| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | NPC1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +2 more | |
| | | Single nucleotide variant (missense variant) | Nasopharyngeal carcinoma +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | |
| | | Single nucleotide variant (missense variant) | NPC1-related condition +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
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