| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +6 more | GPathogenic/Likely pathogenic |
| | | Deletion | Intellectual disability | |
Click to view in NCBI Gene