| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cholestanol storage disease +2 more | |
| | | Single nucleotide variant (missense variant) | Cholestanol storage disease +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CYP27A1-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Deletion (frameshift variant) | CYP27A1-related condition +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cholestanol storage disease +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cholestanol storage disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Cholestanol storage disease +2 more | |
| | | Single nucleotide variant (missense variant) | Cholestanol storage disease | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | Cholestanol storage disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CYP27A1-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Cholestanol storage disease +1 more | |