ClinVar Miner

List of variants in gene ROBO4 studied for aortic valve disease

Included ClinVar conditions (20):

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
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
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
Hypoplastic left heart syndrome 1; Aortic valve atresia; Mitral atresia
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

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

Total variants: 12

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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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