| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | AKR1D1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | AKR1D1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | AKR1D1-related disorder | |
| | | Single nucleotide variant (missense variant) | AKR1D1-related disorder +1 more | |
| | | Duplication (intron variant) | AKR1D1-related disorder | |
| | | Deletion (intron variant) | AKR1D1-related disorder | |
| | | Deletion (intron variant) | AKR1D1-related disorder | |
| | | Single nucleotide variant (intron variant) | AKR1D1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | AKR1D1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital bile acid synthesis defect 2 +2 more | |
| | | Indel (splice donor variant +1 more) | AKR1D1-related disorder | |
| | | Single nucleotide variant (intron variant) | AKR1D1-related disorder | |
| | | Single nucleotide variant (splice acceptor variant) | AKR1D1-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital bile acid synthesis defect 2 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | AKR1D1-related disorder | |
| | | Single nucleotide variant (intron variant) | AKR1D1-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital bile acid synthesis defect 2 +2 more | |