Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 21 with early respiratory failure | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 21 with early respiratory failure | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 21 with early respiratory failure | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myopathy 21 with early respiratory failure | |
Click to view in NCBI Gene