| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Gnathodiaphyseal dysplasia +2 more | |
| | | Duplication (frameshift variant) | Lower limb muscle weakness +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | ANO5-related disorder +6 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Gnathodiaphyseal dysplasia +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more | |
| | | Single nucleotide variant (missense variant) | Miyoshi muscular dystrophy 3 +6 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene