| | SYNGAP1, SYNGAP1-AS1 (G1110* +1 more) | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (G929fs +1 more) | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (Q1050H +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (W657C) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (S535fs) | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 5 | |
| | | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1-AS1, SYNGAP1 (S1033fs +1 more) | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 5 | |
| | | Deletion | Intellectual disability, autosomal dominant 5 | |
| | | Deletion | Intellectual disability, autosomal dominant 5 | |
| | | Duplication | Intellectual disability, autosomal dominant 5 | |
| | | Deletion | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (Q1235* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (L353P) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (E495K) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 5 | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (L451P) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (T672fs) | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (N1131fs +1 more) | Insertion (frameshift variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (Y505H) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (Q407fs) | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (G341fs) | Indel (frameshift variant) | Intellectual disability, autosomal dominant 5 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | | Indel (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (M834I +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (P701S) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (V1064D +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (P1285H) | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (R356H) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | MIR5004, SYNGAP1 +1 more (M468V) | Single nucleotide variant (non-coding transcript variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (T640S) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (S765N) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Deletion (intron variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (P1327L) | Single nucleotide variant (3 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (G1113R +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (V827M +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (P298S) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (D1008G +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (R775P) | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (R922Q +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (P1090S +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (R870W +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1-AS1, SYNGAP1 (R840C +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (G787S +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (R475Q) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (R761Q) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (R479Q) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (S449G) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (R1103C +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (P773S +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (E739V) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (R1019fs +1 more) | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 5 | |