| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | Neuromuscular disease and ocular or auditory anomalies with or without seizures | |
| | | Single nucleotide variant (missense variant) | Neuromuscular disease and ocular or auditory anomalies with or without seizures | |
| | | Single nucleotide variant (splice acceptor variant) | Neuromuscular disease and ocular or auditory anomalies with or without seizures | |
| | | Single nucleotide variant (missense variant) | Neuromuscular disease and ocular or auditory anomalies with or without seizures | |
| | | Single nucleotide variant (intron variant) | Neuromuscular disease and ocular or auditory anomalies with or without seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neuromuscular disease and ocular or auditory anomalies with or without seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay | |
| | | Single nucleotide variant (nonsense) | Neuromuscular disease and ocular or auditory anomalies with or without seizures | |
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