| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 4 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Deletion (frameshift variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Tip-toe gait +6 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Hereditary spastic paraplegia 4 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraparesis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraparesis | |
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