| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Gnathodiaphyseal dysplasia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | ANO5-related condition +13 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more | |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene