| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +2 more | |
| | | Single nucleotide variant (missense variant) | Sphingomyelin/cholesterol lipidosis +4 more | |
| | | Single nucleotide variant (missense variant) | Cataplexy +9 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Niemann-Pick disease, type C1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +2 more | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +2 more | GConflicting classifications of pathogenicity |