NM_000214.3(JAG1):c.1713del (p.Cys572fs)Pathogenic
Alagille syndrome due to a JAG1 point mutation|JAG1-related disorder|Focal segmental glomerulosclerosis
★★☆☆2026→ Residue 572
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter)Pathogenic
not provided|Alagille syndrome due to a JAG1 point mutation|JAG1-related disorder|Alagille syndrome due to a JAG1 point mutation;Tetralogy of Fallot;Charcot-Marie-Tooth disease, axonal, Type 2HH;Deafness, congenital heart defects, and posterior embryotoxon
★★☆☆2025→ Residue 235
NM_000214.3(JAG1):c.2225_2226del (p.Ile742fs)Pathogenic
not provided|Alagille syndrome due to a JAG1 point mutation
★★☆☆2025→ Residue 742
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter)Pathogenic
not provided|Alagille syndrome due to a JAG1 point mutation
★★☆☆2025→ Residue 34
NM_000214.3(JAG1):c.1369C>T (p.Gln457Ter)Pathogenic
Cardiovascular phenotype|Alagille syndrome due to a JAG1 point mutation
★★☆☆2025→ Residue 457
NM_000214.3(JAG1):c.2743C>T (p.Gln915Ter)Pathogenic
not provided|Alagille syndrome due to a JAG1 point mutation
★★☆☆2025→ Residue 915
NM_000214.3(JAG1):c.1363del (p.Gly456fs)Pathogenic
Alagille syndrome due to a JAG1 point mutation
★★☆☆2025→ Residue 456
NM_000214.3(JAG1):c.2706C>A (p.Cys902Ter)Pathogenic
not provided|Alagille syndrome due to a JAG1 point mutation
★★☆☆2025→ Residue 902
NM_000214.3(JAG1):c.2084dup (p.Asn695fs)Pathogenic
Alagille syndrome due to a JAG1 point mutation
★★☆☆2025→ Residue 695
NM_000214.3(JAG1):c.2173dup (p.Asp725fs)Pathogenic
Alagille syndrome due to a JAG1 point mutation|not provided
★★☆☆2025→ Residue 725
NM_000214.3(JAG1):c.1395+3A>GPathogenic
not provided|Alagille syndrome due to a JAG1 point mutation|Tetralogy of Fallot
★★☆☆2025
NM_000214.3(JAG1):c.2078G>A (p.Cys693Tyr)Pathogenic
not provided|Alagille syndrome due to a JAG1 point mutation
★★☆☆2025→ Residue 693
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs)Pathogenic
Alagille syndrome due to a JAG1 point mutation|not provided|Deafness, congenital heart defects, and posterior embryotoxon;Charcot-Marie-Tooth disease, axonal, Type 2HH;Tetralogy of Fallot;Alagille syndrome due to a JAG1 point mutation
★★☆☆2025→ Residue 699
NM_000214.3(JAG1):c.439+1G>APathogenic
not provided|Atypical coarctation of aorta|Alagille syndrome due to a JAG1 point mutation|JAG1-related disorder|Alagille syndrome due to a JAG1 point mutation;Charcot-Marie-Tooth disease, axonal, Type 2HH;Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot
★★☆☆2025
NM_000214.3(JAG1):c.1205dup (p.Gln403fs)Pathogenic
Alagille syndrome due to a JAG1 point mutation|not provided
★★☆☆2025→ Residue 403
NM_000214.3(JAG1):c.1563_1564del (p.Cys522fs)Pathogenic
Alagille syndrome due to a JAG1 point mutation|Cardiovascular phenotype
★★☆☆2025→ Residue 522
NM_000214.3(JAG1):c.500G>A (p.Trp167Ter)Pathogenic
not provided|Alagille syndrome due to a JAG1 point mutation
★★☆☆2025→ Residue 167
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter)Pathogenic
Alagille syndrome due to a JAG1 point mutation|not provided|JAG1-related disorder
★★☆☆2025→ Residue 147
NM_000214.3(JAG1):c.2572+1G>TPathogenic
Alagille syndrome due to a JAG1 point mutation|not provided
★★☆☆2025
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys)Pathogenic
Alagille syndrome due to a JAG1 point mutation|not provided|JAG1-related disorder|Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot;Alagille syndrome due to a JAG1 point mutation;Charcot-Marie-Tooth disease, axonal, Type 2HH
★★☆☆2025→ Residue 184