| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Inborn genetic diseases +3 more | |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 11 | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia 11 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 5 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia 11 | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 11 | |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 11 | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 11 | |
| | | Microsatellite (frameshift variant) | Hereditary spastic paraplegia 11 | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 11 | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 5 +3 more | |
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