| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | 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) | Niemann-Pick disease, type C +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cataplexy +9 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | |
| | | Single nucleotide variant (no sequence alteration) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
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