| | LOC130055392, LOC130055393 +780 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861920, LOC126861921 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130055370, LOC130055371 +840 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Rett syndrome, congenital variant | |
| | | Insertion (5 prime UTR variant) | not provided | |
| | | Duplication (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Duplication (5 prime UTR variant) | not provided | |
| | | Deletion (5 prime UTR variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Duplication | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Rett syndrome, congenital variant | |
| | | Deletion (inframe_indel +1 more) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (synonymous variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (synonymous variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (synonymous variant) | Rett syndrome, congenital variant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (synonymous variant) | Rett syndrome, congenital variant | |
| | | Deletion (frameshift variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (synonymous variant) | Rett syndrome, congenital variant | |
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (synonymous variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Deletion (inframe_indel +1 more) | Rett syndrome, congenital variant | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant +2 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Microsatellite (inframe_insertion) | FOXG1 disorder | |
| | | Microsatellite (inframe_insertion) | Rett syndrome, congenital variant | |
| | | Microsatellite (inframe_insertion) | FOXG1-related condition +2 more | |
| | | Microsatellite (inframe_indel +1 more) | Rett syndrome, congenital variant +1 more | |
| | | Microsatellite (inframe_deletion) | not provided +2 more | |
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases +2 more | |
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Deletion (inframe_deletion) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Rett syndrome, congenital variant | |
| | | Deletion (frameshift variant) | Rett syndrome, congenital variant | |
| | | Deletion (inframe_indel +1 more) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Microsatellite (inframe_insertion) | Rett syndrome, congenital variant | |
| | | Microsatellite (inframe_insertion) | Rett syndrome, congenital variant +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Microsatellite (inframe_indel +1 more) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Rett syndrome, congenital variant | |
| | | Deletion (frameshift variant) | Rett syndrome, congenital variant | |
| | | Duplication (frameshift variant) | FOXG1 disorder | |
| | | Duplication (inframe_indel +1 more) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (inframe_deletion) | not specified +1 more | |
| | | Deletion (inframe_deletion) | Rett syndrome, congenital variant +1 more | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (synonymous variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Rett syndrome, congenital variant +1 more | |
| | | Deletion (inframe_indel +1 more) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Microsatellite (inframe_insertion) | Rett syndrome, congenital variant | |
| | | Duplication (inframe_insertion) | FOXG1 disorder | |
| | | Microsatellite (inframe_insertion) | FOXG1 disorder | |
| | | Microsatellite (inframe_indel +1 more) | FOXG1-related condition | |
| | | Deletion (inframe_indel +1 more) | Rett syndrome, congenital variant | |