| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Parkinsonian disorder +2 more | |
| | | Microsatellite (frameshift variant) | Dysphagia +6 more | |
| | | Microsatellite (frameshift variant) | SURF1-related disorder +11 more | |
| | | Single nucleotide variant (intron variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | ERCC5, BIVM-ERCC5 (L977fs +1 more) | Microsatellite (frameshift variant) | Pes cavus +7 more | |
| | | Deletion (splice acceptor variant) | Hereditary spastic paraplegia 7 +10 more | |
| | | Single nucleotide variant (missense variant) | SPG7-related disorder +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dysarthria +2 more | |
| | | Single nucleotide variant (missense variant) | Dysarthria +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 39 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia +6 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital muscular hypertrophy-cerebral syndrome +9 more | |
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