| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130056175, POMT2 (V234I) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more | GConflicting classifications of pathogenicity |
| | LOC130056175, POMT2 (S222C) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130056175, POMT2 (P220L) | Single nucleotide variant (missense variant) | not provided +3 more | |
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