ClinVar Miner

Variants studied for ZTTK syndrome

Included ClinVar conditions (1):
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
32 36 78 4 9 2 153

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SON 31 35 78 4 9 2 151
ATP5PO, C21orf62, CFAP298, CFAP298-TCP10L, CRYZL1, DNAJC28, DONSON, EVA1C, GART, IFNAR1, IFNAR2, IFNAR2-IL10RB, IFNGR2, IL10RB, IL10RB-DT, ITSN1, KCNE2, LINC00310, LINC00649, LINC00945, LINC01548, LINC01690, LOC101928107, LOC101928126, LOC105372791, LOC110121331, LOC110121350, LOC110121395, LOC110121495, LOC112694736, LOC119230225, LOC119266102, LOC120807613, LOC121853026, LOC125418060, LOC125418061, LOC125418062, LOC125418063, LOC126653342, LOC126653343, LOC126653344, LOC126653345, LOC126653346, LOC126653347, LOC126653348, LOC126653349, LOC126653350, LOC126653351, LOC126653352, LOC126653353, LOC128462413, LOC130066543, LOC130066544, LOC130066545, LOC130066546, LOC130066547, LOC130066548, LOC130066549, LOC130066550, LOC130066551, LOC130066552, LOC130066553, LOC130066554, LOC130066555, LOC130066556, LOC130066557, LOC130066558, LOC130066559, LOC130066560, LOC130066561, LOC130066562, LOC130066563, LOC130066564, LOC130066565, LOC130066566, LOC130066567, LOC130066568, LOC130066569, LOC130066570, LOC130066571, LOC130066572, LOC130066573, LOC130066574, LOC130066575, LOC130066576, LOC130066577, LOC130066578, LOC130066579, LOC130066580, LOC130066581, MIR6501, MIS18A, MRAP, MRPS6, OLIG1, OLIG2, PAXBP1, SLC5A3, SNORA80A, SON, SYNJ1, TCP10L, TMEM50B, URB1 1 0 0 0 0 0 1
MIR6501, SON 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Revvity Omics, Revvity 2 3 33 0 0 0 38
Baylor Genetics 2 0 25 0 0 0 27
University of Washington Center for Mendelian Genomics, University of Washington 0 17 0 0 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 3 1 0 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
OMIM 7 0 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 2 1 0 0 0 6
New York Genome Center 1 1 4 0 0 0 6
3billion 1 3 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 1 0 0 0 4
Mendelics 3 0 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 1 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 2
Breda Genetics srl 1 0 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 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 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 0 1

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