| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DHCR7-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene