Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorders +6 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorders +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuromuscular disease and ocular or auditory anomalies with or without seizures +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene