| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130056175, POMT2 (W226fs) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more | GPathogenic/Likely pathogenic |
| | LOC130056175, POMT2 (W225fs) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more | GPathogenic/Likely pathogenic |
| | LOC130056175, POMT2 (W225fs) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more | GPathogenic/Likely pathogenic |
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