Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | Complex hereditary spastic paraplegia | |
| | | Single nucleotide variant (splice donor variant) | Complex hereditary spastic paraplegia | |
| | | Single nucleotide variant (nonsense +1 more) | Spastic paraplegia 86, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia 86, autosomal recessive +1 more | |
| | | Single nucleotide variant | Mitochondrial disease | |
Click to view in NCBI Gene