ClinVar Miner

List of variants in gene JAG1 reported as likely pathogenic for conotruncal heart malformations

Included ClinVar conditions (20):

Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH
Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4
Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4; Testicular anomalies with or without congenital heart disease
Atrial septal defect 7; Conotruncal heart malformations; Hypothyroidism, congenital, nongoitrous, 5; Tetralogy of Fallot; Ventricular septal defect 3; Hypoplastic left heart syndrome 2
Atrial septal defect 7; Conotruncal heart malformations; Tetralogy of Fallot; Ventricular septal defect 3; Hypoplastic left heart syndrome 2
Conotruncal anomaly face syndrome
Conotruncal heart malformations
Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9
Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot
Diaphragmatic hernia 3; Tetralogy of Fallot; 46,XY sex reversal 9
Double outlet right ventricle
Familial atrioventricular septal defect; Pulmonary atresia with ventricular septal defect; Visceral heterotaxy; Single Ventricle Defect
Hypertelorism; Tetralogy of Fallot; Short stature; Hypothyroidism; Constipation; Gingival overgrowth; Joint hypermobility; Thick vermilion border
Isolated agenesis of gallbladder; Double outlet right ventricle; Bilateral cleft palate; Ventricular septal defect
Obesity; Tetralogy of Fallot; Short stature; Abnormal cardiovascular system morphology; Abnormal facial shape; Intellectual disability
Persistent truncus arteriosus
Tetralogy of Fallot
Tetralogy of Fallot; Microcephaly; Cleft palate
Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.2113+1G>A	rs1294950721	0.00001
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu)	rs769531968	0.00001
NM_000214.3(JAG1):c.138dup (p.Gly47fs)
NM_000214.3(JAG1):c.2172_2173dup (p.Asp725fs)	rs1568794128
NM_000214.3(JAG1):c.2999dup (p.Ala1001fs)
NM_000214.3(JAG1):c.311del (p.Gly104fs)	rs886041782

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