ClinVar Miner

List of variants studied for aortic disease by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Included ClinVar conditions (33):

AORTIC VALVE DISEASE 3
Aortic aneurysm
Aortic valve disease 2
Aortic valve disorder
Aortic valve disorder; Adams-Oliver syndrome 5
Aortic valve disorder; Thoracic aortic aneurysm and aortic dissection
Bicuspid aortic valve
Coarctation of aorta; Atrial septal defect; Abnormality of cardiovascular system morphology; Transposition of the great arteries; Hypertonia; Hemiparesis; Cerebral ischemia; Lower limb muscle weakness; Double inlet left ventricle; Hypoplastic aortic arch; Muscular hypotonia; Patent ductus arteriosus
Coarctation of aorta; Tall stature; Specific learning disability
Cryptorchidism; Triphalangeal thumb; Inguinal hernia; Feeding difficulties; Hemivertebrae; Constipation; Oligohydramnios; Hydroureter; Abnormal facial shape; Hypospadias, penile; Strabismus; Intellectual disability; Generalized hypotonia; Mitral stenosis; Fetal pyelectasis; Patent ductus arteriosus after premature birth; Perimembranous ventricular septal defect; Neurodevelopmental delay; Bicuspid aortic valve
Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis
Dental crowding; Arachnodactyly; Dolichocephaly; Joint hypermobility; Aortic regurgitation; High, narrow palate
Dilatation of ascending aorta; Bicuspid aortic valve
Dilatation of ascending aorta; Scoliosis; Tall stature; Joint hypermobility; Severe Myopia; Aortic aneurysm
Ebstein anomaly of the tricuspid valve
Ebstein anomaly of the tricuspid valve; Abnormal heart morphology; Abnormal facial shape; Congenital diaphragmatic hernia; Ventriculomegaly; Stillbirth; Common atrium
Ebstein anomaly of the tricuspid valve; Growth hormone deficiency; Intellectual disability, mild
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; Abnormality of the nail; Mitral regurgitation; Aortic regurgitation; Capillary hemangiomas; 2-3 toe cutaneous syndactyly; Muscular hypotonia; Patent ductus arteriosus
Epicanthus; Ebstein anomaly of the tricuspid valve; Congenital ectopic pupil; Atrial septal defect; Motor delay; Visual impairment; Long palpebral fissure; Secundum atrial septal defect; Mandibular prognathia; Broad forehead; Cyanosis; Premature birth; Shawl scrotum; Short neck; Short nose; Anterior synechiae; 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
Epicanthus; Hypertelorism; Coarctation of aorta; Global developmental delay; Inguinal hernia; Bilateral cryptorchidism; Downslanted palpebral fissures; Short neck; Thin vermilion border; Wide intermamillary distance; Wide nose; Hypospadias, penile; Low-set, posteriorly rotated ears; Thickened helices; Strabismus; Abnormal number of hair whorls; Bicuspid aortic valve; Smooth philtrum
Familial abdominal aortic aneurysm 1
Hereditary palmoplantar keratoderma; Bicuspid aortic valve
Hypoplastic left heart syndrome 1; Aortic valve atresia; Mitral atresia
Loeys-Dietz syndrome; Dilatation of the thoracic aorta; Thoracic aortic dissection
Midaortic syndrome
Migraine; Secundum atrial septal defect; Rectal prolapse; Stress urinary incontinence; Bicuspid aortic valve
Narrow palate; Abnormal vena cava morphology; Aortic tortuosity; Bicuspid aortic valve
Pulmonic stenosis; Supravalvar aortic stenosis
Subvalvular aortic stenosis
Sudden cardiac death; Arrhythmia; Ventricular fibrillation; Aortic dilatation; Bicuspid aortic valve
Supravalvar aortic stenosis
Tongue tie; Coarctation of aorta; Atrial septal defect; Heart block; Clinodactyly of the 5th finger; Generalized hypotonia; Delayed gross motor development; Bronchomalacia; Sagittal craniosynostosis; Bilateral single transverse palmar creases; Bicoronal synostosis; Ventricular septal defect

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Total variants: 3

Download table as spreadsheet

HGVS	dbSNP
NM_001135599.3(TGFB2):c.440C>T (p.Pro147Leu)	rs149533093
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met)	rs552818350
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe)	rs763521707

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