| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126862481, POLR2A (V784L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | POLR2A, LOC126862481 (Q790P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862481, POLR2A (T908M) | Single nucleotide variant (missense variant) | POLR2A-related disorder +1 more | |
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