ClinVar Miner

Variants studied for Developmental delay with or without intellectual impairment or behavioral abnormalities

Coded as:
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 total
15 20 21 0 0 54

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
TAOK1 15 20 20 53
ALDOC, BLTP2, CRYBA1, DHRS13, ERAL1, FAM222B, FLOT2, FOXN1, IFT20, KSR1, LGALS9, LYRM9, MIR144, MIR451A, MYO18A, NEK8, NLK, NOS2, NUFIP2, PHF12, PIGS, PIPOX, POLDIP2, PROCA1, RAB34, RPL23A, SARM1, SDF2, SEBOX, SEZ6, SLC13A2, SLC46A1, SPAG5, SUPT6H, TAOK1, TLCD1, TMEM199, TMEM97, TNFAIP1, TRAF4, UNC119, VTN, WSB1 0 0 1 1

Submitter and significance breakdown #

Total submitters: 30
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance total
Institute of Human Genetics, University of Leipzig Medical Center 3 2 3 8
3billion 1 4 2 7
OMIM 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 1 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 1 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 2 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 2
MVZ Medizinische Genetik Mainz 0 1 1 2
Institute of Human Genetics, University of Goettingen 0 0 1 1
Revvity Omics, Revvity 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 1
MGZ Medical Genetics Center 0 0 1 1
Mendelics 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.