ClinVar Miner

Variants studied for Houge-Janssens syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
48 60 67 6 1 10 155

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PPP2R5D 19 19 30 2 0 6 58
PPP2R1A 10 17 23 3 0 3 44
PPP2CA 11 17 10 0 1 0 34
PPP2R5C 5 4 3 1 0 0 13
MEA1, PPP2R5D 1 1 1 0 0 1 2
ACSL6, ADAMTS19, AFF4, C5orf15, CCNI2, CDC42SE2, CDKL3, CDKN2AIPNL, CHSY3, CSF2, FBN2, FNIP1, FSTL4, GDF9, HINT1, HSPA4, IL13, IL3, IL4, IL5, IRF1, ISOC1, JADE2, KIF3A, LEAP2, LYRM7, MINAR2, P4HA2, PDLIM4, PPP2CA, RAD50, RAPGEF6, SAR1B, SEC24A, SEPTIN8, SHROOM1, SKP1, SLC22A4, SLC22A5, SLC27A6, SOWAHA, TCF7, UBE2B, UQCRQ, VDAC1, ZCCHC10 1 0 0 0 0 0 1
MIR3661, PPP2CA 0 1 0 0 0 0 1
SHOC2 1 0 0 0 0 0 1
TAPBPL, VAMP1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 19 0 0 0 0 0 19
3billion 6 9 3 0 0 0 18
Center for Molecular Medicine, Children’s Hospital of Fudan University 9 2 6 0 0 0 17
Baylor Genetics 1 4 9 0 0 0 14
GenomeConnect - Simons Searchlight 7 5 1 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 4 1 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 4 6 2 0 0 0 12
Revvity Omics, Revvity 2 0 10 0 0 0 12
SIB Swiss Institute of Bioinformatics 1 10 1 0 0 0 12
Institute of Human Genetics Munich, TUM University Hospital 7 2 0 0 0 0 9
GeneReviews 0 0 0 0 0 7 7
Mendelics 2 1 1 3 0 0 7
New York Genome Center 1 0 6 0 0 0 7
Daryl Scott Lab, Baylor College of Medicine 4 0 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 1 1 1 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 3
Illumina Laboratory Services, Illumina 1 1 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Pediatric Genetics Clinic, Sheba Medical Center 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Center of Human Genetics, Hôpital Erasme 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
Genome-Nilou Lab 0 1 0 0 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1

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