| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | SMPD1, LOC130005193 (Q19R) | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +3 more | GConflicting classifications of pathogenicity |
| | LOC130005193, SMPD1 (G20R) | Single nucleotide variant (missense variant +2 more) | SMPD1-related disorder +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | LOC130005193, SMPD1 (P28L) | Single nucleotide variant (missense variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
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