| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (synonymous variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Copy number loss | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Microsatellite (inframe_deletion) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Deletion (inframe_deletion) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Microsatellite (inframe_insertion) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (synonymous variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Deletion (frameshift variant) | not provided | |
| | | Indel (frameshift variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies +1 more | GConflicting classifications of pathogenicity |
| | LOC129935026, TBR1 (T532fs) | Microsatellite (frameshift variant) | Severe global developmental delay +12 more | GPathogenic/Likely pathogenic |