| | | Single nucleotide variant (missense variant +2 more) | NPC2-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C +1 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | NPC1-related condition +10 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Microsatellite (frameshift variant) | Niemann-Pick disease, type C +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |