| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2Y | |
| | | Copy number gain | not provided | |
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