Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Polyglucosan body myopathy 1 without immunodeficiency | |
| | | Duplication (frameshift variant +2 more) | Polyglucosan body myopathy 1 without immunodeficiency | |
| | | Deletion (frameshift variant +1 more) | Polyglucosan body myopathy 1 without immunodeficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Polyglucosan body myopathy 1 without immunodeficiency +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Polyglucosan body myopathy type 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Polyglucosan body myopathy type 1 | |
| | | Microsatellite (frameshift variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Polyglucosan body myopathy type 1 | |
Click to view in NCBI Gene