| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Gnathodiaphyseal dysplasia +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +6 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Miyoshi muscular dystrophy 3 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Miyoshi muscular dystrophy 3 | |
Click to view in NCBI Gene