ClinVar Miner

Variants in gene TRPS1

See also:
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
135 37 333 192 58 34 727

Condition and significance breakdown #

Total conditions: 16
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 89 9 181 166 36 0 478
not provided 27 10 62 8 26 0 132
Inborn genetic diseases 6 0 83 29 0 0 118
Trichorhinophalangeal dysplasia type I 25 12 8 0 3 34 75
TRPS1-related disorder 3 3 3 9 4 0 22
Trichorhinophalangeal syndrome 1 1 16 4 0 0 22
not specified 0 0 5 0 7 0 12
Trichorhinophalangeal syndrome, type III 4 2 0 0 1 1 8
Microcephaly 0 0 3 0 0 0 3
See cases 1 0 1 1 0 0 3
Langer-Giedion syndrome 2 0 0 0 0 0 2
Trichorhinophalangeal syndrome type I or III 1 0 1 0 0 0 2
Brachydactyly; Alopecia areata; Pear-shaped nose; Proportionate short stature 0 1 0 0 0 0 1
Congenital anomaly of kidney and urinary tract 0 1 0 0 0 0 1
Craniosynostosis syndrome; Short stature; Sparse and thin eyebrow; Hyperextensible skin; Abnormally high-pitched voice; Mitral valve prolapse; Sparse hair 0 1 0 0 0 0 1
Metaphyseal chondrodysplasia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 88 9 178 164 36 0 475
Ambry Genetics 6 0 83 29 0 0 118
GeneDx 16 3 36 1 19 0 75
GeneReviews 2 0 0 0 0 34 36
PreventionGenetics, part of Exact Sciences 2 3 3 9 9 0 26
CeGaT Center for Human Genetics Tuebingen 7 3 6 8 2 0 26
Illumina Laboratory Services, Illumina 1 0 16 4 0 0 21
Breakthrough Genomics, Breakthrough Genomics 0 0 5 0 13 0 18
Eurofins Ntd Llc (ga) 3 0 9 0 2 0 14
OMIM 12 0 0 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 0 5
Blueprint Genetics 0 3 2 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Revvity Omics, Revvity 1 0 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 2 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 3 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 1 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Mendelics 0 0 0 0 2 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 2 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
ISCA Site 6 1 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Clinical Genomics Unit, Sheba Medical Center 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 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.