| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Sphingomyelin/cholesterol lipidosis | |
| | | Single nucleotide variant | Niemann-Pick disease, type A +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Niemann-Pick disease, type A +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sphingomyelin/cholesterol lipidosis +4 more | GPathogenic/Likely pathogenic |
| | APBB1, SMPD1 (R498L +4 more) | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A | |
| | APBB1, SMPD1 (R610del +3 more) | Microsatellite (inframe_deletion +2 more) | not specified +3 more | |
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