| | | 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 |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +2 more) | not specified +2 more | |
| | | Deletion (inframe_deletion +2 more) | Niemann-Pick disease, type B +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
| | | Microsatellite (inframe_deletion +2 more) | Niemann-Pick disease, type B +3 more | |
| | | Microsatellite (inframe_deletion +2 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +2 more | |
| | | Deletion (frameshift variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | 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 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type B +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +3 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 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +3 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type A +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | Sphingomyelin/cholesterol lipidosis +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Duplication (inframe_insertion +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified +4 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 A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Sphingomyelin/cholesterol lipidosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Sphingomyelin/cholesterol lipidosis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type A +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Duplication (frameshift variant +2 more) | Niemann-Pick disease, type B +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified +4 more | |
| | | Single nucleotide variant | Niemann-Pick disease, type A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +2 more | GConflicting classifications of pathogenicity |
| | | Insertion (inframe_indel +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Niemann-Pick disease, type A +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Sphingomyelin/cholesterol lipidosis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sphingomyelin/cholesterol lipidosis +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 acceptor variant +1 more) | Niemann-Pick disease, type A +2 more | GPathogenic/Likely pathogenic |
| | | 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 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | |