Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Werdnig-Hoffmann disease +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Deletion | Spinal muscular atrophy, type II +3 more | |
Click to view in NCBI Gene