Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (nonsense) | Muscular atrophy | |
| | | Deletion (frameshift variant) | Muscular atrophy | |
| | | Microsatellite (frameshift variant) | Muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 18 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Proximal muscle weakness +6 more | |
| | | Single nucleotide variant (missense variant) | Proximal muscle weakness +6 more | |
| | | Deletion (inframe_deletion) | not provided +15 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sensory ataxia +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | X-linked progressive cerebellar ataxia | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
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