| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (synonymous variant) | Alagille syndrome due to a JAG1 point mutation +6 more | |
| | | Deletion (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (intron variant) | Deafness, congenital heart defects, and posterior embryotoxon +5 more | |
Click to view in NCBI Gene