| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neuromuscular disease and ocular or auditory anomalies with or without seizures +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neuromuscular disease and ocular or auditory anomalies with or without seizures +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental delay +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene