ClinVar Miner

List of variants studied for patent ductus arteriosus by Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital

Included ClinVar conditions (18):

Brachydactyly type B1; Developmental cataract; Teeth, fused; Seizure; Posteriorly rotated ears; Delayed speech and language development; Downslanted palpebral fissures; Open mouth; Strabismus; Sparse and thin eyebrow; Toe clinodactyly; Drooling; Abnormality of temperature regulation; Prominent metopic ridge; Impaired pain sensation; Generalized neonatal hypotonia; Inflammatory abnormality of the skin; Midface retrusion; Chronic constipation; Patent ductus arteriosus
Char syndrome
Char syndrome; Patent ductus arteriosus 2
Clubfoot; Skeletal dysplasia; Micrognathia; Hemivertebrae; Preaxial foot polydactyly; Respiratory failure; Short femur; Vertebral segmentation defect; Pseudoarthrosis; Chronic lung disease; Abnormal pulmonary interstitial morphology; Coat hanger sign of ribs; Vertebral hypoplasia; Absent epiphyses; Cleft palate; Patent ductus arteriosus
Coarctation of aorta; Atrial septal defect; Abnormal cardiovascular system morphology; Transposition of the great arteries; Hypertonia; Hemiparesis; Cerebral ischemia; Lower limb muscle weakness; Double inlet left ventricle; Hypoplastic aortic arch; Hypotonia; Patent ductus arteriosus
Epicanthus; Atrial septal defect; Inguinal hernia; Hydronephrosis; Hirsutism; Large earlobe; Abnormal facial shape; Short nose; Single transverse palmar crease; Synophrys; Thin vermilion border; Micropenis; Horseshoe kidney; Entropion; Reduced tendon reflexes; Umbilical hernia; Abnormal nail morphology; Mitral regurgitation; Aortic regurgitation; Capillary hemangioma; 2-3 toe cutaneous syndactyly; Hypotonia; Patent ductus arteriosus
Epicanthus; Micrognathia; Tapered finger; Coarse facial features; Abnormal facial shape; Bulbous nose; Depressed nasal bridge; Thick upper lip vermilion; Macrocephaly; Abnormality of the face; Low anterior hairline; Large hands; Joint hypermobility; Left ventricular hypertrophy; Patent ductus arteriosus
Failure to thrive; Atrial septal defect, ostium secundum type; Tricuspid regurgitation; Right ventricular hypertrophy; Dysplastic pulmonary valve; Patent ductus arteriosus
Global developmental delay; Abnormality of the face; Ventral hernia; Patent ductus arteriosus
Global developmental delay; Failure to thrive; Developmental dysplasia of the hip; Patent foramen ovale; Atrial septal defect, ostium secundum type; Polymicrogyria; Microcephaly; Microretrognathia; Cerebellar vermis hypoplasia; High anterior hairline; Abnormality of the pulmonary veins; Patent ductus arteriosus
PDA1
Patent ductus arteriosus 2
Patent ductus arteriosus 3
Patent foramen ovale; Abnormal facial shape; Patent ductus arteriosus
Patent foramen ovale; Dysplastic corpus callosum; Patent ductus arteriosus
Pulmonary arterial hypertension; Respiratory failure requiring assisted ventilation; Patent ductus arteriosus
Pulmonic stenosis; Isolated Pierre-Robin syndrome; Tapered finger; Tricuspid regurgitation; Abnormal facial shape; Overlapping toe; Ovarian cyst; Calcaneovalgus deformity; Abnormal muscle tone; Short metatarsal; Left-to-right shunt; Short palpebral fissure; Blue nevus; Cleft palate; Patent ductus arteriosus
Seizure; Abnormal facial shape; Delayed speech and language development; Gray matter heterotopia; Intellectual disability, moderate; Periventricular heterotopia; Cerebral white matter hypoplasia; Patent ductus arteriosus

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
46;XX;ins(2;9)(q24.3;p22.1p24.3)dn
46;XX;ins(5;6)(p13;p24p25)dn
46;XX;inv(7)(q21.2q34)
46;XY;inv(6)(p22q13)dn
46;XY;t(2;14)(p22;q24.3)dn

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.