ClinVar Miner

List of variants in gene ROBO4 studied for aortic valve disease

Included ClinVar conditions (34):

AORTIC VALVE DISEASE 3
Aortic valve disease 2
Aortic valve disorder
Aortic valve disorder; Adams-Oliver syndrome 5
Aortic valve disorder; Familial thoracic aortic aneurysm and aortic dissection
Astigmatism; Endometrial carcinoma; Hashimoto thyroiditis; Varicose veins; Myopia (disease); Strabismus; Mitral regurgitation; Aortic regurgitation; Dilatation of the ascending aorta; Stroke
Bicuspid aortic valve
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; Aortic regurgitation; Aortic aneurysm
Dilatation of ascending aorta; Bicuspid aortic valve
Dilatation of ascending aorta; Tall stature; Aortic regurgitation; Abnormal morphology of the left ventricle; Dilatation of the thoracic aorta
Dilatation of the thoracic aorta; Bicuspid aortic valve; Abnormal ascending aorta morphology
Downslanted palpebral fissures; Myopia (disease); Pectus carinatum; Striae distensae; Aortic regurgitation; Aortic dilatation
Ebstein anomaly of the tricuspid valve; Psychosis; Intellectual disability, mild; Hypercholesterolemia; Renal malrotation; Extraadrenal pheochromocytoma; Subvalvular aortic stenosis; Hypertensive disorder
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; 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
Hereditary palmoplantar keratoderma; Bicuspid aortic valve
Hypertelorism; Coarctation of aorta; Tetralogy of Fallot; Congenital ocular coloboma; Anterior segment anomalies; Cerebellar ataxia; Atrial septal defect; Cardiomyopathy; Dystonia; Cleft upper lip; Global developmental delay; Seizures; Visual impairment; Hypotelorism; Cataract (disease); Tall stature; Spasticity; Nystagmus; Microphthalmia; Deeply set eye; Complete atrioventricular canal defect; Delayed speech and language development; Myopia (disease); Specific learning disability; Arrhythmia; Abnormal retinal morphology; Abnormality of the cornea; Strabismus; Abnormality of the optic nerve; Hyperpigmentation of the skin; Hypopigmentation of the skin; Striae distensae; Generalized hypotonia; Craniosynostosis; Mitral valve prolapse; Mitral regurgitation; Aortic regurgitation; Tricuspid valve prolapse; Aortic dilatation; Chorea; Delayed gross motor development; Elbow flexion contracture; Abnormality of connective tissue; Pulmonary artery dilatation; Mitral annular calcification; Capillary hemangiomas; Medial rotation of the medial malleolus; Ulnar deviation of finger; Crumpled ear; Patellar subluxation; Delayed fine motor development; Vascular skin abnormality; Camptodactyly of finger; Ventricular septal defect; Cleft palate; Ectopia lentis
Hypertrophic cardiomyopathy; Subvalvular aortic stenosis
Hypoplastic left heart syndrome 1; Aortic valve atresia (disease); Mitral atresia disorder
Migraine; Secundum atrial septal defect; Rectal prolapse; Stress urinary incontinence; Bicuspid aortic valve
Narrow palate; Abnormal vena cava morphology; Aortic tortuosity; Bicuspid aortic valve
Narrow palate; Hyperextensible skin; Poor wound healing; Joint hypermobility; Abnormal vena cava morphology; Aortic tortuosity; Bicuspid aortic valve
Pectus excavatum; Tall stature; Arachnodactyly; Aortic regurgitation; Aortic root dilatation; Thoracic scoliosis
Polyhydramnios; Aortic valve atresia (disease); Left ventricular hypertrophy; Congenital mitral stenosis (disease); Hypoplastic aortic arch; Hypoplastic left heart syndrome
Pulmonic stenosis (disease); Supravalvar aortic stenosis
Scoliosis; Myopia (disease); Mitral valve prolapse; Mitral regurgitation; Aortic regurgitation; Aortic aneurysm
Seizures; Aortic valve stenosis; Bicuspid aortic valve
Subvalvular aortic stenosis
Sudden cardiac death; Arrhythmia; Ventricular fibrillation; Aortic dilatation; Bicuspid aortic valve
Supravalvar aortic stenosis

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP
NM_019055.6(ROBO4):c.1233T>A (p.His411Gln)	rs1565326476
NM_019055.6(ROBO4):c.1529A>T (p.Asp510Val)	rs1565325937
NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs)	rs755569942
NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter)	rs201492213
NM_019055.6(ROBO4):c.1864G>C (p.Asp622His)	rs138111911
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys)	rs201393279
NM_019055.6(ROBO4):c.2056+1G>T	rs764038221
NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu)	rs1565322176
NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr)	rs138370967
NM_019055.6(ROBO4):c.695C>T (p.Thr232Met)	rs150700978
NM_019055.6(ROBO4):c.740T>C (p.Val247Ala)	rs779392207
NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser)	rs755747435

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