| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130063377, PNPLA6 (P4Q) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
Click to view in NCBI Gene