Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | |
| | HNRNPA1, LOC117038776 (D80fs) | Microsatellite (frameshift variant +1 more) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | |
| | | Duplication (intron variant) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
Click to view in NCBI Gene