| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Uruguay Faciocardiomusculoskeletal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy, reducing body, X-linked, childhood-onset +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene