ClinVar Miner

Variants studied for autoimmune enteropathy

Included ClinVar conditions (4):
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 likely risk allele uncertain risk allele not provided total
71 32 309 344 71 3 1 2 801

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
STAT1 37 19 186 241 28 0 0 2 507
FOXP3 32 12 120 103 43 3 1 0 288
AKAP4, ARAF, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CDK16, CFP, CLCN5, DGKK, EBP, ELK1, ERAS, FOXP3, FTSJ1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, INE1, JADE3, KCND1, LINC01560, MAGIX, MIR502, MIR532, NDUFB11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM10, RBM3, RGN, RP2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SUV39H1, SYN1, SYP, TBC1D25, TFE3, TIMM17B, TIMP1, UBA1, USP11, USP27X, UXT, WAS, WDR13, WDR45, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81 1 0 0 0 0 0 0 0 1
ANKAR, ASNSD1, C2orf88, COL3A1, COL5A2, GLS, HIBCH, INPP1, MFSD6, MSTN, NAB1, NEMP2, ORMDL1, OSGEPL1, PMS1, SLC40A1, STAT1, STAT4, WDR75 0 0 1 0 0 0 0 0 1
CACNA1F, CCDC22, CLCN5, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GPKOW, MAGIX, MIR502, MIR532, PAGE1, PAGE4, PLP2, PPP1R3F, PRICKLE3, SYP, USP27X, WDR45 0 0 1 0 0 0 0 0 1
CCDC22, FOXP3 0 0 1 0 0 0 0 0 1
IL21R 0 1 0 0 0 0 0 0 1
STAT1, STAT4 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 40 21 288 332 70 0 0 0 751
OMIM 33 0 0 0 0 0 0 0 33
Fulgent Genetics, Fulgent Genetics 0 0 16 13 0 0 0 0 29
Baylor Genetics 2 2 5 0 0 0 0 0 9
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 1 1 1 3 1 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 3 2 0 0 0 0 6
3billion 2 0 2 0 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 3 0 1 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 3 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 1 1 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 0 0 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 0 0 0 2
Mendelics 1 0 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 1 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 0 1
Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis 1 0 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 1

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