| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +4 more | |
| | | Deletion (5 prime UTR variant +1 more) | not specified | |
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