| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant +1 more) | Muscular dystrophy-dystroglycanopathy +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies +10 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (R215* +2 more) | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +4 more | |
| | | Single nucleotide variant (missense variant) | Headache +20 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene