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 total
159 44 290 179 212 1 757

Condition and significance breakdown #

Total conditions: 19
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response total
not provided 18 17 105 119 201 0 431
Jeune thoracic dystrophy 70 10 174 24 14 0 285
Short Rib Polydactyly Syndrome 0 1 125 23 13 0 162
not specified 2 2 25 49 57 0 130
Short-rib polydactyly syndrome type III 65 2 2 0 0 0 69
Short-rib thoracic dysplasia 3 with or without polydactyly 24 16 5 0 3 0 48
DYNC2H1-Related Disorders 1 0 5 0 0 0 6
Short-rib polydactyly syndrome type I 5 0 0 0 0 0 5
See cases 1 0 1 1 1 0 4
Inborn genetic diseases 0 0 3 0 0 0 3
Short rib-polydactyly syndrome, Majewski type 2 0 1 0 0 0 3
Narrow chest; Intrauterine growth retardation; Bowing of the long bones 2 0 0 0 0 0 2
Clinodactyly of the 5th finger; Anomalous origin of coronary artery from the pulmonary artery; Cough 0 0 1 0 0 0 1
Hirschsprung disease 1 0 0 1 0 0 0 1
Micrognathia; Short ribs; Narrow chest; Short long bone; Clinodactyly 0 0 1 0 0 0 1
Platinum compounds response - Toxicity/ADR 0 0 0 0 0 1 1
Skeletal dysplasia 0 1 0 0 0 0 1
Type IV short rib polydactyly syndrome 1 0 0 0 0 0 1
etoposide response - Toxicity/ADR 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response total
GeneDx 3 15 21 43 174 0 256
Invitae 13 5 46 108 79 0 251
Illumina Clinical Services Laboratory,Illumina 1 0 130 23 13 0 166
Dan Cohn Lab,University Of California Los Angeles 113 3 4 0 0 0 119
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 1 67 11 14 0 102
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 3 37 10 24 0 77
Rare Disease Group, Clinical Genetics,Karolinska Institutet 8 5 10 0 0 0 22
OMIM 20 0 0 0 0 0 20
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 16 0 17
Genetic Services Laboratory, University of Chicago 0 0 5 3 0 0 8
Gharavi Laboratory,Columbia University 0 0 7 0 0 0 7
Mendelics 1 0 1 0 3 0 5
University of Washington Center for Mendelian Genomics,University of Washington 0 5 0 0 0 0 5
Lineagen, Inc 4 0 1 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 1 1 0 0 4
Ambry Genetics 0 0 3 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 1 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 0 2 0 0 0 0 2
ISCA site 1 0 0 1 1 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
PharmGKB 0 0 0 0 0 1 1
ISCA site 6 0 0 0 0 1 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 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.