Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Spastic paraplegia | |
| | | Deletion (splice donor variant) | Huppke-Brendel syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Huppke-Brendel syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Huppke-Brendel syndrome | |
| | | Microsatellite (frameshift variant) | Huppke-Brendel syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Duplication (frameshift variant) | Huppke-Brendel syndrome | |
| | | Single nucleotide variant (missense variant) | Huppke-Brendel syndrome | |
Click to view in NCBI Gene