| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type R18 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
Click to view in NCBI Gene