| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | POMGNT1, TSPAN1 (R224H +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
Click to view in NCBI Gene