| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | LOC126862481, POLR2A (F836L) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | LOC126862482, POLR2A (F1388L) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
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