| | SYNGAP1, SYNGAP1-AS1 (K277fs) | Duplication (frameshift variant) | SYNGAP1-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | SYNGAP1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | SYNGAP1, SYNGAP1-AS1 (V447L) | Single nucleotide variant (missense variant) | SYNGAP1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SYNGAP1-related disorder +3 more | |
| | SYNGAP1, SYNGAP1-AS1 (R485C) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 +1 more | |
| | | Single nucleotide variant (intron variant) | SYNGAP1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | SYNGAP1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | SYNGAP1, SYNGAP1-AS1 (R575C) | Single nucleotide variant (missense variant) | SYNGAP1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +4 more | |
| | SYNGAP1, SYNGAP1-AS1 (T619S) | Single nucleotide variant (missense variant) | SYNGAP1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | SYNGAP1, SYNGAP1-AS1 (S766C +1 more) | Single nucleotide variant (missense variant) | SYNGAP1-related disorder +1 more | |
| | SYNGAP1, SYNGAP1-AS1 (S802fs +1 more) | Deletion (frameshift variant) | SYNGAP1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | SYNGAP1-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | SYNGAP1, SYNGAP1-AS1 (Q1028fs +1 more) | Deletion (frameshift variant) | SYNGAP1-related disorder | |
| | SYNGAP1-AS1, SYNGAP1 (A1045G +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | SYNGAP1-AS1, SYNGAP1 (I1115T +1 more) | Single nucleotide variant (missense variant) | SYNGAP1-related disorder +4 more | |
| | | Single nucleotide variant (intron variant) | SYNGAP1-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | SYNGAP1, SYNGAP1-AS1 (E1202V +1 more) | Single nucleotide variant (missense variant) | SYNGAP1-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 5 +1 more | |
| | SYNGAP1, SYNGAP1-AS1 (R1328Q) | Single nucleotide variant (3 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 5 +1 more | |