Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Polyglucosan body myopathy 1 with immunodeficiency | |
| | | Deletion (5 prime UTR variant +3 more) | Polyglucosan body myopathy 1 with immunodeficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyglucosan body myopathy 1 with immunodeficiency | |
Click to view in NCBI Gene