| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | EDEM1, LOC129936095 (A134V) | Single nucleotide variant (missense variant) | not specified | |
| | EDEM1, LOC129936095 (N156S) | Single nucleotide variant (missense variant) | not specified | |
| | EDEM1, LOC129936095 (D166Y) | Single nucleotide variant (missense variant) | not specified | |
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