| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +2 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
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