| | | Single nucleotide variant (missense variant) | Developmental delay and seizures with or without movement abnormalities +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay and seizures with or without movement abnormalities +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay and seizures with or without movement abnormalities +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay and seizures with or without movement abnormalities +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay and seizures with or without movement abnormalities +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay and seizures with or without movement abnormalities | |
| | | Single nucleotide variant (splice donor variant +1 more) | Developmental delay and seizures with or without movement abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay and seizures with or without movement abnormalities +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Developmental delay and seizures with or without movement abnormalities +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Developmental delay and seizures with or without movement abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay and seizures with or without movement abnormalities | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 59 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay and seizures with or without movement abnormalities | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 59 +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 59 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay and seizures with or without movement abnormalities +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental delay and seizures with or without movement abnormalities +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay and seizures with or without movement abnormalities +3 more | |