Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129931343, POLR3GL (R120* +1 more) | Single nucleotide variant (nonsense) | POLR3GL-related disorder | |
| | | Single nucleotide variant (splice acceptor variant) | POLR3GL-related disorder | |
| | | Single nucleotide variant (splice acceptor variant) | Short stature, oligodontia, dysmorphic facies, and motor delay +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene