| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | POMGNT1, TSPAN1 (R605P +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more | GPathogenic/Likely pathogenic |
| | TSPAN1, POMGNT1 (G505S +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +6 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (R122C +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more | |
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