| | LOC130065344, LOC130065345 +455 more | Copy number gain | See cases | |
| | LOC129456123, LOC130065248 +833 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Renal agenesis | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065324, LOC130065325 +581 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC613266, MACROD2 +950 more | Copy number gain | See cases | |
| | LOC126862973, LOC130065421 +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) | Isolated Nonsyndromic Congenital Heart Disease +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (3 prime UTR variant) | Arteriohepatic dysplasia +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) | not provided +1 more | |
| | | 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) | Arteriohepatic dysplasia +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 +1 more | |
| | | 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 disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated Nonsyndromic Congenital Heart Disease | |
| | | 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) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +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) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, Type 2HH +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | JAG1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | JAG1-related disorder | |
| | | 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) | Cardiovascular phenotype +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) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Isolated Nonsyndromic Congenital Heart Disease +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Alagille syndrome due to a JAG1 point mutation +5 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) | not provided | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 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 (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Isolated Nonsyndromic Congenital Heart Disease +2 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 | |