| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806820, PPP2R3A (T207fs +2 more) | Duplication (frameshift variant) | PPP2R3A-related disorder | |
| | LOC126806820, PPP2R3A (V204M +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806820, PPP2R3A (E104A +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806820, PPP2R3A (D216G +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
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