| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | |
| | | Deletion (splice donor variant) | Hereditary spastic paraplegia 4 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 4 | |
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 4 | |
| | | Microsatellite (frameshift variant) | Hereditary spastic paraplegia 4 | |
Click to view in NCBI Gene