Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 31 +1 more | |
| | | Deletion (frameshift variant +1 more) | Neuronopathy, distal hereditary motor, type 5B | |
| | | Indel (splice donor variant +1 more) | Spinal muscular atrophy, distal, autosomal recessive, 6 | |
Click to view in NCBI Gene