| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (5 prime UTR variant) | Mucolipidosis type IV | |
| | LOC130063376, MCOLN1 (G6C) | Single nucleotide variant (missense variant) | Mucolipidosis type IV | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
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