| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CYP7A1, LOC126860400 (P398A) | Single nucleotide variant (missense variant) | CYP7A1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | CYP7A1-related disorder | |
| | CYP7A1, LOC126860400 (R364W) | Single nucleotide variant (missense variant) | CYP7A1-related disorder | |
Click to view in NCBI Gene