| | MIR5004, SYNGAP1 +1 more (M468V) | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | | Duplication (non-coding transcript variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | MIR5004, SYNGAP1 +1 more (F464V) | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | MIR5004, SYNGAP1 +1 more (L465fs) | Duplication (non-coding transcript variant +1 more) | not provided | |
| | MIR5004, SYNGAP1 +1 more (L465P) | Single nucleotide variant (non-coding transcript variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | MIR5004, SYNGAP1 +1 more (L465V) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | MIR5004, SYNGAP1 +1 more (M468T) | Single nucleotide variant (non-coding transcript variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | MIR5004, SYNGAP1 +1 more (M468K) | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | MIR5004, SYNGAP1 +1 more (L465fs) | Deletion (frameshift variant +1 more) | not provided +1 more | |