| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | |
| | | Deletion (inframe_deletion) | Niemann-Pick disease, type C | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C | |
| | | Single nucleotide variant (splice donor variant) | Niemann-Pick disease, type C | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C | |
| | | Duplication (frameshift variant) | Niemann-Pick disease, type C1 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C +1 more | |
| | | Single nucleotide variant (nonsense) | Niemann-Pick disease, type C +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Niemann-Pick disease, type C1 +1 more | GPathogenic/Likely pathogenic |
| | | Duplication | Niemann-Pick disease, type C | |
| | | Duplication (frameshift variant) | Niemann-Pick disease, type C | |
| | | Duplication (nonsense) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +2 more | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Niemann-Pick disease, type C +2 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant +1 more) | Niemann-Pick disease, type C | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Niemann-Pick disease, type C1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +2 more | GPathogenic/Likely pathogenic |
| | | 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 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Niemann-Pick disease, type C1 +2 more | |
| | | Single nucleotide variant (nonsense) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Niemann-Pick disease, type C1 +2 more | |
| | | Duplication (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C +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 C +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Niemann-Pick disease, type C +1 more | |
| | | Single nucleotide variant | Niemann-Pick disease, type C | |
| | | Single nucleotide variant | Niemann-Pick disease, type C +2 more | |
| | | Single nucleotide variant | Niemann-Pick disease, type C +1 more | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C1 +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (intron variant) | Niemann-Pick disease, type C1 +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | Niemann-Pick disease, type C1 +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (intron variant) | Niemann-Pick disease, type C1 +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (intron variant) | Niemann-Pick disease, type C1 +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Niemann-Pick disease, type C1 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Niemann-Pick disease, type C | |
| | | Duplication (3 prime UTR variant) | Niemann-Pick disease, type C | |
| | | Single nucleotide variant (5 prime UTR variant) | Niemann-Pick disease, type C | |
| | | Single nucleotide variant (5 prime UTR variant) | Niemann-Pick disease, type C | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | NPC1-related disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | NPC1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | NPC1-related disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Niemann-Pick disease, type C1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Abnormality of metabolism/homeostasis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +2 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +1 more | |
| | | Single nucleotide variant (nonsense) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Niemann-Pick disease, type C2 +1 more | |
| | | Single nucleotide variant (nonsense) | Niemann-Pick disease, type C2 +2 more | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C +1 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +2 more | GPathogenic/Likely pathogenic |