ClinVar Miner

Variants studied for MHC class II deficiency

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
107 43 990 1213 126 2 2353

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CIITA 57 18 541 932 81 1 1547
RFX5 23 11 220 91 20 0 353
RFXANK 16 10 96 114 8 0 224
RFXAP 5 1 66 26 10 0 105
LOC130009573, RFXAP 1 2 26 15 1 1 41
CIITA, LOC130058443 1 0 8 13 0 0 22
NR2C2AP, RFXANK 1 1 9 11 3 0 21
LOC130009575, RFXAP 1 0 10 8 0 0 19
LOC130009574, RFXAP 1 0 6 2 2 0 10
CIITA, LOC130058442 0 0 3 0 1 0 4
LOC126805858, RFX5 0 0 3 1 0 0 4
ABAT, ATF7IP2, CARHSP1, CIITA, CLEC16A, DEXI, EMP2, GRIN2A, HAPSTR1, LITAF, NUBP1, PMM2, PRM1, PRM2, PRM3, RMI2, SOCS1, TEKT5, TMEM186, TNP2, TVP23A, USP7 0 0 1 0 0 0 1
ADAM15, ADAMTSL4, ADAR, ANP32E, ANXA9, APH1A, AQP10, ARHGEF2, ARNT, ASH1L, ATP8B2, BCAN, BGLAP, BNIPL, C1orf43, C1orf54, C1orf56, C2CD4D, CA14, CCT3, CDC42SE1, CELF3, CERS2, CFAP141, CGN, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CRABP2, CRCT1, CREB3L4, CRNN, CRTC2, CTSK, CTSS, DAP3, DCST1, DCST2, DENND4B, DPM3, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ENTREP3, FALEC, FDPS, FLAD1, FLG, FLG2, GABPB2, GATAD2B, GBA1, GLMP, GOLPH3L, GON4L, GPATCH4, HAPLN2, HAX1, HCN3, HDGF, HORMAD1, HRNR, IL6R, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, IVL, JTB, KCNN3, KHDC4, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LELP1, LENEP, LINGO4, LMNA, LOC101928034, LORICRIN, LYSMD1, MCL1, MEF2D, METTL25B, MEX3A, MINDY1, MIR9-1, MIR9-1HG, MLLT11, MRPL24, MRPL9, MRPS21, MSTO1, MTMR11, MTX1, MUC1, NAXE, NES, NPR1, NTRK1, NUP210L, OAZ3, OTUD7B, PAQR6, PBXIP1, PGLYRP3, PGLYRP4, PI4KB, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGZ, PRCC, PRPF3, PRR9, PRUNE1, PSMB4, PSMD4, PYGO2, RAB13, RAB25, RFX5, RHBG, RIIAD1, RIT1, RORC, RPRD2, RPS27, RPTN, RUSC1, RXFP4, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCNM1, SELENBP1, SEMA4A, SEMA6C, SETDB1, SF3B4, SH2D2A, SHC1, SHE, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SMCP, SMG5, SNAPIN, SNX27, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SSR2, SYT11, TARS2, TCHH, TCHHL1, TDRD10, TDRKH, THBS3, THEM4, THEM5, TMEM79, TMOD4, TNFAIP8L2, TPM3, TRIM46, TSACC, TTC24, TUFT1, UBAP2L, UBE2Q1, UBQLN4, VHLL, VPS45, VPS72, YY1AP1, ZBTB7B, ZNF687 0 0 1 0 0 0 1
CIITA, EMP2, NUBP1, TEKT5, TVP23A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 100 23 759 1172 93 0 2147
Illumina Laboratory Services, Illumina 0 0 205 27 54 0 286
Natera, Inc. 1 2 162 48 30 0 243
Genome-Nilou Lab 0 0 22 2 31 0 55
Baylor Genetics 2 2 7 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 6 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 8 0 0 0 9
Revvity Omics, Revvity 1 2 3 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 3 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 1 1 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 1 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
3billion 1 0 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
School of Computer Science, University of Waterloo 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 0 1

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