| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130063376, MCOLN1 (P4Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV +1 more | GConflicting classifications of pathogenicity |
| | LOC130063376, MCOLN1 (S10L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene