| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | POMGNT1, TSPAN1 (P418R +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | POMGNT1, TSPAN1 (D273E +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | POMGNT1, TSPAN1 (S280N +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +7 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (R123W +2 more) | Single nucleotide variant (missense variant) | Retinal dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (A167P +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | POMGNT1, TSPAN1 (H184Y +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more | |
| | POMGNT1, TSPAN1 (V143M +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
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