| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | MCOLN1, PNPLA6 (V19A +2 more) | Single nucleotide variant (missense variant) | not specified +4 more | |
| | MCOLN1, PNPLA6 (V22L +2 more) | Single nucleotide variant (missense variant) | not specified +8 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia +5 more | |
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