ClinVar Miner

Variants studied for inflammatory bowel disease

Included ClinVar conditions (30):
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 association likely risk allele protective risk factor not provided total
73 24 1134 853 164 9 1 1 5 5 2138

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele protective risk factor not provided total
NOD2 10 0 490 327 56 3 0 0 3 3 815
IL10RA 14 7 201 156 39 0 0 0 0 1 390
ADAM17, IAH1 7 3 114 102 21 0 0 0 0 0 243
ADAM17 8 2 91 102 9 0 0 0 0 1 211
IFNAR2-IL10RB, IL10RB 8 4 111 81 15 0 0 0 0 0 206
CYLD, NOD2 0 0 41 18 6 1 1 0 1 0 63
IL10 0 0 16 13 2 0 0 0 0 0 31
IL10, IL19 0 0 8 14 5 0 0 0 0 0 27
IL10, IL19, LOC128462409 0 0 13 10 2 0 0 0 0 0 25
IFNAR2-IL10RB, IL10RB, LOC130066558 0 2 10 11 0 0 0 0 0 0 23
IL10, IL19, LOC129932369 0 0 10 13 0 0 0 0 0 0 23
EGFR 4 0 3 1 6 0 0 0 0 0 14
IL10RA, LOC130006833 1 1 3 1 0 0 0 0 0 0 6
HSPA1L 0 0 0 0 0 5 0 0 0 0 5
RIPK1 5 0 0 0 0 0 0 0 0 0 5
SYK 2 2 1 0 0 0 0 0 0 0 5
ABCB1 0 0 3 0 0 0 0 0 1 0 4
CARD8 1 0 2 1 0 0 0 0 0 0 4
IL10RB 3 0 1 0 0 0 0 0 0 0 4
IL23R 0 0 0 2 0 0 0 1 0 0 3
ALPI 0 0 2 0 0 0 0 0 0 0 2
ARCN1, ATP5MG, BCL9L, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, FOXR1, H2AX, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MPZL2, MPZL3, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TMPRSS4, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 1 0 1 0 0 0 0 0 0 0 2
IL21, LOC126807147 1 0 1 0 0 0 0 0 0 0 2
IL37 1 0 1 0 0 0 0 0 0 0 2
INAVA 1 0 2 0 0 0 0 0 0 0 2
LOC130064510, TGFB1 2 0 0 0 0 0 0 0 0 0 2
ABCG4, APOA1, APOA4, APOC3, ARCN1, ARHGEF12, ATP5MG, BACE1, BCL9L, C1QTNF5, C2CD2L, CBL, CD3D, CD3E, CD3G, CENATAC, CEP164, CXCR5, DDX6, DPAGT1, DRC12, DSCAML1, FOXR1, FXYD2, FXYD6, FXYD6-FXYD2, GRIK4, H2AX, HINFP, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MCAM, MFRP, MPZL2, MPZL3, NECTIN1, NHERF4, NLRX1, OAF, PAFAH1B2, PCSK7, PHLDB1, POU2F3, RNF214, RNF26, RPS25, SC5D, SCN2B, SCN4B, SIDT2, SIK3, SLC37A4, SORL1, TAGLN, TBCEL, TECTA, THY1, TLCD5, TMEM25, TMPRSS13, TMPRSS4, TRAPPC4, TREH, TRIM29, TTC36, UBE4A, UPK2, USP2, VPS11 0 0 1 0 0 0 0 0 0 0 1
ATG16L1 0 0 1 0 0 0 0 0 0 0 1
BRPF3 0 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 0 1
CHEK2 1 0 0 0 0 0 0 0 0 0 1
CIITA 0 0 1 0 0 0 0 0 0 0 1
CYLD, NOD2, SALL1 0 0 1 0 0 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 0 0 0 1
FMNL2 0 1 0 0 0 0 0 0 0 0 1
IFNAR2-IL10RB, IL10RB, LOC130066558, LOC130066559, LOC130066560 0 0 1 0 0 0 0 0 0 0 1
IL21 0 0 0 0 1 0 0 0 0 0 1
IRGM 1 0 0 0 1 0 0 0 0 0 1
KRT8 0 0 0 1 0 0 0 0 0 0 1
LOC126807125, SLC39A8 0 0 0 0 1 0 0 0 0 0 1
LOC129994569, MIR3936HG, SLC22A5 0 0 1 0 0 0 0 0 0 0 1
MYO5B 0 1 0 0 0 0 0 0 0 0 1
MYO5B, SNHG22 0 1 0 0 0 0 0 0 0 0 1
PRKCQ 1 0 0 0 0 0 0 0 0 0 1
TGFB1 1 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele protective risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 43 10 958 795 133 4 0 0 0 0 1943
Illumina Laboratory Services, Illumina 0 1 163 58 39 0 0 0 0 0 261
OMIM 15 0 1 0 1 0 0 1 5 0 23
Fulgent Genetics, Fulgent Genetics 0 0 10 12 0 0 0 0 0 0 22
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 18 1 0 0 0 0 0 0 19
Baylor Genetics 1 1 13 0 0 0 0 0 0 0 15
Genome-Nilou Lab 0 0 0 0 14 0 0 0 0 0 14
Klein lab, Ludwig-Maximilians-University 8 0 0 0 0 0 0 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 4 1 1 0 0 0 0 0 6
Human Development and Health, University of Southampton 0 0 0 0 0 5 0 0 0 0 5
Aleixo Muise Laboratory, Hospital For Sick Children 2 2 1 0 0 0 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 2 0 0 0 0 0 4
Center for Molecular Medicine, Children’s Hospital of Fudan University 3 1 0 0 0 0 0 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 2 1 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 4 4
Revvity Omics, Revvity 0 0 3 0 0 0 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 2 0 0 0 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 2 0 0 0 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 0 0 0 0 3
Mendelics 1 1 0 0 0 0 0 0 0 0 2
Clinical Bioinformatic Lab, Royan Institute 1 1 0 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 1 0 0 0 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 0 0 0 0 2
Gastroenterology Laboratory, Children's Hospital of Zhejiang University School of Medicine 0 2 0 0 0 0 0 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 0 0 0 0 1
Lab of Gastroenterology, College of Medicine, First Affiliate Hospital of Zhejiang University 1 0 0 0 0 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 0 0 0 0 1
3billion 0 1 0 0 0 0 0 0 0 0 1
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 0 1 0 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 0 0 0 1

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