| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (splice donor variant) | Cholestanol storage disease +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Cardiovascular phenotype +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CYP27A1-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cholestanol storage disease | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CYP27A1-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | CYP27A1-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CYP27A1-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CYP27A1-related condition +2 more | GConflicting classifications of pathogenicity |
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