| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | DHCR7-related condition +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Global developmental delay +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Primary microcephaly +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene