| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Sphingomyelin/cholesterol lipidosis +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Sphingomyelin/cholesterol lipidosis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Sphingomyelin/cholesterol lipidosis +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +6 more | |
| | | Deletion (frameshift variant +1 more) | Niemann-Pick disease, type A +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sphingomyelin/cholesterol lipidosis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Sphingomyelin/cholesterol lipidosis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type B +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +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) | SMPD1-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type A +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +3 more | GPathogenic/Likely pathogenic |
| | APBB1, SMPD1 (R610del +3 more) | Microsatellite (inframe_deletion +2 more) | Niemann-Pick disease, type B +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +2 more | GConflicting classifications of pathogenicity |