ClinVar Miner

Variants studied for Kabuki syndrome

Included ClinVar conditions (3):
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
196 153 236 134 28 2 697

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KMT2D 176 137 222 128 28 2 641
KDM6A 17 14 9 3 0 0 43
DDN, KMT2D 0 0 1 3 0 0 4
KMT2A 2 0 0 0 0 0 2
ADCY6, ARF3, CACNB3, CCDC65, CCNT1, DDN, DDX23, FKBP11, KANSL2, KMT2D, PRKAG1, RHEBL1, RND1, WNT1, WNT10B 1 0 0 0 0 0 1
CHST7, DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, KRBOX4, MAOA, MAOB, MIR221, MIR222, NDP, RP2, SLC9A7, ZNF674 0 1 0 0 0 0 1
DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, MAOA, MAOB, NDP 0 1 0 0 0 0 1
DNMT3B 0 0 1 0 0 0 1
HCFC1 0 0 1 0 0 0 1
KMT2B 0 0 1 0 0 0 1
ZBTB24 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 91 104 13 0 208
Center for Human Genetics, Inc 16 94 40 23 1 0 174
Invitae 70 16 35 5 9 0 135
Genetic Services Laboratory, University of Chicago 51 6 34 0 0 0 91
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 2 16 0 22
Mendelics 7 0 7 5 1 0 20
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 6 7 0 0 0 19
Shaikh Laboratory, University of Colorado 0 16 0 0 0 0 16
Fulgent Genetics,Fulgent Genetics 3 0 9 0 0 0 12
OMIM 10 0 0 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 10
Baylor Genetics 2 2 2 0 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 4 2 0 0 0 0 6
Institute of Human Genetics,University of Goettingen 2 2 1 0 0 0 5
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 4 1 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 1 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 1 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 0 0 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 2 0 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 0 4
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 1 0 1 0 0 4
Institute of Human Genetics,Cologne University 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1 0 2
Molecular Genetics Laboratory,London Health Sciences Centre 0 0 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute,UT Southwestern Medical Center at Dallas 0 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Bjornsson Lab,Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 1 0 0 0 0 0 1

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