| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Deletion | Cholestanol storage disease | |
| | | Deletion | Cholestanol storage disease | |
| | | Single nucleotide variant (splice donor variant) | Cholestanol storage disease | |
| | | Deletion (frameshift variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (nonsense) | Cholestanol storage disease | |
| | | Single nucleotide variant (nonsense) | Cholestanol storage disease | |
| | | Deletion (frameshift variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | CYP27A1-related disorder | |
| | | Deletion (inframe deletion) | CYP27A1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Duplication (frameshift variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (missense variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Deletion (frameshift variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (missense variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (nonsense) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease +1 more | |
| | | Single nucleotide variant (missense variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Duplication (frameshift variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Deletion (frameshift variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (synonymous variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (intron variant) | Cholestanol storage disease | |