| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129931343, POLR3GL (R88Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129931343, POLR3GL (R92Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129931343, POLR3GL (R89C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129931343, POLR3GL (R120* +1 more) | Single nucleotide variant (nonsense) | POLR3GL-related disorder | |
| | | Single nucleotide variant (splice acceptor variant) | Short stature, oligodontia, dysmorphic facies, and motor delay +4 more | GPathogenic/Likely pathogenic |
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