| | LOC105372173, LOC105372179 +1646 more | Copy number gain | See cases | |
| | LOC105372069, LOC105372071 +1643 more | Copy number gain | See cases | |
| | LOC121852961, LOC121852962 +1643 more | Copy number gain | See cases | |
| | LOC130062369, LOC130062370 +1643 more | Copy number gain | See cases | |
| | LOC130062321, LOC130062322 +1643 more | Copy number gain | See cases | |
| | LOC130062687, LOC130062688 +1642 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062768, LOC130062769 +1642 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062386, LOC130062387 +378 more | Copy number gain | See cases | |
| | LINC01900, LINC01908 +282 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062608, LOC130062609 +1266 more | Copy number gain | See cases | |
| | LOC130062514, LOC130062515 +1089 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126862705, NPC1 +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Niemann-Pick disease, type C1 | |
| | | Duplication (3 prime UTR variant) | Niemann-Pick disease, type C | |
| | | Single nucleotide variant (3 prime UTR variant) | Niemann-Pick disease, type C | |
| | | Single nucleotide variant (3 prime UTR variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Niemann-Pick disease, type C1 | |
| | | Deletion (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Niemann-Pick disease, type C1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | NPC1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C1 | |
| | | Indel (missense variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Duplication (frameshift variant) | not provided | |
| | | Deletion (inframe_deletion) | Niemann-Pick disease, type C1 | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C1 | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (synonymous variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C1 +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C1 | |
| | | Microsatellite (intron variant) | Niemann-Pick disease, type C1 | |
| | | Microsatellite (intron variant) | NPC1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C1 | |
| | | Deletion (intron variant) | Niemann-Pick disease, type C1 | |
| | | Deletion (intron variant) | Niemann-Pick disease, type C1 | |
| | | Deletion (intron variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (splice acceptor variant +1 more) | Niemann-Pick disease, type C | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (intron variant) | Niemann-Pick disease, type C1 | |