| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant +1 more) | not provided +7 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (N619Y +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more | |
| | | Single nucleotide variant (splice donor variant) | POMGNT1-related disorder +10 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene