| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CRPPA-related disorder | |
Click to view in NCBI Gene