| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Deletion (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Deletion (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Deletion (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Copy number loss | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 4 | |
| | | Duplication (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Duplication (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Indel (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Microsatellite (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Deletion (frameshift variant) | Hearing impairment +2 more | |
| | | Deletion | Global developmental delay | |
| | | Insertion (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Developmental disorder +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Global developmental delay | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Duplication (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Duplication (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Deletion (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Deletion (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Deletion (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (nonsense) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Duplication (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Insertion (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |