| | | 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 (missense 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) | 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) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Microsatellite (frameshift variant +1 more) | Neuromuscular disease and ocular or auditory anomalies with or without seizures | |
| | | Single nucleotide variant (nonsense) | Neuromuscular disease and ocular or auditory anomalies with or without seizures | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental delay +3 more | GPathogenic/Likely pathogenic |
| | | 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) | Corpus callosum, agenesis of +7 more | GPathogenic/Likely pathogenic |