| | | Insertion (frameshift variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (splice donor variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Deletion (intron variant) | Niemann-Pick disease, type C2 | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (splice acceptor variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (splice donor variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (nonsense) | Niemann-Pick disease, type C2 | |
| | | Microsatellite (nonsense) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 +1 more | |
| | | Deletion | Niemann-Pick disease, type C2 | |
| | | Deletion | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 | |
| | | Inversion (missense variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C2 | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C2 | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C2 | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (nonsense) | Niemann-Pick disease, type C2 | |