| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | POMGNT1, TSPAN1 (W590* +2 more) | Single nucleotide variant (nonsense) | Muscle eye brain disease +5 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (G448R +2 more) | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
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