Links from MedGen
Items: 16
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (intron variant) | Spinal muscular atrophy, type II | |
| | | Single nucleotide variant (nonsense +1 more) | Spinal muscular atrophy, type II | |
| | | Single nucleotide variant (nonsense) | Spinal muscular atrophy, type II | |
| | | Deletion (frameshift variant) | Spinal muscular atrophy, type II | |
| | | Deletion (frameshift variant) | Spinal muscular atrophy, type II | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Spinal muscular atrophy, type II | |
| | | Duplication (frameshift variant) | Spinal muscular atrophy, type II | |
| | | Single nucleotide variant (missense variant +1 more) | Kugelberg-Welander disease +4 more | |
| | | Deletion | Kugelberg-Welander disease +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy, type II | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion | Spinal muscular atrophy, type II +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
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