| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 +5 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +3 more | |
Click to view in NCBI Gene