Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Congenital bile acid synthesis defect 5 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Deletion (splice acceptor variant) | Congenital bile acid synthesis defect 5 | |
Click to view in NCBI Gene