| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Developmental disorder | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 51 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Spastic paraplegia | |
| | | Deletion (frameshift variant) | Spastic paraplegia | |
| | | Single nucleotide variant (splice donor variant) | Spastic paraplegia | |
| | | Deletion (frameshift variant) | Spastic paraplegia | |
| | | Microsatellite (frameshift variant) | Spastic paraplegia | |
| | | Duplication (frameshift variant) | Spastic paraplegia | |
| | | Microsatellite (nonsense) | Stuttering, familial persistent, 1 | |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
Click to view in NCBI Gene