| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +12 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia +6 more | |
Click to view in NCBI Gene