Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Nemaline myopathy 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 5B, autosomal recessive, childhood-onset | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 5B, autosomal recessive, childhood-onset +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Nemaline myopathy 5B, autosomal recessive, childhood-onset | |
Click to view in NCBI Gene