| | | Translocation | Alagille syndrome due to a JAG1 point mutation | |
| | | Copy number gain | See cases | |
| | LOC111365169, LOC111365189 +833 more | Copy number gain | See cases | |
| | MIR6869, MIR6870 +828 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Renal agenesis | |
| | LOC130065416, LOC130065417 +579 more | Copy number gain | See cases | |
| | LOC126862999, LOC126863005 +814 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065566, LOC130065567 +2522 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130065426, LOC130065427 +87 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130065574, LOC130065575 +950 more | Copy number gain | See cases | |
| | LOC130065419, SNAP25 +23 more | Deletion | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Deletion (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease +1 more | |
| | | Deletion (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Deletion (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Deletion (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Microsatellite (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Duplication (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Microsatellite (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Deletion (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Deletion (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | JAG1-related condition | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | JAG1-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Tetralogy of Fallot +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Alagille syndrome due to a JAG1 point mutation +4 more | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (synonymous variant) | Alagille syndrome due to a JAG1 point mutation +1 more | |
| | | Single nucleotide variant (missense variant) | JAG1-related condition | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (synonymous variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (synonymous variant) | Isolated Nonsyndromic Congenital Heart Disease +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Deafness, congenital heart defects, and posterior embryotoxon +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (synonymous variant) | Isolated Nonsyndromic Congenital Heart Disease +3 more | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |