| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | |
| | | Single nucleotide variant (missense variant) | Inclusion Body Myopathy, Dominant +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene