ClinVar Miner

Variants studied for Tatton-Brown-Rahman overgrowth syndrome

Included ClinVar conditions (5):
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
58 25 147 170 21 11 423

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 not provided total
DNMT3A 54 25 142 167 21 10 410
DNMT3A, LOC129933290 1 0 3 3 0 0 7
ABHD1, ADCY3, ADGRF3, AGBL5, ASXL2, ATRAID, BABAM2, CAD, CCDC121, CENPA, CENPO, CGREF1, CIB4, CIMIP2C, DNAJC27, DNAJC5G, DNMT3A, DPYSL5, DRC1, DTNB, EFR3B, EIF2B4, EMILIN1, FNDC4, FOSL2, GAREM2, GCKR, GPN1, GTF3C2, HADHA, HADHB, IFT172, ITSN2, KCNK3, KHK, KIF3C, KRTCAP3, MAPRE3, MPV17, MRPL33, NCOA1, NRBP1, OST4, OTOF, PLB1, POMC, PPM1G, PPP1CB, PREB, PRR30, PTRHD1, RAB10, RBKS, SELENOI, SLC30A3, SLC35F6, SLC4A1AP, SLC5A6, SNX17, SPATA31H1, SUPT7L, TCF23, TMEM214, TRIM54, UCN, ZNF512, ZNF513 0 0 1 0 0 0 1
ADCY3, ASXL2, CENPO, DNAJC27, DNMT3A, DTNB, EFR3B, GAREM2, HADHA, HADHB, KIF3C, NCOA1, POMC, PTRHD1, RAB10 0 0 0 0 0 1 1
ADCY3, ASXL2, CENPO, DNAJC27, DNMT3A, DTNB, EFR3B, ITSN2, NCOA1, POMC, PTRHD1 1 0 0 0 0 0 1
DNMT3A, LOC122756673, LOC129933287, LOC129933288, LOC129933289, LOC129933290, LOC129933291, LOC129933292, LOC129933293, LOC129933294, LOC129933295, LOC129933296, LOC129933297, LOC129933298, MIR1301 1 0 0 0 0 0 1
DNMT3A, LOC129933288 0 0 1 0 0 0 1
DNMT3A, POMC 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 36 7 139 168 21 0 371
GenomeConnect - Brain Gene Registry 0 0 0 0 0 8 8
OMIM 7 0 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 4 0 0 0 7
New York Genome Center 3 0 2 0 0 0 5
Genologica Medica 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 1 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1 0 2
Illumina Laboratory Services, Illumina 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
3billion 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Bicknell laboratory, University of Otago 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Dave Chen Lab, Washington University School of Medicine 1 0 0 0 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 1 0 0 0 0 0 1

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