| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129391295, REPS2 (H157R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129391295, REPS2 (D177N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129391295, REPS2 (R175T) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
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