ClinVar Miner

List of variants reported as pathogenic for atrial septal defect 1

Included ClinVar conditions (8):

Atrial septal defect 1
Atrial septal defect, ostium secundum type; Mitral regurgitation; Ventricular septal defect
Epicanthus; Ebstein anomaly; Congenital ectopic pupil; Atrial septal defect; Motor delay; Visual impairment; Long palpebral fissure; Atrial septal defect, ostium secundum type; Mandibular prognathia; Broad forehead; Cyanosis; Premature birth; Shawl scrotum; Short neck; Short nose; Anterior synechiae of the anterior chamber; Square face; Long philtrum; Sclerocornea; Pulmonary artery stenosis; Respiratory failure requiring assisted ventilation; Corneal opacity; Prominent forehead; Mild global developmental delay; Generalized opacification of the cornea; Chin with horizontal crease; Wide nasal base
Failure to thrive; Atrial septal defect, ostium secundum type; Tricuspid regurgitation; Right ventricular hypertrophy; Dysplastic pulmonary valve; Patent ductus arteriosus
Global developmental delay; Expressive language delay; Short stature; Enuresis; Feeding difficulties; Constipation; Receptive language delay; Tapered finger; Atrial septal defect, ostium secundum type; Clinodactyly of the 5th finger; Specific learning disability; Facial asymmetry; Increased red blood cell mass; Poor suck; Delayed skeletal maturation; Proportionate shortening of all digits; Abnormal facial skeleton morphology; Tics; Attention deficit hyperactivity disorder
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
Migraine; Atrial septal defect, ostium secundum type; Rectal prolapse; Stress urinary incontinence; Bicuspid aortic valve
Seizure; Hemivertebrae; Polycystic kidney disease; Atrial septal defect, ostium secundum type; Missing ribs; Dry skin; Abnormal nail morphology; Abnormal cortical gyration; Hyperechogenic kidneys; Periventricular heterotopia; Plantar crease between first and second toes; Overlapping fingers

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001200.4(BMP2):c.1052C>G (p.Ser351Cys)
NM_001349338.3(FOXP1):c.1778C>A (p.Pro593His)	rs2034683194
NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	rs121918460
NM_003238.6(TGFB2):c.1012C>A (p.Pro338Thr)	rs2102630084
NM_181486.4(TBX5):c.1221C>G (p.Tyr407Ter)	rs1555223259
NM_181486.4(TBX5):c.444G>A (p.Trp148Ter)	rs1555226315

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