| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (splice donor variant) | Amyotrophic lateral sclerosis type 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 11 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 11 | |
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 11 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (splice donor variant) | Hereditary spastic paraplegia 11 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 11 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 5 +4 more | GConflicting classifications of pathogenicity |
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