| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Duplication (inframe_insertion) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Insertion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (inframe_deletion) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Microsatellite (inframe_deletion) | Developmental disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (inframe_deletion) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Deletion (inframe_deletion) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (synonymous variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Duplication (nonsense) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (inframe_deletion) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more | |
| | | Indel (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Insertion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +2 more | GPathogenic/Likely pathogenic |
| | | Deletion | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Developmental regression +2 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |