| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | POMGNT1, TSPAN1 (N509S +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | POMGNT1, TSPAN1 (W308fs +2 more) | Microsatellite (frameshift variant) | Muscle eye brain disease +3 more | |
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