ClinVar Miner

Variants in gene DYNC2H1

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 drug response not provided total
170 159 422 211 217 1 2 910

Condition and significance breakdown #

Total conditions: 24
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Short-rib thoracic dysplasia 3 with or without polydactyly 31 88 211 19 55 0 0 390
Jeune thoracic dystrophy 72 63 165 78 75 0 0 363
not provided 24 24 109 78 129 0 0 354
not specified 2 2 24 48 56 0 0 128
Short Rib Polydactyly Syndrome 0 1 70 8 7 0 0 86
Short-rib polydactyly syndrome type III 65 2 2 0 0 0 0 69
Intellectual disability 0 0 5 9 0 0 0 14
DYNC2H1-Related Disorders 1 0 5 0 0 0 0 6
Autosomal recessive retinitis pigmentosa 2 1 2 0 0 0 0 5
Short-rib polydactyly syndrome type I 5 0 0 0 0 0 0 5
See cases 1 0 1 1 1 0 0 4
Inborn genetic diseases 0 0 3 0 0 0 0 3
Short rib-polydactyly syndrome, Majewski type 2 3 1 0 0 0 0 3
DYNC2H1-Related Disorder 0 0 0 0 0 0 2 2
Heart, malformation of; Short ribs; Deformed rib cage; Short long bone; Abnormality of the lung 0 1 1 0 0 0 0 2
Narrow chest; Intrauterine growth retardation; Bowing of the long bones 2 0 0 0 0 0 0 2
Autosomal recessive polycystic kidney disease 1 0 0 0 0 0 0 1
Clinodactyly of the 5th finger; Anomalous origin of coronary artery from the pulmonary artery; Cough 0 0 1 0 0 0 0 1
Hirschsprung disease 1 0 0 1 0 0 0 0 1
Micrognathia; Short ribs; Narrow chest; Short long bone; Clinodactyly 0 0 1 0 0 0 0 1
Platinum compounds response - Toxicity/ADR 0 0 0 0 0 1 0 1
Skeletal dysplasia 0 1 0 0 0 0 0 1
Type IV short rib polydactyly syndrome 1 1 0 0 0 0 0 1
etoposide response - Toxicity/ADR 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 47
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Invitae 15 6 88 123 79 0 0 311
Illumina Clinical Services Laboratory,Illumina 1 0 216 30 48 0 0 259
GeneDx 3 15 21 43 174 0 0 256
University of Washington Center for Mendelian Genomics, University of Washington 0 123 0 0 0 0 0 123
Dan Cohn Lab,University Of California Los Angeles 113 3 4 0 0 0 0 119
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 4 49 18 36 0 0 110
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 9 1 67 11 14 0 0 102
Rare Disease Group, Clinical Genetics,Karolinska Institutet 8 5 10 0 0 0 0 22
OMIM 20 0 0 0 0 0 0 20
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 16 0 0 17
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 5 9 0 0 0 14
Baylor Genetics 3 0 9 0 0 0 0 12
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 6 6 0 0 0 0 0 12
Human Genetics - Radboudumc,Radboudumc 5 1 3 0 0 0 0 9
Genetic Services Laboratory, University of Chicago 0 0 5 3 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 2 1 0 0 0 7
Gharavi Laboratory,Columbia University 0 0 7 0 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 1 2 0 0 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 6 0 0 0 0 6
Mendelics 1 0 1 0 3 0 0 5
Heon Lab,The Hospital for Sick Children 2 1 2 0 0 0 0 5
Lineagen, Inc 4 0 1 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 1 1 0 0 0 4
Ambry Genetics 0 0 3 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 1 2 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 0 2 0 0 0 0 0 2
ISCA site 1 0 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 0 1 1 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
ISCA site 6 0 0 0 0 1 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 1 0 0 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.