ClinVar Miner

Variants studied for MHC class II deficiency

Coded as:
Minimum submission review status: Collection method:
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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
114 47 1001 1300 126 2 2462

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CIITA 58 20 553 961 81 1 1592
RFX5 25 12 221 118 20 0 384
RFXANK 17 10 95 136 8 0 245
RFXAP 5 1 66 29 10 0 108
LOC130009573, RFXAP 2 2 26 17 1 1 44
CIITA, LOC130058443 1 0 8 14 0 0 23
LOC130009575, RFXAP 1 1 9 10 0 0 21
NR2C2AP, RFXANK 1 1 9 11 3 0 21
LOC130009574, RFXAP 1 0 6 3 2 0 11
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
ALG5, EXOSC8, RFXAP, SMAD9 1 0 0 0 0 0 1
CIITA, CLEC16A, DEXI, LITAF, PRM1, PRM2, PRM3, RMI2, SOCS1, TNP2 1 0 0 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
Labcorp Genetics (formerly Invitae), Labcorp 106 26 772 1259 93 0 2256
Illumina Laboratory Services, Illumina 0 0 204 27 54 0 285
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 4 7 0 0 0 0 11
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 1 1 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 3 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, Medical Genetics 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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