ClinVar Miner

Variants studied for B cell deficiency

Included ClinVar conditions (65):
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 established risk allele likely risk allele risk factor not provided total
741 329 4538 3482 689 2 1 1 32 9560

Gene and significance breakdown #

Total genes and gene combinations: 114
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele likely risk allele risk factor not provided total
LRBA 106 56 930 820 101 0 0 0 4 1981
PIK3CD 10 7 285 389 54 0 0 0 1 724
DOCK8 67 34 470 24 65 0 0 0 5 652
STAT3 43 32 252 265 59 0 0 0 7 638
CR2 40 15 313 253 29 0 0 0 0 637
NFKB2 6 5 253 282 31 0 0 0 1 569
PIK3R1 24 8 230 202 20 0 0 0 1 478
TNFRSF13B 36 11 174 108 16 2 0 1 3 324
SPINK5 33 20 160 12 57 0 0 0 2 276
CD40LG 78 19 70 76 34 0 0 0 2 270
UNG 16 5 132 107 10 0 0 0 1 258
AICDA 22 17 130 77 21 0 0 0 0 255
IGLL1 3 0 136 72 23 0 0 0 2 226
BLNK 5 4 88 112 16 0 0 0 0 223
TNFSF12, TNFSF12-TNFSF13 0 0 117 84 11 0 0 0 0 212
ICOS 9 3 80 59 22 0 0 0 0 166
CD79B, GH-LCR 2 0 55 100 8 0 0 0 0 165
BTK 100 37 16 7 10 0 1 0 0 162
CD79A 4 2 71 72 3 0 0 0 0 150
LOC126805612, PIK3CD 1 0 56 69 6 0 0 0 0 131
LOC130067574, TNFRSF13C 1 1 72 50 8 0 0 0 0 120
LOC130004599, NFKB2 0 0 49 43 4 0 0 0 0 96
BLNK, ZNF518A 3 0 37 47 4 0 0 0 0 91
CR2, LOC126805994 8 1 40 35 3 0 0 0 0 84
NFKB1 20 19 17 4 7 0 0 0 0 63
CD19 6 1 44 5 4 0 0 0 0 59
TNFRSF13C 0 0 35 20 5 0 0 0 0 55
TCF3 5 2 21 13 3 0 0 0 0 43
CD40 6 1 24 3 9 0 0 0 0 42
LOC130060888, STAT3 0 0 11 18 3 0 0 0 0 31
LOC130060153, TNFSF12, TNFSF12-TNFSF13 0 0 18 11 1 0 0 0 0 30
IKZF1 9 6 11 1 3 0 0 0 0 29
ZNF341 5 2 9 1 3 0 0 0 0 20
LRRC8A 0 0 1 6 13 0 0 0 0 18
IL6ST 9 0 8 0 1 0 0 0 0 17
LOC121815964, NFKB2 0 0 9 7 1 0 0 0 0 17
LOC130004598, NFKB2 0 0 7 8 1 0 0 0 0 16
DOCK8, LOC126860552 1 1 11 0 2 0 0 0 0 15
IRF2BP2 1 2 8 1 3 0 0 0 0 15
IGH, IGHM 5 2 0 1 4 0 0 0 2 12
LOC130008712, UNG 0 1 3 8 0 0 0 0 0 12
CD81 1 0 5 4 1 0 0 0 0 11
IRF2BP2, LOC129932812 1 2 4 0 3 0 0 0 0 10
DOCK8, LOC126860552, LOC130001437, LOC130001438, LOC130001439, LOC130001440 3 0 6 0 0 0 0 0 0 9
DOCK8, LOC130001437 1 0 8 0 0 0 0 0 0 9
LOC130060889, STAT3 0 0 5 4 0 0 0 0 0 9
SLC39A7 5 1 2 0 0 0 0 0 0 8
SPI1 5 4 0 0 0 0 0 0 0 8
IL6R 2 0 4 0 0 0 0 0 1 7
LRBA, MAB21L2 4 1 2 0 0 0 0 0 0 7
MS4A1 1 0 5 0 1 0 0 0 0 7
CD40, LOC127893450 0 0 3 1 2 0 0 0 0 6
STAT6 6 0 0 0 0 0 0 0 0 6
DOCK8, KANK1 0 0 4 0 0 0 0 0 0 4
DOCK8, LOC126860552, LOC130001439, LOC130001440 0 3 1 0 0 0 0 0 0 4
LOC126807127, NFKB1 1 1 1 0 0 0 0 0 0 3
ABI2, ALS2, BMPR2, C2CD6, CARF, CASP10, CASP8, CD28, CDK15, CFLAR, CTLA4, CYP20A1, FAM117B, FLACC1, FZD7, ICA1L, ICOS, MPP4, NBEAL1, NDUFB3, NOP58, RAPH1, STRADB, SUMO1, TMEM237, TRAK2, WDR12 1 0 1 0 0 0 0 0 0 2
ACACB, UNG 0 0 2 0 0 0 0 0 0 2
CTLA4, ICOS 2 0 0 0 0 0 0 0 0 2
DOCK8, LOC130001436 0 0 1 0 1 0 0 0 0 2
IL21, LOC126807147 1 0 1 0 0 0 0 0 0 2
IRF2BP2, LOC129932811 0 0 2 0 0 0 0 0 0 2
LOC123493218, LRBA 1 0 1 0 0 0 0 0 0 2
LOC130060892, STAT3 0 0 2 0 0 0 0 0 0 2
NFKBID 0 0 2 0 0 0 0 0 0 2
PGM3 2 0 0 0 0 0 0 0 0 2
RAG2 2 0 0 0 0 0 0 0 0 2
RUVBL1, SEC61A1 1 0 1 0 0 0 0 0 0 2
SH3KBP1 1 0 0 1 0 0 0 0 0 2
TTC7A 2 0 0 0 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 0 0 1
A4GALT, ACO2, ATP5MGL, CCDC134, CENPM, CHADL, CSDC2, CYB5R3, CYP2D6, DESI1, EP300, L3MBTL2, MEI1, MIR33A, NAGA, NDUFA6, NFAM1, PHETA2, PHF5A, PMM1, POLDIP3, POLR3H, RANGAP1, RBX1, RRP7A, SEPTIN3, SERHL2, SHISA8, SMDT1, SNU13, SREBF2, TCF20, TEF, TNFRSF13C, TOB2, WBP2NL, XPNPEP3, XRCC6, ZC3H7B 0 0 1 0 0 0 0 0 0 1
ACADVL, ACAP1, ALOX12, ALOX12B, ALOX15B, ALOXE3, ASGR1, ASGR2, ATP1B2, AURKB, BACC1, BCL6B, BORCS6, CD68, CHD3, CHRNB1, CLDN7, CLEC10A, CNTROB, CTC1, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, MIR195, MIR497HG, MPDU1, NAA38, NEURL4, NLGN2, PER1, PHF23, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM107, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53, XAF1, YBX2, ZBTB4 0 0 1 0 0 0 0 0 0 1
ACADVL, ACAP1, ATP1B2, CD68, CHRNB1, CLDN7, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FGF11, FXR2, GABARAP, GPS2, KCTD11, MPDU1, NEURL4, NLGN2, PHF23, PLSCR3, POLR2A, SAT2, SENP3, SHBG, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TMEM102, TMEM256, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, WRAP53, YBX2, ZBTB4 0 0 1 0 0 0 0 0 0 1
ACO2, CCDC134, CENPM, CSDC2, DESI1, LOC105373044, LOC108348030, LOC110740341, LOC111562373, LOC112695098, LOC121627945, LOC121627946, LOC125446244, LOC126863159, LOC126863160, LOC130067537, LOC130067538, LOC130067539, LOC130067540, LOC130067541, LOC130067542, LOC130067543, LOC130067544, LOC130067545, LOC130067546, LOC130067547, LOC130067548, LOC130067549, LOC130067550, LOC130067551, LOC130067552, LOC130067553, LOC130067554, LOC130067555, LOC130067556, LOC130067557, LOC130067558, LOC130067559, LOC130067560, LOC130067561, LOC130067562, LOC130067563, LOC130067564, LOC130067565, LOC130067566, LOC130067567, LOC130067568, LOC130067569, LOC130067570, LOC130067571, LOC130067572, LOC130067573, LOC130067574, LOC130067575, LOC130067576, LOC130067577, LOC130067578, LOC130067579, LOC130067580, LOC130067581, MEI1, MIR33A, MIR378I, NAGA, PHF5A, PMM1, POLR3H, RANGAP1, SEPTIN3, SHISA8, SMIM45, SNU13, SREBF2, TEF, TNFRSF13C, TOB2, WBP2NL, XRCC6, ZC3H7B 0 0 1 0 0 0 0 0 0 1
ADGRG4, ARHGEF6, BRS3, CD40LG, FHL1, GPR101, HTATSF1, MAP7D3, RBMX, SLC9A6, VGLL1, ZIC3 1 0 0 0 0 0 0 0 0 1
AICDA, CLEC4D, CLEC4E, CLEC6A 1 0 0 0 0 0 0 0 0 1
ALDH18A1, BLNK, C10orf131, CC2D2B, CCNJ, ENTPD1, TCTN3, ZNF518A 0 0 1 0 0 0 0 0 0 1
ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC5A10, SMCR8, SNORD3A, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B 0 0 1 0 0 0 0 0 0 1
ANGPTL7, C1orf127, CASZ1, CENPS, CENPS-CORT, CLSTN1, CORT, CTNNBIP1, DFFA, EXOSC10, KIF1B, LZIC, MASP2, MTOR, NMNAT1, PEX14, PGD, PIK3CD, RBP7, SRM, TARDBP, UBE4B 0 0 1 0 0 0 0 0 0 1
ARID4B, B3GALNT2, COA6, GGPS1, GNG4, IRF2BP2, KCNK1, LINC00184, LINC01132, LINC01348, LINC01354, LINC02768, LINC02961, LINC02971, LINC03108, LNCATV, LOC101927787, LOC105373209, LOC107546745, LOC107546746, LOC107546747, LOC107548103, LOC111365197, LOC111365208, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC126264117, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129869688, LOC129932784, LOC129932785, LOC129932786, LOC129932787, LOC129932788, LOC129932789, LOC129932790, LOC129932791, LOC129932792, LOC129932793, LOC129932794, LOC129932795, LOC129932796, LOC129932797, LOC129932798, LOC129932799, LOC129932800, LOC129932801, LOC129932802, LOC129932803, LOC129932804, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932813, LOC129932814, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932820, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LOC129932860, LOC129932861, LOC129932862, LOC129932863, LOC129932864, LOC132088683, LOC132088684, LYST, MIR1537, MIR4427, MIR4671, MIR4753, NID1, RBM34, SLC35F3, SNORA14B, TARBP1, TBCE, TOMM20 1 0 0 0 0 0 0 0 0 1
BANK1, BDH2, CENPE, CISD2, MANBA, NFKB1, SLC39A8, SLC9B1, SLC9B2, TACR3, UBE2D3 0 1 0 0 0 0 0 0 0 1
BCLAF3, SH3KBP1 0 0 1 0 0 0 0 0 0 1
BTK, TIMM8A 0 1 0 0 0 0 0 0 0 1
C1orf116, C4BPA, C4BPB, CD34, CD46, CD55, CR1, CR1L, CR2, FCAMR, FCMR, IL10, IL19, IL20, IL24, MIR29B2CHG, MIR29C, PFKFB2, PIGR, PLXNA2, YOD1 0 0 1 0 0 0 0 0 0 1
C22orf15, CHCHD10, DERL3, DRICH1, IGLL1, MIF, MMP11, RGL4, SLC2A11, SMARCB1, VPREB3, ZNF70 0 0 1 0 0 0 0 0 0 1
CAVIN1, STAT3, STAT5A, STAT5B 0 0 1 0 0 0 0 0 0 1
CCDC40 1 0 0 0 0 0 0 0 0 1
CD40LG, LOC130068753 1 0 0 0 0 0 0 0 0 1
CD79A, RPS19 0 0 1 0 0 0 0 0 0 1
CENPS, CENPS-CORT, CLSTN1, CORT, CTNNBIP1, DFFA, KIF1B, LZIC, NMNAT1, PEX14, PGD, PIK3CD, RBP7, UBE4B 0 0 1 0 0 0 0 0 0 1
CR2, LOC129932399 0 0 0 0 1 0 0 0 0 1
CTLA4 0 1 0 0 0 0 0 0 0 1
DMRT1, DOCK8, KANK1 0 0 1 0 0 0 0 0 0 1
DOCK8, LOC110120718, LOC126860552, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440, ZNG1A 1 0 0 0 0 0 0 0 0 1
DOCK8, LOC126860552, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440 1 0 0 0 0 0 0 0 0 1
DOCK8, LOC130001435 0 0 0 0 1 0 0 0 0 1
DOCK8, LOC130001437, LOC130001438 0 0 1 0 0 0 0 0 0 1
DOCK8, LOC130001438 0 0 1 0 0 0 0 0 0 1
DOP1A, PGM3 1 0 0 0 0 0 0 0 0 1
EFCAB13-DT, ITGB3 1 0 0 0 0 0 0 0 0 1
IGHM 1 0 0 0 0 0 0 0 0 1
IKBKG 0 0 1 0 0 0 0 0 0 1
IL21 0 0 0 0 1 0 0 0 0 1
LOC108281188, LOC123493218, LOC129993220, LRBA 0 0 1 0 0 0 0 0 0 1
LOC108281188, LOC129993220, LRBA 0 0 1 0 0 0 0 0 0 1
LOC108281188, LOC129993221, LOC129993222, LOC129993223, LRBA 1 0 0 0 0 0 0 0 0 1
LOC121815964, LOC130004598, LOC130004599, NFKB2 0 0 1 0 0 0 0 0 0 1
LOC123493216, LOC129993219, LRBA 1 0 0 0 0 0 0 0 0 1
LOC129993220, LRBA 0 0 1 0 0 0 0 0 0 1
MANBA, NFKB1 1 0 0 0 0 0 0 0 0 1
NFKB2, PSD 1 0 0 0 0 0 0 0 0 1
SEC61A1 1 0 0 0 0 0 0 0 0 1
STIM1 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 122
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele likely risk allele risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 394 100 3834 3342 444 0 0 0 0 8114
Illumina Laboratory Services, Illumina 2 2 442 62 170 0 0 0 0 678
OMIM 221 0 0 0 0 0 0 0 0 221
Genome-Nilou Lab 3 3 45 11 115 0 0 0 0 177
Fulgent Genetics, Fulgent Genetics 17 30 78 31 5 0 0 0 0 161
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 15 34 79 0 0 0 0 130
Baylor Genetics 11 4 90 0 0 0 0 0 0 105
Neuberg Centre For Genomic Medicine, NCGM 7 18 56 0 0 0 0 0 0 81
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 4 67 3 1 0 0 0 0 80
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 32 37 2 3 3 0 0 0 0 77
Revvity Omics, Revvity 2 7 45 0 0 0 0 0 0 54
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 9 17 19 1 1 0 0 0 0 47
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 20 21 0 0 0 0 0 0 47
3billion, Medical Genetics 21 10 3 7 0 0 0 0 0 41
New York Genome Center 0 2 28 0 0 0 0 0 0 30
Mendelics 10 8 7 4 0 0 0 0 0 29
Institute of Human Genetics, University of Leipzig Medical Center 12 8 7 0 0 0 0 0 0 27
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 17 0 1 0 0 0 0 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 1 4 0 0 0 0 0 0 16
National Institute of Immunohaematology, Indian Council of Medical Research 5 9 2 0 0 0 0 0 0 16
Rarefied Biosciences Lab 0 2 0 13 0 0 0 0 0 15
Genetics and Molecular Pathology, SA Pathology 0 3 8 3 0 0 0 0 0 14
Juno Genomics, Hangzhou Juno Genomics, Inc 7 1 5 0 0 0 0 0 0 13
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 9 3 0 0 0 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 4 6 0 0 0 0 0 0 12
NIHR Bioresource Rare Diseases, University of Cambridge 10 1 1 0 0 0 0 0 0 12
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 12 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 4 6 0 0 0 0 11
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 4 0 4 2 1 0 0 0 0 11
Centogene AG - the Rare Disease Company 2 3 5 0 0 0 0 0 0 10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 1 5 0 0 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 10 10
SIB Swiss Institute of Bioinformatics 7 2 0 0 0 0 0 0 0 9
Johns Hopkins Genomics, Johns Hopkins University 3 1 5 0 0 0 0 0 0 9
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 5 0 0 0 0 0 0 8
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 6 3 0 0 0 0 0 0 0 8
GeneReviews 0 0 0 0 0 0 0 0 7 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 5 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 1 0 0 0 0 7
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 6 0 0 0 0 0 0 0 0 6
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 0 0 0 4 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 5 0 0 0 0 0 0 0 6
Immunology Clinic, Ucla 3 0 0 2 1 0 0 0 0 6
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 3 3 0 0 0 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 1 0 0 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 1 0 0 0 0 0 0 5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 5 0 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 4 0 0 0 0 0 0 5
Department of Human Genetics, Hannover Medical School 0 1 4 0 0 0 0 0 0 5
Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital 1 1 2 0 0 0 1 0 0 5
Institute of Human Genetics, Cologne University 1 2 1 0 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 0 0 0 0 4
Samuels research lab, Centre de Recherche du CHU Ste-Justine 4 0 0 0 0 0 0 0 0 4
Department of Immunology, University Hospital Southampton NHSFT 4 0 0 0 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 3 0 0 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 0 0 0 4
Genomics Facility, Ludwig-Maximilians-Universität München 2 2 0 0 0 0 0 0 0 4
Healthincode, Healthincode group 2 2 0 0 0 0 0 0 0 4
Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis 4 0 0 0 0 0 0 0 0 4
Centre of Chronic Immunodeficiency, Freiburg University 3 0 0 0 0 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 0 1 0 3
Immunogenetics Laboratory, Johns Hopkins All Children's Hospital 1 2 0 0 0 0 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 2 0 0 0 0 0 0 0 3
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 2 1 0 0 0 0 0 0 0 3
Suma Genomics 2 0 1 0 0 0 0 0 0 3
Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo 0 1 2 0 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 2 0 0 0 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 0 2 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 0 0 0 2
Immunodeficiencies, Instituto Nacional de Pediatria 2 0 0 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 0 0 0 2
Narges Medical Genetic and Prenatal Diagnosis Lab 0 2 0 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory - Diagnostics Genetics, LabPLUS - Auckland City Hospital 1 0 0 0 0 0 0 0 0 1
Department of Medicine, University of Cambridge 1 0 0 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Genetech, Genetech Research Institute 0 0 1 0 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 0 0 1
Fundacion Publica Galega de Medicina Xenomica, Servicio Galego de Saude 1 0 0 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 0 0 0 1
Biomedical Innovation Departament, CIEMAT 1 0 0 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 0 0 0 1
Routes Lab, Medical College of Wisconsin 1 0 0 0 0 0 0 0 0 1
Clinical Immunology, Karolinska University Hospital 1 0 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 0 0 0 1
Servicio de Inmunologia, Hospital Universitario Virgen del Rocio 1 0 0 0 0 0 0 0 0 1
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 0 1 0 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 0 0 1
Molecular Oncology, MVR Cancer Centre and Research Institute 1 0 0 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 1 0 0 0 0 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 1 0 0 0 0 0 0 0 1
The Clinical Immunogenomics Research Consortium Australasia, Garvan Institute of Medical Research 0 0 0 0 1 0 0 0 0 1
Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (NIIH), Indian Council of Medical Research (ICMR) 1 0 0 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.