| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130063254, LOC130063255
+810 more | Copy number gain | See cases | |
| | LOC130063377, PNPLA6 (M1T) | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 39 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
Click to view in NCBI Gene