| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | POMGNT1, TSPAN1 (Q516* +3 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | POMGNT1, TSPAN1 (F643V +3 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 76 +6 more | |
| | POMGNT1, TSPAN1 (P303L +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
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