| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129390655, SEL1L (K160N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129390655, SEL1L (R146K) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129390655, SEL1L (D135Y) | Single nucleotide variant (missense variant) | not specified | |
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