| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Lethal arthrogryposis-anterior horn cell disease syndrome +1 more | GConflicting classifications of pathogenicity |
| | GLE1, LOC101929270 (E612V +1 more) | Single nucleotide variant (missense variant) | Lethal congenital contracture syndrome 1 | |
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