ClinVar Miner

List of variants in gene JAG1 reported as 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.1395+3A>G	rs886044220
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer)	rs1568796236
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs)	rs876660981
NM_000214.3(JAG1):c.1794_1797del (p.Cys599fs)
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs)	rs886039393
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)	rs727504412
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)	rs863223655
NM_000214.3(JAG1):c.228del (p.Val77fs)	rs2067506937
NM_000214.3(JAG1):c.2472C>A (p.Cys824Ter)
NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs)	rs2067268275
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys)	rs121918350
NM_000214.3(JAG1):c.551G>A (p.Arg184His)	rs121918351
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter)	rs876660980
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp)	rs28939668

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