Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital myopathy 22B, severe fetal | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 22B, severe fetal | |
| | | Single nucleotide variant (nonsense) | Congenital myopathy 22B, severe fetal | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 22B, severe fetal | |
| | | Single nucleotide variant (missense variant) | Hyperkalemic periodic paralysis | |
Click to view in NCBI Gene