| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | POMGNT1, TSPAN1 (R605P +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | POMGNT1-related disorder +10 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (R480W +2 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 76 +3 more | |
| | POMGNT1, TSPAN1 (R224H +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene