| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +4 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene