| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EPB41L1, LOC126863021 (P639L +12 more) | Single nucleotide variant (missense variant) | not specified | |
| | EPB41L1, LOC126863021 (V522F +12 more) | Single nucleotide variant (missense variant) | not specified | |
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