| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Stankiewicz-Isidor syndrome | |
| | PSMD12, LOC130061479 (R27S) | Single nucleotide variant (5 prime UTR variant +1 more) | Stankiewicz-Isidor syndrome | |
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