCV001911197] Chr16:10907231 [GRCh38]
Chr16:11001088 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.297G>A (p.Ala99=) single nucleotide variant MHC class II deficiency [RCV001908818] Chr16:10898671 [GRCh38]
Chr16:10992528 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3317+11G>T single nucleotide variant MHC class II deficiency [RCV002002480] Chr16:10922501 [GRCh38]
Chr16:11016358 [GRCh37]
Chr16:16p13.13		 likely benign
NC_000016.9:g.(?_8829597)_(11650586_?)dup duplication Charcot-Marie-Tooth disease type 1C [RCV003120793]|MHC class II deficiency [RCV002000309] Chr16:8829597..11650586 [GRCh37]
Chr16:16p13.2-13.13		 uncertain significance
NM_000246.4(CIITA):c.937+13A>G single nucleotide variant MHC class II deficiency [RCV001941790] Chr16:10903908 [GRCh38]
Chr16:10997765 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1962del (p.Ala656fs) deletion MHC class II deficiency [RCV001999747] Chr16:10907448 [GRCh38]
Chr16:11001305 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1253T>C (p.Val418Ala) single nucleotide variant MHC class II deficiency [RCV001997596] Chr16:10906745 [GRCh38]
Chr16:11000602 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.365T>C (p.Ile122Thr) single nucleotide variant MHC class II deficiency [RCV001959755] Chr16:10898931 [GRCh38]
Chr16:10992788 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1787C>T (p.Thr596Met) single nucleotide variant Inborn genetic diseases [RCV002552747]|MHC class II deficiency [RCV001877542] Chr16:10907279 [GRCh38]
Chr16:11001136 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3361C>T (p.Gln1121Ter) single nucleotide variant MHC class II deficiency [RCV001943314] Chr16:10923271 [GRCh38]
Chr16:11017128 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.160A>G (p.Met54Val) single nucleotide variant MHC class II deficiency [RCV001888641] Chr16:10895389 [GRCh38]
Chr16:10989246 [GRCh37]
Chr16:16p13.13		 uncertain significance
NC_000016.9:g.(?_10971045)_(11018850_?)del deletion MHC class II deficiency [RCV001942004] Chr16:10971045..11018850 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1502_1511del (p.Phe501fs) deletion MHC class II deficiency [RCV001963051] Chr16:10906991..10907000 [GRCh38]
Chr16:11000848..11000857 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2828_2829insTG (p.Ser944fs) insertion MHC class II deficiency [RCV001963060] Chr16:10910199..10910200 [GRCh38]
Chr16:11004056..11004057 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.3206C>T (p.Pro1069Leu) single nucleotide variant MHC class II deficiency [RCV001941157] Chr16:10922223 [GRCh38]
Chr16:11016080 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.917C>T (p.Thr306Ile) single nucleotide variant MHC class II deficiency [RCV001941255] Chr16:10903875 [GRCh38]
Chr16:10997732 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1629C>T (p.Leu543=) single nucleotide variant MHC class II deficiency [RCV001866569] Chr16:10907121 [GRCh38]
Chr16:11000978 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2919C>G (p.Phe973Leu) single nucleotide variant MHC class II deficiency [RCV001937760] Chr16:10915600 [GRCh38]
Chr16:11009457 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2526del (p.Pro843fs) deletion MHC class II deficiency [RCV001939482] Chr16:10908018 [GRCh38]
Chr16:11001875 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1019A>G (p.Gln340Arg) single nucleotide variant MHC class II deficiency [RCV001888802] Chr16:10906511 [GRCh38]
Chr16:11000368 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.481+10G>T single nucleotide variant MHC class II deficiency [RCV002026383] Chr16:10901568 [GRCh38]
Chr16:10995425 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2229G>T (p.Lys743Asn) single nucleotide variant MHC class II deficiency [RCV002033785] Chr16:10907721 [GRCh38]
Chr16:11001578 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2770T>A (p.Ser924Thr) single nucleotide variant MHC class II deficiency [RCV001962759] Chr16:10909141 [GRCh38]
Chr16:11002998 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1067C>T (p.Pro356Leu) single nucleotide variant MHC class II deficiency [RCV001953998] Chr16:10906559 [GRCh38]
Chr16:11000416 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2709G>C (p.Gly903=) single nucleotide variant MHC class II deficiency [RCV001905269] Chr16:10909080 [GRCh38]
Chr16:11002937 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3290G>A (p.Arg1097Gln) single nucleotide variant MHC class II deficiency [RCV001877288] Chr16:10922463 [GRCh38]
Chr16:11016320 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2889-1G>T single nucleotide variant MHC class II deficiency [RCV001992300] Chr16:10915569 [GRCh38]
Chr16:11009426 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.1054G>C (p.Glu352Gln) single nucleotide variant MHC class II deficiency [RCV001954497] Chr16:10906546 [GRCh38]
Chr16:11000403 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1939C>A (p.Arg647Ser) single nucleotide variant MHC class II deficiency [RCV001922444] Chr16:10907431 [GRCh38]
Chr16:11001288 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1891G>T (p.Ala631Ser) single nucleotide variant MHC class II deficiency [RCV001877852] Chr16:10907383 [GRCh38]
Chr16:11001240 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.635T>C (p.Phe212Ser) single nucleotide variant MHC class II deficiency [RCV002013390] Chr16:10902664 [GRCh38]
Chr16:10996521 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3376C>T (p.Arg1126Trp) single nucleotide variant MHC class II deficiency [RCV001919664] Chr16:10923286 [GRCh38]
Chr16:11017143 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2365C>T (p.Leu789Phe) single nucleotide variant MHC class II deficiency [RCV002028792] Chr16:10907857 [GRCh38]
Chr16:11001714 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2985T>G (p.Ser995Arg) single nucleotide variant MHC class II deficiency [RCV002013571] Chr16:10916382 [GRCh38]
Chr16:11010239 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.395T>C (p.Met132Thr) single nucleotide variant MHC class II deficiency [RCV001934537] Chr16:10898961 [GRCh38]
Chr16:10992818 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.601C>T (p.Arg201Cys) single nucleotide variant MHC class II deficiency [RCV001937367] Chr16:10902157 [GRCh38]
Chr16:10996014 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2342C>G (p.Ser781Trp) single nucleotide variant MHC class II deficiency [RCV002013866] Chr16:10907834 [GRCh38]
Chr16:11001691 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3135C>T (p.Ser1045=) single nucleotide variant MHC class II deficiency [RCV001976531] Chr16:10918512 [GRCh38]
Chr16:11012369 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2740A>T (p.Lys914Ter) single nucleotide variant MHC class II deficiency [RCV001921092] Chr16:10909111 [GRCh38]
Chr16:11002968 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1222C>T (p.Arg408Trp) single nucleotide variant Inborn genetic diseases [RCV003365637]|MHC class II deficiency [RCV001996094] Chr16:10906714 [GRCh38]
Chr16:11000571 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2117T>G (p.Leu706Arg) single nucleotide variant MHC class II deficiency [RCV001940840] Chr16:10907609 [GRCh38]
Chr16:11001466 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.854G>A (p.Gly285Asp) single nucleotide variant MHC class II deficiency [RCV001977576] Chr16:10903812 [GRCh38]
Chr16:10997669 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1553C>T (p.Ala518Val) single nucleotide variant MHC class II deficiency [RCV001992404] Chr16:10907045 [GRCh38]
Chr16:11000902 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.802_803dup (p.Pro269fs) duplication MHC class II deficiency [RCV001972782] Chr16:10903756..10903757 [GRCh38]
Chr16:10997613..10997614 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2294C>G (p.Pro765Arg) single nucleotide variant MHC class II deficiency [RCV001951833] Chr16:10907786 [GRCh38]
Chr16:11001643 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1801C>T (p.Arg601Trp) single nucleotide variant MHC class II deficiency [RCV001959228] Chr16:10907293 [GRCh38]
Chr16:11001150 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.674G>A (p.Gly225Glu) single nucleotide variant Inborn genetic diseases [RCV002557788]|MHC class II deficiency [RCV001940446] Chr16:10902703 [GRCh38]
Chr16:10996560 [GRCh37]
Chr16:16p13.13		 uncertain significance
NC_000016.9:g.(?_11000336)_(11017160_?)del deletion MHC class II deficiency [RCV001932844] Chr16:11000336..11017160 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2965C>G (p.Leu989Val) single nucleotide variant MHC class II deficiency [RCV002048538] Chr16:10915646 [GRCh38]
Chr16:11009503 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.511C>G (p.Leu171Val) single nucleotide variant MHC class II deficiency [RCV001905390] Chr16:10902067 [GRCh38]
Chr16:10995924 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1981G>A (p.Ala661Thr) single nucleotide variant MHC class II deficiency [RCV002028741] Chr16:10907473 [GRCh38]
Chr16:11001330 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1508A>C (p.Glu503Ala) single nucleotide variant MHC class II deficiency [RCV001918461] Chr16:10907000 [GRCh38]
Chr16:11000857 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2266C>T (p.Arg756Cys) single nucleotide variant MHC class II deficiency [RCV001881719] Chr16:10907758 [GRCh38]
Chr16:11001615 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2671G>A (p.Asp891Asn) single nucleotide variant MHC class II deficiency [RCV001924811] Chr16:10909042 [GRCh38]
Chr16:11002899 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2473G>A (p.Val825Met) single nucleotide variant MHC class II deficiency [RCV001930546] Chr16:10907965 [GRCh38]
Chr16:11001822 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2935A>G (p.Ile979Val) single nucleotide variant MHC class II deficiency [RCV001955241] Chr16:10915616 [GRCh38]
Chr16:11009473 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1072G>A (p.Gly358Ser) single nucleotide variant MHC class II deficiency [RCV001921177] Chr16:10906564 [GRCh38]
Chr16:11000421 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.200-17G>A single nucleotide variant MHC class II deficiency [RCV001999205] Chr16:10895652 [GRCh38]
Chr16:10989509 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.199+1G>A single nucleotide variant MHC class II deficiency [RCV002019262] Chr16:10895429 [GRCh38]
Chr16:10989286 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.2053G>C (p.Val685Leu) single nucleotide variant MHC class II deficiency [RCV001903611] Chr16:10907545 [GRCh38]
Chr16:11001402 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.682C>T (p.Gln228Ter) single nucleotide variant MHC class II deficiency [RCV001956226] Chr16:10902711 [GRCh38]
Chr16:10996568 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1007-9C>A single nucleotide variant MHC class II deficiency [RCV001937798] Chr16:10906490 [GRCh38]
Chr16:11000347 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_000246.4(CIITA):c.647C>T (p.Ser216Leu) single nucleotide variant MHC class II deficiency [RCV002017087] Chr16:10902676 [GRCh38]
Chr16:10996533 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2053G>A (p.Val685Met) single nucleotide variant MHC class II deficiency [RCV001979999] Chr16:10907545 [GRCh38]
Chr16:11001402 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1739G>T (p.Arg580Leu) single nucleotide variant MHC class II deficiency [RCV001996655] Chr16:10907231 [GRCh38]
Chr16:11001088 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1383dup (p.Ala462fs) duplication MHC class II deficiency [RCV001904807] Chr16:10906874..10906875 [GRCh38]
Chr16:11000731..11000732 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2479C>T (p.Gln827Ter) single nucleotide variant MHC class II deficiency [RCV001960612] Chr16:10907971 [GRCh38]
Chr16:11001828 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1957C>T (p.Pro653Ser) single nucleotide variant MHC class II deficiency [RCV001879075] Chr16:10907449 [GRCh38]
Chr16:11001306 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.631C>T (p.Pro211Ser) single nucleotide variant MHC class II deficiency [RCV001920312]|MHC class II deficiency [RCV002478369] Chr16:10902660 [GRCh38]
Chr16:10996517 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1536_1537insTTGCGGTC (p.Ser513fs) insertion MHC class II deficiency [RCV001935827] Chr16:10907027..10907028 [GRCh38]
Chr16:11000884..11000885 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1738C>T (p.Arg580Cys) single nucleotide variant MHC class II deficiency [RCV001973813] Chr16:10907230 [GRCh38]
Chr16:11001087 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3127G>A (p.Ala1043Thr) single nucleotide variant MHC class II deficiency [RCV002010746] Chr16:10918504 [GRCh38]
Chr16:11012361 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1916G>T (p.Gly639Val) single nucleotide variant MHC class II deficiency [RCV001880295] Chr16:10907408 [GRCh38]
Chr16:11001265 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.654C>A (p.Ser218Arg) single nucleotide variant MHC class II deficiency [RCV002048212] Chr16:10902683 [GRCh38]
Chr16:10996540 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1324C>T (p.Leu442Phe) single nucleotide variant MHC class II deficiency [RCV001921706] Chr16:10906816 [GRCh38]
Chr16:11000673 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1009C>T (p.Pro337Ser) single nucleotide variant MHC class II deficiency [RCV001974022] Chr16:10906501 [GRCh38]
Chr16:11000358 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.385G>C (p.Gly129Arg) single nucleotide variant MHC class II deficiency [RCV001993046] Chr16:10898951 [GRCh38]
Chr16:10992808 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1389T>G (p.Tyr463Ter) single nucleotide variant MHC class II deficiency [RCV001919931] Chr16:10906881 [GRCh38]
Chr16:11000738 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2725C>A (p.Gln909Lys) single nucleotide variant MHC class II deficiency [RCV001935381] Chr16:10909096 [GRCh38]
Chr16:11002953 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.190C>T (p.Leu64Phe) single nucleotide variant MHC class II deficiency [RCV002014831] Chr16:10895419 [GRCh38]
Chr16:10989276 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1983C>T (p.Ala661=) single nucleotide variant MHC class II deficiency [RCV002071525] Chr16:10907475 [GRCh38]
Chr16:11001332 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3132A>G (p.Ala1044=) single nucleotide variant MHC class II deficiency [RCV002149335] Chr16:10918509 [GRCh38]
Chr16:11012366 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.987C>T (p.Asn329=) single nucleotide variant MHC class II deficiency [RCV002185122] Chr16:10904793 [GRCh38]
Chr16:10998650 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1969C>T (p.Leu657=) single nucleotide variant MHC class II deficiency [RCV002091244] Chr16:10907461 [GRCh38]
Chr16:11001318 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1168C>A (p.Arg390=) single nucleotide variant MHC class II deficiency [RCV002187964] Chr16:10906660 [GRCh38]
Chr16:11000517 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.772+12G>A single nucleotide variant MHC class II deficiency [RCV002110518] Chr16:10902813 [GRCh38]
Chr16:10996670 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.2969+9A>T single nucleotide variant MHC class II deficiency [RCV002086462] Chr16:10915659 [GRCh38]
Chr16:11009516 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2969+9A>G single nucleotide variant MHC class II deficiency [RCV002072376] Chr16:10915659 [GRCh38]
Chr16:11009516 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.772+12del deletion MHC class II deficiency [RCV002147771] Chr16:10902810 [GRCh38]
Chr16:10996667 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.3063-4G>A single nucleotide variant MHC class II deficiency [RCV002111285] Chr16:10918436 [GRCh38]
Chr16:11012293 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1467G>A (p.Lys489=) single nucleotide variant MHC class II deficiency [RCV002189954] Chr16:10906959 [GRCh38]
Chr16:11000816 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.717G>A (p.Gly239=) single nucleotide variant MHC class II deficiency [RCV002210450] Chr16:10902746 [GRCh38]
Chr16:10996603 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1006+9T>C single nucleotide variant MHC class II deficiency [RCV002169310] Chr16:10904821 [GRCh38]
Chr16:10998678 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3318-14_3318-8dup duplication CIITA-related condition [RCV003913608]|MHC class II deficiency [RCV002205739] Chr16:10923210..10923211 [GRCh38]
Chr16:11017067..11017068 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3147A>G (p.Leu1049=) single nucleotide variant MHC class II deficiency [RCV002107088] Chr16:10918524 [GRCh38]
Chr16:11012381 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3234-4C>A single nucleotide variant MHC class II deficiency [RCV002128374] Chr16:10922403 [GRCh38]
Chr16:11016260 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2308C>T (p.Leu770=) single nucleotide variant MHC class II deficiency [RCV002209161] Chr16:10907800 [GRCh38]
Chr16:11001657 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.938-8A>G single nucleotide variant MHC class II deficiency [RCV002207248] Chr16:10904736 [GRCh38]
Chr16:10998593 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.52+14G>A single nucleotide variant MHC class II deficiency [RCV002191302] Chr16:10877396 [GRCh38]
Chr16:10971253 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.437-5T>C single nucleotide variant MHC class II deficiency [RCV002147104] Chr16:10901509 [GRCh38]
Chr16:10995366 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3366A>G (p.Gln1122=) single nucleotide variant MHC class II deficiency [RCV002084738] Chr16:10923276 [GRCh38]
Chr16:11017133 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2883G>A (p.Glu961=) single nucleotide variant MHC class II deficiency [RCV002209844] Chr16:10910254 [GRCh38]
Chr16:11004111 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3072G>A (p.Gln1024=) single nucleotide variant MHC class II deficiency [RCV002073933] Chr16:10918449 [GRCh38]
Chr16:11012306 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1437G>C (p.Ala479=) single nucleotide variant MHC class II deficiency [RCV002104543] Chr16:10906929 [GRCh38]
Chr16:11000786 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3042G>A (p.Leu1014=) single nucleotide variant MHC class II deficiency [RCV002109194] Chr16:10916439 [GRCh38]
Chr16:11010296 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3313C>T (p.Leu1105=) single nucleotide variant MHC class II deficiency [RCV002110534] Chr16:10922486 [GRCh38]
Chr16:11016343 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3233+11G>A single nucleotide variant MHC class II deficiency [RCV002109489] Chr16:10922261 [GRCh38]
Chr16:11016118 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2394G>T (p.Pro798=) single nucleotide variant MHC class II deficiency [RCV002209474] Chr16:10907886 [GRCh38]
Chr16:11001743 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.514C>T (p.Leu172=) single nucleotide variant MHC class II deficiency [RCV002189968] Chr16:10902070 [GRCh38]
Chr16:10995927 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2097G>A (p.Pro699=) single nucleotide variant MHC class II deficiency [RCV002168997] Chr16:10907589 [GRCh38]
Chr16:11001446 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3225G>A (p.Arg1075=) single nucleotide variant MHC class II deficiency [RCV002128123] Chr16:10922242 [GRCh38]
Chr16:11016099 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1476C>T (p.Asp492=) single nucleotide variant MHC class II deficiency [RCV002189052] Chr16:10906968 [GRCh38]
Chr16:11000825 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2760C>T (p.Phe920=) single nucleotide variant MHC class II deficiency [RCV002080069] Chr16:10909131 [GRCh38]
Chr16:11002988 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2970-10C>T single nucleotide variant MHC class II deficiency [RCV002079659] Chr16:10916357 [GRCh38]
Chr16:11010214 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.200-15G>A single nucleotide variant MHC class II deficiency [RCV002080198] Chr16:10895654 [GRCh38]
Chr16:10989511 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3042G>C (p.Leu1014=) single nucleotide variant MHC class II deficiency [RCV002094374] Chr16:10916439 [GRCh38]
Chr16:11010296 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2247C>T (p.Asn749=) single nucleotide variant MHC class II deficiency [RCV002149995] Chr16:10907739 [GRCh38]
Chr16:11001596 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.52+9G>T single nucleotide variant MHC class II deficiency [RCV002185541] Chr16:10877391 [GRCh38]
Chr16:10971248 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3174C>T (p.Asp1058=) single nucleotide variant MHC class II deficiency [RCV002213151] Chr16:10922191 [GRCh38]
Chr16:11016048 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2404C>A (p.Arg802=) single nucleotide variant MHC class II deficiency [RCV002089817] Chr16:10907896 [GRCh38]
Chr16:11001753 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.972T>A (p.Ala324=) single nucleotide variant MHC class II deficiency [RCV002093952] Chr16:10904778 [GRCh38]
Chr16:10998635 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.996A>G (p.Pro332=) single nucleotide variant MHC class II deficiency [RCV002191959] Chr16:10904802 [GRCh38]
Chr16:10998659 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3063-7C>T single nucleotide variant MHC class II deficiency [RCV002212091] Chr16:10918433 [GRCh38]
Chr16:11012290 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1866G>A (p.Glu622=) single nucleotide variant MHC class II deficiency [RCV002109957] Chr16:10907358 [GRCh38]
Chr16:11001215 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1536C>T (p.His512=) single nucleotide variant MHC class II deficiency [RCV002169703] Chr16:10907028 [GRCh38]
Chr16:11000885 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3149+12C>A single nucleotide variant MHC class II deficiency [RCV002171477] Chr16:10918538 [GRCh38]
Chr16:11012395 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1222C>A (p.Arg408=) single nucleotide variant MHC class II deficiency [RCV002192270] Chr16:10906714 [GRCh38]
Chr16:11000571 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2400A>T (p.Thr800=) single nucleotide variant MHC class II deficiency [RCV002172112] Chr16:10907892 [GRCh38]
Chr16:11001749 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.528G>A (p.Val176=) single nucleotide variant MHC class II deficiency [RCV002194076] Chr16:10902084 [GRCh38]
Chr16:10995941 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3318-12C>G single nucleotide variant MHC class II deficiency [RCV002174031] Chr16:10923216 [GRCh38]
Chr16:11017073 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.537C>T (p.Cys179=) single nucleotide variant MHC class II deficiency [RCV002078873] Chr16:10902093 [GRCh38]
Chr16:10995950 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1941T>C (p.Arg647=) single nucleotide variant MHC class II deficiency [RCV002094157] Chr16:10907433 [GRCh38]
Chr16:11001290 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2416C>T (p.Leu806=) single nucleotide variant MHC class II deficiency [RCV002190660] Chr16:10907908 [GRCh38]
Chr16:11001765 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1227G>A (p.Arg409=) single nucleotide variant MHC class II deficiency [RCV002146909] Chr16:10906719 [GRCh38]
Chr16:11000576 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.296-10G>C single nucleotide variant MHC class II deficiency [RCV002077765] Chr16:10898660 [GRCh38]
Chr16:10992517 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1101G>A (p.Gln367=) single nucleotide variant MHC class II deficiency [RCV002173504] Chr16:10906593 [GRCh38]
Chr16:11000450 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2658-8C>T single nucleotide variant MHC class II deficiency [RCV002195608] Chr16:10909021 [GRCh38]
Chr16:11002878 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.436+7G>A single nucleotide variant MHC class II deficiency [RCV002085745] Chr16:10899009 [GRCh38]
Chr16:10992866 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3233+12A>G single nucleotide variant MHC class II deficiency [RCV002090538] Chr16:10922262 [GRCh38]
Chr16:11016119 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2376C>T (p.Tyr792=) single nucleotide variant MHC class II deficiency [RCV002190829] Chr16:10907868 [GRCh38]
Chr16:11001725 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2067G>A (p.Ala689=) single nucleotide variant MHC class II deficiency [RCV002149467] Chr16:10907559 [GRCh38]
Chr16:11001416 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3150-19T>C single nucleotide variant MHC class II deficiency [RCV002152165] Chr16:10922148 [GRCh38]
Chr16:11016005 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3149+14C>T single nucleotide variant MHC class II deficiency [RCV002152196] Chr16:10918540 [GRCh38]
Chr16:11012397 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2490C>A (p.Pro830=) single nucleotide variant MHC class II deficiency [RCV002092590] Chr16:10907982 [GRCh38]
Chr16:11001839 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1551G>A (p.Pro517=) single nucleotide variant MHC class II deficiency [RCV002113510] Chr16:10907043 [GRCh38]
Chr16:11000900 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3233+13G>C single nucleotide variant MHC class II deficiency [RCV002195351] Chr16:10922263 [GRCh38]
Chr16:11016120 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.855C>T (p.Gly285=) single nucleotide variant MHC class II deficiency [RCV002213833] Chr16:10903813 [GRCh38]
Chr16:10997670 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2427G>A (p.Leu809=) single nucleotide variant MHC class II deficiency [RCV002194748] Chr16:10907919 [GRCh38]
Chr16:11001776 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2493C>T (p.Gly831=) single nucleotide variant MHC class II deficiency [RCV002111110] Chr16:10907985 [GRCh38]
Chr16:11001842 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.53-9C>G single nucleotide variant MHC class II deficiency [RCV002190043] Chr16:10895273 [GRCh38]
Chr16:10989130 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2322C>G (p.Leu774=) single nucleotide variant MHC class II deficiency [RCV002211801] Chr16:10907814 [GRCh38]
Chr16:11001671 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2475G>C (p.Val825=) single nucleotide variant MHC class II deficiency [RCV002092870] Chr16:10907967 [GRCh38]
Chr16:11001824 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.53-18C>A single nucleotide variant MHC class II deficiency [RCV002209855] Chr16:10895264 [GRCh38]
Chr16:10989121 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.831C>T (p.Leu277=) single nucleotide variant MHC class II deficiency [RCV002131973] Chr16:10903789 [GRCh38]
Chr16:10997646 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2280G>C (p.Gly760=) single nucleotide variant MHC class II deficiency [RCV002206688] Chr16:10907772 [GRCh38]
Chr16:11001629 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3066G>T (p.Leu1022=) single nucleotide variant MHC class II deficiency [RCV002115391] Chr16:10918443 [GRCh38]
Chr16:11012300 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2406G>A (p.Arg802=) single nucleotide variant MHC class II deficiency [RCV002174252] Chr16:10907898 [GRCh38]
Chr16:11001755 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1201C>T (p.Leu401=) single nucleotide variant MHC class II deficiency [RCV002188745] Chr16:10906693 [GRCh38]
Chr16:11000550 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1140G>C (p.Arg380=) single nucleotide variant MHC class II deficiency [RCV002171219] Chr16:10906632 [GRCh38]
Chr16:11000489 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2610C>T (p.Pro870=) single nucleotide variant MHC class II deficiency [RCV002185299] Chr16:10908102 [GRCh38]
Chr16:11001959 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2433C>T (p.His811=) single nucleotide variant MHC class II deficiency [RCV002167951] Chr16:10907925 [GRCh38]
Chr16:11001782 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.699C>A (p.Ile233=) single nucleotide variant MHC class II deficiency [RCV002096873] Chr16:10902728 [GRCh38]
Chr16:10996585 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2816+19G>A single nucleotide variant MHC class II deficiency [RCV002104742] Chr16:10909206 [GRCh38]
Chr16:11003063 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.481+7A>G single nucleotide variant MHC class II deficiency [RCV002148359] Chr16:10901565 [GRCh38]
Chr16:10995422 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1281C>T (p.Ser427=) single nucleotide variant MHC class II deficiency [RCV002080466] Chr16:10906773 [GRCh38]
Chr16:11000630 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.798A>C (p.Val266=) single nucleotide variant MHC class II deficiency [RCV002193467] Chr16:10903756 [GRCh38]
Chr16:10997613 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2889-9G>C single nucleotide variant MHC class II deficiency [RCV002197010] Chr16:10915561 [GRCh38]
Chr16:11009418 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2535A>T (p.Ala845=) single nucleotide variant MHC class II deficiency [RCV002108708] Chr16:10908027 [GRCh38]
Chr16:11001884 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.951C>T (p.Ser317=) single nucleotide variant MHC class II deficiency [RCV002093856] Chr16:10904757 [GRCh38]
Chr16:10998614 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2889-15C>T single nucleotide variant MHC class II deficiency [RCV002134813] Chr16:10915555 [GRCh38]
Chr16:11009412 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3317+10G>A single nucleotide variant MHC class II deficiency [RCV002195027] Chr16:10922500 [GRCh38]
Chr16:11016357 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3294G>A (p.Arg1098=) single nucleotide variant MHC class II deficiency [RCV002171072] Chr16:10922467 [GRCh38]
Chr16:11016324 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3317+7C>G single nucleotide variant MHC class II deficiency [RCV002138957] Chr16:10922497 [GRCh38]
Chr16:11016354 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3063-18C>T single nucleotide variant MHC class II deficiency [RCV002119368] Chr16:10918422 [GRCh38]
Chr16:11012279 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3198T>G (p.Arg1066=) single nucleotide variant MHC class II deficiency [RCV002175543] Chr16:10922215 [GRCh38]
Chr16:11016072 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.33C>A (p.Ser11=) single nucleotide variant MHC class II deficiency [RCV002218538] Chr16:10877363 [GRCh38]
Chr16:10971220 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2853C>T (p.Leu951=) single nucleotide variant MHC class II deficiency [RCV002141261] Chr16:10910224 [GRCh38]
Chr16:11004081 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2202G>A (p.Pro734=) single nucleotide variant MHC class II deficiency [RCV002156134] Chr16:10907694 [GRCh38]
Chr16:11001551 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1032A>C (p.Ser344=) single nucleotide variant MHC class II deficiency [RCV002100494] Chr16:10906524 [GRCh38]
Chr16:11000381 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1746T>C (p.Phe582=) single nucleotide variant MHC class II deficiency [RCV002156638] Chr16:10907238 [GRCh38]
Chr16:11001095 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3345T>C (p.Ser1115=) single nucleotide variant MHC class II deficiency [RCV002120376] Chr16:10923255 [GRCh38]
Chr16:11017112 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.609G>A (p.Glu203=) single nucleotide variant MHC class II deficiency [RCV002181992] Chr16:10902165 [GRCh38]
Chr16:10996022 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2816+9A>G single nucleotide variant MHC class II deficiency [RCV002182005] Chr16:10909196 [GRCh38]
Chr16:11003053 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2238C>T (p.Pro746=) single nucleotide variant MHC class II deficiency [RCV002199120] Chr16:10907730 [GRCh38]
Chr16:11001587 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.437-4G>A single nucleotide variant MHC class II deficiency [RCV002164750] Chr16:10901510 [GRCh38]
Chr16:10995367 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1542G>C (p.Thr514=) single nucleotide variant MHC class II deficiency [RCV002176922] Chr16:10907034 [GRCh38]
Chr16:11000891 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1071T>C (p.Asp357=) single nucleotide variant MHC class II deficiency [RCV002119325] Chr16:10906563 [GRCh38]
Chr16:11000420 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3150-17G>A single nucleotide variant MHC class II deficiency [RCV002176958] Chr16:10922150 [GRCh38]
Chr16:11016007 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2094A>G (p.Pro698=) single nucleotide variant MHC class II deficiency [RCV002182768] Chr16:10907586 [GRCh38]
Chr16:11001443 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1722C>G (p.Ala574=) single nucleotide variant MHC class II deficiency [RCV002119808] Chr16:10907214 [GRCh38]
Chr16:11001071 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3036C>T (p.Pro1012=) single nucleotide variant MHC class II deficiency [RCV002158229] Chr16:10916433 [GRCh38]
Chr16:11010290 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2223A>G (p.Pro741=) single nucleotide variant MHC class II deficiency [RCV002177893] Chr16:10907715 [GRCh38]
Chr16:11001572 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2496C>T (p.Arg832=) single nucleotide variant MHC class II deficiency [RCV002102556] Chr16:10907988 [GRCh38]
Chr16:11001845 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1176G>A (p.Leu392=) single nucleotide variant MHC class II deficiency [RCV002082059] Chr16:10906668 [GRCh38]
Chr16:11000525 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2657+7T>C single nucleotide variant MHC class II deficiency [RCV002204441] Chr16:10908156 [GRCh38]
Chr16:11002013 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1006+10G>A single nucleotide variant MHC class II deficiency [RCV002158697] Chr16:10904822 [GRCh38]
Chr16:10998679 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.937+20G>A single nucleotide variant MHC class II deficiency [RCV002183815] Chr16:10903915 [GRCh38]
Chr16:10997772 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.1006+11C>T single nucleotide variant MHC class II deficiency [RCV002164441] Chr16:10904823 [GRCh38]
Chr16:10998680 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1056G>A (p.Glu352=) single nucleotide variant MHC class II deficiency [RCV002138722] Chr16:10906548 [GRCh38]
Chr16:11000405 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.759A>T (p.Ile253=) single nucleotide variant MHC class II deficiency [RCV002082826] Chr16:10902788 [GRCh38]
Chr16:10996645 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3228G>A (p.Val1076=) single nucleotide variant MHC class II deficiency [RCV002218043] Chr16:10922245 [GRCh38]
Chr16:11016102 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3376C>A (p.Arg1126=) single nucleotide variant MHC class II deficiency [RCV002199294] Chr16:10923286 [GRCh38]
Chr16:11017143 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3326C>T (p.Thr1109Met) single nucleotide variant MHC class II deficiency [RCV003089157]|not specified [RCV002223072] Chr16:10923236 [GRCh38]
Chr16:11017093 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3219C>A (p.Ser1073=) single nucleotide variant MHC class II deficiency [RCV002160876] Chr16:10922236 [GRCh38]
Chr16:11016093 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.387T>G (p.Gly129=) single nucleotide variant MHC class II deficiency [RCV002099886] Chr16:10898953 [GRCh38]
Chr16:10992810 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2406G>T (p.Arg802=) single nucleotide variant MHC class II deficiency [RCV002157718] Chr16:10907898 [GRCh38]
Chr16:11001755 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2419C>T (p.Leu807=) single nucleotide variant MHC class II deficiency [RCV002197817] Chr16:10907911 [GRCh38]
Chr16:11001768 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1857G>A (p.Gln619=) single nucleotide variant MHC class II deficiency [RCV002198148] Chr16:10907349 [GRCh38]
Chr16:11001206 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3120T>C (p.Pro1040=) single nucleotide variant MHC class II deficiency [RCV002121628] Chr16:10918497 [GRCh38]
Chr16:11012354 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2385G>C (p.Arg795=) single nucleotide variant MHC class II deficiency [RCV002161431] Chr16:10907877 [GRCh38]
Chr16:11001734 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2157C>T (p.Ala719=) single nucleotide variant MHC class II deficiency [RCV002103969] Chr16:10907649 [GRCh38]
Chr16:11001506 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1698G>A (p.Leu566=) single nucleotide variant MHC class II deficiency [RCV002098682] Chr16:10907190 [GRCh38]
Chr16:11001047 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2637C>G (p.Leu879=) single nucleotide variant MHC class II deficiency [RCV002139836] Chr16:10908129 [GRCh38]
Chr16:11001986 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2965C>T (p.Leu989=) single nucleotide variant MHC class II deficiency [RCV002161751] Chr16:10915646 [GRCh38]
Chr16:11009503 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1200G>T (p.Val400=) single nucleotide variant MHC class II deficiency [RCV002219396] Chr16:10906692 [GRCh38]
Chr16:11000549 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1677G>A (p.Lys559=) single nucleotide variant MHC class II deficiency [RCV002082503] Chr16:10907169 [GRCh38]
Chr16:11001026 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2187G>A (p.Lys729=) single nucleotide variant MHC class II deficiency [RCV002157031] Chr16:10907679 [GRCh38]
Chr16:11001536 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1320C>G (p.Gly440=) single nucleotide variant MHC class II deficiency [RCV002138499] Chr16:10906812 [GRCh38]
Chr16:11000669 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1182A>G (p.Gln394=) single nucleotide variant MHC class II deficiency [RCV002183560] Chr16:10906674 [GRCh38]
Chr16:11000531 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.87C>A (p.Pro29=) single nucleotide variant MHC class II deficiency [RCV002183572] Chr16:10895316 [GRCh38]
Chr16:10989173 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1293G>C (p.Gly431=) single nucleotide variant MHC class II deficiency [RCV002217816] Chr16:10906785 [GRCh38]
Chr16:11000642 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3149+10del deletion MHC class II deficiency [RCV002122325] Chr16:10918533 [GRCh38]
Chr16:11012390 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.120C>T (p.Ser40=) single nucleotide variant MHC class II deficiency [RCV002181767] Chr16:10895349 [GRCh38]
Chr16:10989206 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.937+12T>C single nucleotide variant MHC class II deficiency [RCV002143766] Chr16:10903907 [GRCh38]
Chr16:10997764 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.888C>T (p.Asp296=) single nucleotide variant MHC class II deficiency [RCV002082922] Chr16:10903846 [GRCh38]
Chr16:10997703 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1119C>T (p.Ser373=) single nucleotide variant MHC class II deficiency [RCV002121197] Chr16:10906611 [GRCh38]
Chr16:11000468 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2517C>T (p.Arg839=) single nucleotide variant MHC class II deficiency [RCV002201430] Chr16:10908009 [GRCh38]
Chr16:11001866 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2325G>C (p.Gly775=) single nucleotide variant MHC class II deficiency [RCV002139006] Chr16:10907817 [GRCh38]
Chr16:11001674 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3063-5C>T single nucleotide variant MHC class II deficiency [RCV002156082] Chr16:10918435 [GRCh38]
Chr16:11012292 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.447G>A (p.Glu149=) single nucleotide variant MHC class II deficiency [RCV002183158] Chr16:10901524 [GRCh38]
Chr16:10995381 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3378G>C (p.Arg1126=) single nucleotide variant MHC class II deficiency [RCV002139564] Chr16:10923288 [GRCh38]
Chr16:11017145 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1275C>A (p.Gly425=) single nucleotide variant MHC class II deficiency [RCV002154127] Chr16:10906767 [GRCh38]
Chr16:11000624 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.200-5C>T single nucleotide variant MHC class II deficiency [RCV002203402] Chr16:10895664 [GRCh38]
Chr16:10989521 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2526T>A (p.Pro842=) single nucleotide variant MHC class II deficiency [RCV002183457] Chr16:10908018 [GRCh38]
Chr16:11001875 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.738T>C (p.Ala246=) single nucleotide variant MHC class II deficiency [RCV002198541] Chr16:10902767 [GRCh38]
Chr16:10996624 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3233+11dup duplication MHC class II deficiency [RCV002200415] Chr16:10922258..10922259 [GRCh38]
Chr16:11016115..11016116 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1059C>T (p.Pro353=) single nucleotide variant MHC class II deficiency [RCV002219665] Chr16:10906551 [GRCh38]
Chr16:11000408 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.52+8G>T single nucleotide variant MHC class II deficiency [RCV002184026] Chr16:10877390 [GRCh38]
Chr16:10971247 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3318-20A>C single nucleotide variant MHC class II deficiency [RCV002180023] Chr16:10923208 [GRCh38]
Chr16:11017065 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.938-6C>T single nucleotide variant MHC class II deficiency [RCV002099257] Chr16:10904738 [GRCh38]
Chr16:10998595 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1341T>C (p.Phe447=) single nucleotide variant MHC class II deficiency [RCV002101257] Chr16:10906833 [GRCh38]
Chr16:11000690 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.342G>A (p.Leu114=) single nucleotide variant MHC class II deficiency [RCV002099100] Chr16:10898716 [GRCh38]
Chr16:10992573 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2628C>T (p.Leu876=) single nucleotide variant MHC class II deficiency [RCV002099346] Chr16:10908120 [GRCh38]
Chr16:11001977 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1188C>A (p.Gly396=) single nucleotide variant MHC class II deficiency [RCV002160891] Chr16:10906680 [GRCh38]
Chr16:11000537 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2265A>G (p.Pro755=) single nucleotide variant MHC class II deficiency [RCV002176795] Chr16:10907757 [GRCh38]
Chr16:11001614 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3258T>G (p.Ala1086=) single nucleotide variant MHC class II deficiency [RCV002102856] Chr16:10922431 [GRCh38]
Chr16:11016288 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3062+16C>G single nucleotide variant MHC class II deficiency [RCV002102906] Chr16:10916475 [GRCh38]
Chr16:11010332 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2646C>T (p.Val882=) single nucleotide variant MHC class II deficiency [RCV002122550] Chr16:10908138 [GRCh38]
Chr16:11001995 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.295+12C>T single nucleotide variant MHC class II deficiency [RCV002163401] Chr16:10895776 [GRCh38]
Chr16:10989633 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.555G>A (p.Leu185=) single nucleotide variant MHC class II deficiency [RCV003118183] Chr16:10902111 [GRCh38]
Chr16:10995968 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1593C>G (p.Gly531=) single nucleotide variant MHC class II deficiency [RCV003112717] Chr16:10907085 [GRCh38]
Chr16:11000942 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.772+12G>T single nucleotide variant MHC class II deficiency [RCV003117140] Chr16:10902813 [GRCh38]
Chr16:10996670 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1043C>G (p.Thr348Arg) single nucleotide variant MHC class II deficiency [RCV003122009] Chr16:10906535 [GRCh38]
Chr16:11000392 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1548A>G (p.Gly516=) single nucleotide variant MHC class II deficiency [RCV003121459] Chr16:10907040 [GRCh38]
Chr16:11000897 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1060G>A (p.Ala354Thr) single nucleotide variant MHC class II deficiency [RCV003120057] Chr16:10906552 [GRCh38]
Chr16:11000409 [GRCh37]
Chr16:16p13.13		 uncertain significance
NC_000016.9:g.(?_10637407)_(10971259_?)del deletion MHC class II deficiency [RCV003122222] Chr16:10637407..10971259 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2027A>T (p.Gln676Leu) single nucleotide variant Inborn genetic diseases [RCV003101492]|MHC class II deficiency [RCV003096019]|not specified [RCV002266256] Chr16:10907519 [GRCh38]
Chr16:11001376 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2370G>C (p.Ala790=) single nucleotide variant MHC class II deficiency [RCV002771207] Chr16:10907862 [GRCh38]
Chr16:11001719 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2077G>C (p.Gly693Arg) single nucleotide variant MHC class II deficiency [RCV002303379] Chr16:10907569 [GRCh38]
Chr16:11001426 [GRCh37]
Chr16:16p13.13		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3 copy number gain not provided [RCV002474875] Chr16:10423631..12176517 [GRCh37]
Chr16:16p13.2-13.13		 uncertain significance
NM_000246.4(CIITA):c.2608C>T (p.Pro870Ser) single nucleotide variant not provided [RCV002300737] Chr16:10908100 [GRCh38]
Chr16:11001957 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1932G>C (p.Leu644=) single nucleotide variant MHC class II deficiency [RCV003014905] Chr16:10907424 [GRCh38]
Chr16:11001281 [GRCh37]
Chr16:16p13.13		 likely benign
NM_014015.4(DEXI):c.226C>T (p.Pro76Ser) single nucleotide variant Inborn genetic diseases [RCV002992352] Chr16:10941780 [GRCh38]
Chr16:11035637 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2525C>T (p.Pro842Leu) single nucleotide variant Inborn genetic diseases [RCV002731759] Chr16:10908017 [GRCh38]
Chr16:11001874 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.19C>A (p.Arg7Ser) single nucleotide variant MHC class II deficiency [RCV002615021] Chr16:10877349 [GRCh38]
Chr16:10971206 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1651G>C (p.Gly551Arg) single nucleotide variant MHC class II deficiency [RCV002816588] Chr16:10907143 [GRCh38]
Chr16:11001000 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1961C>A (p.Pro654His) single nucleotide variant MHC class II deficiency [RCV002681853] Chr16:10907453 [GRCh38]
Chr16:11001310 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1305G>A (p.Arg435=) single nucleotide variant MHC class II deficiency [RCV002862705] Chr16:10906797 [GRCh38]
Chr16:11000654 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2844T>C (p.Ala948=) single nucleotide variant MHC class II deficiency [RCV003074351] Chr16:10910215 [GRCh38]
Chr16:11004072 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.544C>T (p.Leu182=) single nucleotide variant MHC class II deficiency [RCV002857876] Chr16:10902100 [GRCh38]
Chr16:10995957 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2495G>A (p.Arg832His) single nucleotide variant MHC class II deficiency [RCV002993597] Chr16:10907987 [GRCh38]
Chr16:11001844 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2609C>T (p.Pro870Leu) single nucleotide variant MHC class II deficiency [RCV002614396] Chr16:10908101 [GRCh38]
Chr16:11001958 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2856T>A (p.Pro952=) single nucleotide variant MHC class II deficiency [RCV002993643] Chr16:10910227 [GRCh38]
Chr16:11004084 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.331C>G (p.Leu111Val) single nucleotide variant MHC class II deficiency [RCV003074735] Chr16:10898705 [GRCh38]
Chr16:10992562 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1423C>T (p.Gln475Ter) single nucleotide variant MHC class II deficiency [RCV002615300] Chr16:10906915 [GRCh38]
Chr16:11000772 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.52+19C>T single nucleotide variant MHC class II deficiency [RCV003074174] Chr16:10877401 [GRCh38]
Chr16:10971258 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1848A>G (p.Ala616=) single nucleotide variant MHC class II deficiency [RCV002755782] Chr16:10907340 [GRCh38]
Chr16:11001197 [GRCh37]
Chr16:16p13.13		 likely benign
NM_014015.4(DEXI):c.217C>T (p.Leu73Phe) single nucleotide variant Inborn genetic diseases [RCV002905213] Chr16:10941789 [GRCh38]
Chr16:11035646 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2970-4G>A single nucleotide variant MHC class II deficiency [RCV003074878] Chr16:10916363 [GRCh38]
Chr16:11010220 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3159T>C (p.Asn1053=) single nucleotide variant MHC class II deficiency [RCV002780068] Chr16:10922176 [GRCh38]
Chr16:11016033 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1537A>T (p.Ser513Cys) single nucleotide variant MHC class II deficiency [RCV002731432] Chr16:10907029 [GRCh38]
Chr16:11000886 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1975G>C (p.Glu659Gln) single nucleotide variant MHC class II deficiency [RCV003034117] Chr16:10907467 [GRCh38]
Chr16:11001324 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1891G>A (p.Ala631Thr) single nucleotide variant MHC class II deficiency [RCV003076908] Chr16:10907383 [GRCh38]
Chr16:11001240 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.133C>A (p.Leu45Met) single nucleotide variant MHC class II deficiency [RCV003075664] Chr16:10895362 [GRCh38]
Chr16:10989219 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3327G>T (p.Thr1109=) single nucleotide variant MHC class II deficiency [RCV002843544] Chr16:10923237 [GRCh38]
Chr16:11017094 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1977G>T (p.Glu659Asp) single nucleotide variant MHC class II deficiency [RCV002779999] Chr16:10907469 [GRCh38]
Chr16:11001326 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2066C>G (p.Ala689Gly) single nucleotide variant MHC class II deficiency [RCV002820004] Chr16:10907558 [GRCh38]
Chr16:11001415 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.937+2T>C single nucleotide variant MHC class II deficiency [RCV002908989] Chr16:10903897 [GRCh38]
Chr16:10997754 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.587_597del (p.Ala196fs) deletion MHC class II deficiency [RCV002862035] Chr16:10902138..10902148 [GRCh38]
Chr16:10995995..10996005 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.909T>C (p.Pro303=) single nucleotide variant MHC class II deficiency [RCV002837564] Chr16:10903867 [GRCh38]
Chr16:10997724 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.481+1G>A single nucleotide variant MHC class II deficiency [RCV002858358] Chr16:10901559 [GRCh38]
Chr16:10995416 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.3368A>G (p.Gln1123Arg) single nucleotide variant MHC class II deficiency [RCV002685986] Chr16:10923278 [GRCh38]
Chr16:11017135 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1615C>T (p.Arg539Ter) single nucleotide variant MHC class II deficiency [RCV002842596] Chr16:10907107 [GRCh38]
Chr16:11000964 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1689A>T (p.Leu563=) single nucleotide variant MHC class II deficiency [RCV003032556] Chr16:10907181 [GRCh38]
Chr16:11001038 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1615C>G (p.Arg539Gly) single nucleotide variant MHC class II deficiency [RCV002615027] Chr16:10907107 [GRCh38]
Chr16:11000964 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.888C>A (p.Asp296Glu) single nucleotide variant MHC class II deficiency [RCV002967505] Chr16:10903846 [GRCh38]
Chr16:10997703 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1776C>T (p.Asp592=) single nucleotide variant MHC class II deficiency [RCV002904894] Chr16:10907268 [GRCh38]
Chr16:11001125 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3289C>T (p.Arg1097Trp) single nucleotide variant Inborn genetic diseases [RCV002905698] Chr16:10922462 [GRCh38]
Chr16:11016319 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2411G>A (p.Arg804Gln) single nucleotide variant MHC class II deficiency [RCV003075398] Chr16:10907903 [GRCh38]
Chr16:11001760 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2799G>A (p.Lys933=) single nucleotide variant MHC class II deficiency [RCV002904494] Chr16:10909170 [GRCh38]
Chr16:11003027 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1337A>C (p.Asp446Ala) single nucleotide variant Inborn genetic diseases [RCV002732046] Chr16:10906829 [GRCh38]
Chr16:11000686 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2516G>A (p.Arg839His) single nucleotide variant MHC class II deficiency [RCV002771189] Chr16:10908008 [GRCh38]
Chr16:11001865 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1827C>T (p.His609=) single nucleotide variant MHC class II deficiency [RCV002975111] Chr16:10907319 [GRCh38]
Chr16:11001176 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.135G>A (p.Leu45=) single nucleotide variant MHC class II deficiency [RCV002880899] Chr16:10895364 [GRCh38]
Chr16:10989221 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.772+10G>A single nucleotide variant MHC class II deficiency [RCV002819029] Chr16:10902811 [GRCh38]
Chr16:10996668 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1580G>C (p.Gly527Ala) single nucleotide variant MHC class II deficiency [RCV003076283] Chr16:10907072 [GRCh38]
Chr16:11000929 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.323A>T (p.Asp108Val) single nucleotide variant MHC class II deficiency [RCV003014889] Chr16:10898697 [GRCh38]
Chr16:10992554 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.376G>T (p.Glu126Ter) single nucleotide variant MHC class II deficiency [RCV002593156] Chr16:10898942 [GRCh38]
Chr16:10992799 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2283G>T (p.Leu761=) single nucleotide variant MHC class II deficiency [RCV002785270] Chr16:10907775 [GRCh38]
Chr16:11001632 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.839C>T (p.Ser280Phe) single nucleotide variant MHC class II deficiency [RCV002740233] Chr16:10903797 [GRCh38]
Chr16:10997654 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_014015.4(DEXI):c.28C>G (p.Leu10Val) single nucleotide variant Inborn genetic diseases [RCV002784630] Chr16:10941978 [GRCh38]
Chr16:11035835 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3252C>T (p.Phe1084=) single nucleotide variant MHC class II deficiency [RCV003002577] Chr16:10922425 [GRCh38]
Chr16:11016282 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2340C>G (p.Ala780=) single nucleotide variant MHC class II deficiency [RCV002639880] Chr16:10907832 [GRCh38]
Chr16:11001689 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2430G>A (p.Leu810=) single nucleotide variant MHC class II deficiency [RCV002953430] Chr16:10907922 [GRCh38]
Chr16:11001779 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1956C>T (p.Ser652=) single nucleotide variant MHC class II deficiency [RCV002952691] Chr16:10907448 [GRCh38]
Chr16:11001305 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.164A>G (p.Asp55Gly) single nucleotide variant MHC class II deficiency [RCV002638465] Chr16:10895393 [GRCh38]
Chr16:10989250 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.456G>C (p.Pro152=) single nucleotide variant MHC class II deficiency [RCV003079454] Chr16:10901533 [GRCh38]
Chr16:10995390 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2817-11G>C single nucleotide variant MHC class II deficiency [RCV002706587] Chr16:10910177 [GRCh38]
Chr16:11004034 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1007-17G>A single nucleotide variant MHC class II deficiency [RCV002914367] Chr16:10906482 [GRCh38]
Chr16:11000339 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.451C>A (p.Leu151Ile) single nucleotide variant MHC class II deficiency [RCV002740035] Chr16:10901528 [GRCh38]
Chr16:10995385 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2786A>G (p.Glu929Gly) single nucleotide variant MHC class II deficiency [RCV002927781] Chr16:10909157 [GRCh38]
Chr16:11003014 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1336G>C (p.Asp446His) single nucleotide variant MHC class II deficiency [RCV003054202] Chr16:10906828 [GRCh38]
Chr16:11000685 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1250C>T (p.Ala417Val) single nucleotide variant MHC class II deficiency [RCV002786110] Chr16:10906742 [GRCh38]
Chr16:11000599 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1381G>C (p.Asp461His) single nucleotide variant MHC class II deficiency [RCV002636303] Chr16:10906873 [GRCh38]
Chr16:11000730 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2499C>T (p.Leu833=) single nucleotide variant MHC class II deficiency [RCV003003178] Chr16:10907991 [GRCh38]
Chr16:11001848 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2868C>T (p.Asp956=) single nucleotide variant MHC class II deficiency [RCV002889567] Chr16:10910239 [GRCh38]
Chr16:11004096 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2022C>A (p.Thr674=) single nucleotide variant MHC class II deficiency [RCV002740204] Chr16:10907514 [GRCh38]
Chr16:11001371 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2284A>C (p.Ile762Leu) single nucleotide variant Inborn genetic diseases [RCV002889019] Chr16:10907776 [GRCh38]
Chr16:11001633 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.772+1G>T single nucleotide variant MHC class II deficiency [RCV002740213] Chr16:10902802 [GRCh38]
Chr16:10996659 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.84G>A (p.Gly28=) single nucleotide variant MHC class II deficiency [RCV002800326] Chr16:10895313 [GRCh38]
Chr16:10989170 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.777G>A (p.Glu259=) single nucleotide variant MHC class II deficiency [RCV002846958] Chr16:10903735 [GRCh38]
Chr16:10997592 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2466G>A (p.Trp822Ter) single nucleotide variant MHC class II deficiency [RCV003019424] Chr16:10907958 [GRCh38]
Chr16:11001815 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2718G>C (p.Lys906Asn) single nucleotide variant MHC class II deficiency [RCV002781131] Chr16:10909089 [GRCh38]
Chr16:11002946 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3329C>A (p.Pro1110His) single nucleotide variant MHC class II deficiency [RCV003052817] Chr16:10923239 [GRCh38]
Chr16:11017096 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.912C>G (p.Ala304=) single nucleotide variant MHC class II deficiency [RCV003078308] Chr16:10903870 [GRCh38]
Chr16:10997727 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1698G>T (p.Leu566=) single nucleotide variant MHC class II deficiency [RCV002694863] Chr16:10907190 [GRCh38]
Chr16:11001047 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.52+12G>A single nucleotide variant MHC class II deficiency [RCV002638551] Chr16:10877394 [GRCh38]
Chr16:10971251 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1968C>T (p.Ala656=) single nucleotide variant MHC class II deficiency [RCV002638074] Chr16:10907460 [GRCh38]
Chr16:11001317 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2773C>A (p.Leu925Met) single nucleotide variant MHC class II deficiency [RCV002705500] Chr16:10909144 [GRCh38]
Chr16:11003001 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1788G>T (p.Thr596=) single nucleotide variant MHC class II deficiency [RCV002637867] Chr16:10907280 [GRCh38]
Chr16:11001137 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.513C>G (p.Leu171=) single nucleotide variant MHC class II deficiency [RCV002797383] Chr16:10902069 [GRCh38]
Chr16:10995926 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1608G>A (p.Lys536=) single nucleotide variant MHC class II deficiency [RCV002705691] Chr16:10907100 [GRCh38]
Chr16:11000957 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.458C>G (p.Ala153Gly) single nucleotide variant Inborn genetic diseases [RCV002868446] Chr16:10901535 [GRCh38]
Chr16:10995392 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2657+10G>C single nucleotide variant MHC class II deficiency [RCV002695593] Chr16:10908159 [GRCh38]
Chr16:11002016 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.145_147del (p.His49del) deletion MHC class II deficiency [RCV003053037] Chr16:10895372..10895374 [GRCh38]
Chr16:10989229..10989231 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.153T>C (p.Tyr51=) single nucleotide variant MHC class II deficiency [RCV002912716] Chr16:10895382 [GRCh38]
Chr16:10989239 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1295C>T (p.Ala432Val) single nucleotide variant Inborn genetic diseases [RCV002950621] Chr16:10906787 [GRCh38]
Chr16:11000644 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3234-13T>C single nucleotide variant MHC class II deficiency [RCV002913172] Chr16:10922394 [GRCh38]
Chr16:11016251 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2455G>C (p.Ala819Pro) single nucleotide variant MHC class II deficiency [RCV003078116] Chr16:10907947 [GRCh38]
Chr16:11001804 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1152C>T (p.Thr384=) single nucleotide variant MHC class II deficiency [RCV003021383] Chr16:10906644 [GRCh38]
Chr16:11000501 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2383C>T (p.Arg795Trp) single nucleotide variant MHC class II deficiency [RCV002619170] Chr16:10907875 [GRCh38]
Chr16:11001732 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2557G>A (p.Glu853Lys) single nucleotide variant MHC class II deficiency [RCV002999156] Chr16:10908049 [GRCh38]
Chr16:11001906 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1812T>C (p.Leu604=) single nucleotide variant MHC class II deficiency [RCV003019977] Chr16:10907304 [GRCh38]
Chr16:11001161 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2888+18T>C single nucleotide variant MHC class II deficiency [RCV003100411] Chr16:10910277 [GRCh38]
Chr16:11004134 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.378A>G (p.Glu126=) single nucleotide variant MHC class II deficiency [RCV002620231] Chr16:10898944 [GRCh38]
Chr16:10992801 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1719G>T (p.Gln573His) single nucleotide variant MHC class II deficiency [RCV003078772] Chr16:10907211 [GRCh38]
Chr16:11001068 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.532G>A (p.Asp178Asn) single nucleotide variant MHC class II deficiency [RCV002927467] Chr16:10902088 [GRCh38]
Chr16:10995945 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1847C>T (p.Ala616Val) single nucleotide variant Inborn genetic diseases [RCV002848792] Chr16:10907339 [GRCh38]
Chr16:11001196 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2161T>C (p.Trp721Arg) single nucleotide variant Inborn genetic diseases [RCV002782722] Chr16:10907653 [GRCh38]
Chr16:11001510 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1581G>T (p.Gly527=) single nucleotide variant MHC class II deficiency [RCV002952949] Chr16:10907073 [GRCh38]
Chr16:11000930 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.996A>C (p.Pro332=) single nucleotide variant MHC class II deficiency [RCV003021451] Chr16:10904802 [GRCh38]
Chr16:10998659 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.800C>T (p.Pro267Leu) single nucleotide variant Inborn genetic diseases [RCV002978912] Chr16:10903758 [GRCh38]
Chr16:10997615 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.701C>T (p.Ser234Phe) single nucleotide variant MHC class II deficiency [RCV002590629] Chr16:10902730 [GRCh38]
Chr16:10996587 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2400A>G (p.Thr800=) single nucleotide variant MHC class II deficiency [RCV002760140] Chr16:10907892 [GRCh38]
Chr16:11001749 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2514C>A (p.Thr838=) single nucleotide variant MHC class II deficiency [RCV002620610] Chr16:10908006 [GRCh38]
Chr16:11001863 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2554T>C (p.Leu852=) single nucleotide variant MHC class II deficiency [RCV002889284] Chr16:10908046 [GRCh38]
Chr16:11001903 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.543C>A (p.Thr181=) single nucleotide variant MHC class II deficiency [RCV002590653] Chr16:10902099 [GRCh38]
Chr16:10995956 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1461C>T (p.Ile487=) single nucleotide variant MHC class II deficiency [RCV002848384] Chr16:10906953 [GRCh38]
Chr16:11000810 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2781T>C (p.Asp927=) single nucleotide variant MHC class II deficiency [RCV003019193] Chr16:10909152 [GRCh38]
Chr16:11003009 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.57C>T (p.Ser19=) single nucleotide variant MHC class II deficiency [RCV002846472] Chr16:10895286 [GRCh38]
Chr16:10989143 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1107G>T (p.Arg369Ser) single nucleotide variant MHC class II deficiency [RCV003078670] Chr16:10906599 [GRCh38]
Chr16:11000456 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2553C>G (p.Ala851=) single nucleotide variant MHC class II deficiency [RCV003020415] Chr16:10908045 [GRCh38]
Chr16:11001902 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1578G>A (p.Arg526=) single nucleotide variant MHC class II deficiency [RCV003038397] Chr16:10907070 [GRCh38]
Chr16:11000927 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2657+6G>A single nucleotide variant MHC class II deficiency [RCV002620219] Chr16:10908155 [GRCh38]
Chr16:11002012 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.530G>C (p.Ser177Thr) single nucleotide variant Inborn genetic diseases [RCV002798890] Chr16:10902086 [GRCh38]
Chr16:10995943 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1956C>G (p.Ser652Arg) single nucleotide variant MHC class II deficiency [RCV002690549] Chr16:10907448 [GRCh38]
Chr16:11001305 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3149+6_3149+12del deletion MHC class II deficiency [RCV002695189] Chr16:10918532..10918538 [GRCh38]
Chr16:11012389..11012395 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2802T>C (p.Leu934=) single nucleotide variant MHC class II deficiency [RCV002979863] Chr16:10909173 [GRCh38]
Chr16:11003030 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.978G>C (p.Glu326Asp) single nucleotide variant MHC class II deficiency [RCV003078808] Chr16:10904784 [GRCh38]
Chr16:10998641 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2550G>A (p.Lys850=) single nucleotide variant MHC class II deficiency [RCV002913490] Chr16:10908042 [GRCh38]
Chr16:11001899 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.746G>A (p.Gly249Glu) single nucleotide variant MHC class II deficiency [RCV003017893] Chr16:10902775 [GRCh38]
Chr16:10996632 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.528G>C (p.Val176=) single nucleotide variant MHC class II deficiency [RCV002866325] Chr16:10902084 [GRCh38]
Chr16:10995941 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1806A>G (p.Pro602=) single nucleotide variant MHC class II deficiency [RCV002890096] Chr16:10907298 [GRCh38]
Chr16:11001155 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2888+7A>G single nucleotide variant MHC class II deficiency [RCV002745758] Chr16:10910266 [GRCh38]
Chr16:11004123 [GRCh37]
Chr16:16p13.13		 likely benign
NM_014015.4(DEXI):c.33C>A (p.Asp11Glu) single nucleotide variant Inborn genetic diseases [RCV002930519] Chr16:10941973 [GRCh38]
Chr16:11035830 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2522C>T (p.Thr841Met) single nucleotide variant MHC class II deficiency [RCV003058616] Chr16:10908014 [GRCh38]
Chr16:11001871 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2368G>T (p.Ala790Ser) single nucleotide variant MHC class II deficiency [RCV003059282] Chr16:10907860 [GRCh38]
Chr16:11001717 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1264G>T (p.Ala422Ser) single nucleotide variant MHC class II deficiency [RCV002576287] Chr16:10906756 [GRCh38]
Chr16:11000613 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1012G>A (p.Val338Met) single nucleotide variant MHC class II deficiency [RCV002932848] Chr16:10906504 [GRCh38]
Chr16:11000361 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2880G>T (p.Leu960=) single nucleotide variant MHC class II deficiency [RCV002745740] Chr16:10910251 [GRCh38]
Chr16:11004108 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1698G>C (p.Leu566=) single nucleotide variant MHC class II deficiency [RCV002745345] Chr16:10907190 [GRCh38]
Chr16:11001047 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3057C>T (p.Thr1019=) single nucleotide variant MHC class II deficiency [RCV003059757] Chr16:10916454 [GRCh38]
Chr16:11010311 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2988G>A (p.Glu996=) single nucleotide variant MHC class II deficiency [RCV002597381] Chr16:10916385 [GRCh38]
Chr16:11010242 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1922_1923del (p.Tyr641fs) deletion MHC class II deficiency [RCV003042644] Chr16:10907413..10907414 [GRCh38]
Chr16:11001270..11001271 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2922C>A (p.Pro974=) single nucleotide variant MHC class II deficiency [RCV003026114] Chr16:10915603 [GRCh38]
Chr16:11009460 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2T>G (p.Met1Arg) single nucleotide variant MHC class II deficiency [RCV003024572] Chr16:10877332 [GRCh38]
Chr16:10971189 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.872C>T (p.Ala291Val) single nucleotide variant Inborn genetic diseases [RCV002932476]|MHC class II deficiency [RCV002918738] Chr16:10903830 [GRCh38]
Chr16:10997687 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2072C>T (p.Ala691Val) single nucleotide variant MHC class II deficiency [RCV003084533] Chr16:10907564 [GRCh38]
Chr16:11001421 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2220C>G (p.Thr740=) single nucleotide variant MHC class II deficiency [RCV003059764] Chr16:10907712 [GRCh38]
Chr16:11001569 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2629G>A (p.Val877Met) single nucleotide variant MHC class II deficiency [RCV002958256] Chr16:10908121 [GRCh38]
Chr16:11001978 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2940C>G (p.Leu980=) single nucleotide variant MHC class II deficiency [RCV002645596] Chr16:10915621 [GRCh38]
Chr16:11009478 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.823C>T (p.His275Tyr) single nucleotide variant MHC class II deficiency [RCV002572437] Chr16:10903781 [GRCh38]
Chr16:10997638 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2765C>G (p.Ala922Gly) single nucleotide variant not provided [RCV002508698] Chr16:10909136 [GRCh38]
Chr16:11002993 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.306C>T (p.Asp102=) single nucleotide variant MHC class II deficiency [RCV003040797] Chr16:10898680 [GRCh38]
Chr16:10992537 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2987A>C (p.Glu996Ala) single nucleotide variant MHC class II deficiency [RCV002595444] Chr16:10916384 [GRCh38]
Chr16:11010241 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.359-9T>C single nucleotide variant MHC class II deficiency [RCV002890887] Chr16:10898916 [GRCh38]
Chr16:10992773 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3084T>C (p.Thr1028=) single nucleotide variant MHC class II deficiency [RCV002982683] Chr16:10918461 [GRCh38]
Chr16:11012318 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2049A>G (p.Ala683=) single nucleotide variant MHC class II deficiency [RCV003024557] Chr16:10907541 [GRCh38]
Chr16:11001398 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1642C>A (p.Arg548=) single nucleotide variant MHC class II deficiency [RCV002572204] Chr16:10907134 [GRCh38]
Chr16:11000991 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2079C>T (p.Gly693=) single nucleotide variant CIITA-related condition [RCV003973722]|MHC class II deficiency [RCV002640709] Chr16:10907571 [GRCh38]
Chr16:11001428 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1654C>A (p.Arg552Ser) single nucleotide variant MHC class II deficiency [RCV003022739] Chr16:10907146 [GRCh38]
Chr16:11001003 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2765C>T (p.Ala922Val) single nucleotide variant MHC class II deficiency [RCV003040688] Chr16:10909136 [GRCh38]
Chr16:11002993 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1303C>A (p.Arg435=) single nucleotide variant MHC class II deficiency [RCV003057811] Chr16:10906795 [GRCh38]
Chr16:11000652 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1587G>A (p.Leu529=) single nucleotide variant MHC class II deficiency [RCV002853270] Chr16:10907079 [GRCh38]
Chr16:11000936 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.295+17G>A single nucleotide variant MHC class II deficiency [RCV002576073] Chr16:10895781 [GRCh38]
Chr16:10989638 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2491G>A (p.Gly831Ser) single nucleotide variant Inborn genetic diseases [RCV003269446]|MHC class II deficiency [RCV003084508] Chr16:10907983 [GRCh38]
Chr16:11001840 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1924G>A (p.Val642Ile) single nucleotide variant MHC class II deficiency [RCV003083996] Chr16:10907416 [GRCh38]
Chr16:11001273 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2607C>T (p.Cys869=) single nucleotide variant MHC class II deficiency [RCV003057960] Chr16:10908099 [GRCh38]
Chr16:11001956 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1484T>G (p.Leu495Arg) single nucleotide variant MHC class II deficiency [RCV003058493] Chr16:10906976 [GRCh38]
Chr16:11000833 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.450G>A (p.Glu150=) single nucleotide variant MHC class II deficiency [RCV002853086] Chr16:10901527 [GRCh38]
Chr16:10995384 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1632C>T (p.Leu544=) single nucleotide variant MHC class II deficiency [RCV002876564] Chr16:10907124 [GRCh38]
Chr16:11000981 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1395G>A (p.Leu465=) single nucleotide variant MHC class II deficiency [RCV002894378] Chr16:10906887 [GRCh38]
Chr16:11000744 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1554A>C (p.Ala518=) single nucleotide variant MHC class II deficiency [RCV003056036] Chr16:10907046 [GRCh38]
Chr16:11000903 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1377G>A (p.Pro459=) single nucleotide variant MHC class II deficiency [RCV002663932] Chr16:10906869 [GRCh38]
Chr16:11000726 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.695C>A (p.Thr232Asn) single nucleotide variant MHC class II deficiency [RCV002829621] Chr16:10902724 [GRCh38]
Chr16:10996581 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1614C>G (p.Leu538=) single nucleotide variant MHC class II deficiency [RCV002894690] Chr16:10907106 [GRCh38]
Chr16:11000963 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2888+8A>G single nucleotide variant MHC class II deficiency [RCV003041858] Chr16:10910267 [GRCh38]
Chr16:11004124 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1576C>T (p.Arg526Trp) single nucleotide variant MHC class II deficiency [RCV002625881] Chr16:10907068 [GRCh38]
Chr16:11000925 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1049del (p.Gly350fs) deletion MHC class II deficiency [RCV002894160] Chr16:10906540 [GRCh38]
Chr16:11000397 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.3244A>G (p.Asn1082Asp) single nucleotide variant not provided [RCV002508544] Chr16:10922417 [GRCh38]
Chr16:11016274 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2562G>C (p.Ala854=) single nucleotide variant MHC class II deficiency [RCV002851695] Chr16:10908054 [GRCh38]
Chr16:11001911 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.295+14T>A single nucleotide variant MHC class II deficiency [RCV003025568] Chr16:10895778 [GRCh38]
Chr16:10989635 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2846G>T (p.Gly949Val) single nucleotide variant MHC class II deficiency [RCV003039983] Chr16:10910217 [GRCh38]
Chr16:11004074 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2157C>A (p.Ala719=) single nucleotide variant MHC class II deficiency [RCV002643938] Chr16:10907649 [GRCh38]
Chr16:11001506 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1321C>T (p.Arg441Trp) single nucleotide variant MHC class II deficiency [RCV002575893] Chr16:10906813 [GRCh38]
Chr16:11000670 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.129C>T (p.Asp43=) single nucleotide variant MHC class II deficiency [RCV003059006] Chr16:10895358 [GRCh38]
Chr16:10989215 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1880T>C (p.Leu627Pro) single nucleotide variant Inborn genetic diseases [RCV002891987] Chr16:10907372 [GRCh38]
Chr16:11001229 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.660G>C (p.Leu220=) single nucleotide variant MHC class II deficiency [RCV002957305] Chr16:10902689 [GRCh38]
Chr16:10996546 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1854C>T (p.Cys618=) single nucleotide variant MHC class II deficiency [RCV002918831] Chr16:10907346 [GRCh38]
Chr16:11001203 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3106G>A (p.Ala1036Thr) single nucleotide variant Inborn genetic diseases [RCV002763354] Chr16:10918483 [GRCh38]
Chr16:11012340 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2889-8C>T single nucleotide variant MHC class II deficiency [RCV003082111] Chr16:10915562 [GRCh38]
Chr16:11009419 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1974A>C (p.Ala658=) single nucleotide variant MHC class II deficiency [RCV002575456] Chr16:10907466 [GRCh38]
Chr16:11001323 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2763A>G (p.Lys921=) single nucleotide variant MHC class II deficiency [RCV003023191] Chr16:10909134 [GRCh38]
Chr16:11002991 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2114A>T (p.Glu705Val) single nucleotide variant MHC class II deficiency [RCV003055918] Chr16:10907606 [GRCh38]
Chr16:11001463 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2665T>C (p.Leu889=) single nucleotide variant MHC class II deficiency [RCV002791808] Chr16:10909036 [GRCh38]
Chr16:11002893 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3239A>G (p.Gln1080Arg) single nucleotide variant MHC class II deficiency [RCV002856508] Chr16:10922412 [GRCh38]
Chr16:11016269 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3149+8G>C single nucleotide variant MHC class II deficiency [RCV003047122] Chr16:10918534 [GRCh38]
Chr16:11012391 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2539G>C (p.Val847Leu) single nucleotide variant MHC class II deficiency [RCV002770535] Chr16:10908031 [GRCh38]
Chr16:11001888 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2048C>A (p.Ala683Glu) single nucleotide variant Inborn genetic diseases [RCV002808083] Chr16:10907540 [GRCh38]
Chr16:11001397 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1526G>A (p.Gly509Asp) single nucleotide variant MHC class II deficiency [RCV002579991] Chr16:10907018 [GRCh38]
Chr16:11000875 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1992C>T (p.Ala664=) single nucleotide variant MHC class II deficiency [RCV003047228] Chr16:10907484 [GRCh38]
Chr16:11001341 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1539C>T (p.Ser513=) single nucleotide variant MHC class II deficiency [RCV002810720] Chr16:10907031 [GRCh38]
Chr16:11000888 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.890T>G (p.Leu297Arg) single nucleotide variant MHC class II deficiency [RCV002967220] Chr16:10903848 [GRCh38]
Chr16:10997705 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2323G>A (p.Gly775Arg) single nucleotide variant MHC class II deficiency [RCV003090956] Chr16:10907815 [GRCh38]
Chr16:11001672 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2775_2777delinsTT (p.Lys926fs) indel MHC class II deficiency [RCV002716179] Chr16:10909146..10909148 [GRCh38]
Chr16:11003003..11003005 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2817-20A>T single nucleotide variant MHC class II deficiency [RCV003049440] Chr16:10910168 [GRCh38]
Chr16:11004025 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.436+10C>T single nucleotide variant MHC class II deficiency [RCV003064028] Chr16:10899012 [GRCh38]
Chr16:10992869 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2304C>A (p.Arg768=) single nucleotide variant MHC class II deficiency [RCV002632193] Chr16:10907796 [GRCh38]
Chr16:11001653 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.701C>G (p.Ser234Cys) single nucleotide variant MHC class II deficiency [RCV002632961] Chr16:10902730 [GRCh38]
Chr16:10996587 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1099C>T (p.Gln367Ter) single nucleotide variant MHC class II deficiency [RCV002810229] Chr16:10906591 [GRCh38]
Chr16:11000448 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.997A>G (p.Lys333Glu) single nucleotide variant MHC class II deficiency [RCV003064982] Chr16:10904803 [GRCh38]
Chr16:10998660 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2919C>T (p.Phe973=) single nucleotide variant MHC class II deficiency [RCV003030185] Chr16:10915600 [GRCh38]
Chr16:11009457 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2111C>T (p.Ser704Phe) single nucleotide variant MHC class II deficiency [RCV003091253] Chr16:10907603 [GRCh38]
Chr16:11001460 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1477C>T (p.Arg493Cys) single nucleotide variant MHC class II deficiency [RCV002632262] Chr16:10906969 [GRCh38]
Chr16:11000826 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3048C>A (p.Ser1016=) single nucleotide variant MHC class II deficiency [RCV002577019] Chr16:10916445 [GRCh38]
Chr16:11010302 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.279G>A (p.Glu93=) single nucleotide variant MHC class II deficiency [RCV002581862] Chr16:10895748 [GRCh38]
Chr16:10989605 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.53-15T>C single nucleotide variant MHC class II deficiency [RCV003044831] Chr16:10895267 [GRCh38]
Chr16:10989124 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.724C>A (p.Gln242Lys) single nucleotide variant MHC class II deficiency [RCV002599765] Chr16:10902753 [GRCh38]
Chr16:10996610 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.436C>T (p.Pro146Ser) single nucleotide variant MHC class II deficiency [RCV002629900] Chr16:10899002 [GRCh38]
Chr16:10992859 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1707C>T (p.Phe569=) single nucleotide variant MHC class II deficiency [RCV002578559] Chr16:10907199 [GRCh38]
Chr16:11001056 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1801C>A (p.Arg601=) single nucleotide variant MHC class II deficiency [RCV002922260] Chr16:10907293 [GRCh38]
Chr16:11001150 [GRCh37]
Chr16:16p13.13		 likely benign|uncertain significance
NM_014015.4(DEXI):c.26A>C (p.His9Pro) single nucleotide variant Inborn genetic diseases [RCV002714061] Chr16:10941980 [GRCh38]
Chr16:11035837 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2493C>G (p.Gly831=) single nucleotide variant MHC class II deficiency [RCV003009834] Chr16:10907985 [GRCh38]
Chr16:11001842 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3108C>A (p.Ala1036=) single nucleotide variant MHC class II deficiency [RCV002988441] Chr16:10918485 [GRCh38]
Chr16:11012342 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.195C>T (p.Tyr65=) single nucleotide variant MHC class II deficiency [RCV003029044] Chr16:10895424 [GRCh38]
Chr16:10989281 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.937+17C>T single nucleotide variant MHC class II deficiency [RCV003062711] Chr16:10903912 [GRCh38]
Chr16:10997769 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3016C>A (p.Gln1006Lys) single nucleotide variant MHC class II deficiency [RCV003060159] Chr16:10916413 [GRCh38]
Chr16:11010270 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1139G>A (p.Arg380Gln) single nucleotide variant MHC class II deficiency [RCV002599987] Chr16:10906631 [GRCh38]
Chr16:11000488 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.297G>T (p.Ala99=) single nucleotide variant MHC class II deficiency [RCV002833271] Chr16:10898671 [GRCh38]
Chr16:10992528 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2246A>G (p.Asn749Ser) single nucleotide variant Inborn genetic diseases [RCV002831131] Chr16:10907738 [GRCh38]
Chr16:11001595 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.848G>A (p.Arg283Gln) single nucleotide variant MHC class II deficiency [RCV002629090] Chr16:10903806 [GRCh38]
Chr16:10997663 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1113G>A (p.Glu371=) single nucleotide variant MHC class II deficiency [RCV003030317] Chr16:10906605 [GRCh38]
Chr16:11000462 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1448T>C (p.Val483Ala) single nucleotide variant MHC class II deficiency [RCV002895504] Chr16:10906940 [GRCh38]
Chr16:11000797 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1263A>G (p.Lys421=) single nucleotide variant MHC class II deficiency [RCV002898691] Chr16:10906755 [GRCh38]
Chr16:11000612 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.196T>G (p.Ser66Ala) single nucleotide variant MHC class II deficiency [RCV002649545] Chr16:10895425 [GRCh38]
Chr16:10989282 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.192C>T (p.Leu64=) single nucleotide variant MHC class II deficiency [RCV002856426] Chr16:10895421 [GRCh38]
Chr16:10989278 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2397G>A (p.Gly799=) single nucleotide variant MHC class II deficiency [RCV002856429] Chr16:10907889 [GRCh38]
Chr16:11001746 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3318-9C>T single nucleotide variant MHC class II deficiency [RCV003031059] Chr16:10923219 [GRCh38]
Chr16:11017076 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2546G>T (p.Gly849Val) single nucleotide variant MHC class II deficiency [RCV002770179] Chr16:10908038 [GRCh38]
Chr16:11001895 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.849G>T (p.Arg283=) single nucleotide variant MHC class II deficiency [RCV002811317] Chr16:10903807 [GRCh38]
Chr16:10997664 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2302C>T (p.Arg768Cys) single nucleotide variant MHC class II deficiency [RCV003086449] Chr16:10907794 [GRCh38]
Chr16:11001651 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2681C>T (p.Ala894Val) single nucleotide variant MHC class II deficiency [RCV002966423] Chr16:10909052 [GRCh38]
Chr16:11002909 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3078C>T (p.Asn1026=) single nucleotide variant MHC class II deficiency [RCV002602055] Chr16:10918455 [GRCh38]
Chr16:11012312 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.567G>T (p.Ala189=) single nucleotide variant MHC class II deficiency [RCV003044908] Chr16:10902123 [GRCh38]
Chr16:10995980 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.921C>T (p.Ser307=) single nucleotide variant MHC class II deficiency [RCV002599112] Chr16:10903879 [GRCh38]
Chr16:10997736 [GRCh37]
Chr16:16p13.13		 likely benign
NM_014015.4(DEXI):c.70C>G (p.Leu24Val) single nucleotide variant Inborn genetic diseases [RCV002673223] Chr16:10941936 [GRCh38]
Chr16:11035793 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1984_1992dup (p.Ala664_Trp665insLysLeuAla) duplication MHC class II deficiency [RCV002833947] Chr16:10907467..10907468 [GRCh38]
Chr16:11001324..11001325 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.482-5C>G single nucleotide variant MHC class II deficiency [RCV003044722] Chr16:10902033 [GRCh38]
Chr16:10995890 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2714C>A (p.Thr905Asn) single nucleotide variant MHC class II deficiency [RCV002833317] Chr16:10909085 [GRCh38]
Chr16:11002942 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2507T>C (p.Leu836Pro) single nucleotide variant MHC class II deficiency [RCV003030526] Chr16:10907999 [GRCh38]
Chr16:11001856 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1656C>T (p.Arg552=) single nucleotide variant MHC class II deficiency [RCV003048289] Chr16:10907148 [GRCh38]
Chr16:11001005 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2079C>G (p.Gly693=) single nucleotide variant MHC class II deficiency [RCV003089738] Chr16:10907571 [GRCh38]
Chr16:11001428 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2498T>G (p.Leu833Arg) single nucleotide variant Inborn genetic diseases [RCV002702641] Chr16:10907990 [GRCh38]
Chr16:11001847 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1292G>C (p.Gly431Ala) single nucleotide variant Inborn genetic diseases [RCV002896954] Chr16:10906784 [GRCh38]
Chr16:11000641 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2214A>G (p.Ala738=) single nucleotide variant MHC class II deficiency [RCV002646037] Chr16:10907706 [GRCh38]
Chr16:11001563 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.436+18T>G single nucleotide variant MHC class II deficiency [RCV002715594] Chr16:10899020 [GRCh38]
Chr16:10992877 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1518del (p.Gln507fs) deletion MHC class II deficiency [RCV003009364] Chr16:10907010 [GRCh38]
Chr16:11000867 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.985A>C (p.Asn329His) single nucleotide variant MHC class II deficiency [RCV002922138] Chr16:10904791 [GRCh38]
Chr16:10998648 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2614G>A (p.Gly872Arg) single nucleotide variant MHC class II deficiency [RCV002895506] Chr16:10908106 [GRCh38]
Chr16:11001963 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.685T>C (p.Phe229Leu) single nucleotide variant MHC class II deficiency [RCV002770769] Chr16:10902714 [GRCh38]
Chr16:10996571 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2581C>T (p.Leu861=) single nucleotide variant MHC class II deficiency [RCV002716690] Chr16:10908073 [GRCh38]
Chr16:11001930 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.171T>C (p.Ala57=) single nucleotide variant MHC class II deficiency [RCV002602500] Chr16:10895400 [GRCh38]
Chr16:10989257 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3330C>T (p.Pro1110=) single nucleotide variant MHC class II deficiency [RCV002646638] Chr16:10923240 [GRCh38]
Chr16:11017097 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2595C>T (p.Ser865=) single nucleotide variant MHC class II deficiency [RCV003010321] Chr16:10908087 [GRCh38]
Chr16:11001944 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2969+8T>C single nucleotide variant MHC class II deficiency [RCV002579976] Chr16:10915658 [GRCh38]
Chr16:11009515 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3040C>T (p.Leu1014=) single nucleotide variant MHC class II deficiency [RCV002833988] Chr16:10916437 [GRCh38]
Chr16:11010294 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1027C>T (p.Arg343Cys) single nucleotide variant MHC class II deficiency [RCV003090276] Chr16:10906519 [GRCh38]
Chr16:11000376 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.200-20C>G single nucleotide variant MHC class II deficiency [RCV002770316] Chr16:10895649 [GRCh38]
Chr16:10989506 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.750C>A (p.Val250=) single nucleotide variant MHC class II deficiency [RCV002856609] Chr16:10902779 [GRCh38]
Chr16:10996636 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2316C>G (p.Ala772=) single nucleotide variant MHC class II deficiency [RCV002833669] Chr16:10907808 [GRCh38]
Chr16:11001665 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2817-11G>A single nucleotide variant MHC class II deficiency [RCV003066639] Chr16:10910177 [GRCh38]
Chr16:11004034 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1532T>C (p.Leu511Pro) single nucleotide variant MHC class II deficiency [RCV003067258] Chr16:10907024 [GRCh38]
Chr16:11000881 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2103del (p.Ala702fs) deletion MHC class II deficiency [RCV003066139] Chr16:10907594 [GRCh38]
Chr16:11001451 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.3264G>A (p.Gly1088=) single nucleotide variant MHC class II deficiency [RCV002584633] Chr16:10922437 [GRCh38]
Chr16:11016294 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.718C>T (p.Leu240Phe) single nucleotide variant MHC class II deficiency [RCV003069761] Chr16:10902747 [GRCh38]
Chr16:10996604 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3170G>A (p.Cys1057Tyr) single nucleotide variant MHC class II deficiency [RCV003069767] Chr16:10922187 [GRCh38]
Chr16:11016044 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3233+9G>A single nucleotide variant MHC class II deficiency [RCV002942272] Chr16:10922259 [GRCh38]
Chr16:11016116 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2299G>A (p.Ala767Thr) single nucleotide variant MHC class II deficiency [RCV002654717] Chr16:10907791 [GRCh38]
Chr16:11001648 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1303C>T (p.Arg435Trp) single nucleotide variant MHC class II deficiency [RCV003069990] Chr16:10906795 [GRCh38]
Chr16:11000652 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2103C>G (p.Ala701=) single nucleotide variant MHC class II deficiency [RCV003050362] Chr16:10907595 [GRCh38]
Chr16:11001452 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.105G>A (p.Leu35=) single nucleotide variant MHC class II deficiency [RCV002605653] Chr16:10895334 [GRCh38]
Chr16:10989191 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1323G>C (p.Arg441=) single nucleotide variant MHC class II deficiency [RCV002721938] Chr16:10906815 [GRCh38]
Chr16:11000672 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2785G>A (p.Glu929Lys) single nucleotide variant MHC class II deficiency [RCV003051179] Chr16:10909156 [GRCh38]
Chr16:11003013 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1476C>G (p.Asp492Glu) single nucleotide variant MHC class II deficiency [RCV003093345] Chr16:10906968 [GRCh38]
Chr16:11000825 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1479C>T (p.Arg493=) single nucleotide variant MHC class II deficiency [RCV002584171] Chr16:10906971 [GRCh38]
Chr16:11000828 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2888C>T (p.Ala963Val) single nucleotide variant MHC class II deficiency [RCV003068996] Chr16:10910259 [GRCh38]
Chr16:11004116 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.628+7del deletion MHC class II deficiency [RCV002721558] Chr16:10902190 [GRCh38]
Chr16:10996047 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2328A>G (p.Pro776=) single nucleotide variant MHC class II deficiency [RCV002633541] Chr16:10907820 [GRCh38]
Chr16:11001677 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.23C>G (p.Pro8Arg) single nucleotide variant MHC class II deficiency [RCV002583091] Chr16:10877353 [GRCh38]
Chr16:10971210 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2943G>A (p.Thr981=) single nucleotide variant MHC class II deficiency [RCV003070347] Chr16:10915624 [GRCh38]
Chr16:11009481 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.185T>C (p.Ile62Thr) single nucleotide variant MHC class II deficiency [RCV002633545] Chr16:10895414 [GRCh38]
Chr16:10989271 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.719T>C (p.Leu240Pro) single nucleotide variant MHC class II deficiency [RCV003068569] Chr16:10902748 [GRCh38]
Chr16:10996605 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2274G>A (p.Leu758=) single nucleotide variant MHC class II deficiency [RCV003067790] Chr16:10907766 [GRCh38]
Chr16:11001623 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1373G>A (p.Arg458His) single nucleotide variant MHC class II deficiency [RCV003051116] Chr16:10906865 [GRCh38]
Chr16:11000722 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3063-18C>G single nucleotide variant MHC class II deficiency [RCV003069467] Chr16:10918422 [GRCh38]
Chr16:11012279 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.989A>G (p.Lys330Arg) single nucleotide variant MHC class II deficiency [RCV002653789] Chr16:10904795 [GRCh38]
Chr16:10998652 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1431C>T (p.Leu477=) single nucleotide variant MHC class II deficiency [RCV002606977] Chr16:10906923 [GRCh38]
Chr16:11000780 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.385G>A (p.Gly129Ser) single nucleotide variant MHC class II deficiency [RCV003073302] Chr16:10898951 [GRCh38]
Chr16:10992808 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3149+16del deletion MHC class II deficiency [RCV002587340] Chr16:10918541 [GRCh38]
Chr16:11012398 [GRCh37]
Chr16:16p13.13		 likely benign
NM_014015.4(DEXI):c.262G>C (p.Asp88His) single nucleotide variant Inborn genetic diseases [RCV002814008] Chr16:10941744 [GRCh38]
Chr16:11035601 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3196C>T (p.Arg1066Cys) single nucleotide variant MHC class II deficiency [RCV002606221] Chr16:10922213 [GRCh38]
Chr16:11016070 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.792C>T (p.Ser264=) single nucleotide variant MHC class II deficiency [RCV003032149] Chr16:10903750 [GRCh38]
Chr16:10997607 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.436+16C>A single nucleotide variant MHC class II deficiency [RCV003072389] Chr16:10899018 [GRCh38]
Chr16:10992875 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2437G>A (p.Ala813Thr) single nucleotide variant MHC class II deficiency [RCV003066368] Chr16:10907929 [GRCh38]
Chr16:11001786 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1432G>T (p.Val478Leu) single nucleotide variant MHC class II deficiency [RCV002726118] Chr16:10906924 [GRCh38]
Chr16:11000781 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3149+15G>A single nucleotide variant MHC class II deficiency [RCV002611402] Chr16:10918541 [GRCh38]
Chr16:11012398 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3223C>T (p.Arg1075Trp) single nucleotide variant MHC class II deficiency [RCV002589060] Chr16:10922240 [GRCh38]
Chr16:11016097 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.12G>C (p.Leu4=) single nucleotide variant MHC class II deficiency [RCV002944279] Chr16:10877342 [GRCh38]
Chr16:10971199 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.966G>A (p.Pro322=) single nucleotide variant MHC class II deficiency [RCV003093144] Chr16:10904772 [GRCh38]
Chr16:10998629 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3063-6C>A single nucleotide variant MHC class II deficiency [RCV003070050] Chr16:10918434 [GRCh38]
Chr16:11012291 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2215T>C (p.Leu739=) single nucleotide variant MHC class II deficiency [RCV003070188] Chr16:10907707 [GRCh38]
Chr16:11001564 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1951G>A (p.Asp651Asn) single nucleotide variant MHC class II deficiency [RCV003070191] Chr16:10907443 [GRCh38]
Chr16:11001300 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.275G>A (p.Arg92Lys) single nucleotide variant MHC class II deficiency [RCV002589919] Chr16:10895744 [GRCh38]
Chr16:10989601 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.3184G>A (p.Glu1062Lys) single nucleotide variant MHC class II deficiency [RCV003067445] Chr16:10922201 [GRCh38]
Chr16:11016058 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1649G>A (p.Arg550Gln) single nucleotide variant MHC class II deficiency [RCV002610523] Chr16:10907141 [GRCh38]
Chr16:11000998 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1190T>C (p.Leu397Pro) single nucleotide variant MHC class II deficiency [RCV002603137] Chr16:10906682 [GRCh38]
Chr16:11000539 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2201C>T (p.Pro734Leu) single nucleotide variant MHC class II deficiency [RCV002610591] Chr16:10907693 [GRCh38]
Chr16:11001550 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2537A>G (p.His846Arg) single nucleotide variant MHC class II deficiency [RCV003144986] Chr16:10908029 [GRCh38]
Chr16:11001886 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_014015.4(DEXI):c.100T>C (p.Phe34Leu) single nucleotide variant Inborn genetic diseases [RCV003184513] Chr16:10941906 [GRCh38]
Chr16:11035763 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2152G>C (p.Gly718Arg) single nucleotide variant Inborn genetic diseases [RCV003212804] Chr16:10907644 [GRCh38]
Chr16:11001501 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_014015.4(DEXI):c.208C>A (p.Leu70Ile) single nucleotide variant Inborn genetic diseases [RCV003209744] Chr16:10941798 [GRCh38]
Chr16:11035655 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.730T>A (p.Ser244Thr) single nucleotide variant Inborn genetic diseases [RCV003217589] Chr16:10902759 [GRCh38]
Chr16:10996616 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.673G>A (p.Gly225Arg) single nucleotide variant Rheumatoid arthritis [RCV003337965] Chr16:10902702 [GRCh38]
Chr16:10996559 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.67G>T (p.Ala23Ser) single nucleotide variant Inborn genetic diseases [RCV003341091] Chr16:10895296 [GRCh38]
Chr16:10989153 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_014015.4(DEXI):c.37C>G (p.Leu13Val) single nucleotide variant Inborn genetic diseases [RCV003348027] Chr16:10941969 [GRCh38]
Chr16:11035826 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.935C>G (p.Thr312Arg) single nucleotide variant Inborn genetic diseases [RCV003372354] Chr16:10903893 [GRCh38]
Chr16:10997750 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1776C>G (p.Asp592Glu) single nucleotide variant Inborn genetic diseases [RCV003385222] Chr16:10907268 [GRCh38]
Chr16:11001125 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2064G>A (p.Trp688Ter) single nucleotide variant MHC class II deficiency [RCV003524549] Chr16:10907556 [GRCh38]
Chr16:11001413 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.199+20dup duplication MHC class II deficiency [RCV003874027] Chr16:10895446..10895447 [GRCh38]
Chr16:10989303..10989304 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1812T>A (p.Leu604=) single nucleotide variant MHC class II deficiency [RCV003524712] Chr16:10907304 [GRCh38]
Chr16:11001161 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.773-15C>G single nucleotide variant MHC class II deficiency [RCV003874091] Chr16:10903716 [GRCh38]
Chr16:10997573 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1685C>A (p.Ala562Asp) single nucleotide variant MHC class II deficiency [RCV003875470] Chr16:10907177 [GRCh38]
Chr16:11001034 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2590C>T (p.Arg864Cys) single nucleotide variant CIITA-related condition [RCV003414527] Chr16:10908082 [GRCh38]
Chr16:11001939 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.484G>A (p.Glu162Lys) single nucleotide variant not provided [RCV003417644] Chr16:10902040 [GRCh38]
Chr16:10995897 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.295+13C>T single nucleotide variant MHC class II deficiency [RCV003524693] Chr16:10895777 [GRCh38]
Chr16:10989634 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3317+16C>G single nucleotide variant MHC class II deficiency [RCV003524851] Chr16:10922506 [GRCh38]
Chr16:11016363 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2698C>T (p.Gln900Ter) single nucleotide variant MHC class II deficiency [RCV003486310] Chr16:10909069 [GRCh38]
Chr16:11002926 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.2969+18G>T single nucleotide variant MHC class II deficiency [RCV003524889] Chr16:10915668 [GRCh38]
Chr16:11009525 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1110G>A (p.Leu370=) single nucleotide variant MHC class II deficiency [RCV003827548] Chr16:10906602 [GRCh38]
Chr16:11000459 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.513C>T (p.Leu171=) single nucleotide variant MHC class II deficiency [RCV003524543] Chr16:10902069 [GRCh38]
Chr16:10995926 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3117G>C (p.Leu1039=) single nucleotide variant MHC class II deficiency [RCV003524564] Chr16:10918494 [GRCh38]
Chr16:11012351 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2712G>A (p.Glu904=) single nucleotide variant MHC class II deficiency [RCV003524616] Chr16:10909083 [GRCh38]
Chr16:11002940 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3333C>T (p.Thr1111=) single nucleotide variant MHC class II deficiency [RCV003524629] Chr16:10923243 [GRCh38]
Chr16:11017100 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2163G>A (p.Trp721Ter) single nucleotide variant MHC class II deficiency [RCV003524785] Chr16:10907655 [GRCh38]
Chr16:11001512 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1007-18C>T single nucleotide variant MHC class II deficiency [RCV003525058] Chr16:10906481 [GRCh38]
Chr16:11000338 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.21C>G (p.Arg7=) single nucleotide variant MHC class II deficiency [RCV003525117] Chr16:10877351 [GRCh38]
Chr16:10971208 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.773-20A>G single nucleotide variant MHC class II deficiency [RCV003525132] Chr16:10903711 [GRCh38]
Chr16:10997568 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3149+20C>G single nucleotide variant MHC class II deficiency [RCV003525028] Chr16:10918546 [GRCh38]
Chr16:11012403 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2254G>C (p.Glu752Gln) single nucleotide variant MHC class II deficiency [RCV003879554] Chr16:10907746 [GRCh38]
Chr16:11001603 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1386C>T (p.Ala462=) single nucleotide variant MHC class II deficiency [RCV003876970] Chr16:10906878 [GRCh38]
Chr16:11000735 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.52+11C>T single nucleotide variant MHC class II deficiency [RCV003878966] Chr16:10877393 [GRCh38]
Chr16:10971250 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2889-13C>T single nucleotide variant MHC class II deficiency [RCV003525139] Chr16:10915557 [GRCh38]
Chr16:11009414 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1395G>C (p.Leu465=) single nucleotide variant MHC class II deficiency [RCV003524555] Chr16:10906887 [GRCh38]
Chr16:11000744 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2901C>T (p.Val967=) single nucleotide variant MHC class II deficiency [RCV003880370] Chr16:10915582 [GRCh38]
Chr16:11009439 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2961G>A (p.Gln987=) single nucleotide variant MHC class II deficiency [RCV003881172] Chr16:10915642 [GRCh38]
Chr16:11009499 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2484G>A (p.Glu828=) single nucleotide variant MHC class II deficiency [RCV003878016] Chr16:10907976 [GRCh38]
Chr16:11001833 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2517C>A (p.Arg839=) single nucleotide variant MHC class II deficiency [RCV003524847] Chr16:10908009 [GRCh38]
Chr16:11001866 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1230_1231delinsAT (p.Arg411Cys) indel MHC class II deficiency [RCV003524859] Chr16:10906722..10906723 [GRCh38]
Chr16:11000579..11000580 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2969+15_2969+18del deletion MHC class II deficiency [RCV003524860] Chr16:10915665..10915668 [GRCh38]
Chr16:11009522..11009525 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1006+11C>G single nucleotide variant MHC class II deficiency [RCV003881407] Chr16:10904823 [GRCh38]
Chr16:10998680 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.436+1G>C single nucleotide variant MHC class II deficiency [RCV003524161] Chr16:10899003 [GRCh38]
Chr16:10992860 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.2250G>A (p.Trp750Ter) single nucleotide variant MHC class II deficiency [RCV003524235] Chr16:10907742 [GRCh38]
Chr16:11001599 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.3318-4G>C single nucleotide variant MHC class II deficiency [RCV003524272] Chr16:10923224 [GRCh38]
Chr16:11017081 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.462C>T (p.Asp154=) single nucleotide variant MHC class II deficiency [RCV003523284] Chr16:10901539 [GRCh38]
Chr16:10995396 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3024A>G (p.Ser1008=) single nucleotide variant MHC class II deficiency [RCV003523339] Chr16:10916421 [GRCh38]
Chr16:11010278 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2694C>T (p.Ser898=) single nucleotide variant MHC class II deficiency [RCV003524458] Chr16:10909065 [GRCh38]
Chr16:11002922 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3150-19del deletion MHC class II deficiency [RCV003523461] Chr16:10922148 [GRCh38]
Chr16:11016005 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3150-14T>C single nucleotide variant MHC class II deficiency [RCV003852660] Chr16:10922153 [GRCh38]
Chr16:11016010 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1353C>G (p.Val451=) single nucleotide variant MHC class II deficiency [RCV003522268] Chr16:10906845 [GRCh38]
Chr16:11000702 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.629-19C>T single nucleotide variant MHC class II deficiency [RCV003522419] Chr16:10902639 [GRCh38]
Chr16:10996496 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1007-13C>G single nucleotide variant MHC class II deficiency [RCV003523649] Chr16:10906486 [GRCh38]
Chr16:11000343 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2970-18A>G single nucleotide variant MHC class II deficiency [RCV003522339] Chr16:10916349 [GRCh38]
Chr16:11010206 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2970-6C>A single nucleotide variant MHC class II deficiency [RCV003523660] Chr16:10916361 [GRCh38]
Chr16:11010218 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1674C>T (p.Ser558=) single nucleotide variant MHC class II deficiency [RCV003850808] Chr16:10907166 [GRCh38]
Chr16:11001023 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.393T>C (p.Ser131=) single nucleotide variant MHC class II deficiency [RCV003523719] Chr16:10898959 [GRCh38]
Chr16:10992816 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2816+12G>C single nucleotide variant MHC class II deficiency [RCV003522429] Chr16:10909199 [GRCh38]
Chr16:11003056 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1566del (p.Cys523fs) deletion MHC class II deficiency [RCV003523874] Chr16:10907056 [GRCh38]
Chr16:11000913 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.3177G>T (p.Val1059=) single nucleotide variant MHC class II deficiency [RCV003522687] Chr16:10922194 [GRCh38]
Chr16:11016051 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.938-18C>A single nucleotide variant MHC class II deficiency [RCV003523927] Chr16:10904726 [GRCh38]
Chr16:10998583 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.372A>G (p.Pro124=) single nucleotide variant MHC class II deficiency [RCV003523974] Chr16:10898938 [GRCh38]
Chr16:10992795 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2563del (p.Ala855fs) deletion MHC class II deficiency [RCV003524027] Chr16:10908054 [GRCh38]
Chr16:11001911 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.3150-16C>A single nucleotide variant MHC class II deficiency [RCV003524032] Chr16:10922151 [GRCh38]
Chr16:11016008 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2969+13T>A single nucleotide variant MHC class II deficiency [RCV003522891] Chr16:10915663 [GRCh38]
Chr16:11009520 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.773-14C>T single nucleotide variant MHC class II deficiency [RCV003635781] Chr16:10903717 [GRCh38]
Chr16:10997574 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.358+19G>A single nucleotide variant MHC class II deficiency [RCV003636328] Chr16:10898751 [GRCh38]
Chr16:10992608 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1299G>C (p.Val433=) single nucleotide variant MHC class II deficiency [RCV003637235] Chr16:10906791 [GRCh38]
Chr16:11000648 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.144C>T (p.Tyr48=) single nucleotide variant MHC class II deficiency [RCV003635897] Chr16:10895373 [GRCh38]
Chr16:10989230 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.52+11C>A single nucleotide variant MHC class II deficiency [RCV003636133] Chr16:10877393 [GRCh38]
Chr16:10971250 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.789C>T (p.Ala263=) single nucleotide variant MHC class II deficiency [RCV003637083] Chr16:10903747 [GRCh38]
Chr16:10997604 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2969+20C>G single nucleotide variant MHC class II deficiency [RCV003523288] Chr16:10915670 [GRCh38]
Chr16:11009527 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.482-14C>T single nucleotide variant MHC class II deficiency [RCV003523841] Chr16:10902024 [GRCh38]
Chr16:10995881 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.482-12A>G single nucleotide variant MHC class II deficiency [RCV003636414] Chr16:10902026 [GRCh38]
Chr16:10995883 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1689A>G (p.Leu563=) single nucleotide variant MHC class II deficiency [RCV003637096] Chr16:10907181 [GRCh38]
Chr16:11001038 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3234-15A>C single nucleotide variant MHC class II deficiency [RCV003523337] Chr16:10922392 [GRCh38]
Chr16:11016249 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1007-9C>G single nucleotide variant MHC class II deficiency [RCV003637119] Chr16:10906490 [GRCh38]
Chr16:11000347 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.295+8A>T single nucleotide variant MHC class II deficiency [RCV003637278] Chr16:10895772 [GRCh38]
Chr16:10989629 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1815C>G (p.Leu605=) single nucleotide variant MHC class II deficiency [RCV003524423] Chr16:10907307 [GRCh38]
Chr16:11001164 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2657+17G>C single nucleotide variant MHC class II deficiency [RCV003636472] Chr16:10908166 [GRCh38]
Chr16:11002023 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1650G>A (p.Arg550=) single nucleotide variant MHC class II deficiency [RCV003839779] Chr16:10907142 [GRCh38]
Chr16:11000999 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2889-20C>T single nucleotide variant MHC class II deficiency [RCV003636488] Chr16:10915550 [GRCh38]
Chr16:11009407 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3114C>T (p.Ala1038=) single nucleotide variant MHC class II deficiency [RCV003636782] Chr16:10918491 [GRCh38]
Chr16:11012348 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1899G>A (p.Leu633=) single nucleotide variant MHC class II deficiency [RCV003637286] Chr16:10907391 [GRCh38]
Chr16:11001248 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1012del (p.Val338fs) deletion MHC class II deficiency [RCV003637288] Chr16:10906503 [GRCh38]
Chr16:11000360 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.937+14G>C single nucleotide variant MHC class II deficiency [RCV003636498] Chr16:10903909 [GRCh38]
Chr16:10997766 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2816+18T>G single nucleotide variant MHC class II deficiency [RCV003636500] Chr16:10909205 [GRCh38]
Chr16:11003062 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3126C>A (p.Leu1042=) single nucleotide variant MHC class II deficiency [RCV003636796] Chr16:10918503 [GRCh38]
Chr16:11012360 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2130C>T (p.Ser710=) single nucleotide variant MHC class II deficiency [RCV003636800] Chr16:10907622 [GRCh38]
Chr16:11001479 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3233+20C>T single nucleotide variant MHC class II deficiency [RCV003636801] Chr16:10922270 [GRCh38]
Chr16:11016127 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.918C>T (p.Thr306=) single nucleotide variant MHC class II deficiency [RCV003522153] Chr16:10903876 [GRCh38]
Chr16:10997733 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.436+2T>C single nucleotide variant MHC class II deficiency [RCV003522731] Chr16:10899004 [GRCh38]
Chr16:10992861 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.773-8del deletion MHC class II deficiency [RCV003523975] Chr16:10903719 [GRCh38]
Chr16:10997576 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.2556G>A (p.Leu852=) single nucleotide variant MHC class II deficiency [RCV003636823] Chr16:10908048 [GRCh38]
Chr16:11001905 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3149+14del deletion MHC class II deficiency [RCV003523478] Chr16:10918537 [GRCh38]
Chr16:11012394 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.2817-12T>C single nucleotide variant MHC class II deficiency [RCV003811396] Chr16:10910176 [GRCh38]
Chr16:11004033 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1933C>T (p.Leu645=) single nucleotide variant MHC class II deficiency [RCV003637310] Chr16:10907425 [GRCh38]
Chr16:11001282 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3317+18T>C single nucleotide variant MHC class II deficiency [RCV003637311] Chr16:10922508 [GRCh38]
Chr16:11016365 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2283G>A (p.Leu761=) single nucleotide variant MHC class II deficiency [RCV003522796] Chr16:10907775 [GRCh38]
Chr16:11001632 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2346G>A (p.Val782=) single nucleotide variant MHC class II deficiency [RCV003636588] Chr16:10907838 [GRCh38]
Chr16:11001695 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.628+14del deletion MHC class II deficiency [RCV003636595] Chr16:10902198 [GRCh38]
Chr16:10996055 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3149+16G>T single nucleotide variant MHC class II deficiency [RCV003637325] Chr16:10918542 [GRCh38]
Chr16:11012399 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1668C>T (p.Ser556=) single nucleotide variant MHC class II deficiency [RCV003636066] Chr16:10907160 [GRCh38]
Chr16:11001017 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.482-14C>A single nucleotide variant MHC class II deficiency [RCV003636634] Chr16:10902024 [GRCh38]
Chr16:10995881 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.213C>T (p.Asp71=) single nucleotide variant MHC class II deficiency [RCV003636890] Chr16:10895682 [GRCh38]
Chr16:10989539 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.482-1G>C single nucleotide variant MHC class II deficiency [RCV003524086] Chr16:10902037 [GRCh38]
Chr16:10995894 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.482-18_482-17del microsatellite MHC class II deficiency [RCV003851089] Chr16:10902017..10902018 [GRCh38]
Chr16:10995874..10995875 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.938-15C>T single nucleotide variant MHC class II deficiency [RCV003635860] Chr16:10904729 [GRCh38]
Chr16:10998586 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3317+16C>T single nucleotide variant MHC class II deficiency [RCV003636660] Chr16:10922506 [GRCh38]
Chr16:11016363 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.773-10C>T single nucleotide variant MHC class II deficiency [RCV003636661] Chr16:10903721 [GRCh38]
Chr16:10997578 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.819T>C (p.Thr273=) single nucleotide variant MHC class II deficiency [RCV003636909] Chr16:10903777 [GRCh38]
Chr16:10997634 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.628+19A>T single nucleotide variant MHC class II deficiency [RCV003637183] Chr16:10902203 [GRCh38]
Chr16:10996060 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2292G>A (p.Gln764=) single nucleotide variant MHC class II deficiency [RCV003637337] Chr16:10907784 [GRCh38]
Chr16:11001641 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.53-9C>T single nucleotide variant MHC class II deficiency [RCV003635456] Chr16:10895273 [GRCh38]
Chr16:10989130 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2577C>T (p.Phe859=) single nucleotide variant MHC class II deficiency [RCV003635470] Chr16:10908069 [GRCh38]
Chr16:11001926 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3348C>G (p.Val1116=) single nucleotide variant MHC class II deficiency [RCV003522910] Chr16:10923258 [GRCh38]
Chr16:11017115 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.53-11T>C single nucleotide variant MHC class II deficiency [RCV003636934] Chr16:10895271 [GRCh38]
Chr16:10989128 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.720C>A (p.Leu240=) single nucleotide variant MHC class II deficiency [RCV003637353] Chr16:10902749 [GRCh38]
Chr16:10996606 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.937+8C>A single nucleotide variant MHC class II deficiency [RCV003637354] Chr16:10903903 [GRCh38]
Chr16:10997760 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1065C>T (p.Gly355=) single nucleotide variant MHC class II deficiency [RCV003636958] Chr16:10906557 [GRCh38]
Chr16:11000414 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.359-7A>G single nucleotide variant MHC class II deficiency [RCV003636964] Chr16:10898918 [GRCh38]
Chr16:10992775 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1299G>A (p.Val433=) single nucleotide variant MHC class II deficiency [RCV003522409] Chr16:10906791 [GRCh38]
Chr16:11000648 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.937+9C>T single nucleotide variant MHC class II deficiency [RCV003524193] Chr16:10903904 [GRCh38]
Chr16:10997761 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1152C>G (p.Thr384=) single nucleotide variant MHC class II deficiency [RCV003637214] Chr16:10906644 [GRCh38]
Chr16:11000501 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2982G>A (p.Leu994=) single nucleotide variant MHC class II deficiency [RCV003637366] Chr16:10916379 [GRCh38]
Chr16:11010236 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3288T>G (p.Leu1096=) single nucleotide variant MHC class II deficiency [RCV003836260] Chr16:10922461 [GRCh38]
Chr16:11016318 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3387G>T (p.Leu1129=) single nucleotide variant MHC class II deficiency [RCV003523698] Chr16:10923297 [GRCh38]
Chr16:11017154 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2829C>T (p.Ser943=) single nucleotide variant MHC class II deficiency [RCV003636297] Chr16:10910200 [GRCh38]
Chr16:11004057 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1230G>C (p.Pro410=) single nucleotide variant MHC class II deficiency [RCV003637011] Chr16:10906722 [GRCh38]
Chr16:11000579 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3105C>A (p.Leu1035=) single nucleotide variant MHC class II deficiency [RCV003635788] Chr16:10918482 [GRCh38]
Chr16:11012339 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2253G>A (p.Leu751=) single nucleotide variant MHC class II deficiency [RCV003524420] Chr16:10907745 [GRCh38]
Chr16:11001602 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3062+20C>T single nucleotide variant MHC class II deficiency [RCV003636844] Chr16:10916479 [GRCh38]
Chr16:11010336 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3063-10G>T single nucleotide variant MHC class II deficiency [RCV003637072] Chr16:10918430 [GRCh38]
Chr16:11012287 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.358+18G>A single nucleotide variant MHC class II deficiency [RCV003636599] Chr16:10898750 [GRCh38]
Chr16:10992607 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1272G>A (p.Gln424=) single nucleotide variant MHC class II deficiency [RCV003856162] Chr16:10906764 [GRCh38]
Chr16:11000621 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2816+19G>T single nucleotide variant MHC class II deficiency [RCV003636612] Chr16:10909206 [GRCh38]
Chr16:11003063 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3098_3116del (p.Tyr1033fs) deletion MHC class II deficiency [RCV003636970] Chr16:10918472..10918490 [GRCh38]
Chr16:11012329..11012347 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.645C>G (p.Ser215=) single nucleotide variant MHC class II deficiency [RCV003636977] Chr16:10902674 [GRCh38]
Chr16:10996531 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.981C>T (p.Val327=) single nucleotide variant MHC class II deficiency [RCV003637079] Chr16:10904787 [GRCh38]
Chr16:10998644 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2816+14C>A single nucleotide variant MHC class II deficiency [RCV003635884] Chr16:10909201 [GRCh38]
Chr16:11003058 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2229G>A (p.Lys743=) single nucleotide variant MHC class II deficiency [RCV003636877] Chr16:10907721 [GRCh38]
Chr16:11001578 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3111G>A (p.Glu1037=) single nucleotide variant MHC class II deficiency [RCV003636633] Chr16:10918488 [GRCh38]
Chr16:11012345 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1518G>C (p.Ala506=) single nucleotide variant MHC class II deficiency [RCV003637001] Chr16:10907010 [GRCh38]
Chr16:11000867 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2657+13G>A single nucleotide variant MHC class II deficiency [RCV003637003] Chr16:10908162 [GRCh38]
Chr16:11002019 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.938-9C>T single nucleotide variant MHC class II deficiency [RCV003637113] Chr16:10904735 [GRCh38]
Chr16:10998592 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1920_1921insGA (p.Tyr641fs) insertion MHC class II deficiency [RCV003636914] Chr16:10907412..10907413 [GRCh38]
Chr16:11001269..11001270 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.717G>T (p.Gly239=) single nucleotide variant MHC class II deficiency [RCV003637015] Chr16:10902746 [GRCh38]
Chr16:10996603 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2657+17G>T single nucleotide variant MHC class II deficiency [RCV003854777] Chr16:10908166 [GRCh38]
Chr16:11002023 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1356C>A (p.Pro452=) single nucleotide variant MHC class II deficiency [RCV003635416] Chr16:10906848 [GRCh38]
Chr16:11000705 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1251T>C (p.Ala417=) single nucleotide variant MHC class II deficiency [RCV003636046] Chr16:10906743 [GRCh38]
Chr16:11000600 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.437-15A>G single nucleotide variant MHC class II deficiency [RCV003635817] Chr16:10901499 [GRCh38]
Chr16:10995356 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1007-10G>T single nucleotide variant MHC class II deficiency [RCV003636135] Chr16:10906489 [GRCh38]
Chr16:11000346 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.296-16T>G single nucleotide variant MHC class II deficiency [RCV003636184] Chr16:10898654 [GRCh38]
Chr16:10992511 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.993T>C (p.Leu331=) single nucleotide variant MHC class II deficiency [RCV003636703] Chr16:10904799 [GRCh38]
Chr16:10998656 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2418G>C (p.Leu806=) single nucleotide variant MHC class II deficiency [RCV003636051] Chr16:10907910 [GRCh38]
Chr16:11001767 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2878C>T (p.Leu960=) single nucleotide variant MHC class II deficiency [RCV003635559] Chr16:10910249 [GRCh38]
Chr16:11004106 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.358+20G>A single nucleotide variant MHC class II deficiency [RCV003839429] Chr16:10898752 [GRCh38]
Chr16:10992609 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2969+12C>T single nucleotide variant MHC class II deficiency [RCV003636082] Chr16:10915662 [GRCh38]
Chr16:11009519 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.744A>G (p.Thr248=) single nucleotide variant MHC class II deficiency [RCV003636074] Chr16:10902773 [GRCh38]
Chr16:10996630 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1911C>G (p.Leu637=) single nucleotide variant MHC class II deficiency [RCV003636043] Chr16:10907403 [GRCh38]
Chr16:11001260 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2406_2437del (p.Ala803fs) deletion MHC class II deficiency [RCV003635584] Chr16:10907891..10907922 [GRCh38]
Chr16:11001748..11001779 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.3063-19C>G single nucleotide variant MHC class II deficiency [RCV003636210] Chr16:10918421 [GRCh38]
Chr16:11012278 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3149+7G>C single nucleotide variant MHC class II deficiency [RCV003636215] Chr16:10918533 [GRCh38]
Chr16:11012390 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3060C>T (p.Leu1020=) single nucleotide variant MHC class II deficiency [RCV003636143] Chr16:10916457 [GRCh38]
Chr16:11010314 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.463C>T (p.Leu155=) single nucleotide variant MHC class II deficiency [RCV003817527] Chr16:10901540 [GRCh38]
Chr16:10995397 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1902C>T (p.Pro634=) single nucleotide variant MHC class II deficiency [RCV003835607] Chr16:10907394 [GRCh38]
Chr16:11001251 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2888+13G>C single nucleotide variant MHC class II deficiency [RCV003635608] Chr16:10910272 [GRCh38]
Chr16:11004129 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1293G>A (p.Gly431=) single nucleotide variant MHC class II deficiency [RCV003635613] Chr16:10906785 [GRCh38]
Chr16:11000642 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3062+19C>T single nucleotide variant MHC class II deficiency [RCV003635615] Chr16:10916478 [GRCh38]
Chr16:11010335 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2203C>T (p.Gln735Ter) single nucleotide variant MHC class II deficiency [RCV003635626] Chr16:10907695 [GRCh38]
Chr16:11001552 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1089G>A (p.Val363=) single nucleotide variant MHC class II deficiency [RCV003636252] Chr16:10906581 [GRCh38]
Chr16:11000438 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.753C>T (p.Ser251=) single nucleotide variant MHC class II deficiency [RCV003636743] Chr16:10902782 [GRCh38]
Chr16:10996639 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.937+14G>A single nucleotide variant MHC class II deficiency [RCV003636744] Chr16:10903909 [GRCh38]
Chr16:10997766 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3129T>C (p.Ala1043=) single nucleotide variant MHC class II deficiency [RCV003636334] Chr16:10918506 [GRCh38]
Chr16:11012363 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2657+14C>T single nucleotide variant MHC class II deficiency [RCV003636340] Chr16:10908163 [GRCh38]
Chr16:11002020 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1914G>A (p.Thr638=) single nucleotide variant MHC class II deficiency [RCV003635641] Chr16:10907406 [GRCh38]
Chr16:11001263 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2331G>C (p.Ser777=) single nucleotide variant MHC class II deficiency [RCV003636310] Chr16:10907823 [GRCh38]
Chr16:11001680 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1308C>T (p.Ala436=) single nucleotide variant MHC class II deficiency [RCV003636491] Chr16:10906800 [GRCh38]
Chr16:11000657 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1158C>T (p.Asp386=) single nucleotide variant MHC class II deficiency [RCV003636423] Chr16:10906650 [GRCh38]
Chr16:11000507 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2136C>A (p.Leu712=) single nucleotide variant MHC class II deficiency [RCV003636425] Chr16:10907628 [GRCh38]
Chr16:11001485 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2334G>C (p.Ala778=) single nucleotide variant MHC class II deficiency [RCV003636434] Chr16:10907826 [GRCh38]
Chr16:11001683 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1617A>T (p.Arg539=) single nucleotide variant MHC class II deficiency [RCV003635664] Chr16:10907109 [GRCh38]
Chr16:11000966 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.84G>T (p.Gly28=) single nucleotide variant MHC class II deficiency [RCV003635667] Chr16:10895313 [GRCh38]
Chr16:10989170 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1908G>T (p.Thr636=) single nucleotide variant MHC class II deficiency [RCV003524097] Chr16:10907400 [GRCh38]
Chr16:11001257 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1686C>A (p.Ala562=) single nucleotide variant MHC class II deficiency [RCV003636480] Chr16:10907178 [GRCh38]
Chr16:11001035 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.295+14T>C single nucleotide variant MHC class II deficiency [RCV003837245] Chr16:10895778 [GRCh38]
Chr16:10989635 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2199C>T (p.Leu733=) single nucleotide variant MHC class II deficiency [RCV003636393] Chr16:10907691 [GRCh38]
Chr16:11001548 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.773-12C>T single nucleotide variant MHC class II deficiency [RCV003524198] Chr16:10903719 [GRCh38]
Chr16:10997576 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3318-7del deletion MHC class II deficiency [RCV003635719] Chr16:10923216 [GRCh38]
Chr16:11017073 [GRCh37]
Chr16:16p13.13		 benign
NM_000246.4(CIITA):c.1006+19C>T single nucleotide variant MHC class II deficiency [RCV003636936] Chr16:10904831 [GRCh38]
Chr16:10998688 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.200-8C>G single nucleotide variant MHC class II deficiency [RCV003637038] Chr16:10895661 [GRCh38]
Chr16:10989518 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2436C>A (p.Cys812Ter) single nucleotide variant MHC class II deficiency [RCV003636832] Chr16:10907928 [GRCh38]
Chr16:11001785 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1611G>A (p.Leu537=) single nucleotide variant MHC class II deficiency [RCV003855057] Chr16:10907103 [GRCh38]
Chr16:11000960 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2547C>A (p.Gly849=) single nucleotide variant MHC class II deficiency [RCV003635528] Chr16:10908039 [GRCh38]
Chr16:11001896 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.199+10C>T single nucleotide variant MHC class II deficiency [RCV003635532] Chr16:10895438 [GRCh38]
Chr16:10989295 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2816+17A>T single nucleotide variant MHC class II deficiency [RCV003635624] Chr16:10909204 [GRCh38]
Chr16:11003061 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1054_1058del (p.Glu352fs) deletion MHC class II deficiency [RCV003523739] Chr16:10906543..10906547 [GRCh38]
Chr16:11000400..11000404 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2816+10G>A single nucleotide variant MHC class II deficiency [RCV003837032] Chr16:10909197 [GRCh38]
Chr16:11003054 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1053C>A (p.Ala351=) single nucleotide variant MHC class II deficiency [RCV003524446] Chr16:10906545 [GRCh38]
Chr16:11000402 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2591_2595del (p.Arg864fs) deletion MHC class II deficiency [RCV003524454] Chr16:10908082..10908086 [GRCh38]
Chr16:11001939..11001943 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.855C>A (p.Gly285=) single nucleotide variant MHC class II deficiency [RCV003522695] Chr16:10903813 [GRCh38]
Chr16:10997670 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2296C>T (p.Pro766Ser) single nucleotide variant MHC class II deficiency [RCV003851052] Chr16:10907788 [GRCh38]
Chr16:11001645 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.2958G>A (p.Leu986=) single nucleotide variant MHC class II deficiency [RCV003523895] Chr16:10915639 [GRCh38]
Chr16:11009496 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3233+20C>G single nucleotide variant MHC class II deficiency [RCV003635612] Chr16:10922270 [GRCh38]
Chr16:11016127 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2652T>C (p.Arg884=) single nucleotide variant MHC class II deficiency [RCV003523561] Chr16:10908144 [GRCh38]
Chr16:11002001 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1960C>G (p.Pro654Ala) single nucleotide variant MHC class II deficiency [RCV003635757] Chr16:10907452 [GRCh38]
Chr16:11001309 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.773-17C>G single nucleotide variant MHC class II deficiency [RCV003838335] Chr16:10903714 [GRCh38]
Chr16:10997571 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.629-14T>C single nucleotide variant MHC class II deficiency [RCV003635771] Chr16:10902644 [GRCh38]
Chr16:10996501 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1847del (p.Ala616fs) deletion MHC class II deficiency [RCV003523695] Chr16:10907339 [GRCh38]
Chr16:11001196 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.1510C>T (p.Leu504=) single nucleotide variant MHC class II deficiency [RCV003523269] Chr16:10907002 [GRCh38]
Chr16:11000859 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1006+8A>G single nucleotide variant MHC class II deficiency [RCV003524346] Chr16:10904820 [GRCh38]
Chr16:10998677 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2361G>A (p.Lys787=) single nucleotide variant MHC class II deficiency [RCV003522632] Chr16:10907853 [GRCh38]
Chr16:11001710 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2970-14G>A single nucleotide variant MHC class II deficiency [RCV003523954] Chr16:10916353 [GRCh38]
Chr16:11010210 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.950C>T (p.Ser317Phe) single nucleotide variant MHC class II deficiency [RCV003523515] Chr16:10904756 [GRCh38]
Chr16:10998613 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.1578G>C (p.Arg526=) single nucleotide variant MHC class II deficiency [RCV003635482] Chr16:10907070 [GRCh38]
Chr16:11000927 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2969+14C>T single nucleotide variant MHC class II deficiency [RCV003635642] Chr16:10915664 [GRCh38]
Chr16:11009521 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3297T>C (p.Cys1099=) single nucleotide variant MHC class II deficiency [RCV003635652] Chr16:10922470 [GRCh38]
Chr16:11016327 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1659G>T (p.Leu553=) single nucleotide variant MHC class II deficiency [RCV003524022] Chr16:10907151 [GRCh38]
Chr16:11001008 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.53-18C>G single nucleotide variant MHC class II deficiency [RCV003522245] Chr16:10895264 [GRCh38]
Chr16:10989121 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.108G>A (p.Glu36=) single nucleotide variant MHC class II deficiency [RCV003635500] Chr16:10895337 [GRCh38]
Chr16:10989194 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2271T>C (p.Phe757=) single nucleotide variant MHC class II deficiency [RCV003635508] Chr16:10907763 [GRCh38]
Chr16:11001620 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3149+15G>T single nucleotide variant MHC class II deficiency [RCV003523479] Chr16:10918541 [GRCh38]
Chr16:11012398 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.938-19C>T single nucleotide variant MHC class II deficiency [RCV003523648] Chr16:10904725 [GRCh38]
Chr16:10998582 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2817-15G>T single nucleotide variant MHC class II deficiency [RCV003637533] Chr16:10910173 [GRCh38]
Chr16:11004030 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.199+20G>C single nucleotide variant MHC class II deficiency [RCV003637868] Chr16:10895448 [GRCh38]
Chr16:10989305 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.295+12C>A single nucleotide variant MHC class II deficiency [RCV003637598] Chr16:10895776 [GRCh38]
Chr16:10989633 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1329C>T (p.Pro443=) single nucleotide variant MHC class II deficiency [RCV003637643] Chr16:10906821 [GRCh38]
Chr16:11000678 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.417G>T (p.Gly139=) single nucleotide variant MHC class II deficiency [RCV003637954] Chr16:10898983 [GRCh38]
Chr16:10992840 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3279T>C (p.Ala1093=) single nucleotide variant MHC class II deficiency [RCV003638007] Chr16:10922452 [GRCh38]
Chr16:11016309 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.295+13C>G single nucleotide variant MHC class II deficiency [RCV003638021] Chr16:10895777 [GRCh38]
Chr16:10989634 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.772+13C>A single nucleotide variant MHC class II deficiency [RCV003821254] Chr16:10902814 [GRCh38]
Chr16:10996671 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1080A>G (p.Leu360=) single nucleotide variant MHC class II deficiency [RCV003846538] Chr16:10906572 [GRCh38]
Chr16:11000429 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1006+9T>G single nucleotide variant MHC class II deficiency [RCV003637774] Chr16:10904821 [GRCh38]
Chr16:10998678 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1104C>T (p.Ala368=) single nucleotide variant MHC class II deficiency [RCV003638091] Chr16:10906596 [GRCh38]
Chr16:11000453 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2295T>A (p.Pro765=) single nucleotide variant MHC class II deficiency [RCV003637786] Chr16:10907787 [GRCh38]
Chr16:11001644 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2657+20G>A single nucleotide variant MHC class II deficiency [RCV003637505] Chr16:10908169 [GRCh38]
Chr16:11002026 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1188C>T (p.Gly396=) single nucleotide variant MHC class II deficiency [RCV003846745] Chr16:10906680 [GRCh38]
Chr16:11000537 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3135C>A (p.Ser1045=) single nucleotide variant MHC class II deficiency [RCV003637836] Chr16:10918512 [GRCh38]
Chr16:11012369 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.321G>A (p.Gln107=) single nucleotide variant MHC class II deficiency [RCV003863191] Chr16:10898695 [GRCh38]
Chr16:10992552 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2970-7C>A single nucleotide variant MHC class II deficiency [RCV003865163] Chr16:10916360 [GRCh38]
Chr16:11010217 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2109G>A (p.Glu703=) single nucleotide variant MHC class II deficiency [RCV003844377] Chr16:10907601 [GRCh38]
Chr16:11001458 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2016A>G (p.Gln672=) single nucleotide variant MHC class II deficiency [RCV003637805] Chr16:10907508 [GRCh38]
Chr16:11001365 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.436+14T>C single nucleotide variant MHC class II deficiency [RCV003840927] Chr16:10899016 [GRCh38]
Chr16:10992873 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.295+10C>T single nucleotide variant MHC class II deficiency [RCV003862505] Chr16:10895774 [GRCh38]
Chr16:10989631 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2816+17A>G single nucleotide variant MHC class II deficiency [RCV003637851] Chr16:10909204 [GRCh38]
Chr16:11003061 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.666C>T (p.Leu222=) single nucleotide variant MHC class II deficiency [RCV003637947] Chr16:10902695 [GRCh38]
Chr16:10996552 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2439C>G (p.Ala813=) single nucleotide variant MHC class II deficiency [RCV003864484] Chr16:10907931 [GRCh38]
Chr16:11001788 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.481+7A>C single nucleotide variant MHC class II deficiency [RCV003858669] Chr16:10901565 [GRCh38]
Chr16:10995422 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.436+17C>T single nucleotide variant MHC class II deficiency [RCV003844464] Chr16:10899019 [GRCh38]
Chr16:10992876 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2916T>C (p.Ala972=) single nucleotide variant MHC class II deficiency [RCV003637639] Chr16:10915597 [GRCh38]
Chr16:11009454 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.483T>C (p.Ala161=) single nucleotide variant MHC class II deficiency [RCV003863589] Chr16:10902039 [GRCh38]
Chr16:10995896 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1932G>A (p.Leu644=) single nucleotide variant MHC class II deficiency [RCV003861143] Chr16:10907424 [GRCh38]
Chr16:11001281 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2127C>T (p.Pro709=) single nucleotide variant MHC class II deficiency [RCV003637875] Chr16:10907619 [GRCh38]
Chr16:11001476 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.200-20C>T single nucleotide variant MHC class II deficiency [RCV003844761] Chr16:10895649 [GRCh38]
Chr16:10989506 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3234-16G>A single nucleotide variant MHC class II deficiency [RCV003870719] Chr16:10922391 [GRCh38]
Chr16:11016248 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3062+18G>A single nucleotide variant MHC class II deficiency [RCV003872541] Chr16:10916477 [GRCh38]
Chr16:11010334 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.252C>T (p.Asp84=) single nucleotide variant MHC class II deficiency [RCV003637679] Chr16:10895721 [GRCh38]
Chr16:10989578 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2538T>C (p.His846=) single nucleotide variant MHC class II deficiency [RCV003637997] Chr16:10908030 [GRCh38]
Chr16:11001887 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2697G>A (p.Leu899=) single nucleotide variant MHC class II deficiency [RCV003638110] Chr16:10909068 [GRCh38]
Chr16:11002925 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2567del (p.Gly856fs) deletion MHC class II deficiency [RCV003637821] Chr16:10908057 [GRCh38]
Chr16:11001914 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.606G>C (p.Leu202=) single nucleotide variant MHC class II deficiency [RCV003871973] Chr16:10902162 [GRCh38]
Chr16:10996019 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.53-16T>C single nucleotide variant MHC class II deficiency [RCV003857788] Chr16:10895266 [GRCh38]
Chr16:10989123 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2863C>A (p.Arg955=) single nucleotide variant MHC class II deficiency [RCV003823985] Chr16:10910234 [GRCh38]
Chr16:11004091 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2377C>T (p.Leu793=) single nucleotide variant MHC class II deficiency [RCV003871139] Chr16:10907869 [GRCh38]
Chr16:11001726 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2931G>A (p.Val977=) single nucleotide variant MHC class II deficiency [RCV003637439] Chr16:10915612 [GRCh38]
Chr16:11009469 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.69C>T (p.Ala23=) single nucleotide variant MHC class II deficiency [RCV003865392] Chr16:10895298 [GRCh38]
Chr16:10989155 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2888+20G>A single nucleotide variant MHC class II deficiency [RCV003637620] Chr16:10910279 [GRCh38]
Chr16:11004136 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.200-1G>C single nucleotide variant MHC class II deficiency [RCV003637621] Chr16:10895668 [GRCh38]
Chr16:10989525 [GRCh37]
Chr16:16p13.13		 likely pathogenic
NM_000246.4(CIITA):c.3062+16C>T single nucleotide variant MHC class II deficiency [RCV003637671] Chr16:10916475 [GRCh38]
Chr16:11010332 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3126C>T (p.Leu1042=) single nucleotide variant MHC class II deficiency [RCV003863909] Chr16:10918503 [GRCh38]
Chr16:11012360 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.295+17G>T single nucleotide variant MHC class II deficiency [RCV003870492] Chr16:10895781 [GRCh38]
Chr16:10989638 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.285T>C (p.Tyr95=) single nucleotide variant MHC class II deficiency [RCV003638006] Chr16:10895754 [GRCh38]
Chr16:10989611 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.954C>T (p.Pro318=) single nucleotide variant MHC class II deficiency [RCV003638030] Chr16:10904760 [GRCh38]
Chr16:10998617 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.342G>C (p.Leu114=) single nucleotide variant MHC class II deficiency [RCV003638056] Chr16:10898716 [GRCh38]
Chr16:10992573 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2565G>C (p.Ala855=) single nucleotide variant MHC class II deficiency [RCV003859079] Chr16:10908057 [GRCh38]
Chr16:11001914 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.772+18C>T single nucleotide variant MHC class II deficiency [RCV003865728] Chr16:10902819 [GRCh38]
Chr16:10996676 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2697G>C (p.Leu899=) single nucleotide variant MHC class II deficiency [RCV003845821] Chr16:10909068 [GRCh38]
Chr16:11002925 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3318-7C>G single nucleotide variant MHC class II deficiency [RCV003862241] Chr16:10923221 [GRCh38]
Chr16:11017078 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2035C>A (p.Gln679Lys) single nucleotide variant MHC class II deficiency [RCV003637424] Chr16:10907527 [GRCh38]
Chr16:11001384 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.773-17C>T single nucleotide variant MHC class II deficiency [RCV003637477] Chr16:10903714 [GRCh38]
Chr16:10997571 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.570G>C (p.Leu190=) single nucleotide variant MHC class II deficiency [RCV003637441] Chr16:10902126 [GRCh38]
Chr16:10995983 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2888+16G>C single nucleotide variant MHC class II deficiency [RCV003843076] Chr16:10910275 [GRCh38]
Chr16:11004132 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2888+13G>T single nucleotide variant MHC class II deficiency [RCV003637599] Chr16:10910272 [GRCh38]
Chr16:11004129 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1590C>G (p.Ala530=) single nucleotide variant MHC class II deficiency [RCV003637644] Chr16:10907082 [GRCh38]
Chr16:11000939 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.482-12A>T single nucleotide variant MHC class II deficiency [RCV003637607] Chr16:10902026 [GRCh38]
Chr16:10995883 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1609C>T (p.Leu537=) single nucleotide variant MHC class II deficiency [RCV003637745] Chr16:10907101 [GRCh38]
Chr16:11000958 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2444del (p.Glu815fs) deletion MHC class II deficiency [RCV003822496] Chr16:10907936 [GRCh38]
Chr16:11001793 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.482-15C>G single nucleotide variant MHC class II deficiency [RCV003637742] Chr16:10902023 [GRCh38]
Chr16:10995880 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3234-14G>A single nucleotide variant MHC class II deficiency [RCV003637808] Chr16:10922393 [GRCh38]
Chr16:11016250 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2682G>T (p.Ala894=) single nucleotide variant MHC class II deficiency [RCV003637814] Chr16:10909053 [GRCh38]
Chr16:11002910 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.3062+13G>A single nucleotide variant MHC class II deficiency [RCV003819623] Chr16:10916472 [GRCh38]
Chr16:11010329 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.628+13G>A single nucleotide variant MHC class II deficiency [RCV003843505] Chr16:10902197 [GRCh38]
Chr16:10996054 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.648G>C (p.Ser216=) single nucleotide variant MHC class II deficiency [RCV003637918] Chr16:10902677 [GRCh38]
Chr16:10996534 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1399del (p.Asp467fs) deletion MHC class II deficiency [RCV003637975] Chr16:10906890 [GRCh38]
Chr16:11000747 [GRCh37]
Chr16:16p13.13		 pathogenic
NM_000246.4(CIITA):c.2106A>T (p.Ala702=) single nucleotide variant MHC class II deficiency [RCV003638078] Chr16:10907598 [GRCh38]
Chr16:11001455 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.282T>C (p.Ala94=) single nucleotide variant MHC class II deficiency [RCV003638009] Chr16:10895751 [GRCh38]
Chr16:10989608 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.1962C>A (p.Pro654=) single nucleotide variant MHC class II deficiency [RCV003861515] Chr16:10907454 [GRCh38]
Chr16:11001311 [GRCh37]
Chr16:16p13.13		 likely benign
NM_000246.4(CIITA):c.2629G>C (p.Val877Leu) single nucleotide variant CIITA-related condition [RCV003983438] Chr16:10908121 [GRCh38]
Chr16:11001978 [GRCh37]
Chr16:16p13.13		 uncertain significance
NM_000246.4(CIITA):c.97G>A (p.Gly33Ser) single nucleotide variant CIITA-related condition [RCV003969812] Chr16:10895326 [GRCh38]
Chr16:10989183 [GRCh37]
Chr16:16p13.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5361
Count of miRNA genes:1352
Interacting mature miRNAs:1780
Transcripts:ENST00000324288, ENST00000381835, ENST00000537380, ENST00000570546, ENST00000571186, ENST00000571190, ENST00000571545, ENST00000572665, ENST00000573309, ENST00000575513, ENST00000576601
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH65129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371610,976,150 - 10,976,282UniSTSGRCh37
Build 361610,883,651 - 10,883,783RGDNCBI36
Celera1611,145,576 - 11,145,708RGD
Cytogenetic Map16p13UniSTS
HuRef1610,893,993 - 10,894,125UniSTS
RH79123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371611,002,478 - 11,002,599UniSTSGRCh37
Build 361610,909,979 - 10,910,100RGDNCBI36
Celera1611,172,101 - 11,172,222RGD
Cytogenetic Map16p13UniSTS
HuRef1610,920,318 - 10,920,439UniSTS
GeneMap99-GB4 RH Map16111.24UniSTS
NCBI RH Map16110.7UniSTS
PMC125964P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371610,972,473 - 10,972,985UniSTSGRCh37
Build 361610,879,974 - 10,880,486RGDNCBI36
Celera1611,141,899 - 11,142,411RGD
Cytogenetic Map16p13UniSTS
HuRef1610,890,316 - 10,890,828UniSTS
PMC133907P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371610,972,597 - 10,972,809UniSTSGRCh37
Build 361610,880,098 - 10,880,310RGDNCBI36
Celera1611,142,023 - 11,142,235RGD
Cytogenetic Map16p13UniSTS
HuRef1610,890,440 - 10,890,652UniSTS
PMC133907P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371610,972,619 - 10,972,809UniSTSGRCh37
Build 361610,880,120 - 10,880,310RGDNCBI36
Celera1611,142,045 - 11,142,235RGD
Cytogenetic Map16p13UniSTS
HuRef1610,890,462 - 10,890,652UniSTS
PMC133907P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371610,972,619 - 10,972,728UniSTSGRCh37
Build 361610,880,120 - 10,880,229RGDNCBI36
Celera1611,142,045 - 11,142,154RGD
Cytogenetic Map16p13UniSTS
HuRef1610,890,462 - 10,890,571UniSTS
PMC133907P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371610,972,644 - 10,972,728UniSTSGRCh37
Build 361610,880,145 - 10,880,229RGDNCBI36
Celera1611,142,070 - 11,142,154RGD
Cytogenetic Map16p13UniSTS
HuRef1610,890,487 - 10,890,571UniSTS
PMC133916P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371610,970,774 - 10,970,988UniSTSGRCh37
Build 361610,878,275 - 10,878,489RGDNCBI36
Celera1611,140,200 - 11,140,414RGD
Cytogenetic Map16p13UniSTS
HuRef1610,888,617 - 10,888,831UniSTS
PMC316580P8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371610,970,761 - 10,971,059UniSTSGRCh37
Build 361610,878,262 - 10,878,560RGDNCBI36
Celera1611,140,187 - 11,140,485RGD
Cytogenetic Map16p13UniSTS
HuRef1610,888,604 - 10,888,902UniSTS
PMC83901P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371610,971,176 - 10,971,477UniSTSGRCh37
Build 361610,878,677 - 10,878,978RGDNCBI36
Celera1611,140,602 - 11,140,903RGD
Cytogenetic Map16p13UniSTS
HuRef1610,889,019 - 10,889,320UniSTS
STS-U18288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371611,002,185 - 11,002,434UniSTSGRCh37
Build 361610,909,686 - 10,909,935RGDNCBI36
Celera1611,171,808 - 11,172,057RGD
Cytogenetic Map16p13UniSTS
HuRef1610,920,025 - 10,920,274UniSTS
GeneMap99-GB4 RH Map16100.9UniSTS
SHGC-60649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371611,002,214 - 11,002,416UniSTSGRCh37
Build 361610,909,715 - 10,909,917RGDNCBI36
Celera1611,171,837 - 11,172,039RGD
Cytogenetic Map16p13UniSTS
HuRef1610,920,054 - 10,920,256UniSTS
GeneMap99-GB4 RH Map1699.26UniSTS
Whitehead-RH Map1658.7UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 160 163 134 18 1061 16 546 17 328 31 131 592 3 227 318 1
Low 2188 2739 1532 557 831 398 3403 1941 2400 353 1253 874 169 1 976 2278 2 1
Below cutoff 86 88 59 49 58 51 407 233 1003 34 76 142 3 1 192 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_932841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_932842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_932846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_932847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC133065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF000002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF000003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF000004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF410154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY084054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY084055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY699071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE247223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM193016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF064747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC068895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U18259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U18288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U31931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U67329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U94773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000324288   ⟹   ENSP00000316328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,877,202 - 10,936,394 (+)Ensembl
RefSeq Acc Id: ENST00000381835   ⟹   ENSP00000371257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,877,210 - 10,924,437 (+)Ensembl
RefSeq Acc Id: ENST00000537380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,877,331 - 10,910,243 (+)Ensembl
RefSeq Acc Id: ENST00000570546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,877,210 - 10,924,804 (+)Ensembl
RefSeq Acc Id: ENST00000571186   ⟹   ENSP00000459829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,877,223 - 10,902,722 (+)Ensembl
RefSeq Acc Id: ENST00000571190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,901,559 - 10,902,037 (+)Ensembl
RefSeq Acc Id: ENST00000571545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,928,164 - 10,932,222 (+)Ensembl
RefSeq Acc Id: ENST00000572665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,915,646 - 10,917,010 (+)Ensembl
RefSeq Acc Id: ENST00000573309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,877,216 - 10,908,887 (+)Ensembl
RefSeq Acc Id: ENST00000573379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,940,719 - 10,943,021 (+)Ensembl
RefSeq Acc Id: ENST00000575513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,922,925 - 10,923,992 (+)Ensembl
RefSeq Acc Id: ENST00000576601   ⟹   ENSP00000459608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,878,969 - 10,902,160 (+)Ensembl
RefSeq Acc Id: ENST00000618207   ⟹   ENSP00000484761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,877,198 - 10,924,983 (+)Ensembl
RefSeq Acc Id: ENST00000618327   ⟹   ENSP00000485010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,877,198 - 10,924,983 (+)Ensembl
RefSeq Acc Id: ENST00000636238   ⟹   ENSP00000490205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,866,260 - 10,901,564 (+)Ensembl
RefSeq Acc Id: ENST00000637439   ⟹   ENSP00000489907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,866,222 - 10,902,104 (+)Ensembl
RefSeq Acc Id: ENST00000644232   ⟹   ENSP00000495431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,922,167 - 10,943,021 (+)Ensembl
RefSeq Acc Id: ENST00000646979   ⟹   ENSP00000496240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,922,167 - 10,936,388 (+)Ensembl
RefSeq Acc Id: ENST00000695878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,877,226 - 10,900,552 (+)Ensembl
RefSeq Acc Id: ENST00000695879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,878,969 - 10,908,492 (+)Ensembl
RefSeq Acc Id: NM_000246   ⟹   NP_000237
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,202 - 10,936,394 (+)NCBI
GRCh371610,971,055 - 11,018,840 (+)ENTREZGENE
GRCh371610,971,055 - 11,018,840 (+)NCBI
Build 361610,878,556 - 10,926,341 (+)NCBI Archive
HuRef1610,888,898 - 10,936,424 (+)ENTREZGENE
CHM1_11610,970,985 - 11,018,760 (+)NCBI
T2T-CHM13v2.01610,913,172 - 10,972,371 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286402   ⟹   NP_001273331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,198 - 10,924,983 (+)NCBI
HuRef1610,888,898 - 10,936,424 (+)NCBI
CHM1_11610,970,985 - 11,018,760 (+)NCBI
T2T-CHM13v2.01610,913,168 - 10,960,958 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286403   ⟹   NP_001273332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,202 - 10,936,394 (+)NCBI
HuRef1610,888,898 - 10,936,424 (+)NCBI
CHM1_11610,970,985 - 11,018,760 (+)NCBI
T2T-CHM13v2.01610,913,172 - 10,972,371 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379330   ⟹   NP_001366259
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,202 - 10,936,394 (+)NCBI
T2T-CHM13v2.01610,913,172 - 10,972,371 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379331   ⟹   NP_001366260
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,202 - 10,936,394 (+)NCBI
T2T-CHM13v2.01610,913,172 - 10,972,371 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379332   ⟹   NP_001366261
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,202 - 10,936,394 (+)NCBI
T2T-CHM13v2.01610,913,172 - 10,972,371 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379333   ⟹   NP_001366262
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,202 - 10,936,394 (+)NCBI
T2T-CHM13v2.01610,913,172 - 10,972,371 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379334   ⟹   NP_001366263
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,878,967 - 10,936,394 (+)NCBI
T2T-CHM13v2.01610,914,937 - 10,972,371 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104444
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,202 - 10,936,394 (+)NCBI
HuRef1610,888,898 - 10,936,424 (+)NCBI
CHM1_11610,970,985 - 11,018,760 (+)NCBI
T2T-CHM13v2.01610,913,172 - 10,972,371 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720880   ⟹   XP_006720943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,866,206 - 10,936,394 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522484   ⟹   XP_011520786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,866,206 - 10,936,394 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522485   ⟹   XP_011520787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,866,206 - 10,943,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522486   ⟹   XP_011520788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,866,206 - 10,918,974 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522490   ⟹   XP_011520792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,878,967 - 10,936,394 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522491   ⟹   XP_011520793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,866,206 - 10,917,103 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434114   ⟹   XP_047290070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,866,330 - 10,936,394 (+)NCBI
RefSeq Acc Id: XM_047434115   ⟹   XP_047290071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,866,329 - 10,936,394 (+)NCBI
RefSeq Acc Id: XM_047434116   ⟹   XP_047290072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,878,967 - 10,936,394 (+)NCBI
RefSeq Acc Id: XM_047434117   ⟹   XP_047290073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,878,967 - 10,943,021 (+)NCBI
RefSeq Acc Id: XM_047434118   ⟹   XP_047290074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,866,329 - 10,936,394 (+)NCBI
RefSeq Acc Id: XM_047434119   ⟹   XP_047290075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,878,967 - 10,936,394 (+)NCBI
RefSeq Acc Id: XM_047434120   ⟹   XP_047290076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,198 - 10,943,021 (+)NCBI
RefSeq Acc Id: XM_047434122   ⟹   XP_047290078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,198 - 10,943,021 (+)NCBI
RefSeq Acc Id: XM_047434123   ⟹   XP_047290079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,866,206 - 10,936,394 (+)NCBI
RefSeq Acc Id: XM_047434124   ⟹   XP_047290080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,878,967 - 10,936,394 (+)NCBI
RefSeq Acc Id: XM_047434125   ⟹   XP_047290081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,878,967 - 10,936,394 (+)NCBI
RefSeq Acc Id: XM_047434126   ⟹   XP_047290082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,198 - 10,936,394 (+)NCBI
RefSeq Acc Id: XM_047434127   ⟹   XP_047290083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,198 - 10,936,394 (+)NCBI
RefSeq Acc Id: XM_047434128   ⟹   XP_047290084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,198 - 10,943,021 (+)NCBI
RefSeq Acc Id: XM_054380328   ⟹   XP_054236303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,902,175 - 10,972,371 (+)NCBI
RefSeq Acc Id: XM_054380329   ⟹   XP_054236304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,902,175 - 10,972,371 (+)NCBI
RefSeq Acc Id: XM_054380330   ⟹   XP_054236305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,902,175 - 10,978,992 (+)NCBI
RefSeq Acc Id: XM_054380331   ⟹   XP_054236306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,902,173 - 10,954,952 (+)NCBI
RefSeq Acc Id: XM_054380332   ⟹   XP_054236307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,902,298 - 10,972,371 (+)NCBI
RefSeq Acc Id: XM_054380333   ⟹   XP_054236308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,902,297 - 10,972,371 (+)NCBI
RefSeq Acc Id: XM_054380334   ⟹   XP_054236309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,914,937 - 10,972,371 (+)NCBI
RefSeq Acc Id: XM_054380335   ⟹   XP_054236310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,914,937 - 10,978,992 (+)NCBI
RefSeq Acc Id: XM_054380336   ⟹   XP_054236311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,902,297 - 10,972,371 (+)NCBI
RefSeq Acc Id: XM_054380337   ⟹   XP_054236312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,914,937 - 10,972,371 (+)NCBI
RefSeq Acc Id: XM_054380338   ⟹   XP_054236313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,914,937 - 10,972,371 (+)NCBI
RefSeq Acc Id: XM_054380339   ⟹   XP_054236314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,902,173 - 10,953,079 (+)NCBI
RefSeq Acc Id: XM_054380340   ⟹   XP_054236315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,913,168 - 10,978,992 (+)NCBI
RefSeq Acc Id: XM_054380341   ⟹   XP_054236316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,913,168 - 10,978,992 (+)NCBI
RefSeq Acc Id: XM_054380342   ⟹   XP_054236317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,902,210 - 10,972,371 (+)NCBI
RefSeq Acc Id: XM_054380343   ⟹   XP_054236318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,914,937 - 10,972,371 (+)NCBI
RefSeq Acc Id: XM_054380344   ⟹   XP_054236319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,914,937 - 10,972,371 (+)NCBI
RefSeq Acc Id: XM_054380345   ⟹   XP_054236320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,913,168 - 10,972,371 (+)NCBI
RefSeq Acc Id: XM_054380346   ⟹   XP_054236321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,913,168 - 10,972,371 (+)NCBI
RefSeq Acc Id: XM_054380347   ⟹   XP_054236322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,913,168 - 10,978,992 (+)NCBI
RefSeq Acc Id: XR_001751904
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,866,206 - 10,918,526 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007064879
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,878,967 - 10,938,121 (+)NCBI
RefSeq Acc Id: XR_007064880
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,198 - 10,943,021 (+)NCBI
RefSeq Acc Id: XR_008489090
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,914,937 - 10,974,098 (+)NCBI
RefSeq Acc Id: XR_008489091
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,913,168 - 10,978,992 (+)NCBI
RefSeq Acc Id: XR_008489092
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,902,173 - 10,954,504 (+)NCBI
RefSeq Acc Id: XR_008489093
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,902,173 - 10,952,615 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000237 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273331 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273332 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366259 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366260 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366261 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366262 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366263 (Get FASTA)   NCBI Sequence Viewer  
  XP_006720943 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520786 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520787 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520788 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520792 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520793 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290070 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290071 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290072 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290073 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290074 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290075 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290076 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290078 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290079 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290080 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290081 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290082 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290083 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290084 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236303 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236304 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236305 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236306 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236307 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236308 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236309 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236310 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236311 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236312 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236313 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236314 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236315 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236316 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236317 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236318 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236319 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236320 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236321 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236322 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA88861 (Get FASTA)   NCBI Sequence Viewer  
  AAA88862 (Get FASTA)   NCBI Sequence Viewer  
  AAA92364 (Get FASTA)   NCBI Sequence Viewer  
  AAB92362 (Get FASTA)   NCBI Sequence Viewer  
  AAB92363 (Get FASTA)   NCBI Sequence Viewer  
  AAC39714 (Get FASTA)   NCBI Sequence Viewer  
  AAL04118 (Get FASTA)   NCBI Sequence Viewer  
  AAM15723 (Get FASTA)   NCBI Sequence Viewer  
  AAM15724 (Get FASTA)   NCBI Sequence Viewer  
  AAU06586 (Get FASTA)   NCBI Sequence Viewer  
  ABK41930 (Get FASTA)   NCBI Sequence Viewer  
  CAA52354 (Get FASTA)   NCBI Sequence Viewer  
  CDL97011 (Get FASTA)   NCBI Sequence Viewer  
  EAW85168 (Get FASTA)   NCBI Sequence Viewer  
  EAW85169 (Get FASTA)   NCBI Sequence Viewer  
  EAW85170 (Get FASTA)   NCBI Sequence Viewer  
  EAW85171 (Get FASTA)   NCBI Sequence Viewer  
  EAW85172 (Get FASTA)   NCBI Sequence Viewer  
  EAW85173 (Get FASTA)   NCBI Sequence Viewer  
  EAW85174 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000316328
  ENSP00000316328.8
  ENSP00000371257
  ENSP00000371257.5
  ENSP00000459608.1
  ENSP00000459829.1
  ENSP00000484761.1
  ENSP00000485010
  ENSP00000485010.1
  ENSP00000489907.1
  ENSP00000490205.1
  ENSP00000495431.1
  ENSP00000496240.1
GenBank Protein P33076 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_000237   ⟸   NM_000246
- Peptide Label: isoform 2
- UniProtKB: Q96KL4 (UniProtKB/Swiss-Prot),   Q8SNB8 (UniProtKB/Swiss-Prot),   Q29675 (UniProtKB/Swiss-Prot),   E9PFE0 (UniProtKB/Swiss-Prot),   D3DUG0 (UniProtKB/Swiss-Prot),   A0N0N9 (UniProtKB/Swiss-Prot),   P33076 (UniProtKB/Swiss-Prot),   A0A0B4J1S1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273331   ⟸   NM_001286402
- Peptide Label: isoform 1
- UniProtKB: Q96KL4 (UniProtKB/Swiss-Prot),   Q8SNB8 (UniProtKB/Swiss-Prot),   Q29675 (UniProtKB/Swiss-Prot),   P33076 (UniProtKB/Swiss-Prot),   E9PFE0 (UniProtKB/Swiss-Prot),   D3DUG0 (UniProtKB/Swiss-Prot),   A0N0N9 (UniProtKB/Swiss-Prot),   A0A087X2I7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273332   ⟸   NM_001286403
- Peptide Label: isoform 3
- UniProtKB: P33076 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006720943   ⟸   XM_006720880
- Peptide Label: isoform X1
- UniProtKB: Q96KL4 (UniProtKB/Swiss-Prot),   Q8SNB8 (UniProtKB/Swiss-Prot),   Q29675 (UniProtKB/Swiss-Prot),   P33076 (UniProtKB/Swiss-Prot),   E9PFE0 (UniProtKB/Swiss-Prot),   D3DUG0 (UniProtKB/Swiss-Prot),   A0N0N9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520787   ⟸   XM_011522485
- Peptide Label: isoform X1
- UniProtKB: Q96KL4 (UniProtKB/Swiss-Prot),   Q8SNB8 (UniProtKB/Swiss-Prot),   Q29675 (UniProtKB/Swiss-Prot),   P33076 (UniProtKB/Swiss-Prot),   E9PFE0 (UniProtKB/Swiss-Prot),   D3DUG0 (UniProtKB/Swiss-Prot),   A0N0N9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520786   ⟸   XM_011522484
- Peptide Label: isoform X1
- UniProtKB: Q96KL4 (UniProtKB/Swiss-Prot),   Q8SNB8 (UniProtKB/Swiss-Prot),   Q29675 (UniProtKB/Swiss-Prot),   P33076 (UniProtKB/Swiss-Prot),   E9PFE0 (UniProtKB/Swiss-Prot),   D3DUG0 (UniProtKB/Swiss-Prot),   A0N0N9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520788   ⟸   XM_011522486
- Peptide Label: isoform X2
- UniProtKB: Q96KL4 (UniProtKB/Swiss-Prot),   Q8SNB8 (UniProtKB/Swiss-Prot),   Q29675 (UniProtKB/Swiss-Prot),   P33076 (UniProtKB/Swiss-Prot),   E9PFE0 (UniProtKB/Swiss-Prot),   D3DUG0 (UniProtKB/Swiss-Prot),   A0N0N9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520793   ⟸   XM_011522491
- Peptide Label: isoform X7
- UniProtKB: Q96KL4 (UniProtKB/Swiss-Prot),   Q8SNB8 (UniProtKB/Swiss-Prot),   Q29675 (UniProtKB/Swiss-Prot),   P33076 (UniProtKB/Swiss-Prot),   E9PFE0 (UniProtKB/Swiss-Prot),   D3DUG0 (UniProtKB/Swiss-Prot),   A0N0N9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520792   ⟸   XM_011522490
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001366261   ⟸   NM_001379332
- Peptide Label: isoform 1
- UniProtKB: Q96KL4 (UniProtKB/Swiss-Prot),   Q8SNB8 (UniProtKB/Swiss-Prot),   Q29675 (UniProtKB/Swiss-Prot),   P33076 (UniProtKB/Swiss-Prot),   E9PFE0 (UniProtKB/Swiss-Prot),   D3DUG0 (UniProtKB/Swiss-Prot),   A0N0N9 (UniProtKB/Swiss-Prot),   A0A087X2I7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001366259   ⟸   NM_001379330
- Peptide Label: isoform 4
- UniProtKB: Q96KL4 (UniProtKB/Swiss-Prot),   Q8SNB8 (UniProtKB/Swiss-Prot),   Q29675 (UniProtKB/Swiss-Prot),   P33076 (UniProtKB/Swiss-Prot),   E9PFE0 (UniProtKB/Swiss-Prot),   D3DUG0 (UniProtKB/Swiss-Prot),   A0N0N9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001366262   ⟸   NM_001379333
- Peptide Label: isoform 2
- UniProtKB: Q96KL4 (UniProtKB/Swiss-Prot),   Q8SNB8 (UniProtKB/Swiss-Prot),   Q29675 (UniProtKB/Swiss-Prot),   P33076 (UniProtKB/Swiss-Prot),   E9PFE0 (UniProtKB/Swiss-Prot),   D3DUG0 (UniProtKB/Swiss-Prot),   A0N0N9 (UniProtKB/Swiss-Prot),   A0A0B4J1S1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001366260   ⟸   NM_001379331
- Peptide Label: isoform 5
- UniProtKB: Q96KL4 (UniProtKB/Swiss-Prot),   Q8SNB8 (UniProtKB/Swiss-Prot),   Q29675 (UniProtKB/Swiss-Prot),   P33076 (UniProtKB/Swiss-Prot),   E9PFE0 (UniProtKB/Swiss-Prot),   D3DUG0 (UniProtKB/Swiss-Prot),   A0N0N9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001366263   ⟸   NM_001379334
- Peptide Label: isoform 6
- UniProtKB: Q66X48 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000490205   ⟸   ENST00000636238
RefSeq Acc Id: ENSP00000489907   ⟸   ENST00000637439
RefSeq Acc Id: ENSP00000459829   ⟸   ENST00000571186
RefSeq Acc Id: ENSP00000316328   ⟸   ENST00000324288
RefSeq Acc Id: ENSP00000459608   ⟸   ENST00000576601
RefSeq Acc Id: ENSP00000485010   ⟸   ENST00000618327
RefSeq Acc Id: ENSP00000484761   ⟸   ENST00000618207
RefSeq Acc Id: ENSP00000495431   ⟸   ENST00000644232
RefSeq Acc Id: ENSP00000371257   ⟸   ENST00000381835
RefSeq Acc Id: ENSP00000496240   ⟸   ENST00000646979
RefSeq Acc Id: XP_047290079   ⟸   XM_047434123
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047290071   ⟸   XM_047434115
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047290074   ⟸   XM_047434118
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047290070   ⟸   XM_047434114
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047290076   ⟸   XM_047434120
- Peptide Label: isoform X8
- UniProtKB: A0A087X2I7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047290078   ⟸   XM_047434122
- Peptide Label: isoform X9
- UniProtKB: A0A0B4J1S1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047290084   ⟸   XM_047434128
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047290082   ⟸   XM_047434126
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047290083   ⟸   XM_047434127
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047290073   ⟸   XM_047434117
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047290072   ⟸   XM_047434116
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047290080   ⟸   XM_047434124
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047290081   ⟸   XM_047434125
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047290075   ⟸   XM_047434119
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054236306   ⟸   XM_054380331
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054236314   ⟸   XM_054380339
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054236305   ⟸   XM_054380330
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054236304   ⟸   XM_054380329
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054236303   ⟸   XM_054380328
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054236317   ⟸   XM_054380342
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054236308   ⟸   XM_054380333
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054236311   ⟸   XM_054380336
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054236307   ⟸   XM_054380332
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054236315   ⟸   XM_054380340
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054236316   ⟸   XM_054380341
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054236322   ⟸   XM_054380347
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054236320   ⟸   XM_054380345
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054236321   ⟸   XM_054380346
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054236310   ⟸   XM_054380335
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054236309   ⟸   XM_054380334
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054236318   ⟸   XM_054380343
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054236319   ⟸   XM_054380344
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054236312   ⟸   XM_054380337
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054236313   ⟸   XM_054380338
- Peptide Label: isoform X3
Protein Domains
NACHT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P33076-F1-model_v2 AlphaFold P33076 1-1130 view protein structure

Promoters
RGD ID:7231319
Promoter ID:EPDNEW_H21405
Type:initiation region
Name:CIITA_2
Description:class II major histocompatibility complex transactivator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21406  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,866,206 - 10,866,266EPDNEW
RGD ID:7231321
Promoter ID:EPDNEW_H21406
Type:initiation region
Name:CIITA_1
Description:class II major histocompatibility complex transactivator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21405  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,877,202 - 10,877,262EPDNEW
RGD ID:6793063
Promoter ID:HG_KWN:23019
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000381835,   ENST00000388909,   OTTHUMT00000251966,   UC002DAG.2,   UC002DAH.2,   UC002DAJ.2,   UC010BUP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361610,878,356 - 10,878,856 (+)MPROMDB
RGD ID:6810907
Promoter ID:HG_ACW:29112
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:CIITA.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361610,880,044 - 10,880,544 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7067 AgrOrtholog
COSMIC CIITA COSMIC
Ensembl Genes ENSG00000179583 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000324288 ENTREZGENE
  ENST00000324288.14 UniProtKB/TrEMBL
  ENST00000381835 ENTREZGENE
  ENST00000381835.9 UniProtKB/Swiss-Prot
  ENST00000571186.5 UniProtKB/TrEMBL
  ENST00000576601.1 UniProtKB/TrEMBL
  ENST00000618207.4 UniProtKB/TrEMBL
  ENST00000618327 ENTREZGENE
  ENST00000618327.4 UniProtKB/TrEMBL
  ENST00000636238.1 UniProtKB/TrEMBL
  ENST00000637439.1 UniProtKB/TrEMBL
  ENST00000644232.1 UniProtKB/TrEMBL
  ENST00000646979.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000179583 GTEx
HGNC ID HGNC:7067 ENTREZGENE
Human Proteome Map CIITA Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHC_II_transact UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NACHT_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4261 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4261 ENTREZGENE
OMIM 600005 OMIM
PANTHER MHC CLASS II TRANSACTIVATOR UniProtKB/Swiss-Prot
  MHC CLASS II TRANSACTIVATOR UniProtKB/Swiss-Prot
  MHC CLASS II TRANSACTIVATOR UniProtKB/TrEMBL
  MHC CLASS II TRANSACTIVATOR UniProtKB/TrEMBL
Pfam LRR_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NACHT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30795 PharmGKB
PRINTS MHCIIACTVATR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NACHT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_RI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RNI-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X2I7 ENTREZGENE, UniProtKB/TrEMBL
  A0A0B4J1S1 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GU01_HUMAN UniProtKB/TrEMBL
  A0A1B0GUQ8_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7F5_HUMAN UniProtKB/TrEMBL
  A0A2R8YFU9_HUMAN UniProtKB/TrEMBL
  A0N0N9 ENTREZGENE
  C2TA_HUMAN UniProtKB/Swiss-Prot
  D3DUG0 ENTREZGENE
  E9PFE0 ENTREZGENE
  I3L2E5_HUMAN UniProtKB/TrEMBL
  I3L2P7_HUMAN UniProtKB/TrEMBL
  P33076 ENTREZGENE
  Q29675 ENTREZGENE
  Q29704_HUMAN UniProtKB/TrEMBL
  Q66X48 ENTREZGENE, UniProtKB/TrEMBL
  Q6LC19_HUMAN UniProtKB/TrEMBL
  Q8SNB8 ENTREZGENE
  Q96KL4 ENTREZGENE
UniProt Secondary A0N0N9 UniProtKB/Swiss-Prot
  D3DUG0 UniProtKB/Swiss-Prot
  E9PFE0 UniProtKB/Swiss-Prot
  Q29675 UniProtKB/Swiss-Prot
  Q8SNB8 UniProtKB/Swiss-Prot
  Q96KL4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 CIITA  class II major histocompatibility complex transactivator  CIITA  class II, major histocompatibility complex, transactivator  Symbol and/or name change 5135510 APPROVED