| | LOC130005193, SMPD1 (R3fs) | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +3 more | GConflicting classifications of pathogenicity |
| | LOC130005193, SMPD1 (Q10*) | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type B +1 more | GPathogenic/Likely pathogenic |
| | LOC130005193, SMPD1 (R14fs) | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type B +1 more | GPathogenic/Likely pathogenic |
| | LOC130005193, SMPD1 (Q21*) | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type B +1 more | GPathogenic/Likely pathogenic |
| | LOC130005193, SMPD1 (G29fs) | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type B +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type B +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type A +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Deletion (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 B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type B +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Niemann-Pick disease, type A +1 more | |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type B +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Sphingomyelin/cholesterol lipidosis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Duplication (frameshift variant +2 more) | Niemann-Pick disease, type A +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 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 | |
| | | Deletion (frameshift variant +2 more) | Sphingomyelin/cholesterol lipidosis +3 more | |
| | | Duplication (frameshift variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (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 B +2 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 +2 more) | Niemann-Pick disease, type A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +4 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) | Niemann-Pick disease, type A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type A +1 more | |
| | | 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 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Sphingomyelin/cholesterol lipidosis +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type A +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Duplication (frameshift variant +2 more) | Niemann-Pick disease, type B +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +5 more | |
| | | Single nucleotide variant | Niemann-Pick disease, type A +3 more | GPathogenic/Likely pathogenic |
| | | 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 +1 more | GConflicting classifications of pathogenicity |
| | | 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) | Niemann-Pick disease, type A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Niemann-Pick disease, type A +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +2 more) | Niemann-Pick disease, type B +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Deletion (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 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant +2 more) | Niemann-Pick disease, type A +2 more | GPathogenic/Likely pathogenic |
| | | 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 (nonsense +2 more) | Niemann-Pick disease, type C1 +2 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Niemann-Pick disease, type A +2 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 +3 more | GPathogenic/Likely pathogenic |
| | | 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) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Sphingomyelin/cholesterol lipidosis +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (splice donor variant) | Niemann-Pick disease, type A +1 more | |
| | | Deletion (intron variant) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Niemann-Pick disease, type A +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift 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 |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Abnormality of metabolism/homeostasis +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 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type A +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type A +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Sphingomyelin/cholesterol lipidosis +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +2 more) | Niemann-Pick disease, type A +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 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 | GPathogenic/Likely pathogenic |
| | APBB1, SMPD1 (R610del +3 more) | Microsatellite (inframe_deletion +2 more) | not specified +3 more | |