| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | TRRAP-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 75 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Insertion (frameshift variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (nonsense) | Developmental delay with or without dysmorphic facies and autism | |
| | | Duplication (inframe_insertion) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 75 +1 more | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 75 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism +1 more | |
| | LOC126860121, TRRAP (F1697L +2 more) | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (intron variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (splice donor variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (intron variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (nonsense) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 75 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (synonymous variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | not provided | |