| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | MCOLN1, PNPLA6 (V19A +2 more) | Single nucleotide variant (missense variant) | Mucolipidosis type IV +4 more | |
| | MCOLN1, PNPLA6 (V22L +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 39 +8 more | |
| | | Single nucleotide variant (synonymous variant) | Spastic Paraplegia, Recessive +4 more | |
Click to view in NCBI Gene