| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Q | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more | GConflicting classifications of pathogenicity |
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