| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +5 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | ANO5-related condition +13 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Gnathodiaphyseal dysplasia +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene