ClinVar Miner

Variants in gene DYNC2H1

Minimum submission review status: Collection method:
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Gene type:
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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
152 39 271 80 65 1 522

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Jeune thoracic dystrophy 68 8 164 36 51 0 296
Short Rib Polydactyly Syndrome 0 0 125 23 13 0 161
not provided 14 17 103 5 9 0 145
not specified 0 2 15 47 53 0 115
Short-rib polydactyly syndrome type III 65 2 2 0 0 0 69
Short-rib thoracic dysplasia 3 with or without polydactyly 23 12 3 0 0 0 38
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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Illumina Clinical Services Laboratory,Illumina 1 0 130 23 13 0 166
GeneDx 3 15 21 35 51 0 125
Dan Cohn Lab,University Of California Los Angeles 113 3 4 0 0 0 119
Invitae 12 4 36 13 38 0 103
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 1 67 11 14 0 102
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 3 28 8 10 0 50
Rare Disease Group, Clinical Genetics,Karolinska Institutet 7 4 10 0 0 0 21
OMIM 20 0 0 0 0 0 20
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 16 0 16
Genetic Services Laboratory, University of Chicago 0 0 5 3 0 0 8
Gharavi Laboratory,Columbia University 0 0 7 0 0 0 7
University of Washington Center for Mendelian Genomics,University of Washington 0 5 0 0 0 0 5
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,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 Miraca Genetics Laboratories, 1 0 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 0 0 0 2
Fulgent Genetics 0 0 2 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
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

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