| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant +2 more) | Niemann-Pick disease, type A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A | |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type A | |
| | | Duplication (frameshift variant +2 more) | Niemann-Pick disease, type A | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type B | |
| | | Single nucleotide variant (missense variant +2 more) | Sphingomyelin/cholesterol lipidosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type C1 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Sphingomyelin/cholesterol lipidosis +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +4 more | GConflicting classifications of pathogenicity |
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