| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ADGRE1, LOC130063345 (A669V +4 more) | Single nucleotide variant (missense variant) | ADGRE1-related condition | |
| | ADGRE1, LOC130063344 (R2L) | Single nucleotide variant (missense variant) | not provided | |
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