| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Myopathy, distal, with rimmed vacuoles +3 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 +3 more | GPathogenic/Likely pathogenic |
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