ClinVar Miner

Variants in gene DPYD

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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 other not provided total
19 63 133 22 31 9 1 66 276

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Dihydropyrimidine dehydrogenase deficiency 14 59 106 11 11 0 0 1 184
not provided 5 4 26 10 18 0 0 65 115
not specified 0 0 2 4 11 0 0 0 16
See cases 0 0 4 0 1 0 0 0 5
fluorouracil response - Other 0 0 0 0 0 4 0 0 4
Fluorouracil response 2 0 0 0 0 0 1 0 3
Inborn genetic diseases 0 0 3 0 0 0 0 0 3
fluorouracil response - Toxicity/ADR 0 0 0 0 0 3 0 0 3
Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK 0 0 0 0 0 2 0 0 2
capecitabine response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
capecitabine response - Toxicity/ADR, Metabolism/PK 0 0 0 0 0 2 0 0 2
fluorouracil response - Toxicity/ADR, Metabolism/PK 0 0 0 0 0 2 0 0 2
tegafur response - Toxicity/ADR, Metabolism/PK 0 0 0 0 0 2 0 0 2
Autistic disorder of childhood onset; Macroglossia; Global developmental delay; Seizures; Hallux valgus; Cognitive impairment; Aggressive behavior; Coarse facial features; Mandibular prognathia; 2-3 toe syndactyly; Bulbous nose; Frontal bossing; Thick lower lip vermilion; Widely spaced teeth; Intellectual disability; Short toe; Clinodactyly of the 5th toe; Intellectual disability, profound; Abnormal aggressive, impulsive or violent behavior; Slit-like opening of the exterior auditory meatus; Shortening of all phalanges of fingers; Profound global developmental delay 1 0 0 0 0 0 0 0 1
Epileptic encephalopathy, early infantile, 42 0 0 1 0 0 0 0 0 1
Hirschsprung disease 1 0 0 1 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 0 0 1
Pyrimidine analogues response - Toxicity/ADR 0 0 0 0 0 1 0 0 1
Squamous cell carcinoma of the head and neck 0 1 0 0 0 0 0 0 1
tegafur response - Toxicity/ADR 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 85 6 8 0 0 0 100
Counsyl 1 53 20 5 0 0 0 0 79
Diasio Lab, Mayo Clinic 0 0 0 0 0 0 0 65 65
Athena Diagnostics Inc 1 0 7 2 11 0 0 0 21
Integrated Genetics/Laboratory Corporation of America 3 9 2 3 2 0 0 0 19
Invitae 0 0 0 6 8 0 0 0 14
GeneDx 2 4 4 2 0 0 0 0 12
Baylor Genetics 4 5 2 0 0 0 0 0 11
PreventionGenetics, PreventionGenetics 0 0 0 1 9 0 0 0 10
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 3 0 5 0 0 0 10
PharmGKB 0 0 0 0 0 9 0 0 9
OMIM 6 0 0 0 0 0 0 0 6
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 6 0 0 0 6
Fulgent Genetics,Fulgent Genetics 3 1 2 0 0 0 0 0 6
Lineagen, Inc 1 0 4 0 0 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 5 0 0 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 2 0 0 0 0 0 4
Ambry Genetics 0 0 3 0 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 2 0 0 0 3
Mendelics 0 0 0 1 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 2 0 0 0 0 0 2
ISCA site 1 0 0 1 0 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 0 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 0 1
ISCA site 14 0 0 1 0 0 0 0 0 1
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 1 0 0 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 0 0 1

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